rs1393350
rs1393350 increases susceptibility to Blond rather than brown hair 1.29 times for carriers of the A allele [PMID 17952075]
rs1393350 increases susceptibility to Blue rather than green eyes 1.52 times for carriers of the A allele [PMID 17952075]
rs1393350 increases susceptibility to Skin sensitivity to sun 1.26 times for carriers of the A allele [PMID 17952075]
GWAS snp
PMID [PMID 19340012OA-icon.png]
Trait Tanning
Title Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry
Risk Allele A
P-val 2E-13
Odds Ratio
OMIM 601800
Desc SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
Variant
Related also
OMIM 606933
Desc TYROSINASE; TYR
Variant
Related also
GWAS snp
PMID [PMID 19578364OA-icon.png]
Trait Melanoma
Title Genome-wide association study identifies three loci associated with melanoma risk
Risk Allele A
P-val 2E-14
Odds Ratio 1.29 [1.21-1.38]
GWAS snp
PMID [PMID 20410501OA-icon.png]
Trait Vitiligo
Title Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo
Risk Allele G
P-val 2E-18
Odds Ratio 1.53 [1.39-1.68]
GWAS snp
PMID [PMID 20585627OA-icon.png]
Trait Eye color
Title Web-based, participant-driven studies yield novel genetic associations for common traits
Risk Allele A
P-val 3E-9
Odds Ratio 0.28 [NR] unit decrease
OMIM 155601
Desc
Variant
Related also
OMIM 613099
Desc
Variant
Related also
GWAS snp
PMID [PMID 21983787OA-icon.png]
Trait
Title Genome-wide association study identifies three new melanoma susceptibility loci.
Risk Allele A
P-val 2E-13
Odds Ratio 1.3000 None
[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 19384953OA-icon.png] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 20463881OA-icon.png] Digital quantification of human eye color highlights genetic association of three new loci.
[PMID 23100201OA-icon.png] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
rs1847134
rs1847134 is associated with Melanoma (R) . It is reported to increased association with Melanoma. No specific risk allele was identified in the study.
rs12203592
rs12203592 showed the largest allele frequency difference between the Irish individuals and those individuals of Northern, Central European and Eastern European descent
rs12203592 for freckling was previously associated with hair color, eye color, and tanning response to sunlight 10.1371/journal.pgen.1000993
rs12203592
The Minor "T" allele is associated with:
Lighter skin color and less tanning ability.
Blue/light eye color [R].
Increased risk of greying hair (R).
Increased sun sensitivity [R].
Increased risk for non-Hodgkin lymphoma [R].
Increased risk of childhood leukemia in males [R].
Increased risk for rheumatoid arthritis [R].
rs12203592 is associated with Hair Color (R) . It is reported to association with Hair color (red hair). No specific risk allele was identified in the study.
The T allele of rs12203592 is reported to be associated with Freckles (R) . Your genotype was not identified for this SNP so we are unable to comment on your association with Freckling.
rs12203592 is associated with Progressive Supranuclear Palsy (R) . It is reported to increased association with Progressive supranuclear palsy. No specific risk allele was identified in the study.
rs12913832
rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype.[PMID 18172690, PMID 18252222]
For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06).10.1371/journal.pgen.1000993
rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other racial groups.[PMID 18172690]
rs1667394
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele [PMID 17952075]
rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele [PMID 17952075]
rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele [PMID 17952075]
rs16891982
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry [PMID 16847698]
[PMID 18563784] c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing)
An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7.[PMID 18806926]
rs11648785
Nearby the MC1R (melanocortin 1 receptor), which encodes a membrane channel protein that is considered to be a rate-limiting component in melanin production. This variant is also associated with red hair color.
Disease Genes dbSNP Genotype Risk Allele OR or beta P-Value Link
Musician's dystonia ARSG 11655081* ?? ? 4.33 4.00E-09 24375517
One-two percent of musician's are affected with musician's dystonia, 93 percent of whom are classical musicians, and 81 percent are male. Part of the problem of being a classical musician is that “you have to hit the target exactly” every time.
Notable musician's with dystonia (2):
Canadian pianist Glenn Gould - Gould’s “hand that does not easily widen” and noted that his “middle and ring fingers keep close company (1).
19th-century composer Robert Schumann had fingering difficulties at the keyboard.
Leon Fleisher and Gary Graffman, two of the brightest lights of a stellar generation of American pianists, in the 1960s and ’70s.
Billy McLaughlin, an acoustic guitarist, and Ryan J. Thomson, a multistyle violinist.
German early-music violinist Reinhard Goebel.
Classical guitarist David Leisner
Disease Genes dbSNP Genotype Risk Allele OR or beta P-Value Link
"""Schizophrenia, bipolar disorder and depression (combined)""" ADM 6484218* ?? A NR 4.00E-08 20713499
"""Schizophrenia, schizoaffective disorder or bipolar disorder""" ITIH1 2710323* ?? ? NR 3.00E-08 24166486
"""Schizophrenia, schizoaffective disorder or bipolar disorder""" MHC 17693963* ?? ? NR 2.00E-09 24166486
"""Schizophrenia, schizoaffective disorder or bipolar disorder""" MAD1L1 4721295* ?? ? NR 6.00E-10 24166486
"""Schizophrenia, schizoaffective disorder or bipolar disorder""" CSMD1 6558872* ?? ? NR 5.00E-08 24166486
"""Schizophrenia, schizoaffective disorder or bipolar disorder""" SDCCAG8 6703335* ?? ? NR 4.00E-09 24166486
Bipolar disorder DGKH 1012053* ?? A 1.59 2.00E-08 17486107
Bipolar disorder ANK3 10994336* ?? T 1.45 9.00E-09 18711365
Bipolar disorder NCAN 1064395* ?? A 1.17 2.00E-09 21353194
Bipolar disorder ODZ4 12576775* ?? G 1.14 4.00E-08 21926972
Bipolar disorder RP11-252P19.1 1039002* ?? ? NR 2.00E-08 22205951
Bipolar disorder CANCNA1C 4765913* ?? A 1.14 2.00E-08 21926972
Bipolar disorder Intergenic 2727943* ?? ? NR 3.00E-08 22205951
Bipolar disorder NR 420259* ?? ? NR 9.00E-09 21254220
Bipolar disorder NR 9378249* ?? ? NR 1.00E-08 21254220
Bipolar disorder LMAN2L 2271893* ?? G NR 2.00E-10 22182935
Bipolar disorder PTGFR 4650608* ?? T NR 8.00E-09 22182935
Bipolar disorder ANK3 4948418* ?? T NR 4.00E-10 22182935
Bipolar disorder ANK3 10994415* ?? C 1.27 7.00E-11 24618891
Bipolar disorder TRANK1 9834970* ?? C NR 1.00E-12 22182935
Bipolar disorder MIR2113, POU3F2 12202969* ?? A 1.12 1.00E-08 24618891
Bipolar disorder Intergenic 7618915* ?? G NR 3.00E-10 22182935
Bipolar disorder ODZ4 12290811* ?? A 1.19 1.00E-09 24618891
Bipolar disorder TRANK1 6550435* ?? G 1.13 2.00E-08 24618891
Bipolar disorder ADCY2 17826816* ?? G 1.14 1.00E-08 24618891
Bipolar disorder (body mass index interaction) TCF7L2 12772424* ?? ? NR 3.00E-08 24322204
Bipolar disorder NCAN 1064395* ?? A 1.17 2.00E-09 21353194
Bipolar disorder (body mass index interaction) NR 79436609* ?? ? NR 3.00E-08 24322204
Bipolar disorder and major depressive disorder (combined) CACNA1C 1006737* ?? A 1.18 3.00E-08 20351715
Bipolar disorder (body mass index interaction) TRIM42 72977016* ?? ? NR 7.00E-09 24322204
Bipolar disorder and schizophrenia ASTN2 11789399* ?? ? 1.29 6.00E-09 20889312
Bipolar disorder and schizophrenia GABRR1 12201676* ?? ? 1.31 4.00E-08 20889312
Personality traits in bipolar disorder intergenic 10479334* ?? ? 2.00E-09 21368711
Personality traits in bipolar disorder PLCE1 9419788* ?? ? 4.00E-08 21368711
Personality traits in bipolar disorder BC039529 9846232* ?? ? 1.00E-08 21368711
Schizophrenia or bipolar disorder CACNA1C 1006737* ?? ? NR 6.00E-13 24280982
Schizophrenia or bipolar disorder IFI44L 4650608* ?? ? NR 8.00E-09 24280982
Schizophrenia or bipolar disorder PIK3C2A 4356203* ?? ? NR 6.00E-09 24280982
Schizophrenia or bipolar disorder MHC 17693963* ?? ? NR 3.00E-09 24280982
Schizophrenia or bipolar disorder MAD1L1 10275045* ?? ? NR 2.00E-09 24280982
Schizophrenia or bipolar disorder TRANK1 9834970* ?? ? NR 1.00E-10 24280982
Schizophrenia or bipolar disorder MHC 17693963* ?? ? NR 3.00E-11 24280982
Schizophrenia or bipolar disorder CACNA1C 1006737* ?? ? 6.00E-13 24280982
Schizophrenia or bipolar disorder TRANK1 9834970* ?? ? 1.00E-10 24280982
Schizophrenia or bipolar disorder MHC 17693963* ?? ? 3.00E-11 24280982
Schizophrenia or bipolar disorder MAD1L1 10275045* ?? ? 2.00E-09 24280982
Schizophrenia or bipolar disorder PIK3C2A 4356203* ?? ? 6.00E-09 24280982
Schizophrenia or bipolar disorder MHC 17693963* ?? ? 3.00E-09 24280982
Suicide attempts in bipolar disorder Intergenic 300774* ?? A 1.22 5.00E-08 21423239
Schizophrenia or bipolar disorder IFI44L 4650608* ?? ? 8.00E-09 24280982
Temperament (bipolar disorder) MDM1 416350* ?? ? 2.1 4.00E-08 22365631
Temperament (bipolar disorder) FBLN1 1985671* ?? ? -1.06 2.00E-08 22365631
Temperament (bipolar disorder) INTS7 17018311* ?? ? 4.21 2.00E-08 22365631
Disease Genes dbSNP Genotype Risk Allele OR or beta P-Value Link
Male-pattern baldness AR, EDA2R 2497938* ?? T 6.5 3.00E-22 22032556
Male-pattern baldness PAX1, BQ013595, BE789145 2180439* ?? C 1.82 3.00E-15 18849994
Male-pattern baldness Intergenic 2180439* ?? ? 2.08 4.00E-17 22032556
Male-pattern baldness PAX1 1160312* ?? A 1.6 1.00E-14 18849991
Male-pattern baldness HDAC9 2073963* ?? G 1.29 1.00E-12 22693459
Male-pattern baldness AR 6625163* ?? A 3.3 5.00E-11 18849991
Male-pattern baldness AR 2497938* ?? T 2.2 2.00E-91 22693459
Male-pattern baldness PAX1, FOXA2 6047844* ?? T 1.6 2.00E-39 22693459
Male-pattern baldness AUTS2 6945541* ?? C 1.27 2.00E-09 22693459
Male-pattern baldness HDAC4 9287638* ?? A 1.31 1.00E-12 22693459
Male-pattern baldness Intergenic 12373124* ?? T 1.33 5.00E-10 22693459
Male-pattern baldness SETBP1 10502861* ?? C 1.28 3.00E-09 22693459
Male-pattern baldness TARDBP 12565727* ?? A 1.33 9.00E-11 22693459
rs12913832: Located within the HERC2/OCA2 (E3 ubiquitin ligase / oculocutaneous albinism II) genes; OCA2 encodes a melanocyte-specific transporter protein involved in melanin synthesis. A common mutation in HERC2 affects the expression of OCA2, resulting in blue eye color.
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