Gene | SNP | Chr:position* | Imputed | Info | GWAS Catalog traits† | Studies | Published year | GCAT trait | β | SE | P values |
CCDC141 | rs151041685 | 2:179725237 | Yes | 0.998 | Resting heart rate | 1 | 2016 | heart_rate_c | 2.06 | 0.361 | 1.2×10−8** |
CCDC141, LOC105373766 | rs79146658 | 2:179786068 | Yes | 0.971 | Diastolic blood pressure | 1 | 2017 | heart_rate_c | 2.359 | 0.3749 | 3.4×10−10 |
SLC45A2 | rs16891982 | 5:33951693 | Yes | 0.985 | Hair colour, eye colour, black versus non-black hair colour, skin sensitivity to sun, squamous cell carcinoma, melanoma, monobrow | 6 | 2010, 2015, 2016, 2017 | skin_color | −0.546 | 0.021 | 2.2×10−130 |
DUSP22, IRF4 | rs7773324 | 6:382559 | Yes | 0.986 | Crohn’s disease, inflammatory bowel disease | 1 | 2015 | freckling_phototype_score | 0.281 | 0.045 | 6.5×10−10** |
IRF4 | rs12203592 | 6:396321 | No | – | Black versus blond hair colour, black versus red hair colour, hair colour, eye colour, freckling, progressive supranuclear palsy, non-melanoma skin cancer, tanning, sunburns, facial pigmentation, skin colour saturation, cutaneous squamous cell carcinoma, squamous cell carcinoma, basal cell carcinoma | 9 | 2008, 2010, 2011, 2013, 2015, 2016 | hair_color_phototype_score | 1.915 | 0.118 | 2.8×10−57 |
IRF4, LOC105374875 | rs62389424 | 6:422631 | Yes | 0.882 | Blond versus non-blond hair colour, brown versus non-brown hair colour, light versus dark hair colour, lung cancer in ever smokers | 2 | 2015, 2017 | freckling_phototype_score | −0.926 | 0.073 | 1.6×10−35 |
LOC105374875 | rs12210050 | 6:475489 | No | – | Tanning, basal cell carcinoma, schizophrenia | 4 | 2009, 2011, 2012, 2016 | hair_phototype_score | 1.025 | 0.123 | 1.7×10−16 |
RNU2-47P, TYRP1 | rs1408799 | 9:12672097 | No | – | Blue versus green eyes, eye colour | 2 | 2008, 2013 | eye_phototype_score | 0.453 | 0.071 | 2.2×10−10 |
BNC2- LOC105375983 | 9:16884586 | Yes | 0.991 | Cutaneous squamous cell carcinoma, basal cell carcinoma | 2 | 2 | −0.089 | 0.016 | 3.4×10−8** | ||
LOC107984363, TYR | rs1126809 | 11:89017961 | Yes | 0.993 | Tanning, sunburns, cutaneous squamous cell carcinoma, squamous cell carcinoma, basal cell carcinoma | 4 | 2013, 2016 | skin_color | −1.672 | 0.282 | 3.5×10−9** |
LOC105370627 | rs12896399 | 14:92773663 | No | – | Blond versus brown hair colour, blue versus green eyes, black versus blond hair colour, hair colour, eye colour | 4 | 2007, 2008, 2010, 2013 | phototype_score | 0.093 | 0.016 | 1.9×2.5−8** |
OCA2 | rs11855019 | 15:28335820 | No | – | Black versus blond hair colour, black versus red hair colour | 1 | 2008 | hair_color | −0.548 | 0.022 | 2.4×10−121 |
HERC2 | rs1667394 | 15:28530182 | No | – | Blond versus brown hair colour, blue versus green eyes, blue versus brown eyes, eye colour | 2 | 2007, 2012 | eye_color | −0.608 | 0.02 | 2.8×10−176 |
SPG7, RPL13 | rs67689854 | 16:89625227 | Yes | 0.902 | Stromal cell-derived factor 1 alpha levels | 1 | 2016 | eye_color | 2.284 | 0.278 | 7.9×10−11 |
SPATA33 | rs35063026 | 16:89736157 | Yes | 0.987 | Facial pigmentation, squamous cell carcinoma | 2 | 2015, 2016 | hair_color_red | 3.112 | 0.309 | 5.4×10−17 |
CDK10 | rs258322 | 16:89755903 | No | – | Black versus red hair colour, melanoma | 5 | 2008, 2009, 2011, 2014, 2017 | hair_color_red | 2.431 | 0.267 | 1.2×10−13 |
FANCA | rs12931267 | 16:89818732 | Yes | 0.989 | Hair colour, freckling, skin sensitivity to sun | 2 | 2015, 2017 | hair_color_red | 3.218 | 0.311 | 3.9×10−18 |
MC1R | rs1805007 | 16:89986117 | No | – | Freckles, blond versus brown hair colour, red versus non-red hair colour, skin sensitivity to sun, basal cell carcinoma, tanning, hair colour, sunburns, non-melanoma skin cancer, perceived skin darkness, cutaneous squamous cell, melanoma | 7 | 2007, 2011, 2013, 2015, 2016, 2017 | hair_color_red | 3.615 | 0.326 | 7.7×10−22 |
DEF8 | rs146972365 | 16:90022693 | Yes | 0.974 | Red versus non-red hair colour, light versus dark hair colour, brown versus non-brown hair colour | 1 | 2015 | hair_color | 0.442 | 0.052 | 3×10−17 |
AFG3L1P | rs8063160 | 16:90054709 | Yes | 0.988 | Brown versus non-brown hair colour, light versus dark hair colour, red versus non-red hair colour | 1 | 2015 | hair_color_red | 2.577 | 0.277 | 8.9×10−15 |
TSPAN10 | rs9747347 | 17:79606820 | Yes | 0.982 | Myopia | 1 | 2016 | hair_color_phototype_score | −0.526 | 0.087 | 1.8×10−9** |
HMGN1P31- CDH20 | 18:58840518 | Yes | 0.953 | Deep ovarian and/or rectovaginal disease with dense | 1 | 2017 | handedness | 0.045 | 0.008 | 3.9×10−8** | |
SMARCA4, LDLR | 19:11193949 | Yes | 0.999 | Cholesterol, total | 1 | 2017 | icd9_code3_272 | −0.501 | 0.079 | 3.2×10−10 | |
LDLR | rs6511720 | 19:11202306 | No | – | LDL cholesterol, carotid intima media thickness, cardiovascular disease risk factors, lipoprotein-associated phospholipase A2 activity and mass, cholesterol, total, metabolite levels, lipid metabolism phenotypes, Abdominal aortic aneurysm | 12 | 2008, 2009, 2010, 2011, 2012, 2013 | icd9_code3_272 | −0.493 | 0.081 | 9.4×10−10** |
RPL41P1- LINC01432 | 20:22000281 | No | – | Male-pattern baldness | 1 | 2016 | hair_loss_40 | 0.19 | 0.032 | 6.2×10−9** | |
LINC01432 | rs1160312 | 20:22050503 | No | – | Male-pattern baldness | 1 | 2008 | hair_loss_40 | 0.193 | 0.032 | 1.9×10−9** |
*Chr:position based on hg19.
†GWAS Catalog traits based on GWAS Catalog database (release V.1.0, e90, 27 September 2017).
5×10−8 threshold for univariate GWAS and 5×10−10 threshold accounting for multiple phenotypes.
GWAS, genome-wide association studies; LDL, low-density lipoprotein.
_c for heart-rate_c, means calculated-imputed variable.