SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2465882986 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465882990 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS2465882994 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS2465883028 SPAST Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2465883035 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465883117 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465883152 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465883194 SPAST Health Risk Pathogenic —
RS2465883235 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS2465883314 CYP1B1 Health Risk Likely pathogenic —
RS2465883438 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465883561 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS2465883734 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465884101 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465884147 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465884153 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465884568 CYP1B1 Health Risk Pathogenic/Likely pathogenic Primary congenital glaucoma, Anterior segment dysgenesis 6
RS2465884590 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465884698 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS2465884929 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465884959 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS2465885080 SPAST Health Risk Pathogenic —
RS2465896584 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465896658 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465896835 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS2465900165 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465900686 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465900713 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465901077 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465901189 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465901202 LRPPRC Health Risk Pathogenic —
RS2465901308 LRPPRC Health Risk Pathogenic —
RS2465901348 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2465901443 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465902056 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2465902960 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903034 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903125 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903176 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903259 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903354 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465903447 SPAST Health Risk Likely pathogenic SPAST-related disorder, SPAST-related disorder
RS2465903479 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465908146 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465917047 SPAST Health Risk Likely pathogenic —
RS2465917160 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465917425 MCEE Health Risk Likely pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS2465931432 MCEE Health Risk Pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS2465939469 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2465946207 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465946332 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465946676 SPAST Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2465946747 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465948985 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465949850 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2465951776 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS2465969801 ALMS1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Alstrom syndrome
RS2465970154 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS2465970805 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2465971353 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2465971490 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2465971495 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2465971767 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS2465972753 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465979379 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2465984168 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2465984640 FAM161A Health Risk Pathogenic —
RS2465984706 FAM161A Health Risk Pathogenic —
RS2465985058 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2465985061 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465985074 FAM161A Health Risk Pathogenic —
RS2465985229 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465985555 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465986259 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465986380 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465986626 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2465986850 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465987043 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465987324 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465987760 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465988537 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2465988888 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465988970 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465989502 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465989679 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465989770 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465990056 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465990319 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465990477 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2465991374 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465991461 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465991798 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465992447 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465992537 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2465992970 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465993056 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465993387 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465993510 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465993891 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465993994 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
« Prev 1 ... 1988 1989 1990 1991 1992 1993 1994 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →