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
RS1565939303 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565939337 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565939532 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565940214 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565940240 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565940841 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565940856 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565940860 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565940930 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565941003 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565941046 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1565941072 TBX5 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1565941245 LATS2 Health Risk Likely pathogenic Malignant peritoneal mesothelioma, Malignant peritoneal mesothelioma
RS1565941422 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565941434 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565941529 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565941576 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Cardiovascular phenotype
RS1565941579 TBX5 Health Risk Likely pathogenic 6 conditions, Holt-Oram syndrome
RS1565941587 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565942358 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS1565942511 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Aortic valve disease 2
RS1565943228 MYBPC1 Health Risk Pathogenic MYBPC1-related disorder, Myopathy
RS1565943262 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1565943328 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565945249 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565946117 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1565956310 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565960909 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565961210 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565961371 POLE Health Risk Conflicting classifications of pathogenicity —
RS1565962725 SYT1 Health Risk Pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, SYT1-associated neurodevelopmental disorder
RS1565964707 POLE Health Risk Pathogenic —
RS1565965603 POLE Health Risk Pathogenic —
RS1565971583 POLE Health Risk Pathogenic —
RS1565971720 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565972026 POLE Health Risk Likely pathogenic —
RS1565973030 POLE Health Risk Pathogenic —
RS1565973210 POLE Health Risk Likely pathogenic Colorectal carcinoma, Colorectal carcinoma
RS1565973352 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1565975090 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565975328 POLE Health Risk Likely pathogenic —
RS1565977663 POLE Health Risk Pathogenic —
RS1565977796 CDK8 Health Risk Likely pathogenic 7 conditions, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1565978171 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565979631 POLE Health Risk Likely pathogenic —
RS1565979764 POLE Health Risk Pathogenic —
RS1565980363 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastric cancer
RS1565981137 MED13L Health Risk Pathogenic/Likely pathogenic Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1565981538 POLE Health Risk Pathogenic —
RS1565981653 POLE Health Risk Pathogenic —
RS1565981717 POLE Health Risk Pathogenic —
RS1565981775 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565982697 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1565985681 MED13L Health Risk Pathogenic —
RS1565986506 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1565986587 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1565987758 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1565993028 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS1565995034 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1565995054 MED13L Health Risk Pathogenic —
RS1565995146 MED13L Health Risk Likely pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1565997261 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1566003392 TCTN1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1566005476 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1566007803 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1566009282 IGF1 Health Risk Likely pathogenic —
RS1566010195 MED13L Health Risk Likely pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1566011034 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1566011496 MED13L Health Risk Pathogenic —
RS1566014158 MED13L Health Risk Likely pathogenic See cases, See cases
RS1566025668 PDX1 Health Risk Likely pathogenic —
RS1566025744 PDX1 Health Risk Likely pathogenic Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4
RS1566039159 ALDH18A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1566055368 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1566058677 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1566059895 SACS Health Risk Likely pathogenic —
RS1566067386 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1566067485 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1566067709 CHST11 Health Risk Conflicting classifications of pathogenicity Chondrodysplasia, clino-symphalangism
RS1566068552 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1566069517 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1566072001 SACS Health Risk Pathogenic —
RS1566073911 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1566074689 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1566074908 TCTN3 Health Risk Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS1566075180 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1566078009 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1566078120 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1566079629 HECTD4 Health Risk Pathogenic Neurodevelopmental disorder with seizures, spasticity
RS1566091706 SUCLA2 Health Risk Likely pathogenic —
RS1566092307 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1566092362 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS1566092470 HNF1A Health Risk Pathogenic Type 1 diabetes mellitus 20, Monogenic diabetes
RS1566121215 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1566123619 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1566132205 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1566133616 FREM2 Health Risk Pathogenic Isolated cryptophthalmia, Isolated cryptophthalmia
RS1566137903 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1566147222 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS1566147422 MYL2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10
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