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
RS2085439767 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2085459433 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2085462282 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS2085466105 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2085469647 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2085472296 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2085475059 CD40 Health Risk Likely pathogenic —
RS2085487528 MLH1 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2085499583 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085516391 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS2085551925 PCNT Health Risk Likely pathogenic —
RS2085552425 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085553784 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS2085554912 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085556498 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Abnormal central motor function
RS2085558165 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085559084 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS2085560685 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2085561415 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2085562005 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085567158 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085572299 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2085573796 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2085575423 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2085584895 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2085611187 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS2085614125 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2085617270 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2085633095 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2085643760 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2085644108 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2085644916 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2085652979 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085653401 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2085653871 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2085655247 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2085656304 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS2085657588 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2085658893 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085658957 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2085659750 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2085661108 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS2085661524 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2085663022 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085667006 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085669104 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085688464 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2085693506 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2085696801 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2085710902 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085712121 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS2085712265 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS2085727488 DEPDC5 Health Risk Pathogenic —
RS2085727988 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2085728001 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085728214 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2085732359 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085736646 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS2085739021 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS2085739247 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2085744080 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085761543 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2085775108 PRKAR1A Health Risk Likely pathogenic —
RS2085778381 SON Health Risk Conflicting classifications of pathogenicity SON-related disorder, SON-related disorder
RS2085781090 DNAAF3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 2
RS2085791151 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2085795613 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS2085799827 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2085802432 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2085805732 SON Health Risk Pathogenic —
RS2085807720 KIF4A Health Risk Pathogenic Intellectual disability, X-linked 100
RS2085808203 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2085811037 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2085815855 SON Health Risk Pathogenic —
RS2085816295 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2085819579 DNAAF3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia
RS2085827807 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2085834681 SON Health Risk Pathogenic —
RS2085836426 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2085848277 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2085872082 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS2085872592 SLC35C1 Health Risk Pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS2085876656 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2085890040 SON Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2085890366 SON Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2085894212 SON Health Risk Pathogenic —
RS2085897920 SON Health Risk Pathogenic —
RS2085898708 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085900706 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2085901333 SON Health Risk Pathogenic Inborn genetic diseases, ZTTK syndrome
RS2085905732 SON Health Risk Conflicting classifications of pathogenicity —
RS2085921116 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2085947999 PCNT Health Risk Likely pathogenic —
RS2085953535 TSC2 Health Risk Pathogenic —
RS2085955298 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085972658 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2085974792 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2085980902 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2085985186 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of urinary bladder
RS2085987512 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
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