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
RS2082523114 SLC5A2 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS2082523921 KATNIP Health Risk Likely pathogenic —
RS2082525102 NDUFS7 Health Risk Likely pathogenic —
RS2082528605 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2082532798 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2082534727 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082548304 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2082558148 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082559544 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Breast carcinoma
RS2082568277 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082573854 SPTB Health Risk Pathogenic/Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2082607260 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2082607494 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2082610932 LAMA3 Health Risk Likely pathogenic —
RS2082617068 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2082618262 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS2082618808 GAMT Health Risk Likely pathogenic Intellectual disability, Cerebral creatine deficiency syndrome
RS2082620820 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2082621259 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS2082622867 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS2082623593 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2082624299 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS2082632611 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2082632873 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS2082634017 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS2082638172 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082638431 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082642299 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082644196 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082644891 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082645600 ATM Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2082646632 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082646919 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082647388 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082647866 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082657747 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082658031 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082660121 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082663514 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082670823 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082671645 ROBO1 Health Risk Likely pathogenic Bilateral renal agenesis, Neurooculorenal syndrome
RS2082672268 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082673250 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082673829 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082676249 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082676596 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082679287 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082679417 ARSA Health Risk Likely pathogenic —
RS2082680103 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082680996 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082684340 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082686950 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2082687168 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082687178 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082689270 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082689435 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082690324 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082692417 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082692831 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082694047 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082694133 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS2082694697 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Inborn genetic diseases
RS2082695884 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Seizure
RS2082697802 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082698834 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2082701593 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082702986 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082703730 SPTB Health Risk Pathogenic —
RS2082710048 SPG11 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2082712944 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082714521 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2082714895 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082715392 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082716347 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082718032 SPTB Health Risk Pathogenic —
RS2082718424 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082742684 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2082749588 MLH1 Health Risk Pathogenic —
RS2082749902 SPG11 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2082751022 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082811780 TLK2 Health Risk Pathogenic —
RS2082811958 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS2082829594 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2082832384 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2082833010 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2082838403 LAMA3 Health Risk Likely pathogenic —
RS2082841677 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2082842632 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS2082843264 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082844329 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082845191 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2082857900 ST3GAL3 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2082861857 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082862502 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082867555 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082868647 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082869865 SPTB Health Risk Likely pathogenic —
RS2082872908 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082890188 DOHH Health Risk Pathogenic DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS2082897416 PRMT7 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
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