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
RS1555761934 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555761969 CSNK2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555761997 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555762070 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555762381 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555762532 RYR1 Health Risk Likely pathogenic Rhabdomyolysis, Rhabdomyolysis
RS1555762591 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555762722 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Abnormality of the nervous system
RS1555762734 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Okur-Chung neurodevelopmental syndrome
RS1555762737 CSNK2A1 Health Risk Pathogenic —
RS1555762753 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555762855 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555762869 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1555762908 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555763090 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555763342 MAG Health Risk Likely pathogenic —
RS1555763372 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555763460 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555763503 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555763603 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Nephrotic syndrome
RS1555763642 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555763657 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555763737 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555763780 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555763943 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555763974 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555763998 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555764014 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1555764170 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555764281 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1555764460 TCF4 Health Risk Pathogenic —
RS1555764797 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555764839 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555764960 ARSG Health Risk Likely pathogenic —
RS1555764992 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1555765151 CIC Health Risk Likely pathogenic —
RS1555765524 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555765593 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1555765689 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555765701 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1555766066 BCKDHA Health Risk Likely pathogenic —
RS1555766993 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1555767028 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS1555767090 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1555767169 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1555767285 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1555767403 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1555767678 TNFRSF11A Health Risk Pathogenic Paget disease of bone 2, early-onset
RS1555767914 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1555767930 CACNA1A Health Risk Likely pathogenic —
RS1555768154 XRCC1 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 26
RS1555768365 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555768979 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1555769166 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1555769289 CIC Health Risk Pathogenic —
RS1555769544 RYR1 Health Risk Likely pathogenic —
RS1555769818 RYR1 Health Risk Likely pathogenic Distal arthrogryposis, Distal arthrogryposis
RS1555769968 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1555770200 CIC Health Risk Pathogenic —
RS1555770306 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1555770968 RYR1 Health Risk Likely pathogenic —
RS1555771571 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555772199 RYR1 Health Risk Pathogenic —
RS1555773152 CIC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555773269 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555773554 CIC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555773764 CACNA1A Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Episodic ataxia type 2
RS1555774631 SMARCA4 Health Risk Pathogenic —
RS1555774702 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555774786 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555774859 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1555775208 SNRPA Health Risk Likely pathogenic Spliceosomepathy, Spliceosomepathy
RS1555775209 SNRPA Health Risk Likely pathogenic Spliceosomepathy, Spliceosomepathy
RS1555775233 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555775416 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, ERCC2-related disorder
RS1555775708 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1555775774 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555776677 ERCC2 Health Risk Likely pathogenic —
RS1555777043 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555777086 RYR1 Health Risk Likely pathogenic —
RS1555778204 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555778709 SMARCA4 Health Risk Likely pathogenic —
RS1555778797 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1555778812 SMARCA4 Health Risk Likely pathogenic —
RS1555778828 SMARCA4 Health Risk Pathogenic —
RS1555778830 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555778883 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS1555779353 NOP56 Health Risk Pathogenic Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36
RS1555779450 RYR1 Health Risk Likely pathogenic —
RS1555779547 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555779989 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555780015 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1555780327 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1555781050 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555781271 IDH3B Health Risk Conflicting classifications of pathogenicity —
RS1555781739 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555781806 KCNC3 Health Risk Pathogenic Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13
RS1555782101 PRNP Health Risk Pathogenic CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
RS1555782724 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555782866 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
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