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
RS2102636068 USH2A Health Risk Pathogenic —
RS2102636076 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102636085 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102637431 IL23R Health Risk Conflicting classifications of pathogenicity —
RS2102637875 LMX1A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS2102638530 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2102638590 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2102638612 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2102638625 FBXO28 Health Risk Likely pathogenic —
RS2102638631 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2102639360 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2102640989 USH2A Health Risk Pathogenic —
RS2102641279 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2102642087 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102643165 USH2A Health Risk Pathogenic —
RS2102643210 USH2A Health Risk Pathogenic —
RS2102644733 USH2A Health Risk Pathogenic —
RS2102644788 USH2A Health Risk Pathogenic —
RS2102644805 USH2A Health Risk Pathogenic —
RS2102644832 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102644857 USH2A Health Risk Pathogenic —
RS2102647752 NUAK2 Health Risk Pathogenic Anencephaly 2, Anencephaly 2
RS2102650567 DEGS1 Health Risk Likely pathogenic —
RS2102650681 USH2A Health Risk Pathogenic —
RS2102651720 PAPPA2 Health Risk Pathogenic Short stature, Dauber-Argente type
RS2102654383 USH2A Health Risk Pathogenic —
RS2102655189 USH2A Health Risk Pathogenic —
RS2102655666 USH2A Health Risk Pathogenic —
RS2102655700 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2102655719 USH2A Health Risk Pathogenic —
RS2102655994 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102656066 DEGS1 Health Risk Pathogenic —
RS2102656270 USH2A Health Risk Pathogenic —
RS2102656326 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, USH2A-related disorder
RS2102658561 DEGS1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS2102658759 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102658764 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2102658767 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102658827 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102661156 USH2A Health Risk Pathogenic —
RS2102661164 USH2A Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS2102661189 USH2A Health Risk Pathogenic —
RS2102661201 USH2A Health Risk Pathogenic —
RS2102661317 USH2A Health Risk Likely pathogenic Usher syndrome, Retinitis pigmentosa 39
RS2102661344 USH2A Health Risk Pathogenic —
RS2102661452 USH2A Health Risk Pathogenic —
RS2102664474 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102664776 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102664808 USH2A Health Risk Pathogenic —
RS2102664886 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102664921 USH2A Health Risk Pathogenic —
RS2102665272 USH2A Health Risk Pathogenic —
RS2102665279 USH2A Health Risk Pathogenic —
RS2102665314 USH2A Health Risk Pathogenic —
RS2102665328 USH2A Health Risk Pathogenic —
RS2102665356 USH2A Health Risk Pathogenic —
RS2102665385 USH2A Health Risk Likely pathogenic —
RS2102665496 USH2A Health Risk Pathogenic —
RS2102665526 USH2A Health Risk Pathogenic —
RS2102665766 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102665930 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102665932 USH2A Health Risk Pathogenic —
RS2102666136 USH2A Health Risk Pathogenic —
RS2102666300 USH2A Health Risk Pathogenic —
RS2102666433 USH2A Health Risk Pathogenic —
RS2102666781 USH2A Health Risk Pathogenic —
RS2102666887 USH2A Health Risk Pathogenic —
RS2102667066 USH2A Health Risk Likely pathogenic —
RS2102667069 USH2A Health Risk Pathogenic —
RS2102671641 USH2A Health Risk Pathogenic —
RS2102671802 USH2A Health Risk Pathogenic —
RS2102672664 PYCR2 Health Risk Pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS2102672881 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS2102672892 PYCR2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS2102676931 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2102681464 SNX27 Health Risk Likely pathogenic See cases, See cases
RS2102682130 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, 69
RS2102689621 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2102689660 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2102690228 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2102708440 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102708663 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102713275 USH2A Health Risk Likely pathogenic —
RS2102713360 USH2A Health Risk Pathogenic —
RS2102713573 USH2A Health Risk Pathogenic —
RS2102713621 USH2A Health Risk Pathogenic —
RS2102713688 USH2A Health Risk Pathogenic —
RS2102713705 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102713794 USH2A Health Risk Pathogenic —
RS2102718189 CACNA1E Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS2102723150 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS2102724265 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2102725799 USH2A Health Risk Likely pathogenic —
RS2102727387 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102727580 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2102735014 ACTA1 Health Risk Likely pathogenic ACTA1-related myopathies, ACTA1-related myopathies
RS2102735031 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735038 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS2102735175 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735270 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
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