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
RS2074119405 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS2074126696 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2074126900 RPS19 Health Risk Pathogenic —
RS2074170793 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2074173475 PIGW Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS2074181394 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074186150 MYH3 Health Risk Pathogenic/Likely pathogenic —
RS2074191627 MYH3 Health Risk Pathogenic —
RS2074248065 MYH3 Health Risk Pathogenic —
RS2074254630 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074256645 MYH3 Health Risk Likely pathogenic Distal arthrogryposis, Distal arthrogryposis
RS2074277177 WRAP53 Health Risk Likely pathogenic —
RS2074282243 MYH3 Health Risk Likely pathogenic —
RS2074282420 SNHG14;UBE3A Health Risk Likely pathogenic —
RS2074288628 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2074302214 UBE3A Health Risk Pathogenic —
RS2074311354 DNAH9 Health Risk Pathogenic —
RS2074317360 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074317922 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS2074335019 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074335877 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074344245 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074353310 MCM2 Health Risk Likely pathogenic —
RS2074357706 GP6 Health Risk Pathogenic —
RS2074369642 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074372905 IQSEC2 Health Risk Pathogenic —
RS2074373583 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074374579 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074379209 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074381038 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074381441 SMCHD1 Health Risk Conflicting classifications of pathogenicity See cases, Facioscapulohumeral muscular dystrophy 2
RS2074383129 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074383291 IQSEC2 Health Risk Pathogenic —
RS2074385548 IQSEC2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2074387117 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS2074388917 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS2074390325 KCNJ2 Health Risk Likely pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS2074401700 GTPBP3 Health Risk Pathogenic —
RS2074414994 TMC6 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2074426876 GTPBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2074437028 IQSEC2 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2074441517 SLC24A1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS2074443699 SLC24A1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2074443766 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074450400 SLC24A1 Health Risk Pathogenic —
RS2074458024 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074488502 PLP1;RAB9B Health Risk Likely pathogenic Spasticity, Spasticity
RS2074490307 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2074492359 UBE3A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2074497991 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS2074498206 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS2074504404 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2074506871 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS2074508602 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2074510916 PLP1;RAB9B Health Risk Likely pathogenic —
RS2074511604 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2074517785 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2074519196 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2074521998 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2074547544 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2074549354 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2074555124 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2074565202 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Nephrolithiasis/nephrocalcinosis
RS2074565392 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS207459999 MT-CYB Health Risk Likely pathogenic Mitochondrial encephalomyopathy, Leigh syndrome
RS207460000 MT-CYB Health Risk Likely pathogenic Exercise intolerance, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
RS207460005 MT-CYB Health Risk Likely pathogenic Parkinsonism/MELAS overlap syndrome, Mitochondrial disease
RS2074624616 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074631977 CASR Health Risk Pathogenic Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS2074634164 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074638284 CNOT3 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS2074639464 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS207465619 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2074663472 PLS3 Health Risk Likely pathogenic —
RS2074664927 PLS3 Health Risk Pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS2074682724 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS2074683444 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS2074694091 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2074694480 TMPRSS15 Health Risk Pathogenic —
RS2074705330 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS2074707744 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS2074708654 IDH3A Health Risk Likely pathogenic —
RS2074729420 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2074738818 LOC112529895;SCO1 Health Risk Likely pathogenic —
RS2074756863 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074757362 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074762701 PNKP Health Risk Likely pathogenic —
RS2074764232 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074766866 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2074768453 PNKP Health Risk Likely pathogenic —
RS2074777487 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074784617 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074787192 PNKP Health Risk Likely pathogenic —
RS2074797352 CNOT3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2074810148 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074810318 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2074810403 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074814252 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074815332 PLS3 Health Risk Likely pathogenic —
RS207482230 TFG Health Risk Pathogenic/Likely pathogenic Hereditary motor and sensory neuropathy, Okinawa type
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