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
RS1555632182 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555632971 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1555632977 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555632994 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555633118 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555633309 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555633326 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555633361 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555633454 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1555633697 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634236 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634422 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634508 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634513 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634618 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1555634640 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1555634676 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1555634690 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555634739 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555635144 SMCHD1 Health Risk Pathogenic —
RS1555635550 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1555635668 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1555635778 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1555635925 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1555635957 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555636659 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555636685 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1555636712 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555637139 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555637164 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555637232 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555637255 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1555637433 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555637555 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555637675 ODAD4 Health Risk Likely pathogenic ODAD4-related disorder, ODAD4-related disorder
RS1555637830 ODAD4 Health Risk Pathogenic ODAD4-related disorder, ODAD4-related disorder
RS1555638052 PIEZO2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555638058 PIEZO2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555638141 CACNA1G Health Risk Likely pathogenic —
RS1555638409 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555638622 DSC2 Health Risk Likely pathogenic —
RS1555638833 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555638882 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1555638995 DSC2 Health Risk Likely pathogenic —
RS1555639076 BPTF Health Risk Pathogenic Inborn genetic diseases, Secondary microcephaly
RS1555639134 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555639254 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS1555639317 TLK2 Health Risk Pathogenic —
RS1555639411 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly
RS1555639568 PIEZO2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555639919 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1555640396 DSC2 Health Risk Likely pathogenic —
RS1555640399 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555640521 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS1555641027 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555641037 NPC1 Health Risk Pathogenic —
RS1555641322 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1555641324 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1555642277 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1555642296 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555642347 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1555642784 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS1555643185 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS1555643304 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1555643912 ALOX12B Health Risk Pathogenic/Likely pathogenic —
RS1555644339 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1555644470 TSEN54 Health Risk Pathogenic/Likely pathogenic —
RS1555644480 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1555644694 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS1555645630 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1555646537 GNAL Health Risk Likely pathogenic —
RS1555646987 SMAD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555647262 WDR45B Health Risk Pathogenic Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
RS1555647265 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1555647548 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1555648043 GREB1L Health Risk Pathogenic Inner ear malformation, Hearing loss
RS1555648288 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1555648414 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, MYO5B-related disorder
RS1555648558 PPM1D Health Risk Pathogenic —
RS1555648564 PPM1D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555648565 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1555648570 PPM1D Health Risk Pathogenic —
RS1555649009 PPM1D Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Inborn genetic diseases
RS1555649011 PPM1D Health Risk Likely pathogenic —
RS1555649346 TBCD Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1555649483 BPTF Health Risk Pathogenic Secondary microcephaly, Expressive language delay
RS1555649811 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555650110 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555650923 TGIF1 Health Risk Pathogenic Holoprosencephaly 4, Holoprosencephaly 4
RS1555651112 TGIF1 Health Risk Likely pathogenic —
RS1555651572 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1555651730 SMCHD1 Health Risk Pathogenic —
RS1555652383 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly
RS1555652826 BPTF Health Risk Likely pathogenic —
RS1555654127 SMCHD1 Health Risk Pathogenic —
RS1555655146 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1555657045 FZD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1555657073 FZD2 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 3, Autosomal dominant omodysplasia
RS1555657074 FZD2 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1555658551 LAMA1 Health Risk Likely pathogenic —
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