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
RS207482233 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS2074872521 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2074888 TCF3 Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS2074897929 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1
RS2074912574 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2074920676 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074923990 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074924614 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074926028 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074926931 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074927550 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia, Familial hypocalciuric hypercalcemia
RS2074927630 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074932551 CASR Health Risk Pathogenic —
RS2074934463 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2074935748 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074937924 CASR Health Risk Likely pathogenic —
RS2074938472 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1
RS2074940195 CASR Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2074944872 GPI Health Risk Pathogenic —
RS2074944986 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2074949880 CNOT3 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS2074950882 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2074970792 PRCD Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2074971229 SOX5 Health Risk Pathogenic —
RS2074979029 PRCD Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS2074979676 CYGB;PRCD Health Risk Pathogenic Retinitis pigmentosa 36, Retinitis pigmentosa 36
RS2074997790 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075001826 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2075018501 DNAH9 Health Risk Likely pathogenic —
RS2075058462 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2075071528 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2075071667 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS2075088671 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2075090666 ATP1A3 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS2075127396 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2075158686 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2075158829 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS2075159021 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99
RS2075160048 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075161300 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075161459 SMCHD1 Health Risk Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS2075161499 SMCHD1 Health Risk Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075181080 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2075181154 DHDDS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Retinitis pigmentosa 59
RS2075190697 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS2075199553 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases
RS2075207934 INPP5K Health Risk Likely pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS2075208108 CNOT3 Health Risk Pathogenic —
RS2075210211 UBA2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2075211884 UBA2 Health Risk Likely pathogenic ACCES syndrome, ACCES syndrome
RS2075214464 RSPRY1 Health Risk Pathogenic Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
RS2075237136 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS2075237416 ATP1A3 Health Risk Likely pathogenic ATP1A3-associated neurological disorder, ATP1A3-associated neurological disorder
RS2075242496 UBA2 Health Risk Likely pathogenic —
RS2075263105 INPP5K Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy with cataracts and intellectual disability, Precursor Cell Lymphoblastic Leukemia-Lymphoma
RS2075270806 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2075273330 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2075276177 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2075282065 DHDDS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2075282510 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases
RS2075284959 ATP1A3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2075291 APOA5 Health Risk Conflicting classifications of pathogenicity Hypertriglyceridemia 1, Cardiovascular phenotype
RS2075307655 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075308386 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075318017 MFF Health Risk Pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS2075320961 TMPRSS15 Health Risk Pathogenic —
RS2075357811 INPP5K Health Risk Pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS2075369142 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2075389484 ARL2BP Health Risk Likely pathogenic —
RS2075396572 SMCHD1 Health Risk Pathogenic Muscular atrophy, Muscular atrophy
RS2075426780 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2075434480 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS2075445039 TMPRSS15 Health Risk Pathogenic —
RS2075452756 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2075455200 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS2075459852 SLC24A1 Health Risk Pathogenic —
RS2075473390 TMPRSS15 Health Risk Pathogenic —
RS2075478466 UBA2 Health Risk Pathogenic Chromosome 19q13.11 deletion syndrome, distal
RS2075555029 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2075564475 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9
RS2075566961 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2075586377 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075587887 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075588188 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS2075588362 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075591559 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075591576 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075607 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2075619600 UBA2 Health Risk Likely pathogenic ACCES syndrome, ACCES syndrome
RS2075650925 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2075651835 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075652085 SMC1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Congenital muscular hypertrophy-cerebral syndrome
RS2075652654 CTNS Health Risk Pathogenic/Likely pathogenic Juvenile nephropathic cystinosis, Inborn genetic diseases
RS2075664229 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075680107 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075680329 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Thyroid cancer
RS2075681060 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075685944 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2075686139 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075687166 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
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