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
RS1948594046 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1948627474 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1948628627 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1948630635 CAPN1 Health Risk Pathogenic —
RS1948638548 UBE4A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS1948651813 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1948651947 GRIN2B Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1948652117 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1948652423 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS1948652687 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS1948652982 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1948653017 GRIN2B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 27
RS1948677308 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1948686092 GRIN2B Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1948686521 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1948686554 GRIN2B Health Risk Likely pathogenic —
RS1948690345 SVIL Health Risk Pathogenic Myofibrillar myopathy 10, Myofibrillar myopathy 10
RS1948698590 CHD4 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS1948713322 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1948713898 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1948714266 GRIN2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1948786646 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS1948803416 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS1948821736 IQCB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1948841364 IHH Health Risk Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
RS1948841551 IHH Health Risk Likely pathogenic —
RS1948841937 IHH Health Risk Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
RS1948842030 IHH Health Risk Pathogenic Brachydactyly type A1, Acrocapitofemoral dysplasia
RS1948842142 IHH Health Risk Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
RS1948868228 IHH Health Risk Pathogenic/Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
RS1948871509 IHH Health Risk Pathogenic IHH-related disorder, IHH-related disorder
RS1948905237 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1948918434 INPPL1 Health Risk Pathogenic/Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS1948934089 HPSE2 Health Risk Likely pathogenic —
RS1948951076 INPPL1 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1948961118 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1948992593 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1949027966 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1949036008 INPPL1 Health Risk Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS1949067963 ACRBP Health Risk risk factor Neoplasm of brain, Neoplasm of brain
RS1949141890 IQCB1 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1949187852 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1949193924 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1949204312 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1949206105 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Inborn genetic diseases
RS1949225959 IQCB1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS1949262812 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949265616 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949267339 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949268068 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1949268223 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949273401 DHCR7 Health Risk Likely pathogenic —
RS1949288383 FZD4 Health Risk Pathogenic —
RS1949288787 FZD4 Health Risk Pathogenic —
RS1949297493 FZD4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1949298315 FZD4 Health Risk Pathogenic —
RS1949299271 FZD4 Health Risk Likely pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS1949299681 FZD4 Health Risk Pathogenic —
RS1949300253 FZD4 Health Risk Pathogenic —
RS1949312996 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1949313357 IQCB1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, IQCB1-related disorder
RS1949314990 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1949319877 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949320223 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949320254 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy
RS1949320441 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1949320566 FZD4 Health Risk Pathogenic —
RS1949320812 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949320966 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949321461 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1949321492 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949321538 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949322246 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949323335 FZD4 Health Risk Pathogenic —
RS1949325180 FZD4 Health Risk Pathogenic —
RS1949338513 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949342923 ACER3 Health Risk Pathogenic Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
RS1949357136 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949357539 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949359489 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1949359603 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949359779 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949360306 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949368766 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949368959 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949369220 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1949375897 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949379416 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949383242 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1949383286 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949384403 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949385207 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949389544 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949389729 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949389789 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1949419811 GRIN2B Health Risk Likely pathogenic Complex neurodevelopmental disorder, Intellectual disability
RS1949419853 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1949420231 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1949420397 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1949421055 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
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