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
RS1281345070 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1281349835 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1281361203 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS1281390253 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1281391844 FRAS1 Health Risk Pathogenic —
RS1281396824 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1281406250 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1281410534 FLG Health Risk Likely pathogenic FLG-related disorder, FLG-related disorder
RS1281421540 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1281424301 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1281446470 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS12814488 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS1281469151 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1281488157 TTN Health Risk Likely pathogenic —
RS1281490675 GABRA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 78
RS1281493996 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS1281505890 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1281515662 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1281520681 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS1281525479 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1281526839 DHTKD1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria
RS1281532146 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1281538226 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1281540872 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1281542312 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1281559792 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1281567980 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1281572845 INS-IGF2 Health Risk Conflicting classifications of pathogenicity —
RS1281593181 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1281598461 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS1281603759 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1281626933 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1281635283 DNAH9 Health Risk Likely pathogenic —
RS1281648597 CIB2 Health Risk Conflicting classifications of pathogenicity Melanoma, Melanoma
RS1281667531 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1281680153 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1281685502 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1281690554 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1281695642 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1281712444 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1281715394 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1281719451 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1281725083 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 3, Nephronophthisis
RS1281741862 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1281743095 COL2A1 Health Risk Likely pathogenic —
RS1281745640 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1281747723 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1281773356 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS1281778614 TMEM67 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome 6
RS1281779370 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1281781442 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1281790755 TECTA Health Risk Pathogenic Deafness, neurosensory autosomal recessive 21
RS1281817400 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1281835164 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1281849633 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1281862962 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1281875506 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1281877795 MTIF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1281893880 TMEM43 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1281896947 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome
RS1281899571 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1281918775 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1281943901 MME Health Risk Likely pathogenic —
RS1281948334 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1281959115 LRP5 Health Risk Likely pathogenic —
RS1281962144 NPHS1 Health Risk Likely pathogenic —
RS1281970248 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1281977096 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1281995042 GATAD1;PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS1282005622 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1282031681 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1282033456 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS1282036381 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1282045990 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1282065754 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1282078643 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1282099124 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1282116285 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1282117438 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANK2-related disorder
RS1282146892 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1282190742 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1282205691 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1282221978 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1282223546 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1282229623 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1282230077 NRXN1 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Pitt-Hopkins-like syndrome 2
RS1282233748 KLF1 Health Risk Likely pathogenic —
RS1282248700 RAB3GAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1282249251 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1282255458 KCNJ11 Health Risk Conflicting classifications of pathogenicity —
RS1282293820 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1282296585 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1282299543 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1282317175 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1282347222 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1U
RS1282349760 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1282365060 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1282370486 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation
RS1282376513 KIZ Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 69
RS1282394804 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
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