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
RS772929002 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS772929618 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772929903 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS772929908 RELT Health Risk Pathogenic Amelogenesis imperfecta, type 3C
RS772929976 CDCA7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
RS772930429 TRIOBP Health Risk Pathogenic —
RS772932340 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS772932503 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS772934120 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Acyl-CoA oxidase deficiency
RS772934410 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, HMBS-related disorder
RS772935302 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS772935423 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772936359 EXOSC9 Health Risk Pathogenic —
RS772936850 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS772936861 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS772939460 P3H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, P3H2-related disorder
RS772940104 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Inborn genetic diseases
RS772941624 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS772942427 GK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GK-related disorder
RS772943251 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS772944298 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS772944531 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS772945824 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS772948115 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS772948495 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS772949649 NPR3 Health Risk Pathogenic —
RS772949800 MYO18B Health Risk Pathogenic —
RS772950053 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS772950604 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS772951826 MTR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblG, Neural tube defects
RS772953015 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS772953240 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS772953595 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS772953658 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS772953914 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS772955674 USH2A Health Risk Conflicting classifications of pathogenicity —
RS772956775 TG Health Risk Pathogenic —
RS772957495 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772957679 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS772958162 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS772958302 PSAT1 Health Risk Likely pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS772959616 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS772959965 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS772960103 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
RS772962160 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS772962304 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS772962666 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS772962847 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS772963051 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS772964680 TNFRSF10B Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS772964701 ATP5PO Health Risk Pathogenic Severe global developmental delay, Dysphagia
RS772967175 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS772967228 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS772969956 DPH1 Health Risk Pathogenic Developmental delay with short stature, dysmorphic facial features
RS772971136 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772972332 DLX3 Health Risk Conflicting classifications of pathogenicity Uterine leiomyoma, Tricho-dento-osseous syndrome
RS772972763 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS772972882 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772973856 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS772973901 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS772974041 UNC93B1 Health Risk Pathogenic Herpes simplex encephalitis, susceptibility to
RS772974254 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS772974990 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia 21, Primary ciliary dyskinesia
RS772975110 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772976948 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS772977333 TENM4 Health Risk Conflicting classifications of pathogenicity TENM4-related disorder, Tremor
RS772978107 MSR1 Health Risk Likely pathogenic —
RS772978164 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772978260 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS772978541 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS772979149 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS772979927 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS772983278 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS772983704 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS772984053 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS772984484 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS772984674 FDPS Health Risk Likely pathogenic —
RS772984704 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS772985451 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS772986332 FGFR2 Health Risk Conflicting classifications of pathogenicity Isolated Coronal Synostosis, Saethre-Chotzen syndrome
RS772987380 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772988029 DPAGT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital disorder of glycosylation
RS772988279 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS772988754 OTOA Health Risk Conflicting classifications of pathogenicity —
RS772989270 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS772989345 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS772991134 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS772991270 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS772991517 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS772991620 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772992098 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS77299211 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS772993007 WFS1 Health Risk Conflicting classifications of pathogenicity Auditory neuropathy, Autosomal dominant nonsyndromic hearing loss 6
RS772993703 NRCAM Health Risk Pathogenic NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS772993823 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS772994617 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS772994944 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS772995303 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS772995852 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS772995929 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
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