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
RS773113214 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS773113261 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS773114380 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS773114666 DDX59 Health Risk Pathogenic Orofaciodigital syndrome V, Orofaciodigital syndrome V
RS773114816 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS773115035 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS773115741 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS773116120 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS77311724 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder
RS773117459 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS773117784 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS773117913 SLC10A7 Health Risk Pathogenic Short stature, amelogenesis imperfecta
RS773119534 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS773120259 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS773120608 NDUFAF5 Health Risk Pathogenic —
RS773121159 ANO10 Health Risk Pathogenic —
RS773122600 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS773123823 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS773123973 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS773124142 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS773125415 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773125634 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS773125650 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS773125713 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773125884 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS773125891 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS773126191 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS773126401 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS773127796 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773129632 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS773132143 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS773132518 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS773132672 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS773133679 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS773134475 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS773134608 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS773134781 SKIC3 Health Risk Pathogenic —
RS773135384 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension
RS773135685 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773135734 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Inborn genetic diseases
RS773136140 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS773136421 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS773136605 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS773136934 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS773137513 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS773138218 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Inborn genetic diseases
RS773138384 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS773138393 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS773138428 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS773139115 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773139166 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, BBS7-related disorder
RS773139249 PDHA1 Health Risk Likely pathogenic —
RS773139494 TF Health Risk Likely pathogenic Atransferrinemia, Atransferrinemia
RS773140674 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS773142559 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS773142865 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RAD50-related disorder
RS773143298 COL6A2 Health Risk Conflicting classifications of pathogenicity —
RS773143381 COL9A1 Health Risk Conflicting classifications of pathogenicity COL9A1-related disorder, COL9A1-related disorder
RS773144223 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS773146110 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS77314619 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS773146728 ABHD12 Health Risk Pathogenic —
RS773146939 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS773147894 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS773148245 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773148506 FLI1 Health Risk Pathogenic Bleeding disorder platelet type macrothrombocytopenia, Bleeding disorder
RS773149531 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS773150360 TBC1D23 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 11
RS773150424 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS773151547 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS773151680 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS77315223 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS773152243 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS773153659 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS773153713 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS773153762 CASQ1 Health Risk Likely pathogenic —
RS773154173 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS773154606 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS773154665 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS773154770 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS773155491 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773156346 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis
RS773157346 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773157352 OTX2 Health Risk Pathogenic Inborn genetic diseases, Anophthalmia-microphthalmia syndrome
RS773157433 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS773157680 TRAPPC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773157876 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency
RS773159223 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS773159585 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Peripheral axonal neuropathy
RS773159964 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS773160902 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS773161130 EPS8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773161308 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS773161640 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773162178 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS773162208 AHCY Health Risk Pathogenic/Likely pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
RS773164888 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger)
RS773165378 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS773166130 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS773167797 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
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