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
RS776805534 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS776806414 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS776806501 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS776806977 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS776807257 LTBP2 Health Risk Pathogenic —
RS776807575 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776807873 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS776808559 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS77681010 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS776810546 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS776813259 SLCO2A1 Health Risk Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary
RS776813452 ZMYND8 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS776813722 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS776814144 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS776814240 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS776814755 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS776815102 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS776817244 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776817265 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776817346 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS776817542 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS776817952 FGA Health Risk Pathogenic/Likely pathogenic Hypofibrinogenemia, Familial dysfibrinogenemia
RS776818377 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS776818724 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS776819930 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS776820207 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776820509 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS776820510 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS776821664 MAPT Health Risk Conflicting classifications of pathogenicity —
RS776821944 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS776823687 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS776825183 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS776825296 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS776825316 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS776826330 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn mitochondrial myopathy
RS776826506 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS776827357 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS776827467 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS776828609 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776829633 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS776830611 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS776830736 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776830747 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS776831462 PEX3 Health Risk Pathogenic —
RS776832095 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776834867 GNRHR Health Risk Conflicting classifications of pathogenicity Isolated GnRH Deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia
RS776835054 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776836480 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS776836938 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS776837561 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS776838028 BCS1L Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
RS776838552 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776839253 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS776839411 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS776839796 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776841323 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS776841521 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS776842448 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS776842972 CTNS Health Risk Pathogenic/Likely pathogenic Cystinosis, Nephropathic cystinosis
RS776843648 GNA11 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2
RS776844136 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS776844142 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS776845008 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS776845108 FUCA1 Health Risk Pathogenic Fucosidosis, FUCA1-related disorder
RS776845391 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS776845564 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS776846313 GNAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GNAS-related disorder
RS776848753 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS776850297 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS776851287 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776851666 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS776851968 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776853600 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS776854919 GATAD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776855601 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776856200 SALL1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS776859202 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS776859837 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS776859868 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS776860184 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS776862279 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS776865296 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS776865602 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
RS776866129 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS776866974 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS77686710 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS776867749 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS776868175 AMPD2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
RS776869841 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS776869985 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS776870884 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS776871277 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS776871724 CEP152 Health Risk Pathogenic —
RS776871942 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776871966 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS776872913 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS776873207 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS776873731 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS776874142 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS776874412 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
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