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
RS770267750 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS770268061 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS770268627 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Stargardt disease 4
RS770269674 VLDLR Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS770270286 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770270376 TMEM63B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770271653 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS770271683 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS770271840 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS770272033 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS770272088 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS770273135 ACADM Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS770273286 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS770273328 MPDZ Health Risk Pathogenic —
RS770273498 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770275584 PIK3CD Health Risk Conflicting classifications of pathogenicity Immunodeficiency 14, Inborn genetic diseases
RS770276164 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS770276275 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS770276731 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS770276976 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS770277291 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS770277446 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS770278572 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS770279237 WDR81 Health Risk Pathogenic Hydrocephalus, congenital
RS770279302 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS770279400 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS770279669 EIF2AK4 Health Risk Pathogenic/Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS770280073 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS770282862 MYO15A Health Risk Likely pathogenic —
RS770282904 DNAJC21 Health Risk Pathogenic Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3
RS770283117 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS770284500 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS770284675 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Polycystic kidney disease 8
RS770284737 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS770285398 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Inborn genetic diseases
RS770286295 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS770286670 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS770286768 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Pancreatic adenocarcinoma
RS770286824 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS770287561 SMPX Health Risk Pathogenic Myopathy, distal
RS770288337 HAX1 Health Risk Pathogenic Kostmann syndrome, Inborn genetic diseases
RS770290221 KCNQ2 Health Risk Likely pathogenic —
RS770290260 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS770290837 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS770291169 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Meckel-Gruber syndrome
RS770291257 RIGI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770291326 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS77029288 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS770293321 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to melanocortin 4 receptor deficiency
RS770293341 USH2A Health Risk Pathogenic —
RS770293441 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Vitelliform macular dystrophy 2
RS770294938 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS770295047 MED11 Health Risk Pathogenic Neurodegeneration with developmental delay, early respiratory failure
RS770295146 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS770296270 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Inborn genetic diseases
RS770297337 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS770297402 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS770297822 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS770298942 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS770299071 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS770302939 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS770302956 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Amelogenesis imperfecta type 1A
RS770303210 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS770303471 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS770303749 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS770304825 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS770305758 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS770305875 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS770306507 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS770306587 NPHP4 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS770306617 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS770306950 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770308128 MAK Health Risk Pathogenic —
RS770308463 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS770308917 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS770309992 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS770310531 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS770310729 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS770311259 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS770311534 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS770311615 LAMC3 Health Risk Pathogenic/Likely pathogenic —
RS770311689 SACS Health Risk Pathogenic Hereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS770312041 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS770312128 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Retinal dystrophy
RS770312150 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS770314412 SLC26A5 Health Risk Conflicting classifications of pathogenicity —
RS770314806 PNPLA8 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS770315135 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Lung cancer
RS770315969 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS770317221 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS770317560 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS770317876 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS770318536 TK2 Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Mitochondrial disease
RS770318990 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS770320798 DPYD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770321568 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS770322736 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS770322996 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS770323479 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS770323488 CIC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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