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
RS1168689294 ZNF292 Health Risk Conflicting classifications of pathogenicity —
RS1168726198 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1168737278 GARS1 Health Risk Pathogenic —
RS116874952 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS1168752295 NDUFA2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 13
RS1168752344 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1168782890 IDH3A Health Risk Pathogenic —
RS1168827071 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS1168855294 LAMB3 Health Risk Pathogenic —
RS1168863456 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1168868123 ALDH18A1 Health Risk Likely pathogenic —
RS116887602 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS1168876204 DMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dystrophin deficiency
RS1168878579 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS116888866 DSP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1168893427 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1168899671 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS116890187 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS1168903423 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS1168903863 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1168913250 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1168919288 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS116892396 MYO7A Health Risk Pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS1168929877 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1168941346 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1168944129 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1168949722 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1168976920 GREB1L Health Risk Conflicting classifications of pathogenicity GREB1L-related disorder, GREB1L-related disorder
RS1169002203 IL12RB1 Health Risk Pathogenic/Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1169005119 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1169024524 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1169032037 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1169039793 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1169048585 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1169050578 DGKE Health Risk Pathogenic —
RS1169054324 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1169072396 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS116907814 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1169081738 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1169086609 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1169090943 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1169094796 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1169095680 CEP55 Health Risk Pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS1169100731 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS116911972 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1169162396 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS116916706 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1169181885 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1169182678 LAMA3 Health Risk Pathogenic —
RS1169190081 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS1169192999 DNAJB11 Health Risk Likely pathogenic —
RS1169197181 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1169198442 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS116920018 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS116920450 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS1169211344 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1169223296 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1169227791 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS11692304 SLC9A4 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1169276398 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS116928232 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, LIPA-related disorder
RS1169289 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus
RS1169310686 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1169311005 COQ2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1169312254 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1169314384 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1169338996 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS116934613 MYO9A Health Risk Conflicting classifications of pathogenicity MYO9A-related disorder, Inborn genetic diseases
RS1169366418 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS1169371609 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1169383137 PFKM Health Risk Likely pathogenic —
RS116938457 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS1169396415 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS11694 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS116940091 PSMG2 Health Risk Conflicting classifications of pathogenicity —
RS1169402682 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS116940576 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS1169420841 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1169421274 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS1169437542 DARS2 Health Risk Pathogenic —
RS1169461493 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1169467662 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1169505007 EP300 Health Risk Conflicting classifications of pathogenicity —
RS1169538148 ARG1 Health Risk Pathogenic Arginase deficiency, ARG1-related disorder
RS1169539647 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1169546944 DOCK6 Health Risk Likely pathogenic Adams-Oliver syndrome 2, Malignant tumor of urinary bladder
RS1169563301 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS1169567113 SLC4A11 Health Risk Pathogenic —
RS1169567839 CTC1 Health Risk Pathogenic Dyskeratosis congenita, CTC1-related disorder
RS1169577591 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1169587141 RASA2 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS116959874 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS1169608420 PGAP1 Health Risk Likely pathogenic —
RS1169623576 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS1169630255 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1169647634 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1169648392 HPS3 Health Risk Pathogenic —
RS1169652308 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1169667763 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1169668668 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
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