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
RS1319458719 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1319481399 POLG Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS1319489001 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1319491415 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1319501039 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1319508199 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS1319513413 TIAM1 Health Risk Pathogenic Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
RS1319523217 NBAS Health Risk Pathogenic —
RS1319547380 AARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1319548654 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1319550069 ITGB4 Health Risk Pathogenic —
RS1319555177 LOXHD1 Health Risk Pathogenic —
RS1319557765 HOXA13 Health Risk Conflicting classifications of pathogenicity Hand-foot-genital syndrome, Guttmacher syndrome
RS1319576439 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1319627398 PDE6B Health Risk Likely pathogenic —
RS1319643225 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS1319646518 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic/Likely pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1319653117 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1319653705 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1319653818 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1319691084 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1319705053 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1319735007 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1319739012 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS1319747883 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1319752625 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1319755767 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1319771049 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1319778592 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1319783283 PCLO Health Risk Pathogenic —
RS1319785257 MICU1 Health Risk Pathogenic —
RS1319786857 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1319792525 WFS1 Health Risk Pathogenic —
RS1319818753 SFTPA2 Health Risk Likely pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS1319833991 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1319844752 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS1319872290 POLE Health Risk Pathogenic —
RS1319877486 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1319888327 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1319889867 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1319907329 CCDC47 Health Risk Pathogenic Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
RS1319910280 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1319912400 CDKN1B Health Risk Likely pathogenic —
RS1319938730 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1319938948 ZNF469 Health Risk Pathogenic —
RS1319954878 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1320012238 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS1320040467 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1320050201 MAK Health Risk Pathogenic —
RS1320061495 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1320075163 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1320076769 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1320106244 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1320114611 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS1320125389 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS1320154351 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1320173977 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1320177911 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1320184173 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1320208623 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1320218400 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Gastric cancer
RS1320246121 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1320278331 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1320283995 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS1320317596 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1320323871 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1320325015 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1320326326 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1320329216 PCDHGC4 Health Risk Pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS1320349488 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1320366310 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1320367366 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic ataxia
RS1320376090 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1320387840 CUX1 Health Risk Conflicting classifications of pathogenicity Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1320400029 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1320401077 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1320406415 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1320406417 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1320406513 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS1320417829 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1320425016 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1320434721 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1320456072 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1320466105 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1320473430 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1320483615 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS1320510912 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1320531023 SCN5A Health Risk Pathogenic Brugada syndrome, Cardiac arrhythmia
RS1320536163 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1320543506 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1320549584 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS1320568689 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1320581229 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1320588121 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1320594065 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1320610655 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1320628240 TRIM32 Health Risk Likely pathogenic —
RS1320661924 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS1320663265 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1320697469 MYO15A Health Risk Conflicting classifications of pathogenicity —
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