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
RS188493184 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1884932883 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS1884934797 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS188494894 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS188498736 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS1885086608 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS188508745 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1885090034 IRF2BPL Health Risk Pathogenic —
RS1885090126 ATXN2 Health Risk Pathogenic; risk factor Spinocerebellar ataxia type 2, Parkinson disease
RS1885090179 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885090260 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885092046 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885106828 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS188511209 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS1885117995 B4GALNT1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 26
RS1885129547 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS1885132066 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885132124 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885138493 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885159527 IRF2BPL Health Risk Likely pathogenic —
RS188516326 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS1885174753 IRF2BPL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS188517529 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1885182398 IRF2BPL;LOC107984638 Health Risk Pathogenic —
RS1885185522 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885186332 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1885190050 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1885194108 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1885229622 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885230326 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188523700 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder
RS1885265714 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885266215 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885268471 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1885269233 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188527711 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS188528174 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS188529539 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, SLC46A1-related disorder
RS1885297366 DCT Health Risk Pathogenic/Likely pathogenic Albinism, Oculocutaneous albinism type 8
RS1885298359 DCT Health Risk Pathogenic Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
RS188531567 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188532608 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1885329722 TOGARAM1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 37
RS188533495 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS188534354 NRG2 Health Risk Conflicting classifications of pathogenicity Thymoma, Gastric cancer
RS1885381246 CFL2 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 7, Centronuclear myopathy
RS1885387438 CFL2 Health Risk Pathogenic Nemaline myopathy 7, CFL2-related disorder
RS1885418521 MVK Health Risk Pathogenic MVK-related disorder, Mevalonic aciduria
RS1885455089 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS188546474 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Arrhythmogenic right ventricular cardiomyopathy
RS1885473805 FANCM Health Risk Likely pathogenic FANCM-related disorder, FANCM-related disorder
RS1885485132 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS188548539 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1885502120 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1885517210 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1885521004 FANCM Health Risk Pathogenic Fanconi anemia, FANCM-related disorder
RS188555552 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188558398 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Intellectual disability
RS188563959 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS188565648 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS188566209 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1885664895 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS1885666876 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS1885671620 MVK Health Risk Likely pathogenic —
RS188568413 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS188569082 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, AP5Z1-related disorder
RS188572864 KASH5 Health Risk Pathogenic Azoospermia, Azoospermia
RS1885757549 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS1885763952 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1885777585 SOS2 Health Risk Likely pathogenic Noonan syndrome 9, Noonan syndrome 9
RS188579132 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS188580757 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS188582283 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract
RS188583221 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS1885847871 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1885850135 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS188588568 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome
RS1885895082 GALC Health Risk Pathogenic —
RS1885915172 FUT8 Health Risk Likely pathogenic Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
RS188592517 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS188598190 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, PSEN2-related disorder
RS188599299 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS188600194 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS1886008578 GALC Health Risk Pathogenic —
RS1886017689 NAXD Health Risk Pathogenic NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS188609046 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, Inborn genetic diseases
RS1886145312 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Fabry disease
RS1886145706 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886148366 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188615176 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1886161029 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS188624478 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS188625872 LMNA Health Risk Conflicting classifications of pathogenicity Lipoatrophy with Diabetes, Hepatic Steatosis
RS188634770 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1886394733 BCL11B Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886396455 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886399419 BCL11B Health Risk Pathogenic —
RS188642162 IQCE Health Risk Conflicting classifications of pathogenicity —
RS1886427331 BCL11B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual developmental disorder with speech delay
RS1886430140 BCL11B Health Risk Conflicting classifications of pathogenicity —
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