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
RS1554920854 INS Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS1554920985 INS Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS1554921759 HBG1 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS1554922054 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554922200 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554922434 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554922441 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554922455 HBG2 Health Risk Likely pathogenic —
RS1554922593 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554922725 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923004 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923121 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923218 TH Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive DOPA responsive dystonia
RS1554923305 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923317 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923513 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923802 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923810 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923852 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554923999 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554924035 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1554924079 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554924142 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554924321 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554924356 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1554924357 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1554924412 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554924540 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1554925904 LOC101928008;SBF2 Health Risk Likely pathogenic —
RS1554926476 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1554926539 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554927050 ANO5 Health Risk Likely pathogenic —
RS1554927408 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, 11 conditions
RS1554928786 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1554928884 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, Pfeiffer syndrome
RS1554928978 FGFR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554929292 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia
RS1554929301 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1554930267 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1554930314 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1554930637 FGFR2 Health Risk Pathogenic Beare-Stevenson cutis gyrata syndrome, Beare-Stevenson cutis gyrata syndrome
RS1554930679 ZEB1 Health Risk Pathogenic —
RS1554930790 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1554931219 BDNF Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554933168 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554933565 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1554933716 ANO5 Health Risk Pathogenic —
RS1554933746 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1554933751 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1554933780 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1554933800 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1554933929 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1554934073 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554934109 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554934193 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1554934210 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554934212 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1554934241 SMPD1 Health Risk Pathogenic —
RS1554934309 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554934406 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935116 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1554935136 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1554935254 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935273 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935285 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935439 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935456 EBF3 Health Risk Pathogenic —
RS1554935464 EBF3 Health Risk Pathogenic —
RS1554935484 EBF3 Health Risk Pathogenic —
RS1554935555 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935600 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935610 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1554935669 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1554935746 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1554937243 EBF3 Health Risk Pathogenic —
RS1554937249 EBF3 Health Risk Pathogenic —
RS1554937698 CDKN1C Health Risk Likely pathogenic IMAGe syndrome, IMAGe syndrome
RS1554937726 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554937790 CDKN1C Health Risk Pathogenic —
RS1554937847 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554937999 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554938069 CDKN1C Health Risk Pathogenic —
RS1554938087 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554938194 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554938197 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554939072 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1554939189 WT1 Health Risk Likely pathogenic —
RS1554939785 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS1554939839 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1554940316 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS1554940478 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS1554941241 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS1554943158 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS1554943492 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1554943789 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS1554944271 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS1554944527 DEAF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554944856 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1554944877 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1554945031 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
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