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
RS181109105 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, OTOGL-related disorder
RS1811091915 PTDSS1 Health Risk Likely pathogenic Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
RS181109321 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, ATAXIA
RS1811114545 ABCB4 Health Risk Likely pathogenic —
RS181112338 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1811144443 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181115510 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS1811166166 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS1811177590 PTDSS1 Health Risk Conflicting classifications of pathogenicity Lenz-Majewski hyperostosis syndrome, Inborn genetic diseases
RS1811191593 GRHL2 Health Risk Conflicting classifications of pathogenicity —
RS1811203974 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1811207509 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS181121175 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Bardet-Biedl syndrome 14
RS1811214899 CHD7;LOC126860403 Health Risk Pathogenic —
RS1811220142 CHD7 Health Risk Likely pathogenic Congenital heart disease (variable), Congenital heart disease (variable)
RS1811228521 ANK1 Health Risk Likely pathogenic —
RS1811255718 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1811286829 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1811318008 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS181134220 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS181137206 PDE6G Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1811373750 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1811379645 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181140276 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1811450828 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811450946 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181146384 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1811464271 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811464751 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181146743 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1811467593 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1811497703 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811498255 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811506628 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811576779 CA2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS181157785 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS181158146 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS181161119 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1811644695 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS181165794 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS181166140 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS181169439 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1811766430 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS181184794 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1811856716 CFAP418 Health Risk Pathogenic Cone-rod dystrophy 16, Cone-rod dystrophy 16
RS1811862598 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1811862674 NBN Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1811862827 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811863055 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811864250 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1811864784 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811865335 EXT1 Health Risk Pathogenic Chondrosarcoma, Multiple congenital exostosis
RS1811867338 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS181186746 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS1811869155 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1811889441 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1811890821 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1811892597 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811893325 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811893467 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS181189778 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1811902928 CSMD1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS181190579 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS181192122 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1811931460 CFAP418 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Cone-rod dystrophy 16
RS181193740 RIMS1 Health Risk Conflicting classifications of pathogenicity RIMS1-related disorder, RIMS1-related disorder
RS1811940788 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811940837 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811940928 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811941012 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811942117 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811942574 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811942900 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811943921 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1811943967 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS181195449 RNU4ATAC Health Risk Pathogenic/Likely pathogenic Osteodysplastic primordial dwarfism, type 1
RS1811957737 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1811964183 ZFPM2 Health Risk Likely pathogenic ZFPM2-related disorder, ZFPM2-related disorder
RS1812023357 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1812023981 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS181206306 COL17A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181206334 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1812075737 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812076915 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812076996 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812077295 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812077342 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812078315 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1812078423 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS181208607 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1812139426 NBN Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Microcephaly
RS1812140936 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1812147849 IKZF1 Health Risk Conflicting classifications of pathogenicity —
RS1812158350 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1812167147 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1812172495 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS1812173037 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812173838 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812174128 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812193678 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
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