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
RS1925418549 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1925420814 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925421198 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925421858 CDKL5 Health Risk Pathogenic —
RS1925423909 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS192543787 HMX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1925449605 APOO Health Risk Pathogenic Cognitive impairment and autistic features, X-­linked recessive mitochondrial myopathy
RS1925492354 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925492808 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1925493252 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192553687 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1925561449 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1925573011 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925574557 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925577525 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192561791 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS192567788 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1925696959 CDKL5 Health Risk Pathogenic/Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1925697105 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1925697823 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1925701271 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925702601 CDKL5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS192570479 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1925705674 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1925715512 PI4KA Health Risk Pathogenic Spastic paraplegia 84, autosomal recessive
RS1925730100 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Nephrolithiasis/nephrocalcinosis
RS1925733148 PRPS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1925845195 POU3F4 Health Risk Pathogenic —
RS1925845638 POU3F4 Health Risk Pathogenic —
RS192586920 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS192587828 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1925886368 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1925886715 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS192592067 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS192592111 PAH Health Risk Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS192594614 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS192602787 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS192607073 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1926076502 TIMM8A Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1926076610 TIMM8A Health Risk Conflicting classifications of pathogenicity Deafness dystonia syndrome, Deafness dystonia syndrome
RS1926078505 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926080187 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926080344 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS192609440 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS192610957 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS192618681 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS192619553 CFAP53 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1926202120 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1926202704 CHM Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1926207659 CHM Health Risk Pathogenic —
RS1926208067 CHM Health Risk Pathogenic Retinal dystrophy, CHM-related disorder
RS1926208868 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS192620988 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1926219727 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926220192 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS192624334 TBCD Health Risk Pathogenic —
RS1926253608 CHM Health Risk Pathogenic —
RS1926254082 CDKL5 Health Risk Pathogenic —
RS1926255341 CDKL5 Health Risk Pathogenic —
RS1926261579 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926262196 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926263167 CHM Health Risk Pathogenic —
RS1926264984 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1926267493 CHM Health Risk Pathogenic —
RS1926283743 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926283887 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192628905 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1926294168 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926298368 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926298521 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS192630178 TNNI3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7
RS1926301954 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192630206 TMPRSS3 Health Risk Conflicting classifications of pathogenicity —
RS1926303951 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926305134 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926352588 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926354581 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926358858 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS1926378381 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926380106 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1926380816 BTK Health Risk Pathogenic —
RS1926386296 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS192639023 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, MYO18B-related disorder
RS192640017 EPHB4 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 7, Capillary malformation-arteriovenous malformation 2
RS1926403854 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1926404279 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926404536 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS192640536 ACTN1 Health Risk Likely pathogenic Abnormal bleeding, Thrombocytopenia
RS192644838 SIGMAR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS1926450614 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926471092 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1926473501 CDKL5 Health Risk Pathogenic Seizure, Seizure
RS1926476615 CDKL5 Health Risk Likely pathogenic —
RS1926476996 BTK Health Risk Pathogenic —
RS1926477495 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926485817 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS1926485824 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS1926487809 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS192650285 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS1926503277 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
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