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
RS1578281706 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS1578282133 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578291638 FRAS1 Health Risk Likely pathogenic —
RS1578307302 CISD2 Health Risk Pathogenic Wolfram syndrome 2, Wolfram syndrome 2
RS1578330963 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1578380159 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1578382902 PPP3CA Health Risk Likely pathogenic —
RS1578383414 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1578388765 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1578446544 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1578450728 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1578456973 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1578485326 REST Health Risk Pathogenic —
RS1578489760 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1578490102 USP53 Health Risk Likely pathogenic Cholestasis, Cholestasis
RS1578491039 USP53 Health Risk Pathogenic Cholestasis, Cholestasis
RS1578491064 BBS12 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578491070 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1578491135 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1578499691 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1578504946 USP53 Health Risk Pathogenic Cholestasis, Cholestasis
RS1578522416 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1578528119 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1578537379 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS1578557063 AFG2A Health Risk Pathogenic —
RS1578564877 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS1578577361 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1578579501 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1578580129 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS1578609065 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1578609780 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1578611240 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1578611784 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1578612173 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1578612324 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1578642104 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS1578710903 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1578729121 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1578733075 SCARB2 Health Risk Pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS1578735709 NFKB1 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1578735747 NFKB1 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1578771120 NFKB1 Health Risk Pathogenic Common variable immunodeficiency, Immunodeficiency
RS1578771197 NFKB1 Health Risk Pathogenic Common variable immunodeficiency, Common variable immunodeficiency
RS1578771211 NFKB1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1578783532 FGB Health Risk Pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS1578785111 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS1578785260 NFKB1 Health Risk Likely pathogenic —
RS1578787945 NFKB1 Health Risk Likely pathogenic —
RS1578790573 NFKB1 Health Risk Pathogenic/Likely pathogenic Common variable immunodeficiency, Common variable immunodeficiency
RS1578793298 NFKB1 Health Risk Pathogenic Common variable immunodeficiency, Common variable immunodeficiency
RS1578793312 NFKB1 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Common variable immunodeficiency
RS1578794927 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS1578795296 FGA Health Risk Likely pathogenic Hypofibrinogenemia, Hypofibrinogenemia
RS1578795536 NFKB1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1578795880 FGA Health Risk Likely pathogenic —
RS1578796476 FGA Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS1578798730 FGA Health Risk Pathogenic —
RS1578805410 NFKB1 Health Risk Pathogenic —
RS1578809017 NFKB1 Health Risk Likely pathogenic —
RS1578809101 NFKB1 Health Risk Pathogenic Common variable immunodeficiency, Inherited Immunodeficiency Diseases
RS1578810856 FGG Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS1578811073 NFKB1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Immunodeficiency
RS1578811245 NFKB1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1578812509 FGG Health Risk Pathogenic Abnormal bleeding, Familial dysfibrinogenemia
RS1578814396 ATOH1 Health Risk Pathogenic Dominant progressive sensorineural hearing loss, Hearing loss
RS1578829160 NFKB1 Health Risk Likely pathogenic —
RS1578837249 NFKB1 Health Risk Likely pathogenic —
RS1578859390 NR3C2 Health Risk Likely pathogenic —
RS1578860254 LRAT Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578860322 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 14
RS1578868550 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578869371 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578889355 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578912362 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578912759 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1578956689 CRYGS Health Risk Pathogenic Cataract 20 multiple types, Cataract 20 multiple types
RS1578971328 LRBA Health Risk Pathogenic Inherited Immunodeficiency Diseases, Combined immunodeficiency due to LRBA deficiency
RS1578986310 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS1578996752 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS1578999313 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1579044835 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1579059727 LRBA Health Risk Likely pathogenic —
RS1579099615 TENM3 Health Risk Pathogenic MICROPHTHALMIA, SYNDROMIC 15
RS1579101697 NAA15 Health Risk Pathogenic —
RS1579109565 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1579122077 NAA15 Health Risk Pathogenic —
RS1579122878 NAA15 Health Risk Pathogenic —
RS1579123915 NAA15 Health Risk Pathogenic —
RS1579131415 UMPS Health Risk Likely pathogenic —
RS1579173999 CFI Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS1579175843 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS1579198426 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1579198447 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1579206545 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1579207748 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1579257340 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1579259095 PRDM5 Health Risk Pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1579268244 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1579283609 CPE Health Risk Pathogenic BDV syndrome, BDV syndrome
RS1579319300 GRID2 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
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