SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS868953385 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS868961188 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS868966337 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS868967798 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS868970795 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS868972342 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS868975952 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS868975969 RBP3 Health Risk Likely pathogenic —
RS868977191 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS868979094 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS868979288 PLS3 Health Risk Likely pathogenic —
RS868980404 CACNA1F Health Risk Likely pathogenic —
RS868983143 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS868984500 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS868984872 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS868985177 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS868985556 KMT2A Health Risk Pathogenic Inborn genetic diseases, Wiedemann-Steiner syndrome
RS868985739 ATP1A3 Health Risk Likely pathogenic —
RS868988809 F8 Health Risk Pathogenic —
RS868990544 XK Health Risk Pathogenic XK-related disorder, XK-related disorder
RS868991793 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2A-related disorder
RS868992080 MTM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868993459 MYO7A Health Risk Pathogenic —
RS868993843 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS868995055 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS868996072 SSR4 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS869025175 KCNK18 Health Risk Conflicting classifications of pathogenicity Migraine, with or without aura
RS869025176 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS869025177 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS869025178 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS869025179 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS869025180 EYA1 Health Risk Pathogenic Otofaciocervical syndrome 1, Melnick-Fraser syndrome
RS869025181 GPC3 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS869025182 GPC3 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 1, Thyroid cancer
RS869025183 GPC3 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS869025184 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, group F
RS869025185 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS869025188 NALCN Health Risk Pathogenic Hypotonia, infantile
RS869025189 RIT1 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 8
RS869025191 RIT1 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 8
RS869025192 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Neoplasm
RS869025193 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 8, Noonan syndrome
RS869025194 RIT1 Health Risk Pathogenic Noonan syndrome 8, Noonan syndrome
RS869025195 RIT1 Health Risk Pathogenic Noonan syndrome, Inborn genetic diseases
RS869025196 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 8
RS869025197 RIT1 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 8
RS869025198 FN1 Health Risk Pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS869025199 FN1 Health Risk Pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS869025200 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS869025201 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS869025202 FOXP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability
RS869025203 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, FOXP1-related disorder
RS869025204 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS869025205 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS869025206 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS869025207 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Retinal dystrophy
RS869025208 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS869025209 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS869025210 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS869025211 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS869025212 BAP1 Health Risk Pathogenic BAP1 Cancer Syndrome, BAP1-related tumor predisposition syndrome
RS869025213 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869025214 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS869025215 DVL3 Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 3
RS869025216 DVL3 Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 3
RS869025217 DVL3 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 3
RS869025218 DVL3 Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 3
RS869025219 DVL3 Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 3
RS869025220 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS869025221 RARB Health Risk Likely pathogenic Microphthalmia, syndromic 12
RS869025222 RARB Health Risk Pathogenic/Likely pathogenic Microphthalmia, syndromic 12
RS869025223 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS869025224 ZAP70 Health Risk Pathogenic Combined immunodeficiency, Autoimmune disease
RS869025259 MITF Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS869025262 DICER1 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, DICER1-related tumor predisposition
RS869025268 VSX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Isolated microphthalmia 2
RS869025269 STRA6 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS869025270 PTCH1 Health Risk Likely pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS869025271 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS869025272 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS869025273 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS869025274 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS869025275 XPC Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS869025276 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS869025277 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS869025278 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS869025280 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS869025281 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS869025284 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS869025285 EPB41 Health Risk Pathogenic Hereditary elliptocytosis, Hereditary elliptocytosis
RS869025286 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Intellectual disability
RS869025287 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Intellectual disability
RS869025288 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS869025289 MED13L Health Risk Pathogenic Impaired intellectual development and distinctive facial features with cardiac defects, Impaired intellectual development and distinctive facial features with cardiac defects
RS869025291 MED13L Health Risk Pathogenic Impaired intellectual development and distinctive facial features with cardiac defects, Impaired intellectual development and distinctive facial features with cardiac defects
RS869025292 PMPCA Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS869025293 PMPCA Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS869025299 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS869025300 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS869025301 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
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