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
RS2148497926 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148498706 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148498736 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2148498765 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2148504379 CSF2RA Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2148504421 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2148505406 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148507566 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148509595 CHRDL1 Health Risk Pathogenic Isolated congenital megalocornea, Isolated congenital megalocornea
RS2148509772 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS2148510791 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148511632 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2148511870 MTM1 Health Risk Pathogenic Generalized hypotonia, Generalized hypotonia
RS2148511944 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148511970 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2148512263 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2148512343 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2148512428 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2148514247 DEPDC5 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2148514430 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS2148514762 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS2148515004 AVPR2 Health Risk Pathogenic —
RS2148515040 AVPR2 Health Risk Pathogenic —
RS2148515160 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS2148518682 MACF1 Health Risk Pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS2148521475 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2148521621 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS2148521639 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2148521826 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2148522316 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2148522538 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2148522723 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2148523055 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2148523379 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2148523658 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2148524462 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2148529666 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2148530498 MYT1L Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148531451 ADGRG1 Health Risk Pathogenic —
RS2148534324 NAA10 Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 1
RS2148535042 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS2148535236 NAA10 Health Risk Conflicting classifications of pathogenicity Ogden syndrome, Ogden syndrome
RS2148535277 NAA10 Health Risk Likely pathogenic —
RS2148536705 NAA10 Health Risk Likely pathogenic —
RS2148537138 NAA10 Health Risk Conflicting classifications of pathogenicity Ogden syndrome, Microphthalmia
RS2148537151 NAA10 Health Risk Conflicting classifications of pathogenicity —
RS2148537359 NCDN Health Risk Likely pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS2148537524 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2148538021 NCDN Health Risk Likely pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS2148538836 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS2148539394 NCDN Health Risk Pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS2148540536 ADGRG1 Health Risk Pathogenic —
RS2148540548 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148540742 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148541048 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148541841 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148542989 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148544061 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148546998 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2148549478 SBF1 Health Risk Likely pathogenic —
RS2148550523 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148550585 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148551084 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148551102 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148552377 CD40LG Health Risk Pathogenic —
RS2148552379 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148552406 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Nonpapillary renal cell carcinoma
RS2148552407 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148552412 CD40LG Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148552941 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148553684 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148553738 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148553773 CD40LG Health Risk Likely pathogenic —
RS2148553785 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2148554043 HCFC1 Health Risk Pathogenic —
RS2148555575 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2148555597 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2148556437 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS2148556497 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS2148556854 ZBTB18 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148557361 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2148557375 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS2148557671 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2148557675 ZBTB18 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 22
RS2148557761 ZBTB18 Health Risk Pathogenic ZBTB18-related intellectual disability, ZBTB18-related intellectual disability
RS2148557787 ZBTB18 Health Risk Conflicting classifications of pathogenicity ZBTB18-related disorder, Intellectual disability
RS2148559396 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2148563899 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148563935 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148564018 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148564212 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148567338 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2148568062 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Thyroid cancer
RS2148570601 AVP Health Risk Pathogenic Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS2148571400 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148571595 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148571670 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148571757 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148571870 AVP Health Risk Pathogenic Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS2148573004 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
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