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
RS1941663554 GRM5 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1941669517 SPTBN2 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS1941676220 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1941676277 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1941705738 ADCY6 Health Risk Pathogenic Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
RS1941714399 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1941714443 SPTBN2 Health Risk Pathogenic —
RS1941714576 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1941717148 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941717384 MEN1 Health Risk Pathogenic —
RS1941723156 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941726727 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941733228 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941769135 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1941792521 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1941792728 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1941794175 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941815245 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1941816094 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1941816378 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1941817289 BEST1 Health Risk Likely pathogenic —
RS1941820458 BEST1;FTH1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS1941829518 MEN1 Health Risk Pathogenic/Likely pathogenic —
RS1941829953 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS1941831929 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941839852 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1941842008 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1941850919 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941851693 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941854974 MEN1 Health Risk Pathogenic —
RS1941856970 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1941861451 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1941862506 MEN1 Health Risk Likely pathogenic —
RS1941864588 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941876047 BEST1 Health Risk Pathogenic —
RS1941880096 BEST1 Health Risk Pathogenic —
RS1941898895 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1941975256 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941982919 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941992347 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1941994887 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1941995388 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS1942005110 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1942006700 MEN1 Health Risk Pathogenic —
RS1942013583 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1942026974 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1942027113 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1942117760 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1942163977 TUBA1A Health Risk Pathogenic Congenital bilateral perisylvian syndrome, Congenital fibrosis of extraocular muscles
RS1942164218 TUBA1A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles, Congenital bilateral perisylvian syndrome
RS1942164890 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Abnormal cerebral morphology
RS1942166073 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942166930 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy-associated dysgyria
RS1942168488 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942169028 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS1942169309 TUBA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1942169361 MFAP5 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 9
RS1942169629 TUBA1A Health Risk Pathogenic/Likely pathogenic Abnormal brainstem morphology, Abnormal cortical gyration
RS1942171146 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942171599 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942172546 TUBA1A Health Risk Likely pathogenic —
RS1942172759 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942173367 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942174390 TUBA1A Health Risk Pathogenic/Likely pathogenic Congenital fibrosis of extraocular muscles, Congenital fibrosis of extraocular muscles
RS1942177952 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1942181364 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942184922 TUBA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1942187200 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1942208203 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1942209287 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS1942214434 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1942231774 CFAP300 Health Risk Likely pathogenic Melanoma, Melanoma
RS1942353373 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942357670 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942367824 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942391847 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942462618 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS1942470861 SOX5 Health Risk Pathogenic —
RS1942475523 SOX5 Health Risk Pathogenic —
RS1942486898 KMT2D Health Risk Pathogenic —
RS1942494207 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942496967 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942559934 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1942575636 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942579666 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942584412 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1942587772 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1942591784 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1942593819 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS1942604482 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1942608745 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942609986 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942615152 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1942615651 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942616266 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, KMT2D-related disorder
RS1942619753 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942625813 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942629238 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942631986 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942637043 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
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