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
RS483352880 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352881 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352882 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS483352883 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352884 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352885 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352886 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352887 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352888 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS483352889 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352890 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS483352891 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS483352893 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS483352894 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS483352895 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS483352896 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS483352897 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS483352898 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS483352899 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS483352900 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS483352901 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS483352902 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS483352903 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS483352904 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS483352905 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS483352906 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS483352907 NEK1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, NEK1-related disorder
RS483352908 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS483352909 POLE Health Risk Pathogenic Colorectal cancer, susceptibility to
RS483352910 SLC25A1 Health Risk Likely pathogenic D, L-2-hydroxyglutaric aciduria
RS483352911 SLC25A1 Health Risk Pathogenic/Likely pathogenic 2-hydroxyglutaric aciduria, D
RS483352913 ADAM10 Health Risk Pathogenic Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
RS483352914 ADAM10 Health Risk Pathogenic Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
RS483352915 ADAM10 Health Risk Pathogenic Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
RS483352916 ADAM10 Health Risk Pathogenic Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
RS483352917 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS483352918 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS483352919 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS483352920 SCN11A Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 7, Hereditary sensory and autonomic neuropathy type 7
RS483352921 SCN11A Health Risk Likely pathogenic Familial episodic pain syndrome with predominantly lower limb involvement, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS483352922 TBC1D7 Health Risk Pathogenic Macrocephaly/megalencephaly syndrome, autosomal recessive
RS483352923 REEP2 Health Risk Pathogenic Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
RS483352924 REEP2 Health Risk Pathogenic Spastic paraplegia 72b, autosomal recessive
RS483352925 REEP2 Health Risk Pathogenic Spastic paraplegia 72b, autosomal recessive
RS483352926 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS483352927 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS483352928 CD3E Health Risk Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS483352929 CD3E Health Risk Pathogenic Immunodeficiency 18, severe combined immunodeficiency variant
RS483352930 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS483352970 CDKN1C Health Risk Pathogenic/Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483352971 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483352987 CDKN1C Health Risk Pathogenic —
RS483352988 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483352989 CDKN1C Health Risk Pathogenic IMAGe syndrome, IMAGe syndrome
RS483352991 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483352993 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483352997 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS483353013 LRP1 Health Risk Pathogenic Atrophoderma vermiculatum, Keratosis pilaris
RS483353016 SCN5A Health Risk Pathogenic Brugada syndrome, Cardiovascular phenotype
RS483353022 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353023 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353024 HNRNPA1 Health Risk Likely pathogenic Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis
RS483353028 HNRNPA1 Health Risk Pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353029 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353030 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353031 HNRNPA1 Health Risk Pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353032 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353033 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353034 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353035 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353036 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353038 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353039 HNRNPA1 Health Risk Likely pathogenic Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
RS483353044 HNF1A Health Risk Pathogenic Type 1 diabetes mellitus 20, Type 1 diabetes mellitus 20
RS483353045 CHRNE Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS483353046 CHRNA1 Health Risk Conflicting classifications of pathogenicity Slow-Channel Congenital Myasthenia Syndrome, Slow-Channel Congenital Myasthenia Syndrome
RS483353047 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS483353048 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS483353049 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS483353050 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS483353054 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS483353055 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS483353056 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS483353057 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS483353058 SOX10 Health Risk Likely pathogenic PCWH syndrome, PCWH syndrome
RS483353059 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS483353063 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353064 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353065 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353066 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353067 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS483353068 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353069 ZBTB20 Health Risk Pathogenic/Likely pathogenic Primrose syndrome, Inborn genetic diseases
RS483353070 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS483353071 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS483353072 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS483353073 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS483353074 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS483353077 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast neoplasm
RS483353078 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
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