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
RS1057518024 AFG3L2 Health Risk Likely pathogenic —
RS1057518026 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 29
RS1057518027 FOLR1 Health Risk Likely pathogenic —
RS1057518028 DOCK8 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1057518029 TGFB2 Health Risk Likely pathogenic —
RS1057518030 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1057518031 EXT1 Health Risk Likely pathogenic —
RS1057518032 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS1057518033 CACNA1H Health Risk Likely pathogenic —
RS1057518034 FBN1 Health Risk Likely pathogenic —
RS1057518035 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057518036 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS1057518037 TECTA Health Risk Likely pathogenic —
RS1057518038 FMR1 Health Risk Likely pathogenic —
RS1057518039 CUL4B Health Risk Likely pathogenic —
RS1057518040 MYO7A Health Risk Likely pathogenic —
RS1057518041 PIK3CA Health Risk Likely pathogenic —
RS1057518042 ABCB7 Health Risk Likely pathogenic X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS1057518043 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1057518044 TUBB2A Health Risk Likely pathogenic —
RS1057518045 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1057518046 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, Inborn genetic diseases
RS1057518047 HDAC8 Health Risk Likely pathogenic —
RS1057518048 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1057518049 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1057518050 NIPBL Health Risk Likely pathogenic —
RS1057518051 NSD1 Health Risk Likely pathogenic —
RS1057518052 NSD1 Health Risk Likely pathogenic —
RS1057518054 SMC1A Health Risk Likely pathogenic —
RS1057518056 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS1057518058 PITX3 Health Risk Likely pathogenic —
RS1057518059 ARID1B Health Risk Likely pathogenic —
RS1057518060 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1057518061 PIGN Health Risk Likely pathogenic —
RS1057518062 SCN1A Health Risk Likely pathogenic —
RS1057518063 TBL1XR1 Health Risk Likely pathogenic —
RS1057518064 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Nephronophthisis
RS1057518065 TTN Health Risk Likely pathogenic —
RS1057518066 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1057518067 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1057518068 KCNQ2 Health Risk Likely pathogenic —
RS1057518069 CACNA1A Health Risk Likely pathogenic —
RS1057518070 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057518071 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1057518073 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1057518074 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1057518075 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1057518076 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057518078 MAP2K1 Health Risk Likely pathogenic —
RS1057518080 MAP2K1 Health Risk Likely pathogenic —
RS1057518083 DYNC1H1 Health Risk Pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O
RS1057518086 ACTG1 Health Risk Likely pathogenic —
RS1057518087 CYP4F22 Health Risk Likely pathogenic —
RS1057518089 KCNH2 Health Risk Pathogenic —
RS1057518091 NIPBL Health Risk Likely pathogenic —
RS1057518092 CSNK2A1 Health Risk Conflicting classifications of pathogenicity Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder
RS1057518093 KMT2C Health Risk Pathogenic/Likely pathogenic KMT2C-related NDD, KMT2C-related NDD
RS1057518094 SCN1A Health Risk Likely pathogenic —
RS1057518095 KCNQ4 Health Risk Likely pathogenic —
RS1057518096 NOTCH1 Health Risk Likely pathogenic —
RS1057518097 RP1 Health Risk Likely pathogenic —
RS1057518098 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057518100 COL4A1 Health Risk Pathogenic —
RS1057518101 DSP Health Risk Pathogenic —
RS1057518102 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1057518103 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057518104 PKD1 Health Risk Likely pathogenic —
RS1057518105 BRAF Health Risk Conflicting classifications of pathogenicity —
RS1057518106 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057518107 PNPLA6 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1057518108 RELN Health Risk Likely pathogenic —
RS1057518109 FLNA Health Risk Likely pathogenic —
RS1057518110 SCN1A Health Risk Likely pathogenic —
RS1057518111 SCN2A Health Risk Likely pathogenic —
RS1057518113 POGZ Health Risk Likely pathogenic POGZ-related disorder, POGZ-related disorder
RS1057518114 USP9X Health Risk Pathogenic —
RS1057518115 IGF2 Health Risk Likely pathogenic —
RS1057518116 CACNA1A Health Risk Likely pathogenic —
RS1057518117 SCN2A Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1057518119 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1057518120 CTNND2 Health Risk Likely pathogenic —
RS1057518121 ZMYND11 Health Risk Likely pathogenic —
RS1057518122 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1057518123 STXBP1 Health Risk Likely pathogenic —
RS1057518124 EXOSC3 Health Risk Likely pathogenic —
RS1057518125 COL4A5 Health Risk Pathogenic/Likely pathogenic —
RS1057518126 HDAC8 Health Risk Likely pathogenic —
RS1057518128 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Seizure
RS1057518129 SCN1A Health Risk Pathogenic —
RS1057518131 SALL1 Health Risk Likely pathogenic —
RS1057518133 NSD1 Health Risk Likely pathogenic —
RS1057518134 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1057518135 ATP2A2 Health Risk Likely pathogenic —
RS1057518136 COL1A2 Health Risk Likely pathogenic —
RS1057518137 TP63 Health Risk Likely pathogenic —
RS1057518139 COL2A1 Health Risk Likely pathogenic —
RS1057518142 ACTB Health Risk Likely pathogenic —
RS1057518144 KIF11 Health Risk Pathogenic —
RS1057518147 FLCN Health Risk Pathogenic —
RS1057518149 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Malignant tumor of urinary bladder
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