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
RS1064795104 EXOC6B Health Risk Likely pathogenic —
RS1064795105 SMARCA4 Health Risk Likely pathogenic —
RS1064795106 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064795108 POLR1A Health Risk Likely pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS1064795109 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1064795110 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1064795112 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1064795113 SPTA1 Health Risk Likely pathogenic See cases, See cases
RS1064795116 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795117 WWOX Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1064795118 TBL1XR1 Health Risk Pathogenic —
RS1064795119 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1064795122 SLC6A3 Health Risk Likely pathogenic —
RS1064795123 GARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064795124 OTOGL Health Risk Pathogenic/Likely pathogenic —
RS1064795125 PACS1 Health Risk Likely pathogenic —
RS1064795127 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1064795130 COL4A1 Health Risk Likely pathogenic —
RS1064795136 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1064795139 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS1064795140 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795142 KCNQ3 Health Risk Likely pathogenic —
RS1064795143 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064795147 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS1064795148 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064795152 SLC2A1 Health Risk Pathogenic —
RS1064795153 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1064795154 HK1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies
RS1064795155 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS1064795156 TSC2 Health Risk Likely pathogenic —
RS1064795158 GRIN1 Health Risk Likely pathogenic —
RS1064795159 SCN2A Health Risk Likely pathogenic —
RS1064795161 SMARCA4 Health Risk Likely pathogenic —
RS1064795164 PURA Health Risk Likely pathogenic —
RS1064795165 PURA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
RS1064795166 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064795168 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064795172 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795175 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1064795180 CAMTA1 Health Risk Pathogenic —
RS1064795183 SLC9A6 Health Risk Pathogenic —
RS1064795184 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1064795199 NBAS Health Risk Pathogenic/Likely pathogenic —
RS1064795203 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1064795205 FGF23 Health Risk Conflicting classifications of pathogenicity —
RS1064795208 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1064795212 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Abnormality of the nervous system
RS1064795213 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1064795215 CENPF Health Risk Pathogenic/Likely pathogenic Stromme syndrome, Stromme syndrome
RS1064795216 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064795217 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795219 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1064795225 EZH2 Health Risk Likely pathogenic —
RS1064795226 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1064795227 SCN1A Health Risk Likely pathogenic —
RS1064795228 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064795229 FLNC Health Risk Pathogenic Dilated Cardiomyopathy, Dominant
RS1064795230 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS1064795231 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS1064795232 NFKB2 Health Risk Likely pathogenic —
RS1064795233 OTOF Health Risk Conflicting classifications of pathogenicity Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS1064795234 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS1064795235 AP2S1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Familial hypocalciuric hypercalcemia 3
RS1064795236 SNAP29 Health Risk Likely pathogenic CEDNIK syndrome, CEDNIK syndrome
RS1064795237 PCDH19 Health Risk Likely pathogenic —
RS1064795239 SCN1A Health Risk Likely pathogenic —
RS1064795242 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1064795244 RPS29 Health Risk Likely pathogenic —
RS1064795247 SATB2 Health Risk Likely pathogenic —
RS1064795249 TUBB2A Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1064795250 AR Health Risk Likely pathogenic —
RS1064795251 VPS13B Health Risk Likely pathogenic —
RS1064795254 ACADS Health Risk Pathogenic —
RS1064795255 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, Retinitis pigmentosa 20
RS1064795256 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS1064795258 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795259 ZBTB18 Health Risk Likely pathogenic —
RS1064795261 RAD51D Health Risk Likely pathogenic —
RS1064795262 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795263 EIF2B5 Health Risk Likely pathogenic —
RS1064795264 MSH2 Health Risk Pathogenic —
RS1064795267 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1064795270 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795274 NLRC4 Health Risk Likely pathogenic —
RS1064795279 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1064795280 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1064795281 AFG3L2 Health Risk Likely pathogenic —
RS1064795282 MYO15A Health Risk Pathogenic —
RS1064795283 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1064795285 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Lymphangiomyomatosis
RS1064795286 BRCA2 Health Risk Likely pathogenic —
RS1064795287 KCNH2 Health Risk Likely pathogenic —
RS1064795290 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1064795296 RB1 Health Risk Pathogenic —
RS1064795297 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064795301 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1064795303 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795304 PIK3CA Health Risk Likely pathogenic —
RS1064795305 DYRK1A Health Risk Likely pathogenic —
RS1064795306 FOXP1 Health Risk Likely pathogenic —
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