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
RS1064796097 SACS Health Risk Likely pathogenic —
RS1064796100 ASXL1 Health Risk Pathogenic —
RS1064796101 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064796104 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1064796105 FLG Health Risk Pathogenic —
RS1064796108 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064796109 CRX Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1064796112 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796113 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1064796114 NSD1 Health Risk Pathogenic —
RS1064796115 FOXN1 Health Risk Likely pathogenic T-cell lymphopenia, infantile
RS1064796121 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796122 ALPK3 Health Risk Pathogenic —
RS1064796123 SCN2A Health Risk Likely pathogenic —
RS1064796124 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1064796125 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1064796126 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1064796128 PTEN Health Risk Likely pathogenic —
RS1064796130 MYO7A Health Risk Likely pathogenic —
RS1064796131 CPLANE1 Health Risk Pathogenic —
RS1064796134 TCF4 Health Risk Likely pathogenic —
RS1064796137 NF1 Health Risk Likely pathogenic —
RS1064796139 TTN Health Risk Likely pathogenic Cardiovascular phenotype, 6 conditions
RS1064796140 POLE Health Risk Conflicting classifications of pathogenicity —
RS1064796145 ATP6V0A4 Health Risk Pathogenic ATP6V0A4-related disorder, ATP6V0A4-related disorder
RS1064796146 CAMTA1 Health Risk Pathogenic/Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1064796151 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064796152 POLE Health Risk Conflicting classifications of pathogenicity —
RS1064796154 NALCN Health Risk Pathogenic —
RS1064796155 WRAP53 Health Risk Likely pathogenic —
RS1064796156 RAI1 Health Risk Pathogenic —
RS1064796161 NSD1 Health Risk Pathogenic —
RS1064796162 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1064796170 COL2A1 Health Risk Likely pathogenic —
RS1064796177 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064796181 SETBP1 Health Risk Pathogenic —
RS1064796183 WDR81 Health Risk Pathogenic —
RS1064796184 NSD1 Health Risk Pathogenic —
RS1064796186 TTN Health Risk Pathogenic —
RS1064796190 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064796192 EXT2 Health Risk Pathogenic —
RS1064796196 CHD7 Health Risk Likely pathogenic —
RS1064796199 CACNA1A Health Risk Pathogenic —
RS1064796200 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS1064796203 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1064796209 RAI1 Health Risk Pathogenic —
RS1064796210 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1064796212 COQ6 Health Risk Pathogenic/Likely pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1064796213 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064796221 CNTNAP2 Health Risk Pathogenic —
RS1064796222 NSD1 Health Risk Pathogenic —
RS1064796224 UBE3A Health Risk Pathogenic —
RS1064796227 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1064796228 DYNC2H1 Health Risk Likely pathogenic —
RS1064796229 PAFAH1B1 Health Risk Likely pathogenic —
RS1064796230 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796231 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1064796232 RASA1 Health Risk Pathogenic —
RS1064796233 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS1064796236 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1064796237 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1064796239 TPM2 Health Risk Likely pathogenic —
RS1064796240 CTNNB1 Health Risk Likely pathogenic —
RS1064796241 PKP2 Health Risk Pathogenic —
RS1064796242 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1064796245 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1064796250 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1064796252 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ITPR1-related syndromic and non-syndromic hereditary ataxias
RS1064796253 PQBP1 Health Risk Pathogenic/Likely pathogenic —
RS1064796254 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1064796255 CHD7 Health Risk Likely pathogenic —
RS1064796256 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS1064796259 PTCH1 Health Risk Pathogenic —
RS1064796263 SCN8A Health Risk Likely pathogenic —
RS1064796266 FGFR3 Health Risk Likely pathogenic —
RS1064796268 PKP2 Health Risk Likely pathogenic —
RS1064796270 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS1064796271 CALM3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome 1
RS1064796274 FLG Health Risk Pathogenic —
RS1064796275 KMT2D Health Risk Pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS1064796278 GLI3 Health Risk Likely pathogenic —
RS1064796279 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1064796287 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, PKHD1-related disorder
RS1064796288 NFIX Health Risk Pathogenic —
RS1064796289 KANSL1 Health Risk Pathogenic —
RS1064796290 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1064796294 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1064796297 FLNA Health Risk Conflicting classifications of pathogenicity Thoracic aortic aneurysm or dissection, Thoracic aortic aneurysm or dissection
RS1064796300 KMT2D Health Risk Pathogenic —
RS1064796301 SHROOM4 Health Risk Conflicting classifications of pathogenicity —
RS1064796303 PHEX Health Risk Pathogenic —
RS1064796306 MED23 Health Risk Pathogenic —
RS1064796308 ZBTB20 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1064796311 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1064796314 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1064796315 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1064796316 DYRK1A Health Risk Pathogenic —
RS1064796323 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS1064796324 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, IKZF1-related disorder
RS1064796325 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
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