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
RS121913147 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
RS121913148 INSR Health Risk Likely pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Hyperinsulinism due to INSR deficiency
RS121913150 INSR Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS121913151 INSR Health Risk Likely pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913152 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913153 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913154 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913155 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913156 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Hyperinsulinism due to INSR deficiency
RS121913158 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913159 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913160 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913161 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS121913162 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS121913209 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Immunodeficiency 28
RS121913212 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, IFNGR2-related disorder
RS121913217 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Immunodeficiency 28
RS121913223 DHFR Health Risk Pathogenic Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease
RS121913224 APC Health Risk Pathogenic Familial adenomatous polyposis 1, ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
RS121913233 HRAS Health Risk Likely pathogenic Linear nevus sebaceous syndrome, Vascular Tumors Including Pyogenic Granuloma
RS121913234 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS121913235 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS121913236 KRAS Health Risk Pathogenic/Likely pathogenic RASopathy, Linear nevus sebaceous syndrome
RS121913237 NRAS Health Risk Pathogenic/Likely pathogenic Epidermal nevus, Juvenile myelomonocytic leukemia
RS121913238 KRAS Health Risk Pathogenic Non-small cell lung carcinoma, Colon adenocarcinoma
RS121913240 KRAS Health Risk Pathogenic Noonan syndrome, RASopathy
RS121913243 MET Health Risk Pathogenic/Likely pathogenic Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS121913245 MET Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Embryonal rhabdomyosarcoma
RS121913246 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS121913250 NRAS Health Risk Pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive
RS121913254 NRAS Health Risk Conflicting classifications of pathogenicity Large congenital melanocytic nevus, Neurocutaneous melanocytosis
RS121913255 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Neoplasm
RS121913272 PIK3CA Health Risk Pathogenic CLOVES syndrome, Ovarian neoplasm
RS121913273 PIK3CA Health Risk Pathogenic CLOVES syndrome, Ovarian neoplasm
RS121913274 PIK3CA Health Risk Pathogenic Epidermal nevus, Carcinoma of colon
RS121913275 PIK3CA Health Risk Pathogenic PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome
RS121913277 PIK3CA Health Risk Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome
RS121913279 PIK3CA Health Risk Pathogenic Carcinoma of colon, Hepatocellular carcinoma
RS121913281 PIK3CA Health Risk Pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Non-small cell lung carcinoma
RS121913283 PIK3CA Health Risk Pathogenic Non-small cell lung carcinoma, PIK3CA related overgrowth syndrome
RS121913284 PIK3CA Health Risk Pathogenic Abnormal cardiovascular system morphology, 13 conditions
RS121913285 PIK3CA Health Risk Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Neoplasm
RS121913286 PIK3CA Health Risk Pathogenic Breast adenocarcinoma, PIK3CA related overgrowth syndrome
RS121913287 PIK3CA Health Risk Pathogenic Ovarian neoplasm, Cowden syndrome
RS121913288 PIK3CA Health Risk Pathogenic Abnormal cardiovascular system morphology, Cowden syndrome
RS121913289 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS121913290 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS121913291 PTEN Health Risk Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121913292 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS121913293 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS121913294 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS121913295 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS121913296 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS121913297 RB1 Health Risk Pathogenic Small cell lung carcinoma, Retinoblastoma
RS121913298 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS121913300 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS121913301 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS121913302 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1219133025 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
RS121913303 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS121913304 RB1 Health Risk Pathogenic Trilateral retinoblastoma, Retinoblastoma
RS121913305 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS121913307 RET Health Risk Likely pathogenic Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2B
RS121913314 SRC Health Risk Pathogenic Colon cancer, advanced
RS121913315 STK11 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS121913317 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS121913319 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS121913320 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS121913321 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS121913322 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS121913323 STK11 Health Risk Pathogenic Melanoma, cutaneous malignant
RS121913324 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS121913326 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS121913327 APC Health Risk Pathogenic Carcinoma of colon, Familial adenomatous polyposis 1
RS121913328 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Colorectal cancer
RS121913329 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS121913331 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS121913332 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS121913333 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS121913337 BRAF Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS121913338 BRAF Health Risk Pathogenic Non-Hodgkin lymphoma, Non-small cell lung carcinoma
RS121913341 BRAF Health Risk Pathogenic Cardio-facio-cutaneous syndrome, RASopathy
RS121913343 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1, Prostate cancer
RS121913344 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS121913346 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS121913348 BRAF Health Risk Likely pathogenic Carcinoma of colon, RASopathy
RS121913349 BRAF Health Risk Pathogenic RASopathy, Cardio-facio-cutaneous syndrome
RS121913351 BRAF Health Risk Conflicting classifications of pathogenicity Lung adenocarcinoma, Non-small cell lung carcinoma
RS121913353 BRAF Health Risk Pathogenic Non-small cell lung carcinoma, Vascular malformation
RS121913355 BRAF Health Risk Pathogenic Non-Hodgkin lymphoma, Non-small cell lung carcinoma
RS121913357 BRAF Health Risk Pathogenic/Likely pathogenic Non-Hodgkin lymphoma, Cardio-facio-cutaneous syndrome
RS121913361 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS121913364 BRAF Health Risk Pathogenic Thyroid cancer, nonmedullary
RS121913366 BRAF Health Risk Pathogenic Lung adenocarcinoma, Neuroblastoma
RS121913369 BRAF Health Risk Conflicting classifications of pathogenicity Non-small cell lung carcinoma, Noonan syndrome 7
RS121913370 BRAF Health Risk Likely pathogenic Non-small cell lung carcinoma, Lung adenocarcinoma
RS121913375 BRAF Health Risk Pathogenic Noonan syndrome, RASopathy
RS121913376 BRAF Health Risk Likely pathogenic RASopathy, Ataxia-telangiectasia syndrome
RS121913378 BRAF Health Risk Pathogenic/Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS121913381 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
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