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
RS121913384 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS121913385 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS121913386 CDKN2A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS121913387 CDKN2A Health Risk Pathogenic Neoplasm, Familial melanoma
RS121913388 CDKN2A Health Risk Pathogenic/Likely pathogenic Melanoma, cutaneous malignant
RS121913389 CDKN2A Health Risk Pathogenic Lip and oral cavity carcinoma, Hereditary cancer-predisposing syndrome
RS121913396 CTNNB1 Health Risk Pathogenic/Likely pathogenic Pilomatrixoma, Sertoli-Leydig cell tumor
RS121913399 CTNNB1 Health Risk Pathogenic Malignant tumor of urinary bladder, Adamantinous craniopharyngioma
RS121913400 CTNNB1 Health Risk Pathogenic; other Carcinoma of colon, Pilomatrixoma
RS121913403 CTNNB1 Health Risk Pathogenic Ovarian neoplasm, Pilomatrixoma
RS121913407 CTNNB1 Health Risk Pathogenic/Likely pathogenic Hepatocellular carcinoma, Neoplasm
RS121913409 CTNNB1 Health Risk Pathogenic; other Hepatocellular carcinoma, Nephroblastoma
RS121913412 CTNNB1 Health Risk Likely pathogenic Desmoid tumor caused by somatic mutation, Hepatoblastoma
RS121913413 CTNNB1 Health Risk Likely pathogenic Pilomatrixoma, Desmoid disease
RS121913421 EGFR Health Risk Conflicting classifications of pathogenicity Tyrosine kinase inhibitor response, EGFR-related lung cancer
RS121913428 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Neoplasm
RS121913449 ABL1 Health Risk Pathogenic Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS121913454 ABL1 Health Risk Pathogenic Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS121913456 ABL1 Health Risk Pathogenic —
RS121913457 ABL1 Health Risk Pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive
RS121913459 ABL1 Health Risk Likely pathogenic; association Leukemia, Philadelphia chromosome-positive
RS121913461 ABL1 Health Risk Pathogenic Leukemia, Philadelphia chromosome-positive
RS121913462 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS121913465 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Neoplasm
RS121913469 ERBB2 Health Risk Pathogenic/Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS121913474 FGFR2 Health Risk Pathogenic/Likely pathogenic Beare-Stevenson cutis gyrata syndrome, Adenoid cystic carcinoma
RS121913477 FGFR2 Health Risk Pathogenic Beare-Stevenson cutis gyrata syndrome, FGFR2-related craniosynostosis
RS121913478 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Endometrial carcinoma
RS121913479 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, Epidermal nevus
RS121913480 FGFR3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS121913482 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, Skeletal dysplasia with acanthosis nigricans
RS121913483 FGFR3 Health Risk Pathogenic Seborrheic keratosis, Thanatophoric dysplasia type 1
RS121913484 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 1
RS121913485 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, See cases
RS121913486 FLT3 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121913487 FLT3 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121913488 FLT3 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121913491 FLT3 Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121913492 GNAQ Health Risk Pathogenic Sturge-Weber syndrome, Abnormal cardiovascular system morphology
RS121913494 GNAS Health Risk Pathogenic Pituitary adenoma 3, multiple types
RS121913495 GNAS Health Risk Pathogenic/Likely pathogenic McCune-Albright syndrome, Sex cord-stromal tumor
RS121913496 HRAS Health Risk Likely pathogenic Noonan syndrome 3, Noonan syndrome 3
RS121913499 IDH1 Health Risk Pathogenic Acute myeloid leukemia, Enchondromatosis
RS121913500 IDH1 Health Risk Pathogenic Glioblastoma multiforme, somatic
RS121913502 IDH2 Health Risk Pathogenic/Likely pathogenic D-2-hydroxyglutaric aciduria 2, Neoplasm
RS121913503 IDH2 Health Risk risk factor Acute myocardial infarction, Acute myocardial infarction
RS121913505 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS121913506 KIT Health Risk Pathogenic Germ cell tumor of testis, Dysgerminoma
RS121913507 KIT Health Risk Conflicting classifications of pathogenicity Dysgerminoma, Gastrointestinal stromal tumor
RS121913509 KIT Health Risk Pathogenic Mastocytosis, Mastocytosis
RS121913512 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, familial
RS121913513 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS121913514 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS121913517 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Germinoma
RS121913521 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS121913527 KRAS Health Risk Pathogenic/Likely pathogenic RASopathy, OCULOECTODERMAL SYNDROME
RS121913528 KRAS Health Risk Pathogenic/Likely pathogenic Bladder cancer, transitional cell
RS121913529 KRAS Health Risk Pathogenic/Likely pathogenic Carcinoma of pancreas, Epidermal nevus
RS121913530 KRAS Health Risk Pathogenic Lung carcinoma, Non-small cell lung carcinoma
RS121913535 KRAS Health Risk Pathogenic/Likely pathogenic Pilocytic astrocytoma, Non-small cell lung carcinoma
RS121913538 KRAS Health Risk Likely pathogenic OCULOECTODERMAL SYNDROME, SOMATIC
RS121913547 LYZ Health Risk Pathogenic Amyloidosis, hereditary systemic 5
RS121913549 LYZ Health Risk Pathogenic Amyloidosis, hereditary systemic 5
RS121913550 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS121913551 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS121913552 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS121913553 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS121913554 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS121913555 LIM2 Health Risk Pathogenic Cataract 19 multiple types, Cataract 19 multiple types
RS121913556 MC3R Health Risk risk factor OBESITY (BMIQ9), SUSCEPTIBILITY TO
RS121913558 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS121913559 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS121913560 MC4R Health Risk Conflicting classifications of pathogenicity BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS121913561 MC4R Health Risk Conflicting classifications of pathogenicity BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity
RS121913562 MC4R Health Risk Pathogenic Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS121913563 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS121913564 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity
RS121913565 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS121913566 MC4R Health Risk Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity due to melanocortin 4 receptor deficiency
RS121913567 MC4R Health Risk Conflicting classifications of pathogenicity BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS121913568 ACAN Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, aggrecan type
RS121913569 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS121913570 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS121913571 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS121913572 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS121913573 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS121913574 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS121913575 LAMA2 Health Risk Pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy
RS121913576 LAMA2 Health Risk Pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy
RS121913577 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS121913578 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Profound intellectual disability
RS121913579 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS121913580 MTR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblG, Neural tube defects
RS121913581 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS121913582 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects
RS121913583 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913584 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913585 MPZ Health Risk Pathogenic/Likely pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS121913586 MPZ Health Risk Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS121913587 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
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