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
RS1666039804 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666121550 OTOF Health Risk Pathogenic —
RS1666192928 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1666202984 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1666206875 DYNC2LI1 Health Risk Likely pathogenic —
RS1666207064 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1666230230 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1666247177 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666264316 LAMB3 Health Risk Pathogenic —
RS1666268592 LAMB3 Health Risk Pathogenic —
RS1666291169 LAMB3 Health Risk Pathogenic —
RS1666295144 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Thymoma
RS1666303205 IFT172 Health Risk Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 20
RS1666304645 LAMB3 Health Risk Likely pathogenic —
RS1666320034 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1666321359 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1666408900 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666418404 LAMB3 Health Risk Pathogenic —
RS1666422338 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666431089 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1666432128 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666434871 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1666482613 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666505168 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666507638 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666514563 LAMB3 Health Risk Likely pathogenic —
RS1666522276 CFH Health Risk Likely pathogenic —
RS1666542456 LAMB3 Health Risk Pathogenic —
RS1666602075 SIX3 Health Risk Likely pathogenic —
RS1666605262 SIX3 Health Risk Likely pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS1666607402 LAMB3 Health Risk Pathogenic —
RS1666615300 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666616178 LAMB3 Health Risk Pathogenic —
RS1666645866 LAMB3 Health Risk Likely pathogenic —
RS1666646272 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666692498 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Marshall syndrome
RS1666728055 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1666730460 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1666730991 MSH2 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
RS1666731161 LAMB3 Health Risk Pathogenic —
RS1666731883 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666733944 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1666736220 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666753666 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa
RS1666790331 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1666819553 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666821581 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS1666824711 LAMB3 Health Risk Pathogenic —
RS1666824858 LAMB3 Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS1666836481 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1666894595 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1666897900 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1666899452 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1666901220 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1666904987 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome
RS1666905944 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1666906992 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1666944608 LAMB3 Health Risk Pathogenic —
RS1667056053 PPP1CB Health Risk Conflicting classifications of pathogenicity —
RS1667056923 CHD5 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Intellectual disability
RS1667063572 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1667066366 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1667073440 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667075835 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667076297 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667076589 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667077650 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1667078647 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667109933 OTOF Health Risk Likely pathogenic —
RS1667142761 MUC1 Health Risk Pathogenic Tubulointerstitial kidney disease, autosomal dominant
RS1667161380 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1667163007 HEATR5B Health Risk Likely pathogenic HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS1667208458 COL11A1 Health Risk Likely pathogenic Fibrochondrogenesis 1, Marshall syndrome
RS1667224478 HEATR5B Health Risk Likely pathogenic HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS1667229261 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1667236103 MSH2 Health Risk Pathogenic —
RS1667236175 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1667240403 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1667243318 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1667245819 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667245915 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667248887 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1667251882 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667252115 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1667260204 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1667260968 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1667264651 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis
RS1667266283 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1667269806 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1667270187 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1667302018 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1667303361 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1667303602 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667305232 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1667306622 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1667309466 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1667311758 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1667312762 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1667313093 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1667314337 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
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