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rs63749848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs63749848(-;-)
Make rs63749848(-;AG)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408418
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749848
ebirs63749848
HLIrs63749848
Exacrs63749848
Varsomers63749848
Maprs63749848
PheGenIrs63749848
hapmaprs63749848
1000 genomesrs63749848
hgdprs63749848
ensemblrs63749848
gopubmedrs63749848
geneviewrs63749848
scholarrs63749848
googlers63749848
pharmgkbrs63749848
gwascentralrs63749848
openSNPrs63749848
23andMers63749848
23andMe allrs63749848
SNP Nexus

SNPshotrs63749848
SNPdbers63749848
MSV3drs63749848
GWAS Ctlgrs63749848
Max Magnitude0
ClinVar
Risk rs63749848(;)
Alt rs63749848(;)
Reference rs63749848(AG;AG)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47635557_47635558delAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076455.2, RCV000220900.1,