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rs748452299

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs748452299(-;-)
Make rs748452299(-;C)
Make rs748452299(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47803500
GeneMSH6
is asnp
is mentioned by
dbSNPrs748452299
ebirs748452299
HLIrs748452299
Exacrs748452299
Varsomers748452299
Maprs748452299
PheGenIrs748452299
hapmaprs748452299
1000 genomesrs748452299
hgdprs748452299
ensemblrs748452299
gopubmedrs748452299
geneviewrs748452299
scholarrs748452299
googlers748452299
pharmgkbrs748452299
gwascentralrs748452299
openSNPrs748452299
23andMers748452299
23andMe allrs748452299
SNP Nexus

SNPshotrs748452299
SNPdbers748452299
MSV3drs748452299
GWAS Ctlgrs748452299
Max Magnitude0
ClinVar
Risk rs748452299(AC,ACC;AC,ACC)
Alt rs748452299(AC,ACC;AC,ACC)
Reference rs748452299(A;A)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48030647dupC
CLNSRC HGMD International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074831.3, RCV000078312.5, RCV000115412.5,