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rs1800937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome, pathogenic mutation
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
(C;T) 0 benign polymorphism
(T;T) 0 benign polymorphism
ReferenceGRCh38 38.1/141
Chromosome2
Position47798625
GeneMSH6
is asnp
is mentioned by
dbSNPrs1800937
dbSNP (classic)rs1800937
ClinGenrs1800937
ebirs1800937
HLIrs1800937
Exacrs1800937
Gnomadrs1800937
Varsomers1800937
LitVarrs1800937
Maprs1800937
PheGenIrs1800937
Biobankrs1800937
1000 genomesrs1800937
hgdprs1800937
ensemblrs1800937
geneviewrs1800937
scholarrs1800937
googlers1800937
pharmgkbrs1800937
gwascentralrs1800937
openSNPrs1800937
23andMers1800937
SNPshotrs1800937
SNPdbers1800937
MSV3drs1800937
GWAS Ctlgrs1800937
GMAF0.04959
Max Magnitude6
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs1800937(A;A) rs1800937(G;G) Rs1800937(T;T)
Alt rs1800937(A;A) rs1800937(G;G) Rs1800937(T;T)
Reference Rs1800937(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48025764C>A; NC_000002.11:g.48025764C>G; NC_000002.11:g.48025764C>T
CLNSRC HGMD
CLNACC RCV000075015.2, RCV000075016.2, RCV000485263.1, RCV000030277.4, RCV000035327.8, RCV000132355.3,