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rs397514684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514684(G;G)
Make rs397514684(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37000965
GeneMLH1
is asnp
is mentioned by
dbSNPrs397514684
ebirs397514684
HLIrs397514684
Exacrs397514684
Varsomers397514684
Maprs397514684
PheGenIrs397514684
hapmaprs397514684
1000 genomesrs397514684
hgdprs397514684
ensemblrs397514684
gopubmedrs397514684
geneviewrs397514684
scholarrs397514684
googlers397514684
pharmgkbrs397514684
gwascentralrs397514684
openSNPrs397514684
23andMers397514684
23andMe allrs397514684
SNP Nexus

SNPshotrs397514684
SNPdbers397514684
MSV3drs397514684
GWAS Ctlgrs397514684
Max Magnitude0
ClinVar
Risk rs397514684(C,G;C,G)
Alt rs397514684(C,G;C,G)
Reference rs397514684(T;T)
Significance Pathogenic
Disease Lynch syndrome Turcot syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MLH1
CLNDBN Lynch syndrome Turcot syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37042456T>C; NC_000003.11:g.37042456T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000075572.2, RCV000035016.25, RCV000213759.1,