rs63751247

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AAG)	6	Lynch syndrome, pathogenic mutation
(AAG;AAG)	0	common in clinvar
(GAA;GAA)	0	common in clinvar

Make rs63751247(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37047639

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63751247
dbSNP (classic)	rs63751247
ClinGen	rs63751247
ebi	rs63751247
HLI	rs63751247
Exac	rs63751247
Gnomad	rs63751247
Varsome	rs63751247
LitVar	rs63751247
Map	rs63751247
PheGenI	rs63751247
Biobank	rs63751247
1000 genomes	rs63751247
hgdp	rs63751247
ensembl	rs63751247
geneview	rs63751247
scholar	rs63751247
google	rs63751247
pharmgkb	rs63751247
gwascentral	rs63751247
openSNP	rs63751247
23andMe	rs63751247
SNPshot	rs63751247
SNPdbe	rs63751247
MSV3d	rs63751247
GWAS Ctlg	rs63751247

Merged from

Rs121912962, Rs587782285

Max Magnitude

6

aka c.1852_1854delAAG

ClinVar
Risk	rs63751247(-;-) Rs63751247(GAA;GAA)
Alt	rs63751247(-;-) Rs63751247(GAA;GAA)
Reference	Rs63751247(AAG;AAG)
Significance	Pathogenic
Disease	Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Variation	info
Gene	MLH1
CLNDBN	Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Reversed	0
HGVS	NC_000003.11:g.37089130_37089132delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018609.27, RCV000075383.4, RCV000129328.4, RCV000192399.2, RCV000202279.2,