rs63750375

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CA)	6	Lynch syndrome, pathogenic mutation
(CA;CA)	0	common in clinvar
(D;D)	0	common/normal (actually, a common error normally made by 23andMe; see explanation)

Make rs63750375(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37047565

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750375
dbSNP (classic)	rs63750375
ClinGen	rs63750375
ebi	rs63750375
HLI	rs63750375
Exac	rs63750375
Gnomad	rs63750375
Varsome	rs63750375
LitVar	rs63750375
Map	rs63750375
PheGenI	rs63750375
Biobank	rs63750375
1000 genomes	rs63750375
hgdp	rs63750375
ensembl	rs63750375
geneview	rs63750375
scholar	rs63750375
google	rs63750375
pharmgkb	rs63750375
gwascentral	rs63750375
openSNP	rs63750375
23andMe	rs63750375
SNPshot	rs63750375
SNPdbe	rs63750375
MSV3d	rs63750375
GWAS Ctlg	rs63750375

Max Magnitude

6

aka c.1778_1779delCA (p.Pro593Argfs)

ClinVar
Risk	rs63750375(-;-)
Alt	rs63750375(-;-)
Reference	Rs63750375(CA;CA)
Significance	Pathogenic
Disease	Lynch syndrome not provided
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.37089056_37089057delCA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075363.2, RCV000202156.1,