rs63750971

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CA)	6	Lynch syndrome, pathogenic mutation
(AC;AC)	0	common in clinvar
(CA;CA)	0	common in clinvar
(I;I)	0

Make rs63750971(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37050536

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750971
dbSNP (classic)	rs63750971
ClinGen	rs63750971
ebi	rs63750971
HLI	rs63750971
Exac	rs63750971
Gnomad	rs63750971
Varsome	rs63750971
LitVar	rs63750971
Map	rs63750971
PheGenI	rs63750971
Biobank	rs63750971
1000 genomes	rs63750971
hgdp	rs63750971
ensembl	rs63750971
geneview	rs63750971
scholar	rs63750971
google	rs63750971
pharmgkb	rs63750971
gwascentral	rs63750971
openSNP	rs63750971
23andMe	rs63750971
SNPshot	rs63750971
SNPdbe	rs63750971
MSV3d	rs63750971
GWAS Ctlg	rs63750971

Max Magnitude

6

aka c.2152_2153delCA and also c.1858_1859dupCA; both are considered pathogenic in ClinVar for Lynch syndrome

ClinVar
Risk	rs63750971(-;-)
Alt	rs63750971(-;-)
Reference	Rs63750971(AC;AC)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37092027_37092028delCA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075558.2,