rs63750057

Orientation

plus

Stabilized

plus

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

Make rs63750057(CCCA;CCCA)

Reference

GRCh38 38.1/141

Chromosome

3

Position

36993585

Gene	EPM2AIP1, MLH1

is a	snp
is	mentioned by
dbSNP	rs63750057
dbSNP (classic)	rs63750057
ClinGen	rs63750057
ebi	rs63750057
HLI	rs63750057
Exac	rs63750057
Gnomad	rs63750057
Varsome	rs63750057
LitVar	rs63750057
Map	rs63750057
PheGenI	rs63750057
Biobank	rs63750057
1000 genomes	rs63750057
hgdp	rs63750057
ensembl	rs63750057
geneview	rs63750057
scholar	rs63750057
google	rs63750057
pharmgkb	rs63750057
gwascentral	rs63750057
openSNP	rs63750057
23andMe	rs63750057
SNPshot	rs63750057
SNPdbe	rs63750057
MSV3d	rs63750057
GWAS Ctlg	rs63750057

Max Magnitude

6

ClinVar
Risk	Rs63750057(A;A) rs63750057(CCCA;CCCA)
Alt	Rs63750057(A;A) rs63750057(CCCA;CCCA)
Reference	Rs63750057(-;-)
Significance	Pathogenic
Disease	Lynch syndrome not provided
Variation	info
Gene	EPM2AIP1 MLH1
CLNDBN	Lynch syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.37035076_37035077insCCCA; NC_000003.11:g.37035076dupA
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000075695.2, RCV000479728.1, RCV000234014.1,