rs587779118

Orientation

plus

Stabilized

plus

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

Make rs587779118(ACTT;ACTT)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

47475235

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs587779118
dbSNP (classic)	rs587779118
ClinGen	rs587779118
ebi	rs587779118
HLI	rs587779118
Exac	rs587779118
Gnomad	rs587779118
Varsome	rs587779118
LitVar	rs587779118
Map	rs587779118
PheGenI	rs587779118
Biobank	rs587779118
1000 genomes	rs587779118
hgdp	rs587779118
ensembl	rs587779118
geneview	rs587779118
scholar	rs587779118
google	rs587779118
pharmgkb	rs587779118
gwascentral	rs587779118
openSNP	rs587779118
23andMe	rs587779118
SNPshot	rs587779118
SNPdbe	rs587779118
MSV3d	rs587779118
GWAS Ctlg	rs587779118

Max Magnitude

6

aka c.1967_1970dupACTT (p.Phe657Leufs)

ClinVar
Risk	rs587779118(TACT;TACT)
Alt	rs587779118(TACT;TACT)
Reference	Rs587779118(-;-)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47702371_47702374dupACTT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076326.2,