rs587779243

plus

Geno	Mag	Summary
(-;GATT)	6	Lynch syndrome, pathogenic mutation
(ATTG;ATTG)	0	common in clinvar
(GATT;GATT)	0	common/normal

Make rs587779243(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

47800552

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs587779243
dbSNP (classic)	rs587779243
ClinGen	rs587779243
ebi	rs587779243
HLI	rs587779243
Exac	rs587779243
Gnomad	rs587779243
Varsome	rs587779243
LitVar	rs587779243
Map	rs587779243
PheGenI	rs587779243
Biobank	rs587779243
1000 genomes	rs587779243
hgdp	rs587779243
ensembl	rs587779243
geneview	rs587779243
scholar	rs587779243
google	rs587779243
pharmgkb	rs587779243
gwascentral	rs587779243
openSNP	rs587779243
23andMe	rs587779243
SNPshot	rs587779243
SNPdbe	rs587779243
MSV3d	rs587779243
GWAS Ctlg	rs587779243

Max Magnitude

6

rs587779243, also known as c.2569_2572delGATT or p.Asp857Phefs, represents a pathogenic mutation for Lynch syndrome according to multiple ClinVar submitters.

ClinVar
Risk	rs587779243(-;-)
Alt	rs587779243(-;-)
Reference	Rs587779243(ATTG;ATTG)
Significance	Pathogenic
Disease	Lynch syndrome
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.48027691_48027694delGATT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000074755.2,