rs121434629

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	6	Lynch syndrome
(C;T)	6	Lynch syndrome
(G;G)	0	common in clinvar
(G;T)	6	Lynch syndrome, pathogenic mutation

Make rs121434629(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

6005918

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs121434629
dbSNP (classic)	rs121434629
ClinGen	rs121434629
ebi	rs121434629
HLI	rs121434629
Exac	rs121434629
Gnomad	rs121434629
Varsome	rs121434629
LitVar	rs121434629
Map	rs121434629
PheGenI	rs121434629
Biobank	rs121434629
1000 genomes	rs121434629
hgdp	rs121434629
ensembl	rs121434629
geneview	rs121434629
scholar	rs121434629
google	rs121434629
pharmgkb	rs121434629
gwascentral	rs121434629
openSNP	rs121434629
23andMe	rs121434629
SNPshot	rs121434629
SNPdbe	rs121434629
MSV3d	rs121434629
GWAS Ctlg	rs121434629

Max Magnitude

6

OMIM	600259
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121434629(A;A) rs121434629(T;T)
Alt	rs121434629(A;A) rs121434629(T;T)
Reference	Rs121434629(G;G)
Significance	Other
Disease	Turcot syndrome Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PMS2
CLNDBN	Turcot syndrome Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.6045549C>A; NC_000007.13:g.6045549C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009826.7, RCV000056324.5, RCV000076807.6, RCV000115657.7, RCV000200994.3, RCV000076806.2,