rs63751466

Orientation

minus

Stabilized

minus

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

Make rs63751466(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5977629

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs63751466
dbSNP (classic)	rs63751466
ClinGen	rs63751466
ebi	rs63751466
HLI	rs63751466
Exac	rs63751466
Gnomad	rs63751466
Varsome	rs63751466
LitVar	rs63751466
Map	rs63751466
PheGenI	rs63751466
Biobank	rs63751466
1000 genomes	rs63751466
hgdp	rs63751466
ensembl	rs63751466
geneview	rs63751466
scholar	rs63751466
google	rs63751466
pharmgkb	rs63751466
gwascentral	rs63751466
openSNP	rs63751466
23andMe	rs63751466
SNPshot	rs63751466
SNPdbe	rs63751466
MSV3d	rs63751466
GWAS Ctlg	rs63751466

Max Magnitude

6

OMIM	600259
Desc
Variant	0004
Related	also

ClinVar
Risk	rs63751466(A;A) rs63751466(T;T)
Alt	rs63751466(A;A) rs63751466(T;T)
Reference	Rs63751466(C;C)
Significance	Pathogenic
Disease	Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 not provided
Variation	info
Gene	PMS2
CLNDBN	Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 not provided
Reversed	1
HGVS	NC_000007.13:g.6017260G>A; NC_000007.13:g.6017260G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009818.2, RCV000076858.2, RCV000129304.2, RCV000409056.1, RCV000413126.1, RCV000223473.1,