rs121434630

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	6	Lynch syndrome
(T;T)	0	common in clinvar

Make rs121434630(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

6004003

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs121434630
dbSNP (classic)	rs121434630
ClinGen	rs121434630
ebi	rs121434630
HLI	rs121434630
Exac	rs121434630
Gnomad	rs121434630
Varsome	rs121434630
LitVar	rs121434630
Map	rs121434630
PheGenI	rs121434630
Biobank	rs121434630
1000 genomes	rs121434630
hgdp	rs121434630
ensembl	rs121434630
geneview	rs121434630
scholar	rs121434630
google	rs121434630
pharmgkb	rs121434630
gwascentral	rs121434630
openSNP	rs121434630
23andMe	rs121434630
SNPshot	rs121434630
SNPdbe	rs121434630
MSV3d	rs121434630
GWAS Ctlg	rs121434630

Max Magnitude

6

OMIM	600259
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121434630(A;A)
Alt	rs121434630(A;A)
Reference	Rs121434630(T;T)
Significance	Pathogenic
Disease	Turcot syndrome
Variation	info
Gene	PMS2
CLNDBN	Turcot syndrome
Reversed	1
HGVS	NC_000007.13:g.6043634A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009830.4,