rs1805323

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1805323(A;A)

Make rs1805323(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

5987311

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs1805323
dbSNP (classic)	rs1805323
ClinGen	rs1805323
ebi	rs1805323
HLI	rs1805323
Exac	rs1805323
Gnomad	rs1805323
Varsome	rs1805323
LitVar	rs1805323
Map	rs1805323
PheGenI	rs1805323
Biobank	rs1805323
1000 genomes	rs1805323
hgdp	rs1805323
ensembl	rs1805323
geneview	rs1805323
scholar	rs1805323
google	rs1805323
pharmgkb	rs1805323
gwascentral	rs1805323
openSNP	rs1805323
23andMe	rs1805323
SNPshot	rs1805323
SNPdbe	rs1805323
MSV3d	rs1805323
GWAS Ctlg	rs1805323

Max Magnitude

0

modifies the age of onset of poly-glutamine (aka Poly-Q) diseases, such as Huntington disease and multiple spinocerebellar ataxia, according to 10.1002/ana.24656

ClinVar
Risk	rs1805323(A;A) rs1805323(T;T)
Alt	rs1805323(A;A) rs1805323(T;T)
Reference	Rs1805323(C;C)
Significance	Non-pathogenic
Disease	Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000007.13:g.6026942G>A; NC_000007.13:g.6026942G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000227437.2, RCV000479471.1, RCV000034616.1, RCV000076810.3, RCV000079104.7, RCV000130906.2,