rs879255260

Orientation

minus

Stabilized

minus

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

Make rs879255260(C;T)

Make rs879255260(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

8

Position

143933210

Gene

PLEC

is a	snp
is	mentioned by
dbSNP	rs879255260
dbSNP (classic)	rs879255260
ClinGen	rs879255260
ebi	rs879255260
HLI	rs879255260
Exac	rs879255260
Gnomad	rs879255260
Varsome	rs879255260
LitVar	rs879255260
Map	rs879255260
PheGenI	rs879255260
Biobank	rs879255260
1000 genomes	rs879255260
hgdp	rs879255260
ensembl	rs879255260
geneview	rs879255260
scholar	rs879255260
google	rs879255260
pharmgkb	rs879255260
gwascentral	rs879255260
openSNP	rs879255260
23andMe	rs879255260
SNPshot	rs879255260
SNPdbe	rs879255260
MSV3d	rs879255260
GWAS Ctlg	rs879255260

Max Magnitude

0

ClinVar
Risk	rs879255260(T;T)
Alt	rs879255260(T;T)
Reference	Rs879255260(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa junctionalis with pyloric atresia
Variation	info
Gene	PLEC
CLNDBN	Epidermolysis bullosa junctionalis with pyloric atresia
Reversed	1
HGVS	NC_000008.10:g.145007378G>A
CLNSRC
CLNACC	RCV000239385.1,