rs864309672

Orientation

minus

Stabilized

minus

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

Make rs864309672(A;A)

Make rs864309672(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

143933998

Gene

PLEC

is a	snp
is	mentioned by
dbSNP	rs864309672
dbSNP (classic)	rs864309672
ClinGen	rs864309672
ebi	rs864309672
HLI	rs864309672
Exac	rs864309672
Gnomad	rs864309672
Varsome	rs864309672
LitVar	rs864309672
Map	rs864309672
PheGenI	rs864309672
Biobank	rs864309672
1000 genomes	rs864309672
hgdp	rs864309672
ensembl	rs864309672
geneview	rs864309672
scholar	rs864309672
google	rs864309672
pharmgkb	rs864309672
gwascentral	rs864309672
openSNP	rs864309672
23andMe	rs864309672
SNPshot	rs864309672
SNPdbe	rs864309672
MSV3d	rs864309672
GWAS Ctlg	rs864309672

Max Magnitude

0

ClinVar
Risk	rs864309672(A;A)
Alt	rs864309672(A;A)
Reference	Rs864309672(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex with pyloric atresia
Variation	info
Gene	PLEC
CLNDBN	Epidermolysis bullosa simplex with pyloric atresia
Reversed	1
HGVS	NC_000008.10:g.145008166C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008754.5,