rs137853160

Orientation

minus

Stabilized

minus

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

Make rs137853160(C;T)

Make rs137853160(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

143934923

Gene

PLEC

is a	snp
is	mentioned by
dbSNP	rs137853160
dbSNP (classic)	rs137853160
ClinGen	rs137853160
ebi	rs137853160
HLI	rs137853160
Exac	rs137853160
Gnomad	rs137853160
Varsome	rs137853160
LitVar	rs137853160
Map	rs137853160
PheGenI	rs137853160
Biobank	rs137853160
1000 genomes	rs137853160
hgdp	rs137853160
ensembl	rs137853160
geneview	rs137853160
scholar	rs137853160
google	rs137853160
pharmgkb	rs137853160
gwascentral	rs137853160
openSNP	rs137853160
23andMe	rs137853160
SNPshot	rs137853160
SNPdbe	rs137853160
MSV3d	rs137853160
GWAS Ctlg	rs137853160

Max Magnitude

0

OMIM	601282
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137853160(T;T)
Alt	rs137853160(T;T)
Reference	Rs137853160(C;C)
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.145009091G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008753.5,