rs1060499581

Orientation

minus

Stabilized

minus

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

Make rs1060499581(C;T)

Make rs1060499581(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

143934427

Gene

PLEC

is a	snp
is	mentioned by
dbSNP	rs1060499581
dbSNP (classic)	rs1060499581
ClinGen	rs1060499581
ebi	rs1060499581
HLI	rs1060499581
Exac	rs1060499581
Gnomad	rs1060499581
Varsome	rs1060499581
LitVar	rs1060499581
Map	rs1060499581
PheGenI	rs1060499581
Biobank	rs1060499581
1000 genomes	rs1060499581
hgdp	rs1060499581
ensembl	rs1060499581
geneview	rs1060499581
scholar	rs1060499581
google	rs1060499581
pharmgkb	rs1060499581
gwascentral	rs1060499581
openSNP	rs1060499581
23andMe	rs1060499581
SNPshot	rs1060499581
SNPdbe	rs1060499581
MSV3d	rs1060499581
GWAS Ctlg	rs1060499581

Max Magnitude

0

ClinVar
Risk	rs1060499581(T;T)
Alt	rs1060499581(T;T)
Reference	Rs1060499581(C;C)
Significance	Probable-Pathogenic
Disease	Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex Limb-girdle muscular dystrophy
Variation	info
Gene	PLEC
CLNDBN	Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Ogna type Limb-girdle muscular dystrophy, type 2Q
Reversed	1
HGVS	NC_000008.10:g.145008595G>A
CLNSRC
CLNACC	RCV000477758.1,