rs786205252

Orientation

minus

Stabilized

minus

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

Make rs786205252(-;-)

Make rs786205252(-;CAGGAGGCC)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

143930152

Gene

PLEC

is a	snp
is	mentioned by
dbSNP	rs786205252
dbSNP (classic)	rs786205252
ClinGen	rs786205252
ebi	rs786205252
HLI	rs786205252
Exac	rs786205252
Gnomad	rs786205252
Varsome	rs786205252
LitVar	rs786205252
Map	rs786205252
PheGenI	rs786205252
Biobank	rs786205252
1000 genomes	rs786205252
hgdp	rs786205252
ensembl	rs786205252
geneview	rs786205252
scholar	rs786205252
google	rs786205252
pharmgkb	rs786205252
gwascentral	rs786205252
openSNP	rs786205252
23andMe	rs786205252
SNPshot	rs786205252
SNPdbe	rs786205252
MSV3d	rs786205252
GWAS Ctlg	rs786205252

Max Magnitude

0

ClinVar
Risk	rs786205252(-;-)
Alt	rs786205252(-;-)
Reference	Rs786205252(CAGGAGGCC;CAGGAGGCC)
Significance	Pathogenic
Disease	Epidermolysa bullosa simplex and limb girdle muscular dystrophy not specified
Variation	info
Gene	PLEC
CLNDBN	Epidermolysa bullosa simplex and limb girdle muscular dystrophy not specified
Reversed	1
HGVS	NC_000008.10:g.145004320_145004328delGGCCTCCTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008748.5, RCV000274705.1,