rs1057517176

Orientation

plus

Stabilized

plus

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

Make rs1057517176(-;-)

Make rs1057517176(-;TTTCAGA)

Make rs1057517176(TTTCAGA;TTTCAGA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183232335

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057517176
dbSNP (classic)	rs1057517176
ClinGen	rs1057517176
ebi	rs1057517176
HLI	rs1057517176
Exac	rs1057517176
Gnomad	rs1057517176
Varsome	rs1057517176
LitVar	rs1057517176
Map	rs1057517176
PheGenI	rs1057517176
Biobank	rs1057517176
1000 genomes	rs1057517176
hgdp	rs1057517176
ensembl	rs1057517176
geneview	rs1057517176
scholar	rs1057517176
google	rs1057517176
pharmgkb	rs1057517176
gwascentral	rs1057517176
openSNP	rs1057517176
23andMe	rs1057517176
SNPshot	rs1057517176
SNPdbe	rs1057517176
MSV3d	rs1057517176
GWAS Ctlg	rs1057517176

Max Magnitude

0

ClinVar
Risk	rs1057517176(-;-)
Alt	rs1057517176(-;-)
Reference	Rs1057517176(CAGATTT;CAGATTT)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMC2
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.183201470_183201476delTTTCAGA
CLNSRC
CLNACC	RCV000410724.1,