rs757617349

Orientation

plus

Stabilized

plus

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

Make rs757617349(C;T)

Make rs757617349(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183222157

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs757617349
dbSNP (classic)	rs757617349
ClinGen	rs757617349
ebi	rs757617349
HLI	rs757617349
Exac	rs757617349
Gnomad	rs757617349
Varsome	rs757617349
LitVar	rs757617349
Map	rs757617349
PheGenI	rs757617349
Biobank	rs757617349
1000 genomes	rs757617349
hgdp	rs757617349
ensembl	rs757617349
geneview	rs757617349
scholar	rs757617349
google	rs757617349
pharmgkb	rs757617349
gwascentral	rs757617349
openSNP	rs757617349
23andMe	rs757617349
SNPshot	rs757617349
SNPdbe	rs757617349
MSV3d	rs757617349
GWAS Ctlg	rs757617349

Max Magnitude

0

ClinVar
Risk	rs757617349(A;A) rs757617349(T;T)
Alt	rs757617349(A;A) rs757617349(T;T)
Reference	Rs757617349(C;C)
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.183191292C>T
CLNSRC
CLNACC	RCV000412046.1,