rs758551913

Orientation

plus

Stabilized

plus

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

Make rs758551913(A;G)

Make rs758551913(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75742580

Gene

ITGB4

is a	snp
is	mentioned by
dbSNP	rs758551913
dbSNP (classic)	rs758551913
ClinGen	rs758551913
ebi	rs758551913
HLI	rs758551913
Exac	rs758551913
Gnomad	rs758551913
Varsome	rs758551913
LitVar	rs758551913
Map	rs758551913
PheGenI	rs758551913
Biobank	rs758551913
1000 genomes	rs758551913
hgdp	rs758551913
ensembl	rs758551913
geneview	rs758551913
scholar	rs758551913
google	rs758551913
pharmgkb	rs758551913
gwascentral	rs758551913
openSNP	rs758551913
23andMe	rs758551913
SNPshot	rs758551913
SNPdbe	rs758551913
MSV3d	rs758551913
GWAS Ctlg	rs758551913

Max Magnitude

0

ClinVar
Risk	rs758551913(G;G)
Alt	rs758551913(G;G)
Reference	Rs758551913(A;A)
Significance	Probable-Pathogenic
Disease	Epidermolysis bullosa junctionalis with pyloric atresia
Variation	info
Gene	ITGB4
CLNDBN	Epidermolysis bullosa junctionalis with pyloric atresia
Reversed	0
HGVS	NC_000017.10:g.73738661A>G
CLNSRC
CLNACC	RCV000190599.1,