rs121912464

Orientation

plus

Stabilized

plus

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

Make rs121912464(A;A)

Make rs121912464(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75755785

Gene

ITGB4

is a	snp
is	mentioned by
dbSNP	rs121912464
dbSNP (classic)	rs121912464
ClinGen	rs121912464
ebi	rs121912464
HLI	rs121912464
Exac	rs121912464
Gnomad	rs121912464
Varsome	rs121912464
LitVar	rs121912464
Map	rs121912464
PheGenI	rs121912464
Biobank	rs121912464
1000 genomes	rs121912464
hgdp	rs121912464
ensembl	rs121912464
geneview	rs121912464
scholar	rs121912464
google	rs121912464
pharmgkb	rs121912464
gwascentral	rs121912464
openSNP	rs121912464
23andMe	rs121912464
SNPshot	rs121912464
SNPdbe	rs121912464
MSV3d	rs121912464
GWAS Ctlg	rs121912464

Max Magnitude

0

OMIM	147557
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912464(A;A)
Alt	rs121912464(A;A)
Reference	Rs121912464(G;G)
Significance	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.73751866G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015858.26,