rs121912463

Orientation

plus

Stabilized

plus

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

Make rs121912463(C;C)

Make rs121912463(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75736077

Gene

ITGB4

is a	snp
is	mentioned by
dbSNP	rs121912463
dbSNP (classic)	rs121912463
ClinGen	rs121912463
ebi	rs121912463
HLI	rs121912463
Exac	rs121912463
Gnomad	rs121912463
Varsome	rs121912463
LitVar	rs121912463
Map	rs121912463
PheGenI	rs121912463
Biobank	rs121912463
1000 genomes	rs121912463
hgdp	rs121912463
ensembl	rs121912463
geneview	rs121912463
scholar	rs121912463
google	rs121912463
pharmgkb	rs121912463
gwascentral	rs121912463
openSNP	rs121912463
23andMe	rs121912463
SNPshot	rs121912463
SNPdbe	rs121912463
MSV3d	rs121912463
GWAS Ctlg	rs121912463

Max Magnitude

0

OMIM	147557
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912463(C;C)
Alt	rs121912463(C;C)
Reference	Rs121912463(T;T)
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.73732158T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015856.26,