rs121912465

Orientation

plus

Stabilized

plus

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

Make rs121912465(C;C)

Make rs121912465(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75727227

Gene

ITGB4

is a	snp
is	mentioned by
dbSNP	rs121912465
dbSNP (classic)	rs121912465
ClinGen	rs121912465
ebi	rs121912465
HLI	rs121912465
Exac	rs121912465
Gnomad	rs121912465
Varsome	rs121912465
LitVar	rs121912465
Map	rs121912465
PheGenI	rs121912465
Biobank	rs121912465
1000 genomes	rs121912465
hgdp	rs121912465
ensembl	rs121912465
geneview	rs121912465
scholar	rs121912465
google	rs121912465
pharmgkb	rs121912465
gwascentral	rs121912465
openSNP	rs121912465
23andMe	rs121912465
SNPshot	rs121912465
SNPdbe	rs121912465
MSV3d	rs121912465
GWAS Ctlg	rs121912465

Max Magnitude

0

OMIM	147557
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912465(C;C)
Alt	rs121912465(C;C)
Reference	Rs121912465(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.73723307T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015859.22,