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rs758551913

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs758551913(A;G)
Make rs758551913(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75742580
GeneITGB4
is asnp
is mentioned by
dbSNPrs758551913
ebirs758551913
HLIrs758551913
Exacrs758551913
Varsomers758551913
Maprs758551913
PheGenIrs758551913
hapmaprs758551913
1000 genomesrs758551913
hgdprs758551913
ensemblrs758551913
gopubmedrs758551913
geneviewrs758551913
scholarrs758551913
googlers758551913
pharmgkbrs758551913
gwascentralrs758551913
openSNPrs758551913
23andMers758551913
23andMe allrs758551913
SNP Nexus

SNPshotrs758551913
SNPdbers758551913
MSV3drs758551913
GWAS Ctlgrs758551913
Max Magnitude0
ClinVar
Risk rs758551913(G;G)
Alt rs758551913(G;G)
Reference rs758551913(A;A)
Significance Probable-Pathogenic
Disease Epidermolysis bullosa with pyloric atresia
Variation info
Gene ITGB4
CLNDBN Epidermolysis bullosa with pyloric atresia
Reversed 0
HGVS NC_000017.10:g.73738661A>G
CLNSRC
CLNACC RCV000190599.1,