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rs121912467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912467(C;T)
Make rs121912467(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75752221
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912467
ebirs121912467
HLIrs121912467
Exacrs121912467
Varsomers121912467
Maprs121912467
PheGenIrs121912467
hapmaprs121912467
1000 genomesrs121912467
hgdprs121912467
ensemblrs121912467
gopubmedrs121912467
geneviewrs121912467
scholarrs121912467
googlers121912467
pharmgkbrs121912467
gwascentralrs121912467
openSNPrs121912467
23andMers121912467
23andMe allrs121912467
SNP Nexus

SNPshotrs121912467
SNPdbers121912467
MSV3drs121912467
GWAS Ctlgrs121912467
Max Magnitude0
OMIM147557
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912467(T;T)
Alt rs121912467(T;T)
Reference rs121912467(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa with pyloric atresia
Variation info
Gene ITGB4
CLNDBN Epidermolysis bullosa with pyloric atresia
Reversed 0
HGVS NC_000017.10:g.73748302C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015863.25,