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rs121912468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912468(A;A)
Make rs121912468(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75750992
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912468
ebirs121912468
HLIrs121912468
Exacrs121912468
Varsomers121912468
Maprs121912468
PheGenIrs121912468
hapmaprs121912468
1000 genomesrs121912468
hgdprs121912468
ensemblrs121912468
gopubmedrs121912468
geneviewrs121912468
scholarrs121912468
googlers121912468
pharmgkbrs121912468
gwascentralrs121912468
openSNPrs121912468
23andMers121912468
23andMe allrs121912468
SNP Nexus

SNPshotrs121912468
SNPdbers121912468
MSV3drs121912468
GWAS Ctlgrs121912468
Max Magnitude0
OMIM147557
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912468(A;A)
Alt rs121912468(A;A)
Reference rs121912468(G;G)
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.73747073G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015864.25,