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rs121912462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912462(C;T)
Make rs121912462(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75736053
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912462
ebirs121912462
HLIrs121912462
Exacrs121912462
Varsomers121912462
Maprs121912462
PheGenIrs121912462
hapmaprs121912462
1000 genomesrs121912462
hgdprs121912462
ensemblrs121912462
gopubmedrs121912462
geneviewrs121912462
scholarrs121912462
googlers121912462
pharmgkbrs121912462
gwascentralrs121912462
openSNPrs121912462
23andMers121912462
23andMe allrs121912462
SNP Nexus

SNPshotrs121912462
SNPdbers121912462
MSV3drs121912462
GWAS Ctlgrs121912462
Max Magnitude0
OMIM147557
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912462(T;T)
Alt rs121912462(T;T)
Reference rs121912462(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.73732134C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015854.26,