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rs121912463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912463(C;C)
Make rs121912463(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75736077
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912463
ebirs121912463
HLIrs121912463
Exacrs121912463
Varsomers121912463
Maprs121912463
PheGenIrs121912463
hapmaprs121912463
1000 genomesrs121912463
hgdprs121912463
ensemblrs121912463
gopubmedrs121912463
geneviewrs121912463
scholarrs121912463
googlers121912463
pharmgkbrs121912463
gwascentralrs121912463
openSNPrs121912463
23andMers121912463
23andMe allrs121912463
SNP Nexus

SNPshotrs121912463
SNPdbers121912463
MSV3drs121912463
GWAS Ctlgrs121912463
Max Magnitude0
OMIM147557
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912463(C;C)
Alt rs121912463(C;C)
Reference rs121912463(T;T)
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.73732158T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015856.26,