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rs121912461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912461(C;C)
Make rs121912461(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75727853
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912461
ebirs121912461
HLIrs121912461
Exacrs121912461
Varsomers121912461
Maprs121912461
PheGenIrs121912461
hapmaprs121912461
1000 genomesrs121912461
hgdprs121912461
ensemblrs121912461
gopubmedrs121912461
geneviewrs121912461
scholarrs121912461
googlers121912461
pharmgkbrs121912461
gwascentralrs121912461
openSNPrs121912461
23andMers121912461
23andMe allrs121912461
SNP Nexus

SNPshotrs121912461
SNPdbers121912461
MSV3drs121912461
GWAS Ctlgrs121912461
Max Magnitude0
OMIM147557
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912461(C;C)
Alt rs121912461(C;C)
Reference rs121912461(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.73723934T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015853.22,