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rs121912465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912465(C;C)
Make rs121912465(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75727227
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912465
ebirs121912465
HLIrs121912465
Exacrs121912465
Varsomers121912465
Maprs121912465
PheGenIrs121912465
hapmaprs121912465
1000 genomesrs121912465
hgdprs121912465
ensemblrs121912465
gopubmedrs121912465
geneviewrs121912465
scholarrs121912465
googlers121912465
pharmgkbrs121912465
gwascentralrs121912465
openSNPrs121912465
23andMers121912465
23andMe allrs121912465
SNP Nexus

SNPshotrs121912465
SNPdbers121912465
MSV3drs121912465
GWAS Ctlgrs121912465
Max Magnitude0
OMIM147557
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912465(C;C)
Alt rs121912465(C;C)
Reference rs121912465(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.73723307T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015859.22,