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rs121912464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912464(A;A)
Make rs121912464(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75755785
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912464
ebirs121912464
HLIrs121912464
Exacrs121912464
Varsomers121912464
Maprs121912464
PheGenIrs121912464
hapmaprs121912464
1000 genomesrs121912464
hgdprs121912464
ensemblrs121912464
gopubmedrs121912464
geneviewrs121912464
scholarrs121912464
googlers121912464
pharmgkbrs121912464
gwascentralrs121912464
openSNPrs121912464
23andMers121912464
23andMe allrs121912464
SNP Nexus

SNPshotrs121912464
SNPdbers121912464
MSV3drs121912464
GWAS Ctlgrs121912464
Max Magnitude0
OMIM147557
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912464(A;A)
Alt rs121912464(A;A)
Reference rs121912464(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.73751866G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015858.26,