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rs121912466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912466(A;A)
Make rs121912466(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75742591
GeneITGB4
is asnp
is mentioned by
dbSNPrs121912466
ebirs121912466
HLIrs121912466
Exacrs121912466
Varsomers121912466
Maprs121912466
PheGenIrs121912466
hapmaprs121912466
1000 genomesrs121912466
hgdprs121912466
ensemblrs121912466
gopubmedrs121912466
geneviewrs121912466
scholarrs121912466
googlers121912466
pharmgkbrs121912466
gwascentralrs121912466
openSNPrs121912466
23andMers121912466
23andMe allrs121912466
SNP Nexus

SNPshotrs121912466
SNPdbers121912466
MSV3drs121912466
GWAS Ctlgrs121912466
Max Magnitude0
OMIM147557
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912466(A;A)
Alt rs121912466(A;A)
Reference rs121912466(G;G)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene ITGB4
CLNDBN Adult junctional epidermolysis bullosa
Reversed 0
HGVS NC_000017.10:g.73738672G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015861.21,