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rs121912996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912996(C;T)
Make rs121912996(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7583062
GeneDSP
is asnp
is mentioned by
dbSNPrs121912996
ebirs121912996
HLIrs121912996
Exacrs121912996
Varsomers121912996
Maprs121912996
PheGenIrs121912996
hapmaprs121912996
1000 genomesrs121912996
hgdprs121912996
ensemblrs121912996
gopubmedrs121912996
geneviewrs121912996
scholarrs121912996
googlers121912996
pharmgkbrs121912996
gwascentralrs121912996
openSNPrs121912996
23andMers121912996
23andMe allrs121912996
SNP Nexus

SNPshotrs121912996
SNPdbers121912996
MSV3drs121912996
GWAS Ctlgrs121912996
Max Magnitude0
OMIM125647
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912996(A,T;A,T)
Alt rs121912996(A,T;A,T)
Reference rs121912996(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa
Variation info
Gene DSP
CLNDBN Epidermolysis bullosa, lethal acantholytic
Reversed 0
HGVS NC_000006.11:g.7583295C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018337.29,