Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912830(A;A)
Make rs121912830(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position48592613
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912830
ebirs121912830
HLIrs121912830
Exacrs121912830
Varsomers121912830
Maprs121912830
PheGenIrs121912830
hapmaprs121912830
1000 genomesrs121912830
hgdprs121912830
ensemblrs121912830
gopubmedrs121912830
geneviewrs121912830
scholarrs121912830
googlers121912830
pharmgkbrs121912830
gwascentralrs121912830
openSNPrs121912830
23andMers121912830
23andMe allrs121912830
SNP Nexus

SNPshotrs121912830
SNPdbers121912830
MSV3drs121912830
GWAS Ctlgrs121912830
Max Magnitude0
OMIM120120
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912830(A,T;A,T)
Alt rs121912830(A,T;A,T)
Reference rs121912830(C;C)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa
Reversed 1
HGVS NC_000003.11:g.48630046G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018973.28,