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rs121912930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912930(C;C)
Make rs121912930(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189043177
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs121912930
ebirs121912930
HLIrs121912930
Exacrs121912930
Varsomers121912930
Maprs121912930
PheGenIrs121912930
hapmaprs121912930
1000 genomesrs121912930
hgdprs121912930
ensemblrs121912930
gopubmedrs121912930
geneviewrs121912930
scholarrs121912930
googlers121912930
pharmgkbrs121912930
gwascentralrs121912930
openSNPrs121912930
23andMers121912930
23andMe allrs121912930
SNP Nexus

SNPshotrs121912930
SNPdbers121912930
MSV3drs121912930
GWAS Ctlgrs121912930
Max Magnitude0
OMIM120190
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912930(C;C)
Alt rs121912930(C;C)
Reference rs121912930(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A2
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 1
HGVS NC_000002.11:g.189907903C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018738.24,