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rs121912932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912932(A;A)
Make rs121912932(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position134820135
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs121912932
ebirs121912932
HLIrs121912932
Exacrs121912932
Varsomers121912932
Maprs121912932
PheGenIrs121912932
hapmaprs121912932
1000 genomesrs121912932
hgdprs121912932
ensemblrs121912932
gopubmedrs121912932
geneviewrs121912932
scholarrs121912932
googlers121912932
pharmgkbrs121912932
gwascentralrs121912932
openSNPrs121912932
23andMers121912932
23andMe allrs121912932
SNP Nexus

SNPshotrs121912932
SNPdbers121912932
MSV3drs121912932
GWAS Ctlgrs121912932
Max Magnitude0
OMIM120215
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912932(A;A)
Alt rs121912932(A;A)
Reference rs121912932(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137711981G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018729.28,