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rs121912924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912924(A;A)
Make rs121912924(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189007546
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912924
ebirs121912924
HLIrs121912924
Exacrs121912924
Varsomers121912924
Maprs121912924
PheGenIrs121912924
hapmaprs121912924
1000 genomesrs121912924
hgdprs121912924
ensemblrs121912924
gopubmedrs121912924
geneviewrs121912924
scholarrs121912924
googlers121912924
pharmgkbrs121912924
gwascentralrs121912924
openSNPrs121912924
23andMers121912924
23andMe allrs121912924
SNP Nexus

SNPshotrs121912924
SNPdbers121912924
MSV3drs121912924
GWAS Ctlgrs121912924
Max Magnitude0
OMIM120180
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912924(A;A)
Alt rs121912924(A;A)
Reference rs121912924(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189872272G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018766.27,