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rs121912914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912914(A;A)
Make rs121912914(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189006400
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912914
ebirs121912914
HLIrs121912914
Exacrs121912914
Varsomers121912914
Maprs121912914
PheGenIrs121912914
hapmaprs121912914
1000 genomesrs121912914
hgdprs121912914
ensemblrs121912914
gopubmedrs121912914
geneviewrs121912914
scholarrs121912914
googlers121912914
pharmgkbrs121912914
gwascentralrs121912914
openSNPrs121912914
23andMers121912914
23andMe allrs121912914
SNP Nexus

SNPshotrs121912914
SNPdbers121912914
MSV3drs121912914
GWAS Ctlgrs121912914
Merged fromRs121912929
Max Magnitude0
OMIM120180
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912914(A,T;A,T)
Alt rs121912914(A,T;A,T)
Reference rs121912914(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.189871126G>A; NC_000002.11:g.189871126G>T
CLNSRC OMIM Allelic Variant Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000018741.23, RCV000018771.24,