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rs121912929

From SNPedia

Merged intors121912914
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912929(G;T)
Make rs121912929(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189006400
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912929
ebirs121912929
HLIrs121912929
Exacrs121912929
Varsomers121912929
Maprs121912929
PheGenIrs121912929
hapmaprs121912929
1000 genomesrs121912929
hgdprs121912929
ensemblrs121912929
gopubmedrs121912929
geneviewrs121912929
scholarrs121912929
googlers121912929
pharmgkbrs121912929
gwascentralrs121912929
openSNPrs121912929
23andMers121912929
23andMe allrs121912929
SNP Nexus

SNPshotrs121912929
SNPdbers121912929
MSV3drs121912929
GWAS Ctlgrs121912929
StatusMerged into rs121912914
Max Magnitude0
OMIM120180
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121912929(T;T)
Alt rs121912929(T;T)
Reference rs121912929(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>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000039054.1,