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rs121912923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912923(A;A)
Make rs121912923(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188996479
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912923
ebirs121912923
HLIrs121912923
Exacrs121912923
Varsomers121912923
Maprs121912923
PheGenIrs121912923
hapmaprs121912923
1000 genomesrs121912923
hgdprs121912923
ensemblrs121912923
gopubmedrs121912923
geneviewrs121912923
scholarrs121912923
googlers121912923
pharmgkbrs121912923
gwascentralrs121912923
openSNPrs121912923
23andMers121912923
23andMe allrs121912923
SNP Nexus

SNPshotrs121912923
SNPdbers121912923
MSV3drs121912923
GWAS Ctlgrs121912923
Max Magnitude0
OMIM120180
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121912923(A,C;A,C)
Alt rs121912923(A,C;A,C)
Reference rs121912923(G;G)
Significance Other
Disease Ehlers-Danlos syndrome not provided
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4 not provided
Reversed 0
HGVS NC_000002.11:g.189861205G>A; NC_000002.11:g.189861205G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018765.28, RCV000181088.2, RCV000087353.1,