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rs121912927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912927(A;A)
Make rs121912927(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188990308
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912927
ebirs121912927
HLIrs121912927
Exacrs121912927
Varsomers121912927
Maprs121912927
PheGenIrs121912927
hapmaprs121912927
1000 genomesrs121912927
hgdprs121912927
ensemblrs121912927
gopubmedrs121912927
geneviewrs121912927
scholarrs121912927
googlers121912927
pharmgkbrs121912927
gwascentralrs121912927
openSNPrs121912927
23andMers121912927
23andMe allrs121912927
SNP Nexus

SNPshotrs121912927
SNPdbers121912927
MSV3drs121912927
GWAS Ctlgrs121912927
Max Magnitude0
OMIM120180
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121912927(A,T;A,T)
Alt rs121912927(A,T;A,T)
Reference rs121912927(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.189855034G>A; NC_000002.11:g.189855034G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018748.28, RCV000087533.1,