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rs121912918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912918(A;A)
Make rs121912918(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189008135
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912918
ebirs121912918
HLIrs121912918
Exacrs121912918
Varsomers121912918
Maprs121912918
PheGenIrs121912918
hapmaprs121912918
1000 genomesrs121912918
hgdprs121912918
ensemblrs121912918
gopubmedrs121912918
geneviewrs121912918
scholarrs121912918
googlers121912918
pharmgkbrs121912918
gwascentralrs121912918
openSNPrs121912918
23andMers121912918
23andMe allrs121912918
SNP Nexus

SNPshotrs121912918
SNPdbers121912918
MSV3drs121912918
GWAS Ctlgrs121912918
Max Magnitude0
OMIM120180
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912918(A,T;A,T)
Alt rs121912918(A,T;A,T)
Reference rs121912918(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.189872861G>A; NC_000002.11:g.189872861G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018757.28, RCV000087613.1,