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rs121912926

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912926(A;A)
Make rs121912926(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188988099
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912926
ebirs121912926
HLIrs121912926
Exacrs121912926
Varsomers121912926
Maprs121912926
PheGenIrs121912926
hapmaprs121912926
1000 genomesrs121912926
hgdprs121912926
ensemblrs121912926
gopubmedrs121912926
geneviewrs121912926
scholarrs121912926
googlers121912926
pharmgkbrs121912926
gwascentralrs121912926
openSNPrs121912926
23andMers121912926
23andMe allrs121912926
SNP Nexus

SNPshotrs121912926
SNPdbers121912926
MSV3drs121912926
GWAS Ctlgrs121912926
Max Magnitude0
OMIM120180
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912926(A,C,T;A,C,T)
Alt rs121912926(A,C,T;A,C,T)
Reference rs121912926(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.189852825G>A; NC_000002.11:g.189852825G>C; NC_000002.11:g.189852825G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018768.28, RCV000087428.1, RCV000087408.1,