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rs121912925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912925(A;A)
Make rs121912925(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188999560
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912925
ebirs121912925
HLIrs121912925
Exacrs121912925
Varsomers121912925
Maprs121912925
PheGenIrs121912925
hapmaprs121912925
1000 genomesrs121912925
hgdprs121912925
ensemblrs121912925
gopubmedrs121912925
geneviewrs121912925
scholarrs121912925
googlers121912925
pharmgkbrs121912925
gwascentralrs121912925
openSNPrs121912925
23andMers121912925
23andMe allrs121912925
SNP Nexus

SNPshotrs121912925
SNPdbers121912925
MSV3drs121912925
GWAS Ctlgrs121912925
Max Magnitude0
OMIM120180
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912925(A,T;A,T)
Alt rs121912925(A,T;A,T)
Reference rs121912925(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.189864286G>A; NC_000002.11:g.189864286G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018767.28, RCV000087593.1,