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rs121912920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912920(A;A)
Make rs121912920(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189002316
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912920
ebirs121912920
HLIrs121912920
Exacrs121912920
Varsomers121912920
Maprs121912920
PheGenIrs121912920
hapmaprs121912920
1000 genomesrs121912920
hgdprs121912920
ensemblrs121912920
gopubmedrs121912920
geneviewrs121912920
scholarrs121912920
googlers121912920
pharmgkbrs121912920
gwascentralrs121912920
openSNPrs121912920
23andMers121912920
23andMe allrs121912920
SNP Nexus

SNPshotrs121912920
SNPdbers121912920
MSV3drs121912920
GWAS Ctlgrs121912920
Max Magnitude0
OMIM120180
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121912920(A;A)
Alt rs121912920(A;A)
Reference rs121912920(G;G)
Significance Pathogenic
Disease EHLERS-DANLOS SYNDROME
Variation info
Gene COL3A1
CLNDBN EHLERS-DANLOS SYNDROME, TYPE IV, NONVASCULAR VARIANT
Reversed 0
HGVS NC_000002.11:g.189867042G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018761.28,