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rs121912933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912933(C;T)
Make rs121912933(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position134774901
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs121912933
ebirs121912933
HLIrs121912933
Exacrs121912933
Varsomers121912933
Maprs121912933
PheGenIrs121912933
hapmaprs121912933
1000 genomesrs121912933
hgdprs121912933
ensemblrs121912933
gopubmedrs121912933
geneviewrs121912933
scholarrs121912933
googlers121912933
pharmgkbrs121912933
gwascentralrs121912933
openSNPrs121912933
23andMers121912933
23andMe allrs121912933
SNP Nexus

SNPshotrs121912933
SNPdbers121912933
MSV3drs121912933
GWAS Ctlgrs121912933
Max Magnitude0
OMIM120215
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912933(T;T)
Alt rs121912933(T;T)
Reference rs121912933(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137666747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018731.28,