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rs72645347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72645347(C;T)
Make rs72645347(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196337
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645347
ebirs72645347
HLIrs72645347
Exacrs72645347
Varsomers72645347
Maprs72645347
PheGenIrs72645347
hapmaprs72645347
1000 genomesrs72645347
hgdprs72645347
ensemblrs72645347
gopubmedrs72645347
geneviewrs72645347
scholarrs72645347
googlers72645347
pharmgkbrs72645347
gwascentralrs72645347
openSNPrs72645347
23andMers72645347
23andMe allrs72645347
SNP Nexus

SNPshotrs72645347
SNPdbers72645347
MSV3drs72645347
GWAS Ctlgrs72645347
Max Magnitude0
OMIM120150
Desc
Variant0059
Relatedalso


ClinVar
Risk rs72645347(T;T)
Alt rs72645347(T;T)
Reference rs72645347(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 1
HGVS NC_000017.10:g.48273698G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018884.29,