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rs72656357

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72656357(C;C)
Make rs72656357(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position94401622
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72656357
ebirs72656357
HLIrs72656357
Exacrs72656357
Varsomers72656357
Maprs72656357
PheGenIrs72656357
hapmaprs72656357
1000 genomesrs72656357
hgdprs72656357
ensemblrs72656357
gopubmedrs72656357
geneviewrs72656357
scholarrs72656357
googlers72656357
pharmgkbrs72656357
gwascentralrs72656357
openSNPrs72656357
23andMers72656357
23andMe allrs72656357
SNP Nexus

SNPshotrs72656357
SNPdbers72656357
MSV3drs72656357
GWAS Ctlgrs72656357
Max Magnitude0
ClinVar
Risk rs72656357(C;C)
Alt rs72656357(C;C)
Reference rs72656357(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A2
CLNDBN Ehlers-Danlos syndrome, type 7B
Reversed 0
HGVS NC_000007.13:g.94030934T>C
CLNSRC OMIM Allelic Variant Osteogenesis Imperfecta Mutation Database COL1A2
CLNACC RCV000018773.27,