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rs72656354

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72656354(A;G)
Make rs72656354(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94395818
GeneCOL1A2, LOC101927525
is asnp
is mentioned by
dbSNPrs72656354
ebirs72656354
HLIrs72656354
Exacrs72656354
Varsomers72656354
Maprs72656354
PheGenIrs72656354
hapmaprs72656354
1000 genomesrs72656354
hgdprs72656354
ensemblrs72656354
gopubmedrs72656354
geneviewrs72656354
scholarrs72656354
googlers72656354
pharmgkbrs72656354
gwascentralrs72656354
openSNPrs72656354
23andMers72656354
23andMe allrs72656354
SNP Nexus

SNPshotrs72656354
SNPdbers72656354
MSV3drs72656354
GWAS Ctlgrs72656354
Max Magnitude0
ClinVar
Risk rs72656354(G;G)
Alt rs72656354(G;G)
Reference rs72656354(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A2
CLNDBN Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Reversed 0
HGVS NC_000007.13:g.94025130A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018817.29,