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rs72656355

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72656355(A;G)
Make rs72656355(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94401565
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72656355
ebirs72656355
HLIrs72656355
Exacrs72656355
Varsomers72656355
Maprs72656355
PheGenIrs72656355
hapmaprs72656355
1000 genomesrs72656355
hgdprs72656355
ensemblrs72656355
gopubmedrs72656355
geneviewrs72656355
scholarrs72656355
googlers72656355
pharmgkbrs72656355
gwascentralrs72656355
openSNPrs72656355
23andMers72656355
23andMe allrs72656355
SNP Nexus

SNPshotrs72656355
SNPdbers72656355
MSV3drs72656355
GWAS Ctlgrs72656355
Max Magnitude0
ClinVar
Risk rs72656355(G;G)
Alt rs72656355(G;G)
Reference rs72656355(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A2
CLNDBN Ehlers-Danlos syndrome, type 7B
Reversed 0
HGVS NC_000007.13:g.94030877A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018811.29,