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rs72667022

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72667022(A;A)
Make rs72667022(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position50198433
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72667022
ebirs72667022
HLIrs72667022
Exacrs72667022
Varsomers72667022
Maprs72667022
PheGenIrs72667022
hapmaprs72667022
1000 genomesrs72667022
hgdprs72667022
ensemblrs72667022
gopubmedrs72667022
geneviewrs72667022
scholarrs72667022
googlers72667022
pharmgkbrs72667022
gwascentralrs72667022
openSNPrs72667022
23andMers72667022
23andMe allrs72667022
SNP Nexus

SNPshotrs72667022
SNPdbers72667022
MSV3drs72667022
GWAS Ctlgrs72667022
Max Magnitude0
ClinVar
Risk rs72667022(A;A)
Alt rs72667022(A;A)
Reference rs72667022(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A1
CLNDBN Ehlers-Danlos syndrome, type 7A
Reversed 1
HGVS NC_000017.10:g.48275794C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018852.24,