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rs67162110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67162110(A;A)
Make rs67162110(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94412122
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs67162110
dbSNP (classic)rs67162110
ClinGenrs67162110
ebirs67162110
HLIrs67162110
Exacrs67162110
Gnomadrs67162110
Varsomers67162110
LitVarrs67162110
Maprs67162110
PheGenIrs67162110
Biobankrs67162110
1000 genomesrs67162110
hgdprs67162110
ensemblrs67162110
geneviewrs67162110
scholarrs67162110
googlers67162110
pharmgkbrs67162110
gwascentralrs67162110
openSNPrs67162110
23andMers67162110
SNPshotrs67162110
SNPdbers67162110
MSV3drs67162110
GWAS Ctlgrs67162110
Max Magnitude0
ClinVar
Risk rs67162110(A;A) rs67162110(C;C)
Alt rs67162110(A;A) rs67162110(C;C)
Reference Rs67162110(G;G)
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.94041434G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018816.29,