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rs72659343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72659343(G;T)
Make rs72659343(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94428367
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72659343
ebirs72659343
HLIrs72659343
Exacrs72659343
Varsomers72659343
Maprs72659343
PheGenIrs72659343
hapmaprs72659343
1000 genomesrs72659343
hgdprs72659343
ensemblrs72659343
gopubmedrs72659343
geneviewrs72659343
scholarrs72659343
googlers72659343
pharmgkbrs72659343
gwascentralrs72659343
openSNPrs72659343
23andMers72659343
23andMe allrs72659343
SNP Nexus

SNPshotrs72659343
SNPdbers72659343
MSV3drs72659343
GWAS Ctlgrs72659343
Max Magnitude0
OMIM120160
Desc
Variant0051
Relatedalso


ClinVar
Risk rs72659343(A,T;A,T)
Alt rs72659343(A,T;A,T)
Reference rs72659343(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.94057679G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018820.27,