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rs797044459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044459(-;C)
Make rs797044459(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94404569
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs797044459
ClinGenrs797044459
ebirs797044459
HLIrs797044459
Exacrs797044459
Varsomers797044459
Maprs797044459
PheGenIrs797044459
hapmaprs797044459
1000 genomesrs797044459
hgdprs797044459
ensemblrs797044459
gopubmedrs797044459
geneviewrs797044459
scholarrs797044459
googlers797044459
pharmgkbrs797044459
gwascentralrs797044459
openSNPrs797044459
23andMers797044459
23andMe allrs797044459
SNP Nexus

SNPshotrs797044459
SNPdbers797044459
MSV3drs797044459
GWAS Ctlgrs797044459
Max Magnitude0
ClinVar
Risk rs797044459(C;C)
Alt rs797044459(C;C)
Reference Rs797044459(-;-)
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.94033881dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018821.28,