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rs137853146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853146(C;T)
Make rs137853146(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position179272926
GeneADAMTS2
is asnp
is mentioned by
dbSNPrs137853146
ebirs137853146
HLIrs137853146
Exacrs137853146
Varsomers137853146
Maprs137853146
PheGenIrs137853146
hapmaprs137853146
1000 genomesrs137853146
hgdprs137853146
ensemblrs137853146
gopubmedrs137853146
geneviewrs137853146
scholarrs137853146
googlers137853146
pharmgkbrs137853146
gwascentralrs137853146
openSNPrs137853146
23andMers137853146
23andMe allrs137853146
SNP Nexus

SNPshotrs137853146
SNPdbers137853146
MSV3drs137853146
GWAS Ctlgrs137853146
Max Magnitude0
OMIM604539
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853146(T;T)
Alt rs137853146(T;T)
Reference rs137853146(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene ADAMTS2
CLNDBN Ehlers-Danlos syndrome, type vii, autosomal recessive
Reversed 1
HGVS NC_000005.9:g.178699927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005837.2,