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rs137853147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853147(A;A)
Make rs137853147(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position179130005
GeneADAMTS2
is asnp
is mentioned by
dbSNPrs137853147
ebirs137853147
HLIrs137853147
Exacrs137853147
Varsomers137853147
Maprs137853147
PheGenIrs137853147
hapmaprs137853147
1000 genomesrs137853147
hgdprs137853147
ensemblrs137853147
gopubmedrs137853147
geneviewrs137853147
scholarrs137853147
googlers137853147
pharmgkbrs137853147
gwascentralrs137853147
openSNPrs137853147
23andMers137853147
23andMe allrs137853147
SNP Nexus

SNPshotrs137853147
SNPdbers137853147
MSV3drs137853147
GWAS Ctlgrs137853147
Max Magnitude0
OMIM604539
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853147(A;A)
Alt rs137853147(A;A)
Reference rs137853147(G;G)
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.178557006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005838.2,