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rs1054480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1054480(C;T)
Make rs1054480(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position179113974
GeneADAMTS2
is asnp
is mentioned by
dbSNPrs1054480
dbSNP (classic)rs1054480
ClinGenrs1054480
ebirs1054480
HLIrs1054480
Exacrs1054480
Gnomadrs1054480
Varsomers1054480
LitVarrs1054480
Maprs1054480
PheGenIrs1054480
Biobankrs1054480
1000 genomesrs1054480
hgdprs1054480
ensemblrs1054480
geneviewrs1054480
scholarrs1054480
googlers1054480
pharmgkbrs1054480
gwascentralrs1054480
openSNPrs1054480
23andMers1054480
23andMe allrs1054480
SNPshotrs1054480
SNPdbers1054480
MSV3drs1054480
GWAS Ctlgrs1054480
GMAF0.2521
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 23491141] Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study



ClinVar
Risk rs1054480(T;T)
Alt rs1054480(T;T)
Reference Rs1054480(C;C)
Significance Non-pathogenic
Disease Ehlers-Danlos syndrome not specified
Variation info
Gene ADAMTS2
CLNDBN Ehlers-Danlos syndrome, type vii, autosomal recessive not specified
Reversed 1
HGVS NC_000005.9:g.178540975G>A
CLNSRC
CLNACC RCV000299782.1, RCV000422671.1,