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rs2229489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 0 Likely to be benign according to ClinVar
(T;T) 0 common on affy axiom data


Make rs2229489(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position21842352
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229489
dbSNP (old)rs2229489
ClinGenrs2229489
ebirs2229489
HLIrs2229489
Exacrs2229489
Gnomadrs2229489
Varsomers2229489
LitVarrs2229489
Maprs2229489
PheGenIrs2229489
Biobankrs2229489
1000 genomesrs2229489
hgdprs2229489
ensemblrs2229489
gopubmedrs2229489
geneviewrs2229489
scholarrs2229489
googlers2229489
pharmgkbrs2229489
gwascentralrs2229489
openSNPrs2229489
23andMers2229489
23andMe allrs2229489
SNPshotrs2229489
SNPdbers2229489
MSV3drs2229489
GWAS Ctlgrs2229489
GMAF0.0225
Max Magnitude0



ClinVar
Risk rs2229489(A;A)
Alt rs2229489(A;A)
Reference Rs2229489(T;T)
Significance Probable-non-pathogenic
Disease Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Variation info
Gene HSPG2
CLNDBN Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Reversed 1
HGVS NC_000001.10:g.22168845A>T
CLNSRC
CLNACC RCV000262561.1, RCV000354940.1,