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rs2229491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0 Likely to be benign according to ClinVar
Make rs2229491(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position21842308
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229491
dbSNP (old)rs2229491
ClinGenrs2229491
ebirs2229491
HLIrs2229491
Exacrs2229491
Gnomadrs2229491
Varsomers2229491
Maprs2229491
PheGenIrs2229491
Biobankrs2229491
1000 genomesrs2229491
hgdprs2229491
ensemblrs2229491
gopubmedrs2229491
geneviewrs2229491
scholarrs2229491
googlers2229491
pharmgkbrs2229491
gwascentralrs2229491
openSNPrs2229491
23andMers2229491
23andMe allrs2229491
SNPshotrs2229491
SNPdbers2229491
MSV3drs2229491
GWAS Ctlgrs2229491
GMAF0.07759
Max Magnitude0
? (A;A) (A;G) (G;G) 28





ClinVar
Risk rs2229491(C;C) rs2229491(G;G) rs2229491(T;T)
Alt rs2229491(C;C) rs2229491(G;G) rs2229491(T;T)
Reference Rs2229491(A;A)
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.22168801T>C
CLNSRC
CLNACC RCV000313160.1, RCV000370135.1,