Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs2229493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 0 Likely to be benign according to ClinVar
(G;G) 0 common in clinvar


Make rs2229493(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position21833550
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2229493
dbSNP (old)rs2229493
ClinGenrs2229493
ebirs2229493
HLIrs2229493
Exacrs2229493
Gnomadrs2229493
Varsomers2229493
Maprs2229493
PheGenIrs2229493
Biobankrs2229493
1000 genomesrs2229493
hgdprs2229493
ensemblrs2229493
gopubmedrs2229493
geneviewrs2229493
scholarrs2229493
googlers2229493
pharmgkbrs2229493
gwascentralrs2229493
openSNPrs2229493
23andMers2229493
23andMe allrs2229493
SNPshotrs2229493
SNPdbers2229493
MSV3drs2229493
GWAS Ctlgrs2229493
GMAF0.0753
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs2229493(A;A) rs2229493(C;C) rs2229493(T;T)
Alt rs2229493(A;A) rs2229493(C;C) rs2229493(T;T)
Reference Rs2229493(G;G)
Significance Probable-non-pathogenic
Disease Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Variation info
Gene HSPG2
CLNDBN Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Reversed 1
HGVS NC_000001.10:g.22160043C>T
CLNSRC
CLNACC RCV000276227.1, RCV000389238.1,