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rs1874792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0 Benign
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position21880742
GeneHSPG2
is asnp
is mentioned by
dbSNPrs1874792
dbSNP (old)rs1874792
ClinGenrs1874792
ebirs1874792
HLIrs1874792
Exacrs1874792
Gnomadrs1874792
Varsomers1874792
Maprs1874792
PheGenIrs1874792
Biobankrs1874792
1000 genomesrs1874792
hgdprs1874792
ensemblrs1874792
gopubmedrs1874792
geneviewrs1874792
scholarrs1874792
googlers1874792
pharmgkbrs1874792
gwascentralrs1874792
openSNPrs1874792
23andMers1874792
23andMe allrs1874792
SNPshotrs1874792
SNPdbers1874792
MSV3drs1874792
GWAS Ctlgrs1874792
GMAF0.01882
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk Rs1874792(G;G)
Alt Rs1874792(G;G)
Reference Rs1874792(A;A)
Significance 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.22207235T>C
CLNSRC
CLNACC RCV000260399.1, RCV000296869.1,