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rs2228349

From SNPedia

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


Make rs2228349(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position21841112
GeneHSPG2
is asnp
is mentioned by
dbSNPrs2228349
dbSNP (old)rs2228349
ClinGenrs2228349
ebirs2228349
HLIrs2228349
Exacrs2228349
Varsomers2228349
Maprs2228349
PheGenIrs2228349
Biobankrs2228349
1000 genomesrs2228349
hgdprs2228349
ensemblrs2228349
gopubmedrs2228349
geneviewrs2228349
scholarrs2228349
googlers2228349
pharmgkbrs2228349
gwascentralrs2228349
openSNPrs2228349
23andMers2228349
23andMe allrs2228349
SNP Nexus

SNPshotrs2228349
SNPdbers2228349
MSV3drs2228349
GWAS Ctlgrs2228349
Merged fromRs6701253
GMAF0.07163
Max Magnitude0
GET Evidence
HSPG2-A3168T
aa_change Ala3168Thr
aa_change_short A3168T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.10568
summary



[PMID 23049933OA-icon.png] Polymorphisms of the DNA methyltransferase 1 associated with reduced risks of Helicobacter pylori infection and increased risks of gastric atrophy

ClinVar
Risk rs2228349(A;A)
Alt rs2228349(A;A)
Reference Rs2228349(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.22167605C>T
CLNSRC
CLNACC RCV000259415.1, RCV000316947.1,