rs2228349

minus

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

Make rs2228349(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

21841112

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs2228349
dbSNP (classic)	rs2228349
ClinGen	rs2228349
ebi	rs2228349
HLI	rs2228349
Exac	rs2228349
Gnomad	rs2228349
Varsome	rs2228349
LitVar	rs2228349
Map	rs2228349
PheGenI	rs2228349
Biobank	rs2228349
1000 genomes	rs2228349
hgdp	rs2228349
ensembl	rs2228349
geneview	rs2228349
scholar	rs2228349
google	rs2228349
pharmgkb	rs2228349
gwascentral	rs2228349
openSNP	rs2228349
23andMe	rs2228349
SNPshot	rs2228349
SNPdbe	rs2228349
MSV3d	rs2228349
GWAS Ctlg	rs2228349

Merged from

Rs6701253

GMAF

0.07163

Max Magnitude

0

[PMID 23049933 ] 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,