rs398123199

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Fabry disease mutation; X-linked so risk is to sons
(T;T)	6	Fabry disease

Make rs398123199(C;G)

Make rs398123199(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101407785

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs398123199
dbSNP (classic)	rs398123199
ClinGen	rs398123199
ebi	rs398123199
HLI	rs398123199
Exac	rs398123199
Gnomad	rs398123199
Varsome	rs398123199
LitVar	rs398123199
Map	rs398123199
PheGenI	rs398123199
Biobank	rs398123199
1000 genomes	rs398123199
hgdp	rs398123199
ensembl	rs398123199
geneview	rs398123199
scholar	rs398123199
google	rs398123199
pharmgkb	rs398123199
gwascentral	rs398123199
openSNP	rs398123199
23andMe	rs398123199
SNPshot	rs398123199
SNPdbe	rs398123199
MSV3d	rs398123199
GWAS Ctlg	rs398123199

Max Magnitude

6

ClinVar
Risk	rs398123199(G;G)
Alt	rs398123199(G;G)
Reference	Rs398123199(C;C)
Significance	Probable-Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100662773G>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000078264.4,