rs398123226

Orientation

minus

Stabilized

minus

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

Make rs398123226(C;G)

Make rs398123226(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398403

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs398123226
dbSNP (classic)	rs398123226
ClinGen	rs398123226
ebi	rs398123226
HLI	rs398123226
Exac	rs398123226
Gnomad	rs398123226
Varsome	rs398123226
LitVar	rs398123226
Map	rs398123226
PheGenI	rs398123226
Biobank	rs398123226
1000 genomes	rs398123226
hgdp	rs398123226
ensembl	rs398123226
geneview	rs398123226
scholar	rs398123226
google	rs398123226
pharmgkb	rs398123226
gwascentral	rs398123226
openSNP	rs398123226
23andMe	rs398123226
SNPshot	rs398123226
SNPdbe	rs398123226
MSV3d	rs398123226
GWAS Ctlg	rs398123226

Max Magnitude

6

ClinVar
Risk	Rs398123226(A;A) rs398123226(G;G)
Alt	Rs398123226(A;A) rs398123226(G;G)
Reference	Rs398123226(C;C)
Significance	Pathogenic
Disease	Fabry disease not provided
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease not provided
Reversed	1
HGVS	NC_000023.10:g.100653391G>C; NC_000023.10:g.100653391G>T
CLNSRC	HGMD
CLNACC	RCV000078304.6, RCV000367678.1,