rs869312143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs869312143(C;C)

Make rs869312143(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101401718

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312143
dbSNP (classic)	rs869312143
ClinGen	rs869312143
ebi	rs869312143
HLI	rs869312143
Exac	rs869312143
Gnomad	rs869312143
Varsome	rs869312143
LitVar	rs869312143
Map	rs869312143
PheGenI	rs869312143
Biobank	rs869312143
1000 genomes	rs869312143
hgdp	rs869312143
ensembl	rs869312143
geneview	rs869312143
scholar	rs869312143
google	rs869312143
pharmgkb	rs869312143
gwascentral	rs869312143
openSNP	rs869312143
23andMe	rs869312143
SNPshot	rs869312143
SNPdbe	rs869312143
MSV3d	rs869312143
GWAS Ctlg	rs869312143

Max Magnitude

0

ClinVar
Risk	rs869312143(C;C)
Alt	rs869312143(C;C)
Reference	Rs869312143(T;T)
Significance	Drug-response
Disease	Fabry disease Deoxygalactonojirimycin response
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Deoxygalactonojirimycin response
Reversed	1
HGVS	NC_000023.10:g.100656706A>G
CLNSRC
CLNACC	RCV000208908.1, RCV000209298.1,