rs104894849

Orientation

minus

Stabilized

minus

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

Make rs104894849(A;A)

Make rs104894849(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398004

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894849
dbSNP (classic)	rs104894849
ClinGen	rs104894849
ebi	rs104894849
HLI	rs104894849
Exac	rs104894849
Gnomad	rs104894849
Varsome	rs104894849
LitVar	rs104894849
Map	rs104894849
PheGenI	rs104894849
Biobank	rs104894849
1000 genomes	rs104894849
hgdp	rs104894849
ensembl	rs104894849
geneview	rs104894849
scholar	rs104894849
google	rs104894849
pharmgkb	rs104894849
gwascentral	rs104894849
openSNP	rs104894849
23andMe	rs104894849
SNPshot	rs104894849
SNPdbe	rs104894849
MSV3d	rs104894849
GWAS Ctlg	rs104894849

Max Magnitude

0

OMIM	300644
Desc
Variant	0055
Related	also

ClinVar
Risk	rs104894849(A;A) rs104894849(C;C)
Alt	rs104894849(A;A) rs104894849(C;C)
Reference	Rs104894849(T;T)
Significance	Pathogenic
Disease	not specified Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	not specified Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100652992A>G; NC_000023.10:g.100652992A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000242527.1, RCV000011514.5,