rs104894939

Orientation

plus

Stabilized

plus

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

Make rs104894939(G;G)

Make rs104894939(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74525802

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs104894939
dbSNP (classic)	rs104894939
ClinGen	rs104894939
ebi	rs104894939
HLI	rs104894939
Exac	rs104894939
Gnomad	rs104894939
Varsome	rs104894939
LitVar	rs104894939
Map	rs104894939
PheGenI	rs104894939
Biobank	rs104894939
1000 genomes	rs104894939
hgdp	rs104894939
ensembl	rs104894939
geneview	rs104894939
scholar	rs104894939
google	rs104894939
pharmgkb	rs104894939
gwascentral	rs104894939
openSNP	rs104894939
23andMe	rs104894939
SNPshot	rs104894939
SNPdbe	rs104894939
MSV3d	rs104894939
GWAS Ctlg	rs104894939

Max Magnitude

0

OMIM	300095
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894939(G;G)
Alt	rs104894939(G;G)
Reference	Rs104894939(T;T)
Significance	Pathogenic
Disease	Allan-Herndon-Dudley syndrome
Variation	info
Gene	SLC16A2
CLNDBN	Allan-Herndon-Dudley syndrome
Reversed	0
HGVS	NC_000023.10:g.73745637T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012405.25,