rs113994162

Orientation

plus

Stabilized

plus

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

Make rs113994162(C;T)

Make rs113994162(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74421996

Gene	LOC105373252, SLC16A2

is a	snp
is	mentioned by
dbSNP	rs113994162
dbSNP (classic)	rs113994162
ClinGen	rs113994162
ebi	rs113994162
HLI	rs113994162
Exac	rs113994162
Gnomad	rs113994162
Varsome	rs113994162
LitVar	rs113994162
Map	rs113994162
PheGenI	rs113994162
Biobank	rs113994162
1000 genomes	rs113994162
hgdp	rs113994162
ensembl	rs113994162
geneview	rs113994162
scholar	rs113994162
google	rs113994162
pharmgkb	rs113994162
gwascentral	rs113994162
openSNP	rs113994162
23andMe	rs113994162
SNPshot	rs113994162
SNPdbe	rs113994162
MSV3d	rs113994162
GWAS Ctlg	rs113994162

Max Magnitude

0

ClinVar
Risk	rs113994162(T;T)
Alt	rs113994162(T;T)
Reference	Rs113994162(C;C)
Significance	Pathogenic
Disease	Allan-Herndon-Dudley syndrome
Variation	info
Gene	SLC16A2
CLNDBN	Allan-Herndon-Dudley syndrome
Reversed	0
HGVS	NC_000023.10:g.73641831C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020651.1,

OMIM	300523
Desc
Variant
Related	also