rs113994166

Orientation

plus

Stabilized

plus

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

Make rs113994166(-;-)

Make rs113994166(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74531545

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs113994166
dbSNP (classic)	rs113994166
ClinGen	rs113994166
ebi	rs113994166
HLI	rs113994166
Exac	rs113994166
Gnomad	rs113994166
Varsome	rs113994166
LitVar	rs113994166
Map	rs113994166
PheGenI	rs113994166
Biobank	rs113994166
1000 genomes	rs113994166
hgdp	rs113994166
ensembl	rs113994166
geneview	rs113994166
scholar	rs113994166
google	rs113994166
pharmgkb	rs113994166
gwascentral	rs113994166
openSNP	rs113994166
23andMe	rs113994166
SNPshot	rs113994166
SNPdbe	rs113994166
MSV3d	rs113994166
GWAS Ctlg	rs113994166

Max Magnitude

0

OMIM	300095
Desc
Variant	0011
Related	also

ClinVar
Risk	rs113994166(-;-)
Alt	rs113994166(-;-)
Reference	Rs113994166(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.73751380delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012408.17,