rs113994164

Orientation

plus

Stabilized

plus

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

Make rs113994164(-;-)

Make rs113994164(-;CTT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74529320

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs113994164
dbSNP (classic)	rs113994164
ClinGen	rs113994164
ebi	rs113994164
HLI	rs113994164
Exac	rs113994164
Gnomad	rs113994164
Varsome	rs113994164
LitVar	rs113994164
Map	rs113994164
PheGenI	rs113994164
Biobank	rs113994164
1000 genomes	rs113994164
hgdp	rs113994164
ensembl	rs113994164
geneview	rs113994164
scholar	rs113994164
google	rs113994164
pharmgkb	rs113994164
gwascentral	rs113994164
openSNP	rs113994164
23andMe	rs113994164
SNPshot	rs113994164
SNPdbe	rs113994164
MSV3d	rs113994164
GWAS Ctlg	rs113994164

Max Magnitude

0

OMIM	300095
Desc
Variant	0010
Related	also

ClinVar
Risk	rs113994164(-;-)
Alt	rs113994164(-;-)
Reference	Rs113994164(CTT;CTT)
Significance	Pathogenic
Disease	Allan-Herndon-Dudley syndrome
Variation	info
Gene	SLC16A2
CLNDBN	Allan-Herndon-Dudley syndrome
Reversed	0
HGVS	NC_000023.10:g.73749155_73749157delCTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020649.1,