rs104894938

Orientation

plus

Stabilized

plus

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

Make rs104894938(C;C)

Make rs104894938(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74531414

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs104894938
dbSNP (classic)	rs104894938
ClinGen	rs104894938
ebi	rs104894938
HLI	rs104894938
Exac	rs104894938
Gnomad	rs104894938
Varsome	rs104894938
LitVar	rs104894938
Map	rs104894938
PheGenI	rs104894938
Biobank	rs104894938
1000 genomes	rs104894938
hgdp	rs104894938
ensembl	rs104894938
geneview	rs104894938
scholar	rs104894938
google	rs104894938
pharmgkb	rs104894938
gwascentral	rs104894938
openSNP	rs104894938
23andMe	rs104894938
SNPshot	rs104894938
SNPdbe	rs104894938
MSV3d	rs104894938
GWAS Ctlg	rs104894938

Max Magnitude

0

OMIM	300095
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894938(C;C)
Alt	rs104894938(C;C)
Reference	Rs104894938(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.73751249T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012404.17,