rs104894940

Orientation

plus

Stabilized

plus

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

Make rs104894940(A;A)

Make rs104894940(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74525844

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs104894940
dbSNP (classic)	rs104894940
ClinGen	rs104894940
ebi	rs104894940
HLI	rs104894940
Exac	rs104894940
Gnomad	rs104894940
Varsome	rs104894940
LitVar	rs104894940
Map	rs104894940
PheGenI	rs104894940
Biobank	rs104894940
1000 genomes	rs104894940
hgdp	rs104894940
ensembl	rs104894940
geneview	rs104894940
scholar	rs104894940
google	rs104894940
pharmgkb	rs104894940
gwascentral	rs104894940
openSNP	rs104894940
23andMe	rs104894940
SNPshot	rs104894940
SNPdbe	rs104894940
MSV3d	rs104894940
GWAS Ctlg	rs104894940

Max Magnitude

0

OMIM	300095
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894940(A;A)
Alt	rs104894940(A;A)
Reference	Rs104894940(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.73745679C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012406.23,