rs104894936

Orientation

plus

Stabilized

plus

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

Make rs104894936(C;T)

Make rs104894936(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

74521008

Gene

SLC16A2

is a	snp
is	mentioned by
dbSNP	rs104894936
dbSNP (classic)	rs104894936
ClinGen	rs104894936
ebi	rs104894936
HLI	rs104894936
Exac	rs104894936
Gnomad	rs104894936
Varsome	rs104894936
LitVar	rs104894936
Map	rs104894936
PheGenI	rs104894936
Biobank	rs104894936
1000 genomes	rs104894936
hgdp	rs104894936
ensembl	rs104894936
geneview	rs104894936
scholar	rs104894936
google	rs104894936
pharmgkb	rs104894936
gwascentral	rs104894936
openSNP	rs104894936
23andMe	rs104894936
SNPshot	rs104894936
SNPdbe	rs104894936
MSV3d	rs104894936
GWAS Ctlg	rs104894936

Max Magnitude

0

OMIM	300095
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894936(A;A) rs104894936(T;T)
Alt	rs104894936(A;A) rs104894936(T;T)
Reference	Rs104894936(C;C)
Significance	Pathogenic
Disease	Allan-Herndon-Dudley syndrome not provided
Variation	info
Gene	SLC16A2
CLNDBN	Allan-Herndon-Dudley syndrome not provided
Reversed	0
HGVS	NC_000023.10:g.73740843C>A; NC_000023.10:g.73740843C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000147499.1, RCV000012400.17, RCV000081445.3,