rs1057518928

Orientation

minus

Stabilized

minus

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

Make rs1057518928(C;T)

Make rs1057518928(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

23665471

Gene

SOX5

is a	snp
is	mentioned by
dbSNP	rs1057518928
dbSNP (classic)	rs1057518928
ClinGen	rs1057518928
ebi	rs1057518928
HLI	rs1057518928
Exac	rs1057518928
Gnomad	rs1057518928
Varsome	rs1057518928
LitVar	rs1057518928
Map	rs1057518928
PheGenI	rs1057518928
Biobank	rs1057518928
1000 genomes	rs1057518928
hgdp	rs1057518928
ensembl	rs1057518928
geneview	rs1057518928
scholar	rs1057518928
google	rs1057518928
pharmgkb	rs1057518928
gwascentral	rs1057518928
openSNP	rs1057518928
23andMe	rs1057518928
SNPshot	rs1057518928
SNPdbe	rs1057518928
MSV3d	rs1057518928
GWAS Ctlg	rs1057518928

Max Magnitude

0

ClinVar
Risk	rs1057518928(T;T)
Alt	rs1057518928(T;T)
Reference	Rs1057518928(C;C)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy Generalized hypotonia Severe global developmental delay
Variation	info
Gene	SOX5
CLNDBN	Epileptic encephalopathy Generalized hypotonia Severe global developmental delay
Reversed	1
HGVS	NC_000012.11:g.23818405G>A
CLNSRC
CLNACC	RCV000414883.1,