rs1057518845

Orientation

minus

Stabilized

minus

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

Make rs1057518845(A;C)

Make rs1057518845(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

23755726

Gene	LOC105369696, SOX5

is a	snp
is	mentioned by
dbSNP	rs1057518845
dbSNP (classic)	rs1057518845
ClinGen	rs1057518845
ebi	rs1057518845
HLI	rs1057518845
Exac	rs1057518845
Gnomad	rs1057518845
Varsome	rs1057518845
LitVar	rs1057518845
Map	rs1057518845
PheGenI	rs1057518845
Biobank	rs1057518845
1000 genomes	rs1057518845
hgdp	rs1057518845
ensembl	rs1057518845
geneview	rs1057518845
scholar	rs1057518845
google	rs1057518845
pharmgkb	rs1057518845
gwascentral	rs1057518845
openSNP	rs1057518845
23andMe	rs1057518845
SNPshot	rs1057518845
SNPdbe	rs1057518845
MSV3d	rs1057518845
GWAS Ctlg	rs1057518845

Max Magnitude

0

ClinVar
Risk	rs1057518845(C;C)
Alt	rs1057518845(C;C)
Reference	Rs1057518845(A;A)
Significance	Probable-Pathogenic
Disease	Aplasia/Hypoplasia of the nails Central hypotonia Generalized hypotonia Strabismus Thoracolumbar scoliosis
Variation	info
Gene	SOX5
CLNDBN	Aplasia/Hypoplasia of the nails Central hypotonia Generalized hypotonia Strabismus Thoracolumbar scoliosis
Reversed	1
HGVS	NC_000012.11:g.23908660T>G
CLNSRC
CLNACC	RCV000414904.1,