rs1057519268

Orientation

minus

Stabilized

minus

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

Make rs1057519268(-;C)

Make rs1057519268(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

125233144

Gene

ZNF148

is a	snp
is	mentioned by
dbSNP	rs1057519268
dbSNP (classic)	rs1057519268
ClinGen	rs1057519268
ebi	rs1057519268
HLI	rs1057519268
Exac	rs1057519268
Gnomad	rs1057519268
Varsome	rs1057519268
LitVar	rs1057519268
Map	rs1057519268
PheGenI	rs1057519268
Biobank	rs1057519268
1000 genomes	rs1057519268
hgdp	rs1057519268
ensembl	rs1057519268
geneview	rs1057519268
scholar	rs1057519268
google	rs1057519268
pharmgkb	rs1057519268
gwascentral	rs1057519268
openSNP	rs1057519268
23andMe	rs1057519268
SNPshot	rs1057519268
SNPdbe	rs1057519268
MSV3d	rs1057519268
GWAS Ctlg	rs1057519268

Max Magnitude

0

ClinVar
Risk	rs1057519268(C;C)
Alt	rs1057519268(C;C)
Reference	Rs1057519268(-;-)
Significance	Pathogenic
Disease	Global developmental delay
Variation	info
Gene	ZNF148
CLNDBN	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Reversed	1
HGVS	NC_000003.11:g.124951988_124951989insG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415613.1,