rs1057519265

Orientation

minus

Stabilized

minus

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

Make rs1057519265(A;T)

Make rs1057519265(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

125232934

Gene

ZNF148

is a	snp
is	mentioned by
dbSNP	rs1057519265
dbSNP (classic)	rs1057519265
ClinGen	rs1057519265
ebi	rs1057519265
HLI	rs1057519265
Exac	rs1057519265
Gnomad	rs1057519265
Varsome	rs1057519265
LitVar	rs1057519265
Map	rs1057519265
PheGenI	rs1057519265
Biobank	rs1057519265
1000 genomes	rs1057519265
hgdp	rs1057519265
ensembl	rs1057519265
geneview	rs1057519265
scholar	rs1057519265
google	rs1057519265
pharmgkb	rs1057519265
gwascentral	rs1057519265
openSNP	rs1057519265
23andMe	rs1057519265
SNPshot	rs1057519265
SNPdbe	rs1057519265
MSV3d	rs1057519265
GWAS Ctlg	rs1057519265

Max Magnitude

0

ClinVar
Risk	rs1057519265(T;T)
Alt	rs1057519265(T;T)
Reference	Rs1057519265(A;A)
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.124951778T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415609.1,