rs869312869

Orientation

minus

Stabilized

minus

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

Make rs869312869(C;C)

Make rs869312869(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

37635811

Gene

ZFP30

is a	snp
is	mentioned by
dbSNP	rs869312869
dbSNP (classic)	rs869312869
ClinGen	rs869312869
ebi	rs869312869
HLI	rs869312869
Exac	rs869312869
Gnomad	rs869312869
Varsome	rs869312869
LitVar	rs869312869
Map	rs869312869
PheGenI	rs869312869
Biobank	rs869312869
1000 genomes	rs869312869
hgdp	rs869312869
ensembl	rs869312869
geneview	rs869312869
scholar	rs869312869
google	rs869312869
pharmgkb	rs869312869
gwascentral	rs869312869
openSNP	rs869312869
23andMe	rs869312869
SNPshot	rs869312869
SNPdbe	rs869312869
MSV3d	rs869312869
GWAS Ctlg	rs869312869

Max Magnitude

0

ClinVar
Risk	rs869312869(C;C)
Alt	rs869312869(C;C)
Reference	Rs869312869(T;T)
Significance	Probable-Pathogenic
Disease	Cerebral visual impairment and intellectual disability
Variation	info
Gene	ZFP30
CLNDBN	Cerebral visual impairment and intellectual disability
Reversed	1
HGVS	NC_000019.9:g.38126712A>G
CLNSRC
CLNACC	RCV000210402.1,