rs730882240

Orientation

plus

Stabilized

plus

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

Make rs730882240(C;T)

Make rs730882240(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

574693

Gene

PIGQ

is a	snp
is	mentioned by
dbSNP	rs730882240
dbSNP (classic)	rs730882240
ClinGen	rs730882240
ebi	rs730882240
HLI	rs730882240
Exac	rs730882240
Gnomad	rs730882240
Varsome	rs730882240
LitVar	rs730882240
Map	rs730882240
PheGenI	rs730882240
Biobank	rs730882240
1000 genomes	rs730882240
hgdp	rs730882240
ensembl	rs730882240
geneview	rs730882240
scholar	rs730882240
google	rs730882240
pharmgkb	rs730882240
gwascentral	rs730882240
openSNP	rs730882240
23andMe	rs730882240
SNPshot	rs730882240
SNPdbe	rs730882240
MSV3d	rs730882240
GWAS Ctlg	rs730882240

Max Magnitude

0

ClinVar
Risk	rs730882240(T;T)
Alt	rs730882240(T;T)
Reference	Rs730882240(C;C)
Significance	Probable-Pathogenic
Disease	Global developmental delay Intractable seizure Optic atrophy
Variation	info
Gene	PIGQ
CLNDBN	Global developmental delay Intractable seizure Optic atrophy
Reversed	0
HGVS	NC_000016.9:g.624693C>T
CLNSRC
CLNACC	RCV000162174.1,