rs794729648

Orientation

minus

Stabilized

minus

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

Make rs794729648(-;-)

Make rs794729648(-;AG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

244855471

Gene	HNRNPU, SNORA100

is a	snp
is	mentioned by
dbSNP	rs794729648
dbSNP (classic)	rs794729648
ClinGen	rs794729648
ebi	rs794729648
HLI	rs794729648
Exac	rs794729648
Gnomad	rs794729648
Varsome	rs794729648
LitVar	rs794729648
Map	rs794729648
PheGenI	rs794729648
Biobank	rs794729648
1000 genomes	rs794729648
hgdp	rs794729648
ensembl	rs794729648
geneview	rs794729648
scholar	rs794729648
google	rs794729648
pharmgkb	rs794729648
gwascentral	rs794729648
openSNP	rs794729648
23andMe	rs794729648
SNPshot	rs794729648
SNPdbe	rs794729648
MSV3d	rs794729648
GWAS Ctlg	rs794729648

Max Magnitude

0

ClinVar
Risk	rs794729648(-;-)
Alt	rs794729648(-;-)
Reference	Rs794729648(AG;AG)
Significance	Pathogenic
Disease	Intellectual disability and seizures
Variation	info
Gene	SNORA100 HNRNPU
CLNDBN	Intellectual disability and seizures
Reversed	1
HGVS	NC_000001.10:g.245018773_245018774delCT
CLNSRC
CLNACC	RCV000185558.2,