rs1057524914

Orientation

minus

Stabilized

minus

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

Make rs1057524914(AT;GA)

Make rs1057524914(GA;GA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

244854456

Gene	HNRNPU, SNORA100

is a	snp
is	mentioned by
dbSNP	rs1057524914
dbSNP (classic)	rs1057524914
ClinGen	rs1057524914
ebi	rs1057524914
HLI	rs1057524914
Exac	rs1057524914
Gnomad	rs1057524914
Varsome	rs1057524914
LitVar	rs1057524914
Map	rs1057524914
PheGenI	rs1057524914
Biobank	rs1057524914
1000 genomes	rs1057524914
hgdp	rs1057524914
ensembl	rs1057524914
geneview	rs1057524914
scholar	rs1057524914
google	rs1057524914
pharmgkb	rs1057524914
gwascentral	rs1057524914
openSNP	rs1057524914
23andMe	rs1057524914
SNPshot	rs1057524914
SNPdbe	rs1057524914
MSV3d	rs1057524914
GWAS Ctlg	rs1057524914

Max Magnitude

0

ClinVar
Risk	rs1057524914(GA;GA)
Alt	rs1057524914(GA;GA)
Reference	Rs1057524914(AT;AT)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SNORA100 HNRNPU
CLNDBN	Epileptic encephalopathy, early infantile, 54
Reversed	1
HGVS	NC_000001.10:g.245017758_245017759delATinsTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000445557.1,