rs1057518934

Orientation

minus

Stabilized

minus

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

Make rs1057518934(-;-)

Make rs1057518934(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

28211095

Gene

HERC2

is a	snp
is	mentioned by
dbSNP	rs1057518934
dbSNP (classic)	rs1057518934
ClinGen	rs1057518934
ebi	rs1057518934
HLI	rs1057518934
Exac	rs1057518934
Gnomad	rs1057518934
Varsome	rs1057518934
LitVar	rs1057518934
Map	rs1057518934
PheGenI	rs1057518934
Biobank	rs1057518934
1000 genomes	rs1057518934
hgdp	rs1057518934
ensembl	rs1057518934
geneview	rs1057518934
scholar	rs1057518934
google	rs1057518934
pharmgkb	rs1057518934
gwascentral	rs1057518934
openSNP	rs1057518934
23andMe	rs1057518934
SNPshot	rs1057518934
SNPdbe	rs1057518934
MSV3d	rs1057518934
GWAS Ctlg	rs1057518934

Max Magnitude

0

ClinVar
Risk	rs1057518934(-;-)
Alt	rs1057518934(-;-)
Reference	Rs1057518934(C;C)
Significance	Pathogenic
Disease	Aplasia/Hypoplasia of the cerebellum Global brain atrophy Hypoplasia of the corpus callosum Intellectual disability Motor delay Neonatal hypotonia Optic nerve hypoplasia Paraparesis
Variation	info
Gene	HERC2
CLNDBN	Aplasia/Hypoplasia of the cerebellum Global brain atrophy Hypoplasia of the corpus callosum Intellectual disability, severe Motor delay Neonatal hypotonia Optic nerve hypoplasia Paraparesis
Reversed	1
HGVS	NC_000015.9:g.28456241delG
CLNSRC
CLNACC	RCV000414953.1,