rs753780877

Orientation

plus

Stabilized

plus

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

Make rs753780877(C;C)

Make rs753780877(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

63656210

Gene

HERC1

is a	snp
is	mentioned by
dbSNP	rs753780877
dbSNP (classic)	rs753780877
ClinGen	rs753780877
ebi	rs753780877
HLI	rs753780877
Exac	rs753780877
Gnomad	rs753780877
Varsome	rs753780877
LitVar	rs753780877
Map	rs753780877
PheGenI	rs753780877
Biobank	rs753780877
1000 genomes	rs753780877
hgdp	rs753780877
ensembl	rs753780877
geneview	rs753780877
scholar	rs753780877
google	rs753780877
pharmgkb	rs753780877
gwascentral	rs753780877
openSNP	rs753780877
23andMe	rs753780877
SNPshot	rs753780877
SNPdbe	rs753780877
MSV3d	rs753780877
GWAS Ctlg	rs753780877

Max Magnitude

0

ClinVar
Risk	rs753780877(A;A) rs753780877(C;C)
Alt	rs753780877(A;A) rs753780877(C;C)
Reference	Rs753780877(G;G)
Significance	Pathogenic
Disease	Megalencephaly with thick corpus callosum Macrocephaly
Variation	info
Gene	HERC1
CLNDBN	Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability Macrocephaly, dysmorphic facies, and psychomotor retardation
Reversed	0
HGVS	NC_000015.9:g.63948409G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186608.2, RCV000235006.2,