rs387907053

Orientation

minus

Stabilized

minus

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

Make rs387907053(A;A)

Make rs387907053(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

124924890

Gene	HEPACAM, LOC107984406

is a	snp
is	mentioned by
dbSNP	rs387907053
dbSNP (classic)	rs387907053
ClinGen	rs387907053
ebi	rs387907053
HLI	rs387907053
Exac	rs387907053
Gnomad	rs387907053
Varsome	rs387907053
LitVar	rs387907053
Map	rs387907053
PheGenI	rs387907053
Biobank	rs387907053
1000 genomes	rs387907053
hgdp	rs387907053
ensembl	rs387907053
geneview	rs387907053
scholar	rs387907053
google	rs387907053
pharmgkb	rs387907053
gwascentral	rs387907053
openSNP	rs387907053
23andMe	rs387907053
SNPshot	rs387907053
SNPdbe	rs387907053
MSV3d	rs387907053
GWAS Ctlg	rs387907053

Max Magnitude

0

ClinVar
Risk	rs387907053(A;A)
Alt	rs387907053(A;A)
Reference	Rs387907053(G;G)
Significance	Pathogenic
Disease	Megalencephalic leukoencephalopathy with subcortical cysts 2b Megalencephalic leukoencephalopathy with subcortical cysts 2a not provided
Variation	info
Gene	HEPACAM
CLNDBN	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2a not provided
Reversed	1
HGVS	NC_000011.9:g.124794786C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023907.3, RCV000055996.1, RCV000390259.1,