rs387907051

Orientation

minus

Stabilized

minus

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

Make rs387907051(A;A)

Make rs387907051(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

124923807

Gene	HEPACAM, LOC107984406

is a	snp
is	mentioned by
dbSNP	rs387907051
dbSNP (classic)	rs387907051
ClinGen	rs387907051
ebi	rs387907051
HLI	rs387907051
Exac	rs387907051
Gnomad	rs387907051
Varsome	rs387907051
LitVar	rs387907051
Map	rs387907051
PheGenI	rs387907051
Biobank	rs387907051
1000 genomes	rs387907051
hgdp	rs387907051
ensembl	rs387907051
geneview	rs387907051
scholar	rs387907051
google	rs387907051
pharmgkb	rs387907051
gwascentral	rs387907051
openSNP	rs387907051
23andMe	rs387907051
SNPshot	rs387907051
SNPdbe	rs387907051
MSV3d	rs387907051
GWAS Ctlg	rs387907051

Max Magnitude

0

ClinVar
Risk	rs387907051(A;A)
Alt	rs387907051(A;A)
Reference	Rs387907051(G;G)
Significance	Pathogenic
Disease	Megalencephalic leukoencephalopathy with subcortical cysts 2a
Variation	info
Gene	HEPACAM
CLNDBN	Megalencephalic leukoencephalopathy with subcortical cysts 2a
Reversed	1
HGVS	NC_000011.9:g.124793703C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023905.2,