rs587778809

Orientation

minus

Stabilized

minus

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

Make rs587778809(A;A)

Make rs587778809(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

127938781

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs587778809
dbSNP (classic)	rs587778809
ClinGen	rs587778809
ebi	rs587778809
HLI	rs587778809
Exac	rs587778809
Gnomad	rs587778809
Varsome	rs587778809
LitVar	rs587778809
Map	rs587778809
PheGenI	rs587778809
Biobank	rs587778809
1000 genomes	rs587778809
hgdp	rs587778809
ensembl	rs587778809
geneview	rs587778809
scholar	rs587778809
google	rs587778809
pharmgkb	rs587778809
gwascentral	rs587778809
openSNP	rs587778809
23andMe	rs587778809
SNPshot	rs587778809
SNPdbe	rs587778809
MSV3d	rs587778809
GWAS Ctlg	rs587778809

Max Magnitude

0

ClinVar
Risk	rs587778809(A;A)
Alt	rs587778809(A;A)
Reference	Rs587778809(T;T)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis, Recessive
Reversed	1
HGVS	NC_000004.11:g.128859936A>T
CLNSRC
CLNACC	RCV000056142.1, RCV000188171.1, RCV000269722.1,