rs727502800

Orientation

minus

Stabilized

minus

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

Make rs727502800(C;C)

Make rs727502800(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

127921860

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs727502800
dbSNP (classic)	rs727502800
ClinGen	rs727502800
ebi	rs727502800
HLI	rs727502800
Exac	rs727502800
Gnomad	rs727502800
Varsome	rs727502800
LitVar	rs727502800
Map	rs727502800
PheGenI	rs727502800
Biobank	rs727502800
1000 genomes	rs727502800
hgdp	rs727502800
ensembl	rs727502800
geneview	rs727502800
scholar	rs727502800
google	rs727502800
pharmgkb	rs727502800
gwascentral	rs727502800
openSNP	rs727502800
23andMe	rs727502800
SNPshot	rs727502800
SNPdbe	rs727502800
MSV3d	rs727502800
GWAS Ctlg	rs727502800

Max Magnitude

0

ClinVar
Risk	rs727502800(C;C)
Alt	rs727502800(C;C)
Reference	Rs727502800(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement
Reversed	1
HGVS	NC_000004.11:g.128843015C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149774.4, RCV000149775.4,