rs724159970

Orientation

minus

Stabilized

minus

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

Make rs724159970(G;T)

Make rs724159970(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

127921733

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs724159970
dbSNP (classic)	rs724159970
ClinGen	rs724159970
ebi	rs724159970
HLI	rs724159970
Exac	rs724159970
Gnomad	rs724159970
Varsome	rs724159970
LitVar	rs724159970
Map	rs724159970
PheGenI	rs724159970
Biobank	rs724159970
1000 genomes	rs724159970
hgdp	rs724159970
ensembl	rs724159970
geneview	rs724159970
scholar	rs724159970
google	rs724159970
pharmgkb	rs724159970
gwascentral	rs724159970
openSNP	rs724159970
23andMe	rs724159970
SNPshot	rs724159970
SNPdbe	rs724159970
MSV3d	rs724159970
GWAS Ctlg	rs724159970

Max Magnitude

0

ClinVar
Risk	rs724159970(T;T)
Alt	rs724159970(T;T)
Reference	Rs724159970(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement not provided
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement not provided
Reversed	1
HGVS	NC_000004.11:g.128842888C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149772.4, RCV000149773.4, RCV000481423.1,