rs724159971

Orientation

minus

Stabilized

minus

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

Make rs724159971(C;T)

Make rs724159971(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

127920743

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs724159971
dbSNP (classic)	rs724159971
ClinGen	rs724159971
ebi	rs724159971
HLI	rs724159971
Exac	rs724159971
Gnomad	rs724159971
Varsome	rs724159971
LitVar	rs724159971
Map	rs724159971
PheGenI	rs724159971
Biobank	rs724159971
1000 genomes	rs724159971
hgdp	rs724159971
ensembl	rs724159971
geneview	rs724159971
scholar	rs724159971
google	rs724159971
pharmgkb	rs724159971
gwascentral	rs724159971
openSNP	rs724159971
23andMe	rs724159971
SNPshot	rs724159971
SNPdbe	rs724159971
MSV3d	rs724159971
GWAS Ctlg	rs724159971

Max Magnitude

0

ClinVar
Risk	rs724159971(T;T)
Alt	rs724159971(T;T)
Reference	Rs724159971(C;C)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7 not provided
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7 not provided
Reversed	1
HGVS	NC_000004.11:g.128841898G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149777.4, RCV000256110.1,