rs118203976

Orientation

minus

Stabilized

minus

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

Make rs118203976(A;A)

Make rs118203976(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

127921588

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs118203976
dbSNP (classic)	rs118203976
ClinGen	rs118203976
ebi	rs118203976
HLI	rs118203976
Exac	rs118203976
Gnomad	rs118203976
Varsome	rs118203976
LitVar	rs118203976
Map	rs118203976
PheGenI	rs118203976
Biobank	rs118203976
1000 genomes	rs118203976
hgdp	rs118203976
ensembl	rs118203976
geneview	rs118203976
scholar	rs118203976
google	rs118203976
pharmgkb	rs118203976
gwascentral	rs118203976
openSNP	rs118203976
23andMe	rs118203976
SNPshot	rs118203976
SNPdbe	rs118203976
MSV3d	rs118203976
GWAS Ctlg	rs118203976

Max Magnitude

0

OMIM	611124
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118203976(A;A)
Alt	rs118203976(A;A)
Reference	Rs118203976(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7
Reversed	1
HGVS	NC_000004.11:g.128842743C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001057.3,