rs118203978

Orientation

minus

Stabilized

minus

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

Make rs118203978(A;G)

Make rs118203978(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

127943829

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs118203978
dbSNP (classic)	rs118203978
ClinGen	rs118203978
ebi	rs118203978
HLI	rs118203978
Exac	rs118203978
Gnomad	rs118203978
Varsome	rs118203978
LitVar	rs118203978
Map	rs118203978
PheGenI	rs118203978
Biobank	rs118203978
1000 genomes	rs118203978
hgdp	rs118203978
ensembl	rs118203978
geneview	rs118203978
scholar	rs118203978
google	rs118203978
pharmgkb	rs118203978
gwascentral	rs118203978
openSNP	rs118203978
23andMe	rs118203978
SNPshot	rs118203978
SNPdbe	rs118203978
MSV3d	rs118203978
GWAS Ctlg	rs118203978

Max Magnitude

0

OMIM	611124
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118203978(C;C) rs118203978(G;G)
Alt	rs118203978(C;C) rs118203978(G;G)
Reference	Rs118203978(A;A)
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.128864984T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001059.3, RCV000188166.2,