rs118203975

Orientation

minus

Stabilized

minus

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

Make rs118203975(A;A)

Make rs118203975(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

127930752

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs118203975
dbSNP (classic)	rs118203975
ClinGen	rs118203975
ebi	rs118203975
HLI	rs118203975
Exac	rs118203975
Gnomad	rs118203975
Varsome	rs118203975
LitVar	rs118203975
Map	rs118203975
PheGenI	rs118203975
Biobank	rs118203975
1000 genomes	rs118203975
hgdp	rs118203975
ensembl	rs118203975
geneview	rs118203975
scholar	rs118203975
google	rs118203975
pharmgkb	rs118203975
gwascentral	rs118203975
openSNP	rs118203975
23andMe	rs118203975
SNPshot	rs118203975
SNPdbe	rs118203975
MSV3d	rs118203975
GWAS Ctlg	rs118203975

Max Magnitude

0

OMIM	611124
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118203975(A;A)
Alt	rs118203975(A;A)
Reference	Rs118203975(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.128851907C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001056.3,