rs118203977

Orientation

minus

Stabilized

minus

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

Make rs118203977(G;G)

Make rs118203977(G;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

127930787

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs118203977
dbSNP (classic)	rs118203977
ClinGen	rs118203977
ebi	rs118203977
HLI	rs118203977
Exac	rs118203977
Gnomad	rs118203977
Varsome	rs118203977
LitVar	rs118203977
Map	rs118203977
PheGenI	rs118203977
Biobank	rs118203977
1000 genomes	rs118203977
hgdp	rs118203977
ensembl	rs118203977
geneview	rs118203977
scholar	rs118203977
google	rs118203977
pharmgkb	rs118203977
gwascentral	rs118203977
openSNP	rs118203977
23andMe	rs118203977
SNPshot	rs118203977
SNPdbe	rs118203977
MSV3d	rs118203977
GWAS Ctlg	rs118203977

Max Magnitude

0

OMIM	611124
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118203977(C;C) rs118203977(G;G)
Alt	rs118203977(C;C) rs118203977(G;G)
Reference	Rs118203977(T;T)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7
Reversed	1
HGVS	NC_000004.11:g.128851942A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001058.3,