rs140948465

Orientation

plus

Stabilized

plus

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

Make rs140948465(A;A)

Make rs140948465(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

127930800

Gene

MFSD8

is a	snp
is	mentioned by
dbSNP	rs140948465
dbSNP (classic)	rs140948465
ClinGen	rs140948465
ebi	rs140948465
HLI	rs140948465
Exac	rs140948465
Gnomad	rs140948465
Varsome	rs140948465
LitVar	rs140948465
Map	rs140948465
PheGenI	rs140948465
Biobank	rs140948465
1000 genomes	rs140948465
hgdp	rs140948465
ensembl	rs140948465
geneview	rs140948465
scholar	rs140948465
google	rs140948465
pharmgkb	rs140948465
gwascentral	rs140948465
openSNP	rs140948465
23andMe	rs140948465
SNPshot	rs140948465
SNPdbe	rs140948465
MSV3d	rs140948465
GWAS Ctlg	rs140948465

Max Magnitude

0

ClinVar
Risk	rs140948465(A;A) rs140948465(T;T)
Alt	rs140948465(A;A) rs140948465(T;T)
Reference	Rs140948465(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 7
Variation	info
Gene	MFSD8
CLNDBN	Ceroid lipofuscinosis neuronal 7
Reversed	0
HGVS	NC_000004.11:g.128851955G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001061.3,