rs119485093

Orientation

plus

Stabilized

plus

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

Make rs119485093(A;A)

Make rs119485093(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

81315156

Gene

GAN

is a	snp
is	mentioned by
dbSNP	rs119485093
dbSNP (classic)	rs119485093
ClinGen	rs119485093
ebi	rs119485093
HLI	rs119485093
Exac	rs119485093
Gnomad	rs119485093
Varsome	rs119485093
LitVar	rs119485093
Map	rs119485093
PheGenI	rs119485093
Biobank	rs119485093
1000 genomes	rs119485093
hgdp	rs119485093
ensembl	rs119485093
geneview	rs119485093
scholar	rs119485093
google	rs119485093
pharmgkb	rs119485093
gwascentral	rs119485093
openSNP	rs119485093
23andMe	rs119485093
SNPshot	rs119485093
SNPdbe	rs119485093
MSV3d	rs119485093
GWAS Ctlg	rs119485093

Max Magnitude

0

OMIM	605379
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119485093(A;A)
Alt	rs119485093(A;A)
Reference	Rs119485093(C;C)
Significance	Pathogenic
Disease	Giant axonal neuropathy
Variation	info
Gene	GAN
CLNDBN	Giant axonal neuropathy
Reversed	0
HGVS	NC_000016.9:g.81348761C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005339.3,