rs119485093
From SNPedia
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 |
rs119485093 | |
pharmgkb | rs119485093 |
gwascentral | rs119485093 |
openSNP | rs119485093 |
23andMe | rs119485093 |
SNPshot | rs119485093 |
SNPdbe | rs119485093 |
MSV3d | rs119485093 |
GWAS Ctlg | rs119485093 |
Max Magnitude | 0 |
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, |