rs137852739
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852739(C;G) |
Make rs137852739(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 16477736 |
Gene | FAM134B |
is a | snp |
is | mentioned by |
dbSNP | rs137852739 |
dbSNP (classic) | rs137852739 |
ClinGen | rs137852739 |
ebi | rs137852739 |
HLI | rs137852739 |
Exac | rs137852739 |
Gnomad | rs137852739 |
Varsome | rs137852739 |
LitVar | rs137852739 |
Map | rs137852739 |
PheGenI | rs137852739 |
Biobank | rs137852739 |
1000 genomes | rs137852739 |
hgdp | rs137852739 |
ensembl | rs137852739 |
geneview | rs137852739 |
scholar | rs137852739 |
rs137852739 | |
pharmgkb | rs137852739 |
gwascentral | rs137852739 |
openSNP | rs137852739 |
23andMe | rs137852739 |
SNPshot | rs137852739 |
SNPdbe | rs137852739 |
MSV3d | rs137852739 |
GWAS Ctlg | rs137852739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852739(G;G) rs137852739(T;T) |
Alt | rs137852739(G;G) rs137852739(T;T) |
Reference | Rs137852739(C;C) |
Significance | Pathogenic |
Disease | Hereditary sensory and autonomic neuropathy type IIB Hereditary sensory and autonomic neuropathy type IIA not provided |
Variation | info |
Gene | FAM134B |
CLNDBN | Hereditary sensory and autonomic neuropathy type IIB Hereditary sensory and autonomic neuropathy type IIA not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.16477845G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000356.3, RCV000020422.1, RCV000235652.1, |