rs104894709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894709(A;T) |
Make rs104894709(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 19197545 |
Gene | RFXANK |
is a | snp |
is | mentioned by |
dbSNP | rs104894709 |
dbSNP (classic) | rs104894709 |
ClinGen | rs104894709 |
ebi | rs104894709 |
HLI | rs104894709 |
Exac | rs104894709 |
Gnomad | rs104894709 |
Varsome | rs104894709 |
LitVar | rs104894709 |
Map | rs104894709 |
PheGenI | rs104894709 |
Biobank | rs104894709 |
1000 genomes | rs104894709 |
hgdp | rs104894709 |
ensembl | rs104894709 |
geneview | rs104894709 |
scholar | rs104894709 |
rs104894709 | |
pharmgkb | rs104894709 |
gwascentral | rs104894709 |
openSNP | rs104894709 |
23andMe | rs104894709 |
SNPshot | rs104894709 |
SNPdbe | rs104894709 |
MSV3d | rs104894709 |
GWAS Ctlg | rs104894709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894709(T;T) |
Alt | rs104894709(T;T) |
Reference | Rs104894709(A;A) |
Significance | Pathogenic |
Disease | Bare lymphocyte syndrome |
Variation | info |
Gene | RFXANK |
CLNDBN | Bare lymphocyte syndrome, type II, complementation group b |
Reversed | 0 |
HGVS | NC_000019.9:g.19308354A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006979.2, |