rs560096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs560096(C;C) |
Make rs560096(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68911494 |
Gene | IGHMBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs560096 |
dbSNP (classic) | rs560096 |
ClinGen | rs560096 |
ebi | rs560096 |
HLI | rs560096 |
Exac | rs560096 |
Gnomad | rs560096 |
Varsome | rs560096 |
LitVar | rs560096 |
Map | rs560096 |
PheGenI | rs560096 |
Biobank | rs560096 |
1000 genomes | rs560096 |
hgdp | rs560096 |
ensembl | rs560096 |
geneview | rs560096 |
scholar | rs560096 |
rs560096 | |
pharmgkb | rs560096 |
gwascentral | rs560096 |
openSNP | rs560096 |
23andMe | rs560096 |
SNPshot | rs560096 |
SNPdbe | rs560096 |
MSV3d | rs560096 |
GWAS Ctlg | rs560096 |
GMAF | 0.2975 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs560096(C;C) |
Alt | rs560096(C;C) |
Reference | Rs560096(T;T) |
Significance | Non-pathogenic |
Disease | not specified Spinal muscular atrophy |
Variation | info |
Gene | IGHMBP2 |
CLNDBN | not specified Spinal muscular atrophy |
Reversed | 0 |
HGVS | NC_000011.9:g.68678962T>C |
CLNSRC | |
CLNACC | RCV000248264.1, RCV000324070.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 11
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d