rs864309489
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864309489(-;-) |
Make rs864309489(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 83857301 |
Gene | RIPPLY2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309489 |
dbSNP (classic) | rs864309489 |
ClinGen | rs864309489 |
ebi | rs864309489 |
HLI | rs864309489 |
Exac | rs864309489 |
Gnomad | rs864309489 |
Varsome | rs864309489 |
LitVar | rs864309489 |
Map | rs864309489 |
PheGenI | rs864309489 |
Biobank | rs864309489 |
1000 genomes | rs864309489 |
hgdp | rs864309489 |
ensembl | rs864309489 |
geneview | rs864309489 |
scholar | rs864309489 |
rs864309489 | |
pharmgkb | rs864309489 |
gwascentral | rs864309489 |
openSNP | rs864309489 |
23andMe | rs864309489 |
SNPshot | rs864309489 |
SNPdbe | rs864309489 |
MSV3d | rs864309489 |
GWAS Ctlg | rs864309489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309489(-;-) |
Alt | rs864309489(-;-) |
Reference | Rs864309489(T;T) |
Significance | Probable-Pathogenic |
Disease | Klippel-Feil syndrome 2 not provided |
Variation | info |
Gene | RIPPLY2 |
CLNDBN | Klippel-Feil syndrome 2, autosomal recessive not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.84567020delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202450.1, RCV000207167.1, |