rs61734651
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs61734651(C;T) |
Make rs61734651(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 62819980 |
Gene | COL9A3 |
is a | snp |
is | mentioned by |
dbSNP | rs61734651 |
dbSNP (classic) | rs61734651 |
ClinGen | rs61734651 |
ebi | rs61734651 |
HLI | rs61734651 |
Exac | rs61734651 |
Gnomad | rs61734651 |
Varsome | rs61734651 |
LitVar | rs61734651 |
Map | rs61734651 |
PheGenI | rs61734651 |
Biobank | rs61734651 |
1000 genomes | rs61734651 |
hgdp | rs61734651 |
ensembl | rs61734651 |
geneview | rs61734651 |
scholar | rs61734651 |
rs61734651 | |
pharmgkb | rs61734651 |
gwascentral | rs61734651 |
openSNP | rs61734651 |
23andMe | rs61734651 |
SNPshot | rs61734651 |
SNPdbe | rs61734651 |
MSV3d | rs61734651 |
GWAS Ctlg | rs61734651 |
GMAF | 0.03076 |
Max Magnitude | 0 |
rs61734651, most commonly known as the Trp3 allele yet technically also known as c.307C>T, p.Arg103Trp and R103W, represents a variant in the COL9A3 gene on chromosome 20.
Several studies, albeit older ones and relatively small ones, have linked the rs61734651(T) allele to somewhat higher risk (odds ratio of ~3) to lumbar disc disease. However, more recent entries to ClinVar all evaluate this variant as benign, although without supplying their reasoning for so doing.
ClinVar | |
---|---|
Risk | rs61734651(T;T) |
Alt | rs61734651(T;T) |
Reference | Rs61734651(C;C) |
Significance | Other |
Disease | Intervertebral disc disease not specified Multiple Epiphyseal Dysplasia |
Variation | info |
Gene | COL9A3 |
CLNDBN | Intervertebral disc disease, susceptibility to not specified Multiple Epiphyseal Dysplasia, Dominant |
Reversed | 0 |
HGVS | NC_000020.10:g.61451332C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018677.3, RCV000178853.2, RCV000261594.1, |