rs727502776
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs727502776(-;ACTACTCTGTGAAGC) |
Make rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 35658027 |
Gene | CCDC107, RMRP |
is a | snp |
is | mentioned by |
dbSNP | rs727502776 |
dbSNP (classic) | rs727502776 |
ClinGen | rs727502776 |
ebi | rs727502776 |
HLI | rs727502776 |
Exac | rs727502776 |
Gnomad | rs727502776 |
Varsome | rs727502776 |
LitVar | rs727502776 |
Map | rs727502776 |
PheGenI | rs727502776 |
Biobank | rs727502776 |
1000 genomes | rs727502776 |
hgdp | rs727502776 |
ensembl | rs727502776 |
geneview | rs727502776 |
scholar | rs727502776 |
rs727502776 | |
pharmgkb | rs727502776 |
gwascentral | rs727502776 |
openSNP | rs727502776 |
23andMe | rs727502776 |
SNPshot | rs727502776 |
SNPdbe | rs727502776 |
MSV3d | rs727502776 |
GWAS Ctlg | rs727502776 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC) |
Alt | rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC) |
Reference | Rs727502776(-;-) |
Significance | Pathogenic |
Disease | Metaphyseal chondrodysplasia |
Variation | info |
Gene | CCDC107 RMRP |
CLNDBN | Metaphyseal chondrodysplasia, McKusick type |
Reversed | 1 |
HGVS | NC_000009.11:g.35658025_35658039dupGCTTCACAGAGTAGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015279.27, |