rs797046124
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797046124(-;GCCA) |
Make rs797046124(GCCA;GCCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 45953872 |
Gene | ZNF335 |
is a | snp |
is | mentioned by |
dbSNP | rs797046124 |
dbSNP (classic) | rs797046124 |
ClinGen | rs797046124 |
ebi | rs797046124 |
HLI | rs797046124 |
Exac | rs797046124 |
Gnomad | rs797046124 |
Varsome | rs797046124 |
LitVar | rs797046124 |
Map | rs797046124 |
PheGenI | rs797046124 |
Biobank | rs797046124 |
1000 genomes | rs797046124 |
hgdp | rs797046124 |
ensembl | rs797046124 |
geneview | rs797046124 |
scholar | rs797046124 |
rs797046124 | |
pharmgkb | rs797046124 |
gwascentral | rs797046124 |
openSNP | rs797046124 |
23andMe | rs797046124 |
SNPshot | rs797046124 |
SNPdbe | rs797046124 |
MSV3d | rs797046124 |
GWAS Ctlg | rs797046124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046124(GCCA;GCCA) |
Alt | rs797046124(GCCA;GCCA) |
Reference | Rs797046124(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary autosomal recessive microcephaly 10 |
Variation | info |
Gene | ZNF335 |
CLNDBN | Primary autosomal recessive microcephaly 10 |
Reversed | 1 |
HGVS | NC_000020.10:g.44582512_44582515dupTGGC |
CLNSRC | |
CLNACC | RCV000193192.1, |