rs606231234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGA;CTGA) | 0 | common in clinvar |
(GACT;GACT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs606231234(-;-) |
Make rs606231234(-;GACT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 73363247 |
Gene | KHDC3L |
is a | snp |
is | mentioned by |
dbSNP | rs606231234 |
dbSNP (classic) | rs606231234 |
ClinGen | rs606231234 |
ebi | rs606231234 |
HLI | rs606231234 |
Exac | rs606231234 |
Gnomad | rs606231234 |
Varsome | rs606231234 |
LitVar | rs606231234 |
Map | rs606231234 |
PheGenI | rs606231234 |
Biobank | rs606231234 |
1000 genomes | rs606231234 |
hgdp | rs606231234 |
ensembl | rs606231234 |
geneview | rs606231234 |
scholar | rs606231234 |
rs606231234 | |
pharmgkb | rs606231234 |
gwascentral | rs606231234 |
openSNP | rs606231234 |
23andMe | rs606231234 |
SNPshot | rs606231234 |
SNPdbe | rs606231234 |
MSV3d | rs606231234 |
GWAS Ctlg | rs606231234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231234(-;-) Rs606231234(CTGA;CTGA) |
Alt | rs606231234(-;-) Rs606231234(CTGA;CTGA) |
Reference | Rs606231234(GACT;GACT) |
Significance | Pathogenic |
Disease | Hydatidiform mole |
Variation | info |
Gene | KHDC3L |
CLNDBN | Hydatidiform mole, recurrent, 2 |
Reversed | 0 |
HGVS | NC_000006.11:g.74072970_74072973delGACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023915.3, |