Variant location (GRCh37)
chr11:5246862
- Variant class : SNV
- Alleles : C/T
- Existing ID : rs33949486&CM024482&HbVar.548
- Quality score : 1395.68
- Filter : PASS
Annotations
| Consequence |
Impact |
Gene |
HGVSg |
HGVSc |
HGVSp |
cDNA position |
CDS position |
Protein position |
Codons |
Amino acids |
SIFT score |
PolyPhen score |
| missense_variant |
MODERATE |
HBB |
chr11:g.5246862C>T |
NM_000518.4:c.410G>A |
NP_000509.1:p.Gly137Asp |
460/626 |
410/444 |
137/147 |
gGt/gAt |
G/D |
tolerated(0.5) |
possibly_damaging(0.865) |
Allele frequencies
| Subpopulation |
Allele count |
Allele number |
Allele frequency |
| Group A |
0 |
228 |
T:0.000e+00 |
| Group B |
0 |
170 |
T:0.000e+00 |
| Group C |
0 |
588 |
T:0.000e+00 |
| Group D |
1 |
872 |
T:0.001 |
| Group E |
0 |
198 |
T:0.000e+00 |
| Group X |
0 |
128 |
T:0.000e+00 |
| All Thais |
1 |
2184 |
T:0.000 |
Other Population frequencies from gnomAD
Site Quality Metrics
| Metric |
|
| BaseQRankSum |
-2.472 |
| ClippingRankSum |
0.000 |
| DP |
39201 |
| FS |
0.000 |
| InbreedingCoeff |
-0.001 |
| MQ |
60.000 |
| MQRankSum
|
0.000 |
| QD |
10.340 |
| ReadPosRankSum |
-1.132 |
SiteQuality |
1395.68 |
| SOR |
0.674 |
| VQSLOD
|
6.320 |