Variant location (GRCh37)
chr11:5246870
- Variant class : SNV
- Alleles : C/T
- Existing ID : rs113082294
- Quality score : 2044.15
- Filter : PASS
Annotations
Consequence |
Impact |
Gene |
HGVSg |
HGVSc |
HGVSp |
cDNA position |
CDS position |
Protein position |
Codons |
Amino acids |
SIFT score |
PolyPhen score |
synonymous_variant |
LOW |
HBB |
chr11:g.5246870C>T |
NM_000518.4:c.402G>A |
NP_000509.1:p.Val134= |
452/626 |
402/444 |
134/147 |
gtG/gtA |
V |
|
|
Allele frequencies
Subpopulation |
Allele count |
Allele number |
Allele frequency |
Group A |
1 |
228 |
T:0.004 |
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 |
2 |
2184 |
T:0.001 |
Other Population frequencies from gnomAD
Site Quality Metrics
Metric |
|
BaseQRankSum |
3.040 |
ClippingRankSum |
0.000 |
DP |
39248 |
FS |
9.738 |
InbreedingCoeff |
0.002 |
MQ |
60.000 |
MQRankSum
|
0.000 |
QD |
10.170 |
ReadPosRankSum |
-0.109 |
SiteQuality |
2044.15 |
SOR |
1.368 |
VQSLOD
|
5.570 |