Variant location (GRCh37)
chr11:5248159
- Variant class : SNV
- Alleles : C/A
- Existing ID : rs33971440&CS991412&CS840007&CS023208&HbVar.818
- Quality score : 4131.37
- Filter : PASS
Annotations
Consequence |
Impact |
Gene |
HGVSg |
HGVSc |
HGVSp |
cDNA position |
CDS position |
Protein position |
Codons |
Amino acids |
SIFT score |
PolyPhen score |
splice_donor_variant |
HIGH |
HBB |
chr11:g.5248159C>A |
NM_000518.4:c.92+1G>T |
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Allele frequencies
Subpopulation |
Allele count |
Allele number |
Allele frequency |
Group A |
0 |
228 |
A:0.000e+00 |
Group B |
0 |
170 |
A:0.000e+00 |
Group C |
0 |
588 |
A:0.000e+00 |
Group D |
1 |
872 |
A:0.001 |
Group E |
1 |
198 |
A:0.005 |
Group X |
1 |
128 |
A:0.008 |
All Thais |
3 |
2184 |
A:0.001 |
Other Population frequencies from gnomAD
Site Quality Metrics
Metric |
|
BaseQRankSum |
1.350 |
ClippingRankSum |
0.000 |
DP |
54634 |
FS |
0.374 |
InbreedingCoeff |
-0.001 |
MQ |
60.000 |
MQRankSum
|
0.000 |
QD |
10.680 |
ReadPosRankSum |
-0.006 |
SiteQuality |
4131.37 |
SOR |
0.726 |
VQSLOD
|
6.300 |