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SNV:12-113298316-A-G (GRCh38)

Dataset

gnomAD v4.1.0

	Exomes	Genomes	Total
Filters	No data	Pass	Not in exomes
Allele Count	-	2	2
Allele Number	-	152320	152320
Allele Frequency	-	0.00001313	0.00001313
Grpmax Filtering AF (95% confidence)	-	0.00006825 East Asian	0.00006825 East Asian
Number of homozygotes	-	0	0

External Resources

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Genetic Ancestry Group Frequencies

gnomAD
HGDP
1KG
Local Ancestry


	2	5186	0.0003857
	0	41578	0.000
	0	15306	0.000
	0	3464	0.000
	0	10614	0.000
	0	294	0.000
	0	68020	0.000
	0	912	0.000
	0	4830	0.000
	0	2116	0.000
XX	1	77830	0.00001285
XY	1	74490	0.00001342
Total	2	152320	0.00001313

Include:ExomesGenomes


	1	990	0.001010
	0	1286	0.000
	0	680	0.000
	0	1022	0.000
	0	990	0.000
XX	1	2476	0.0004039
XY	0	2492	0.000
Total	1	4968	0.0002013

Related Variants

Nearby Variants

View variants located within 20 bases of this variant.

Variant Effect Predictor

This variant falls on 4 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

intron
1. HECTD4
  1. ENST00000682272.1
    MANE Select transcript for HECTD4
    HGVSc
    c.6971-1430T>C
  2. ENST00000377560.9
    HGVSc
    c.6965-1430T>C
  3. ENST00000550722.5
    HGVSc
    c.6569-1430T>C

In Silico Predictors

CADD: 3.38
SpliceAI: 0.00
Pangolin: 0.00
phyloP: 0.441

Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 12-112220000-112221000

Expected	Observed	Constraint
195.8	192	Z = 0.27 o/e = 0.98

Age Distribution

Exome
Genome

Variant carriers
All individuals

Include heterozygous variant carriersInclude homozygous variant carriersCompare to all individuals

Sequencing types:

Genotype Quality Metrics

Genotype quality
Depth
Allele balance for heterozygotes

Exome
Genome

Variant carriers
All individuals

Compare to all individualsSequencing types:

Site Quality Metrics

Metric distribution
All metric values

Exome
Genome

Metric: Sequencing types:

Value: 6.740e+2 (genome samples)

Site quality approximation for all doubleton variants.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

Metric	Genome samples
SiteQuality	6.740e+2
inbreeding_coeff	-1.312e-5
AS_FS	11.083
AS_MQ	60
AS_MQRankSum	0.166
AS_pab_max	1
AS_QUALapprox	6.740e+2
AS_QD	14.042
AS_ReadPosRankSum	1.23
AS_SOR	1.834
AS_VarDP	1.6812
AS_VQSLOD	5.611

Read Data

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