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SNV:6-137321050-G-A (GRCh38)

Dataset

gnomAD v4.1.0

	Exomes	Genomes	Total
Filters	No data	Pass	Not in exomes
Allele Count	-	148857	148857
Allele Number	-	151334	151334
Allele Frequency	-	0.9836	0.9836
Grpmax Filtering AF (95% confidence)	-	0.9792 African/African American	0.9792 African/African American
Number of homozygotes	-	73212	73212

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

gnomAD
HGDP
1KG
Local Ancestry


	293	294	146	0.9966
	10320	10412	5115	0.9912
	14985	15142	7414	0.9896
	3419	3460	1690	0.9882
	40742	41268	20113	0.9873
	2057	2088	1013	0.9852
	892	906	439	0.9845
	66509	67850	32596	0.9802
	4690	4786	2298	0.9799
	4950	5128	2388	0.9653
XX	76126	77464	37405	0.9827
XY	72731	73870	35807	0.9846
Total	148857	151334	73212	0.9836

Include:ExomesGenomes


	280	280	140	1.000
	100	100	50	1.000
	28	28	14	1.000
	354	362	173	0.9779
	293	302	142	0.9702
	418	432	202	0.9676
	179	190	87	0.9421
XX	578	588	285	0.9830
XY	1074	1106	523	0.9711
Total	1652	1694	808	0.9752

Warning Because of low sample sizes for HGDP populations, allele frequencies may not be representative.


	676	680	336	0.9941
	1277	1286	634	0.9930
	998	1022	487	0.9765
	961	990	467	0.9707
	951	990	457	0.9606
XX	2423	2476	1186	0.9786
XY	2440	2492	1195	0.9791
Total	4863	4968	2381	0.9789


	Overall	39657	40166	0.9873
African	32418	32766	0.9894
European	7239	7400	0.9782
Total	39657	40166	0.9873

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

6-137642187-G-A
View variant in gnomAD v2.1.1

Nearby Variants

View variants located within 20 bases of this variant.

Variant Effect Predictor

This variant falls on 0 transcripts in 0 genes.

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

In Silico Predictors

CADD: 0.166
phyloP: -2.11

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: 6-137321000-137322000

Expected	Observed	Constraint
131.3	139	Z = -0.67 o/e = 1.06

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: 1.345e+8 (genome samples)

Site quality approximation for all variants with AF >= 0.5.

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

Metric	Genome samples
SiteQuality	1.345e+8
inbreeding_coeff	0.001
AS_FS	0
AS_MQ	59.997
AS_MQRankSum	-0.044
AS_pab_max	1
AS_QUALapprox	1.345e+8
AS_QD	32.65
AS_ReadPosRankSum	0.289
AS_SOR	0.657
AS_VarDP	6.6149
AS_VQSLOD	16.725

Read Data

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