Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.

SNV:6-137332112-G-T (GRCh38)

Dataset

gnomAD v4.1.0

	Exomes	Genomes	Total
Filters	No data	Pass	Not in exomes
Allele Count	-	27817	27817
Allele Number	-	152142	152142
Allele Frequency	-	0.1828	0.1828
Grpmax Filtering AF (95% confidence)	-	0.6123 African/African American	0.6123 African/African American
Number of homozygotes	-	8165	8165

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

gnomAD
HGDP
1KG
Local Ancestry


	25662	41482	8024	0.6186
	326	2114	56	0.1542
	1228	15298	79	0.08027
	12	292	0	0.04110
	207	5184	3	0.03993
	103	4808	2	0.02142
	27	3472	0	0.007776
	252	67982	1	0.003707
	0	10598	0	0.000
	0	912	0	0.000
XX	14668	77748	4301	0.1887
XY	13149	74394	3864	0.1767
Total	27817	152142	8165	0.1828

Include:ExomesGenomes


	167	198	71	0.8434
	18	28	6	0.6429
	15	278	0	0.05396
	13	362	0	0.03591
	15	440	0	0.03409
	1	100	0	0.01000
	0	302	0	0.000
XX	55	588	16	0.09354
XY	174	1120	61	0.1554
Total	229	1708	77	0.1341

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


	960	1286	368	0.7465
	62	680	0	0.09118
	38	990	0	0.03838
	15	990	0	0.01515
	6	1022	0	0.005871
XX	540	2476	181	0.2181
XY	541	2492	187	0.2171
Total	1081	4968	368	0.2176

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

6-136558101-C-T
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 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. MTFR2
  1. ENST00000420702.6
    MANE Select transcript for MTFR2
    HGVSc
    c.869+2503G>A
  2. ENST00000451457.6
    HGVSc
    c.869+2503G>A
  3. ENST00000532958.1
    HGVSc
    c.81+2503G>A

In Silico Predictors

CADD: 6.31
SpliceAI: 0.00
Pangolin: 0.00
phyloP: -0.357

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: 6-136236000-136237000

Expected	Observed	Constraint
194.8	192	Z = 0.2 o/e = 0.99

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: 2.555e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

Metric	Genome samples
SiteQuality	2.555e+7
inbreeding_coeff	0.495
AS_FS	0
AS_MQ	59.998
AS_MQRankSum	-0.039
AS_pab_max	1
AS_QUALapprox	2.555e+7
AS_QD	21.626
AS_ReadPosRankSum	0.3
AS_SOR	0.697
AS_VarDP	6.0724
AS_VQSLOD	20.7

Read Data

Always load read data