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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs147244726

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:4055059 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000257 (68/264690, TOPMED)
A=0.000151 (37/245154, GnomAD_exome)
A=0.000299 (42/140268, GnomAD) (+ 7 more)
A=0.000137 (16/117182, ExAC)
A=0.00049 (22/44714, ALFA)
A=0.00023 (3/13002, GO-ESP)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
A=0.0005 (2/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZBTB7A : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 44788 G=0.99951 A=0.00049
European Sub 32778 G=0.99951 A=0.00049
African Sub 3574 G=1.0000 A=0.0000
African Others Sub 122 G=1.000 A=0.000
African American Sub 3452 G=1.0000 A=0.0000
Asian Sub 168 G=1.000 A=0.000
East Asian Sub 112 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 498 G=0.998 A=0.002
Latin American 2 Sub 628 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 7044 G=0.9993 A=0.0007


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999743 A=0.000257
gnomAD - Exomes Global Study-wide 245154 G=0.999849 A=0.000151
gnomAD - Exomes European Sub 129946 G=0.999746 A=0.000254
gnomAD - Exomes Asian Sub 48814 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34448 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 15986 G=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 9938 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 6022 G=0.9997 A=0.0003
gnomAD - Genomes Global Study-wide 140268 G=0.999701 A=0.000299
gnomAD - Genomes European Sub 75950 G=0.99953 A=0.00047
gnomAD - Genomes African Sub 42056 G=0.99990 A=0.00010
gnomAD - Genomes American Sub 13658 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
ExAC Global Study-wide 117182 G=0.999863 A=0.000137
ExAC Europe Sub 70550 G=0.99979 A=0.00021
ExAC Asian Sub 24654 G=1.00000 A=0.00000
ExAC American Sub 11352 G=1.00000 A=0.00000
ExAC African Sub 9770 G=0.9999 A=0.0001
ExAC Other Sub 856 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 44714 G=0.99951 A=0.00049
Allele Frequency Aggregator European Sub 32724 G=0.99951 A=0.00049
Allele Frequency Aggregator Other Sub 7038 G=0.9993 A=0.0007
Allele Frequency Aggregator African Sub 3560 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=0.998 A=0.002
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 13002 G=0.99977 A=0.00023
GO Exome Sequencing Project European American Sub 8600 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 4402 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9998 A=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 19 NC_000019.10:g.4055059G>A
GRCh37.p13 chr 19 NC_000019.9:g.4055057G>A
Gene: ZBTB7A, zinc finger and BTB domain containing 7A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZBTB7A transcript variant 1 NM_015898.4:c.174C>T Y [TAC] > Y [TAT] Coding Sequence Variant
zinc finger and BTB domain-containing protein 7A NP_056982.1:p.Tyr58= Y (Tyr) > Y (Tyr) Synonymous Variant
ZBTB7A transcript variant 2 NM_001317990.2:c.174C>T Y [TAC] > Y [TAT] Coding Sequence Variant
zinc finger and BTB domain-containing protein 7A NP_001304919.1:p.Tyr58= Y (Tyr) > Y (Tyr) Synonymous Variant
ZBTB7A transcript variant X1 XM_005259570.6:c.324C>T Y [TAC] > Y [TAT] Coding Sequence Variant
zinc finger and BTB domain-containing protein 7A isoform X1 XP_005259627.3:p.Tyr108= Y (Tyr) > Y (Tyr) Synonymous Variant
ZBTB7A transcript variant X2 XM_005259571.5:c.174C>T Y [TAC] > Y [TAT] Coding Sequence Variant
zinc finger and BTB domain-containing protein 7A isoform X2 XP_005259628.1:p.Tyr58= Y (Tyr) > Y (Tyr) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 19 NC_000019.10:g.4055059= NC_000019.10:g.4055059G>A
GRCh37.p13 chr 19 NC_000019.9:g.4055057= NC_000019.9:g.4055057G>A
ZBTB7A transcript variant X1 XM_005259570.6:c.324= XM_005259570.6:c.324C>T
ZBTB7A transcript variant X1 XM_005259570.5:c.324= XM_005259570.5:c.324C>T
ZBTB7A transcript variant X1 XM_005259570.4:c.324= XM_005259570.4:c.324C>T
ZBTB7A transcript variant X1 XM_005259570.3:c.174= XM_005259570.3:c.174C>T
ZBTB7A transcript variant X1 XM_005259570.2:c.174= XM_005259570.2:c.174C>T
ZBTB7A transcript variant X1 XM_005259570.1:c.324= XM_005259570.1:c.324C>T
ZBTB7A transcript variant X2 XM_005259571.5:c.174= XM_005259571.5:c.174C>T
ZBTB7A transcript variant X2 XM_005259571.4:c.174= XM_005259571.4:c.174C>T
ZBTB7A transcript variant X3 XM_005259571.3:c.174= XM_005259571.3:c.174C>T
ZBTB7A transcript variant X2 XM_005259571.2:c.174= XM_005259571.2:c.174C>T
ZBTB7A transcript variant X2 XM_005259571.1:c.174= XM_005259571.1:c.174C>T
ZBTB7A transcript variant 1 NM_015898.4:c.174= NM_015898.4:c.174C>T
ZBTB7A transcript variant 1 NM_015898.3:c.174= NM_015898.3:c.174C>T
ZBTB7A transcript NM_015898.2:c.174= NM_015898.2:c.174C>T
ZBTB7A transcript variant 2 NM_001317990.2:c.174= NM_001317990.2:c.174C>T
ZBTB7A transcript variant 2 NM_001317990.1:c.174= NM_001317990.1:c.174C>T
zinc finger and BTB domain-containing protein 7A isoform X1 XP_005259627.3:p.Tyr108= XP_005259627.3:p.Tyr108=
zinc finger and BTB domain-containing protein 7A isoform X2 XP_005259628.1:p.Tyr58= XP_005259628.1:p.Tyr58=
zinc finger and BTB domain-containing protein 7A NP_056982.1:p.Tyr58= NP_056982.1:p.Tyr58=
zinc finger and BTB domain-containing protein 7A NP_001304919.1:p.Tyr58= NP_001304919.1:p.Tyr58=
zinc finger and BTB domain-containing protein 7A isoform X1 XP_005259627.1:p.Tyr108= XP_005259627.1:p.Tyr108=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

19 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342480896 May 09, 2011 (134)
2 CLINSEQ_SNP ss491754477 May 04, 2012 (137)
3 ROSENBERGLAB ss749614282 Aug 21, 2014 (142)
4 JMKIDD_LAB ss1067582053 Aug 21, 2014 (142)
5 1000GENOMES ss1362145754 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1637467005 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1680461038 Apr 01, 2015 (144)
8 EVA_EXAC ss1693271180 Apr 01, 2015 (144)
9 HUMAN_LONGEVITY ss2223873612 Dec 20, 2016 (150)
10 GNOMAD ss2743483380 Nov 08, 2017 (151)
11 GNOMAD ss2750022507 Nov 08, 2017 (151)
12 GNOMAD ss2959849737 Nov 08, 2017 (151)
13 EVA_DECODE ss3702231059 Jul 13, 2019 (153)
14 EVA ss3825218540 Apr 27, 2020 (154)
15 TOPMED ss5066284886 Apr 26, 2021 (155)
16 EVA ss5433237411 Oct 16, 2022 (156)
17 1000G_HIGH_COVERAGE ss5611617862 Oct 16, 2022 (156)
18 EVA ss5927091542 Oct 16, 2022 (156)
19 EVA ss5953296039 Oct 16, 2022 (156)
20 1000Genomes NC_000019.9 - 4055057 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000019.10 - 4055059 Oct 16, 2022 (156)
22 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 4055057 Oct 12, 2018 (152)
23 ExAC NC_000019.9 - 4055057 Oct 12, 2018 (152)
24 gnomAD - Genomes NC_000019.10 - 4055059 Apr 26, 2021 (155)
25 gnomAD - Exomes NC_000019.9 - 4055057 Jul 13, 2019 (153)
26 GO Exome Sequencing Project NC_000019.9 - 4055057 Oct 12, 2018 (152)
27 TopMed NC_000019.10 - 4055059 Apr 26, 2021 (155)
28 UK 10K study - Twins NC_000019.9 - 4055057 Oct 12, 2018 (152)
29 ALFA NC_000019.10 - 4055059 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491754477, ss749614282 NC_000019.8:4006056:G:A NC_000019.10:4055058:G:A (self)
75514949, 41850223, 3751655, 12795376, 1675540, 41850223, ss342480896, ss1067582053, ss1362145754, ss1637467005, ss1680461038, ss1693271180, ss2743483380, ss2750022507, ss2959849737, ss3825218540, ss5433237411, ss5953296039 NC_000019.9:4055056:G:A NC_000019.10:4055058:G:A (self)
99143797, 532550619, 281830550, 12396361038, ss2223873612, ss3702231059, ss5066284886, ss5611617862, ss5927091542 NC_000019.10:4055058:G:A NC_000019.10:4055058:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs147244726

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07