Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11573307

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:24698569 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.059602 (15776/264690, TOPMED)
G=0.049240 (5114/103858, GnomAD)
G=0.05415 (3914/72283, ALFA) (+ 14 more)
G=0.26626 (5914/22211, 14KJPN)
G=0.26390 (3389/12842, 8.3KJPN)
G=0.0895 (430/4805, 1000G_30x)
G=0.0935 (353/3775, 1000G)
G=0.0469 (174/3708, TWINSUK)
G=0.2329 (682/2928, KOREAN)
G=0.0498 (144/2889, ALSPAC)
G=0.1070 (223/2084, HGDP_Stanford)
G=0.0884 (142/1606, HapMap)
A=0.233 (27/116, SGDP_PRJ)
G=0.019 (2/108, Qatari)
G=0.03 (1/40, GENOME_DK)
G=0.0 (0/10, Ancient Sardinia)
A=0.0 (0/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
POLA1 : Intron 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 72283 A=0.94585 G=0.05415
European Sub 59391 A=0.94954 G=0.05046
African Sub 4671 A=0.9895 G=0.0105
African Others Sub 180 A=1.000 G=0.000
African American Sub 4491 A=0.9891 G=0.0109
Asian Sub 202 A=0.856 G=0.144
East Asian Sub 160 A=0.850 G=0.150
Other Asian Sub 42 A=0.88 G=0.12
Latin American 1 Sub 266 A=0.947 G=0.053
Latin American 2 Sub 1310 A=0.8359 G=0.1641
South Asian Sub 4972 A=0.8978 G=0.1022
Other Sub 1471 A=0.9307 G=0.0693


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 A=0.940398 G=0.059602
gnomAD - Genomes Global Study-wide 103858 A=0.950760 G=0.049240
gnomAD - Genomes European Sub 56940 A=0.94882 G=0.05118
gnomAD - Genomes African Sub 31370 A=0.98961 G=0.01039
gnomAD - Genomes American Sub 9257 A=0.8716 G=0.1284
gnomAD - Genomes Ashkenazi Jewish Sub 2520 A=0.9440 G=0.0560
gnomAD - Genomes East Asian Sub 2209 A=0.8040 G=0.1960
gnomAD - Genomes Other Sub 1562 A=0.9289 G=0.0711
Allele Frequency Aggregator Total Global 72283 A=0.94585 G=0.05415
Allele Frequency Aggregator European Sub 59391 A=0.94954 G=0.05046
Allele Frequency Aggregator South Asian Sub 4972 A=0.8978 G=0.1022
Allele Frequency Aggregator African Sub 4671 A=0.9895 G=0.0105
Allele Frequency Aggregator Other Sub 1471 A=0.9307 G=0.0693
Allele Frequency Aggregator Latin American 2 Sub 1310 A=0.8359 G=0.1641
Allele Frequency Aggregator Latin American 1 Sub 266 A=0.947 G=0.053
Allele Frequency Aggregator Asian Sub 202 A=0.856 G=0.144
14KJPN JAPANESE Study-wide 22211 A=0.73374 G=0.26626
8.3KJPN JAPANESE Study-wide 12842 A=0.73610 G=0.26390
1000Genomes_30x Global Study-wide 4805 A=0.9105 G=0.0895
1000Genomes_30x African Sub 1328 A=0.9970 G=0.0030
1000Genomes_30x Europe Sub 961 A=0.947 G=0.053
1000Genomes_30x South Asian Sub 883 A=0.881 G=0.119
1000Genomes_30x East Asian Sub 878 A=0.814 G=0.186
1000Genomes_30x American Sub 755 A=0.858 G=0.142
1000Genomes Global Study-wide 3775 A=0.9065 G=0.0935
1000Genomes African Sub 1003 A=0.9970 G=0.0030
1000Genomes Europe Sub 766 A=0.952 G=0.048
1000Genomes East Asian Sub 764 A=0.806 G=0.194
1000Genomes South Asian Sub 718 A=0.882 G=0.118
1000Genomes American Sub 524 A=0.847 G=0.153
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9531 G=0.0469
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.7671 G=0.2329, T=0.0000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.9502 G=0.0498
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.8930 G=0.1070
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.800 G=0.200
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.959 G=0.041
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.937 G=0.063
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.953 G=0.047
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.736 G=0.264
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.75 G=0.25
HapMap Global Study-wide 1606 A=0.9116 G=0.0884
HapMap American Sub 770 A=0.910 G=0.090
HapMap African Sub 406 A=0.998 G=0.002
HapMap Asian Sub 254 A=0.760 G=0.240
HapMap Europe Sub 176 A=0.938 G=0.062
SGDP_PRJ Global Study-wide 116 A=0.233 G=0.767
Qatari Global Study-wide 108 A=0.981 G=0.019
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 10 A=1.0 G=0.0
Siberian Global Study-wide 4 A=0.0 G=1.0
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 X NC_000023.11:g.24698569A>G
GRCh38.p14 chr X NC_000023.11:g.24698569A>T
GRCh37.p13 chr X NC_000023.10:g.24716686A>G
GRCh37.p13 chr X NC_000023.10:g.24716686A>T
POLA1 RefSeqGene NG_016798.2:g.9623A>G
POLA1 RefSeqGene NG_016798.2:g.9623A>T
Gene: POLA1, DNA polymerase alpha 1, catalytic subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
POLA1 transcript variant 1 NM_001330360.2:c.44-856A>G N/A Intron Variant
POLA1 transcript variant 3 NM_001378303.1:c.44-856A>G N/A Intron Variant
POLA1 transcript variant 2 NM_016937.4:c.26-856A>G N/A Intron Variant
POLA1 transcript variant 4 NR_165482.1:n. N/A Intron Variant
POLA1 transcript variant 5 NR_165483.1:n. N/A Intron Variant
POLA1 transcript variant X4 XM_011545540.4:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X9 XM_011545541.3:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X1 XM_017029594.3:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X2 XM_017029595.3:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X3 XM_017029596.2:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X8 XM_024452392.2:c.44-856A>G N/A Intron Variant
POLA1 transcript variant X5 XM_047442180.1:c.26-856A>G N/A Intron Variant
POLA1 transcript variant X10 XM_047442183.1:c.26-856A>G N/A Intron Variant
POLA1 transcript variant X6 XM_047442181.1:c. N/A Genic Upstream Transcript Variant
POLA1 transcript variant X7 XM_047442182.1:c. N/A Genic Upstream Transcript 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 A= G T
GRCh38.p14 chr X NC_000023.11:g.24698569= NC_000023.11:g.24698569A>G NC_000023.11:g.24698569A>T
GRCh37.p13 chr X NC_000023.10:g.24716686= NC_000023.10:g.24716686A>G NC_000023.10:g.24716686A>T
POLA1 RefSeqGene NG_016798.2:g.9623= NG_016798.2:g.9623A>G NG_016798.2:g.9623A>T
POLA1 transcript variant 1 NM_001330360.2:c.44-856= NM_001330360.2:c.44-856A>G NM_001330360.2:c.44-856A>T
POLA1 transcript variant 3 NM_001378303.1:c.44-856= NM_001378303.1:c.44-856A>G NM_001378303.1:c.44-856A>T
POLA1 transcript variant 2 NM_016937.3:c.26-856= NM_016937.3:c.26-856A>G NM_016937.3:c.26-856A>T
POLA1 transcript variant 2 NM_016937.4:c.26-856= NM_016937.4:c.26-856A>G NM_016937.4:c.26-856A>T
POLA1 transcript variant X1 XM_005274552.1:c.44-856= XM_005274552.1:c.44-856A>G XM_005274552.1:c.44-856A>T
POLA1 transcript variant X4 XM_011545540.4:c.44-856= XM_011545540.4:c.44-856A>G XM_011545540.4:c.44-856A>T
POLA1 transcript variant X9 XM_011545541.3:c.44-856= XM_011545541.3:c.44-856A>G XM_011545541.3:c.44-856A>T
POLA1 transcript variant X1 XM_017029594.3:c.44-856= XM_017029594.3:c.44-856A>G XM_017029594.3:c.44-856A>T
POLA1 transcript variant X2 XM_017029595.3:c.44-856= XM_017029595.3:c.44-856A>G XM_017029595.3:c.44-856A>T
POLA1 transcript variant X3 XM_017029596.2:c.44-856= XM_017029596.2:c.44-856A>G XM_017029596.2:c.44-856A>T
POLA1 transcript variant X8 XM_024452392.2:c.44-856= XM_024452392.2:c.44-856A>G XM_024452392.2:c.44-856A>T
POLA1 transcript variant X5 XM_047442180.1:c.26-856= XM_047442180.1:c.26-856A>G XM_047442180.1:c.26-856A>T
POLA1 transcript variant X10 XM_047442183.1:c.26-856= XM_047442183.1:c.26-856A>G XM_047442183.1:c.26-856A>T
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#.

67 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss16358144 Feb 28, 2004 (120)
2 ILLUMINA ss66733078 Nov 29, 2006 (127)
3 EGP_SNPS ss66858199 Nov 29, 2006 (127)
4 ILLUMINA ss66931877 Nov 29, 2006 (127)
5 ILLUMINA ss67091718 Nov 29, 2006 (127)
6 PERLEGEN ss69259336 May 16, 2007 (127)
7 ILLUMINA ss70394593 May 16, 2007 (127)
8 ILLUMINA ss70529874 May 25, 2008 (130)
9 ILLUMINA ss71060394 May 16, 2007 (127)
10 ILLUMINA ss75718629 Dec 07, 2007 (129)
11 KRIBB_YJKIM ss85099474 Dec 15, 2007 (130)
12 ILLUMINA ss121475567 Dec 01, 2009 (131)
13 ILLUMINA ss152994572 Dec 01, 2009 (131)
14 ILLUMINA ss159176360 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss163064727 Jul 04, 2010 (132)
16 ILLUMINA ss169873788 Jul 04, 2010 (132)
17 ILLUMINA ss171300018 Jul 04, 2010 (132)
18 GMI ss283713595 May 04, 2012 (137)
19 1000GENOMES ss341368495 May 09, 2011 (134)
20 ILLUMINA ss482734723 May 04, 2012 (137)
21 ILLUMINA ss484358914 May 04, 2012 (137)
22 ILLUMINA ss536699099 Sep 08, 2015 (146)
23 SSMP ss662733788 Apr 25, 2013 (138)
24 ILLUMINA ss780060905 Sep 08, 2015 (146)
25 ILLUMINA ss781859976 Sep 08, 2015 (146)
26 ILLUMINA ss825363988 Apr 01, 2015 (144)
27 ILLUMINA ss832688879 Jul 13, 2019 (153)
28 ILLUMINA ss835542297 Sep 08, 2015 (146)
29 JMKIDD_LAB ss1082835086 Aug 21, 2014 (142)
30 1000GENOMES ss1553825646 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1583349580 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1640481231 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1683475264 Apr 01, 2015 (144)
34 WEILL_CORNELL_DGM ss1939213193 Feb 12, 2016 (147)
35 GENOMED ss1971354589 Jul 19, 2016 (147)
36 USC_VALOUEV ss2158984631 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2316263390 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2629677863 Nov 08, 2017 (151)
39 ILLUMINA ss2634946605 Nov 08, 2017 (151)
40 GRF ss2710111296 Nov 08, 2017 (151)
41 GNOMAD ss2977283483 Nov 08, 2017 (151)
42 SWEGEN ss3019744714 Nov 08, 2017 (151)
43 CSHL ss3352918246 Nov 08, 2017 (151)
44 ILLUMINA ss3630409572 Oct 12, 2018 (152)
45 ILLUMINA ss3632833481 Oct 12, 2018 (152)
46 ILLUMINA ss3638850862 Oct 12, 2018 (152)
47 ILLUMINA ss3639429598 Oct 12, 2018 (152)
48 ILLUMINA ss3639749576 Oct 12, 2018 (152)
49 ILLUMINA ss3642726984 Oct 12, 2018 (152)
50 ILLUMINA ss3643775385 Oct 12, 2018 (152)
51 BIOINF_KMB_FNS_UNIBA ss3646186827 Oct 12, 2018 (152)
52 EVA ss3770001904 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3822844260 Jul 13, 2019 (153)
54 HGDP ss3847969824 Apr 27, 2020 (154)
55 SGDP_PRJ ss3891145713 Apr 27, 2020 (154)
56 KRGDB ss3941511163 Apr 27, 2020 (154)
57 EVA ss3985934197 Apr 26, 2021 (155)
58 TOPMED ss5117975998 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5233854944 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5312055740 Oct 16, 2022 (156)
61 EVA ss5316076545 Oct 16, 2022 (156)
62 HUGCELL_USP ss5503775880 Oct 16, 2022 (156)
63 1000G_HIGH_COVERAGE ss5620016769 Oct 16, 2022 (156)
64 SANFORD_IMAGENETICS ss5664994133 Oct 16, 2022 (156)
65 TOMMO_GENOMICS ss5795380022 Oct 16, 2022 (156)
66 YY_MCH ss5818940446 Oct 16, 2022 (156)
67 EVA ss5977968907 Oct 16, 2022 (156)
68 1000Genomes NC_000023.10 - 24716686 Oct 12, 2018 (152)
69 1000Genomes_30x NC_000023.11 - 24698569 Oct 16, 2022 (156)
70 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 24716686 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000023.10 - 24716686 Apr 27, 2020 (154)
72 gnomAD - Genomes NC_000023.11 - 24698569 Apr 26, 2021 (155)
73 HGDP-CEPH-db Supplement 1 NC_000023.9 - 24626607 Apr 27, 2020 (154)
74 HapMap NC_000023.11 - 24698569 Apr 27, 2020 (154)
75 KOREAN population from KRGDB NC_000023.10 - 24716686 Apr 27, 2020 (154)
76 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000023.10 - 24716686 Apr 26, 2021 (155)
77 Qatari NC_000023.10 - 24716686 Apr 27, 2020 (154)
78 SGDP_PRJ NC_000023.10 - 24716686 Apr 27, 2020 (154)
79 Siberian NC_000023.10 - 24716686 Apr 27, 2020 (154)
80 8.3KJPN NC_000023.10 - 24716686 Apr 26, 2021 (155)
81 14KJPN NC_000023.11 - 24698569 Oct 16, 2022 (156)
82 TopMed NC_000023.11 - 24698569 Apr 26, 2021 (155)
83 UK 10K study - Twins NC_000023.10 - 24716686 Oct 12, 2018 (152)
84 ALFA NC_000023.11 - 24698569 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).

Associated ID History Updated (Build)
rs60092753 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639429598, ss3639749576 NC_000023.8:24476342:A:G NC_000023.11:24698568:A:G (self)
647716, ss163064727, ss283713595, ss484358914, ss825363988, ss3643775385, ss3847969824 NC_000023.9:24626606:A:G NC_000023.11:24698568:A:G (self)
81806412, 45185246, 9514517, 48688557, 1160124, 21255115, 43162693, 11500985, 91824251, 45185246, ss341368495, ss482734723, ss536699099, ss662733788, ss780060905, ss781859976, ss832688879, ss835542297, ss1082835086, ss1553825646, ss1583349580, ss1640481231, ss1683475264, ss1939213193, ss1971354589, ss2158984631, ss2629677863, ss2634946605, ss2710111296, ss2977283483, ss3019744714, ss3352918246, ss3630409572, ss3632833481, ss3638850862, ss3642726984, ss3770001904, ss3891145713, ss3941511163, ss3985934197, ss5233854944, ss5316076545, ss5664994133, ss5977968907 NC_000023.10:24716685:A:G NC_000023.11:24698568:A:G (self)
107542704, 577067748, 3959980, 129217126, 681582355, 6084443013, ss2316263390, ss3646186827, ss3822844260, ss5117975998, ss5312055740, ss5503775880, ss5620016769, ss5795380022, ss5818940446 NC_000023.11:24698568:A:G NC_000023.11:24698568:A:G (self)
ss16358144, ss66733078, ss66858199, ss66931877, ss67091718, ss69259336, ss70394593, ss70529874, ss71060394, ss75718629, ss85099474, ss121475567, ss152994572, ss159176360, ss169873788, ss171300018 NT_167197.1:22598447:A:G NC_000023.11:24698568:A:G (self)
48688557, ss3941511163 NC_000023.10:24716685:A:T NC_000023.11:24698568:A:T (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 rs11573307

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