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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.

rs4986819

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:24459152 (GRCh38.p13) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.124995 (33085/264690, TOPMED)
C=0.097232 (23208/238688, GnomAD_exome)
C=0.130936 (18341/140076, GnomAD) (+ 18 more)
C=0.100654 (11919/118416, ExAC)
C=0.11835 (3308/27952, ALFA)
C=0.00638 (107/16760, 8.3KJPN)
C=0.13852 (1801/13002, GO-ESP)
C=0.0988 (495/5008, 1000G)
C=0.1259 (564/4480, Estonian)
C=0.1321 (509/3854, ALSPAC)
C=0.1200 (445/3708, TWINSUK)
C=0.0116 (34/2930, KOREAN)
C=0.0131 (24/1832, Korea1K)
C=0.109 (109/998, GoNL)
C=0.130 (78/600, NorthernSweden)
C=0.107 (57/534, MGP)
C=0.125 (27/216, Qatari)
C=0.032 (7/216, Vietnamese)
G=0.468 (58/124, SGDP_PRJ)
C=0.17 (7/40, GENOME_DK)
G=0.45 (9/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP4 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 13 NC_000013.11:g.24459152G>C
GRCh37.p13 chr 13 NC_000013.10:g.25033290G>C
Gene: PARP4, poly(ADP-ribose) polymerase family member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP4 transcript NM_006437.4:c.2346-30C>G N/A Intron Variant
PARP4 transcript variant X1 XM_011534931.1:c.2487-30C…

XM_011534931.1:c.2487-30C>G

N/A Intron Variant
PARP4 transcript variant X2 XM_011534932.2:c.2346-30C…

XM_011534932.2:c.2346-30C>G

N/A Intron Variant
PARP4 transcript variant X3 XR_941496.1:n. N/A Intron 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 27952 G=0.88165 C=0.11835
European Sub 20398 G=0.88391 C=0.11609
African Sub 3554 G=0.8323 C=0.1677
African Others Sub 122 G=0.820 C=0.180
African American Sub 3432 G=0.8328 C=0.1672
Asian Sub 168 G=0.964 C=0.036
East Asian Sub 112 G=0.964 C=0.036
Other Asian Sub 56 G=0.96 C=0.04
Latin American 1 Sub 146 G=0.849 C=0.151
Latin American 2 Sub 610 G=0.944 C=0.056
South Asian Sub 98 G=0.93 C=0.07
Other Sub 2978 G=0.9077 C=0.0923


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=0.875005 C=0.124995
gnomAD - Exomes Global Study-wide 238688 G=0.902768 C=0.097232
gnomAD - Exomes European Sub 131474 G=0.883627 C=0.116373
gnomAD - Exomes Asian Sub 45194 G=0.95024 C=0.04976
gnomAD - Exomes American Sub 30812 G=0.94716 C=0.05284
gnomAD - Exomes African Sub 15684 G=0.81644 C=0.18356
gnomAD - Exomes Ashkenazi Jewish Sub 9642 G=0.9457 C=0.0543
gnomAD - Exomes Other Sub 5882 G=0.8932 C=0.1068
gnomAD - Genomes Global Study-wide 140076 G=0.869064 C=0.130936
gnomAD - Genomes European Sub 75854 G=0.88078 C=0.11922
gnomAD - Genomes African Sub 41970 G=0.81899 C=0.18101
gnomAD - Genomes American Sub 13646 G=0.91074 C=0.08926
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9458 C=0.0542
gnomAD - Genomes East Asian Sub 3132 G=0.9796 C=0.0204
gnomAD - Genomes Other Sub 2150 G=0.8888 C=0.1112
ExAC Global Study-wide 118416 G=0.899346 C=0.100654
ExAC Europe Sub 71560 G=0.88719 C=0.11281
ExAC Asian Sub 24656 G=0.94829 C=0.05171
ExAC American Sub 11374 G=0.94901 C=0.05099
ExAC African Sub 9938 G=0.8081 C=0.1919
ExAC Other Sub 888 G=0.905 C=0.095
8.3KJPN JAPANESE Study-wide 16760 G=0.99362 C=0.00638
GO Exome Sequencing Project Global Study-wide 13002 G=0.86148 C=0.13852
GO Exome Sequencing Project European American Sub 8600 G=0.8845 C=0.1155
GO Exome Sequencing Project African American Sub 4402 G=0.8164 C=0.1836
1000Genomes Global Study-wide 5008 G=0.9012 C=0.0988
1000Genomes African Sub 1322 G=0.8003 C=0.1997
1000Genomes East Asian Sub 1008 G=0.9683 C=0.0317
1000Genomes Europe Sub 1006 G=0.9056 C=0.0944
1000Genomes South Asian Sub 978 G=0.946 C=0.054
1000Genomes American Sub 694 G=0.927 C=0.073
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8741 C=0.1259
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8679 C=0.1321
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8800 C=0.1200
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9884 C=0.0116
Korean Genome Project KOREAN Study-wide 1832 G=0.9869 C=0.0131
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.891 C=0.109
Northern Sweden ACPOP Study-wide 600 G=0.870 C=0.130
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.893 C=0.107
Qatari Global Study-wide 216 G=0.875 C=0.125
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.968 C=0.032
SGDP_PRJ Global Study-wide 124 G=0.468 C=0.532
The Danish reference pan genome Danish Study-wide 40 G=0.82 C=0.17
Siberian Global Study-wide 20 G=0.45 C=0.55
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= C
GRCh38.p13 chr 13 NC_000013.11:g.24459152= NC_000013.11:g.24459152G>C
GRCh37.p13 chr 13 NC_000013.10:g.25033290= NC_000013.10:g.25033290G>C
PARP4 transcript NM_006437.3:c.2346-30= NM_006437.3:c.2346-30C>G
PARP4 transcript NM_006437.4:c.2346-30= NM_006437.4:c.2346-30C>G
PARP4 transcript variant X1 XM_011534931.1:c.2487-30= XM_011534931.1:c.2487-30C>G
PARP4 transcript variant X2 XM_011534932.2:c.2346-30= XM_011534932.2:c.2346-30C>G
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#.

58 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586213 Mar 31, 2003 (113)
2 SC_SNP ss13303780 Dec 05, 2003 (119)
3 PERLEGEN ss23434463 Sep 20, 2004 (123)
4 1000GENOMES ss112617757 Jan 25, 2009 (130)
5 1000GENOMES ss114418772 Jan 25, 2009 (130)
6 COMPLETE_GENOMICS ss168972316 Jul 04, 2010 (132)
7 BUSHMAN ss198973424 Jul 04, 2010 (132)
8 1000GENOMES ss226080378 Jul 14, 2010 (132)
9 1000GENOMES ss236176669 Jul 15, 2010 (132)
10 GMI ss286668405 Apr 25, 2013 (138)
11 1000GENOMES ss491056949 May 04, 2012 (137)
12 ILLUMINA ss532971941 Sep 08, 2015 (146)
13 TISHKOFF ss563550316 Apr 25, 2013 (138)
14 SSMP ss659144298 Apr 25, 2013 (138)
15 NHLBI-ESP ss713142247 Apr 25, 2013 (138)
16 EVA-GONL ss990193029 Aug 21, 2014 (142)
17 JMKIDD_LAB ss1078937867 Aug 21, 2014 (142)
18 1000GENOMES ss1347495624 Aug 21, 2014 (142)
19 EVA_GENOME_DK ss1576672817 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1629890269 Apr 01, 2015 (144)
21 EVA_DECODE ss1642298486 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1672884302 Apr 01, 2015 (144)
23 EVA_EXAC ss1691227701 Apr 01, 2015 (144)
24 EVA_MGP ss1711352393 Apr 01, 2015 (144)
25 HAMMER_LAB ss1807525994 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1933561395 Feb 12, 2016 (147)
27 JJLAB ss2027535096 Sep 14, 2016 (149)
28 USC_VALOUEV ss2155898951 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2194862426 Dec 20, 2016 (150)
30 TOPMED ss2358951040 Dec 20, 2016 (150)
31 GNOMAD ss2740317791 Nov 08, 2017 (151)
32 GNOMAD ss2749018801 Nov 08, 2017 (151)
33 GNOMAD ss2917600799 Nov 08, 2017 (151)
34 SWEGEN ss3010721455 Nov 08, 2017 (151)
35 BIOINF_KMB_FNS_UNIBA ss3027582318 Nov 08, 2017 (151)
36 TOPMED ss3188000439 Nov 08, 2017 (151)
37 CSHL ss3350365097 Nov 08, 2017 (151)
38 ILLUMINA ss3627021896 Oct 12, 2018 (152)
39 OMUKHERJEE_ADBS ss3646451583 Oct 12, 2018 (152)
40 EGCUT_WGS ss3677985757 Jul 13, 2019 (153)
41 EVA_DECODE ss3694926053 Jul 13, 2019 (153)
42 ACPOP ss3739582499 Jul 13, 2019 (153)
43 EVA ss3751236043 Jul 13, 2019 (153)
44 PACBIO ss3787404020 Jul 13, 2019 (153)
45 PACBIO ss3792477941 Jul 13, 2019 (153)
46 PACBIO ss3797361648 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3816567034 Jul 13, 2019 (153)
48 EVA ss3824796679 Apr 27, 2020 (154)
49 EVA ss3833448306 Apr 27, 2020 (154)
50 EVA ss3840299980 Apr 27, 2020 (154)
51 EVA ss3845784450 Apr 27, 2020 (154)
52 SGDP_PRJ ss3879593617 Apr 27, 2020 (154)
53 KRGDB ss3928410553 Apr 27, 2020 (154)
54 KOGIC ss3973207713 Apr 27, 2020 (154)
55 FSA-LAB ss3984043727 Apr 26, 2021 (155)
56 EVA ss3986596679 Apr 26, 2021 (155)
57 TOPMED ss4939954328 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5209178051 Apr 26, 2021 (155)
59 1000Genomes NC_000013.10 - 25033290 Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25033290 Oct 12, 2018 (152)
61 Genetic variation in the Estonian population NC_000013.10 - 25033290 Oct 12, 2018 (152)
62 ExAC NC_000013.10 - 25033290 Oct 12, 2018 (152)
63 The Danish reference pan genome NC_000013.10 - 25033290 Apr 27, 2020 (154)
64 gnomAD - Genomes NC_000013.11 - 24459152 Apr 26, 2021 (155)
65 gnomAD - Exomes NC_000013.10 - 25033290 Jul 13, 2019 (153)
66 GO Exome Sequencing Project NC_000013.10 - 25033290 Oct 12, 2018 (152)
67 Genome of the Netherlands Release 5 NC_000013.10 - 25033290 Apr 27, 2020 (154)
68 KOREAN population from KRGDB NC_000013.10 - 25033290 Apr 27, 2020 (154)
69 Korean Genome Project NC_000013.11 - 24459152 Apr 27, 2020 (154)
70 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25033290 Apr 27, 2020 (154)
71 Northern Sweden NC_000013.10 - 25033290 Jul 13, 2019 (153)
72 Qatari NC_000013.10 - 25033290 Apr 27, 2020 (154)
73 SGDP_PRJ NC_000013.10 - 25033290 Apr 27, 2020 (154)
74 Siberian NC_000013.10 - 25033290 Apr 27, 2020 (154)
75 8.3KJPN NC_000013.10 - 25033290 Apr 26, 2021 (155)
76 TopMed NC_000013.11 - 24459152 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000013.10 - 25033290 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000013.10 - 25033290 Jul 13, 2019 (153)
79 ALFA NC_000013.11 - 24459152 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
ss112617757, ss114418772, ss168972316, ss198973424, ss286668405, ss1642298486 NC_000013.9:23931289:G:C NC_000013.11:24459151:G:C (self)
60339051, 33509715, 23724005, 1551334, 3220131, 9559229, 1254072, 14950579, 35587947, 468153, 12867364, 15603325, 31610597, 8415305, 67147358, 33509715, 7433171, ss226080378, ss236176669, ss491056949, ss532971941, ss563550316, ss659144298, ss713142247, ss990193029, ss1078937867, ss1347495624, ss1576672817, ss1629890269, ss1672884302, ss1691227701, ss1711352393, ss1807525994, ss1933561395, ss2027535096, ss2155898951, ss2358951040, ss2740317791, ss2749018801, ss2917600799, ss3010721455, ss3350365097, ss3627021896, ss3646451583, ss3677985757, ss3739582499, ss3751236043, ss3787404020, ss3792477941, ss3797361648, ss3824796679, ss3833448306, ss3840299980, ss3879593617, ss3928410553, ss3984043727, ss3986596679, ss5209178051 NC_000013.10:25033289:G:C NC_000013.11:24459151:G:C (self)
425515124, 29585714, 97235366, 155499986, 14724187741, ss2194862426, ss3027582318, ss3188000439, ss3694926053, ss3816567034, ss3845784450, ss3973207713, ss4939954328 NC_000013.11:24459151:G:C NC_000013.11:24459151:G:C (self)
ss13303780 NT_009799.12:6013289:G:C NC_000013.11:24459151:G:C (self)
ss5586213, ss23434463 NT_024524.14:6013289:G:C NC_000013.11:24459151:G:C (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 rs4986819

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.post596+ae089ad