Name: rs4986819
Published: September 21, 2022
License: Open Access

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 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:24459152 (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>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) (+ 20 more)
C=0.100654 (11919/118416, ExAC)
C=0.00598 (169/28258, 14KJPN)
C=0.11835 (3308/27952, ALFA)
C=0.00638 (107/16760, 8.3KJPN)
C=0.13852 (1801/13002, GO-ESP)
C=0.0985 (631/6404, 1000G_30x)
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

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	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

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").

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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
14KJPN	JAPANESE	Study-wide	28258	G=0.99402	C=0.00598
Allele Frequency Aggregator	Total	Global	27952	G=0.88165	C=0.11835
Allele Frequency Aggregator	European	Sub	20398	G=0.88391	C=0.11609
Allele Frequency Aggregator	African	Sub	3554	G=0.8323	C=0.1677
Allele Frequency Aggregator	Other	Sub	2978	G=0.9077	C=0.0923
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.944	C=0.056
Allele Frequency Aggregator	Asian	Sub	168	G=0.964	C=0.036
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.849	C=0.151
Allele Frequency Aggregator	South Asian	Sub	98	G=0.93	C=0.07
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_30x	Global	Study-wide	6404	G=0.9015	C=0.0985
1000Genomes_30x	African	Sub	1786	G=0.8085	C=0.1915
1000Genomes_30x	Europe	Sub	1266	G=0.9092	C=0.0908
1000Genomes_30x	South Asian	Sub	1202	G=0.9476	C=0.0524
1000Genomes_30x	East Asian	Sub	1170	G=0.9667	C=0.0333
1000Genomes_30x	American	Sub	980	G=0.927	C=0.073
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

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 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_011534932.3:c.2346-30C… XM_011534932.3:c.2346-30C>G	N/A	Intron Variant
PARP4 transcript variant X2	XM_047430097.1:c.2346-30C… XM_047430097.1:c.2346-30C>G	N/A	Intron Variant

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

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.p14 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_011534932.3:c.2346-30=	XM_011534932.3:c.2346-30C>G
PARP4 transcript variant X2	XM_047430097.1:c.2346-30=	XM_047430097.1:c.2346-30C>G

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#.

69 SubSNP, 23 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	GNOMAD	ss2740317791	Nov 08, 2017 (151)
31	GNOMAD	ss2749018801	Nov 08, 2017 (151)
32	GNOMAD	ss2917600799	Nov 08, 2017 (151)
33	SWEGEN	ss3010721455	Nov 08, 2017 (151)
34	BIOINF_KMB_FNS_UNIBA	ss3027582318	Nov 08, 2017 (151)
35	CSHL	ss3350365097	Nov 08, 2017 (151)
36	ILLUMINA	ss3627021896	Oct 12, 2018 (152)
37	OMUKHERJEE_ADBS	ss3646451583	Oct 12, 2018 (152)
38	EGCUT_WGS	ss3677985757	Jul 13, 2019 (153)
39	EVA_DECODE	ss3694926053	Jul 13, 2019 (153)
40	ACPOP	ss3739582499	Jul 13, 2019 (153)
41	EVA	ss3751236043	Jul 13, 2019 (153)
42	PACBIO	ss3787404020	Jul 13, 2019 (153)
43	PACBIO	ss3792477941	Jul 13, 2019 (153)
44	PACBIO	ss3797361648	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3816567034	Jul 13, 2019 (153)
46	EVA	ss3824796679	Apr 27, 2020 (154)
47	EVA	ss3833448306	Apr 27, 2020 (154)
48	EVA	ss3840299980	Apr 27, 2020 (154)
49	EVA	ss3845784450	Apr 27, 2020 (154)
50	SGDP_PRJ	ss3879593617	Apr 27, 2020 (154)
51	KRGDB	ss3928410553	Apr 27, 2020 (154)
52	KOGIC	ss3973207713	Apr 27, 2020 (154)
53	FSA-LAB	ss3984043727	Apr 26, 2021 (155)
54	EVA	ss3986596679	Apr 26, 2021 (155)
55	TOPMED	ss4939954328	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5209178051	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5293097275	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5487524478	Oct 16, 2022 (156)
59	EVA	ss5510907620	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5591732395	Oct 16, 2022 (156)
61	EVA	ss5623960077	Oct 16, 2022 (156)
62	EVA	ss5624039367	Oct 16, 2022 (156)
63	SANFORD_IMAGENETICS	ss5654401833	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5760820016	Oct 16, 2022 (156)
65	YY_MCH	ss5813950006	Oct 16, 2022 (156)
66	EVA	ss5839222031	Oct 16, 2022 (156)
67	EVA	ss5848369797	Oct 16, 2022 (156)
68	EVA	ss5924371385	Oct 16, 2022 (156)
69	EVA	ss5945806784	Oct 16, 2022 (156)
70	1000Genomes	NC_000013.10 - 25033290	Oct 12, 2018 (152)
71	1000Genomes_30x	NC_000013.11 - 24459152	Oct 16, 2022 (156)
72	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 25033290	Oct 12, 2018 (152)
73	Genetic variation in the Estonian population	NC_000013.10 - 25033290	Oct 12, 2018 (152)
74	ExAC	NC_000013.10 - 25033290	Oct 12, 2018 (152)
75	The Danish reference pan genome	NC_000013.10 - 25033290	Apr 27, 2020 (154)
76	gnomAD - Genomes	NC_000013.11 - 24459152	Apr 26, 2021 (155)
77	gnomAD - Exomes	NC_000013.10 - 25033290	Jul 13, 2019 (153)
78	GO Exome Sequencing Project	NC_000013.10 - 25033290	Oct 12, 2018 (152)
79	Genome of the Netherlands Release 5	NC_000013.10 - 25033290	Apr 27, 2020 (154)
80	KOREAN population from KRGDB	NC_000013.10 - 25033290	Apr 27, 2020 (154)
81	Korean Genome Project	NC_000013.11 - 24459152	Apr 27, 2020 (154)
82	Medical Genome Project healthy controls from Spanish population	NC_000013.10 - 25033290	Apr 27, 2020 (154)
83	Northern Sweden	NC_000013.10 - 25033290	Jul 13, 2019 (153)
84	Qatari	NC_000013.10 - 25033290	Apr 27, 2020 (154)
85	SGDP_PRJ	NC_000013.10 - 25033290	Apr 27, 2020 (154)
86	Siberian	NC_000013.10 - 25033290	Apr 27, 2020 (154)
87	8.3KJPN	NC_000013.10 - 25033290	Apr 26, 2021 (155)
88	14KJPN	NC_000013.11 - 24459152	Oct 16, 2022 (156)
89	TopMed	NC_000013.11 - 24459152	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000013.10 - 25033290	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000013.10 - 25033290	Jul 13, 2019 (153)
92	ALFA	NC_000013.11 - 24459152	Apr 26, 2021 (155)

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, ss2740317791, ss2749018801, ss2917600799, ss3010721455, ss3350365097, ss3627021896, ss3646451583, ss3677985757, ss3739582499, ss3751236043, ss3787404020, ss3792477941, ss3797361648, ss3824796679, ss3833448306, ss3840299980, ss3879593617, ss3928410553, ss3984043727, ss3986596679, ss5209178051, ss5510907620, ss5623960077, ss5624039367, ss5654401833, ss5839222031, ss5848369797, ss5945806784	NC_000013.10:25033289:G:C	NC_000013.11:24459151:G:C	(self)
79258330, 425515124, 29585714, 94657120, 155499986, 14724187741, ss2194862426, ss3027582318, ss3694926053, ss3816567034, ss3845784450, ss3973207713, ss4939954328, ss5293097275, ss5487524478, ss5591732395, ss5760820016, ss5813950006, ss5924371385	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)

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

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4986819