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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.

rs1050110

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:24435347 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.393615 (104186/264690, TOPMED)
G=0.367173 (92198/251102, GnomAD_exome)
G=0.403504 (56451/139902, GnomAD) (+ 20 more)
G=0.369634 (44847/121328, ExAC)
G=0.37541 (18491/49256, ALFA)
G=0.29385 (4925/16760, 8.3KJPN)
G=0.40750 (5300/13006, GO-ESP)
G=0.3864 (1935/5008, 1000G)
G=0.3581 (1380/3854, ALSPAC)
G=0.3722 (1380/3708, TWINSUK)
G=0.2935 (860/2930, KOREAN)
G=0.2915 (534/1832, Korea1K)
G=0.380 (379/998, GoNL)
C=0.490 (301/614, Vietnamese)
G=0.390 (234/600, NorthernSweden)
G=0.333 (178/534, MGP)
C=0.355 (118/332, SGDP_PRJ)
G=0.434 (139/320, HapMap)
G=0.401 (122/304, FINRISK)
G=0.356 (77/216, Qatari)
G=0.42 (17/40, GENOME_DK)
G=0.27 (8/30, Ancient Sardinia)
C=0.32 (7/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP4 : Missense 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.24435347C>G
GRCh37.p13 chr 13 NC_000013.10:g.25009485C>G
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.3794G>C G [GGC] > A [GCC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Gly1265Ala G (Gly) > A (Ala) Missense Variant
PARP4 transcript variant X1 XM_011534931.1:c.3935G>C G [GGC] > A [GCC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Gly1312A…

XP_011533233.1:p.Gly1312Ala

G (Gly) > A (Ala) Missense Variant
PARP4 transcript variant X2 XM_011534932.2:c.3794G>C G [GGC] > A [GCC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Gly1265A…

XP_011533234.1:p.Gly1265Ala

G (Gly) > A (Ala) Missense Variant
PARP4 transcript variant X3 XR_941496.1:n.3950G>C N/A Non Coding 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

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 49256 C=0.62459 G=0.37541
European Sub 37244 C=0.62969 G=0.37031
African Sub 3560 C=0.5331 G=0.4669
African Others Sub 122 C=0.467 G=0.533
African American Sub 3438 C=0.5355 G=0.4645
Asian Sub 168 C=0.625 G=0.375
East Asian Sub 112 C=0.616 G=0.384
Other Asian Sub 56 C=0.64 G=0.36
Latin American 1 Sub 500 C=0.626 G=0.374
Latin American 2 Sub 628 C=0.678 G=0.322
South Asian Sub 98 C=0.72 G=0.28
Other Sub 7058 C=0.6376 G=0.3624


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 C=0.606385 G=0.393615
gnomAD - Exomes Global Study-wide 251102 C=0.632827 G=0.367173
gnomAD - Exomes European Sub 135186 C=0.616625 G=0.383375
gnomAD - Exomes Asian Sub 48954 C=0.67804 G=0.32196
gnomAD - Exomes American Sub 34532 C=0.68224 G=0.31776
gnomAD - Exomes African Sub 16242 C=0.53189 G=0.46811
gnomAD - Exomes Ashkenazi Jewish Sub 10068 C=0.62793 G=0.37207
gnomAD - Exomes Other Sub 6120 C=0.6261 G=0.3739
gnomAD - Genomes Global Study-wide 139902 C=0.596496 G=0.403504
gnomAD - Genomes European Sub 75776 C=0.62065 G=0.37935
gnomAD - Genomes African Sub 41914 C=0.53417 G=0.46583
gnomAD - Genomes American Sub 13632 C=0.63527 G=0.36473
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=0.6227 G=0.3773
gnomAD - Genomes East Asian Sub 3124 C=0.6405 G=0.3595
gnomAD - Genomes Other Sub 2140 C=0.6103 G=0.3897
ExAC Global Study-wide 121328 C=0.630366 G=0.369634
ExAC Europe Sub 73308 C=0.61711 G=0.38289
ExAC Asian Sub 25148 C=0.68164 G=0.31836
ExAC American Sub 11576 C=0.69834 G=0.30166
ExAC African Sub 10390 C=0.52454 G=0.47546
ExAC Other Sub 906 C=0.625 G=0.375
8.3KJPN JAPANESE Study-wide 16760 C=0.70615 G=0.29385
GO Exome Sequencing Project Global Study-wide 13006 C=0.59250 G=0.40750
GO Exome Sequencing Project European American Sub 8600 C=0.6274 G=0.3726
GO Exome Sequencing Project African American Sub 4406 C=0.5243 G=0.4757
1000Genomes Global Study-wide 5008 C=0.6136 G=0.3864
1000Genomes African Sub 1322 C=0.5144 G=0.4856
1000Genomes East Asian Sub 1008 C=0.6399 G=0.3601
1000Genomes Europe Sub 1006 C=0.5825 G=0.4175
1000Genomes South Asian Sub 978 C=0.725 G=0.275
1000Genomes American Sub 694 C=0.653 G=0.347
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6419 G=0.3581
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6278 G=0.3722
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7065 G=0.2935
Korean Genome Project KOREAN Study-wide 1832 C=0.7085 G=0.2915
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.620 G=0.380
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.490 G=0.510
Northern Sweden ACPOP Study-wide 600 C=0.610 G=0.390
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.667 G=0.333
SGDP_PRJ Global Study-wide 332 C=0.355 G=0.645
HapMap Global Study-wide 320 C=0.566 G=0.434
HapMap American Sub 120 C=0.533 G=0.467
HapMap African Sub 114 C=0.509 G=0.491
HapMap Asian Sub 86 C=0.69 G=0.31
FINRISK Finnish from FINRISK project Study-wide 304 C=0.599 G=0.401
Qatari Global Study-wide 216 C=0.644 G=0.356
The Danish reference pan genome Danish Study-wide 40 C=0.57 G=0.42
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 30 C=0.73 G=0.27
Siberian Global Study-wide 22 C=0.32 G=0.68
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 C= G
GRCh38.p13 chr 13 NC_000013.11:g.24435347= NC_000013.11:g.24435347C>G
GRCh37.p13 chr 13 NC_000013.10:g.25009485= NC_000013.10:g.25009485C>G
PARP4 transcript NM_006437.4:c.3794= NM_006437.4:c.3794G>C
PARP4 transcript NM_006437.3:c.3794= NM_006437.3:c.3794G>C
PARP4 transcript variant X2 XM_011534932.2:c.3794= XM_011534932.2:c.3794G>C
PARP4 transcript variant X3 XR_941496.1:n.3950= XR_941496.1:n.3950G>C
PARP4 transcript variant X1 XM_011534931.1:c.3935= XM_011534931.1:c.3935G>C
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Gly1265= NP_006428.2:p.Gly1265Ala
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Gly1265= XP_011533234.1:p.Gly1265Ala
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Gly1312= XP_011533233.1:p.Gly1312Ala
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#.

82 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1524436 Oct 05, 2000 (86)
2 HGBASE ss2422798 Nov 14, 2000 (89)
3 LEE ss4415327 May 29, 2002 (106)
4 YUSUKE ss4928179 Aug 28, 2002 (108)
5 SNP500CANCER ss5586211 Mar 31, 2003 (113)
6 WI_SSAHASNP ss12262413 Jul 11, 2003 (116)
7 ABI ss40298079 Mar 15, 2006 (126)
8 CORNELL ss86272101 Mar 23, 2008 (129)
9 BCMHGSC_JDW ss89535420 Mar 24, 2008 (129)
10 ILLUMINA-UK ss118388961 Feb 14, 2009 (130)
11 ENSEMBL ss133485246 Dec 01, 2009 (131)
12 GMI ss154535312 Dec 01, 2009 (131)
13 SEATTLESEQ ss159727867 Dec 01, 2009 (131)
14 ILLUMINA ss159903577 Dec 01, 2009 (131)
15 ENSEMBL ss161582248 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss167713958 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss168970424 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss170881941 Jul 04, 2010 (132)
19 BUSHMAN ss198972778 Jul 04, 2010 (132)
20 1000GENOMES ss226080192 Jul 14, 2010 (132)
21 1000GENOMES ss236176503 Jul 15, 2010 (132)
22 1000GENOMES ss242687260 Jul 15, 2010 (132)
23 GMI ss281639166 May 04, 2012 (137)
24 GMI ss286668264 Apr 25, 2013 (138)
25 PJP ss291557328 May 09, 2011 (134)
26 NHLBI-ESP ss342373176 May 09, 2011 (134)
27 ILLUMINA ss479680190 Sep 08, 2015 (146)
28 1000GENOMES ss491056903 May 04, 2012 (137)
29 EXOME_CHIP ss491477105 May 04, 2012 (137)
30 CLINSEQ_SNP ss491677205 May 04, 2012 (137)
31 TISHKOFF ss563550112 Apr 25, 2013 (138)
32 SSMP ss659144061 Apr 25, 2013 (138)
33 JMKIDD_LAB ss974486220 Aug 21, 2014 (142)
34 EVA-GONL ss990192726 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1078937674 Aug 21, 2014 (142)
36 1000GENOMES ss1347494799 Aug 21, 2014 (142)
37 DDI ss1427128214 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1576672659 Apr 01, 2015 (144)
39 EVA_FINRISK ss1584086113 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1629889897 Apr 01, 2015 (144)
41 EVA_DECODE ss1642298210 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1672883930 Apr 01, 2015 (144)
43 EVA_EXAC ss1691227174 Apr 01, 2015 (144)
44 EVA_MGP ss1711352324 Apr 01, 2015 (144)
45 HAMMER_LAB ss1807525807 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1933561058 Feb 12, 2016 (147)
47 GENOMED ss1967734436 Jul 19, 2016 (147)
48 JJLAB ss2027534942 Sep 14, 2016 (149)
49 USC_VALOUEV ss2155898751 Dec 20, 2016 (150)
50 TOPMED ss2358949562 Dec 20, 2016 (150)
51 GRF ss2700270214 Nov 08, 2017 (151)
52 GNOMAD ss2740317055 Nov 08, 2017 (151)
53 GNOMAD ss2749018538 Nov 08, 2017 (151)
54 GNOMAD ss2917598477 Nov 08, 2017 (151)
55 AFFY ss2984998913 Nov 08, 2017 (151)
56 SWEGEN ss3010720974 Nov 08, 2017 (151)
57 EVA_SAMSUNG_MC ss3023068183 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3027582199 Nov 08, 2017 (151)
59 TOPMED ss3187995630 Nov 08, 2017 (151)
60 CSHL ss3350364907 Nov 08, 2017 (151)
61 ILLUMINA ss3636222149 Oct 12, 2018 (152)
62 OMUKHERJEE_ADBS ss3646451544 Oct 12, 2018 (152)
63 ILLUMINA ss3653769265 Oct 12, 2018 (152)
64 EVA_DECODE ss3694925559 Jul 13, 2019 (153)
65 ACPOP ss3739582244 Jul 13, 2019 (153)
66 EVA ss3751235738 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3816566691 Jul 13, 2019 (153)
68 EVA ss3824796546 Apr 27, 2020 (154)
69 EVA ss3825529012 Apr 27, 2020 (154)
70 EVA ss3825544168 Apr 27, 2020 (154)
71 EVA ss3825834013 Apr 27, 2020 (154)
72 EVA ss3833448122 Apr 27, 2020 (154)
73 SGDP_PRJ ss3879593056 Apr 27, 2020 (154)
74 KRGDB ss3928409972 Apr 27, 2020 (154)
75 KOGIC ss3973207238 Apr 27, 2020 (154)
76 FSA-LAB ss3984043666 Apr 26, 2021 (155)
77 EVA ss3985628806 Apr 26, 2021 (155)
78 EVA ss3986062089 Apr 26, 2021 (155)
79 EVA ss3986596588 Apr 26, 2021 (155)
80 TOPMED ss4939948415 Apr 26, 2021 (155)
81 TOMMO_GENOMICS ss5209177019 Apr 26, 2021 (155)
82 EVA ss5236911762 Apr 26, 2021 (155)
83 1000Genomes NC_000013.10 - 25009485 Oct 12, 2018 (152)
84 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25009485 Oct 12, 2018 (152)
85 ExAC NC_000013.10 - 25009485 Oct 12, 2018 (152)
86 FINRISK NC_000013.10 - 25009485 Apr 27, 2020 (154)
87 The Danish reference pan genome NC_000013.10 - 25009485 Apr 27, 2020 (154)
88 gnomAD - Genomes NC_000013.11 - 24435347 Apr 26, 2021 (155)
89 gnomAD - Exomes NC_000013.10 - 25009485 Jul 13, 2019 (153)
90 GO Exome Sequencing Project NC_000013.10 - 25009485 Oct 12, 2018 (152)
91 Genome of the Netherlands Release 5 NC_000013.10 - 25009485 Apr 27, 2020 (154)
92 HapMap NC_000013.11 - 24435347 Apr 27, 2020 (154)
93 KOREAN population from KRGDB NC_000013.10 - 25009485 Apr 27, 2020 (154)
94 Korean Genome Project NC_000013.11 - 24435347 Apr 27, 2020 (154)
95 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25009485 Apr 27, 2020 (154)
96 Northern Sweden NC_000013.10 - 25009485 Jul 13, 2019 (153)
97 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 25009485 Apr 26, 2021 (155)
98 Qatari NC_000013.10 - 25009485 Apr 27, 2020 (154)
99 SGDP_PRJ NC_000013.10 - 25009485 Apr 27, 2020 (154)
100 Siberian NC_000013.10 - 25009485 Apr 27, 2020 (154)
101 8.3KJPN NC_000013.10 - 25009485 Apr 26, 2021 (155)
102 TopMed NC_000013.11 - 24435347 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000013.10 - 25009485 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000013.10 - 25009485 Jul 13, 2019 (153)
105 ALFA NC_000013.11 - 24435347 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)
rs3190393 Jul 03, 2002 (106)
rs3742173 Oct 09, 2002 (108)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss89535420, ss118388961, ss167713958, ss168970424, ss170881941, ss198972778, ss281639166, ss286668264, ss291557328, ss491677205, ss1642298210 NC_000013.9:23907484:C:G NC_000013.11:24435346:C:G (self)
60338187, 33509279, 1550763, 82574, 3220009, 9558497, 1253939, 14950280, 35587366, 468084, 12867109, 854733, 15602988, 31610036, 8415105, 67146326, 33509279, 7433050, ss226080192, ss236176503, ss242687260, ss342373176, ss479680190, ss491056903, ss491477105, ss563550112, ss659144061, ss974486220, ss990192726, ss1078937674, ss1347494799, ss1427128214, ss1576672659, ss1584086113, ss1629889897, ss1672883930, ss1691227174, ss1711352324, ss1807525807, ss1933561058, ss1967734436, ss2027534942, ss2155898751, ss2358949562, ss2700270214, ss2740317055, ss2749018538, ss2917598477, ss2984998913, ss3010720974, ss3023068183, ss3350364907, ss3636222149, ss3646451544, ss3653769265, ss3739582244, ss3751235738, ss3824796546, ss3825529012, ss3825544168, ss3825834013, ss3833448122, ss3879593056, ss3928409972, ss3984043666, ss3985628806, ss3986062089, ss3986596588, ss5209177019 NC_000013.10:25009484:C:G NC_000013.11:24435346:C:G (self)
425509941, 948094, 29585239, 97231700, 155494073, 8643194340, ss3027582199, ss3187995630, ss3694925559, ss3816566691, ss3973207238, ss4939948415, ss5236911762 NC_000013.11:24435346:C:G NC_000013.11:24435346:C:G (self)
ss12262413 NT_009799.12:5989484:C:G NC_000013.11:24435346:C:G (self)
ss1524436, ss2422798, ss4415327, ss4928179, ss5586211, ss40298079, ss86272101, ss133485246, ss154535312, ss159727867, ss159903577, ss161582248 NT_024524.14:5989484:C:G NC_000013.11:24435346:C:G (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 rs1050110

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