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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.

rs8019730

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr14:93744987 (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 / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.237580 (62885/264690, TOPMED)
C=0.133824 (19730/147432, ALFA)
C=0.235254 (32865/139700, GnomAD) (+ 14 more)
C=0.47643 (7985/16760, 8.3KJPN)
C=0.3438 (1722/5008, 1000G)
C=0.1717 (769/4478, Estonian)
C=0.1103 (425/3854, ALSPAC)
C=0.1001 (371/3708, TWINSUK)
C=0.4809 (1409/2930, KOREAN)
C=0.3824 (719/1880, HapMap)
C=0.089 (89/998, GoNL)
C=0.127 (76/600, NorthernSweden)
C=0.228 (108/474, SGDP_PRJ)
C=0.176 (38/216, Qatari)
T=0.406 (86/212, Vietnamese)
C=0.17 (8/48, Siberian)
C=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PRIMA1 : 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 14 NC_000014.9:g.93744987C>G
GRCh38.p13 chr 14 NC_000014.9:g.93744987C>T
PRIMA1 RefSeqGene NG_009069.1:g.48434G>C
PRIMA1 RefSeqGene NG_009069.1:g.48434G>A
GRCh38.p13 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.859549C>G
GRCh38.p13 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.859549C>T
GRCh37.p13 chr 14 NC_000014.8:g.94211333C>G
GRCh37.p13 chr 14 NC_000014.8:g.94211333C>T
Gene: PRIMA1, proline rich membrane anchor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRIMA1 transcript NM_178013.4:c.230-7617G>C N/A Intron Variant
PRIMA1 transcript variant X1 XM_011536456.2:c.230-7617…

XM_011536456.2:c.230-7617G>C

N/A Intron Variant
PRIMA1 transcript variant X3 XM_024449482.1:c.230-7617…

XM_024449482.1:c.230-7617G>C

N/A Intron Variant
PRIMA1 transcript variant X2 XR_002957532.1:n. N/A Intron Variant
PRIMA1 transcript variant X4 XR_002957533.1: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 (New)
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 147432 C=0.133824 G=0.000000, T=0.866176
European Sub 123740 C=0.112090 G=0.000000, T=0.887910
African Sub 6918 C=0.4769 G=0.0000, T=0.5231
African Others Sub 234 C=0.573 G=0.000, T=0.427
African American Sub 6684 C=0.4735 G=0.0000, T=0.5265
Asian Sub 674 C=0.509 G=0.000, T=0.491
East Asian Sub 512 C=0.500 G=0.000, T=0.500
Other Asian Sub 162 C=0.537 G=0.000, T=0.463
Latin American 1 Sub 888 C=0.181 G=0.000, T=0.819
Latin American 2 Sub 8480 C=0.1018 G=0.0000, T=0.8982
South Asian Sub 196 C=0.209 G=0.000, T=0.791
Other Sub 6536 C=0.1764 G=0.0000, T=0.8236


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=0.237580 T=0.762420
gnomAD - Genomes Global Study-wide 139700 C=0.235254 T=0.764746
gnomAD - Genomes European Sub 75680 C=0.12080 T=0.87920
gnomAD - Genomes African Sub 41794 C=0.46538 T=0.53462
gnomAD - Genomes American Sub 13642 C=0.11406 T=0.88594
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.1677 T=0.8323
gnomAD - Genomes East Asian Sub 3112 C=0.5357 T=0.4643
gnomAD - Genomes Other Sub 2150 C=0.2293 T=0.7707
8.3KJPN JAPANESE Study-wide 16760 C=0.47643 T=0.52357
1000Genomes Global Study-wide 5008 C=0.3438 T=0.6562
1000Genomes African Sub 1322 C=0.5371 T=0.4629
1000Genomes East Asian Sub 1008 C=0.5397 T=0.4603
1000Genomes Europe Sub 1006 C=0.1183 T=0.8817
1000Genomes South Asian Sub 978 C=0.271 T=0.729
1000Genomes American Sub 694 C=0.121 T=0.879
Genetic variation in the Estonian population Estonian Study-wide 4478 C=0.1717 T=0.8283
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1103 T=0.8897
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1001 T=0.8999
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4809 T=0.5191
HapMap Global Study-wide 1880 C=0.3824 T=0.6176
HapMap American Sub 768 C=0.301 T=0.699
HapMap African Sub 684 C=0.504 T=0.496
HapMap Asian Sub 252 C=0.488 T=0.512
HapMap Europe Sub 176 C=0.114 T=0.886
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.089 T=0.911
Northern Sweden ACPOP Study-wide 600 C=0.127 T=0.873
SGDP_PRJ Global Study-wide 474 C=0.228 T=0.772
Qatari Global Study-wide 216 C=0.176 T=0.824
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.594 T=0.406
Siberian Global Study-wide 48 C=0.17 T=0.83
The Danish reference pan genome Danish Study-wide 40 C=0.10 T=0.90
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 T
GRCh38.p13 chr 14 NC_000014.9:g.93744987= NC_000014.9:g.93744987C>G NC_000014.9:g.93744987C>T
PRIMA1 RefSeqGene NG_009069.1:g.48434= NG_009069.1:g.48434G>C NG_009069.1:g.48434G>A
GRCh38.p13 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.859549= NT_187601.1:g.859549C>G NT_187601.1:g.859549C>T
GRCh37.p13 chr 14 NC_000014.8:g.94211333= NC_000014.8:g.94211333C>G NC_000014.8:g.94211333C>T
PRIMA1 transcript NM_178013.3:c.230-7617= NM_178013.3:c.230-7617G>C NM_178013.3:c.230-7617G>A
PRIMA1 transcript NM_178013.4:c.230-7617= NM_178013.4:c.230-7617G>C NM_178013.4:c.230-7617G>A
PRIMA1 transcript variant X1 XM_011536456.2:c.230-7617= XM_011536456.2:c.230-7617G>C XM_011536456.2:c.230-7617G>A
PRIMA1 transcript variant X3 XM_024449482.1:c.230-7617= XM_024449482.1:c.230-7617G>C XM_024449482.1:c.230-7617G>A
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#.

100 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12301168 Jul 11, 2003 (116)
2 PERLEGEN ss24134305 Sep 20, 2004 (123)
3 ABI ss43651657 Mar 15, 2006 (126)
4 ILLUMINA ss65813750 Oct 16, 2006 (127)
5 ILLUMINA ss74855123 Dec 07, 2007 (129)
6 AFFY ss76495596 Dec 07, 2007 (129)
7 HGSV ss84287470 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss90042973 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96937301 Feb 05, 2009 (130)
10 1000GENOMES ss108571998 Jan 23, 2009 (130)
11 1000GENOMES ss113727682 Jan 25, 2009 (130)
12 KRIBB_YJKIM ss119580065 Dec 01, 2009 (131)
13 ENSEMBL ss134123645 Dec 01, 2009 (131)
14 ENSEMBL ss136963793 Dec 01, 2009 (131)
15 ILLUMINA ss160940450 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168523976 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss170386862 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss171520883 Jul 04, 2010 (132)
19 ILLUMINA ss174673311 Jul 04, 2010 (132)
20 BUSHMAN ss200433412 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss206864659 Jul 04, 2010 (132)
22 1000GENOMES ss226727166 Jul 14, 2010 (132)
23 1000GENOMES ss236658233 Jul 15, 2010 (132)
24 1000GENOMES ss243069102 Jul 15, 2010 (132)
25 BL ss255208830 May 09, 2011 (134)
26 GMI ss282117144 May 04, 2012 (137)
27 GMI ss286894144 Apr 25, 2013 (138)
28 PJP ss291655334 May 09, 2011 (134)
29 ILLUMINA ss481754192 May 04, 2012 (137)
30 ILLUMINA ss481786247 May 04, 2012 (137)
31 ILLUMINA ss482749935 Sep 08, 2015 (146)
32 ILLUMINA ss485671815 May 04, 2012 (137)
33 ILLUMINA ss537544633 Sep 08, 2015 (146)
34 TISHKOFF ss564278838 Apr 25, 2013 (138)
35 SSMP ss659975287 Apr 25, 2013 (138)
36 ILLUMINA ss778623529 Sep 08, 2015 (146)
37 ILLUMINA ss783281498 Sep 08, 2015 (146)
38 ILLUMINA ss784234460 Sep 08, 2015 (146)
39 ILLUMINA ss832542648 Sep 08, 2015 (146)
40 ILLUMINA ss834081051 Sep 08, 2015 (146)
41 EVA-GONL ss991459496 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1079891121 Aug 21, 2014 (142)
43 1000GENOMES ss1352187604 Aug 21, 2014 (142)
44 DDI ss1427513879 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1577437051 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1632373458 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1675367491 Apr 01, 2015 (144)
48 EVA_DECODE ss1695474192 Apr 01, 2015 (144)
49 EVA_SVP ss1713467241 Apr 01, 2015 (144)
50 ILLUMINA ss1752148503 Sep 08, 2015 (146)
51 HAMMER_LAB ss1808051619 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1934830165 Feb 12, 2016 (147)
53 GENOMED ss1968032663 Jul 19, 2016 (147)
54 JJLAB ss2028199085 Sep 14, 2016 (149)
55 ILLUMINA ss2095055928 Dec 20, 2016 (150)
56 USC_VALOUEV ss2156582880 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2204436646 Dec 20, 2016 (150)
58 TOPMED ss2368841797 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2628588937 Nov 08, 2017 (151)
60 ILLUMINA ss2633189749 Nov 08, 2017 (151)
61 GRF ss2701018679 Nov 08, 2017 (151)
62 GNOMAD ss2931048772 Nov 08, 2017 (151)
63 SWEGEN ss3012684803 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3027926909 Nov 08, 2017 (151)
65 TOPMED ss3218874886 Nov 08, 2017 (151)
66 TOPMED ss3218874887 Nov 08, 2017 (151)
67 CSHL ss3350945247 Nov 08, 2017 (151)
68 ILLUMINA ss3627289034 Oct 12, 2018 (152)
69 ILLUMINA ss3631185592 Oct 12, 2018 (152)
70 ILLUMINA ss3633086641 Oct 12, 2018 (152)
71 ILLUMINA ss3633790553 Oct 12, 2018 (152)
72 ILLUMINA ss3634590949 Oct 12, 2018 (152)
73 ILLUMINA ss3635479789 Oct 12, 2018 (152)
74 ILLUMINA ss3636280420 Oct 12, 2018 (152)
75 ILLUMINA ss3637230984 Oct 12, 2018 (152)
76 ILLUMINA ss3638067483 Oct 12, 2018 (152)
77 ILLUMINA ss3640298276 Oct 12, 2018 (152)
78 ILLUMINA ss3641054894 Oct 12, 2018 (152)
79 ILLUMINA ss3641349986 Oct 12, 2018 (152)
80 ILLUMINA ss3643052987 Oct 12, 2018 (152)
81 URBANLAB ss3650267158 Oct 12, 2018 (152)
82 ILLUMINA ss3651993623 Oct 12, 2018 (152)
83 EGCUT_WGS ss3679949838 Jul 13, 2019 (153)
84 EVA_DECODE ss3697269470 Jul 13, 2019 (153)
85 ACPOP ss3740645938 Jul 13, 2019 (153)
86 ILLUMINA ss3744891549 Jul 13, 2019 (153)
87 EVA ss3752690872 Jul 13, 2019 (153)
88 ILLUMINA ss3772390304 Jul 13, 2019 (153)
89 PACBIO ss3787750023 Jul 13, 2019 (153)
90 PACBIO ss3792775282 Jul 13, 2019 (153)
91 PACBIO ss3797659814 Jul 13, 2019 (153)
92 KHV_HUMAN_GENOMES ss3818016668 Jul 13, 2019 (153)
93 EVA ss3834073024 Apr 27, 2020 (154)
94 EVA ss3840627846 Apr 27, 2020 (154)
95 EVA ss3846118161 Apr 27, 2020 (154)
96 SGDP_PRJ ss3882129995 Apr 27, 2020 (154)
97 KRGDB ss3931212204 Apr 27, 2020 (154)
98 VINODS ss4031546787 Apr 27, 2021 (155)
99 TOPMED ss4980826563 Apr 27, 2021 (155)
100 TOMMO_GENOMICS ss5214574650 Apr 27, 2021 (155)
101 1000Genomes NC_000014.8 - 94211333 Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 94211333 Oct 12, 2018 (152)
103 Genetic variation in the Estonian population NC_000014.8 - 94211333 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000014.8 - 94211333 Apr 27, 2020 (154)
105 gnomAD - Genomes NC_000014.9 - 93744987 Apr 27, 2021 (155)
106 Genome of the Netherlands Release 5 NC_000014.8 - 94211333 Apr 27, 2020 (154)
107 HapMap NC_000014.9 - 93744987 Apr 27, 2020 (154)
108 KOREAN population from KRGDB NC_000014.8 - 94211333 Apr 27, 2020 (154)
109 Northern Sweden NC_000014.8 - 94211333 Jul 13, 2019 (153)
110 Qatari NC_000014.8 - 94211333 Apr 27, 2020 (154)
111 SGDP_PRJ NC_000014.8 - 94211333 Apr 27, 2020 (154)
112 Siberian NC_000014.8 - 94211333 Apr 27, 2020 (154)
113 8.3KJPN NC_000014.8 - 94211333 Apr 27, 2021 (155)
114 TopMed NC_000014.9 - 93744987 Apr 27, 2021 (155)
115 UK 10K study - Twins NC_000014.8 - 94211333 Oct 12, 2018 (152)
116 A Vietnamese Genetic Variation Database NC_000014.8 - 94211333 Jul 13, 2019 (153)
117 ALFA NC_000014.9 - 93744987 Apr 27, 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)
rs58863289 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4948408407, ss3218874886 NC_000014.9:93744986:C:G NC_000014.9:93744986:C:G (self)
ss76495596, ss84287470, ss90042973, ss108571998, ss113727682, ss168523976, ss170386862, ss171520883, ss200433412, ss206864659, ss255208830, ss282117144, ss286894144, ss291655334, ss481754192, ss1695474192, ss1713467241, ss3643052987 NC_000014.7:93281085:C:T NC_000014.9:93744986:C:T (self)
65213434, 36247311, 25688086, 3727519, 16181928, 38389598, 13930803, 16872095, 34146975, 9099234, 72543957, 36247311, 8063434, ss226727166, ss236658233, ss243069102, ss481786247, ss482749935, ss485671815, ss537544633, ss564278838, ss659975287, ss778623529, ss783281498, ss784234460, ss832542648, ss834081051, ss991459496, ss1079891121, ss1352187604, ss1427513879, ss1577437051, ss1632373458, ss1675367491, ss1752148503, ss1808051619, ss1934830165, ss1968032663, ss2028199085, ss2095055928, ss2156582880, ss2368841797, ss2628588937, ss2633189749, ss2701018679, ss2931048772, ss3012684803, ss3350945247, ss3627289034, ss3631185592, ss3633086641, ss3633790553, ss3634590949, ss3635479789, ss3636280420, ss3637230984, ss3638067483, ss3640298276, ss3641054894, ss3641349986, ss3651993623, ss3679949838, ss3740645938, ss3744891549, ss3752690872, ss3772390304, ss3787750023, ss3792775282, ss3797659814, ss3834073024, ss3840627846, ss3882129995, ss3931212204, ss5214574650 NC_000014.8:94211332:C:T NC_000014.9:93744986:C:T (self)
459729243, 1204942, 122904472, 196372222, 4948408407, ss2204436646, ss3027926909, ss3218874887, ss3650267158, ss3697269470, ss3818016668, ss3846118161, ss4980826563 NC_000014.9:93744986:C:T NC_000014.9:93744986:C:T (self)
ss12301168 NT_026437.10:74131373:C:T NC_000014.9:93744986:C:T (self)
ss24134305, ss43651657, ss65813750, ss74855123, ss96937301, ss119580065, ss134123645, ss136963793, ss160940450, ss174673311 NT_026437.12:75211332:C:T NC_000014.9:93744986:C:T (self)
ss4031546787 NT_187601.1:859548:C:T NC_000014.9:93744986:C:T
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 rs8019730

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