Name: rs8019730
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.

rs8019730

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:93744987 (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: 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) (+ 16 more)
C=0.47434 (13404/28258, 14KJPN)
C=0.47643 (7985/16760, 8.3KJPN)
C=0.3356 (2149/6404, 1000G_30x)
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

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	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

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	C=0.237580	T=0.762420
Allele Frequency Aggregator	Total	Global	147432	C=0.133824	G=0.000000, T=0.866176
Allele Frequency Aggregator	European	Sub	123740	C=0.112090	G=0.000000, T=0.887910
Allele Frequency Aggregator	Latin American 2	Sub	8480	C=0.1018	G=0.0000, T=0.8982
Allele Frequency Aggregator	African	Sub	6918	C=0.4769	G=0.0000, T=0.5231
Allele Frequency Aggregator	Other	Sub	6536	C=0.1764	G=0.0000, T=0.8236
Allele Frequency Aggregator	Latin American 1	Sub	888	C=0.181	G=0.000, T=0.819
Allele Frequency Aggregator	Asian	Sub	674	C=0.509	G=0.000, T=0.491
Allele Frequency Aggregator	South Asian	Sub	196	C=0.209	G=0.000, T=0.791
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
14KJPN	JAPANESE	Study-wide	28258	C=0.47434	T=0.52566
8.3KJPN	JAPANESE	Study-wide	16760	C=0.47643	T=0.52357
1000Genomes_30x	Global	Study-wide	6404	C=0.3356	T=0.6644
1000Genomes_30x	African	Sub	1786	C=0.5274	T=0.4726
1000Genomes_30x	Europe	Sub	1266	C=0.1106	T=0.8894
1000Genomes_30x	South Asian	Sub	1202	C=0.2671	T=0.7329
1000Genomes_30x	East Asian	Sub	1170	C=0.5359	T=0.4641
1000Genomes_30x	American	Sub	980	C=0.121	T=0.879
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

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 14	NC_000014.9:g.93744987C>G
GRCh38.p14 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.p14 chr 14 alt locus HSCHR14_7_CTG1	NT_187601.1:g.859549C>G
GRCh38.p14 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_011536456.3:c.230-7617… XM_011536456.3:c.230-7617G>C	N/A	Intron Variant
PRIMA1 transcript variant X2	XM_047430966.1:c.230-7617… XM_047430966.1:c.230-7617G>C	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	C=	G	T
GRCh38.p14 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.p14 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_011536456.3:c.230-7617=	XM_011536456.3:c.230-7617G>C	XM_011536456.3:c.230-7617G>A
PRIMA1 transcript variant X2	XM_047430966.1:c.230-7617=	XM_047430966.1:c.230-7617G>C	XM_047430966.1:c.230-7617G>A

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#.

110 SubSNP, 19 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	SYSTEMSBIOZJU	ss2628588937	Nov 08, 2017 (151)
59	ILLUMINA	ss2633189749	Nov 08, 2017 (151)
60	GRF	ss2701018679	Nov 08, 2017 (151)
61	GNOMAD	ss2931048772	Nov 08, 2017 (151)
62	SWEGEN	ss3012684803	Nov 08, 2017 (151)
63	BIOINF_KMB_FNS_UNIBA	ss3027926909	Nov 08, 2017 (151)
64	CSHL	ss3350945247	Nov 08, 2017 (151)
65	ILLUMINA	ss3627289034	Oct 12, 2018 (152)
66	ILLUMINA	ss3631185592	Oct 12, 2018 (152)
67	ILLUMINA	ss3633086641	Oct 12, 2018 (152)
68	ILLUMINA	ss3633790553	Oct 12, 2018 (152)
69	ILLUMINA	ss3634590949	Oct 12, 2018 (152)
70	ILLUMINA	ss3635479789	Oct 12, 2018 (152)
71	ILLUMINA	ss3636280420	Oct 12, 2018 (152)
72	ILLUMINA	ss3637230984	Oct 12, 2018 (152)
73	ILLUMINA	ss3638067483	Oct 12, 2018 (152)
74	ILLUMINA	ss3640298276	Oct 12, 2018 (152)
75	ILLUMINA	ss3641054894	Oct 12, 2018 (152)
76	ILLUMINA	ss3641349986	Oct 12, 2018 (152)
77	ILLUMINA	ss3643052987	Oct 12, 2018 (152)
78	URBANLAB	ss3650267158	Oct 12, 2018 (152)
79	ILLUMINA	ss3651993623	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3679949838	Jul 13, 2019 (153)
81	EVA_DECODE	ss3697269470	Jul 13, 2019 (153)
82	ACPOP	ss3740645938	Jul 13, 2019 (153)
83	ILLUMINA	ss3744891549	Jul 13, 2019 (153)
84	EVA	ss3752690872	Jul 13, 2019 (153)
85	ILLUMINA	ss3772390304	Jul 13, 2019 (153)
86	PACBIO	ss3787750023	Jul 13, 2019 (153)
87	PACBIO	ss3792775282	Jul 13, 2019 (153)
88	PACBIO	ss3797659814	Jul 13, 2019 (153)
89	KHV_HUMAN_GENOMES	ss3818016668	Jul 13, 2019 (153)
90	EVA	ss3834073024	Apr 27, 2020 (154)
91	EVA	ss3840627846	Apr 27, 2020 (154)
92	EVA	ss3846118161	Apr 27, 2020 (154)
93	SGDP_PRJ	ss3882129995	Apr 27, 2020 (154)
94	KRGDB	ss3931212204	Apr 27, 2020 (154)
95	VINODS	ss4031546787	Apr 27, 2021 (155)
96	TOPMED	ss4980826563	Apr 27, 2021 (155)
97	TOMMO_GENOMICS	ss5214574650	Apr 27, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5297262936	Oct 16, 2022 (156)
99	EVA	ss5315760077	Oct 16, 2022 (156)
100	EVA	ss5417156328	Oct 16, 2022 (156)
101	HUGCELL_USP	ss5491209187	Oct 16, 2022 (156)
102	1000G_HIGH_COVERAGE	ss5598067067	Oct 16, 2022 (156)
103	SANFORD_IMAGENETICS	ss5656810248	Oct 16, 2022 (156)
104	TOMMO_GENOMICS	ss5767763747	Oct 16, 2022 (156)
105	EVA	ss5799928661	Oct 16, 2022 (156)
106	YY_MCH	ss5815010348	Oct 16, 2022 (156)
107	EVA	ss5841521499	Oct 16, 2022 (156)
108	EVA	ss5851163448	Oct 16, 2022 (156)
109	EVA	ss5902538278	Oct 16, 2022 (156)
110	EVA	ss5948273959	Oct 16, 2022 (156)
111	1000Genomes	NC_000014.8 - 94211333	Oct 12, 2018 (152)
112	1000Genomes_30x	NC_000014.9 - 93744987	Oct 16, 2022 (156)
113	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 94211333	Oct 12, 2018 (152)
114	Genetic variation in the Estonian population	NC_000014.8 - 94211333	Oct 12, 2018 (152)
115	The Danish reference pan genome	NC_000014.8 - 94211333	Apr 27, 2020 (154)
116	gnomAD - Genomes	NC_000014.9 - 93744987	Apr 27, 2021 (155)
117	Genome of the Netherlands Release 5	NC_000014.8 - 94211333	Apr 27, 2020 (154)
118	HapMap	NC_000014.9 - 93744987	Apr 27, 2020 (154)
119	KOREAN population from KRGDB	NC_000014.8 - 94211333	Apr 27, 2020 (154)
120	Northern Sweden	NC_000014.8 - 94211333	Jul 13, 2019 (153)
121	Qatari	NC_000014.8 - 94211333	Apr 27, 2020 (154)
122	SGDP_PRJ	NC_000014.8 - 94211333	Apr 27, 2020 (154)
123	Siberian	NC_000014.8 - 94211333	Apr 27, 2020 (154)
124	8.3KJPN	NC_000014.8 - 94211333	Apr 27, 2021 (155)
125	14KJPN	NC_000014.9 - 93744987	Oct 16, 2022 (156)
126	TopMed	NC_000014.9 - 93744987	Apr 27, 2021 (155)
127	UK 10K study - Twins	NC_000014.8 - 94211333	Oct 12, 2018 (152)
128	A Vietnamese Genetic Variation Database	NC_000014.8 - 94211333	Jul 13, 2019 (153)
129	ALFA	NC_000014.9 - 93744987	Apr 27, 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).

Associated ID	History Updated (Build)
rs58863289	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4948408407	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, 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, ss5315760077, ss5417156328, ss5656810248, ss5799928661, ss5841521499, ss5948273959	NC_000014.8:94211332:C:T	NC_000014.9:93744986:C:T	(self)
85593002, 459729243, 1204942, 101600851, 196372222, 4948408407, ss2204436646, ss3027926909, ss3650267158, ss3697269470, ss3818016668, ss3846118161, ss4980826563, ss5297262936, ss5491209187, ss5598067067, ss5767763747, ss5815010348, ss5851163448, ss5902538278	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	(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 rs8019730

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
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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

rs8019730