Name: rs9380240
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.

rs9380240

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31301055 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.476735 (126187/264690, TOPMED)
C=0.465946 (65142/139806, GnomAD)
C=0.417376 (52253/125194, ALFA) (+ 19 more)
T=0.44522 (35038/78698, PAGE_STUDY)
T=0.23986 (6778/28258, 14KJPN)
T=0.23950 (4014/16760, 8.3KJPN)
T=0.4277 (2739/6404, 1000G_30x)
T=0.4279 (2143/5008, 1000G)
C=0.3958 (1773/4480, Estonian)
C=0.3643 (1404/3854, ALSPAC)
C=0.3684 (1366/3708, TWINSUK)
T=0.2884 (845/2930, KOREAN)
C=0.4577 (498/1088, Daghestan)
C=0.442 (441/998, GoNL)
C=0.368 (221/600, NorthernSweden)
T=0.293 (130/444, SGDP_PRJ)
T=0.472 (151/320, HapMap)
T=0.454 (98/216, Qatari)
C=0.495 (105/212, Vietnamese)
C=0.38 (24/64, Ancient Sardinia)
T=0.30 (15/50, Siberian)
C=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC02571 : Intron Variant
LOC112267902 : 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	125194	T=0.582624	C=0.417376
European	Sub	104490	T=0.596181	C=0.403819
African	Sub	6454	T=0.4845	C=0.5155
African Others	Sub	216	T=0.403	C=0.597
African American	Sub	6238	T=0.4873	C=0.5127
Asian	Sub	488	T=0.371	C=0.629
East Asian	Sub	424	T=0.368	C=0.632
Other Asian	Sub	64	T=0.39	C=0.61
Latin American 1	Sub	282	T=0.465	C=0.535
Latin American 2	Sub	4980	T=0.4815	C=0.5185
South Asian	Sub	150	T=0.360	C=0.640
Other	Sub	8350	T=0.5695	C=0.4305

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	T=0.523265	C=0.476735
gnomAD - Genomes	Global	Study-wide	139806	T=0.534054	C=0.465946
gnomAD - Genomes	European	Sub	75748	T=0.58767	C=0.41233
gnomAD - Genomes	African	Sub	41846	T=0.46989	C=0.53011
gnomAD - Genomes	American	Sub	13622	T=0.45360	C=0.54640
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.6039	C=0.3961
gnomAD - Genomes	East Asian	Sub	3124	T=0.3976	C=0.6024
gnomAD - Genomes	Other	Sub	2146	T=0.4939	C=0.5061
Allele Frequency Aggregator	Total	Global	125194	T=0.582624	C=0.417376
Allele Frequency Aggregator	European	Sub	104490	T=0.596181	C=0.403819
Allele Frequency Aggregator	Other	Sub	8350	T=0.5695	C=0.4305
Allele Frequency Aggregator	African	Sub	6454	T=0.4845	C=0.5155
Allele Frequency Aggregator	Latin American 2	Sub	4980	T=0.4815	C=0.5185
Allele Frequency Aggregator	Asian	Sub	488	T=0.371	C=0.629
Allele Frequency Aggregator	Latin American 1	Sub	282	T=0.465	C=0.535
Allele Frequency Aggregator	South Asian	Sub	150	T=0.360	C=0.640
The PAGE Study	Global	Study-wide	78698	T=0.44522	C=0.55478
The PAGE Study	AfricanAmerican	Sub	32516	T=0.47029	C=0.52971
The PAGE Study	Mexican	Sub	10810	T=0.46392	C=0.53608
The PAGE Study	Asian	Sub	8318	T=0.2730	C=0.7270
The PAGE Study	PuertoRican	Sub	7918	T=0.4163	C=0.5837
The PAGE Study	NativeHawaiian	Sub	4532	T=0.4936	C=0.5064
The PAGE Study	Cuban	Sub	4230	T=0.5057	C=0.4943
The PAGE Study	Dominican	Sub	3828	T=0.4757	C=0.5243
The PAGE Study	CentralAmerican	Sub	2448	T=0.4297	C=0.5703
The PAGE Study	SouthAmerican	Sub	1982	T=0.4440	C=0.5560
The PAGE Study	NativeAmerican	Sub	1260	T=0.5444	C=0.4556
The PAGE Study	SouthAsian	Sub	856	T=0.408	C=0.592
14KJPN	JAPANESE	Study-wide	28258	T=0.23986	C=0.76014
8.3KJPN	JAPANESE	Study-wide	16760	T=0.23950	C=0.76050
1000Genomes_30x	Global	Study-wide	6404	T=0.4277	C=0.5723
1000Genomes_30x	African	Sub	1786	T=0.3858	C=0.6142
1000Genomes_30x	Europe	Sub	1266	T=0.5419	C=0.4581
1000Genomes_30x	South Asian	Sub	1202	T=0.4085	C=0.5915
1000Genomes_30x	East Asian	Sub	1170	T=0.3923	C=0.6077
1000Genomes_30x	American	Sub	980	T=0.422	C=0.578
1000Genomes	Global	Study-wide	5008	T=0.4279	C=0.5721
1000Genomes	African	Sub	1322	T=0.3956	C=0.6044
1000Genomes	East Asian	Sub	1008	T=0.3889	C=0.6111
1000Genomes	Europe	Sub	1006	T=0.5408	C=0.4592
1000Genomes	South Asian	Sub	978	T=0.406	C=0.594
1000Genomes	American	Sub	694	T=0.414	C=0.586
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6042	C=0.3958
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6357	C=0.3643
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6316	C=0.3684
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2884	C=0.7116
Genome-wide autozygosity in Daghestan	Global	Study-wide	1088	T=0.5423	C=0.4577
Genome-wide autozygosity in Daghestan	Daghestan	Sub	606	T=0.554	C=0.446
Genome-wide autozygosity in Daghestan	Near_East	Sub	130	T=0.577	C=0.423
Genome-wide autozygosity in Daghestan	Central Asia	Sub	116	T=0.560	C=0.440
Genome-wide autozygosity in Daghestan	Europe	Sub	104	T=0.606	C=0.394
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	T=0.41	C=0.59
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.33	C=0.67
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.558	C=0.442
Northern Sweden	ACPOP	Study-wide	600	T=0.632	C=0.368
SGDP_PRJ	Global	Study-wide	444	T=0.293	C=0.707
HapMap	Global	Study-wide	320	T=0.472	C=0.528
HapMap	African	Sub	120	T=0.383	C=0.617
HapMap	American	Sub	114	T=0.728	C=0.272
HapMap	Asian	Sub	86	T=0.26	C=0.74
Qatari	Global	Study-wide	216	T=0.454	C=0.546
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.505	C=0.495
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	T=0.62	C=0.38
Siberian	Global	Study-wide	50	T=0.30	C=0.70
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	C=0.33

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 6	NC_000006.12:g.31301055T>C
GRCh37.p13 chr 6	NC_000006.11:g.31268832T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2781962T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2782068T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2556702T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2562298T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2558797T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2564382T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2603228T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2602526T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2610039C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2615659C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2643748C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2649333C>T

Gene: LINC02571, long intergenic non-protein coding RNA 2571 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC02571 transcript	NR_149115.1:n.	N/A	Intron Variant

Gene: LOC112267902, uncharacterized LOC112267902 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC112267902 transcript variant X1	XR_926691.3:n.	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	T=	C
GRCh38.p14 chr 6	NC_000006.12:g.31301055=	NC_000006.12:g.31301055T>C
GRCh37.p13 chr 6	NC_000006.11:g.31268832=	NC_000006.11:g.31268832T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.2781962=	NT_113891.3:g.2781962T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.2782068=	NT_113891.2:g.2782068T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2556702=	NT_167248.2:g.2556702T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2562298=	NT_167248.1:g.2562298T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2558797=	NT_167245.2:g.2558797T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2564382=	NT_167245.1:g.2564382T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2603228=	NT_167249.2:g.2603228T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2602526=	NT_167249.1:g.2602526T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2610039C>T	NT_167246.2:g.2610039=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2615659C>T	NT_167246.1:g.2615659=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2643748C>T	NT_167247.2:g.2643748=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2649333C>T	NT_167247.1:g.2649333=

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#.

108 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12864910	Dec 05, 2003 (119)
2	SI_MHC_SNP	ss35087466	May 24, 2005 (125)
3	PERLEGEN	ss68971366	May 16, 2007 (127)
4	BGI	ss105990309	Feb 03, 2009 (130)
5	1000GENOMES	ss109893210	Feb 13, 2009 (136)
6	1000GENOMES	ss114132462	Jan 25, 2009 (136)
7	GMI	ss156732762	Dec 01, 2009 (136)
8	ILLUMINA	ss160982717	Dec 01, 2009 (136)
9	COMPLETE_GENOMICS	ss163336088	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss166416689	Jul 04, 2010 (132)
11	BUSHMAN	ss201615666	Jul 04, 2010 (132)
12	BCM-HGSC-SUB	ss207714653	Jul 04, 2010 (132)
13	1000GENOMES	ss222299416	Jul 14, 2010 (136)
14	1000GENOMES	ss233394126	Jul 14, 2010 (136)
15	1000GENOMES	ss240465546	Jul 15, 2010 (136)
16	GMI	ss278722432	May 04, 2012 (137)
17	GMI	ss285372184	Apr 25, 2013 (138)
18	PJP	ss293823836	May 09, 2011 (136)
19	ILLUMINA	ss481885297	May 04, 2012 (137)
20	ILLUMINA	ss481918328	May 04, 2012 (137)
21	ILLUMINA	ss482876692	Sep 08, 2015 (146)
22	ILLUMINA	ss485736845	May 04, 2012 (137)
23	ILLUMINA	ss537593270	Sep 08, 2015 (146)
24	TISHKOFF	ss559110871	Apr 25, 2013 (138)
25	SSMP	ss653029967	Apr 25, 2013 (138)
26	ILLUMINA	ss778637524	Aug 21, 2014 (142)
27	ILLUMINA	ss783314143	Aug 21, 2014 (142)
28	ILLUMINA	ss784266205	Aug 21, 2014 (142)
29	ILLUMINA	ss832575636	Apr 01, 2015 (144)
30	ILLUMINA	ss834095198	Aug 21, 2014 (142)
31	EVA-GONL	ss982759642	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1073502413	Aug 21, 2014 (142)
33	1000GENOMES	ss1319547199	Aug 21, 2014 (142)
34	HAMMER_LAB	ss1397449228	Sep 08, 2015 (146)
35	EVA_GENOME_DK	ss1581603242	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1615272270	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1658266303	Apr 01, 2015 (144)
38	ILLUMINA	ss1752628023	Sep 08, 2015 (146)
39	HAMMER_LAB	ss1804354368	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1926011113	Feb 12, 2016 (147)
41	ILLUMINA	ss1958886101	Feb 12, 2016 (147)
42	GENOMED	ss1970354703	Jul 19, 2016 (147)
43	JJLAB	ss2023636914	Sep 14, 2016 (149)
44	ILLUMINA	ss2094824231	Dec 20, 2016 (150)
45	ILLUMINA	ss2095177490	Dec 20, 2016 (150)
46	USC_VALOUEV	ss2151802612	Nov 08, 2017 (151)
47	HUMAN_LONGEVITY	ss2282934125	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2626304899	Nov 08, 2017 (151)
49	ILLUMINA	ss2634428503	Nov 08, 2017 (151)
50	GRF	ss2707395680	Nov 08, 2017 (151)
51	ILLUMINA	ss2711068625	Nov 08, 2017 (151)
52	AFFY	ss2985993308	Nov 08, 2017 (151)
53	SWEGEN	ss2998786963	Nov 08, 2017 (151)
54	ILLUMINA	ss3022597480	Nov 08, 2017 (151)
55	BIOINF_KMB_FNS_UNIBA	ss3025604335	Nov 08, 2017 (151)
56	ILLUMINA	ss3629500788	Oct 12, 2018 (152)
57	ILLUMINA	ss3632347211	Oct 12, 2018 (152)
58	ILLUMINA	ss3633414926	Oct 12, 2018 (152)
59	ILLUMINA	ss3634137380	Oct 12, 2018 (152)
60	ILLUMINA	ss3635056371	Oct 12, 2018 (152)
61	ILLUMINA	ss3635818434	Oct 12, 2018 (152)
62	ILLUMINA	ss3636776943	Oct 12, 2018 (152)
63	ILLUMINA	ss3637571209	Oct 12, 2018 (152)
64	ILLUMINA	ss3640763670	Oct 12, 2018 (152)
65	ILLUMINA	ss3653109855	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3666706727	Jul 13, 2019 (153)
67	EVA_DECODE	ss3716899618	Jul 13, 2019 (153)
68	ILLUMINA	ss3726329065	Jul 13, 2019 (153)
69	ACPOP	ss3733354787	Jul 13, 2019 (153)
70	ILLUMINA	ss3744549587	Jul 13, 2019 (153)
71	ILLUMINA	ss3745356390	Jul 13, 2019 (153)
72	EVA	ss3764815722	Jul 13, 2019 (153)
73	PAGE_CC	ss3771278215	Jul 13, 2019 (153)
74	ILLUMINA	ss3772850089	Jul 13, 2019 (153)
75	PACBIO	ss3785422156	Jul 13, 2019 (153)
76	PACBIO	ss3790781649	Jul 13, 2019 (153)
77	PACBIO	ss3795659043	Jul 13, 2019 (153)
78	KHV_HUMAN_GENOMES	ss3807970309	Jul 13, 2019 (153)
79	EVA	ss3829827359	Apr 26, 2020 (154)
80	EVA	ss3838391348	Apr 26, 2020 (154)
81	EVA	ss3843832993	Apr 26, 2020 (154)
82	SGDP_PRJ	ss3864243780	Apr 26, 2020 (154)
83	KRGDB	ss3911019231	Apr 26, 2020 (154)
84	EVA	ss3985212670	Apr 26, 2021 (155)
85	EVA	ss4017265892	Apr 26, 2021 (155)
86	VINODS	ss4025185463	Apr 26, 2021 (155)
87	VINODS	ss4025208177	Apr 26, 2021 (155)
88	VINODS	ss4025264309	Apr 26, 2021 (155)
89	VINODS	ss4025284425	Apr 26, 2021 (155)
90	TOPMED	ss4698342857	Apr 26, 2021 (155)
91	TOMMO_GENOMICS	ss5176822741	Apr 26, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5267926330	Oct 13, 2022 (156)
93	EVA	ss5315141251	Oct 13, 2022 (156)
94	EVA	ss5364710488	Oct 13, 2022 (156)
95	HUGCELL_USP	ss5465662928	Oct 13, 2022 (156)
96	EVA	ss5508424037	Oct 13, 2022 (156)
97	1000G_HIGH_COVERAGE	ss5553580033	Oct 13, 2022 (156)
98	SANFORD_IMAGENETICS	ss5624623155	Oct 13, 2022 (156)
99	SANFORD_IMAGENETICS	ss5640080342	Oct 13, 2022 (156)
100	TOMMO_GENOMICS	ss5714674408	Oct 13, 2022 (156)
101	EVA	ss5799683379	Oct 13, 2022 (156)
102	YY_MCH	ss5807299929	Oct 13, 2022 (156)
103	EVA	ss5842019138	Oct 13, 2022 (156)
104	EVA	ss5847290413	Oct 13, 2022 (156)
105	EVA	ss5855279686	Oct 13, 2022 (156)
106	EVA	ss5883234252	Oct 13, 2022 (156)
107	EVA	ss5968583381	Oct 13, 2022 (156)
108	EVA	ss5979779450	Oct 13, 2022 (156)
109	1000Genomes	NC_000006.11 - 31268832	Oct 12, 2018 (152)
110	1000Genomes_30x	NC_000006.12 - 31301055	Oct 13, 2022 (156)
111	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 31268832	Oct 12, 2018 (152)
112	Genome-wide autozygosity in Daghestan	NC_000006.10 - 31376811	Apr 26, 2020 (154)
113	Genetic variation in the Estonian population	NC_000006.11 - 31268832	Oct 12, 2018 (152)
114	The Danish reference pan genome	NC_000006.11 - 31268832	Apr 26, 2020 (154)
115	gnomAD - Genomes	NC_000006.12 - 31301055	Apr 26, 2021 (155)
116	Genome of the Netherlands Release 5	NC_000006.11 - 31268832	Apr 26, 2020 (154)
117	HapMap	NC_000006.12 - 31301055	Apr 26, 2020 (154)
118	KOREAN population from KRGDB	NC_000006.11 - 31268832	Apr 26, 2020 (154)
119	Northern Sweden	NC_000006.11 - 31268832	Jul 13, 2019 (153)
120	The PAGE Study	NC_000006.12 - 31301055	Jul 13, 2019 (153)
121	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 31268832	Apr 26, 2021 (155)
122	Qatari	NC_000006.11 - 31268832	Apr 26, 2020 (154)
123	SGDP_PRJ	NC_000006.11 - 31268832	Apr 26, 2020 (154)
124	Siberian	NC_000006.11 - 31268832	Apr 26, 2020 (154)
125	8.3KJPN	NC_000006.11 - 31268832	Apr 26, 2021 (155)
126	14KJPN	NC_000006.12 - 31301055	Oct 13, 2022 (156)
127	TopMed	NC_000006.12 - 31301055	Apr 26, 2021 (155)
128	UK 10K study - Twins	NC_000006.11 - 31268832	Oct 12, 2018 (152)
129	A Vietnamese Genetic Variation Database	NC_000006.11 - 31268832	Jul 13, 2019 (153)
130	ALFA	NC_000006.12 - 31301055	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).

Associated ID	History Updated (Build)
rs77819391	Mar 28, 2012 (136)
rs114511540	Mar 28, 2012 (136)
rs117254648	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
423880, ss109893210, ss114132462, ss160982717, ss163336088, ss166416689, ss201615666, ss207714653, ss278722432, ss285372184, ss293823836, ss481885297, ss1397449228	NC_000006.10:31376810:T:C	NC_000006.12:31301054:T:C	(self)
31314156, 17461143, 12444975, 7768181, 7758931, 18196625, 6639652, 438597, 8053043, 16260760, 4318966, 34792048, 17461143, 3870450, ss222299416, ss233394126, ss240465546, ss481918328, ss482876692, ss485736845, ss537593270, ss559110871, ss653029967, ss778637524, ss783314143, ss784266205, ss832575636, ss834095198, ss982759642, ss1073502413, ss1319547199, ss1581603242, ss1615272270, ss1658266303, ss1752628023, ss1804354368, ss1926011113, ss1958886101, ss1970354703, ss2023636914, ss2094824231, ss2095177490, ss2151802612, ss2626304899, ss2634428503, ss2707395680, ss2711068625, ss2985993308, ss2998786963, ss3022597480, ss3629500788, ss3632347211, ss3633414926, ss3634137380, ss3635056371, ss3635818434, ss3636776943, ss3637571209, ss3640763670, ss3653109855, ss3666706727, ss3733354787, ss3744549587, ss3745356390, ss3764815722, ss3772850089, ss3785422156, ss3790781649, ss3795659043, ss3829827359, ss3838391348, ss3864243780, ss3911019231, ss3985212670, ss4017265892, ss5176822741, ss5315141251, ss5364710488, ss5508424037, ss5624623155, ss5640080342, ss5799683379, ss5842019138, ss5847290413, ss5968583381, ss5979779450	NC_000006.11:31268831:T:C	NC_000006.12:31301054:T:C	(self)
41105968, 221167041, 3098938, 499684, 48511512, 535720415, 11166711711, ss2282934125, ss3025604335, ss3716899618, ss3726329065, ss3771278215, ss3807970309, ss3843832993, ss4698342857, ss5267926330, ss5465662928, ss5553580033, ss5714674408, ss5807299929, ss5855279686, ss5883234252	NC_000006.12:31301054:T:C	NC_000006.12:31301054:T:C	(self)
ss12864910	NT_007592.13:22123830:T:C	NC_000006.12:31301054:T:C	(self)
ss35087466, ss68971366, ss105990309, ss156732762	NT_007592.15:31208831:T:C	NC_000006.12:31301054:T:C	(self)
ss4025185463	NT_113891.3:2781961:T:C	NC_000006.12:31301054:T:C	(self)
ss4025208177	NT_167245.2:2558796:T:C	NC_000006.12:31301054:T:C	(self)
ss4025264309	NT_167248.2:2556701:T:C	NC_000006.12:31301054:T:C	(self)
ss4025284425	NT_167249.2:2603227:T:C	NC_000006.12:31301054:T: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 rs9380240

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

rs9380240