Name: rs156411
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.

rs156411

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:23320234 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.132676 (35118/264690, TOPMED)
G=0.126501 (17723/140102, GnomAD)
G=0.02732 (772/28258, 14KJPN) (+ 16 more)
G=0.08309 (2023/24348, ALFA)
G=0.02769 (464/16758, 8.3KJPN)
G=0.1485 (951/6404, 1000G_30x)
G=0.1384 (693/5008, 1000G)
G=0.0326 (146/4480, Estonian)
G=0.0246 (95/3854, ALSPAC)
G=0.0240 (89/3708, TWINSUK)
G=0.0208 (61/2930, KOREAN)
G=0.0235 (43/1832, Korea1K)
G=0.1957 (337/1722, HapMap)
G=0.023 (23/998, GoNL)
G=0.015 (9/600, NorthernSweden)
G=0.144 (31/216, Qatari)
G=0.024 (5/210, Vietnamese)
A=0.33 (27/82, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IGF2BP3 : 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	24348	A=0.91691	G=0.08309
European	Sub	18126	A=0.97446	G=0.02554
African	Sub	4114	A=0.6585	G=0.3415
African Others	Sub	148	A=0.574	G=0.426
African American	Sub	3966	A=0.6616	G=0.3384
Asian	Sub	124	A=0.992	G=0.008
East Asian	Sub	96	A=0.99	G=0.01
Other Asian	Sub	28	A=1.00	G=0.00
Latin American 1	Sub	168	A=0.875	G=0.125
Latin American 2	Sub	670	A=0.943	G=0.057
South Asian	Sub	98	A=0.95	G=0.05
Other	Sub	1048	A=0.9141	G=0.0859

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	A=0.867324	G=0.132676
gnomAD - Genomes	Global	Study-wide	140102	A=0.873499	G=0.126501
gnomAD - Genomes	European	Sub	75936	A=0.97591	G=0.02409
gnomAD - Genomes	African	Sub	41910	A=0.65440	G=0.34560
gnomAD - Genomes	American	Sub	13654	A=0.92610	G=0.07390
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.9564	G=0.0436
gnomAD - Genomes	East Asian	Sub	3128	A=0.9933	G=0.0067
gnomAD - Genomes	Other	Sub	2150	A=0.8907	G=0.1093
14KJPN	JAPANESE	Study-wide	28258	A=0.97268	G=0.02732
Allele Frequency Aggregator	Total	Global	24348	A=0.91691	G=0.08309
Allele Frequency Aggregator	European	Sub	18126	A=0.97446	G=0.02554
Allele Frequency Aggregator	African	Sub	4114	A=0.6585	G=0.3415
Allele Frequency Aggregator	Other	Sub	1048	A=0.9141	G=0.0859
Allele Frequency Aggregator	Latin American 2	Sub	670	A=0.943	G=0.057
Allele Frequency Aggregator	Latin American 1	Sub	168	A=0.875	G=0.125
Allele Frequency Aggregator	Asian	Sub	124	A=0.992	G=0.008
Allele Frequency Aggregator	South Asian	Sub	98	A=0.95	G=0.05
8.3KJPN	JAPANESE	Study-wide	16758	A=0.97231	G=0.02769
1000Genomes_30x	Global	Study-wide	6404	A=0.8515	G=0.1485
1000Genomes_30x	African	Sub	1786	A=0.6025	G=0.3975
1000Genomes_30x	Europe	Sub	1266	A=0.9826	G=0.0174
1000Genomes_30x	South Asian	Sub	1202	A=0.9010	G=0.0990
1000Genomes_30x	East Asian	Sub	1170	A=0.9906	G=0.0094
1000Genomes_30x	American	Sub	980	A=0.909	G=0.091
1000Genomes	Global	Study-wide	5008	A=0.8616	G=0.1384
1000Genomes	African	Sub	1322	A=0.6120	G=0.3880
1000Genomes	East Asian	Sub	1008	A=0.9901	G=0.0099
1000Genomes	Europe	Sub	1006	A=0.9811	G=0.0189
1000Genomes	South Asian	Sub	978	A=0.904	G=0.096
1000Genomes	American	Sub	694	A=0.918	G=0.082
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9674	G=0.0326
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9754	G=0.0246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9760	G=0.0240
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9792	G=0.0208
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9765	G=0.0235
HapMap	Global	Study-wide	1722	A=0.8043	G=0.1957
HapMap	African	Sub	692	A=0.600	G=0.400
HapMap	American	Sub	600	A=0.918	G=0.082
HapMap	Asian	Sub	254	A=0.980	G=0.020
HapMap	Europe	Sub	176	A=0.966	G=0.034
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.977	G=0.023
Northern Sweden	ACPOP	Study-wide	600	A=0.985	G=0.015
Qatari	Global	Study-wide	216	A=0.856	G=0.144
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.976	G=0.024
SGDP_PRJ	Global	Study-wide	82	A=0.33	G=0.67
The Danish reference pan genome	Danish	Study-wide	40	A=0.97	G=0.03

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 7	NC_000007.14:g.23320234A>G
GRCh37.p13 chr 7	NC_000007.13:g.23359853A>G

Gene: IGF2BP3, insulin like growth factor 2 mRNA binding protein 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IGF2BP3 transcript	NM_006547.3:c.1204-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X2	XM_011515089.3:c.1219-980… XM_011515089.3:c.1219-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X4	XM_011515090.4:c.880-980T… XM_011515090.4:c.880-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X5	XM_011515092.3:c.925-980T… XM_011515092.3:c.925-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X6	XM_011515093.3:c.925-980T… XM_011515093.3:c.925-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X1	XM_047419782.1:c.1369-980… XM_047419782.1:c.1369-980T>C	N/A	Intron Variant
IGF2BP3 transcript variant X3	XM_047419784.1:c.1369-980… XM_047419784.1:c.1369-980T>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	A=	G
GRCh38.p14 chr 7	NC_000007.14:g.23320234=	NC_000007.14:g.23320234A>G
GRCh37.p13 chr 7	NC_000007.13:g.23359853=	NC_000007.13:g.23359853A>G
IGF2BP3 transcript	NM_006547.2:c.1204-980=	NM_006547.2:c.1204-980T>C
IGF2BP3 transcript	NM_006547.3:c.1204-980=	NM_006547.3:c.1204-980T>C
IGF2BP3 transcript variant X2	XM_011515089.3:c.1219-980=	XM_011515089.3:c.1219-980T>C
IGF2BP3 transcript variant X4	XM_011515090.4:c.880-980=	XM_011515090.4:c.880-980T>C
IGF2BP3 transcript variant X5	XM_011515092.3:c.925-980=	XM_011515092.3:c.925-980T>C
IGF2BP3 transcript variant X6	XM_011515093.3:c.925-980=	XM_011515093.3:c.925-980T>C
IGF2BP3 transcript variant X1	XM_047419782.1:c.1369-980=	XM_047419782.1:c.1369-980T>C
IGF2BP3 transcript variant X3	XM_047419784.1:c.1369-980=	XM_047419784.1:c.1369-980T>C

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#.

59 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss262126	Jul 12, 2000 (79)
2	KWOK	ss356007	Jul 12, 2000 (79)
3	SC_JCM	ss631343	Jul 16, 2000 (87)
4	KWOK	ss1255784	Oct 04, 2000 (86)
5	KWOK	ss1628825	Oct 18, 2000 (87)
6	TSC-CSHL	ss3163556	Jun 15, 2001 (96)
7	ILLUMINA	ss75253234	Dec 07, 2007 (129)
8	1000GENOMES	ss113460966	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss115982483	Dec 01, 2009 (131)
10	KRIBB_YJKIM	ss119342012	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss163825671	Jul 04, 2010 (132)
12	ILLUMINA	ss172583908	Jul 04, 2010 (132)
13	BUSHMAN	ss203073907	Jul 04, 2010 (132)
14	1000GENOMES	ss222962023	Jul 14, 2010 (132)
15	1000GENOMES	ss233889260	Jul 15, 2010 (132)
16	ILLUMINA	ss536895370	Sep 08, 2015 (146)
17	TISHKOFF	ss559867828	Apr 25, 2013 (138)
18	SSMP	ss654220249	Apr 25, 2013 (138)
19	EVA-GONL	ss984050688	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1074441469	Aug 21, 2014 (142)
21	1000GENOMES	ss1324299181	Aug 21, 2014 (142)
22	EVA_GENOME_DK	ss1582111293	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1617768829	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1660762862	Apr 01, 2015 (144)
25	EVA_SVP	ss1712938894	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1804911437	Sep 08, 2015 (146)
27	WEILL_CORNELL_DGM	ss1927296496	Feb 12, 2016 (147)
28	GENOMED	ss1970648567	Jul 19, 2016 (147)
29	JJLAB	ss2024324470	Sep 14, 2016 (149)
30	HUMAN_LONGEVITY	ss2292428331	Dec 20, 2016 (150)
31	GRF	ss2708177001	Nov 08, 2017 (151)
32	GNOMAD	ss2850793266	Nov 08, 2017 (151)
33	SWEGEN	ss3000774636	Nov 08, 2017 (151)
34	ILLUMINA	ss3629771843	Oct 12, 2018 (152)
35	ILLUMINA	ss3638685663	Oct 12, 2018 (152)
36	ILLUMINA	ss3643622665	Oct 12, 2018 (152)
37	EGCUT_WGS	ss3668702915	Jul 13, 2019 (153)
38	EVA_DECODE	ss3719280892	Jul 13, 2019 (153)
39	ACPOP	ss3734440708	Jul 13, 2019 (153)
40	EVA	ss3766301783	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3809469167	Jul 13, 2019 (153)
42	EVA	ss3830464104	Apr 26, 2020 (154)
43	SGDP_PRJ	ss3866827218	Apr 26, 2020 (154)
44	KRGDB	ss3913863096	Apr 26, 2020 (154)
45	KOGIC	ss3961053674	Apr 26, 2020 (154)
46	EVA	ss4017325415	Apr 26, 2021 (155)
47	TOPMED	ss4738768758	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5182215382	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5272150325	Oct 14, 2022 (156)
50	EVA	ss5372232475	Oct 14, 2022 (156)
51	HUGCELL_USP	ss5469402986	Oct 14, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5559956132	Oct 14, 2022 (156)
53	SANFORD_IMAGENETICS	ss5642532756	Oct 14, 2022 (156)
54	TOMMO_GENOMICS	ss5721781576	Oct 14, 2022 (156)
55	YY_MCH	ss5808416371	Oct 14, 2022 (156)
56	EVA	ss5822534196	Oct 14, 2022 (156)
57	EVA	ss5855804036	Oct 14, 2022 (156)
58	EVA	ss5858075844	Oct 14, 2022 (156)
59	EVA	ss5971732026	Oct 14, 2022 (156)
60	1000Genomes	NC_000007.13 - 23359853	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000007.14 - 23320234	Oct 14, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 23359853	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000007.13 - 23359853	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000007.13 - 23359853	Apr 26, 2020 (154)
65	gnomAD - Genomes	NC_000007.14 - 23320234	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000007.13 - 23359853	Apr 26, 2020 (154)
67	HapMap	NC_000007.14 - 23320234	Apr 26, 2020 (154)
68	KOREAN population from KRGDB	NC_000007.13 - 23359853	Apr 26, 2020 (154)
69	Korean Genome Project	NC_000007.14 - 23320234	Apr 26, 2020 (154)
70	Northern Sweden	NC_000007.13 - 23359853	Jul 13, 2019 (153)
71	Qatari	NC_000007.13 - 23359853	Apr 26, 2020 (154)
72	SGDP_PRJ	NC_000007.13 - 23359853	Apr 26, 2020 (154)
73	8.3KJPN	NC_000007.13 - 23359853	Apr 26, 2021 (155)
74	14KJPN	NC_000007.14 - 23320234	Oct 14, 2022 (156)
75	TopMed	NC_000007.14 - 23320234	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000007.13 - 23359853	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000007.13 - 23359853	Jul 13, 2019 (153)
78	ALFA	NC_000007.14 - 23320234	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)
rs465415	Oct 23, 2000 (87)
rs386538275	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss113460966, ss115982483, ss163825671, ss203073907, ss1712938894, ss3643622665	NC_000007.12:23326377:A:G	NC_000007.14:23320233:A:G	(self)
36239786, 20202208, 14441163, 8276232, 9006685, 21040490, 7725573, 9338426, 18844198, 40184689, 20202208, 4501334, ss222962023, ss233889260, ss536895370, ss559867828, ss654220249, ss984050688, ss1074441469, ss1324299181, ss1582111293, ss1617768829, ss1660762862, ss1804911437, ss1927296496, ss1970648567, ss2024324470, ss2708177001, ss2850793266, ss3000774636, ss3629771843, ss3638685663, ss3668702915, ss3734440708, ss3766301783, ss3830464104, ss3866827218, ss3913863096, ss4017325415, ss5182215382, ss5372232475, ss5642532756, ss5822534196, ss5971732026	NC_000007.13:23359852:A:G	NC_000007.14:23320233:A:G	(self)
47482067, 255529334, 3356240, 17431675, 55618680, 576146317, 107598567, ss2292428331, ss3719280892, ss3809469167, ss3961053674, ss4738768758, ss5272150325, ss5469402986, ss5559956132, ss5721781576, ss5808416371, ss5855804036, ss5858075844	NC_000007.14:23320233:A:G	NC_000007.14:23320233:A:G	(self)
ss262126, ss356007, ss631343, ss1255784, ss1628825, ss3163556, ss75253234, ss119342012, ss172583908	NT_007819.17:23349852:A:G	NC_000007.14:23320233:A:G	(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 rs156411

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs156411