Name: rs6506356
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.

rs6506356

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:69805 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.01391 (393/28256, 14KJPN)
C=0.01438 (241/16758, 8.3KJPN)
C=0.4585 (3069/6694, ALFA) (+ 10 more)
C=0.2915 (1460/5008, 1000G)
C=0.0263 (77/2928, KOREAN)
C=0.0267 (49/1832, Korea1K)
C=0.369 (368/998, GoNL)
C=0.323 (194/600, NorthernSweden)
C=0.185 (92/496, SGDP_PRJ)
C=0.269 (85/316, HapMap)
C=0.421 (91/216, Qatari)
C=0.061 (13/214, Vietnamese)
C=0.16 (9/56, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TUBB8B : 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	6694	C=0.4585	A=0.0000, T=0.5415
European	Sub	5974	C=0.4563	A=0.0000, T=0.5437
African	Sub	584	C=0.368	A=0.000, T=0.632
African Others	Sub	26	C=0.35	A=0.00, T=0.65
African American	Sub	558	C=0.369	A=0.000, T=0.631
Asian	Sub	0	C=0	A=0, T=0
East Asian	Sub	0	C=0	A=0, T=0
Other Asian	Sub	0	C=0	A=0, T=0
Latin American 1	Sub	18	C=1.00	A=0.00, T=0.00
Latin American 2	Sub	58	C=1.00	A=0.00, T=0.00
South Asian	Sub	6	C=1.0	A=0.0, T=0.0
Other	Sub	54	C=0.85	A=0.00, T=0.15

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
14KJPN	JAPANESE	Study-wide	28256	C=0.01391	T=0.98609
8.3KJPN	JAPANESE	Study-wide	16758	C=0.01438	T=0.98562
Allele Frequency Aggregator	Total	Global	6694	C=0.4585	A=0.0000, T=0.5415
Allele Frequency Aggregator	European	Sub	5974	C=0.4563	A=0.0000, T=0.5437
Allele Frequency Aggregator	African	Sub	584	C=0.368	A=0.000, T=0.632
Allele Frequency Aggregator	Latin American 2	Sub	58	C=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	Other	Sub	54	C=0.85	A=0.00, T=0.15
Allele Frequency Aggregator	Latin American 1	Sub	18	C=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	6	C=1.0	A=0.0, T=0.0
Allele Frequency Aggregator	Asian	Sub	0	C=0	A=0, T=0
1000Genomes	Global	Study-wide	5008	C=0.2915	T=0.7085
1000Genomes	African	Sub	1322	C=0.3207	T=0.6793
1000Genomes	East Asian	Sub	1008	C=0.0179	T=0.9821
1000Genomes	Europe	Sub	1006	C=0.4503	T=0.5497
1000Genomes	South Asian	Sub	978	C=0.315	T=0.685
1000Genomes	American	Sub	694	C=0.370	T=0.630
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.0263	T=0.9737
Korean Genome Project	KOREAN	Study-wide	1832	C=0.0267	T=0.9733
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.369	T=0.631
Northern Sweden	ACPOP	Study-wide	600	C=0.323	T=0.677
SGDP_PRJ	Global	Study-wide	496	C=0.185	T=0.815
HapMap	Global	Study-wide	316	C=0.269	T=0.731
HapMap	African	Sub	116	C=0.319	T=0.681
HapMap	American	Sub	114	C=0.412	T=0.588
HapMap	Asian	Sub	86	C=0.01	T=0.99
Qatari	Global	Study-wide	216	C=0.421	T=0.579
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.061	T=0.939
Siberian	Global	Study-wide	56	C=0.16	T=0.84

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 18	NC_000018.10:g.69805C>A
GRCh38.p14 chr 18	NC_000018.10:g.69805C>T
GRCh37.p13 chr 18	NC_000018.9:g.69805C>A
GRCh37.p13 chr 18	NC_000018.9:g.69805C>T

Gene: TUBB8B, tubulin beta 8B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TUBB8B transcript variant 2	NM_001389609.1:c.-429+350… NM_001389609.1:c.-429+3507G>T	N/A	Intron Variant
TUBB8B transcript variant 3	NM_001389610.1:c.-289+350… NM_001389610.1:c.-289+3507G>T	N/A	Intron Variant
TUBB8B transcript variant 1	NM_001358689.2:c.	N/A	Genic Upstream Transcript Variant
TUBB8B transcript variant X1	XM_024451143.2:c.-843+350… XM_024451143.2:c.-843+3507G>T	N/A	Intron Variant
TUBB8B transcript variant X2	XM_024451144.2:c.	N/A	Genic Upstream Transcript Variant
TUBB8B transcript variant X3	XM_024451146.2:c.	N/A	Genic Upstream Transcript Variant
TUBB8B transcript variant X4	XM_024451147.2:c.	N/A	Genic Upstream Transcript Variant
TUBB8B transcript variant X5	XM_024451148.2:c.	N/A	Genic Upstream Transcript 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=	A	T
GRCh38.p14 chr 18	NC_000018.10:g.69805=	NC_000018.10:g.69805C>A	NC_000018.10:g.69805C>T
GRCh37.p13 chr 18	NC_000018.9:g.69805=	NC_000018.9:g.69805C>A	NC_000018.9:g.69805C>T
TUBB8B transcript variant 2	NM_001389609.1:c.-429+3507=	NM_001389609.1:c.-429+3507G>T	NM_001389609.1:c.-429+3507G>A
TUBB8B transcript variant 3	NM_001389610.1:c.-289+3507=	NM_001389610.1:c.-289+3507G>T	NM_001389610.1:c.-289+3507G>A
TUBB8B transcript variant X1	XM_024451143.2:c.-843+3507=	XM_024451143.2:c.-843+3507G>T	XM_024451143.2:c.-843+3507G>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#.

68 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10905780	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss12438775	Jul 11, 2003 (116)
3	PERLEGEN	ss69204329	May 17, 2007 (127)
4	HGSV	ss81059137	Dec 15, 2007 (130)
5	HGSV	ss81588138	Dec 15, 2007 (130)
6	BGI	ss106524396	Feb 06, 2009 (130)
7	1000GENOMES	ss110009188	Jan 24, 2009 (130)
8	1000GENOMES	ss113928637	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss117754881	Feb 14, 2009 (130)
10	ENSEMBL	ss143118765	Dec 01, 2009 (131)
11	GMI	ss154729437	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss167621777	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss168827470	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss171368176	Jul 04, 2010 (132)
15	BUSHMAN	ss202871654	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss208090909	Jul 04, 2010 (132)
17	1000GENOMES	ss227692412	Jul 14, 2010 (132)
18	1000GENOMES	ss237347800	Jul 15, 2010 (132)
19	1000GENOMES	ss243622134	Jul 15, 2010 (132)
20	BL	ss255419895	May 09, 2011 (134)
21	GMI	ss282867905	May 04, 2012 (137)
22	GMI	ss287226606	Apr 25, 2013 (138)
23	PJP	ss292060455	May 09, 2011 (134)
24	TISHKOFF	ss565450803	Apr 25, 2013 (138)
25	SSMP	ss661269074	Apr 25, 2013 (138)
26	EVA-GONL	ss993404741	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1081263184	Aug 21, 2014 (142)
28	1000GENOMES	ss1359814223	Aug 21, 2014 (142)
29	DDI	ss1428118239	Apr 01, 2015 (144)
30	HAMMER_LAB	ss1808913112	Sep 08, 2015 (146)
31	WEILL_CORNELL_DGM	ss1936874663	Feb 12, 2016 (147)
32	ILLUMINA	ss1959780115	Feb 12, 2016 (147)
33	GENOMED	ss1968448556	Jul 19, 2016 (147)
34	JJLAB	ss2029207826	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2157701026	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2629099634	Nov 08, 2017 (151)
37	GRF	ss2702268851	Nov 08, 2017 (151)
38	GNOMAD	ss2953236370	Nov 08, 2017 (151)
39	SWEGEN	ss3016021004	Nov 08, 2017 (151)
40	ILLUMINA	ss3021815830	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3028428021	Nov 08, 2017 (151)
42	CSHL	ss3351876080	Nov 08, 2017 (151)
43	URBANLAB	ss3650720194	Oct 12, 2018 (152)
44	ILLUMINA	ss3652234579	Oct 12, 2018 (152)
45	EVA_DECODE	ss3701059567	Jul 13, 2019 (153)
46	ACPOP	ss3742278700	Jul 13, 2019 (153)
47	EVA	ss3755020490	Jul 13, 2019 (153)
48	PACBIO	ss3788286965	Jul 13, 2019 (153)
49	PACBIO	ss3793230180	Jul 13, 2019 (153)
50	PACBIO	ss3798116369	Jul 13, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3820282449	Jul 13, 2019 (153)
52	EVA	ss3835014424	Apr 27, 2020 (154)
53	EVA	ss3841120262	Apr 27, 2020 (154)
54	EVA	ss3846619402	Apr 27, 2020 (154)
55	SGDP_PRJ	ss3886374503	Apr 27, 2020 (154)
56	KRGDB	ss3936174407	Apr 27, 2020 (154)
57	KOGIC	ss3979447883	Apr 27, 2020 (154)
58	TOMMO_GENOMICS	ss5223808476	Apr 26, 2021 (155)
59	1000G_HIGH_COVERAGE	ss5304188371	Oct 16, 2022 (156)
60	EVA	ss5429477328	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5497122353	Oct 16, 2022 (156)
62	SANFORD_IMAGENETICS	ss5660680374	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5780472567	Oct 16, 2022 (156)
64	YY_MCH	ss5816793288	Oct 16, 2022 (156)
65	EVA	ss5827127467	Oct 16, 2022 (156)
66	EVA	ss5851927845	Oct 16, 2022 (156)
67	EVA	ss5872880837	Oct 16, 2022 (156)
68	EVA	ss5952080949	Oct 16, 2022 (156)
69	1000Genomes	NC_000018.9 - 69805	Oct 12, 2018 (152)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515809333 (NC_000018.10:69804:C:A 1/139978) Row 515809334 (NC_000018.10:69804:C:T 89855/139068)	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515809333 (NC_000018.10:69804:C:A 1/139978) Row 515809334 (NC_000018.10:69804:C:T 89855/139068)	-	Apr 26, 2021 (155)
72	Genome of the Netherlands Release 5	NC_000018.9 - 69805	Apr 27, 2020 (154)
73	HapMap	NC_000018.10 - 69805	Apr 27, 2020 (154)
74	KOREAN population from KRGDB	NC_000018.9 - 69805	Apr 27, 2020 (154)
75	Korean Genome Project	NC_000018.10 - 69805	Apr 27, 2020 (154)
76	Northern Sweden	NC_000018.9 - 69805	Jul 13, 2019 (153)
77	Qatari	NC_000018.9 - 69805	Apr 27, 2020 (154)
78	SGDP_PRJ	NC_000018.9 - 69805	Apr 27, 2020 (154)
79	Siberian	NC_000018.9 - 69805	Apr 27, 2020 (154)
80	8.3KJPN	NC_000018.9 - 69805	Apr 26, 2021 (155)
81	14KJPN	NC_000018.10 - 69805	Oct 16, 2022 (156)
82	A Vietnamese Genetic Variation Database	NC_000018.9 - 69805	Jul 13, 2019 (153)
83	ALFA	NC_000018.10 - 69805	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)
rs60333742	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2953236370	NC_000018.9:69804:C:A	NC_000018.10:69804:C:A	(self)
4988730925	NC_000018.10:69804:C:A	NC_000018.10:69804:C:A	(self)
ss81059137, ss81588138, ss110009188, ss113928637, ss117754881, ss167621777, ss168827470, ss171368176, ss202871654, ss208090909, ss255419895, ss282867905, ss287226606, ss292060455	NC_000018.8:59804:C:T	NC_000018.10:69804:C:T	(self)
73100081, 18041282, 43351801, 15563565, 18916585, 38391483, 10217380, 81777783, 8951050, ss227692412, ss237347800, ss243622134, ss565450803, ss661269074, ss993404741, ss1081263184, ss1359814223, ss1428118239, ss1808913112, ss1936874663, ss1959780115, ss1968448556, ss2029207826, ss2157701026, ss2629099634, ss2702268851, ss2953236370, ss3016021004, ss3021815830, ss3351876080, ss3652234579, ss3742278700, ss3755020490, ss3788286965, ss3793230180, ss3798116369, ss3835014424, ss3841120262, ss3886374503, ss3936174407, ss5223808476, ss5429477328, ss5660680374, ss5827127467, ss5952080949	NC_000018.9:69804:C:T	NC_000018.10:69804:C:T	(self)
1536882, 35825884, 114309671, 4988730925, ss3028428021, ss3650720194, ss3701059567, ss3820282449, ss3846619402, ss3979447883, ss5304188371, ss5497122353, ss5780472567, ss5816793288, ss5851927845, ss5872880837	NC_000018.10:69804:C:T	NC_000018.10:69804:C:T	(self)
ss10905780, ss12438775	NT_010859.12:59804:C:T	NC_000018.10:69804:C:T	(self)
ss69204329, ss106524396, ss143118765, ss154729437	NT_010859.14:59804:C:T	NC_000018.10:69804: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 rs6506356

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

rs6506356