Name: rs9953637
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.

rs9953637

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:59318 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.389085 (102987/264690, TOPMED)
C=0.01391 (393/28254, 14KJPN)
C=0.01438 (241/16756, 8.3KJPN) (+ 14 more)
T=0.4620 (4259/9218, ALFA)
C=0.3112 (1993/6404, 1000G_30x)
C=0.2979 (1492/5008, 1000G)
C=0.4510 (1738/3854, ALSPAC)
C=0.4302 (1595/3708, TWINSUK)
C=0.0266 (78/2928, KOREAN)
C=0.0267 (49/1832, Korea1K)
C=0.399 (398/998, GoNL)
C=0.358 (215/600, NorthernSweden)
C=0.184 (91/494, SGDP_PRJ)
C=0.421 (91/216, Qatari)
C=0.042 (9/216, Vietnamese)
C=0.02 (2/88, HapMap)
C=0.33 (13/40, GENOME_DK)

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	9218	C=0.5380	A=0.0000, G=0.0000, T=0.4620
European	Sub	8312	C=0.5156	A=0.0000, G=0.0000, T=0.4844
African	Sub	482	C=0.803	A=0.000, G=0.000, T=0.197
African Others	Sub	12	C=0.67	A=0.00, G=0.00, T=0.33
African American	Sub	470	C=0.806	A=0.000, G=0.000, T=0.194
Asian	Sub	4	C=0.0	A=0.0, G=0.0, T=1.0
East Asian	Sub	2	C=0.0	A=0.0, G=0.0, T=1.0
Other Asian	Sub	2	C=0.0	A=0.0, G=0.0, T=1.0
Latin American 1	Sub	32	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 2	Sub	70	C=1.00	A=0.00, G=0.00, T=0.00
South Asian	Sub	14	C=0.93	A=0.00, G=0.00, T=0.07
Other	Sub	304	C=0.562	A=0.000, G=0.000, T=0.438

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=0.389085	T=0.610915
14KJPN	JAPANESE	Study-wide	28254	C=0.01391	T=0.98609
8.3KJPN	JAPANESE	Study-wide	16756	C=0.01438	T=0.98562
Allele Frequency Aggregator	Total	Global	9218	C=0.5380	A=0.0000, G=0.0000, T=0.4620
Allele Frequency Aggregator	European	Sub	8312	C=0.5156	A=0.0000, G=0.0000, T=0.4844
Allele Frequency Aggregator	African	Sub	482	C=0.803	A=0.000, G=0.000, T=0.197
Allele Frequency Aggregator	Other	Sub	304	C=0.562	A=0.000, G=0.000, T=0.438
Allele Frequency Aggregator	Latin American 2	Sub	70	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	32	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	14	C=0.93	A=0.00, G=0.00, T=0.07
Allele Frequency Aggregator	Asian	Sub	4	C=0.0	A=0.0, G=0.0, T=1.0
1000Genomes_30x	Global	Study-wide	6404	C=0.3112	T=0.6888
1000Genomes_30x	African	Sub	1786	C=0.3751	T=0.6249
1000Genomes_30x	Europe	Sub	1266	C=0.4463	T=0.5537
1000Genomes_30x	South Asian	Sub	1202	C=0.3270	T=0.6730
1000Genomes_30x	East Asian	Sub	1170	C=0.0171	T=0.9829
1000Genomes_30x	American	Sub	980	C=0.352	T=0.648
1000Genomes	Global	Study-wide	5008	C=0.2979	T=0.7021
1000Genomes	African	Sub	1322	C=0.3555	T=0.6445
1000Genomes	East Asian	Sub	1008	C=0.0169	T=0.9831
1000Genomes	Europe	Sub	1006	C=0.4414	T=0.5586
1000Genomes	South Asian	Sub	978	C=0.317	T=0.683
1000Genomes	American	Sub	694	C=0.362	T=0.638
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4510	T=0.5490
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4302	T=0.5698
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.0266	A=0.0000, T=0.9734
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=0.399	T=0.601
Northern Sweden	ACPOP	Study-wide	600	C=0.358	T=0.642
SGDP_PRJ	Global	Study-wide	494	C=0.184	T=0.816
Qatari	Global	Study-wide	216	C=0.421	T=0.579
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.042	T=0.958
HapMap	Global	Study-wide	88	C=0.02	T=0.98
HapMap	Asian	Sub	88	C=0.02	T=0.98
The Danish reference pan genome	Danish	Study-wide	40	C=0.33	T=0.68

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.59318C>A
GRCh38.p14 chr 18	NC_000018.10:g.59318C>G
GRCh38.p14 chr 18	NC_000018.10:g.59318C>T
GRCh37.p13 chr 18	NC_000018.9:g.59318C>A
GRCh37.p13 chr 18	NC_000018.9:g.59318C>G
GRCh37.p13 chr 18	NC_000018.9:g.59318C>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
TUBB8B transcript variant 2	NM_001389609.1:c.-428-876… NM_001389609.1:c.-428-8769G>T	N/A	Intron Variant
TUBB8B transcript variant 3	NM_001389610.1:c.-288-876… NM_001389610.1:c.-288-8769G>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.-842-876… XM_024451143.2:c.-842-8769G>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	G	T
GRCh38.p14 chr 18	NC_000018.10:g.59318=	NC_000018.10:g.59318C>A	NC_000018.10:g.59318C>G	NC_000018.10:g.59318C>T
GRCh37.p13 chr 18	NC_000018.9:g.59318=	NC_000018.9:g.59318C>A	NC_000018.9:g.59318C>G	NC_000018.9:g.59318C>T
TUBB8B transcript variant 2	NM_001389609.1:c.-428-8769=	NM_001389609.1:c.-428-8769G>T	NM_001389609.1:c.-428-8769G>C	NM_001389609.1:c.-428-8769G>A
TUBB8B transcript variant 3	NM_001389610.1:c.-288-8769=	NM_001389610.1:c.-288-8769G>T	NM_001389610.1:c.-288-8769G>C	NM_001389610.1:c.-288-8769G>A
TUBB8B transcript variant X1	XM_024451143.2:c.-842-8769=	XM_024451143.2:c.-842-8769G>T	XM_024451143.2:c.-842-8769G>C	XM_024451143.2:c.-842-8769G>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#.

60 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13793828	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss20051578	Feb 28, 2004 (126)
3	HGSV	ss82637923	Dec 14, 2007 (130)
4	BGI	ss106524392	Feb 04, 2009 (130)
5	1000GENOMES	ss110009148	Jan 24, 2009 (130)
6	ILLUMINA-UK	ss117754863	Dec 01, 2009 (131)
7	ENSEMBL	ss136403353	Dec 01, 2009 (131)
8	GMI	ss154729221	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss168827300	Jul 04, 2010 (132)
10	BUSHMAN	ss202871554	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss208103935	Jul 04, 2010 (132)
12	1000GENOMES	ss237347748	Jul 15, 2010 (132)
13	GMI	ss282867845	May 04, 2012 (137)
14	GMI	ss287226589	Apr 25, 2013 (138)
15	PJP	ss292060448	May 09, 2011 (134)
16	SSMP	ss661268977	Apr 25, 2013 (138)
17	EVA-GONL	ss993404646	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1081263141	Aug 21, 2014 (142)
19	1000GENOMES	ss1359813827	Aug 21, 2014 (142)
20	DDI	ss1428118216	Apr 01, 2015 (144)
21	EVA_GENOME_DK	ss1578273090	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1636241318	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1679235351	Apr 01, 2015 (144)
24	EVA_DECODE	ss1697456151	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1808913060	Sep 08, 2015 (146)
26	WEILL_CORNELL_DGM	ss1936874569	Feb 12, 2016 (147)
27	GENOMED	ss1968448537	Jul 19, 2016 (147)
28	JJLAB	ss2029207789	Sep 14, 2016 (149)
29	SYSTEMSBIOZJU	ss2629099620	Nov 08, 2017 (151)
30	GRF	ss2702268790	Nov 08, 2017 (151)
31	GNOMAD	ss2953235125	Nov 08, 2017 (151)
32	SWEGEN	ss3016020734	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3028428000	Nov 08, 2017 (151)
34	CSHL	ss3351875984	Nov 08, 2017 (151)
35	URBANLAB	ss3650720177	Oct 12, 2018 (152)
36	ACPOP	ss3742278625	Jul 13, 2019 (153)
37	EVA	ss3755020377	Jul 13, 2019 (153)
38	PACBIO	ss3788286955	Jul 13, 2019 (153)
39	PACBIO	ss3793230172	Jul 13, 2019 (153)
40	PACBIO	ss3798116361	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3820282346	Jul 13, 2019 (153)
42	EVA	ss3835014386	Apr 27, 2020 (154)
43	EVA	ss3841120254	Apr 27, 2020 (154)
44	EVA	ss3846619395	Apr 27, 2020 (154)
45	SGDP_PRJ	ss3886374322	Apr 27, 2020 (154)
46	KRGDB	ss3936174067	Apr 27, 2020 (154)
47	KOGIC	ss3979447624	Apr 27, 2020 (154)
48	TOPMED	ss5046063083	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5223808034	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5304187928	Oct 16, 2022 (156)
51	EVA	ss5429476720	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5497122115	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5608391572	Oct 16, 2022 (156)
54	SANFORD_IMAGENETICS	ss5660680177	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5780471883	Oct 16, 2022 (156)
56	YY_MCH	ss5816793160	Oct 16, 2022 (156)
57	EVA	ss5827127316	Oct 16, 2022 (156)
58	EVA	ss5851927818	Oct 16, 2022 (156)
59	EVA	ss5872880449	Oct 16, 2022 (156)
60	EVA	ss5952080781	Oct 16, 2022 (156)
61	1000Genomes	NC_000018.9 - 59318	Oct 12, 2018 (152)
62	1000Genomes_30x	NC_000018.10 - 59318	Oct 16, 2022 (156)
63	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 59318	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000018.9 - 59318	Apr 27, 2020 (154)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515806677 (NC_000018.10:59317:C:A 8/139270) Row 515806678 (NC_000018.10:59317:C:T 84613/138892)	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515806677 (NC_000018.10:59317:C:A 8/139270) Row 515806678 (NC_000018.10:59317:C:T 84613/138892)	-	Apr 26, 2021 (155)
67	Genome of the Netherlands Release 5	NC_000018.9 - 59318	Apr 27, 2020 (154)
68	HapMap	NC_000018.10 - 59318	Apr 27, 2020 (154)
69	KOREAN population from KRGDB	NC_000018.9 - 59318	Apr 27, 2020 (154)
70	Korean Genome Project	NC_000018.10 - 59318	Apr 27, 2020 (154)
71	Northern Sweden	NC_000018.9 - 59318	Jul 13, 2019 (153)
72	Qatari	NC_000018.9 - 59318	Apr 27, 2020 (154)
73	SGDP_PRJ	NC_000018.9 - 59318	Apr 27, 2020 (154)
74	8.3KJPN	NC_000018.9 - 59318	Apr 26, 2021 (155)
75	14KJPN	NC_000018.10 - 59318	Oct 16, 2022 (156)
76	TopMed	NC_000018.10 - 59318	Apr 26, 2021 (155)
77	UK 10K study - Twins	NC_000018.9 - 59318	Oct 12, 2018 (152)
78	A Vietnamese Genetic Variation Database	NC_000018.9 - 59318	Jul 13, 2019 (153)
79	ALFA	NC_000018.10 - 59318	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)
rs12605799	Mar 11, 2006 (126)
rs57861987	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43351461, ss3936174067	NC_000018.9:59317:C:A	NC_000018.10:59317:C:A	(self)
6340408860	NC_000018.10:59317:C:A	NC_000018.10:59317:C:A	(self)
6340408860	NC_000018.10:59317:C:G	NC_000018.10:59317:C:G	(self)
ss82637923, ss110009148, ss117754863, ss168827300, ss202871554, ss208103935, ss282867845, ss287226589, ss292060448, ss1697456151	NC_000018.8:49317:C:T	NC_000018.10:59317:C:T	(self)
73099668, 40501426, 4470532, 18041187, 43351461, 15563490, 18916491, 38391302, 81777341, 40501426, 8951013, ss237347748, ss661268977, ss993404646, ss1081263141, ss1359813827, ss1428118216, ss1578273090, ss1636241318, ss1679235351, ss1808913060, ss1936874569, ss1968448537, ss2029207789, ss2629099620, ss2702268790, ss2953235125, ss3016020734, ss3351875984, ss3742278625, ss3755020377, ss3788286955, ss3793230172, ss3798116361, ss3835014386, ss3841120254, ss3886374322, ss3936174067, ss5223808034, ss5429476720, ss5660680177, ss5827127316, ss5952080781	NC_000018.9:59317:C:T	NC_000018.10:59317:C:T	(self)
95917507, 1536878, 35825625, 114308987, 261608746, 6340408860, ss3028428000, ss3650720177, ss3820282346, ss3846619395, ss3979447624, ss5046063083, ss5304187928, ss5497122115, ss5608391572, ss5780471883, ss5816793160, ss5851927818, ss5872880449	NC_000018.10:59317:C:T	NC_000018.10:59317:C:T	(self)
ss13793828, ss20051578	NT_010859.13:49317:C:T	NC_000018.10:59317:C:T	(self)
ss106524392, ss136403353, ss154729221	NT_010859.14:49317:C:T	NC_000018.10:59317: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 rs9953637

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

rs9953637