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dbSNP Short Genetic Variations

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.

rs9633306

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:183669217 (GRCh38.p13) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.076924 (20361/264690, TOPMED)
T=0.073228 (10262/140138, GnomAD)
T=0.05298 (1239/23386, ALFA) (+ 14 more)
T=0.01420 (238/16760, 8.3KJPN)
T=0.0978 (490/5008, 1000G)
T=0.0234 (105/4480, Estonian)
T=0.0288 (111/3854, ALSPAC)
T=0.0264 (98/3708, TWINSUK)
T=0.0266 (78/2930, KOREAN)
T=0.0893 (169/1892, HapMap)
T=0.032 (32/998, GoNL)
T=0.014 (9/626, Chileans)
T=0.032 (19/600, NorthernSweden)
T=0.060 (13/216, Qatari)
C=0.48 (28/58, SGDP_PRJ)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGL1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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.p13 chr 1 NC_000001.11:g.183669217C>T
GRCh37.p13 chr 1 NC_000001.10:g.183638352C>T
Gene: RGL1, ral guanine nucleotide dissociation stimulator like 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RGL1 transcript variant 2 NM_001297669.3:c.-142-281…

NM_001297669.3:c.-142-28186C>T

N/A Intron Variant
RGL1 transcript variant 3 NM_001297670.3:c.-33+3271…

NM_001297670.3:c.-33+32716C>T

N/A Intron Variant
RGL1 transcript variant 1 NM_015149.6:c.-33+32716C>T N/A Intron Variant
RGL1 transcript variant 4 NM_001297671.3:c. N/A Genic Upstream Transcript Variant
RGL1 transcript variant 5 NM_001297672.3:c. N/A Genic Upstream Transcript Variant
RGL1 transcript variant X1 XM_011509339.3:c.-142-281…

XM_011509339.3:c.-142-28186C>T

N/A Intron Variant
RGL1 transcript variant X2 XM_011509341.1:c.-33+3271…

XM_011509341.1:c.-33+32716C>T

N/A Intron Variant
RGL1 transcript variant X4 XM_011509342.2:c.-33+3271…

XM_011509342.2:c.-33+32716C>T

N/A Intron Variant
RGL1 transcript variant X3 XM_017000756.2:c. N/A Genic Upstream Transcript Variant
Help

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 23386 C=0.94702 T=0.05298
European Sub 17398 C=0.97253 T=0.02747
African Sub 3622 C=0.8181 T=0.1819
African Others Sub 126 C=0.778 T=0.222
African American Sub 3496 C=0.8195 T=0.1805
Asian Sub 160 C=0.881 T=0.119
East Asian Sub 102 C=0.882 T=0.118
Other Asian Sub 58 C=0.88 T=0.12
Latin American 1 Sub 212 C=0.934 T=0.066
Latin American 2 Sub 754 C=0.985 T=0.015
South Asian Sub 110 C=0.973 T=0.027
Other Sub 1130 C=0.9513 T=0.0487


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.923076 T=0.076924
gnomAD - Genomes Global Study-wide 140138 C=0.926772 T=0.073228
gnomAD - Genomes European Sub 75912 C=0.97103 T=0.02897
gnomAD - Genomes African Sub 41962 C=0.83175 T=0.16825
gnomAD - Genomes American Sub 13658 C=0.95944 T=0.04056
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9859 T=0.0141
gnomAD - Genomes East Asian Sub 3132 C=0.9154 T=0.0846
gnomAD - Genomes Other Sub 2150 C=0.9363 T=0.0637
8.3KJPN JAPANESE Study-wide 16760 C=0.98580 T=0.01420
1000Genomes Global Study-wide 5008 C=0.9022 T=0.0978
1000Genomes African Sub 1322 C=0.8132 T=0.1868
1000Genomes East Asian Sub 1008 C=0.8909 T=0.1091
1000Genomes Europe Sub 1006 C=0.9672 T=0.0328
1000Genomes South Asian Sub 978 C=0.929 T=0.071
1000Genomes American Sub 694 C=0.955 T=0.045
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9766 T=0.0234
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9712 T=0.0288
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9736 T=0.0264
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.9734 T=0.0266
HapMap Global Study-wide 1892 C=0.9107 T=0.0893
HapMap American Sub 770 C=0.936 T=0.064
HapMap African Sub 692 C=0.841 T=0.159
HapMap Asian Sub 254 C=0.976 T=0.024
HapMap Europe Sub 176 C=0.977 T=0.023
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.968 T=0.032
Chileans Chilean Study-wide 626 C=0.986 T=0.014
Northern Sweden ACPOP Study-wide 600 C=0.968 T=0.032
Qatari Global Study-wide 216 C=0.940 T=0.060
SGDP_PRJ Global Study-wide 58 C=0.48 T=0.52
Siberian Global Study-wide 6 C=0.5 T=0.5
Help

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= T
GRCh38.p13 chr 1 NC_000001.11:g.183669217= NC_000001.11:g.183669217C>T
GRCh37.p13 chr 1 NC_000001.10:g.183638352= NC_000001.10:g.183638352C>T
RGL1 transcript variant 2 NM_001297669.3:c.-142-28186= NM_001297669.3:c.-142-28186C>T
RGL1 transcript variant 3 NM_001297670.3:c.-33+32716= NM_001297670.3:c.-33+32716C>T
RGL1 transcript NM_015149.3:c.-33+32716= NM_015149.3:c.-33+32716C>T
RGL1 transcript variant 1 NM_015149.6:c.-33+32716= NM_015149.6:c.-33+32716C>T
RGL1 transcript variant X2 XM_005245011.1:c.-33+32716= XM_005245011.1:c.-33+32716C>T
RGL1 transcript variant X3 XM_005245012.1:c.-142-28186= XM_005245012.1:c.-142-28186C>T
RGL1 transcript variant X1 XM_011509339.3:c.-142-28186= XM_011509339.3:c.-142-28186C>T
RGL1 transcript variant X2 XM_011509341.1:c.-33+32716= XM_011509341.1:c.-33+32716C>T
RGL1 transcript variant X4 XM_011509342.2:c.-33+32716= XM_011509342.2:c.-33+32716C>T
Help

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#.

49 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13405692 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17356647 Feb 27, 2004 (123)
3 SC_SNP ss18101832 Feb 27, 2004 (123)
4 SC_SNP ss19058884 Feb 27, 2004 (123)
5 ABI ss41081466 Mar 13, 2006 (126)
6 AFFY ss66431195 Nov 29, 2006 (127)
7 AFFY ss76204228 Dec 08, 2007 (130)
8 KRIBB_YJKIM ss82604241 Dec 14, 2007 (130)
9 ENSEMBL ss161196168 Dec 01, 2009 (131)
10 AFFY ss172801145 Jun 24, 2010 (142)
11 1000GENOMES ss210687608 Jul 14, 2010 (132)
12 1000GENOMES ss218759108 Jul 14, 2010 (132)
13 1000GENOMES ss230811574 Jul 14, 2010 (132)
14 1000GENOMES ss238441572 Jul 15, 2010 (132)
15 GMI ss284187467 Apr 25, 2013 (138)
16 PJP ss290678315 May 09, 2011 (134)
17 TISHKOFF ss554931896 Apr 25, 2013 (138)
18 SSMP ss648547185 Apr 25, 2013 (138)
19 EVA-GONL ss975893638 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1068423128 Aug 21, 2014 (142)
21 1000GENOMES ss1293729804 Aug 21, 2014 (142)
22 EVA_DECODE ss1585285422 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1601645370 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1644639403 Apr 01, 2015 (144)
25 EVA_SVP ss1712387509 Apr 01, 2015 (144)
26 HAMMER_LAB ss1795385111 Sep 08, 2015 (146)
27 WEILL_CORNELL_DGM ss1919129239 Feb 12, 2016 (147)
28 JJLAB ss2020081358 Sep 14, 2016 (149)
29 USC_VALOUEV ss2148109536 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2168185260 Dec 20, 2016 (150)
31 TOPMED ss2330740931 Dec 20, 2016 (150)
32 GRF ss2698091897 Nov 08, 2017 (151)
33 GNOMAD ss2763592523 Nov 08, 2017 (151)
34 AFFY ss2985532516 Nov 08, 2017 (151)
35 SWEGEN ss2988074711 Nov 08, 2017 (151)
36 TOPMED ss3097359159 Nov 08, 2017 (151)
37 CSHL ss3343804956 Nov 08, 2017 (151)
38 EGCUT_WGS ss3656025022 Jul 12, 2019 (153)
39 EVA_DECODE ss3688174241 Jul 12, 2019 (153)
40 ACPOP ss3727660081 Jul 12, 2019 (153)
41 EVA ss3747053842 Jul 12, 2019 (153)
42 KHV_HUMAN_GENOMES ss3800054581 Jul 12, 2019 (153)
43 EVA ss3826528617 Apr 25, 2020 (154)
44 EVA ss3836660735 Apr 25, 2020 (154)
45 EVA ss3842071117 Apr 25, 2020 (154)
46 SGDP_PRJ ss3850418841 Apr 25, 2020 (154)
47 KRGDB ss3895680909 Apr 25, 2020 (154)
48 TOPMED ss4475390245 Apr 25, 2021 (155)
49 TOMMO_GENOMICS ss5147388422 Apr 25, 2021 (155)
50 1000Genomes NC_000001.10 - 183638352 Oct 11, 2018 (152)
51 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 183638352 Oct 11, 2018 (152)
52 Chileans NC_000001.10 - 183638352 Apr 25, 2020 (154)
53 Genetic variation in the Estonian population NC_000001.10 - 183638352 Oct 11, 2018 (152)
54 gnomAD - Genomes NC_000001.11 - 183669217 Apr 25, 2021 (155)
55 Genome of the Netherlands Release 5 NC_000001.10 - 183638352 Apr 25, 2020 (154)
56 HapMap NC_000001.11 - 183669217 Apr 25, 2020 (154)
57 KOREAN population from KRGDB NC_000001.10 - 183638352 Apr 25, 2020 (154)
58 Northern Sweden NC_000001.10 - 183638352 Jul 12, 2019 (153)
59 Qatari NC_000001.10 - 183638352 Apr 25, 2020 (154)
60 SGDP_PRJ NC_000001.10 - 183638352 Apr 25, 2020 (154)
61 Siberian NC_000001.10 - 183638352 Apr 25, 2020 (154)
62 8.3KJPN NC_000001.10 - 183638352 Apr 25, 2021 (155)
63 TopMed NC_000001.11 - 183669217 Apr 25, 2021 (155)
64 UK 10K study - Twins NC_000001.10 - 183638352 Oct 11, 2018 (152)
65 ALFA NC_000001.11 - 183669217 Apr 25, 2021 (155)
Help

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)
rs10797899 Oct 07, 2004 (123)
rs56623564 May 27, 2008 (130)
rs57520787 Feb 27, 2009 (130)
rs111185763 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66431195, ss76204228, ss172801145, ss210687608, ss284187467, ss290678315, ss1585285422, ss1712387509 NC_000001.9:181904974:C:T NC_000001.11:183669216:C:T (self)
4550120, 2494727, 26849, 1763270, 1083630, 2858303, 944946, 1171169, 2435821, 625890, 5357729, 2494727, ss218759108, ss230811574, ss238441572, ss554931896, ss648547185, ss975893638, ss1068423128, ss1293729804, ss1601645370, ss1644639403, ss1795385111, ss1919129239, ss2020081358, ss2148109536, ss2330740931, ss2698091897, ss2763592523, ss2985532516, ss2988074711, ss3343804956, ss3656025022, ss3727660081, ss3747053842, ss3826528617, ss3836660735, ss3850418841, ss3895680909, ss5147388422 NC_000001.10:183638351:C:T NC_000001.11:183669216:C:T (self)
32843878, 219271, 24482109, 38996580, 2210244491, ss2168185260, ss3097359159, ss3688174241, ss3800054581, ss3842071117, ss4475390245 NC_000001.11:183669216:C:T NC_000001.11:183669216:C:T (self)
ss13405692 NT_004487.15:12431388:C:T NC_000001.11:183669216:C:T (self)
ss17356647, ss18101832 NT_004487.16:12686848:C:T NC_000001.11:183669216:C:T (self)
ss19058884, ss41081466, ss82604241, ss161196168 NT_004487.19:35126993:C:T NC_000001.11:183669216:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs9633306

Help

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.

Software version is: 2.0.1.post596+ae089ad