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dbSNP Short Genetic Variations

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.

rs7150

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr19:541685 (GRCh38.p12) 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=0.34672 (43537/125568, TOPMED)
T=0.3684 (11525/31280, GnomAD)
T=0.368 (1841/5008, 1000G) (+ 5 more)
C=0.498 (2231/4480, Estonian)
T=0.457 (1762/3854, ALSPAC)
T=0.449 (1665/3708, TWINSUK)
C=0.48 (286/600, NorthernSweden)
C=0.50 (106/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDC34 : 3 Prime UTR 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.p12 chr 19 NC_000019.10:g.541685C>T
GRCh37.p13 chr 19 NC_000019.9:g.541685C>T
Gene: CDC34, cell division cycle 34 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDC34 transcript NM_004359.2:c. N/A 3 Prime UTR Variant
CDC34 transcript variant X2 XM_006722952.2:c. N/A 3 Prime UTR Variant
CDC34 transcript variant X1 XM_005259690.3:c. N/A Genic Downstream 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
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 125568 C=0.65328 T=0.34672
gnomAD - Genomes Global Study-wide 31280 C=0.6316 T=0.3684
gnomAD - Genomes European Sub 18836 C=0.5242 T=0.4758
gnomAD - Genomes African Sub 8672 C=0.912 T=0.088
gnomAD - Genomes East Asian Sub 1550 C=0.453 T=0.547
gnomAD - Genomes Other Sub 1086 C=0.574 T=0.426
gnomAD - Genomes American Sub 846 C=0.55 T=0.45
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.62 T=0.38
1000Genomes Global Study-wide 5008 C=0.632 T=0.368
1000Genomes African Sub 1322 C=0.974 T=0.026
1000Genomes East Asian Sub 1008 C=0.411 T=0.589
1000Genomes Europe Sub 1006 C=0.550 T=0.450
1000Genomes South Asian Sub 978 C=0.60 T=0.40
1000Genomes American Sub 694 C=0.47 T=0.53
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.498 T=0.502
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.543 T=0.457
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.551 T=0.449
Northern Sweden ACPOP Study-wide 600 C=0.48 T=0.52
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.50 T=0.50
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 Note
GRCh38.p12 chr 19 NC_000019.10:g.541685= NC_000019.10:g.541685C>T
GRCh37.p13 chr 19 NC_000019.9:g.541685= NC_000019.9:g.541685C>T
CDC34 transcript variant X2 XM_006722952.2:c.*300= XM_006722952.2:c.*300C>T
CDC34 transcript NM_004359.2:c.*133= NM_004359.2:c.*133C>T
CDC34 transcript NM_004359.1:c.*133= NM_004359.1:c.*133C>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#.

70 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss8946 Sep 19, 2000 (52)
2 LEE ss1524388 Oct 04, 2000 (86)
3 LEE ss4415296 May 29, 2002 (106)
4 CGAP-GAI ss16263873 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss16804400 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19406163 Feb 27, 2004 (120)
7 SSAHASNP ss21509788 Apr 05, 2004 (121)
8 PERLEGEN ss24190406 Sep 20, 2004 (123)
9 EGP_SNPS ss24821248 Sep 20, 2004 (123)
10 ABI ss44188619 Mar 14, 2006 (126)
11 EGP_SNPS ss66862458 Nov 29, 2006 (127)
12 SI_EXO ss69378624 May 16, 2007 (127)
13 BCMHGSC_JDW ss90877483 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss96284540 Feb 03, 2009 (130)
15 BGI ss106041361 Feb 03, 2009 (130)
16 1000GENOMES ss110967068 Jan 25, 2009 (130)
17 ENSEMBL ss132769050 Dec 01, 2009 (131)
18 ENSEMBL ss137509373 Dec 01, 2009 (131)
19 GMI ss155511163 Dec 01, 2009 (131)
20 ILLUMINA ss160853009 Dec 01, 2009 (131)
21 ILLUMINA ss168981152 Jul 04, 2010 (132)
22 BUSHMAN ss203571096 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss208436567 Jul 04, 2010 (132)
24 1000GENOMES ss237573943 Jul 15, 2010 (132)
25 1000GENOMES ss243801911 Jul 15, 2010 (132)
26 BL ss255422448 May 09, 2011 (134)
27 GMI ss283093537 May 04, 2012 (137)
28 GMI ss287332188 Apr 25, 2013 (138)
29 PJP ss292171647 May 09, 2011 (134)
30 ILLUMINA ss482488460 Sep 08, 2015 (146)
31 ILLUMINA ss536522295 Sep 08, 2015 (146)
32 TISHKOFF ss565800719 Apr 25, 2013 (138)
33 SSMP ss661651546 Apr 25, 2013 (138)
34 EVA-GONL ss993998979 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1081704363 Aug 21, 2014 (142)
36 1000GENOMES ss1362011966 Aug 21, 2014 (142)
37 DDI ss1428307436 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1578520323 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1637409896 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1680403929 Apr 01, 2015 (144)
41 EVA_DECODE ss1698062031 Apr 01, 2015 (144)
42 EVA_MGP ss1711490469 Apr 01, 2015 (144)
43 WEILL_CORNELL_DGM ss1937474172 Feb 12, 2016 (147)
44 GENOMED ss1968591195 Jul 19, 2016 (147)
45 JJLAB ss2029513022 Sep 14, 2016 (149)
46 USC_VALOUEV ss2158022618 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2223600412 Dec 20, 2016 (150)
48 TOPMED ss2389009183 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2629254968 Nov 08, 2017 (151)
50 ILLUMINA ss2635080761 Nov 08, 2017 (151)
51 GRF ss2702627194 Nov 08, 2017 (151)
52 GNOMAD ss2959446908 Nov 08, 2017 (151)
53 AFFY ss2985763025 Nov 08, 2017 (151)
54 SWEGEN ss3016937542 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3028589037 Nov 08, 2017 (151)
56 TOPMED ss3285596460 Nov 08, 2017 (151)
57 CSHL ss3352153584 Nov 08, 2017 (151)
58 ILLUMINA ss3627868812 Oct 12, 2018 (152)
59 ILLUMINA ss3636408475 Oct 12, 2018 (152)
60 ILLUMINA ss3638210295 Oct 12, 2018 (152)
61 OMUKHERJEE_ADBS ss3646525556 Oct 12, 2018 (152)
62 URBANLAB ss3650849639 Oct 12, 2018 (152)
63 EGCUT_WGS ss3683788148 Jul 13, 2019 (153)
64 EVA_DECODE ss3702157849 Jul 13, 2019 (153)
65 ACPOP ss3742775439 Jul 13, 2019 (153)
66 EVA ss3755707436 Jul 13, 2019 (153)
67 PACBIO ss3788443494 Jul 13, 2019 (153)
68 PACBIO ss3793367124 Jul 13, 2019 (153)
69 PACBIO ss3798253728 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3820961637 Jul 13, 2019 (153)
71 1000Genomes NC_000019.9 - 541685 Oct 12, 2018 (152)
72 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 541685 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000019.9 - 541685 Oct 12, 2018 (152)
74 gnomAD - Genomes NC_000019.9 - 541685 Jul 13, 2019 (153)
75 Northern Sweden NC_000019.9 - 541685 Jul 13, 2019 (153)
76 TopMed NC_000019.10 - 541685 Oct 12, 2018 (152)
77 UK 10K study - Twins NC_000019.9 - 541685 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000019.9 - 541685 Jul 13, 2019 (153)
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)
rs3190366 Jul 03, 2002 (106)
rs17762393 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90877483, ss110967068, ss203571096, ss208436567, ss255422448, ss283093537, ss287332188, ss292171647, ss1698062031, ss2635080761 NC_000019.8:492684:C:T NC_000019.10:541684:C:T (self)
75376558, 41786377, 29526396, 205709308, 16060304, 41786377, 9241397, ss237573943, ss243801911, ss482488460, ss536522295, ss565800719, ss661651546, ss993998979, ss1081704363, ss1362011966, ss1428307436, ss1578520323, ss1637409896, ss1680403929, ss1711490469, ss1937474172, ss1968591195, ss2029513022, ss2158022618, ss2389009183, ss2629254968, ss2702627194, ss2959446908, ss2985763025, ss3016937542, ss3352153584, ss3627868812, ss3636408475, ss3638210295, ss3646525556, ss3683788148, ss3742775439, ss3755707436, ss3788443494, ss3793367124, ss3798253728 NC_000019.9:541684:C:T NC_000019.10:541684:C:T (self)
175130487, ss2223600412, ss3028589037, ss3285596460, ss3650849639, ss3702157849, ss3820961637 NC_000019.10:541684:C:T NC_000019.10:541684:C:T (self)
ss8946, ss1524388, ss4415296, ss16263873, ss16804400, ss19406163, ss21509788, ss24190406, ss24821248, ss44188619, ss66862458, ss69378624, ss96284540, ss106041361, ss132769050, ss137509373, ss155511163, ss160853009, ss168981152 NT_011255.14:481684:C:T NC_000019.10:541684: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 rs7150

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.post270+ab078da