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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.

rs11176575

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr12:40426406 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.41273 (59351/143802, GnomAD)
A=0.41178 (51707/125568, TOPMED)
A=0.4335 (13332/30752, GnomAD) (+ 5 more)
A=0.4129 (7079/17144, ExAC)
A=0.431 (2159/5008, 1000G)
A=0.479 (2146/4480, Estonian)
A=0.416 (1603/3854, ALSPAC)
A=0.406 (1504/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MUC19 : Splice Acceptor Variant
LOC105369736 : 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.p12 chr 12 NC_000012.12:g.40426406G>A
GRCh37.p13 chr 12 NC_000012.11:g.40820208G>A
Gene: MUC19, mucin 19, oligomeric (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MUC19 transcript NM_173600.2:c. N/A Splice Acceptor Variant
Gene: LOC105369736, uncharacterized LOC105369736 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105369736 transcript variant X5 XR_001749087.1:n. N/A Intron Variant
LOC105369736 transcript variant X6 XR_001749088.1:n. N/A Intron Variant
LOC105369736 transcript variant X2 XR_944866.1:n. N/A Intron Variant
LOC105369736 transcript variant X3 XR_944867.1:n. N/A Intron Variant
LOC105369736 transcript variant X4 XR_944868.2:n. N/A Intron Variant
LOC105369736 transcript variant X1 XR_944869.2:n. N/A Intron 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
gnomAD - Exomes Global Study-wide 143802 G=0.58727 A=0.41273
gnomAD - Exomes European Sub 68902 G=0.5840 A=0.4160
gnomAD - Exomes Asian Sub 32626 G=0.5721 A=0.4279
gnomAD - Exomes American Sub 23810 G=0.6168 A=0.3832
gnomAD - Exomes Ashkenazi Jewish Sub 8104 G=0.605 A=0.395
gnomAD - Exomes African Sub 6562 G=0.560 A=0.440
gnomAD - Exomes Other Sub 3798 G=0.600 A=0.400
TopMed Global Study-wide 125568 G=0.58822 A=0.41178
gnomAD - Genomes Global Study-wide 30752 G=0.5665 A=0.4335
gnomAD - Genomes European Sub 18446 G=0.5637 A=0.4363
gnomAD - Genomes African Sub 8584 G=0.575 A=0.425
gnomAD - Genomes East Asian Sub 1604 G=0.516 A=0.484
gnomAD - Genomes Other Sub 982 G=0.57 A=0.43
gnomAD - Genomes American Sub 834 G=0.62 A=0.38
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.60 A=0.40
ExAC Global Study-wide 17144 G=0.5871 A=0.4129
ExAC Asian Sub 8144 G=0.593 A=0.407
ExAC Europe Sub 7510 G=0.581 A=0.419
ExAC African Sub 978 G=0.54 A=0.46
ExAC American Sub 296 G=0.67 A=0.33
ExAC Other Sub 216 G=0.64 A=0.36
1000Genomes Global Study-wide 5008 G=0.569 A=0.431
1000Genomes African Sub 1322 G=0.573 A=0.427
1000Genomes East Asian Sub 1008 G=0.528 A=0.472
1000Genomes Europe Sub 1006 G=0.597 A=0.403
1000Genomes South Asian Sub 978 G=0.55 A=0.45
1000Genomes American Sub 694 G=0.60 A=0.40
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.521 A=0.479
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.584 A=0.416
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.594 A=0.406
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 G= A Note
GRCh38.p12 chr 12 NC_000012.12:g.40426406G= NC_000012.12:g.40426406G>A
GRCh37.p13 chr 12 NC_000012.11:g.40820208G= NC_000012.11:g.40820208G>A
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#.

68 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15984676 Feb 27, 2004 (120)
2 SC_SNP ss19004467 Feb 27, 2004 (120)
3 SSAHASNP ss20967423 Apr 05, 2004 (121)
4 BCM-HGSC ss28465586 Sep 20, 2004 (126)
5 BCM-HGSC ss28468740 Sep 20, 2004 (126)
6 BCM-HGSC ss28473667 Sep 20, 2004 (126)
7 BCM-HGSC ss32471897 May 24, 2005 (125)
8 ABI ss38942812 Mar 10, 2006 (126)
9 CSHL-HAPMAP ss68389356 Jan 12, 2007 (127)
10 ILLUMINA ss75015299 Dec 06, 2007 (129)
11 BCMHGSC_JDW ss89105522 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss97303854 Feb 06, 2009 (130)
13 1000GENOMES ss111818868 Jan 25, 2009 (130)
14 KRIBB_YJKIM ss119675150 Dec 01, 2009 (131)
15 ENSEMBL ss132119631 Dec 01, 2009 (131)
16 ENSEMBL ss133126942 Dec 01, 2009 (131)
17 GMI ss157386460 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss168174444 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss170767932 Jul 04, 2010 (132)
20 ILLUMINA ss171128799 Jul 04, 2010 (132)
21 BUSHMAN ss198057760 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss208410211 Jul 04, 2010 (132)
23 1000GENOMES ss211270603 Jul 14, 2010 (132)
24 1000GENOMES ss225713174 Jul 14, 2010 (132)
25 1000GENOMES ss235906209 Jul 15, 2010 (132)
26 1000GENOMES ss242469079 Jul 15, 2010 (132)
27 GMI ss281364478 May 04, 2012 (137)
28 GMI ss286548366 Apr 25, 2013 (138)
29 PJP ss291425828 May 09, 2011 (134)
30 CLINSEQ_SNP ss491663169 May 04, 2012 (137)
31 ILLUMINA ss536683301 Sep 08, 2015 (146)
32 TISHKOFF ss563120571 Apr 25, 2013 (138)
33 SSMP ss658666299 Apr 25, 2013 (138)
34 EVA-GONL ss989453066 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1078403377 Aug 21, 2014 (142)
36 1000GENOMES ss1344704418 Aug 21, 2014 (142)
37 DDI ss1426910661 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1576236234 Apr 01, 2015 (144)
39 EVA_DECODE ss1599120408 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1628430405 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1671424438 Apr 01, 2015 (144)
42 EVA_EXAC ss1690855733 Apr 01, 2015 (144)
43 EVA_MGP ss1711326591 Apr 01, 2015 (144)
44 EVA_SVP ss1713321863 Apr 01, 2015 (144)
45 WEILL_CORNELL_DGM ss1932816786 Feb 12, 2016 (147)
46 ILLUMINA ss1959428628 Feb 12, 2016 (147)
47 JJLAB ss2027159057 Sep 14, 2016 (149)
48 ILLUMINA ss2094873706 Dec 20, 2016 (150)
49 ILLUMINA ss2095034430 Dec 20, 2016 (150)
50 USC_VALOUEV ss2155492172 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2189144870 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2628058816 Nov 08, 2017 (151)
53 GRF ss2699831431 Nov 08, 2017 (151)
54 GNOMAD ss2739733448 Nov 08, 2017 (151)
55 GNOMAD ss2748842830 Nov 08, 2017 (151)
56 GNOMAD ss2909608984 Nov 08, 2017 (151)
57 SWEGEN ss3009556505 Nov 08, 2017 (151)
58 ILLUMINA ss3021423353 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3027387660 Nov 08, 2017 (151)
60 TOPMED ss3168845502 Nov 08, 2017 (151)
61 CSHL ss3350028022 Nov 08, 2017 (151)
62 ILLUMINA ss3626859687 Oct 12, 2018 (152)
63 ILLUMINA ss3637958423 Oct 12, 2018 (152)
64 ILLUMINA ss3642952437 Oct 12, 2018 (152)
65 OMUKHERJEE_ADBS ss3646440837 Oct 12, 2018 (152)
66 URBANLAB ss3649820946 Oct 12, 2018 (152)
67 ILLUMINA ss3651799579 Oct 12, 2018 (152)
68 ILLUMINA ss3651799580 Oct 12, 2018 (152)
69 1000Genomes NC_000012.11 - 40820208 Oct 12, 2018 (152)
70 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 40820208 Oct 12, 2018 (152)
71 Genetic variation in the Estonian population NC_000012.11 - 40820208 Oct 12, 2018 (152)
72 ExAC NC_000012.11 - 40820208 Oct 12, 2018 (152)
73 gnomAD - Genomes NC_000012.11 - 40820208 Oct 12, 2018 (152)
74 gnomAD - Exomes NC_000012.11 - 40820208 Oct 12, 2018 (152)
75 TopMed NC_000012.12 - 40426406 Oct 12, 2018 (152)
76 UK 10K study - Twins NC_000012.11 - 40820208 Oct 12, 2018 (152)
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)
rs17462187 Mar 10, 2006 (126)
rs17467220 Mar 10, 2006 (126)
rs17521075 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss89105522, ss111818868, ss168174444, ss170767932, ss198057760, ss208410211, ss211270603, ss281364478, ss286548366, ss291425828, ss491663169, ss1599120408, ss1713321863, ss2094873706, ss3642952437 NC_000012.10:39106474:G:A NC_000012.12:40426405:G:A (self)
57441621, 31897847, 22570396, 1149199, 43310507, 7092086, 31897847, ss225713174, ss235906209, ss242469079, ss536683301, ss563120571, ss658666299, ss989453066, ss1078403377, ss1344704418, ss1426910661, ss1576236234, ss1628430405, ss1671424438, ss1690855733, ss1711326591, ss1932816786, ss1959428628, ss2027159057, ss2095034430, ss2155492172, ss2628058816, ss2699831431, ss2739733448, ss2748842830, ss2909608984, ss3009556505, ss3021423353, ss3350028022, ss3626859687, ss3637958423, ss3646440837, ss3651799579, ss3651799580 NC_000012.11:40820207:G:A NC_000012.12:40426405:G:A (self)
82099253, ss2189144870, ss3027387660, ss3168845502, ss3649820946 NC_000012.12:40426405:G:A NC_000012.12:40426405:G:A (self)
ss15984676, ss19004467, ss20967423 NT_029419.10:2963513:G:A NC_000012.12:40426405:G:A (self)
ss28465586, ss28468740, ss28473667, ss32471897, ss38942812, ss68389356, ss75015299, ss97303854, ss119675150, ss132119631, ss133126942, ss157386460, ss171128799 NT_029419.12:2963513:G:A NC_000012.12:40426405:G:A (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 rs11176575

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.post104+4a6ee9c