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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.

rs10898827

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr11:70173307 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.212381 (56215/264690, TOPMED)
A=0.206827 (28964/140040, GnomAD)
A=0.17258 (10435/60466, ALFA) (+ 17 more)
A=0.22318 (3740/16758, 8.3KJPN)
A=0.2486 (1245/5008, 1000G)
A=0.1681 (753/4480, Estonian)
A=0.1222 (471/3854, ALSPAC)
A=0.1176 (436/3708, TWINSUK)
A=0.2307 (676/2930, KOREAN)
A=0.2431 (458/1884, HapMap)
A=0.2467 (452/1832, Korea1K)
A=0.125 (125/998, GoNL)
A=0.219 (137/626, Chileans)
A=0.128 (77/600, NorthernSweden)
A=0.227 (49/216, Qatari)
A=0.139 (30/216, Vietnamese)
G=0.456 (83/182, SGDP_PRJ)
A=0.28 (11/40, GENOME_DK)
G=0.50 (10/20, Siberian)
A=0.50 (10/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANO1 : Intron Variant
LOC101928473 : 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 11 NC_000011.10:g.70173307G>A
GRCh37.p13 chr 11 NC_000011.9:g.70019413G>A
Gene: ANO1, anoctamin 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANO1 transcript variant 3 NM_001378092.1:c.2539+226…

NM_001378092.1:c.2539+2268G>A

N/A Intron Variant
ANO1 transcript variant 4 NM_001378093.1:c.2338+226…

NM_001378093.1:c.2338+2268G>A

N/A Intron Variant
ANO1 transcript variant 5 NM_001378094.2:c.2338+226…

NM_001378094.2:c.2338+2268G>A

N/A Intron Variant
ANO1 transcript variant 6 NM_001378095.2:c.2338+226…

NM_001378095.2:c.2338+2268G>A

N/A Intron Variant
ANO1 transcript variant 7 NM_001378096.2:c.2260+226…

NM_001378096.2:c.2260+2268G>A

N/A Intron Variant
ANO1 transcript variant 8 NM_001378097.2:c.2173+226…

NM_001378097.2:c.2173+2268G>A

N/A Intron Variant
ANO1 transcript variant 1 NM_018043.7:c.2350+2268G>A N/A Intron Variant
ANO1 transcript variant 2 NR_030691.2:n. N/A Intron Variant
ANO1 transcript variant X10 XM_006718602.2:c.2332+226…

XM_006718602.2:c.2332+2268G>A

N/A Intron Variant
ANO1 transcript variant X12 XM_006718604.2:c.2068+226…

XM_006718604.2:c.2068+2268G>A

N/A Intron Variant
ANO1 transcript variant X13 XM_006718605.2:c.1912+226…

XM_006718605.2:c.1912+2268G>A

N/A Intron Variant
ANO1 transcript variant X2 XM_011545123.2:c.2413+226…

XM_011545123.2:c.2413+2268G>A

N/A Intron Variant
ANO1 transcript variant X3 XM_011545124.2:c.2404+226…

XM_011545124.2:c.2404+2268G>A

N/A Intron Variant
ANO1 transcript variant X7 XM_011545126.2:c.2326+226…

XM_011545126.2:c.2326+2268G>A

N/A Intron Variant
ANO1 transcript variant X8 XM_011545127.2:c.2272+226…

XM_011545127.2:c.2272+2268G>A

N/A Intron Variant
ANO1 transcript variant X11 XM_011545129.2:c.2329+226…

XM_011545129.2:c.2329+2268G>A

N/A Intron Variant
ANO1 transcript variant X4 XM_017017956.1:c.2347+226…

XM_017017956.1:c.2347+2268G>A

N/A Intron Variant
ANO1 transcript variant X14 XM_011545131.2:c. N/A Genic Downstream Transcript Variant
Gene: LOC101928473, uncharacterized LOC101928473 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101928473 transcript variant X1 XR_247259.3:n. N/A Intron Variant
LOC101928473 transcript variant X2 XR_950276.2: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

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 60466 G=0.82742 A=0.17258
European Sub 41330 G=0.86506 A=0.13494
African Sub 6742 G=0.6457 A=0.3543
African Others Sub 226 G=0.624 A=0.376
African American Sub 6516 G=0.6464 A=0.3536
Asian Sub 494 G=0.834 A=0.166
East Asian Sub 396 G=0.818 A=0.182
Other Asian Sub 98 G=0.90 A=0.10
Latin American 1 Sub 726 G=0.826 A=0.174
Latin American 2 Sub 7010 G=0.7710 A=0.2290
South Asian Sub 174 G=0.776 A=0.224
Other Sub 3990 G=0.8454 A=0.1546


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 G=0.787619 A=0.212381
gnomAD - Genomes Global Study-wide 140040 G=0.793173 A=0.206827
gnomAD - Genomes European Sub 75882 G=0.86273 A=0.13727
gnomAD - Genomes African Sub 41922 G=0.65281 A=0.34719
gnomAD - Genomes American Sub 13644 G=0.80658 A=0.19342
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.8767 A=0.1233
gnomAD - Genomes East Asian Sub 3122 G=0.8225 A=0.1775
gnomAD - Genomes Other Sub 2152 G=0.8183 A=0.1817
8.3KJPN JAPANESE Study-wide 16758 G=0.77682 A=0.22318
1000Genomes Global Study-wide 5008 G=0.7514 A=0.2486
1000Genomes African Sub 1322 G=0.6165 A=0.3835
1000Genomes East Asian Sub 1008 G=0.8284 A=0.1716
1000Genomes Europe Sub 1006 G=0.8410 A=0.1590
1000Genomes South Asian Sub 978 G=0.753 A=0.247
1000Genomes American Sub 694 G=0.765 A=0.235
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8319 A=0.1681
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8778 A=0.1222
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8824 A=0.1176
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7693 A=0.2307
HapMap Global Study-wide 1884 G=0.7569 A=0.2431
HapMap American Sub 770 G=0.769 A=0.231
HapMap African Sub 690 G=0.699 A=0.301
HapMap Asian Sub 248 G=0.798 A=0.202
HapMap Europe Sub 176 G=0.875 A=0.125
Korean Genome Project KOREAN Study-wide 1832 G=0.7533 A=0.2467
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.875 A=0.125
Chileans Chilean Study-wide 626 G=0.781 A=0.219
Northern Sweden ACPOP Study-wide 600 G=0.872 A=0.128
Qatari Global Study-wide 216 G=0.773 A=0.227
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.861 A=0.139
SGDP_PRJ Global Study-wide 182 G=0.456 A=0.544
The Danish reference pan genome Danish Study-wide 40 G=0.72 A=0.28
Siberian Global Study-wide 20 G=0.50 A=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 G= A
GRCh38.p13 chr 11 NC_000011.10:g.70173307= NC_000011.10:g.70173307G>A
GRCh37.p13 chr 11 NC_000011.9:g.70019413= NC_000011.9:g.70019413G>A
ANO1 transcript variant 3 NM_001378092.1:c.2539+2268= NM_001378092.1:c.2539+2268G>A
ANO1 transcript variant 4 NM_001378093.1:c.2338+2268= NM_001378093.1:c.2338+2268G>A
ANO1 transcript variant 5 NM_001378094.2:c.2338+2268= NM_001378094.2:c.2338+2268G>A
ANO1 transcript variant 6 NM_001378095.2:c.2338+2268= NM_001378095.2:c.2338+2268G>A
ANO1 transcript variant 7 NM_001378096.2:c.2260+2268= NM_001378096.2:c.2260+2268G>A
ANO1 transcript variant 8 NM_001378097.2:c.2173+2268= NM_001378097.2:c.2173+2268G>A
ANO1 transcript variant 1 NM_018043.5:c.2350+2268= NM_018043.5:c.2350+2268G>A
ANO1 transcript variant 1 NM_018043.7:c.2350+2268= NM_018043.7:c.2350+2268G>A
ANO1 transcript variant X10 XM_006718602.2:c.2332+2268= XM_006718602.2:c.2332+2268G>A
ANO1 transcript variant X12 XM_006718604.2:c.2068+2268= XM_006718604.2:c.2068+2268G>A
ANO1 transcript variant X13 XM_006718605.2:c.1912+2268= XM_006718605.2:c.1912+2268G>A
ANO1 transcript variant X2 XM_011545123.2:c.2413+2268= XM_011545123.2:c.2413+2268G>A
ANO1 transcript variant X3 XM_011545124.2:c.2404+2268= XM_011545124.2:c.2404+2268G>A
ANO1 transcript variant X7 XM_011545126.2:c.2326+2268= XM_011545126.2:c.2326+2268G>A
ANO1 transcript variant X8 XM_011545127.2:c.2272+2268= XM_011545127.2:c.2272+2268G>A
ANO1 transcript variant X11 XM_011545129.2:c.2329+2268= XM_011545129.2:c.2329+2268G>A
ANO1 transcript variant X4 XM_017017956.1:c.2347+2268= XM_017017956.1:c.2347+2268G>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#.

67 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17436228 Feb 27, 2004 (120)
2 SC_SNP ss18484640 Feb 27, 2004 (120)
3 SC_SNP ss18714644 Feb 27, 2004 (120)
4 ABI ss38709110 Mar 13, 2006 (126)
5 ILLUMINA ss65804570 Oct 16, 2006 (127)
6 AFFY ss66259844 Dec 01, 2006 (127)
7 ILLUMINA ss74855141 Dec 06, 2007 (129)
8 AFFY ss76404956 Dec 06, 2007 (129)
9 AFFY ss76858383 Dec 06, 2007 (129)
10 HGSV ss81627713 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss82796817 Dec 15, 2007 (130)
12 BGI ss102974517 Dec 01, 2009 (131)
13 ILLUMINA-UK ss119881709 Dec 01, 2009 (131)
14 GMI ss156448667 Dec 01, 2009 (131)
15 ILLUMINA ss159935769 Dec 01, 2009 (131)
16 ENSEMBL ss161446545 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168536192 Jul 04, 2010 (132)
18 ILLUMINA ss170722843 Jul 04, 2010 (132)
19 AFFY ss173488802 Jul 04, 2010 (132)
20 BUSHMAN ss202847363 Jul 04, 2010 (132)
21 1000GENOMES ss211148934 Jul 14, 2010 (132)
22 1000GENOMES ss225299970 Jul 14, 2010 (132)
23 1000GENOMES ss235602541 Jul 15, 2010 (132)
24 1000GENOMES ss242225900 Jul 15, 2010 (132)
25 GMI ss281055254 May 04, 2012 (137)
26 PJP ss291068208 May 09, 2011 (134)
27 ILLUMINA ss479809139 Sep 08, 2015 (146)
28 TISHKOFF ss562634176 Apr 25, 2013 (138)
29 SSMP ss658148206 Apr 25, 2013 (138)
30 EVA-GONL ss988646030 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1077814834 Aug 21, 2014 (142)
32 1000GENOMES ss1341769352 Aug 21, 2014 (142)
33 EVA_GENOME_DK ss1575780400 Apr 01, 2015 (144)
34 EVA_DECODE ss1598308396 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1626839200 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1669833233 Apr 01, 2015 (144)
37 EVA_SVP ss1713262534 Apr 01, 2015 (144)
38 HAMMER_LAB ss1806865431 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1932005157 Feb 12, 2016 (147)
40 GENOMED ss1967386472 Jul 19, 2016 (147)
41 JJLAB ss2026747325 Sep 14, 2016 (149)
42 USC_VALOUEV ss2155056014 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2183332439 Dec 20, 2016 (150)
44 TOPMED ss2346789650 Dec 20, 2016 (150)
45 GRF ss2699348503 Nov 08, 2017 (151)
46 GNOMAD ss2901082905 Nov 08, 2017 (151)
47 SWEGEN ss3008299199 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3027171604 Nov 08, 2017 (151)
49 TOPMED ss3148637010 Nov 08, 2017 (151)
50 CSHL ss3349655070 Nov 08, 2017 (151)
51 ILLUMINA ss3636145140 Oct 12, 2018 (152)
52 ILLUMINA ss3637914056 Oct 12, 2018 (152)
53 ILLUMINA ss3642911844 Oct 12, 2018 (152)
54 EGCUT_WGS ss3675626528 Jul 13, 2019 (153)
55 EVA_DECODE ss3692027124 Jul 13, 2019 (153)
56 ACPOP ss3738281687 Jul 13, 2019 (153)
57 EVA ss3749446397 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3814785289 Jul 13, 2019 (153)
59 EVA ss3832688022 Apr 26, 2020 (154)
60 EVA ss3839902226 Apr 26, 2020 (154)
61 EVA ss3845382079 Apr 26, 2020 (154)
62 SGDP_PRJ ss3876514428 Apr 26, 2020 (154)
63 KRGDB ss3924909730 Apr 26, 2020 (154)
64 KOGIC ss3970169513 Apr 26, 2020 (154)
65 EVA ss4017543827 Apr 27, 2021 (155)
66 TOPMED ss4889564263 Apr 27, 2021 (155)
67 TOMMO_GENOMICS ss5202557232 Apr 27, 2021 (155)
68 1000Genomes NC_000011.9 - 70019413 Oct 12, 2018 (152)
69 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 70019413 Oct 12, 2018 (152)
70 Chileans NC_000011.9 - 70019413 Apr 26, 2020 (154)
71 Genetic variation in the Estonian population NC_000011.9 - 70019413 Oct 12, 2018 (152)
72 The Danish reference pan genome NC_000011.9 - 70019413 Apr 26, 2020 (154)
73 gnomAD - Genomes NC_000011.10 - 70173307 Apr 27, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000011.9 - 70019413 Apr 26, 2020 (154)
75 HapMap NC_000011.10 - 70173307 Apr 26, 2020 (154)
76 KOREAN population from KRGDB NC_000011.9 - 70019413 Apr 26, 2020 (154)
77 Korean Genome Project NC_000011.10 - 70173307 Apr 26, 2020 (154)
78 Northern Sweden NC_000011.9 - 70019413 Jul 13, 2019 (153)
79 Qatari NC_000011.9 - 70019413 Apr 26, 2020 (154)
80 SGDP_PRJ NC_000011.9 - 70019413 Apr 26, 2020 (154)
81 Siberian NC_000011.9 - 70019413 Apr 26, 2020 (154)
82 8.3KJPN NC_000011.9 - 70019413 Apr 27, 2021 (155)
83 TopMed NC_000011.10 - 70173307 Apr 27, 2021 (155)
84 UK 10K study - Twins NC_000011.9 - 70019413 Oct 12, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000011.9 - 70019413 Jul 13, 2019 (153)
86 ALFA NC_000011.10 - 70173307 Apr 27, 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)
rs59123375 May 25, 2008 (130)
rs60340123 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66259844, ss76404956, ss76858383, ss81627713, ss119881709, ss168536192, ss173488802, ss202847363, ss211148934, ss281055254, ss291068208, ss1598308396, ss1713262534, ss3642911844 NC_000011.8:69697060:G:A NC_000011.10:70173306:G:A (self)
54308510, 30148505, 77564, 21364776, 2613696, 13451025, 32087124, 11566552, 14047087, 28531408, 7572368, 60526539, 30148505, 6689760, ss225299970, ss235602541, ss242225900, ss479809139, ss562634176, ss658148206, ss988646030, ss1077814834, ss1341769352, ss1575780400, ss1626839200, ss1669833233, ss1806865431, ss1932005157, ss1967386472, ss2026747325, ss2155056014, ss2346789650, ss2699348503, ss2901082905, ss3008299199, ss3349655070, ss3636145140, ss3637914056, ss3675626528, ss3738281687, ss3749446397, ss3832688022, ss3839902226, ss3876514428, ss3924909730, ss4017543827, ss5202557232 NC_000011.9:70019412:G:A NC_000011.10:70173306:G:A (self)
383359249, 632736, 26547514, 65972358, 105109919, 9280193342, ss2183332439, ss3027171604, ss3148637010, ss3692027124, ss3814785289, ss3845382079, ss3970169513, ss4889564263 NC_000011.10:70173306:G:A NC_000011.10:70173306:G:A (self)
ss17436228, ss18484640, ss18714644 NT_033927.6:218441:G:A NC_000011.10:70173306:G:A (self)
ss38709110, ss65804570, ss74855141, ss82796817, ss102974517, ss156448667, ss159935769, ss161446545, ss170722843 NT_167190.1:15325207:G:A NC_000011.10:70173306: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 rs10898827

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