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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs17567355

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:109130398 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.042023 (11123/264690, TOPMED)
A=0.047103 (6596/140034, GnomAD)
A=0.02567 (2020/78702, PAGE_STUDY) (+ 14 more)
A=0.05548 (1755/31634, ALFA)
A=0.0292 (187/6404, 1000G_30x)
A=0.0315 (158/5008, 1000G)
A=0.0625 (280/4480, Estonian)
A=0.0483 (186/3854, ALSPAC)
A=0.0601 (223/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.1290 (144/1116, Daghestan)
A=0.047 (47/998, GoNL)
A=0.048 (29/600, NorthernSweden)
A=0.162 (35/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.42 (17/40, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ELAPOR1 : 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 31634 G=0.94452 A=0.05548
European Sub 24902 G=0.93888 A=0.06112
African Sub 3604 G=0.9875 A=0.0125
African Others Sub 124 G=0.984 A=0.016
African American Sub 3480 G=0.9876 A=0.0124
Asian Sub 164 G=0.994 A=0.006
East Asian Sub 136 G=0.993 A=0.007
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 168 G=0.952 A=0.048
Latin American 2 Sub 700 G=0.974 A=0.026
South Asian Sub 122 G=0.918 A=0.082
Other Sub 1974 G=0.9235 A=0.0765


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=0.957977 A=0.042023
gnomAD - Genomes Global Study-wide 140034 G=0.952897 A=0.047103
gnomAD - Genomes European Sub 75830 G=0.93595 A=0.06405
gnomAD - Genomes African Sub 41980 G=0.98385 A=0.01615
gnomAD - Genomes American Sub 13622 G=0.96315 A=0.03685
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8649 A=0.1351
gnomAD - Genomes East Asian Sub 3128 G=0.9994 A=0.0006
gnomAD - Genomes Other Sub 2150 G=0.9498 A=0.0502
The PAGE Study Global Study-wide 78702 G=0.97433 A=0.02567
The PAGE Study AfricanAmerican Sub 32516 G=0.98339 A=0.01661
The PAGE Study Mexican Sub 10810 G=0.96485 A=0.03515
The PAGE Study Asian Sub 8318 G=0.9998 A=0.0002
The PAGE Study PuertoRican Sub 7918 G=0.9543 A=0.0457
The PAGE Study NativeHawaiian Sub 4534 G=0.9832 A=0.0168
The PAGE Study Cuban Sub 4230 G=0.9395 A=0.0605
The PAGE Study Dominican Sub 3828 G=0.9647 A=0.0353
The PAGE Study CentralAmerican Sub 2450 G=0.9653 A=0.0347
The PAGE Study SouthAmerican Sub 1982 G=0.9687 A=0.0313
The PAGE Study NativeAmerican Sub 1260 G=0.9540 A=0.0460
The PAGE Study SouthAsian Sub 856 G=0.925 A=0.075
Allele Frequency Aggregator Total Global 31634 G=0.94452 A=0.05548
Allele Frequency Aggregator European Sub 24902 G=0.93888 A=0.06112
Allele Frequency Aggregator African Sub 3604 G=0.9875 A=0.0125
Allele Frequency Aggregator Other Sub 1974 G=0.9235 A=0.0765
Allele Frequency Aggregator Latin American 2 Sub 700 G=0.974 A=0.026
Allele Frequency Aggregator Latin American 1 Sub 168 G=0.952 A=0.048
Allele Frequency Aggregator Asian Sub 164 G=0.994 A=0.006
Allele Frequency Aggregator South Asian Sub 122 G=0.918 A=0.082
1000Genomes_30x Global Study-wide 6404 G=0.9708 A=0.0292
1000Genomes_30x African Sub 1786 G=0.9950 A=0.0050
1000Genomes_30x Europe Sub 1266 G=0.9471 A=0.0529
1000Genomes_30x South Asian Sub 1202 G=0.9368 A=0.0632
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.965 A=0.035
1000Genomes Global Study-wide 5008 G=0.9685 A=0.0315
1000Genomes African Sub 1322 G=0.9939 A=0.0061
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9453 A=0.0547
1000Genomes South Asian Sub 978 G=0.928 A=0.072
1000Genomes American Sub 694 G=0.965 A=0.035
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9375 A=0.0625
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9517 A=0.0483
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9399 A=0.0601
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 A=0.0007
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
Genome-wide autozygosity in Daghestan Global Study-wide 1116 G=0.8710 A=0.1290
Genome-wide autozygosity in Daghestan Daghestan Sub 620 G=0.835 A=0.165
Genome-wide autozygosity in Daghestan Near_East Sub 142 G=0.887 A=0.113
Genome-wide autozygosity in Daghestan Central Asia Sub 114 G=0.912 A=0.088
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.963 A=0.037
Genome-wide autozygosity in Daghestan South Asian Sub 96 G=0.94 A=0.06
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.83 A=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.953 A=0.047
Northern Sweden ACPOP Study-wide 600 G=0.952 A=0.048
Qatari Global Study-wide 216 G=0.838 A=0.162
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
SGDP_PRJ Global Study-wide 40 G=0.42 A=0.57
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.p14 chr 1 NC_000001.11:g.109130398G>A
GRCh37.p13 chr 1 NC_000001.10:g.109673020G>A
ELAPOR1 RefSeqGene NG_032763.1:g.21436G>A
Gene: ELAPOR1, endosome-lysosome associated apoptosis and autophagy regulator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ELAPOR1 transcript variant 2 NM_001267048.2:c.153+1606…

NM_001267048.2:c.153+16062G>A

 		N/A Intron Variant
ELAPOR1 transcript variant 4 NM_001284352.2:c.-33+1606…

NM_001284352.2:c.-33+16062G>A

 		N/A Intron Variant
ELAPOR1 transcript variant 1 NM_020775.5:c.153+16062G>A N/A Intron Variant
ELAPOR1 transcript variant 5 NM_001284353.2:c. N/A Genic Upstream Transcript Variant
ELAPOR1 transcript variant X1 XM_011541825.3:c.153+1606…

XM_011541825.3:c.153+16062G>A

 		N/A Intron Variant
ELAPOR1 transcript variant X2 XM_011541826.4:c.153+1606…

XM_011541826.4:c.153+16062G>A

 		N/A Intron Variant
ELAPOR1 transcript variant X3 XM_011541827.3:c.153+1606…

XM_011541827.3:c.153+16062G>A

 		N/A Intron Variant
ELAPOR1 transcript variant X4 XM_047426133.1: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
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.p14 chr 1 NC_000001.11:g.109130398= NC_000001.11:g.109130398G>A
GRCh37.p13 chr 1 NC_000001.10:g.109673020= NC_000001.10:g.109673020G>A
ELAPOR1 RefSeqGene NG_032763.1:g.21436= NG_032763.1:g.21436G>A
KIAA1324 transcript variant 2 NM_001267048.1:c.153+16062= NM_001267048.1:c.153+16062G>A
ELAPOR1 transcript variant 2 NM_001267048.2:c.153+16062= NM_001267048.2:c.153+16062G>A
ELAPOR1 transcript variant 4 NM_001284352.2:c.-33+16062= NM_001284352.2:c.-33+16062G>A
KIAA1324 transcript variant 1 NM_020775.4:c.153+16062= NM_020775.4:c.153+16062G>A
ELAPOR1 transcript variant 1 NM_020775.5:c.153+16062= NM_020775.5:c.153+16062G>A
ELAPOR1 transcript variant X1 XM_011541825.3:c.153+16062= XM_011541825.3:c.153+16062G>A
ELAPOR1 transcript variant X2 XM_011541826.4:c.153+16062= XM_011541826.4:c.153+16062G>A
ELAPOR1 transcript variant X3 XM_011541827.3:c.153+16062= XM_011541827.3:c.153+16062G>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#.

57 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24272545 Sep 20, 2004 (123)
2 ABI ss44084968 Mar 15, 2006 (126)
3 PERLEGEN ss68777160 May 18, 2007 (127)
4 HUMANGENOME_JCVI ss99238933 Feb 05, 2009 (130)
5 PJP ss290595472 May 09, 2011 (134)
6 1000GENOMES ss328848056 May 09, 2011 (134)
7 ILLUMINA ss410764773 Sep 17, 2011 (135)
8 ILLUMINA ss482064547 May 04, 2012 (137)
9 ILLUMINA ss483625076 May 04, 2012 (137)
10 ILLUMINA ss535828988 Sep 08, 2015 (146)
11 ILLUMINA ss780347686 Sep 08, 2015 (146)
12 ILLUMINA ss782255888 Sep 08, 2015 (146)
13 ILLUMINA ss835835355 Sep 08, 2015 (146)
14 EVA-GONL ss975555815 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1068182070 Aug 21, 2014 (142)
16 1000GENOMES ss1292374622 Aug 21, 2014 (142)
17 HAMMER_LAB ss1397257001 Sep 08, 2015 (146)
18 DDI ss1425932961 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1574313920 Apr 01, 2015 (144)
20 EVA_DECODE ss1584934970 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1600958291 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1643952324 Apr 01, 2015 (144)
23 WEILL_CORNELL_DGM ss1918755787 Feb 12, 2016 (147)
24 ILLUMINA ss1958301231 Feb 12, 2016 (147)
25 JJLAB ss2019902330 Sep 14, 2016 (149)
26 HUMAN_LONGEVITY ss2165593183 Dec 20, 2016 (150)
27 ILLUMINA ss2632560898 Nov 08, 2017 (151)
28 GRF ss2697849629 Nov 08, 2017 (151)
29 GNOMAD ss2759395943 Nov 08, 2017 (151)
30 SWEGEN ss2987415008 Nov 08, 2017 (151)
31 ILLUMINA ss3021118996 Nov 08, 2017 (151)
32 BIOINF_KMB_FNS_UNIBA ss3023714965 Nov 08, 2017 (151)
33 CSHL ss3343628651 Nov 08, 2017 (151)
34 ILLUMINA ss3626178637 Oct 11, 2018 (152)
35 ILLUMINA ss3630594760 Oct 11, 2018 (152)
36 ILLUMINA ss3641610005 Oct 11, 2018 (152)
37 URBANLAB ss3646748970 Oct 11, 2018 (152)
38 ILLUMINA ss3651450908 Oct 11, 2018 (152)
39 EGCUT_WGS ss3655503489 Jul 12, 2019 (153)
40 EVA_DECODE ss3687501923 Jul 12, 2019 (153)
41 ILLUMINA ss3725052868 Jul 12, 2019 (153)
42 ACPOP ss3727376736 Jul 12, 2019 (153)
43 EVA ss3746654467 Jul 12, 2019 (153)
44 PAGE_CC ss3770831498 Jul 12, 2019 (153)
45 SGDP_PRJ ss3849620819 Apr 25, 2020 (154)
46 KRGDB ss3894710248 Apr 25, 2020 (154)
47 KOGIC ss3945217044 Apr 25, 2020 (154)
48 TOPMED ss4463096584 Apr 25, 2021 (155)
49 1000G_HIGH_COVERAGE ss5243560888 Oct 12, 2022 (156)
50 EVA ss5321093765 Oct 12, 2022 (156)
51 HUGCELL_USP ss5444489067 Oct 12, 2022 (156)
52 EVA ss5505993197 Oct 12, 2022 (156)
53 1000G_HIGH_COVERAGE ss5516529084 Oct 12, 2022 (156)
54 SANFORD_IMAGENETICS ss5626271077 Oct 12, 2022 (156)
55 EVA ss5832464340 Oct 12, 2022 (156)
56 EVA ss5909742411 Oct 12, 2022 (156)
57 EVA ss5938135090 Oct 12, 2022 (156)
58 1000Genomes NC_000001.10 - 109673020 Oct 11, 2018 (152)
59 1000Genomes_30x NC_000001.11 - 109130398 Oct 12, 2022 (156)
60 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 109673020 Oct 11, 2018 (152)
61 Genome-wide autozygosity in Daghestan NC_000001.9 - 109474543 Apr 25, 2020 (154)
62 Genetic variation in the Estonian population NC_000001.10 - 109673020 Oct 11, 2018 (152)
63 The Danish reference pan genome NC_000001.10 - 109673020 Apr 25, 2020 (154)
64 gnomAD - Genomes NC_000001.11 - 109130398 Apr 25, 2021 (155)
65 Genome of the Netherlands Release 5 NC_000001.10 - 109673020 Apr 25, 2020 (154)
66 KOREAN population from KRGDB NC_000001.10 - 109673020 Apr 25, 2020 (154)
67 Korean Genome Project NC_000001.11 - 109130398 Apr 25, 2020 (154)
68 Northern Sweden NC_000001.10 - 109673020 Jul 12, 2019 (153)
69 The PAGE Study NC_000001.11 - 109130398 Jul 12, 2019 (153)
70 Qatari NC_000001.10 - 109673020 Apr 25, 2020 (154)
71 SGDP_PRJ NC_000001.10 - 109673020 Apr 25, 2020 (154)
72 TopMed NC_000001.11 - 109130398 Apr 25, 2021 (155)
73 UK 10K study - Twins NC_000001.10 - 109673020 Oct 11, 2018 (152)
74 ALFA NC_000001.11 - 109130398 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
18285, ss290595472, ss482064547, ss1397257001, ss1584934970 NC_000001.9:109474542:G:A NC_000001.11:109130397:G:A (self)
3148579, 1739211, 1241737, 1658967, 757755, 1887642, 661601, 797717, 1637799, 1739211, ss328848056, ss483625076, ss535828988, ss780347686, ss782255888, ss835835355, ss975555815, ss1068182070, ss1292374622, ss1425932961, ss1574313920, ss1600958291, ss1643952324, ss1918755787, ss1958301231, ss2019902330, ss2632560898, ss2697849629, ss2759395943, ss2987415008, ss3021118996, ss3343628651, ss3626178637, ss3630594760, ss3641610005, ss3651450908, ss3655503489, ss3727376736, ss3746654467, ss3849620819, ss3894710248, ss5321093765, ss5505993197, ss5626271077, ss5832464340, ss5938135090 NC_000001.10:109673019:G:A NC_000001.11:109130397:G:A (self)
4055019, 22276540, 1595045, 52967, 26702919, 13645773402, ss2165593183, ss3023714965, ss3646748970, ss3687501923, ss3725052868, ss3770831498, ss3945217044, ss4463096584, ss5243560888, ss5444489067, ss5516529084, ss5909742411 NC_000001.11:109130397:G:A NC_000001.11:109130397:G:A (self)
ss24272545, ss44084968, ss68777160, ss99238933, ss410764773 NT_032977.9:79644937:G:A NC_000001.11:109130397: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 rs17567355

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.post761+d5e8e07