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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.

rs4755798

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:44264626 (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=0.233031 (61681/264690, TOPMED)
A=0.234844 (32926/140204, GnomAD)
A=0.11555 (3265/28256, 14KJPN) (+ 18 more)
A=0.24771 (4966/20048, ALFA)
A=0.11548 (1935/16756, 8.3KJPN)
A=0.1958 (1254/6404, 1000G_30x)
A=0.1991 (997/5008, 1000G)
A=0.2237 (1002/4480, Estonian)
A=0.2644 (1019/3854, ALSPAC)
A=0.2640 (979/3708, TWINSUK)
A=0.0980 (286/2918, KOREAN)
A=0.1021 (187/1832, Korea1K)
A=0.251 (250/998, GoNL)
A=0.292 (175/600, NorthernSweden)
A=0.002 (1/534, MGP)
A=0.384 (83/216, Qatari)
A=0.150 (32/214, Vietnamese)
G=0.440 (88/200, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
G=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ALX4 : 3 Prime UTR Variant
Publications
2 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 20048 G=0.75229 A=0.24771
European Sub 15434 G=0.73843 A=0.26157
African Sub 2946 G=0.8065 A=0.1935
African Others Sub 114 G=0.807 A=0.193
African American Sub 2832 G=0.8065 A=0.1935
Asian Sub 112 G=0.875 A=0.125
East Asian Sub 86 G=0.86 A=0.14
Other Asian Sub 26 G=0.92 A=0.08
Latin American 1 Sub 146 G=0.705 A=0.295
Latin American 2 Sub 610 G=0.821 A=0.179
South Asian Sub 98 G=0.78 A=0.22
Other Sub 702 G=0.756 A=0.244


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=0.766969 A=0.233031
gnomAD - Genomes Global Study-wide 140204 G=0.765156 A=0.234844
gnomAD - Genomes European Sub 75902 G=0.73860 A=0.26140
gnomAD - Genomes African Sub 42030 G=0.80980 A=0.19020
gnomAD - Genomes American Sub 13662 G=0.78012 A=0.21988
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.6438 A=0.3562
gnomAD - Genomes East Asian Sub 3132 G=0.8771 A=0.1229
gnomAD - Genomes Other Sub 2154 G=0.7595 A=0.2405
14KJPN JAPANESE Study-wide 28256 G=0.88445 A=0.11555
Allele Frequency Aggregator Total Global 20048 G=0.75229 A=0.24771
Allele Frequency Aggregator European Sub 15434 G=0.73843 A=0.26157
Allele Frequency Aggregator African Sub 2946 G=0.8065 A=0.1935
Allele Frequency Aggregator Other Sub 702 G=0.756 A=0.244
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.821 A=0.179
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.705 A=0.295
Allele Frequency Aggregator Asian Sub 112 G=0.875 A=0.125
Allele Frequency Aggregator South Asian Sub 98 G=0.78 A=0.22
8.3KJPN JAPANESE Study-wide 16756 G=0.88452 A=0.11548
1000Genomes_30x Global Study-wide 6404 G=0.8042 A=0.1958
1000Genomes_30x African Sub 1786 G=0.8108 A=0.1892
1000Genomes_30x Europe Sub 1266 G=0.7417 A=0.2583
1000Genomes_30x South Asian Sub 1202 G=0.7804 A=0.2196
1000Genomes_30x East Asian Sub 1170 G=0.8641 A=0.1359
1000Genomes_30x American Sub 980 G=0.831 A=0.169
1000Genomes Global Study-wide 5008 G=0.8009 A=0.1991
1000Genomes African Sub 1322 G=0.8026 A=0.1974
1000Genomes East Asian Sub 1008 G=0.8601 A=0.1399
1000Genomes Europe Sub 1006 G=0.7435 A=0.2565
1000Genomes South Asian Sub 978 G=0.784 A=0.216
1000Genomes American Sub 694 G=0.818 A=0.182
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7763 A=0.2237
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7356 A=0.2644
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7360 A=0.2640
KOREAN population from KRGDB KOREAN Study-wide 2918 G=0.9020 A=0.0980
Korean Genome Project KOREAN Study-wide 1832 G=0.8979 A=0.1021
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.749 A=0.251
Northern Sweden ACPOP Study-wide 600 G=0.708 A=0.292
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
Qatari Global Study-wide 216 G=0.616 A=0.384
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.850 A=0.150
SGDP_PRJ Global Study-wide 200 G=0.440 A=0.560
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 14 G=0.50 A=0.50
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 11 NC_000011.10:g.44264626G>A
GRCh37.p13 chr 11 NC_000011.9:g.44286176G>A
ALX4 RefSeqGene (LRG_1256) NG_015809.1:g.50541C>T
Gene: ALX4, ALX homeobox 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ALX4 transcript NM_021926.4:c.*228= N/A 3 Prime UTR 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.

Allele: A (allele ID: 326638 )
ClinVar Accession Disease Names Clinical Significance
RCV000280630.3 Parietal foramina 2 Benign
RCV001683231.1 not provided Benign
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 11 NC_000011.10:g.44264626= NC_000011.10:g.44264626G>A
GRCh37.p13 chr 11 NC_000011.9:g.44286176= NC_000011.9:g.44286176G>A
ALX4 RefSeqGene (LRG_1256) NG_015809.1:g.50541= NG_015809.1:g.50541C>T
ALX4 transcript NM_021926.4:c.*228= NM_021926.4:c.*228C>T
ALX4 transcript NM_021926.3:c.*228= NM_021926.3:c.*228C>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#.

72 SubSNP, 20 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6559144 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss10700670 Jul 11, 2003 (116)
3 SC_SNP ss15615857 Feb 27, 2004 (120)
4 PERLEGEN ss24566690 Sep 20, 2004 (123)
5 HGSV ss81271134 Dec 15, 2007 (130)
6 BCMHGSC_JDW ss88563252 Mar 23, 2008 (129)
7 1000GENOMES ss110425955 Jan 24, 2009 (130)
8 ILLUMINA-UK ss119825686 Dec 01, 2009 (131)
9 ENSEMBL ss132472784 Dec 01, 2009 (131)
10 ILLUMINA ss160707385 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168308943 Jul 04, 2010 (132)
12 BUSHMAN ss202659422 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss207888776 Jul 04, 2010 (132)
14 1000GENOMES ss211127416 Jul 14, 2010 (132)
15 1000GENOMES ss225226554 Jul 14, 2010 (132)
16 1000GENOMES ss235544125 Jul 15, 2010 (132)
17 1000GENOMES ss242181431 Jul 15, 2010 (132)
18 BL ss255090017 May 09, 2011 (134)
19 ILLUMINA ss479236333 May 04, 2012 (137)
20 ILLUMINA ss482839238 May 04, 2012 (137)
21 GENEREVIEWS ss550898311 Nov 14, 2012 (137)
22 TISHKOFF ss562541386 Apr 25, 2013 (138)
23 SSMP ss658035540 Apr 25, 2013 (138)
24 ILLUMINA ss780931144 Sep 08, 2015 (146)
25 EVA-GONL ss988474205 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1077699378 Aug 21, 2014 (142)
27 1000GENOMES ss1341082448 Aug 21, 2014 (142)
28 DDI ss1426619232 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1575683281 Apr 01, 2015 (144)
30 EVA_DECODE ss1598150209 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1626503560 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1669497593 Apr 01, 2015 (144)
33 EVA_MGP ss1711288897 Apr 01, 2015 (144)
34 HAMMER_LAB ss1806804521 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1931831604 Feb 12, 2016 (147)
36 JJLAB ss2026663606 Sep 14, 2016 (149)
37 USC_VALOUEV ss2154954500 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2182179220 Dec 20, 2016 (150)
39 ILLUMINA ss2632831572 Nov 08, 2017 (151)
40 GRF ss2699238527 Nov 08, 2017 (151)
41 GNOMAD ss2899041858 Nov 08, 2017 (151)
42 SWEGEN ss3007993197 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3027131315 Nov 08, 2017 (151)
44 CSHL ss3349570761 Nov 08, 2017 (151)
45 ILLUMINA ss3641733408 Oct 12, 2018 (152)
46 OMUKHERJEE_ADBS ss3646424653 Oct 12, 2018 (152)
47 EGCUT_WGS ss3675401601 Jul 13, 2019 (153)
48 EVA_DECODE ss3691692880 Jul 13, 2019 (153)
49 ACPOP ss3738140687 Jul 13, 2019 (153)
50 EVA ss3749241781 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3814590863 Jul 13, 2019 (153)
52 EVA ss3825796580 Apr 26, 2020 (154)
53 EVA ss3832607473 Apr 26, 2020 (154)
54 SGDP_PRJ ss3876154039 Apr 26, 2020 (154)
55 KRGDB ss3924422693 Apr 26, 2020 (154)
56 KOGIC ss3969673861 Apr 26, 2020 (154)
57 FSA-LAB ss3984000438 Apr 26, 2021 (155)
58 TOPMED ss4883615526 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5201755978 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5287241620 Oct 16, 2022 (156)
61 EVA ss5399276541 Oct 16, 2022 (156)
62 HUGCELL_USP ss5482460895 Oct 16, 2022 (156)
63 1000G_HIGH_COVERAGE ss5582815228 Oct 16, 2022 (156)
64 EVA ss5624019554 Oct 16, 2022 (156)
65 SANFORD_IMAGENETICS ss5651127415 Oct 16, 2022 (156)
66 TOMMO_GENOMICS ss5748812276 Oct 16, 2022 (156)
67 YY_MCH ss5812344287 Oct 16, 2022 (156)
68 EVA ss5836595681 Oct 16, 2022 (156)
69 EVA ss5849965238 Oct 16, 2022 (156)
70 EVA ss5919796823 Oct 16, 2022 (156)
71 EVA ss5942444664 Oct 16, 2022 (156)
72 EVA ss5980674126 Oct 16, 2022 (156)
73 1000Genomes NC_000011.9 - 44286176 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000011.10 - 44264626 Oct 16, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 44286176 Oct 12, 2018 (152)
76 Genetic variation in the Estonian population NC_000011.9 - 44286176 Oct 12, 2018 (152)
77 The Danish reference pan genome NC_000011.9 - 44286176 Apr 26, 2020 (154)
78 gnomAD - Genomes NC_000011.10 - 44264626 Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000011.9 - 44286176 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000011.9 - 44286176 Apr 26, 2020 (154)
81 Korean Genome Project NC_000011.10 - 44264626 Apr 26, 2020 (154)
82 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 44286176 Apr 26, 2020 (154)
83 Northern Sweden NC_000011.9 - 44286176 Jul 13, 2019 (153)
84 Qatari NC_000011.9 - 44286176 Apr 26, 2020 (154)
85 SGDP_PRJ NC_000011.9 - 44286176 Apr 26, 2020 (154)
86 Siberian NC_000011.9 - 44286176 Apr 26, 2020 (154)
87 8.3KJPN NC_000011.9 - 44286176 Apr 26, 2021 (155)
88 14KJPN NC_000011.10 - 44264626 Oct 16, 2022 (156)
89 TopMed NC_000011.10 - 44264626 Apr 26, 2021 (155)
90 UK 10K study - Twins NC_000011.9 - 44286176 Oct 12, 2018 (152)
91 A Vietnamese Genetic Variation Database NC_000011.9 - 44286176 Jul 13, 2019 (153)
92 ALFA NC_000011.10 - 44264626 Apr 26, 2021 (155)
93 ClinVar RCV000280630.3 Oct 16, 2022 (156)
94 ClinVar RCV001683231.1 Oct 16, 2022 (156)
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)
rs17602236 Oct 08, 2004 (123)
rs60894032 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81271134, ss88563252, ss110425955, ss119825686, ss168308943, ss202659422, ss207888776, ss211127416, ss255090017, ss482839238, ss1598150209 NC_000011.8:44242751:G:A NC_000011.10:44264625:G:A (self)
53600889, 29780636, 21139849, 2548683, 13286880, 31600087, 404657, 11425552, 13873534, 28171019, 7470854, 59725285, 29780636, 6617707, ss225226554, ss235544125, ss242181431, ss479236333, ss562541386, ss658035540, ss780931144, ss988474205, ss1077699378, ss1341082448, ss1426619232, ss1575683281, ss1626503560, ss1669497593, ss1711288897, ss1806804521, ss1931831604, ss2026663606, ss2154954500, ss2632831572, ss2699238527, ss2899041858, ss3007993197, ss3349570761, ss3641733408, ss3646424653, ss3675401601, ss3738140687, ss3749241781, ss3825796580, ss3832607473, ss3876154039, ss3924422693, ss3984000438, ss5201755978, ss5399276541, ss5624019554, ss5651127415, ss5836595681, ss5942444664, ss5980674126 NC_000011.9:44286175:G:A NC_000011.10:44264625:G:A (self)
RCV000280630.3, RCV001683231.1, 70341163, 378297304, 26051862, 82649380, 99161182, 6676812314, ss550898311, ss2182179220, ss3027131315, ss3691692880, ss3814590863, ss3969673861, ss4883615526, ss5287241620, ss5482460895, ss5582815228, ss5748812276, ss5812344287, ss5849965238, ss5919796823 NC_000011.10:44264625:G:A NC_000011.10:44264625:G:A (self)
ss10700670 NT_009237.15:35687279:G:A NC_000011.10:44264625:G:A (self)
ss15615857 NT_009237.16:43050115:G:A NC_000011.10:44264625:G:A (self)
ss6559144, ss24566690, ss132472784, ss160707385 NT_009237.18:44226175:G:A NC_000011.10:44264625: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.

2 citations for rs4755798
PMID Title Author Year Journal
12774039 Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Verdyck P et al. 2003 European journal of human genetics
16319823 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Mavrogiannis LA et al. 2006 European journal of human genetics
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