Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs10797828

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:183059295 (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=0.319294 (84514/264690, TOPMED)
A=0.333131 (46661/140068, GnomAD)
A=0.36227 (9148/25252, ALFA) (+ 14 more)
A=0.45680 (7656/16760, 8.3KJPN)
A=0.3331 (1668/5008, 1000G)
A=0.3770 (1689/4480, Estonian)
A=0.4066 (1567/3854, ALSPAC)
A=0.4237 (1571/3708, TWINSUK)
A=0.4672 (1369/2930, KOREAN)
A=0.401 (400/998, GoNL)
A=0.403 (242/600, NorthernSweden)
G=0.356 (119/334, SGDP_PRJ)
A=0.329 (71/216, Qatari)
A=0.182 (39/214, HapMap)
G=0.462 (97/210, Vietnamese)
A=0.47 (19/40, GENOME_DK)
G=0.34 (11/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LAMC1 : 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 1 NC_000001.11:g.183059295G>A
GRCh37.p13 chr 1 NC_000001.10:g.183028430G>A
LAMC1 RefSeqGene NG_011463.1:g.40836G>A
Gene: LAMC1, laminin subunit gamma 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LAMC1 transcript NM_002293.4:c.418+35161G>A 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 25252 G=0.63773 A=0.36227
European Sub 20398 G=0.60785 A=0.39215
African Sub 2946 G=0.8360 A=0.1640
African Others Sub 114 G=0.904 A=0.096
African American Sub 2832 G=0.8333 A=0.1667
Asian Sub 112 G=0.411 A=0.589
East Asian Sub 86 G=0.44 A=0.56
Other Asian Sub 26 G=0.31 A=0.69
Latin American 1 Sub 146 G=0.712 A=0.288
Latin American 2 Sub 610 G=0.634 A=0.366
South Asian Sub 98 G=0.70 A=0.30
Other Sub 942 G=0.675 A=0.325


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=0.680706 A=0.319294
gnomAD - Genomes Global Study-wide 140068 G=0.666869 A=0.333131
gnomAD - Genomes European Sub 75826 G=0.58671 A=0.41329
gnomAD - Genomes African Sub 41994 G=0.83569 A=0.16431
gnomAD - Genomes American Sub 13656 G=0.64148 A=0.35852
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6252 A=0.3748
gnomAD - Genomes East Asian Sub 3124 G=0.5138 A=0.4862
gnomAD - Genomes Other Sub 2146 G=0.6445 A=0.3555
8.3KJPN JAPANESE Study-wide 16760 G=0.54320 A=0.45680
1000Genomes Global Study-wide 5008 G=0.6669 A=0.3331
1000Genomes African Sub 1322 G=0.8737 A=0.1263
1000Genomes East Asian Sub 1008 G=0.4841 A=0.5159
1000Genomes Europe Sub 1006 G=0.5915 A=0.4085
1000Genomes South Asian Sub 978 G=0.668 A=0.332
1000Genomes American Sub 694 G=0.647 A=0.353
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6230 A=0.3770
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5934 A=0.4066
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5763 A=0.4237
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5328 A=0.4672
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.599 A=0.401
Northern Sweden ACPOP Study-wide 600 G=0.597 A=0.403
SGDP_PRJ Global Study-wide 334 G=0.356 A=0.644
Qatari Global Study-wide 216 G=0.671 A=0.329
HapMap Global Study-wide 214 G=0.818 A=0.182
HapMap African Sub 116 G=0.940 A=0.060
HapMap American Sub 98 G=0.67 A=0.33
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.462 A=0.538
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
Siberian Global Study-wide 32 G=0.34 A=0.66
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 1 NC_000001.11:g.183059295= NC_000001.11:g.183059295G>A
GRCh37.p13 chr 1 NC_000001.10:g.183028430= NC_000001.10:g.183028430G>A
LAMC1 RefSeqGene NG_011463.1:g.40836= NG_011463.1:g.40836G>A
LAMC1 transcript NM_002293.3:c.418+35161= NM_002293.3:c.418+35161G>A
LAMC1 transcript NM_002293.4:c.418+35161= NM_002293.4:c.418+35161G>A
LAMC1 transcript variant X1 XM_005245149.1:c.418+35161= XM_005245149.1:c.418+35161G>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#.

60 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15411794 Feb 27, 2004 (120)
2 SC_SNP ss18069717 Feb 27, 2004 (120)
3 SC_SNP ss18135797 Feb 27, 2004 (120)
4 PERLEGEN ss24256812 Sep 20, 2004 (123)
5 BCMHGSC_JDW ss87892503 Mar 23, 2008 (129)
6 ENSEMBL ss138115910 Dec 01, 2009 (131)
7 ENSEMBL ss144151845 Dec 01, 2009 (131)
8 GMI ss156003814 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss165525828 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss167347714 Jul 04, 2010 (132)
11 BCM-HGSC-SUB ss205093006 Jul 04, 2010 (132)
12 1000GENOMES ss210468839 Jul 14, 2010 (132)
13 1000GENOMES ss218756832 Jul 14, 2010 (132)
14 1000GENOMES ss230809851 Jul 14, 2010 (132)
15 1000GENOMES ss238440118 Jul 15, 2010 (132)
16 BL ss253656730 May 09, 2011 (134)
17 GMI ss276126974 May 04, 2012 (137)
18 PJP ss290677446 May 09, 2011 (134)
19 TISHKOFF ss554927668 Apr 25, 2013 (138)
20 SSMP ss648544305 Apr 25, 2013 (138)
21 EVA-GONL ss975889314 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1068420125 Aug 21, 2014 (142)
23 1000GENOMES ss1293713525 Aug 21, 2014 (142)
24 DDI ss1426039010 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1574523651 Apr 01, 2015 (144)
26 EVA_DECODE ss1585280762 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1601636533 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1644630566 Apr 01, 2015 (144)
29 WEILL_CORNELL_DGM ss1919125093 Feb 12, 2016 (147)
30 GENOMED ss1966914881 Jul 19, 2016 (147)
31 JJLAB ss2020079158 Sep 14, 2016 (149)
32 USC_VALOUEV ss2148107045 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2168151576 Dec 20, 2016 (150)
34 TOPMED ss2330706448 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2624547794 Nov 08, 2017 (151)
36 GRF ss2698088938 Nov 08, 2017 (151)
37 GNOMAD ss2763546019 Nov 08, 2017 (151)
38 AFFY ss2984887545 Nov 08, 2017 (151)
39 AFFY ss2985532467 Nov 08, 2017 (151)
40 SWEGEN ss2988068149 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3023799156 Nov 08, 2017 (151)
42 TOPMED ss3097252869 Nov 08, 2017 (151)
43 CSHL ss3343802904 Nov 08, 2017 (151)
44 URBANLAB ss3646834143 Oct 11, 2018 (152)
45 ILLUMINA ss3653656847 Oct 11, 2018 (152)
46 EGCUT_WGS ss3656018084 Jul 12, 2019 (153)
47 EVA_DECODE ss3688166156 Jul 12, 2019 (153)
48 ACPOP ss3727656522 Jul 12, 2019 (153)
49 EVA ss3747048572 Jul 12, 2019 (153)
50 PACBIO ss3783623653 Jul 12, 2019 (153)
51 PACBIO ss3789245899 Jul 12, 2019 (153)
52 PACBIO ss3794118043 Jul 12, 2019 (153)
53 KHV_HUMAN_GENOMES ss3800049644 Jul 12, 2019 (153)
54 EVA ss3826526417 Apr 25, 2020 (154)
55 EVA ss3836659506 Apr 25, 2020 (154)
56 EVA ss3842069820 Apr 25, 2020 (154)
57 SGDP_PRJ ss3850410172 Apr 25, 2020 (154)
58 KRGDB ss3895670813 Apr 25, 2020 (154)
59 TOPMED ss4475246023 Apr 25, 2021 (155)
60 TOMMO_GENOMICS ss5147369441 Apr 25, 2021 (155)
61 1000Genomes NC_000001.10 - 183028430 Oct 11, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 183028430 Oct 11, 2018 (152)
63 Genetic variation in the Estonian population NC_000001.10 - 183028430 Oct 11, 2018 (152)
64 The Danish reference pan genome NC_000001.10 - 183028430 Apr 25, 2020 (154)
65 gnomAD - Genomes NC_000001.11 - 183059295 Apr 25, 2021 (155)
66 Genome of the Netherlands Release 5 NC_000001.10 - 183028430 Apr 25, 2020 (154)
67 HapMap NC_000001.11 - 183059295 Apr 25, 2020 (154)
68 KOREAN population from KRGDB NC_000001.10 - 183028430 Apr 25, 2020 (154)
69 Northern Sweden NC_000001.10 - 183028430 Jul 12, 2019 (153)
70 Qatari NC_000001.10 - 183028430 Apr 25, 2020 (154)
71 SGDP_PRJ NC_000001.10 - 183028430 Apr 25, 2020 (154)
72 Siberian NC_000001.10 - 183028430 Apr 25, 2020 (154)
73 8.3KJPN NC_000001.10 - 183028430 Apr 25, 2021 (155)
74 TopMed NC_000001.11 - 183059295 Apr 25, 2021 (155)
75 UK 10K study - Twins NC_000001.10 - 183028430 Oct 11, 2018 (152)
76 A Vietnamese Genetic Variation Database NC_000001.10 - 183028430 Jul 12, 2019 (153)
77 ALFA NC_000001.11 - 183059295 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).

Associated ID History Updated (Build)
rs17474722 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87892503, ss165525828, ss167347714, ss205093006, ss210468839, ss253656730, ss276126974, ss290677446, ss1585280762 NC_000001.9:181295052:G:A NC_000001.11:183059294:G:A (self)
4533234, 2485022, 1756332, 1789014, 1079400, 2848207, 941387, 1167023, 2427152, 623399, 5338748, 2485022, 532425, ss218756832, ss230809851, ss238440118, ss554927668, ss648544305, ss975889314, ss1068420125, ss1293713525, ss1426039010, ss1574523651, ss1601636533, ss1644630566, ss1919125093, ss1966914881, ss2020079158, ss2148107045, ss2330706448, ss2624547794, ss2698088938, ss2763546019, ss2984887545, ss2985532467, ss2988068149, ss3343802904, ss3653656847, ss3656018084, ss3727656522, ss3747048572, ss3783623653, ss3789245899, ss3794118043, ss3826526417, ss3836659506, ss3850410172, ss3895670813, ss5147369441 NC_000001.10:183028429:G:A NC_000001.11:183059294:G:A (self)
32725566, 218277, 24391347, 38852358, 8089968383, ss2168151576, ss3023799156, ss3097252869, ss3646834143, ss3688166156, ss3800049644, ss3842069820, ss4475246023 NC_000001.11:183059294:G:A NC_000001.11:183059294:G:A (self)
ss15411794, ss18069717, ss18135797 NT_004487.16:12076926:G:A NC_000001.11:183059294:G:A (self)
ss24256812, ss138115910, ss144151845, ss156003814 NT_004487.19:34517071:G:A NC_000001.11:183059294: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 rs10797828

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