Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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.

rs8232

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:131500635 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.068231 (18060/264690, TOPMED)
C=0.055775 (8331/149368, ALFA)
C=0.066014 (9259/140258, GnomAD) (+ 17 more)
C=0.15822 (4471/28258, 14KJPN)
C=0.15945 (2672/16758, 8.3KJPN)
C=0.0924 (592/6404, 1000G_30x)
C=0.0944 (473/5008, 1000G)
C=0.0647 (290/4480, Estonian)
C=0.0560 (216/3854, ALSPAC)
C=0.0529 (196/3708, TWINSUK)
C=0.1942 (569/2930, KOREAN)
C=0.1032 (195/1890, HapMap)
C=0.1954 (358/1832, Korea1K)
C=0.062 (62/998, GoNL)
C=0.038 (23/600, NorthernSweden)
C=0.056 (12/216, Qatari)
C=0.248 (53/214, Vietnamese)
T=0.483 (57/118, SGDP_PRJ)
C=0.10 (4/40, GENOME_DK)
T=0.3 (3/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PODXL : 3 Prime UTR 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 149368 T=0.944225 C=0.055775
European Sub 128566 T=0.945950 C=0.054050
African Sub 6676 T=0.9125 C=0.0875
African Others Sub 240 T=0.863 C=0.138
African American Sub 6436 T=0.9144 C=0.0856
Asian Sub 630 T=0.806 C=0.194
East Asian Sub 498 T=0.819 C=0.181
Other Asian Sub 132 T=0.758 C=0.242
Latin American 1 Sub 752 T=0.931 C=0.069
Latin American 2 Sub 6326 T=0.9640 C=0.0360
South Asian Sub 184 T=0.908 C=0.092
Other Sub 6234 T=0.9392 C=0.0608


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 T=0.931769 C=0.068231
Allele Frequency Aggregator Total Global 149368 T=0.944225 C=0.055775
Allele Frequency Aggregator European Sub 128566 T=0.945950 C=0.054050
Allele Frequency Aggregator African Sub 6676 T=0.9125 C=0.0875
Allele Frequency Aggregator Latin American 2 Sub 6326 T=0.9640 C=0.0360
Allele Frequency Aggregator Other Sub 6234 T=0.9392 C=0.0608
Allele Frequency Aggregator Latin American 1 Sub 752 T=0.931 C=0.069
Allele Frequency Aggregator Asian Sub 630 T=0.806 C=0.194
Allele Frequency Aggregator South Asian Sub 184 T=0.908 C=0.092
gnomAD - Genomes Global Study-wide 140258 T=0.933986 C=0.066014
gnomAD - Genomes European Sub 75952 T=0.94599 C=0.05401
gnomAD - Genomes African Sub 42034 T=0.91290 C=0.08710
gnomAD - Genomes American Sub 13662 T=0.96326 C=0.03674
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9458 C=0.0542
gnomAD - Genomes East Asian Sub 3134 T=0.7920 C=0.2080
gnomAD - Genomes Other Sub 2154 T=0.9248 C=0.0752
14KJPN JAPANESE Study-wide 28258 T=0.84178 C=0.15822
8.3KJPN JAPANESE Study-wide 16758 T=0.84055 C=0.15945
1000Genomes_30x Global Study-wide 6404 T=0.9076 C=0.0924
1000Genomes_30x African Sub 1786 T=0.9099 C=0.0901
1000Genomes_30x Europe Sub 1266 T=0.9336 C=0.0664
1000Genomes_30x South Asian Sub 1202 T=0.8943 C=0.1057
1000Genomes_30x East Asian Sub 1170 T=0.8462 C=0.1538
1000Genomes_30x American Sub 980 T=0.959 C=0.041
1000Genomes Global Study-wide 5008 T=0.9056 C=0.0944
1000Genomes African Sub 1322 T=0.9062 C=0.0938
1000Genomes East Asian Sub 1008 T=0.8442 C=0.1558
1000Genomes Europe Sub 1006 T=0.9374 C=0.0626
1000Genomes South Asian Sub 978 T=0.895 C=0.105
1000Genomes American Sub 694 T=0.963 C=0.037
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9353 C=0.0647
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9440 C=0.0560
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9471 C=0.0529
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8058 C=0.1942
HapMap Global Study-wide 1890 T=0.8968 C=0.1032
HapMap American Sub 768 T=0.900 C=0.100
HapMap African Sub 692 T=0.896 C=0.104
HapMap Asian Sub 254 T=0.854 C=0.146
HapMap Europe Sub 176 T=0.949 C=0.051
Korean Genome Project KOREAN Study-wide 1832 T=0.8046 C=0.1954
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.938 C=0.062
Northern Sweden ACPOP Study-wide 600 T=0.962 C=0.038
Qatari Global Study-wide 216 T=0.944 C=0.056
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.752 C=0.248
SGDP_PRJ Global Study-wide 118 T=0.483 C=0.517
The Danish reference pan genome Danish Study-wide 40 T=0.90 C=0.10
Siberian Global Study-wide 10 T=0.3 C=0.7
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 7 NC_000007.14:g.131500635T>C
GRCh37.p13 chr 7 NC_000007.13:g.131185394T>C
PODXL RefSeqGene NG_042104.1:g.60983A>G
Gene: PODXL, podocalyxin like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PODXL transcript variant 1 NM_001018111.3:c.*3676= N/A 3 Prime UTR Variant
PODXL transcript variant 2 NM_005397.4:c.*3676= 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.

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 T= C
GRCh38.p14 chr 7 NC_000007.14:g.131500635= NC_000007.14:g.131500635T>C
GRCh37.p13 chr 7 NC_000007.13:g.131185394= NC_000007.13:g.131185394T>C
PODXL RefSeqGene NG_042104.1:g.60983= NG_042104.1:g.60983A>G
PODXL transcript variant 2 NM_005397.4:c.*3676= NM_005397.4:c.*3676A>G
PODXL transcript variant 2 NM_005397.3:c.*3676= NM_005397.3:c.*3676A>G
PODXL transcript variant 1 NM_001018111.3:c.*3676= NM_001018111.3:c.*3676A>G
PODXL transcript variant 1 NM_001018111.2:c.*3676= NM_001018111.2:c.*3676A>G
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#.

98 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1515000 Oct 05, 2000 (92)
2 LEE ss4407923 May 29, 2002 (106)
3 YUSUKE ss4964892 Aug 28, 2002 (108)
4 WI_SSAHASNP ss11873263 Jul 11, 2003 (116)
5 CGAP-GAI ss16223768 Feb 28, 2004 (121)
6 PERLEGEN ss38338853 May 24, 2005 (125)
7 ILLUMINA ss65735869 Oct 16, 2006 (127)
8 ILLUMINA ss74909163 Dec 07, 2007 (129)
9 HGSV ss83850548 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss102643999 Feb 05, 2009 (130)
11 BGI ss104468816 Dec 01, 2009 (131)
12 1000GENOMES ss114441487 Jan 25, 2009 (130)
13 ILLUMINA ss160955312 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss165415425 Jul 04, 2010 (132)
15 ILLUMINA ss174739469 Jul 04, 2010 (132)
16 BUSHMAN ss198285062 Jul 04, 2010 (132)
17 1000GENOMES ss223336300 Jul 14, 2010 (132)
18 1000GENOMES ss234171921 Jul 15, 2010 (132)
19 1000GENOMES ss241084104 Jul 15, 2010 (132)
20 BL ss254683294 May 09, 2011 (134)
21 GMI ss475715568 May 04, 2012 (137)
22 ILLUMINA ss481800496 May 04, 2012 (137)
23 ILLUMINA ss481832930 May 04, 2012 (137)
24 ILLUMINA ss482794614 Sep 08, 2015 (146)
25 ILLUMINA ss485694918 May 04, 2012 (137)
26 ILLUMINA ss537562023 Sep 08, 2015 (146)
27 TISHKOFF ss560310584 Apr 25, 2013 (138)
28 SSMP ss654721688 Apr 25, 2013 (138)
29 ILLUMINA ss779060195 Aug 21, 2014 (142)
30 ILLUMINA ss783293029 Sep 08, 2015 (146)
31 ILLUMINA ss784245565 Aug 21, 2014 (142)
32 ILLUMINA ss832554301 Sep 08, 2015 (146)
33 ILLUMINA ss834523368 Aug 21, 2014 (142)
34 EVA-GONL ss984813165 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1074991867 Aug 21, 2014 (142)
36 1000GENOMES ss1327195314 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1582407528 Apr 01, 2015 (144)
38 EVA_DECODE ss1594401827 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1619245929 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1662239962 Apr 01, 2015 (144)
41 EVA_SVP ss1712988304 Apr 01, 2015 (144)
42 ILLUMINA ss1752664478 Sep 08, 2015 (146)
43 HAMMER_LAB ss1805224723 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1928070179 Feb 12, 2016 (147)
45 JJLAB ss2024724090 Sep 14, 2016 (149)
46 USC_VALOUEV ss2152945690 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2297983750 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2626849363 Nov 08, 2017 (151)
49 ILLUMINA ss2634661480 Nov 08, 2017 (151)
50 GRF ss2708664447 Nov 08, 2017 (151)
51 GNOMAD ss2859287340 Nov 08, 2017 (151)
52 SWEGEN ss3002059048 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3026151134 Nov 08, 2017 (151)
54 CSHL ss3347850458 Nov 08, 2017 (151)
55 ILLUMINA ss3629916530 Oct 12, 2018 (152)
56 ILLUMINA ss3632565661 Oct 12, 2018 (152)
57 ILLUMINA ss3633478278 Oct 12, 2018 (152)
58 ILLUMINA ss3634203951 Oct 12, 2018 (152)
59 ILLUMINA ss3635142106 Oct 12, 2018 (152)
60 ILLUMINA ss3635883355 Oct 12, 2018 (152)
61 ILLUMINA ss3636876983 Oct 12, 2018 (152)
62 ILLUMINA ss3637636403 Oct 12, 2018 (152)
63 ILLUMINA ss3638724549 Oct 12, 2018 (152)
64 ILLUMINA ss3640849397 Oct 12, 2018 (152)
65 ILLUMINA ss3643658317 Oct 12, 2018 (152)
66 EGCUT_WGS ss3669814897 Jul 13, 2019 (153)
67 EVA_DECODE ss3720722519 Jul 13, 2019 (153)
68 ACPOP ss3735084822 Jul 13, 2019 (153)
69 ILLUMINA ss3745442099 Jul 13, 2019 (153)
70 EVA ss3767177860 Jul 13, 2019 (153)
71 ILLUMINA ss3772934836 Jul 13, 2019 (153)
72 PACBIO ss3785962321 Jul 13, 2019 (153)
73 PACBIO ss3791240353 Jul 13, 2019 (153)
74 PACBIO ss3796120516 Jul 13, 2019 (153)
75 KHV_HUMAN_GENOMES ss3810347422 Jul 13, 2019 (153)
76 EVA ss3830827405 Apr 26, 2020 (154)
77 EVA ss3838912808 Apr 26, 2020 (154)
78 EVA ss3844369445 Apr 26, 2020 (154)
79 SGDP_PRJ ss3868428020 Apr 26, 2020 (154)
80 KRGDB ss3915782356 Apr 26, 2020 (154)
81 KOGIC ss3962612762 Apr 26, 2020 (154)
82 EVA ss3986041457 Apr 26, 2021 (155)
83 EVA ss4017359856 Apr 26, 2021 (155)
84 TOPMED ss4764311410 Apr 26, 2021 (155)
85 TOMMO_GENOMICS ss5185655000 Apr 26, 2021 (155)
86 1000G_HIGH_COVERAGE ss5274793103 Oct 13, 2022 (156)
87 EVA ss5315279733 Oct 13, 2022 (156)
88 HUGCELL_USP ss5471673434 Oct 13, 2022 (156)
89 EVA ss5509142733 Oct 13, 2022 (156)
90 1000G_HIGH_COVERAGE ss5563978552 Oct 13, 2022 (156)
91 SANFORD_IMAGENETICS ss5644017388 Oct 13, 2022 (156)
92 TOMMO_GENOMICS ss5726671031 Oct 13, 2022 (156)
93 EVA ss5799737260 Oct 13, 2022 (156)
94 YY_MCH ss5809106140 Oct 13, 2022 (156)
95 EVA ss5823547075 Oct 13, 2022 (156)
96 EVA ss5856102969 Oct 13, 2022 (156)
97 EVA ss5860946094 Oct 13, 2022 (156)
98 EVA ss5973216276 Oct 13, 2022 (156)
99 1000Genomes NC_000007.13 - 131185394 Oct 12, 2018 (152)
100 1000Genomes_30x NC_000007.14 - 131500635 Oct 13, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 131185394 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000007.13 - 131185394 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000007.13 - 131185394 Apr 26, 2020 (154)
104 gnomAD - Genomes NC_000007.14 - 131500635 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000007.13 - 131185394 Apr 26, 2020 (154)
106 HapMap NC_000007.14 - 131500635 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000007.13 - 131185394 Apr 26, 2020 (154)
108 Korean Genome Project NC_000007.14 - 131500635 Apr 26, 2020 (154)
109 Northern Sweden NC_000007.13 - 131185394 Jul 13, 2019 (153)
110 Qatari NC_000007.13 - 131185394 Apr 26, 2020 (154)
111 SGDP_PRJ NC_000007.13 - 131185394 Apr 26, 2020 (154)
112 Siberian NC_000007.13 - 131185394 Apr 26, 2020 (154)
113 8.3KJPN NC_000007.13 - 131185394 Apr 26, 2021 (155)
114 14KJPN NC_000007.14 - 131500635 Oct 13, 2022 (156)
115 TopMed NC_000007.14 - 131500635 Apr 26, 2021 (155)
116 UK 10K study - Twins NC_000007.13 - 131185394 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000007.13 - 131185394 Jul 13, 2019 (153)
118 ALFA NC_000007.14 - 131500635 Apr 26, 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)
rs1045112 Jan 18, 2001 (92)
rs3184946 Jul 03, 2002 (106)
rs3778825 Oct 08, 2002 (108)
rs11537945 Apr 05, 2004 (121)
rs59339873 May 25, 2008 (130)
rs118009925 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83850548 NC_000007.11:130642648:T:C NC_000007.14:131500634:T:C (self)
ss114441487, ss160955312, ss165415425, ss198285062, ss254683294, ss475715568, ss481800496, ss1594401827, ss1712988304, ss3643658317 NC_000007.12:130835933:T:C NC_000007.14:131500634:T:C (self)
39241665, 21834441, 15553145, 8572466, 9743180, 22959750, 8369687, 10112109, 20445000, 5462044, 43624307, 21834441, 4863726, ss223336300, ss234171921, ss241084104, ss481832930, ss482794614, ss485694918, ss537562023, ss560310584, ss654721688, ss779060195, ss783293029, ss784245565, ss832554301, ss834523368, ss984813165, ss1074991867, ss1327195314, ss1582407528, ss1619245929, ss1662239962, ss1752664478, ss1805224723, ss1928070179, ss2024724090, ss2152945690, ss2626849363, ss2634661480, ss2708664447, ss2859287340, ss3002059048, ss3347850458, ss3629916530, ss3632565661, ss3633478278, ss3634203951, ss3635142106, ss3635883355, ss3636876983, ss3637636403, ss3638724549, ss3640849397, ss3669814897, ss3735084822, ss3745442099, ss3767177860, ss3772934836, ss3785962321, ss3791240353, ss3796120516, ss3830827405, ss3838912808, ss3868428020, ss3915782356, ss3986041457, ss4017359856, ss5185655000, ss5315279733, ss5509142733, ss5644017388, ss5799737260, ss5823547075, ss5973216276 NC_000007.13:131185393:T:C NC_000007.14:131500634:T:C (self)
51504487, 277118573, 3495966, 18990763, 60508135, 601688969, 857520540, ss2297983750, ss3026151134, ss3720722519, ss3810347422, ss3844369445, ss3962612762, ss4764311410, ss5274793103, ss5471673434, ss5563978552, ss5726671031, ss5809106140, ss5856102969, ss5860946094 NC_000007.14:131500634:T:C NC_000007.14:131500634:T:C (self)
ss11873263 NT_007933.12:56223828:T:C NC_000007.14:131500634:T:C (self)
ss1515000, ss4407923, ss4964892, ss16223768, ss38338853, ss65735869, ss74909163, ss102643999, ss104468816, ss174739469 NT_007933.15:69218236:T:C NC_000007.14:131500634:T:C (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 rs8232

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