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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.

rs4148167

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr11:119154221 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.100884 (26703/264690, TOPMED)
G=0.098889 (24824/251028, GnomAD_exome)
G=0.095573 (13395/140154, GnomAD) (+ 21 more)
G=0.104104 (12622/121244, ExAC)
G=0.11892 (9358/78692, PAGE_STUDY)
G=0.08505 (4120/48440, ALFA)
G=0.11523 (1931/16758, 8.3KJPN)
G=0.10470 (1360/12990, GO-ESP)
G=0.1538 (770/5008, 1000G)
G=0.0324 (145/4480, Estonian)
G=0.0760 (293/3854, ALSPAC)
G=0.0779 (289/3708, TWINSUK)
G=0.0414 (121/2922, KOREAN)
G=0.063 (63/998, GoNL)
G=0.075 (45/600, NorthernSweden)
G=0.076 (45/596, Vietnamese)
G=0.067 (36/534, MGP)
G=0.026 (8/304, FINRISK)
G=0.102 (22/216, Qatari)
A=0.426 (52/122, SGDP_PRJ)
G=0.06 (4/72, Ancient Sardinia)
G=0.03 (1/40, GENOME_DK)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCG4 : 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.119154221A>G
GRCh37.p13 chr 11 NC_000011.9:g.119024931A>G
ABCG4 RefSeqGene NG_047178.1:g.10182A>G
Gene: ABCG4, ATP binding cassette subfamily G member 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCG4 transcript variant 2 NM_001142505.1:c.357-39A>G N/A Intron Variant
ABCG4 transcript variant 3 NM_001348191.2:c.357-39A>G N/A Intron Variant
ABCG4 transcript variant 4 NM_001348192.2:c.174-39A>G N/A Intron Variant
ABCG4 transcript variant 1 NM_022169.5:c.357-39A>G N/A Intron Variant
ABCG4 transcript variant X1 XM_011542952.2:c.165-39A>G 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 (New)
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 48440 A=0.91495 G=0.08505
European Sub 36026 A=0.92500 G=0.07500
African Sub 4376 A=0.8505 G=0.1495
African Others Sub 150 A=0.787 G=0.213
African American Sub 4226 A=0.8528 G=0.1472
Asian Sub 522 A=0.914 G=0.086
East Asian Sub 424 A=0.927 G=0.073
Other Asian Sub 98 A=0.86 G=0.14
Latin American 1 Sub 284 A=0.873 G=0.127
Latin American 2 Sub 1366 A=0.9327 G=0.0673
South Asian Sub 160 A=0.750 G=0.250
Other Sub 5706 A=0.9034 G=0.0966


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 A=0.899116 G=0.100884
gnomAD - Exomes Global Study-wide 251028 A=0.901111 G=0.098889
gnomAD - Exomes European Sub 135100 A=0.935973 G=0.064027
gnomAD - Exomes Asian Sub 48996 A=0.79317 G=0.20683
gnomAD - Exomes American Sub 34534 A=0.95170 G=0.04830
gnomAD - Exomes African Sub 16246 A=0.83824 G=0.16176
gnomAD - Exomes Ashkenazi Jewish Sub 10030 A=0.88285 G=0.11715
gnomAD - Exomes Other Sub 6122 A=0.9071 G=0.0929
gnomAD - Genomes Global Study-wide 140154 A=0.904427 G=0.095573
gnomAD - Genomes European Sub 75930 A=0.93590 G=0.06410
gnomAD - Genomes African Sub 41974 A=0.83940 G=0.16060
gnomAD - Genomes American Sub 13646 A=0.92555 G=0.07445
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.8905 G=0.1095
gnomAD - Genomes East Asian Sub 3130 A=0.9380 G=0.0620
gnomAD - Genomes Other Sub 2150 A=0.9009 G=0.0991
ExAC Global Study-wide 121244 A=0.895896 G=0.104104
ExAC Europe Sub 73264 A=0.93256 G=0.06744
ExAC Asian Sub 25126 A=0.78528 G=0.21472
ExAC American Sub 11546 A=0.95488 G=0.04512
ExAC African Sub 10402 A=0.83772 G=0.16228
ExAC Other Sub 906 A=0.915 G=0.085
The PAGE Study Global Study-wide 78692 A=0.88108 G=0.11892
The PAGE Study AfricanAmerican Sub 32512 A=0.84261 G=0.15739
The PAGE Study Mexican Sub 10806 A=0.94188 G=0.05812
The PAGE Study Asian Sub 8318 A=0.8717 G=0.1283
The PAGE Study PuertoRican Sub 7918 A=0.9198 G=0.0802
The PAGE Study NativeHawaiian Sub 4534 A=0.9281 G=0.0719
The PAGE Study Cuban Sub 4228 A=0.8985 G=0.1015
The PAGE Study Dominican Sub 3828 A=0.8790 G=0.1210
The PAGE Study CentralAmerican Sub 2450 A=0.9380 G=0.0620
The PAGE Study SouthAmerican Sub 1982 A=0.9258 G=0.0742
The PAGE Study NativeAmerican Sub 1260 A=0.9262 G=0.0738
The PAGE Study SouthAsian Sub 856 A=0.648 G=0.352
8.3KJPN JAPANESE Study-wide 16758 A=0.88477 G=0.11523
GO Exome Sequencing Project Global Study-wide 12990 A=0.89530 G=0.10470
GO Exome Sequencing Project European American Sub 8590 A=0.9240 G=0.0760
GO Exome Sequencing Project African American Sub 4400 A=0.8393 G=0.1607
1000Genomes Global Study-wide 5008 A=0.8462 G=0.1538
1000Genomes African Sub 1322 A=0.8275 G=0.1725
1000Genomes East Asian Sub 1008 A=0.9127 G=0.0873
1000Genomes Europe Sub 1006 A=0.9145 G=0.0855
1000Genomes South Asian Sub 978 A=0.667 G=0.333
1000Genomes American Sub 694 A=0.939 G=0.061
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9676 G=0.0324
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9240 G=0.0760
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9221 G=0.0779
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9586 G=0.0414
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.937 G=0.063
Northern Sweden ACPOP Study-wide 600 A=0.925 G=0.075
A Vietnamese Genetic Variation Database Global Study-wide 596 A=0.924 G=0.076
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.933 G=0.067
FINRISK Finnish from FINRISK project Study-wide 304 A=0.974 G=0.026
Qatari Global Study-wide 216 A=0.898 G=0.102
SGDP_PRJ Global Study-wide 122 A=0.426 G=0.574
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 A=0.94 G=0.06
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
Siberian Global Study-wide 2 A=0.5 G=0.5
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 A= G
GRCh38.p13 chr 11 NC_000011.10:g.119154221= NC_000011.10:g.119154221A>G
GRCh37.p13 chr 11 NC_000011.9:g.119024931= NC_000011.9:g.119024931A>G
ABCG4 RefSeqGene NG_047178.1:g.10182= NG_047178.1:g.10182A>G
ABCG4 transcript variant 2 NM_001142505.1:c.357-39= NM_001142505.1:c.357-39A>G
ABCG4 transcript variant 3 NM_001348191.2:c.357-39= NM_001348191.2:c.357-39A>G
ABCG4 transcript variant 4 NM_001348192.2:c.174-39= NM_001348192.2:c.174-39A>G
ABCG4 transcript variant 1 NM_022169.4:c.357-39= NM_022169.4:c.357-39A>G
ABCG4 transcript variant 1 NM_022169.5:c.357-39= NM_022169.5:c.357-39A>G
ABCG4 transcript variant X1 XM_011542952.2:c.165-39= XM_011542952.2:c.165-39A>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#.

75 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 RIKENSNPRC ss5601902 Dec 16, 2002 (110)
2 HGSV ss83081016 Dec 16, 2007 (130)
3 1000GENOMES ss115256514 Jan 25, 2009 (130)
4 ILLUMINA ss152536408 Dec 01, 2009 (131)
5 ILLUMINA ss159102635 Dec 01, 2009 (131)
6 ILLUMINA ss159846003 Dec 01, 2009 (131)
7 ILLUMINA ss168870944 Jul 04, 2010 (132)
8 COMPLETE_GENOMICS ss170996603 Jul 04, 2010 (132)
9 BUSHMAN ss203280503 Jul 04, 2010 (132)
10 1000GENOMES ss225491679 Jul 14, 2010 (132)
11 1000GENOMES ss235741086 Jul 15, 2010 (132)
12 1000GENOMES ss242335449 Jul 15, 2010 (132)
13 GMI ss281192586 May 04, 2012 (137)
14 ILLUMINA ss479154445 Sep 08, 2015 (146)
15 1000GENOMES ss491030867 May 04, 2012 (137)
16 CLINSEQ_SNP ss491655338 May 04, 2012 (137)
17 ILLUMINA ss535359560 Sep 08, 2015 (146)
18 TISHKOFF ss562860205 Apr 25, 2013 (138)
19 SSMP ss658385293 Apr 25, 2013 (138)
20 NHLBI-ESP ss713062369 Apr 25, 2013 (138)
21 ILLUMINA ss832615431 Aug 21, 2014 (142)
22 ILLUMINA ss833206120 Aug 21, 2014 (142)
23 EVA-GONL ss989021020 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1067528939 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1078088824 Aug 21, 2014 (142)
26 1000GENOMES ss1343190950 Aug 21, 2014 (142)
27 DDI ss1426779265 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1575986411 Apr 01, 2015 (144)
29 EVA_FINRISK ss1584078531 Apr 01, 2015 (144)
30 EVA_DECODE ss1598688345 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1627584400 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1670578433 Apr 01, 2015 (144)
33 EVA_EXAC ss1690669540 Apr 01, 2015 (144)
34 EVA_MGP ss1711311289 Apr 01, 2015 (144)
35 HAMMER_LAB ss1807022252 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1932383501 Feb 12, 2016 (147)
37 ILLUMINA ss1959391789 Feb 12, 2016 (147)
38 JJLAB ss2026935813 Sep 14, 2016 (149)
39 USC_VALOUEV ss2155250725 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2186172472 Dec 20, 2016 (150)
41 TOPMED ss2349765457 Dec 20, 2016 (150)
42 GRF ss2699562713 Nov 08, 2017 (151)
43 GNOMAD ss2739446414 Nov 08, 2017 (151)
44 GNOMAD ss2748756668 Nov 08, 2017 (151)
45 GNOMAD ss2905091476 Nov 08, 2017 (151)
46 SWEGEN ss3008871225 Nov 08, 2017 (151)
47 ILLUMINA ss3021382655 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3027269221 Nov 08, 2017 (151)
49 TOPMED ss3157849241 Nov 08, 2017 (151)
50 CSHL ss3349821757 Nov 08, 2017 (151)
51 ILLUMINA ss3626763706 Oct 12, 2018 (152)
52 ILLUMINA ss3636162860 Oct 12, 2018 (152)
53 ILLUMINA ss3637934050 Oct 12, 2018 (152)
54 OMUKHERJEE_ADBS ss3646433718 Oct 12, 2018 (152)
55 ILLUMINA ss3651751809 Oct 12, 2018 (152)
56 EGCUT_WGS ss3676199336 Jul 13, 2019 (153)
57 EVA_DECODE ss3692709928 Jul 13, 2019 (153)
58 ILLUMINA ss3725282230 Jul 13, 2019 (153)
59 ACPOP ss3738588691 Jul 13, 2019 (153)
60 EVA ss3749882238 Jul 13, 2019 (153)
61 PAGE_CC ss3771657388 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3815210124 Jul 13, 2019 (153)
63 EVA ss3824679210 Apr 26, 2020 (154)
64 EVA ss3825811080 Apr 26, 2020 (154)
65 EVA ss3832867214 Apr 26, 2020 (154)
66 EVA ss3839996431 Apr 26, 2020 (154)
67 EVA ss3845478414 Apr 26, 2020 (154)
68 SGDP_PRJ ss3877253006 Apr 26, 2020 (154)
69 KRGDB ss3925721872 Apr 26, 2020 (154)
70 FSA-LAB ss3984015255 Apr 26, 2021 (155)
71 EVA ss3985560915 Apr 26, 2021 (155)
72 EVA ss3986548447 Apr 26, 2021 (155)
73 TOPMED ss4901920956 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5204144677 Apr 26, 2021 (155)
75 EVA ss5237502289 Apr 26, 2021 (155)
76 1000Genomes NC_000011.9 - 119024931 Oct 12, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 119024931 Oct 12, 2018 (152)
78 Genetic variation in the Estonian population NC_000011.9 - 119024931 Oct 12, 2018 (152)
79 ExAC NC_000011.9 - 119024931 Oct 12, 2018 (152)
80 FINRISK NC_000011.9 - 119024931 Apr 26, 2020 (154)
81 The Danish reference pan genome NC_000011.9 - 119024931 Apr 26, 2020 (154)
82 gnomAD - Genomes NC_000011.10 - 119154221 Apr 26, 2021 (155)
83 gnomAD - Exomes NC_000011.9 - 119024931 Jul 13, 2019 (153)
84 GO Exome Sequencing Project NC_000011.9 - 119024931 Oct 12, 2018 (152)
85 Genome of the Netherlands Release 5 NC_000011.9 - 119024931 Apr 26, 2020 (154)
86 KOREAN population from KRGDB NC_000011.9 - 119024931 Apr 26, 2020 (154)
87 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 119024931 Apr 26, 2020 (154)
88 Northern Sweden NC_000011.9 - 119024931 Jul 13, 2019 (153)
89 The PAGE Study NC_000011.10 - 119154221 Jul 13, 2019 (153)
90 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 119024931 Apr 26, 2021 (155)
91 Qatari NC_000011.9 - 119024931 Apr 26, 2020 (154)
92 SGDP_PRJ NC_000011.9 - 119024931 Apr 26, 2020 (154)
93 Siberian NC_000011.9 - 119024931 Apr 26, 2020 (154)
94 8.3KJPN NC_000011.9 - 119024931 Apr 26, 2021 (155)
95 TopMed NC_000011.10 - 119154221 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000011.9 - 119024931 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000011.9 - 119024931 Jul 13, 2019 (153)
98 ALFA NC_000011.10 - 119154221 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)
rs61622450 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83081016, ss115256514, ss159846003, ss170996603, ss203280503, ss281192586, ss491655338, ss1598688345 NC_000011.8:118530140:A:G NC_000011.10:119154220:A:G (self)
55781260, 30965825, 21937584, 948261, 74992, 2758295, 8666623, 1136729, 13816352, 32899266, 427049, 11873556, 786842, 14425431, 29269986, 7767079, 62113984, 30965825, 6871368, ss225491679, ss235741086, ss242335449, ss479154445, ss491030867, ss535359560, ss562860205, ss658385293, ss713062369, ss832615431, ss833206120, ss989021020, ss1067528939, ss1078088824, ss1343190950, ss1426779265, ss1575986411, ss1584078531, ss1627584400, ss1670578433, ss1690669540, ss1711311289, ss1807022252, ss1932383501, ss1959391789, ss2026935813, ss2155250725, ss2349765457, ss2699562713, ss2739446414, ss2748756668, ss2905091476, ss3008871225, ss3021382655, ss3349821757, ss3626763706, ss3636162860, ss3637934050, ss3646433718, ss3651751809, ss3676199336, ss3738588691, ss3749882238, ss3824679210, ss3825811080, ss3832867214, ss3839996431, ss3877253006, ss3925721872, ss3984015255, ss3985560915, ss3986548447, ss5204144677, ss5237502289 NC_000011.9:119024930:A:G NC_000011.10:119154220:A:G (self)
393586440, 878857, 73629954, 117466612, 3940190938, ss2186172472, ss3027269221, ss3157849241, ss3692709928, ss3725282230, ss3771657388, ss3815210124, ss3845478414, ss4901920956 NC_000011.10:119154220:A:G NC_000011.10:119154220:A:G (self)
ss5601902, ss152536408, ss159102635, ss168870944 NT_033899.8:22587346:A:G NC_000011.10:119154220:A:G (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 rs4148167

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