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.

rs304914

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:79374980 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000351 (93/264690, TOPMED)
G=0.000328 (46/140256, GnomAD)
G=0.00062 (9/14420, ALFA) (+ 3 more)
G=0.0008 (3/3854, ALSPAC)
G=0.0011 (4/3708, TWINSUK)
G=0.000 (0/330, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP9B : 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 14420 A=0.99938 G=0.00062
European Sub 9824 A=0.9992 G=0.0008
African Sub 2946 A=0.9997 G=0.0003
African Others Sub 114 A=1.000 G=0.000
African American Sub 2832 A=0.9996 G=0.0004
Asian Sub 112 A=1.000 G=0.000
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 684 A=1.000 G=0.000


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=0.999649 G=0.000351
gnomAD - Genomes Global Study-wide 140256 A=0.999672 G=0.000328
gnomAD - Genomes European Sub 75956 A=0.99961 G=0.00039
gnomAD - Genomes African Sub 42040 A=0.99995 G=0.00005
gnomAD - Genomes American Sub 13652 A=0.99927 G=0.00073
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 A=0.9981 G=0.0019
Allele Frequency Aggregator Total Global 14420 A=0.99938 G=0.00062
Allele Frequency Aggregator European Sub 9824 A=0.9992 G=0.0008
Allele Frequency Aggregator African Sub 2946 A=0.9997 G=0.0003
Allele Frequency Aggregator Other Sub 684 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9992 G=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9989 G=0.0011
HapMap Global Study-wide 330 A=1.000 G=0.000
HapMap African Sub 120 A=1.000 G=0.000
HapMap American Sub 120 A=1.000 G=0.000
HapMap Asian Sub 90 A=1.00 G=0.00
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 18 NC_000018.10:g.79374980A>G
GRCh37.p13 chr 18 NC_000018.9:g.77134980A>G
Gene: ATP9B, ATPase phospholipid transporting 9B (putative) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP9B transcript variant 2 NM_001306085.2:c.3274+879…

NM_001306085.2:c.3274+879A>G

N/A Intron Variant
ATP9B transcript variant 1 NM_198531.5:c.3275-414A>G N/A Intron Variant
ATP9B transcript variant 3 NR_148360.2:n. N/A Intron Variant
ATP9B transcript variant X1 XM_011525963.3:c.3356-414…

XM_011525963.3:c.3356-414A>G

N/A Intron Variant
ATP9B transcript variant X2 XM_011525964.3:c.3353-414…

XM_011525964.3:c.3353-414A>G

N/A Intron Variant
ATP9B transcript variant X10 XM_011525966.3:c.3236-414…

XM_011525966.3:c.3236-414A>G

N/A Intron Variant
ATP9B transcript variant X28 XM_011525971.3:c.2753-414…

XM_011525971.3:c.2753-414A>G

N/A Intron Variant
ATP9B transcript variant X29 XM_011525972.3:c.2606-414…

XM_011525972.3:c.2606-414A>G

N/A Intron Variant
ATP9B transcript variant X30 XM_011525973.3:c.2483-414…

XM_011525973.3:c.2483-414A>G

N/A Intron Variant
ATP9B transcript variant X31 XM_011525974.3:c.2435-414…

XM_011525974.3:c.2435-414A>G

N/A Intron Variant
ATP9B transcript variant X3 XM_017025726.2:c.3356-414…

XM_017025726.2:c.3356-414A>G

N/A Intron Variant
ATP9B transcript variant X4 XM_017025727.2:c.3355+879…

XM_017025727.2:c.3355+879A>G

N/A Intron Variant
ATP9B transcript variant X6 XM_017025728.3:c.3278-414…

XM_017025728.3:c.3278-414A>G

N/A Intron Variant
ATP9B transcript variant X7 XM_017025729.2:c.3356-414…

XM_017025729.2:c.3356-414A>G

N/A Intron Variant
ATP9B transcript variant X8 XM_017025730.2:c.3277+879…

XM_017025730.2:c.3277+879A>G

N/A Intron Variant
ATP9B transcript variant X11 XM_017025731.2:c.3233-414…

XM_017025731.2:c.3233-414A>G

N/A Intron Variant
ATP9B transcript variant X13 XM_017025732.2:c.3155-414…

XM_017025732.2:c.3155-414A>G

N/A Intron Variant
ATP9B transcript variant X16 XM_017025733.2:c.3154+879…

XM_017025733.2:c.3154+879A>G

N/A Intron Variant
ATP9B transcript variant X5 XM_047437489.1:c.3352+879…

XM_047437489.1:c.3352+879A>G

N/A Intron Variant
ATP9B transcript variant X9 XM_047437490.1:c.3236-414…

XM_047437490.1:c.3236-414A>G

N/A Intron Variant
ATP9B transcript variant X12 XM_047437491.1:c.3158-414…

XM_047437491.1:c.3158-414A>G

N/A Intron Variant
ATP9B transcript variant X14 XM_047437492.1:c.3152-414…

XM_047437492.1:c.3152-414A>G

N/A Intron Variant
ATP9B transcript variant X15 XM_047437493.1:c.3157+879…

XM_047437493.1:c.3157+879A>G

N/A Intron Variant
ATP9B transcript variant X17 XM_047437494.1:c.3151+879…

XM_047437494.1:c.3151+879A>G

N/A Intron Variant
ATP9B transcript variant X32 XM_047437501.1:c.2171-414…

XM_047437501.1:c.2171-414A>G

N/A Intron Variant
ATP9B transcript variant X33 XM_047437502.1:c.2066-414…

XM_047437502.1:c.2066-414A>G

N/A Intron Variant
ATP9B transcript variant X18 XM_017025734.2:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X19 XM_017025735.3:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X21 XM_017025736.3:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X24 XM_017025737.2:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X34 XM_017025742.2:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X20 XM_047437495.1:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X22 XM_047437496.1:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X23 XM_047437497.1:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X25 XM_047437498.1:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X26 XM_047437499.1:c. N/A Genic Downstream Transcript Variant
ATP9B transcript variant X27 XM_047437500.1:c. N/A Genic Downstream 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 A= G
GRCh38.p14 chr 18 NC_000018.10:g.79374980= NC_000018.10:g.79374980A>G
GRCh37.p13 chr 18 NC_000018.9:g.77134980= NC_000018.9:g.77134980A>G
ATP9B transcript variant 2 NM_001306085.2:c.3274+879= NM_001306085.2:c.3274+879A>G
ATP9B transcript NM_198531.3:c.3275-414= NM_198531.3:c.3275-414A>G
ATP9B transcript variant 1 NM_198531.5:c.3275-414= NM_198531.5:c.3275-414A>G
ATP9B transcript variant X1 XM_005266690.1:c.3275-414= XM_005266690.1:c.3275-414A>G
ATP9B transcript variant X10 XM_005266691.1:c.3274+879= XM_005266691.1:c.3274+879A>G
ATP9B transcript variant X3 XM_005266692.1:c.3275-414= XM_005266692.1:c.3275-414A>G
ATP9B transcript variant X4 XM_005266693.1:c.3152-414= XM_005266693.1:c.3152-414A>G
ATP9B transcript variant X7 XM_005266696.1:c.2195-414= XM_005266696.1:c.2195-414A>G
ATP9B transcript variant X1 XM_011525963.3:c.3356-414= XM_011525963.3:c.3356-414A>G
ATP9B transcript variant X2 XM_011525964.3:c.3353-414= XM_011525964.3:c.3353-414A>G
ATP9B transcript variant X10 XM_011525966.3:c.3236-414= XM_011525966.3:c.3236-414A>G
ATP9B transcript variant X28 XM_011525971.3:c.2753-414= XM_011525971.3:c.2753-414A>G
ATP9B transcript variant X29 XM_011525972.3:c.2606-414= XM_011525972.3:c.2606-414A>G
ATP9B transcript variant X30 XM_011525973.3:c.2483-414= XM_011525973.3:c.2483-414A>G
ATP9B transcript variant X31 XM_011525974.3:c.2435-414= XM_011525974.3:c.2435-414A>G
ATP9B transcript variant X3 XM_017025726.2:c.3356-414= XM_017025726.2:c.3356-414A>G
ATP9B transcript variant X4 XM_017025727.2:c.3355+879= XM_017025727.2:c.3355+879A>G
ATP9B transcript variant X6 XM_017025728.3:c.3278-414= XM_017025728.3:c.3278-414A>G
ATP9B transcript variant X7 XM_017025729.2:c.3356-414= XM_017025729.2:c.3356-414A>G
ATP9B transcript variant X8 XM_017025730.2:c.3277+879= XM_017025730.2:c.3277+879A>G
ATP9B transcript variant X11 XM_017025731.2:c.3233-414= XM_017025731.2:c.3233-414A>G
ATP9B transcript variant X13 XM_017025732.2:c.3155-414= XM_017025732.2:c.3155-414A>G
ATP9B transcript variant X16 XM_017025733.2:c.3154+879= XM_017025733.2:c.3154+879A>G
ATP9B transcript variant X5 XM_047437489.1:c.3352+879= XM_047437489.1:c.3352+879A>G
ATP9B transcript variant X9 XM_047437490.1:c.3236-414= XM_047437490.1:c.3236-414A>G
ATP9B transcript variant X12 XM_047437491.1:c.3158-414= XM_047437491.1:c.3158-414A>G
ATP9B transcript variant X14 XM_047437492.1:c.3152-414= XM_047437492.1:c.3152-414A>G
ATP9B transcript variant X15 XM_047437493.1:c.3157+879= XM_047437493.1:c.3157+879A>G
ATP9B transcript variant X17 XM_047437494.1:c.3151+879= XM_047437494.1:c.3151+879A>G
ATP9B transcript variant X32 XM_047437501.1:c.2171-414= XM_047437501.1:c.2171-414A>G
ATP9B transcript variant X33 XM_047437502.1:c.2066-414= XM_047437502.1:c.2066-414A>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#.

13 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss392798 Jul 12, 2000 (79)
2 SC_JCM ss641490 Aug 11, 2000 (85)
3 KWOK ss1173612 Oct 13, 2000 (87)
4 KWOK ss1867704 Oct 18, 2000 (87)
5 EVA_UK10K_ALSPAC ss1637389385 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1680383418 Apr 01, 2015 (144)
7 EVA_DECODE ss1698051650 Apr 01, 2015 (144)
8 HUMAN_LONGEVITY ss2223515437 Dec 20, 2016 (150)
9 GNOMAD ss2959310545 Nov 08, 2017 (151)
10 EVA_DECODE ss3702133507 Jul 13, 2019 (153)
11 TOPMED ss5064833656 Apr 27, 2021 (155)
12 HUGCELL_USP ss5498811650 Oct 16, 2022 (156)
13 EVA ss5953212745 Oct 16, 2022 (156)
14 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 77134980 Oct 12, 2018 (152)
15 gnomAD - Genomes NC_000018.10 - 79374980 Apr 27, 2021 (155)
16 HapMap NC_000018.10 - 79374980 Apr 27, 2020 (154)
17 TopMed NC_000018.10 - 79374980 Apr 27, 2021 (155)
18 UK 10K study - Twins NC_000018.9 - 77134980 Oct 12, 2018 (152)
19 ALFA NC_000018.10 - 79374980 Apr 27, 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)
rs472123 Sep 19, 2000 (85)
rs1097950 Oct 23, 2000 (87)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1698051650 NC_000018.8:75235967:A:G NC_000018.10:79374979:A:G (self)
41763941, 41763941, ss1637389385, ss1680383418, ss2959310545, ss5953212745 NC_000018.9:77134979:A:G NC_000018.10:79374979:A:G (self)
531231787, 1656259, 280379319, 5039957723, ss2223515437, ss3702133507, ss5064833656, ss5498811650 NC_000018.10:79374979:A:G NC_000018.10:79374979:A:G (self)
ss392798, ss641490, ss1173612, ss1867704 NT_025028.14:24925843:A:G NC_000018.10:79374979: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 rs304914

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