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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.

rs181844055

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:46027127 (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=0.005580 (1477/264690, TOPMED)
C=0.005141 (721/140234, GnomAD)
C=0.00007 (2/28258, 14KJPN) (+ 10 more)
C=0.00752 (142/18890, ALFA)
C=0.0020 (13/6404, 1000G_30x)
C=0.0020 (10/5008, 1000G)
C=0.0199 (89/4480, Estonian)
C=0.0023 (9/3854, ALSPAC)
C=0.0024 (9/3708, TWINSUK)
C=0.003 (3/998, GoNL)
C=0.008 (5/600, NorthernSweden)
T=0.5 (4/8, SGDP_PRJ)
C=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MAPT : Non Coding Transcript 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 18890 T=0.99248 C=0.00752
European Sub 14286 T=0.99146 C=0.00854
African Sub 2946 T=0.9983 C=0.0017
African Others Sub 114 T=1.000 C=0.000
African American Sub 2832 T=0.9982 C=0.0018
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=1.000 C=0.000
Latin American 2 Sub 610 T=0.977 C=0.023
South Asian Sub 98 T=1.00 C=0.00
Other Sub 692 T=0.999 C=0.001


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=0.994420 C=0.005580
gnomAD - Genomes Global Study-wide 140234 T=0.994859 C=0.005141
gnomAD - Genomes European Sub 75958 T=0.99534 C=0.00466
gnomAD - Genomes African Sub 42008 T=0.99857 C=0.00143
gnomAD - Genomes American Sub 13656 T=0.98074 C=0.01926
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9889 C=0.0111
gnomAD - Genomes East Asian Sub 3134 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2154 T=0.9972 C=0.0028
14KJPN JAPANESE Study-wide 28258 T=0.99993 C=0.00007
Allele Frequency Aggregator Total Global 18890 T=0.99248 C=0.00752
Allele Frequency Aggregator European Sub 14286 T=0.99146 C=0.00854
Allele Frequency Aggregator African Sub 2946 T=0.9983 C=0.0017
Allele Frequency Aggregator Other Sub 692 T=0.999 C=0.001
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.977 C=0.023
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9980 C=0.0020
1000Genomes_30x African Sub 1786 T=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 T=0.9976 C=0.0024
1000Genomes_30x South Asian Sub 1202 T=0.9992 C=0.0008
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=0.991 C=0.009
1000Genomes Global Study-wide 5008 T=0.9980 C=0.0020
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9970 C=0.0030
1000Genomes South Asian Sub 978 T=0.999 C=0.001
1000Genomes American Sub 694 T=0.991 C=0.009
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9801 C=0.0199
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9977 C=0.0023
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9976 C=0.0024
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.997 C=0.003
Northern Sweden ACPOP Study-wide 600 T=0.992 C=0.008
SGDP_PRJ Global Study-wide 8 T=0.5 C=0.5
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 17 NC_000017.11:g.46027127T>C
GRCh37.p13 chr 17 NC_000017.10:g.44104493T>C
MAPT RefSeqGene (LRG_660) NG_007398.2:g.137665T>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.761491A>G
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.763484A>G
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.729239T>C
Gene: MAPT, microtubule associated protein tau (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAPT transcript variant 3 NM_016834.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 4 NM_016841.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 7 NM_001203251.2:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 10 NM_001377266.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 11 NM_001377267.1:c.*1939= N/A 3 Prime UTR Variant
MAPT transcript variant 12 NM_001377268.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 9 NM_001377265.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 6 NM_001123066.4:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 2 NM_005910.6:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 5 NM_001123067.4:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 1 NM_016835.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 8 NM_001203252.2:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant 13 NR_165166.1:n.4113T>C N/A Non Coding Transcript Variant
MAPT transcript variant X1 XM_005257362.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X2 XM_005257365.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X3 XM_005257366.4:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X4 XM_047436074.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X5 XM_005257367.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X6 XM_047436075.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X7 XM_047436076.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X8 XM_005257368.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X9 XM_047436077.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X10 XM_047436078.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X11 XM_005257369.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X12 XM_005257370.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X13 XM_047436079.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X14 XM_005257371.5:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X15 XM_047436080.1:c.*2956= N/A 3 Prime UTR Variant
MAPT transcript variant X16 XM_047436081.1:c.*2956= 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: C (allele ID: 346251 )
ClinVar Accession Disease Names Clinical Significance
RCV000314397.3 Syndromic intellectual disability Likely-Benign
RCV000338848.3 MAPT-Related Spectrum Disorders Likely-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 T= C
GRCh38.p14 chr 17 NC_000017.11:g.46027127= NC_000017.11:g.46027127T>C
GRCh37.p13 chr 17 NC_000017.10:g.44104493= NC_000017.10:g.44104493T>C
MAPT RefSeqGene (LRG_660) NG_007398.2:g.137665= NG_007398.2:g.137665T>C
MAPT transcript variant 2 NM_005910.6:c.*2956= NM_005910.6:c.*2956T>C
MAPT transcript variant 2 NM_005910.5:c.*2956= NM_005910.5:c.*2956T>C
MAPT transcript variant 1 NM_016835.5:c.*2956= NM_016835.5:c.*2956T>C
MAPT transcript variant 1 NM_016835.4:c.*2956= NM_016835.4:c.*2956T>C
MAPT transcript variant 3 NM_016834.5:c.*2956= NM_016834.5:c.*2956T>C
MAPT transcript variant 3 NM_016834.4:c.*2956= NM_016834.4:c.*2956T>C
MAPT transcript variant 4 NM_016841.5:c.*2956= NM_016841.5:c.*2956T>C
MAPT transcript variant 4 NM_016841.4:c.*2956= NM_016841.4:c.*2956T>C
MAPT transcript variant 6 NM_001123066.4:c.*2956= NM_001123066.4:c.*2956T>C
MAPT transcript variant 6 NM_001123066.3:c.*2956= NM_001123066.3:c.*2956T>C
MAPT transcript variant 5 NM_001123067.4:c.*2956= NM_001123067.4:c.*2956T>C
MAPT transcript variant 5 NM_001123067.3:c.*2956= NM_001123067.3:c.*2956T>C
MAPT transcript variant 8 NM_001203252.2:c.*2956= NM_001203252.2:c.*2956T>C
MAPT transcript variant 8 NM_001203252.1:c.*2956= NM_001203252.1:c.*2956T>C
MAPT transcript variant 7 NM_001203251.2:c.*2956= NM_001203251.2:c.*2956T>C
MAPT transcript variant 7 NM_001203251.1:c.*2956= NM_001203251.1:c.*2956T>C
MAPT transcript variant 9 NM_001377265.1:c.*2956= NM_001377265.1:c.*2956T>C
MAPT transcript variant 10 NM_001377266.1:c.*2956= NM_001377266.1:c.*2956T>C
MAPT transcript variant 12 NM_001377268.1:c.*2956= NM_001377268.1:c.*2956T>C
MAPT transcript variant 13 NR_165166.1:n.4113= NR_165166.1:n.4113T>C
MAPT transcript variant 11 NM_001377267.1:c.*1939= NM_001377267.1:c.*1939T>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.761491= NT_167251.2:g.761491A>G
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.763484= NT_167251.1:g.763484A>G
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.729239= NT_187663.1:g.729239T>C
MAPT transcript variant X1 XM_005257362.5:c.*2956= XM_005257362.5:c.*2956T>C
MAPT transcript variant X1 XM_005257362.4:c.*2956= XM_005257362.4:c.*2956T>C
MAPT transcript variant X2 XM_005257365.5:c.*2956= XM_005257365.5:c.*2956T>C
MAPT transcript variant X3 XM_005257365.4:c.*2956= XM_005257365.4:c.*2956T>C
MAPT transcript variant X5 XM_005257367.5:c.*2956= XM_005257367.5:c.*2956T>C
MAPT transcript variant X5 XM_005257367.4:c.*2956= XM_005257367.4:c.*2956T>C
MAPT transcript variant X8 XM_005257368.5:c.*2956= XM_005257368.5:c.*2956T>C
MAPT transcript variant X6 XM_005257368.4:c.*2956= XM_005257368.4:c.*2956T>C
MAPT transcript variant X11 XM_005257369.5:c.*2956= XM_005257369.5:c.*2956T>C
MAPT transcript variant X7 XM_005257369.4:c.*2956= XM_005257369.4:c.*2956T>C
MAPT transcript variant X12 XM_005257370.5:c.*2956= XM_005257370.5:c.*2956T>C
MAPT transcript variant X8 XM_005257370.4:c.*2956= XM_005257370.4:c.*2956T>C
MAPT transcript variant X14 XM_005257371.5:c.*2956= XM_005257371.5:c.*2956T>C
MAPT transcript variant X9 XM_005257371.4:c.*2956= XM_005257371.4:c.*2956T>C
MAPT transcript variant X3 XM_005257366.4:c.*2956= XM_005257366.4:c.*2956T>C
MAPT transcript variant X4 XM_005257366.3:c.*2956= XM_005257366.3:c.*2956T>C
MAPT transcript variant X6 XM_047436075.1:c.*2956= XM_047436075.1:c.*2956T>C
MAPT transcript variant X7 XM_047436076.1:c.*2956= XM_047436076.1:c.*2956T>C
MAPT transcript variant X9 XM_047436077.1:c.*2956= XM_047436077.1:c.*2956T>C
MAPT transcript variant X10 XM_047436078.1:c.*2956= XM_047436078.1:c.*2956T>C
MAPT transcript variant X15 XM_047436080.1:c.*2956= XM_047436080.1:c.*2956T>C
MAPT transcript variant X16 XM_047436081.1:c.*2956= XM_047436081.1:c.*2956T>C
MAPT transcript NM_173727.1:c.*993= NM_173727.1:c.*993T>C
MAPT transcript variant X4 XM_047436074.1:c.*2956= XM_047436074.1:c.*2956T>C
MAPT transcript variant X13 XM_047436079.1:c.*2956= XM_047436079.1:c.*2956T>C
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#.

18 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss464933405 Sep 17, 2011 (135)
2 EVA-GONL ss993131489 Aug 21, 2014 (142)
3 1000GENOMES ss1358749987 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1635698261 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1678692294 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2217027960 Dec 20, 2016 (150)
7 SWEGEN ss3015576057 Nov 08, 2017 (151)
8 EGCUT_WGS ss3682458313 Jul 13, 2019 (153)
9 ACPOP ss3742046161 Jul 13, 2019 (153)
10 EVA ss3754695503 Jul 13, 2019 (153)
11 SGDP_PRJ ss3885799666 Apr 27, 2020 (154)
12 TOPMED ss5036821929 Apr 27, 2021 (155)
13 1000G_HIGH_COVERAGE ss5303219947 Oct 16, 2022 (156)
14 EVA ss5427748461 Oct 16, 2022 (156)
15 HUGCELL_USP ss5496263751 Oct 16, 2022 (156)
16 1000G_HIGH_COVERAGE ss5606980422 Oct 16, 2022 (156)
17 TOMMO_GENOMICS ss5778784785 Oct 16, 2022 (156)
18 EVA ss5951542235 Oct 16, 2022 (156)
19 1000Genomes NC_000017.10 - 44104493 Oct 12, 2018 (152)
20 1000Genomes_30x NC_000017.11 - 46027127 Oct 16, 2022 (156)
21 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 44104493 Oct 12, 2018 (152)
22 Genetic variation in the Estonian population NC_000017.10 - 44104493 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000017.11 - 46027127 Apr 27, 2021 (155)
24 Genome of the Netherlands Release 5 NC_000017.10 - 44104493 Apr 27, 2020 (154)
25 Northern Sweden NC_000017.10 - 44104493 Jul 13, 2019 (153)
26 SGDP_PRJ NC_000017.10 - 44104493 Apr 27, 2020 (154)
27 14KJPN NC_000017.11 - 46027127 Oct 16, 2022 (156)
28 TopMed NC_000017.11 - 46027127 Apr 27, 2021 (155)
29 UK 10K study - Twins NC_000017.10 - 44104493 Oct 12, 2018 (152)
30 ALFA NC_000017.11 - 46027127 Apr 27, 2021 (155)
31 ClinVar RCV000314397.3 Oct 16, 2022 (156)
32 ClinVar RCV000338848.3 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
71995300, 39899250, 28196561, 17782069, 15331026, 37816646, 39899250, ss464933405, ss993131489, ss1358749987, ss1635698261, ss1678692294, ss3015576057, ss3682458313, ss3742046161, ss3754695503, ss3885799666, ss5427748461, ss5951542235 NC_000017.10:44104492:T:C NC_000017.11:46027126:T:C (self)
RCV000314397.3, RCV000338848.3, 94506357, 507966829, 112621889, 252367591, 14304200741, ss2217027960, ss5036821929, ss5303219947, ss5496263751, ss5606980422, ss5778784785 NC_000017.11:46027126:T:C NC_000017.11:46027126: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 rs181844055

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