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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs17652121

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:45996607 (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=0.150164 (39747/264690, TOPMED)
C=0.144967 (36129/249222, GnomAD_exome)
C=0.207169 (40896/197404, ALFA) (+ 22 more)
C=0.146925 (20541/139806, GnomAD)
C=0.145938 (17467/119688, ExAC)
C=0.08996 (7080/78698, PAGE_STUDY)
C=0.00042 (12/28258, 14KJPN)
C=0.00036 (6/16760, 8.3KJPN)
C=0.16539 (2151/13006, GO-ESP)
C=0.0868 (556/6404, 1000G_30x)
C=0.0877 (439/5008, 1000G)
C=0.1143 (512/4480, Estonian)
C=0.2410 (929/3854, ALSPAC)
C=0.2327 (863/3708, TWINSUK)
C=0.0003 (1/2916, KOREAN)
C=0.1219 (178/1460, HapMap)
C=0.256 (255/998, GoNL)
C=0.118 (71/600, NorthernSweden)
C=0.292 (156/534, MGP)
C=0.089 (27/304, FINRISK)
C=0.185 (40/216, Qatari)
T=0.46 (38/82, SGDP_PRJ)
C=0.15 (6/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MAPT : Synonymous Variant
Publications
5 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 213728 T=0.796452 C=0.203548
European Sub 175564 T=0.782051 C=0.217949
African Sub 12152 T=0.94207 C=0.05793
African Others Sub 434 T=0.982 C=0.018
African American Sub 11718 T=0.94060 C=0.05940
Asian Sub 762 T=0.996 C=0.004
East Asian Sub 600 T=0.995 C=0.005
Other Asian Sub 162 T=1.000 C=0.000
Latin American 1 Sub 1106 T=0.8373 C=0.1627
Latin American 2 Sub 6348 T=0.8784 C=0.1216
South Asian Sub 190 T=0.937 C=0.063
Other Sub 17606 T=0.79729 C=0.20271


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=0.849836 C=0.150164
gnomAD - Exomes Global Study-wide 249222 T=0.855033 C=0.144967
gnomAD - Exomes European Sub 133362 T=0.810358 C=0.189642
gnomAD - Exomes Asian Sub 48980 T=0.95229 C=0.04771
gnomAD - Exomes American Sub 34558 T=0.88095 C=0.11905
gnomAD - Exomes African Sub 16164 T=0.95280 C=0.04720
gnomAD - Exomes Ashkenazi Jewish Sub 10048 T=0.74552 C=0.25448
gnomAD - Exomes Other Sub 6110 T=0.8254 C=0.1746
Allele Frequency Aggregator Total Global 197404 T=0.792831 C=0.207169
Allele Frequency Aggregator European Sub 165510 T=0.781530 C=0.218470
Allele Frequency Aggregator Other Sub 16174 T=0.79442 C=0.20558
Allele Frequency Aggregator African Sub 7314 T=0.9392 C=0.0608
Allele Frequency Aggregator Latin American 2 Sub 6348 T=0.8784 C=0.1216
Allele Frequency Aggregator Latin American 1 Sub 1106 T=0.8373 C=0.1627
Allele Frequency Aggregator Asian Sub 762 T=0.996 C=0.004
Allele Frequency Aggregator South Asian Sub 190 T=0.937 C=0.063
gnomAD - Genomes Global Study-wide 139806 T=0.853075 C=0.146925
gnomAD - Genomes European Sub 75758 T=0.80409 C=0.19591
gnomAD - Genomes African Sub 41870 T=0.94896 C=0.05104
gnomAD - Genomes American Sub 13600 T=0.82360 C=0.17640
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.7601 C=0.2399
gnomAD - Genomes East Asian Sub 3122 T=0.9990 C=0.0010
gnomAD - Genomes Other Sub 2138 T=0.8297 C=0.1703
ExAC Global Study-wide 119688 T=0.854062 C=0.145938
ExAC Europe Sub 72264 T=0.80149 C=0.19851
ExAC Asian Sub 24978 T=0.95020 C=0.04980
ExAC American Sub 11494 T=0.89003 C=0.10997
ExAC African Sub 10074 T=0.95106 C=0.04894
ExAC Other Sub 878 T=0.862 C=0.138
The PAGE Study Global Study-wide 78698 T=0.91004 C=0.08996
The PAGE Study AfricanAmerican Sub 32514 T=0.94313 C=0.05687
The PAGE Study Mexican Sub 10810 T=0.87734 C=0.12266
The PAGE Study Asian Sub 8318 T=0.9978 C=0.0022
The PAGE Study PuertoRican Sub 7916 T=0.8224 C=0.1776
The PAGE Study NativeHawaiian Sub 4534 T=0.9369 C=0.0631
The PAGE Study Cuban Sub 4230 T=0.7764 C=0.2236
The PAGE Study Dominican Sub 3828 T=0.8730 C=0.1270
The PAGE Study CentralAmerican Sub 2450 T=0.8943 C=0.1057
The PAGE Study SouthAmerican Sub 1982 T=0.8734 C=0.1266
The PAGE Study NativeAmerican Sub 1260 T=0.8373 C=0.1627
The PAGE Study SouthAsian Sub 856 T=0.944 C=0.056
14KJPN JAPANESE Study-wide 28258 T=0.99958 C=0.00042
8.3KJPN JAPANESE Study-wide 16760 T=0.99964 C=0.00036
GO Exome Sequencing Project Global Study-wide 13006 T=0.83461 C=0.16539
GO Exome Sequencing Project European American Sub 8600 T=0.7762 C=0.2238
GO Exome Sequencing Project African American Sub 4406 T=0.9487 C=0.0513
1000Genomes_30x Global Study-wide 6404 T=0.9132 C=0.0868
1000Genomes_30x African Sub 1786 T=0.9804 C=0.0196
1000Genomes_30x Europe Sub 1266 T=0.7630 C=0.2370
1000Genomes_30x South Asian Sub 1202 T=0.9376 C=0.0624
1000Genomes_30x East Asian Sub 1170 T=0.9991 C=0.0009
1000Genomes_30x American Sub 980 T=0.852 C=0.148
1000Genomes Global Study-wide 5008 T=0.9123 C=0.0877
1000Genomes African Sub 1322 T=0.9796 C=0.0204
1000Genomes East Asian Sub 1008 T=0.9990 C=0.0010
1000Genomes Europe Sub 1006 T=0.7594 C=0.2406
1000Genomes South Asian Sub 978 T=0.939 C=0.061
1000Genomes American Sub 694 T=0.843 C=0.157
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8857 C=0.1143
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7590 C=0.2410
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7673 C=0.2327
KOREAN population from KRGDB KOREAN Study-wide 2916 T=0.9997 C=0.0003
HapMap Global Study-wide 1460 T=0.8781 C=0.1219
HapMap American Sub 600 T=0.852 C=0.148
HapMap African Sub 512 T=0.953 C=0.047
HapMap Europe Sub 176 T=0.636 C=0.364
HapMap Asian Sub 172 T=0.994 C=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.744 C=0.256
Northern Sweden ACPOP Study-wide 600 T=0.882 C=0.118
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.708 C=0.292
FINRISK Finnish from FINRISK project Study-wide 304 T=0.911 C=0.089
Qatari Global Study-wide 216 T=0.815 C=0.185
SGDP_PRJ Global Study-wide 82 T=0.46 C=0.54
The Danish reference pan genome Danish Study-wide 40 T=0.85 C=0.15
Siberian Global Study-wide 4 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.45996607T>C
GRCh37.p13 chr 17 NC_000017.10:g.44073973T>C
MAPT RefSeqGene (LRG_660) NG_007398.2:g.107145T>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.791783G>A
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.793776G>A
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.698726T>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.591T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 3 NP_058518.1:p.Asn197= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 4 NM_016841.5:c.591T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 4 NP_058525.1:p.Asn197= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 7 NM_001203251.2:c.678T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 7 NP_001190180.1:p.Asn226= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 10 NM_001377266.1:c.1743T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 10 NP_001364195.1:p.Asn581= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 11 NM_001377267.1:c.678T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 11 NP_001364196.1:p.Asn226= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 12 NM_001377268.1:c.591T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 4 NP_001364197.1:p.Asn197= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 9 NM_001377265.1:c.1941T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 9 NP_001364194.1:p.Asn647= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 6 NM_001123066.4:c.1770T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 6 NP_001116538.2:p.Asn590= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 2 NM_005910.6:c.765T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 2 NP_005901.2:p.Asn255= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 5 NM_001123067.4:c.678T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 5 NP_001116539.1:p.Asn226= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 1 NM_016835.5:c.1716T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 1 NP_058519.3:p.Asn572= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 8 NM_001203252.2:c.765T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform 8 NP_001190181.1:p.Asn255= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant 13 NR_165166.1:n.689T>C N/A Non Coding Transcript Variant
MAPT transcript variant X1 XM_005257362.5:c.2028T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X1 XP_005257419.1:p.Asn676= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X2 XM_005257365.5:c.2028T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X2 XP_005257422.1:p.Asn676= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X3 XM_005257366.4:c.1854T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X3 XP_005257423.1:p.Asn618= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X4 XM_047436074.1:c.1941T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X4 XP_047292030.1:p.Asn647= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X5 XM_005257367.5:c.1830T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X5 XP_005257424.1:p.Asn610= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X6 XM_047436075.1:c.1854T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X6 XP_047292031.1:p.Asn618= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X7 XM_047436076.1:c.1743T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X7 XP_047292032.1:p.Asn581= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X8 XM_005257368.5:c.1830T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X8 XP_005257425.1:p.Asn610= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X9 XM_047436077.1:c.1656T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X9 XP_047292033.1:p.Asn552= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X10 XM_047436078.1:c.1656T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X10 XP_047292034.1:p.Asn552= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X11 XM_005257369.5:c.963T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X11 XP_005257426.1:p.Asn321= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X12 XM_005257370.5:c.876T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X12 XP_005257427.1:p.Asn292= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X13 XM_047436079.1:c.963T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X13 XP_047292035.1:p.Asn321= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X14 XM_005257371.5:c.789T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X14 XP_005257428.1:p.Asn263= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X15 XM_047436080.1:c.876T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X15 XP_047292036.1:p.Asn292= N (Asn) > N (Asn) Synonymous Variant
MAPT transcript variant X16 XM_047436081.1:c.789T>C N [AAT] > N [AAC] Coding Sequence Variant
microtubule-associated protein tau isoform X16 XP_047292037.1:p.Asn263= N (Asn) > N (Asn) Synonymous 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: 104101 )
ClinVar Accession Disease Names Clinical Significance
RCV000084514.3 not provided Benign
RCV000248783.7 not specified Benign
RCV000382118.3 MAPT-Related Spectrum Disorders Benign
RCV001510741.4 Frontotemporal dementia 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.45996607= NC_000017.11:g.45996607T>C
GRCh37.p13 chr 17 NC_000017.10:g.44073973= NC_000017.10:g.44073973T>C
MAPT RefSeqGene (LRG_660) NG_007398.2:g.107145= NG_007398.2:g.107145T>C
MAPT transcript variant 2 NM_005910.6:c.765= NM_005910.6:c.765T>C
MAPT transcript variant 2 NM_005910.5:c.765= NM_005910.5:c.765T>C
MAPT transcript variant 1 NM_016835.5:c.1716= NM_016835.5:c.1716T>C
MAPT transcript variant 1 NM_016835.4:c.1716= NM_016835.4:c.1716T>C
MAPT transcript variant 3 NM_016834.5:c.591= NM_016834.5:c.591T>C
MAPT transcript variant 3 NM_016834.4:c.591= NM_016834.4:c.591T>C
MAPT transcript variant 4 NM_016841.5:c.591= NM_016841.5:c.591T>C
MAPT transcript variant 4 NM_016841.4:c.591= NM_016841.4:c.591T>C
MAPT transcript variant 6 NM_001123066.4:c.1770= NM_001123066.4:c.1770T>C
MAPT transcript variant 6 NM_001123066.3:c.1770= NM_001123066.3:c.1770T>C
MAPT transcript variant 5 NM_001123067.4:c.678= NM_001123067.4:c.678T>C
MAPT transcript variant 5 NM_001123067.3:c.678= NM_001123067.3:c.678T>C
MAPT transcript variant 8 NM_001203252.2:c.765= NM_001203252.2:c.765T>C
MAPT transcript variant 8 NM_001203252.1:c.765= NM_001203252.1:c.765T>C
MAPT transcript variant 7 NM_001203251.2:c.678= NM_001203251.2:c.678T>C
MAPT transcript variant 7 NM_001203251.1:c.678= NM_001203251.1:c.678T>C
MAPT transcript variant 9 NM_001377265.1:c.1941= NM_001377265.1:c.1941T>C
MAPT transcript variant 10 NM_001377266.1:c.1743= NM_001377266.1:c.1743T>C
MAPT transcript variant 12 NM_001377268.1:c.591= NM_001377268.1:c.591T>C
MAPT transcript variant 13 NR_165166.1:n.689= NR_165166.1:n.689T>C
MAPT transcript variant 11 NM_001377267.1:c.678= NM_001377267.1:c.678T>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.791783G>A NT_167251.2:g.791783=
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.793776G>A NT_167251.1:g.793776=
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.698726= NT_187663.1:g.698726T>C
MAPT transcript variant X1 XM_005257362.5:c.2028= XM_005257362.5:c.2028T>C
MAPT transcript variant X1 XM_005257362.4:c.2028= XM_005257362.4:c.2028T>C
MAPT transcript variant X11 XM_005257362.3:c.2028= XM_005257362.3:c.2028T>C
MAPT transcript variant X1 XM_005257362.2:c.2028= XM_005257362.2:c.2028T>C
MAPT transcript variant X1 XM_005257362.1:c.2028= XM_005257362.1:c.2028T>C
MAPT transcript variant X2 XM_005257365.5:c.2028= XM_005257365.5:c.2028T>C
MAPT transcript variant X3 XM_005257365.4:c.2028= XM_005257365.4:c.2028T>C
MAPT transcript variant X13 XM_005257365.3:c.2028= XM_005257365.3:c.2028T>C
MAPT transcript variant X4 XM_005257365.2:c.2028= XM_005257365.2:c.2028T>C
MAPT transcript variant X4 XM_005257365.1:c.2028= XM_005257365.1:c.2028T>C
MAPT transcript variant X5 XM_005257367.5:c.1830= XM_005257367.5:c.1830T>C
MAPT transcript variant X5 XM_005257367.4:c.1830= XM_005257367.4:c.1830T>C
MAPT transcript variant X15 XM_005257367.3:c.1830= XM_005257367.3:c.1830T>C
MAPT transcript variant X6 XM_005257367.2:c.1830= XM_005257367.2:c.1830T>C
MAPT transcript variant X6 XM_005257367.1:c.1830= XM_005257367.1:c.1830T>C
MAPT transcript variant X8 XM_005257368.5:c.1830= XM_005257368.5:c.1830T>C
MAPT transcript variant X6 XM_005257368.4:c.1830= XM_005257368.4:c.1830T>C
MAPT transcript variant X16 XM_005257368.3:c.1830= XM_005257368.3:c.1830T>C
MAPT transcript variant X7 XM_005257368.2:c.1830= XM_005257368.2:c.1830T>C
MAPT transcript variant X7 XM_005257368.1:c.1830= XM_005257368.1:c.1830T>C
MAPT transcript variant X11 XM_005257369.5:c.963= XM_005257369.5:c.963T>C
MAPT transcript variant X7 XM_005257369.4:c.963= XM_005257369.4:c.963T>C
MAPT transcript variant X17 XM_005257369.3:c.963= XM_005257369.3:c.963T>C
MAPT transcript variant X8 XM_005257369.2:c.963= XM_005257369.2:c.963T>C
MAPT transcript variant X8 XM_005257369.1:c.963= XM_005257369.1:c.963T>C
MAPT transcript variant X12 XM_005257370.5:c.876= XM_005257370.5:c.876T>C
MAPT transcript variant X8 XM_005257370.4:c.876= XM_005257370.4:c.876T>C
MAPT transcript variant X18 XM_005257370.3:c.876= XM_005257370.3:c.876T>C
MAPT transcript variant X9 XM_005257370.2:c.876= XM_005257370.2:c.876T>C
MAPT transcript variant X9 XM_005257370.1:c.876= XM_005257370.1:c.876T>C
MAPT transcript variant X14 XM_005257371.5:c.789= XM_005257371.5:c.789T>C
MAPT transcript variant X9 XM_005257371.4:c.789= XM_005257371.4:c.789T>C
MAPT transcript variant X19 XM_005257371.3:c.789= XM_005257371.3:c.789T>C
MAPT transcript variant X10 XM_005257371.2:c.789= XM_005257371.2:c.789T>C
MAPT transcript variant X10 XM_005257371.1:c.789= XM_005257371.1:c.789T>C
MAPT transcript variant X3 XM_005257366.4:c.1854= XM_005257366.4:c.1854T>C
MAPT transcript variant X4 XM_005257366.3:c.1854= XM_005257366.3:c.1854T>C
MAPT transcript variant X14 XM_005257366.2:c.1854= XM_005257366.2:c.1854T>C
MAPT transcript variant X5 XM_005257366.1:c.1854= XM_005257366.1:c.1854T>C
MAPT transcript variant X4 XM_047436074.1:c.1941= XM_047436074.1:c.1941T>C
MAPT transcript variant X6 XM_047436075.1:c.1854= XM_047436075.1:c.1854T>C
MAPT transcript variant X7 XM_047436076.1:c.1743= XM_047436076.1:c.1743T>C
MAPT transcript variant X9 XM_047436077.1:c.1656= XM_047436077.1:c.1656T>C
MAPT transcript variant X10 XM_047436078.1:c.1656= XM_047436078.1:c.1656T>C
MAPT transcript variant X13 XM_047436079.1:c.963= XM_047436079.1:c.963T>C
MAPT transcript variant X15 XM_047436080.1:c.876= XM_047436080.1:c.876T>C
MAPT transcript variant X16 XM_047436081.1:c.789= XM_047436081.1:c.789T>C
microtubule-associated protein tau isoform 2 NP_005901.2:p.Asn255= NP_005901.2:p.Asn255=
microtubule-associated protein tau isoform 1 NP_058519.3:p.Asn572= NP_058519.3:p.Asn572=
microtubule-associated protein tau isoform 3 NP_058518.1:p.Asn197= NP_058518.1:p.Asn197=
microtubule-associated protein tau isoform 4 NP_058525.1:p.Asn197= NP_058525.1:p.Asn197=
microtubule-associated protein tau isoform 6 NP_001116538.2:p.Asn590= NP_001116538.2:p.Asn590=
microtubule-associated protein tau isoform 5 NP_001116539.1:p.Asn226= NP_001116539.1:p.Asn226=
microtubule-associated protein tau isoform 8 NP_001190181.1:p.Asn255= NP_001190181.1:p.Asn255=
microtubule-associated protein tau isoform 7 NP_001190180.1:p.Asn226= NP_001190180.1:p.Asn226=
microtubule-associated protein tau isoform 9 NP_001364194.1:p.Asn647= NP_001364194.1:p.Asn647=
microtubule-associated protein tau isoform 10 NP_001364195.1:p.Asn581= NP_001364195.1:p.Asn581=
microtubule-associated protein tau isoform 4 NP_001364197.1:p.Asn197= NP_001364197.1:p.Asn197=
microtubule-associated protein tau isoform 11 NP_001364196.1:p.Asn226= NP_001364196.1:p.Asn226=
microtubule-associated protein tau isoform X1 XP_005257419.1:p.Asn676= XP_005257419.1:p.Asn676=
microtubule-associated protein tau isoform X2 XP_005257422.1:p.Asn676= XP_005257422.1:p.Asn676=
microtubule-associated protein tau isoform X5 XP_005257424.1:p.Asn610= XP_005257424.1:p.Asn610=
microtubule-associated protein tau isoform X8 XP_005257425.1:p.Asn610= XP_005257425.1:p.Asn610=
microtubule-associated protein tau isoform X11 XP_005257426.1:p.Asn321= XP_005257426.1:p.Asn321=
microtubule-associated protein tau isoform X12 XP_005257427.1:p.Asn292= XP_005257427.1:p.Asn292=
microtubule-associated protein tau isoform X14 XP_005257428.1:p.Asn263= XP_005257428.1:p.Asn263=
microtubule-associated protein tau isoform X3 XP_005257423.1:p.Asn618= XP_005257423.1:p.Asn618=
microtubule-associated protein tau isoform X4 XP_047292030.1:p.Asn647= XP_047292030.1:p.Asn647=
microtubule-associated protein tau isoform X6 XP_047292031.1:p.Asn618= XP_047292031.1:p.Asn618=
microtubule-associated protein tau isoform X7 XP_047292032.1:p.Asn581= XP_047292032.1:p.Asn581=
microtubule-associated protein tau isoform X9 XP_047292033.1:p.Asn552= XP_047292033.1:p.Asn552=
microtubule-associated protein tau isoform X10 XP_047292034.1:p.Asn552= XP_047292034.1:p.Asn552=
microtubule-associated protein tau isoform X13 XP_047292035.1:p.Asn321= XP_047292035.1:p.Asn321=
microtubule-associated protein tau isoform X15 XP_047292036.1:p.Asn292= XP_047292036.1:p.Asn292=
microtubule-associated protein tau isoform X16 XP_047292037.1:p.Asn263= XP_047292037.1:p.Asn263=
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#.

116 SubSNP, 24 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24573651 Sep 20, 2004 (123)
2 APPLERA_GI ss48424272 Mar 13, 2006 (126)
3 ILLUMINA ss75079981 Dec 06, 2007 (129)
4 BCMHGSC_JDW ss90597767 Mar 24, 2008 (129)
5 VIB_MOLGEN_ADFTDMDB ss95216080 Feb 13, 2013 (137)
6 KRIBB_YJKIM ss119891430 Dec 01, 2009 (131)
7 ENSEMBL ss137085427 Dec 01, 2009 (131)
8 SEATTLESEQ ss159735644 Dec 01, 2009 (131)
9 ILLUMINA ss160451507 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss168214891 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss171448752 Jul 04, 2010 (132)
12 ILLUMINA ss172868659 Jul 04, 2010 (132)
13 BUSHMAN ss202546978 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss207886516 Jul 04, 2010 (132)
15 1000GENOMES ss217326223 Jul 14, 2010 (136)
16 1000GENOMES ss217425574 Jul 14, 2010 (136)
17 1000GENOMES ss237251317 Jul 15, 2010 (136)
18 PJP ss292056082 May 09, 2011 (136)
19 NHLBI-ESP ss342456857 May 09, 2011 (136)
20 ILLUMINA ss410914747 Sep 17, 2011 (136)
21 ILLUMINA ss480265428 May 04, 2012 (137)
22 ILLUMINA ss480276405 May 04, 2012 (137)
23 ILLUMINA ss481021917 Sep 08, 2015 (146)
24 ILLUMINA ss484930645 May 04, 2012 (137)
25 1000GENOMES ss491125698 May 04, 2012 (137)
26 CLINSEQ_SNP ss491738339 May 04, 2012 (137)
27 ILLUMINA ss536978525 Sep 08, 2015 (146)
28 TISHKOFF ss565286272 Apr 25, 2013 (138)
29 SSMP ss661090436 Apr 25, 2013 (138)
30 ILLUMINA ss778463934 Sep 08, 2015 (146)
31 ILLUMINA ss782911636 Sep 08, 2015 (146)
32 ILLUMINA ss783874835 Sep 08, 2015 (146)
33 ILLUMINA ss832166599 Sep 08, 2015 (146)
34 ILLUMINA ss833919656 Sep 08, 2015 (146)
35 EVA-GONL ss993131205 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1067572349 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1081073779 Aug 21, 2014 (142)
38 1000GENOMES ss1358749149 Aug 21, 2014 (142)
39 EVA_GENOME_DK ss1578166354 Apr 01, 2015 (144)
40 EVA_FINRISK ss1584106870 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1635697804 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1678691837 Apr 01, 2015 (144)
43 EVA_EXAC ss1692828662 Apr 01, 2015 (144)
44 EVA_DECODE ss1697174381 Apr 01, 2015 (144)
45 EVA_MGP ss1711463569 Apr 01, 2015 (144)
46 EVA_SVP ss1713584030 Apr 01, 2015 (144)
47 ILLUMINA ss1752227488 Sep 08, 2015 (146)
48 HAMMER_LAB ss1808793330 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1936592398 Feb 12, 2016 (147)
50 ILLUMINA ss1959750076 Feb 12, 2016 (147)
51 GENOMED ss1968393964 Jul 19, 2016 (147)
52 JJLAB ss2029072591 Sep 14, 2016 (149)
53 ILLUMINA ss2094801362 Dec 20, 2016 (150)
54 ILLUMINA ss2095075445 Dec 20, 2016 (150)
55 USC_VALOUEV ss2157545625 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2217026148 Dec 20, 2016 (150)
57 ILLUMINA ss2633399415 Nov 08, 2017 (151)
58 ILLUMINA ss2635070639 Nov 08, 2017 (151)
59 ILLUMINA ss2710850521 Nov 08, 2017 (151)
60 GNOMAD ss2742795893 Nov 08, 2017 (151)
61 GNOMAD ss2749798066 Nov 08, 2017 (151)
62 SWEGEN ss3015575633 Nov 08, 2017 (151)
63 ILLUMINA ss3021783741 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3028357386 Nov 08, 2017 (151)
65 ILLUMINA ss3627675343 Oct 12, 2018 (152)
66 ILLUMINA ss3631380303 Oct 12, 2018 (152)
67 ILLUMINA ss3633142230 Oct 12, 2018 (152)
68 ILLUMINA ss3633849830 Oct 12, 2018 (152)
69 ILLUMINA ss3634676853 Oct 12, 2018 (152)
70 ILLUMINA ss3635537569 Oct 12, 2018 (152)
71 ILLUMINA ss3636366362 Oct 12, 2018 (152)
72 ILLUMINA ss3637289120 Oct 12, 2018 (152)
73 ILLUMINA ss3638163071 Oct 12, 2018 (152)
74 ILLUMINA ss3640384165 Oct 12, 2018 (152)
75 ILLUMINA ss3643141364 Oct 12, 2018 (152)
76 OMUKHERJEE_ADBS ss3646512539 Oct 12, 2018 (152)
77 ILLUMINA ss3652200616 Oct 12, 2018 (152)
78 EGCUT_WGS ss3682457852 Jul 13, 2019 (153)
79 EVA_DECODE ss3700514610 Jul 13, 2019 (153)
80 ILLUMINA ss3725624867 Jul 13, 2019 (153)
81 ACPOP ss3742045887 Jul 13, 2019 (153)
82 ILLUMINA ss3744445156 Jul 13, 2019 (153)
83 ILLUMINA ss3744977146 Jul 13, 2019 (153)
84 EVA ss3754695174 Jul 13, 2019 (153)
85 PAGE_CC ss3771930363 Jul 13, 2019 (153)
86 ILLUMINA ss3772475007 Jul 13, 2019 (153)
87 PACBIO ss3788212442 Jul 13, 2019 (153)
88 PACBIO ss3793168350 Jul 13, 2019 (153)
89 PACBIO ss3798054209 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3819963193 Jul 13, 2019 (153)
91 EVA ss3825124109 Apr 27, 2020 (154)
92 EVA ss3825901299 Apr 27, 2020 (154)
93 EVA ss3834879759 Apr 27, 2020 (154)
94 EVA ss3841050325 Apr 27, 2020 (154)
95 EVA ss3846547420 Apr 27, 2020 (154)
96 SGDP_PRJ ss3885799220 Apr 27, 2020 (154)
97 KRGDB ss3935498531 Apr 27, 2020 (154)
98 FSA-LAB ss3984117252 Apr 27, 2021 (155)
99 EVA ss4017768203 Apr 27, 2021 (155)
100 TOPMED ss5036814547 Apr 27, 2021 (155)
101 TOMMO_GENOMICS ss5222533871 Apr 27, 2021 (155)
102 EVA ss5236943877 Apr 27, 2021 (155)
103 EVA ss5237669234 Oct 16, 2022 (156)
104 1000G_HIGH_COVERAGE ss5303219205 Oct 16, 2022 (156)
105 EVA ss5315888112 Oct 16, 2022 (156)
106 EVA ss5427747150 Oct 16, 2022 (156)
107 HUGCELL_USP ss5496263075 Oct 16, 2022 (156)
108 EVA ss5511773416 Oct 16, 2022 (156)
109 1000G_HIGH_COVERAGE ss5606979328 Oct 16, 2022 (156)
110 SANFORD_IMAGENETICS ss5660150447 Oct 16, 2022 (156)
111 TOMMO_GENOMICS ss5778783423 Oct 16, 2022 (156)
112 EVA ss5799976168 Oct 16, 2022 (156)
113 EVA ss5800071102 Oct 16, 2022 (156)
114 EVA ss5834017030 Oct 16, 2022 (156)
115 EVA ss5848451359 Oct 16, 2022 (156)
116 EVA ss5951541793 Oct 16, 2022 (156)
117 1000Genomes NC_000017.10 - 44073973 Oct 12, 2018 (152)
118 1000Genomes_30x NC_000017.11 - 45996607 Oct 16, 2022 (156)
119 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 44073973 Oct 12, 2018 (152)
120 Genetic variation in the Estonian population NC_000017.10 - 44073973 Oct 12, 2018 (152)
121 ExAC NC_000017.10 - 44073973 Oct 12, 2018 (152)
122 FINRISK NC_000017.10 - 44073973 Apr 27, 2020 (154)
123 The Danish reference pan genome NC_000017.10 - 44073973 Apr 27, 2020 (154)
124 gnomAD - Genomes NC_000017.11 - 45996607 Apr 27, 2021 (155)
125 gnomAD - Exomes NC_000017.10 - 44073973 Jul 13, 2019 (153)
126 GO Exome Sequencing Project NC_000017.10 - 44073973 Oct 12, 2018 (152)
127 Genome of the Netherlands Release 5 NC_000017.10 - 44073973 Apr 27, 2020 (154)
128 HapMap NC_000017.11 - 45996607 Apr 27, 2020 (154)
129 KOREAN population from KRGDB NC_000017.10 - 44073973 Apr 27, 2020 (154)
130 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 44073973 Apr 27, 2020 (154)
131 Northern Sweden NC_000017.10 - 44073973 Jul 13, 2019 (153)
132 The PAGE Study NC_000017.11 - 45996607 Jul 13, 2019 (153)
133 Qatari NC_000017.10 - 44073973 Apr 27, 2020 (154)
134 SGDP_PRJ NC_000017.10 - 44073973 Apr 27, 2020 (154)
135 Siberian NC_000017.10 - 44073973 Apr 27, 2020 (154)
136 8.3KJPN NC_000017.10 - 44073973 Apr 27, 2021 (155)
137 14KJPN NC_000017.11 - 45996607 Oct 16, 2022 (156)
138 TopMed NC_000017.11 - 45996607 Apr 27, 2021 (155)
139 UK 10K study - Twins NC_000017.10 - 44073973 Oct 12, 2018 (152)
140 ALFA NC_000017.11 - 45996607 Apr 27, 2021 (155)
141 ClinVar RCV000084514.3 Oct 16, 2022 (156)
142 ClinVar RCV000248783.7 Oct 16, 2022 (156)
143 ClinVar RCV000382118.3 Oct 16, 2022 (156)
144 ClinVar RCV001510741.4 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).

Associated ID History Updated (Build)
rs116444268 Mar 28, 2012 (136)
rs117792973 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90597767, ss168214891, ss171448752, ss202546978, ss207886516, ss217326223, ss217425574, ss292056082, ss480265428, ss491738339, ss1697174381, ss1713584030, ss2635070639, ss3643141364 NC_000017.9:41429809:T:C NC_000017.11:45996606:T:C (self)
71994430, 39898732, 28196100, 3275627, 103331, 4368346, 12100963, 1581187, 17781803, 42675925, 579329, 15330752, 18634320, 37816200, 10061979, 80503178, 39898732, ss237251317, ss342456857, ss480276405, ss481021917, ss484930645, ss491125698, ss536978525, ss565286272, ss661090436, ss778463934, ss782911636, ss783874835, ss832166599, ss833919656, ss993131205, ss1067572349, ss1081073779, ss1358749149, ss1578166354, ss1584106870, ss1635697804, ss1678691837, ss1692828662, ss1711463569, ss1752227488, ss1808793330, ss1936592398, ss1959750076, ss1968393964, ss2029072591, ss2094801362, ss2095075445, ss2157545625, ss2633399415, ss2710850521, ss2742795893, ss2749798066, ss3015575633, ss3021783741, ss3627675343, ss3631380303, ss3633142230, ss3633849830, ss3634676853, ss3635537569, ss3636366362, ss3637289120, ss3638163071, ss3640384165, ss3646512539, ss3652200616, ss3682457852, ss3742045887, ss3744445156, ss3744977146, ss3754695174, ss3772475007, ss3788212442, ss3793168350, ss3798054209, ss3825124109, ss3825901299, ss3834879759, ss3841050325, ss3885799220, ss3935498531, ss3984117252, ss4017768203, ss5222533871, ss5315888112, ss5427747150, ss5511773416, ss5660150447, ss5799976168, ss5800071102, ss5834017030, ss5848451359, ss5951541793 NC_000017.10:44073972:T:C NC_000017.11:45996606:T:C (self)
RCV000084514.3, RCV000248783.7, RCV000382118.3, RCV001510741.4, 94505263, 507960680, 1491688, 1151832, 112620527, 252360209, 10507293443, ss95216080, ss2217026148, ss3028357386, ss3700514610, ss3725624867, ss3771930363, ss3819963193, ss3846547420, ss5036814547, ss5236943877, ss5237669234, ss5303219205, ss5496263075, ss5606979328, ss5778783423 NC_000017.11:45996606:T:C NC_000017.11:45996606:T:C (self)
ss24573651, ss48424272, ss75079981, ss119891430, ss137085427, ss159735644, ss160451507, ss172868659, ss410914747 NT_010783.15:9348124:T:C NC_000017.11:45996606: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.

5 citations for rs17652121
PMID Title Author Year Journal
21412835 Common variants in PARK loci and related genes and Parkinson's disease. Chung SJ et al. 2011 Movement disorders
24868370 Human genetic variation and Parkinson's disease. Chung SJ et al. 2010 Journal of movement disorders
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
26154020 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Ferrari R et al. 2015 Neurobiology of aging
29084565 Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders. Lai MC et al. 2017 Molecular neurodegeneration
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