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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.

rs10656897

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:35108392-35108405 (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
del(T)5 / delTTT / delTT / delT / …

del(T)5 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5

Variation Type
Indel Insertion and Deletion
Frequency
del(T)5=0.000004 (1/264690, TOPMED)
dupTTT=0.02371 (346/14592, ALFA)
dupTTT=0.1158 (580/5008, 1000G) (+ 3 more)
dupTTT=0.0537 (207/3854, ALSPAC)
dupTTT=0.0601 (223/3708, TWINSUK)
delT=0.18 (7/38, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPP2R3C : Intron Variant
LOC101927178 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14592 TTTTTTTTTTTTTT=0.95696 TTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.01878, TTTTTTTTTTTTTTT=0.00055, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.02371, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000 0.956565 0.002421 0.041014 27
European Sub 11760 TTTTTTTTTTTTTT=0.94668 TTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.02330, TTTTTTTTTTTTTTT=0.00068, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.02934, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000 0.945772 0.003032 0.051195 19
African Sub 1724 TTTTTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 72 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1652 TTTTTTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 96 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 72 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 98 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 492 TTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 70 TTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 352 TTTTTTTTTTTTTT=0.997 TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 0.994318 0.0 0.005682 0


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)14=0.999996 del(T)5=0.000004
Allele Frequency Aggregator Total Global 14592 (T)14=0.95696 del(T)5=0.00000, delTT=0.00000, delT=0.01878, dupT=0.00055, dupTT=0.00000, dupTTT=0.02371, dup(T)4=0.00000, dup(T)5=0.00000
Allele Frequency Aggregator European Sub 11760 (T)14=0.94668 del(T)5=0.00000, delTT=0.00000, delT=0.02330, dupT=0.00068, dupTT=0.00000, dupTTT=0.02934, dup(T)4=0.00000, dup(T)5=0.00000
Allele Frequency Aggregator African Sub 1724 (T)14=1.0000 del(T)5=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000, dup(T)5=0.0000
Allele Frequency Aggregator Latin American 2 Sub 492 (T)14=1.000 del(T)5=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000
Allele Frequency Aggregator Other Sub 352 (T)14=0.997 del(T)5=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.003, dup(T)4=0.000, dup(T)5=0.000
Allele Frequency Aggregator Latin American 1 Sub 98 (T)14=1.00 del(T)5=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
Allele Frequency Aggregator Asian Sub 96 (T)14=1.00 del(T)5=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
Allele Frequency Aggregator South Asian Sub 70 (T)14=1.00 del(T)5=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00
1000Genomes Global Study-wide 5008 -

No frequency provided

dupTTT=0.1158
1000Genomes African Sub 1322 -

No frequency provided

dupTTT=0.2050
1000Genomes East Asian Sub 1008 -

No frequency provided

dupTTT=0.0327
1000Genomes Europe Sub 1006 -

No frequency provided

dupTTT=0.0746
1000Genomes South Asian Sub 978 -

No frequency provided

dupTTT=0.162
1000Genomes American Sub 694 -

No frequency provided

dupTTT=0.062
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupTTT=0.0537
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupTTT=0.0601
The Danish reference pan genome Danish Study-wide 38 (T)14=0.82 delT=0.18
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 14 NC_000014.9:g.35108401_35108405del
GRCh38.p14 chr 14 NC_000014.9:g.35108403_35108405del
GRCh38.p14 chr 14 NC_000014.9:g.35108404_35108405del
GRCh38.p14 chr 14 NC_000014.9:g.35108405del
GRCh38.p14 chr 14 NC_000014.9:g.35108405dup
GRCh38.p14 chr 14 NC_000014.9:g.35108404_35108405dup
GRCh38.p14 chr 14 NC_000014.9:g.35108403_35108405dup
GRCh38.p14 chr 14 NC_000014.9:g.35108402_35108405dup
GRCh38.p14 chr 14 NC_000014.9:g.35108401_35108405dup
GRCh37.p13 chr 14 NC_000014.8:g.35577607_35577611del
GRCh37.p13 chr 14 NC_000014.8:g.35577609_35577611del
GRCh37.p13 chr 14 NC_000014.8:g.35577610_35577611del
GRCh37.p13 chr 14 NC_000014.8:g.35577611del
GRCh37.p13 chr 14 NC_000014.8:g.35577611dup
GRCh37.p13 chr 14 NC_000014.8:g.35577610_35577611dup
GRCh37.p13 chr 14 NC_000014.8:g.35577609_35577611dup
GRCh37.p13 chr 14 NC_000014.8:g.35577608_35577611dup
GRCh37.p13 chr 14 NC_000014.8:g.35577607_35577611dup
Gene: PPP2R3C, protein phosphatase 2 regulatory subunit B''gamma (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PPP2R3C transcript variant 2 NM_001305155.2:c.75-160_7…

NM_001305155.2:c.75-160_75-156del

N/A Intron Variant
PPP2R3C transcript variant 3 NM_001305156.2:c.75-160_7…

NM_001305156.2:c.75-160_75-156del

N/A Intron Variant
PPP2R3C transcript variant 1 NM_017917.4:c.405-160_405…

NM_017917.4:c.405-160_405-156del

N/A Intron Variant
PPP2R3C transcript variant 4 NR_130972.2:n. N/A Intron Variant
PPP2R3C transcript variant X1 XM_005267782.5:c.405-160_…

XM_005267782.5:c.405-160_405-156del

N/A Intron Variant
PPP2R3C transcript variant X2 XM_024449638.2:c.312-160_…

XM_024449638.2:c.312-160_312-156del

N/A Intron Variant
PPP2R3C transcript variant X3 XM_024449639.2:c.249-160_…

XM_024449639.2:c.249-160_249-156del

N/A Intron Variant
PPP2R3C transcript variant X4 XM_047431517.1:c.405-160_…

XM_047431517.1:c.405-160_405-156del

N/A Intron Variant
Gene: LOC101927178, uncharacterized LOC101927178 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101927178 transcript NR_110415.1:n. 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
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)14= del(T)5 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5
GRCh38.p14 chr 14 NC_000014.9:g.35108392_35108405= NC_000014.9:g.35108401_35108405del NC_000014.9:g.35108403_35108405del NC_000014.9:g.35108404_35108405del NC_000014.9:g.35108405del NC_000014.9:g.35108405dup NC_000014.9:g.35108404_35108405dup NC_000014.9:g.35108403_35108405dup NC_000014.9:g.35108402_35108405dup NC_000014.9:g.35108401_35108405dup
GRCh37.p13 chr 14 NC_000014.8:g.35577598_35577611= NC_000014.8:g.35577607_35577611del NC_000014.8:g.35577609_35577611del NC_000014.8:g.35577610_35577611del NC_000014.8:g.35577611del NC_000014.8:g.35577611dup NC_000014.8:g.35577610_35577611dup NC_000014.8:g.35577609_35577611dup NC_000014.8:g.35577608_35577611dup NC_000014.8:g.35577607_35577611dup
PPP2R3C transcript variant 2 NM_001305155.2:c.75-156= NM_001305155.2:c.75-160_75-156del NM_001305155.2:c.75-158_75-156del NM_001305155.2:c.75-157_75-156del NM_001305155.2:c.75-156del NM_001305155.2:c.75-156dup NM_001305155.2:c.75-157_75-156dup NM_001305155.2:c.75-158_75-156dup NM_001305155.2:c.75-159_75-156dup NM_001305155.2:c.75-160_75-156dup
PPP2R3C transcript variant 3 NM_001305156.2:c.75-156= NM_001305156.2:c.75-160_75-156del NM_001305156.2:c.75-158_75-156del NM_001305156.2:c.75-157_75-156del NM_001305156.2:c.75-156del NM_001305156.2:c.75-156dup NM_001305156.2:c.75-157_75-156dup NM_001305156.2:c.75-158_75-156dup NM_001305156.2:c.75-159_75-156dup NM_001305156.2:c.75-160_75-156dup
PPP2R3C transcript NM_017917.2:c.405-156= NM_017917.2:c.405-160_405-156del NM_017917.2:c.405-158_405-156del NM_017917.2:c.405-157_405-156del NM_017917.2:c.405-156del NM_017917.2:c.405-156dup NM_017917.2:c.405-157_405-156dup NM_017917.2:c.405-158_405-156dup NM_017917.2:c.405-159_405-156dup NM_017917.2:c.405-160_405-156dup
PPP2R3C transcript variant 1 NM_017917.4:c.405-156= NM_017917.4:c.405-160_405-156del NM_017917.4:c.405-158_405-156del NM_017917.4:c.405-157_405-156del NM_017917.4:c.405-156del NM_017917.4:c.405-156dup NM_017917.4:c.405-157_405-156dup NM_017917.4:c.405-158_405-156dup NM_017917.4:c.405-159_405-156dup NM_017917.4:c.405-160_405-156dup
PPP2R3C transcript variant X1 XM_005267782.1:c.405-156= XM_005267782.1:c.405-160_405-156del XM_005267782.1:c.405-158_405-156del XM_005267782.1:c.405-157_405-156del XM_005267782.1:c.405-156del XM_005267782.1:c.405-156dup XM_005267782.1:c.405-157_405-156dup XM_005267782.1:c.405-158_405-156dup XM_005267782.1:c.405-159_405-156dup XM_005267782.1:c.405-160_405-156dup
PPP2R3C transcript variant X1 XM_005267782.5:c.405-156= XM_005267782.5:c.405-160_405-156del XM_005267782.5:c.405-158_405-156del XM_005267782.5:c.405-157_405-156del XM_005267782.5:c.405-156del XM_005267782.5:c.405-156dup XM_005267782.5:c.405-157_405-156dup XM_005267782.5:c.405-158_405-156dup XM_005267782.5:c.405-159_405-156dup XM_005267782.5:c.405-160_405-156dup
PPP2R3C transcript variant X2 XM_005267783.1:c.291+2133= XM_005267783.1:c.291+2129_291+2133del XM_005267783.1:c.291+2131_291+2133del XM_005267783.1:c.291+2132_291+2133del XM_005267783.1:c.291+2133del XM_005267783.1:c.291+2133dup XM_005267783.1:c.291+2132_291+2133dup XM_005267783.1:c.291+2131_291+2133dup XM_005267783.1:c.291+2130_291+2133dup XM_005267783.1:c.291+2129_291+2133dup
PPP2R3C transcript variant X3 XM_005267784.1:c.75-156= XM_005267784.1:c.75-160_75-156del XM_005267784.1:c.75-158_75-156del XM_005267784.1:c.75-157_75-156del XM_005267784.1:c.75-156del XM_005267784.1:c.75-156dup XM_005267784.1:c.75-157_75-156dup XM_005267784.1:c.75-158_75-156dup XM_005267784.1:c.75-159_75-156dup XM_005267784.1:c.75-160_75-156dup
PPP2R3C transcript variant X4 XM_005267785.1:c.405-156= XM_005267785.1:c.405-160_405-156del XM_005267785.1:c.405-158_405-156del XM_005267785.1:c.405-157_405-156del XM_005267785.1:c.405-156del XM_005267785.1:c.405-156dup XM_005267785.1:c.405-157_405-156dup XM_005267785.1:c.405-158_405-156dup XM_005267785.1:c.405-159_405-156dup XM_005267785.1:c.405-160_405-156dup
PPP2R3C transcript variant X2 XM_024449638.2:c.312-156= XM_024449638.2:c.312-160_312-156del XM_024449638.2:c.312-158_312-156del XM_024449638.2:c.312-157_312-156del XM_024449638.2:c.312-156del XM_024449638.2:c.312-156dup XM_024449638.2:c.312-157_312-156dup XM_024449638.2:c.312-158_312-156dup XM_024449638.2:c.312-159_312-156dup XM_024449638.2:c.312-160_312-156dup
PPP2R3C transcript variant X3 XM_024449639.2:c.249-156= XM_024449639.2:c.249-160_249-156del XM_024449639.2:c.249-158_249-156del XM_024449639.2:c.249-157_249-156del XM_024449639.2:c.249-156del XM_024449639.2:c.249-156dup XM_024449639.2:c.249-157_249-156dup XM_024449639.2:c.249-158_249-156dup XM_024449639.2:c.249-159_249-156dup XM_024449639.2:c.249-160_249-156dup
PPP2R3C transcript variant X4 XM_047431517.1:c.405-156= XM_047431517.1:c.405-160_405-156del XM_047431517.1:c.405-158_405-156del XM_047431517.1:c.405-157_405-156del XM_047431517.1:c.405-156del XM_047431517.1:c.405-156dup XM_047431517.1:c.405-157_405-156dup XM_047431517.1:c.405-158_405-156dup XM_047431517.1:c.405-159_405-156dup XM_047431517.1:c.405-160_405-156dup
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#.

51 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40468178 Mar 14, 2006 (126)
2 BCMHGSC_JDW ss103557369 Mar 15, 2016 (147)
3 GMI ss287915753 Oct 12, 2018 (152)
4 PJP ss294826941 May 09, 2011 (138)
5 SSMP ss664221140 Apr 01, 2015 (144)
6 1000GENOMES ss1373927680 Aug 21, 2014 (142)
7 EVA_GENOME_DK ss1574739324 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1708009290 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1708009343 Apr 01, 2015 (144)
10 SWEGEN ss3012004401 Nov 08, 2017 (151)
11 EVA_DECODE ss3696442373 Jul 13, 2019 (153)
12 EVA_DECODE ss3696442374 Jul 13, 2019 (153)
13 EVA_DECODE ss3696442375 Jul 13, 2019 (153)
14 ACPOP ss3740274050 Jul 13, 2019 (153)
15 ACPOP ss3740274051 Jul 13, 2019 (153)
16 PACBIO ss3787632022 Jul 13, 2019 (153)
17 KHV_HUMAN_GENOMES ss3817507249 Jul 13, 2019 (153)
18 EVA ss3833855154 Apr 27, 2020 (154)
19 EVA ss3840520284 Apr 27, 2020 (154)
20 EVA ss3846008383 Apr 27, 2020 (154)
21 GNOMAD ss4275944279 Apr 27, 2021 (155)
22 GNOMAD ss4275944280 Apr 27, 2021 (155)
23 GNOMAD ss4275944281 Apr 27, 2021 (155)
24 GNOMAD ss4275944282 Apr 27, 2021 (155)
25 GNOMAD ss4275944283 Apr 27, 2021 (155)
26 GNOMAD ss4275944284 Apr 27, 2021 (155)
27 GNOMAD ss4275944285 Apr 27, 2021 (155)
28 GNOMAD ss4275944286 Apr 27, 2021 (155)
29 TOPMED ss4966432957 Apr 27, 2021 (155)
30 TOMMO_GENOMICS ss5212688608 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5212688609 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5212688610 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5212688611 Apr 27, 2021 (155)
34 1000G_HIGH_COVERAGE ss5295797059 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5295797060 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5295797061 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5295797062 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5295797063 Oct 16, 2022 (156)
39 HUGCELL_USP ss5489895585 Oct 16, 2022 (156)
40 HUGCELL_USP ss5489895586 Oct 16, 2022 (156)
41 HUGCELL_USP ss5489895587 Oct 16, 2022 (156)
42 HUGCELL_USP ss5489895588 Oct 16, 2022 (156)
43 EVA ss5511188623 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5765336579 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5765336580 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5765336581 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5765336582 Oct 16, 2022 (156)
48 EVA ss5840940069 Oct 16, 2022 (156)
49 EVA ss5850982204 Oct 16, 2022 (156)
50 EVA ss5947397720 Oct 16, 2022 (156)
51 EVA ss5980821989 Oct 16, 2022 (156)
52 1000Genomes NC_000014.8 - 35577598 Oct 12, 2018 (152)
53 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 35577598 Oct 12, 2018 (152)
54 The Danish reference pan genome NC_000014.8 - 35577598 Apr 27, 2020 (154)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 447657541 (NC_000014.9:35108391::T 855/134190)
Row 447657542 (NC_000014.9:35108391::TT 177/134202)
Row 447657543 (NC_000014.9:35108391::TTT 14363/134110)...

- Apr 27, 2021 (155)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 13558915 (NC_000014.8:35577597::TTT 72/600)
Row 13558916 (NC_000014.8:35577597:T: 39/600)

- Jul 13, 2019 (153)
64 Northern Sweden

Submission ignored due to conflicting rows:
Row 13558915 (NC_000014.8:35577597::TTT 72/600)
Row 13558916 (NC_000014.8:35577597:T: 39/600)

- Jul 13, 2019 (153)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 70657915 (NC_000014.8:35577597::T 17/16760)
Row 70657916 (NC_000014.8:35577597:T: 31/16760)
Row 70657917 (NC_000014.8:35577597::TTT 654/16760)...

- Apr 27, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 70657915 (NC_000014.8:35577597::T 17/16760)
Row 70657916 (NC_000014.8:35577597:T: 31/16760)
Row 70657917 (NC_000014.8:35577597::TTT 654/16760)...

- Apr 27, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 70657915 (NC_000014.8:35577597::T 17/16760)
Row 70657916 (NC_000014.8:35577597:T: 31/16760)
Row 70657917 (NC_000014.8:35577597::TTT 654/16760)...

- Apr 27, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 70657915 (NC_000014.8:35577597::T 17/16760)
Row 70657916 (NC_000014.8:35577597:T: 31/16760)
Row 70657917 (NC_000014.8:35577597::TTT 654/16760)...

- Apr 27, 2021 (155)
69 14KJPN

Submission ignored due to conflicting rows:
Row 99173683 (NC_000014.9:35108391::TTT 1089/28258)
Row 99173684 (NC_000014.9:35108391:T: 36/28258)
Row 99173685 (NC_000014.9:35108391::TT 1/28258)...

- Oct 16, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 99173683 (NC_000014.9:35108391::TTT 1089/28258)
Row 99173684 (NC_000014.9:35108391:T: 36/28258)
Row 99173685 (NC_000014.9:35108391::TT 1/28258)...

- Oct 16, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 99173683 (NC_000014.9:35108391::TTT 1089/28258)
Row 99173684 (NC_000014.9:35108391:T: 36/28258)
Row 99173685 (NC_000014.9:35108391::TT 1/28258)...

- Oct 16, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 99173683 (NC_000014.9:35108391::TTT 1089/28258)
Row 99173684 (NC_000014.9:35108391:T: 36/28258)
Row 99173685 (NC_000014.9:35108391::TT 1/28258)...

- Oct 16, 2022 (156)
73 TopMed NC_000014.9 - 35108392 Apr 27, 2021 (155)
74 UK 10K study - Twins NC_000014.8 - 35577598 Oct 12, 2018 (152)
75 ALFA NC_000014.9 - 35108392 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)
rs72318960 May 15, 2013 (138)
rs142746581 Sep 17, 2011 (135)
rs79587839 Oct 12, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
181978616, ss4275944286, ss4966432957 NC_000014.9:35108391:TTTTT: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss5511188623 NC_000014.8:35577597:TTT: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTT

ss4275944285 NC_000014.9:35108391:TT: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss103557369 NT_026437.12:16577609:TT: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
442688, ss1574739324, ss3012004401, ss3740274051, ss3787632022, ss5212688609, ss5980821989 NC_000014.8:35577597:T: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss3696442373, ss4275944284, ss5295797059, ss5489895585, ss5765336580 NC_000014.9:35108391:T: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss40468178 NT_026437.12:16577610:T: NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss5212688608 NC_000014.8:35577597::T NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4275944279, ss5295797062, ss5489895588, ss5765336582 NC_000014.9:35108391::T NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3696442374 NC_000014.9:35108392::T NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss5212688611 NC_000014.8:35577597::TT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4275944280, ss5295797063, ss5765336581 NC_000014.9:35108391::TT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss294826941 NC_000014.7:34647349::TTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
63483032, 35266074, 35266074, ss664221140, ss1373927680, ss1708009290, ss1708009343, ss3740274050, ss3833855154, ss3840520284, ss5212688610, ss5840940069, ss5947397720 NC_000014.8:35577597::TTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3817507249, ss3846008383, ss4275944281, ss5295797060, ss5489895586, ss5765336579, ss5850982204 NC_000014.9:35108391::TTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3696442375 NC_000014.9:35108392::TTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss287915753 NT_026437.12:16577611::TTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4275944282, ss5295797061, ss5489895587 NC_000014.9:35108391::TTTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4275944283 NC_000014.9:35108391::TTTTT NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
10478823448 NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000014.9:35108391:TTTTTTTTTTTTT…

NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(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 rs10656897

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.post820+afb47a3d