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.

rs145955070

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:89770672-89770680 (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
delATAA / dupATAA
Variation Type
Indel Insertion and Deletion
Frequency
delATAA=0.065907 (17445/264690, TOPMED)
delATAA=0.061014 (8534/139870, GnomAD)
delATAA=0.04647 (1313/28256, 14KJPN) (+ 8 more)
delATAA=0.04743 (795/16760, 8.3KJPN)
delATAA=0.04178 (587/14050, ALFA)
delATAA=0.0853 (546/6404, 1000G_30x)
delATAA=0.0827 (414/5008, 1000G)
delATAA=0.0021 (8/3854, ALSPAC)
delATAA=0.0008 (3/3708, TWINSUK)
delATAA=0.0508 (93/1832, Korea1K)
delATAA=0.080 (17/212, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIPK2 : 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 14050 AATAAATAA=0.95822 AATAA=0.04178
European Sub 9690 AATAAATAA=0.9982 AATAA=0.0018
African Sub 2898 AATAAATAA=0.8195 AATAA=0.1805
African Others Sub 114 AATAAATAA=0.825 AATAA=0.175
African American Sub 2784 AATAAATAA=0.8193 AATAA=0.1807
Asian Sub 112 AATAAATAA=0.938 AATAA=0.062
East Asian Sub 86 AATAAATAA=0.92 AATAA=0.08
Other Asian Sub 26 AATAAATAA=1.00 AATAA=0.00
Latin American 1 Sub 146 AATAAATAA=0.959 AATAA=0.041
Latin American 2 Sub 610 AATAAATAA=0.987 AATAA=0.013
South Asian Sub 98 AATAAATAA=1.00 AATAA=0.00
Other Sub 496 AATAAATAA=0.948 AATAA=0.052


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 (AATA)2A=0.934093 delATAA=0.065907
gnomAD - Genomes Global Study-wide 139870 (AATA)2A=0.938986 delATAA=0.061014
gnomAD - Genomes European Sub 75742 (AATA)2A=0.99868 delATAA=0.00132
gnomAD - Genomes African Sub 41968 (AATA)2A=0.81443 delATAA=0.18557
gnomAD - Genomes American Sub 13576 (AATA)2A=0.97768 delATAA=0.02232
gnomAD - Genomes Ashkenazi Jewish Sub 3320 (AATA)2A=0.9925 delATAA=0.0075
gnomAD - Genomes East Asian Sub 3118 (AATA)2A=0.9346 delATAA=0.0654
gnomAD - Genomes Other Sub 2146 (AATA)2A=0.9469 delATAA=0.0531
14KJPN JAPANESE Study-wide 28256 (AATA)2A=0.95353 delATAA=0.04647
8.3KJPN JAPANESE Study-wide 16760 (AATA)2A=0.95257 delATAA=0.04743
Allele Frequency Aggregator Total Global 14050 (AATA)2A=0.95822 delATAA=0.04178
Allele Frequency Aggregator European Sub 9690 (AATA)2A=0.9982 delATAA=0.0018
Allele Frequency Aggregator African Sub 2898 (AATA)2A=0.8195 delATAA=0.1805
Allele Frequency Aggregator Latin American 2 Sub 610 (AATA)2A=0.987 delATAA=0.013
Allele Frequency Aggregator Other Sub 496 (AATA)2A=0.948 delATAA=0.052
Allele Frequency Aggregator Latin American 1 Sub 146 (AATA)2A=0.959 delATAA=0.041
Allele Frequency Aggregator Asian Sub 112 (AATA)2A=0.938 delATAA=0.062
Allele Frequency Aggregator South Asian Sub 98 (AATA)2A=1.00 delATAA=0.00
1000Genomes_30x Global Study-wide 6404 (AATA)2A=0.9147 delATAA=0.0853
1000Genomes_30x African Sub 1786 (AATA)2A=0.7693 delATAA=0.2307
1000Genomes_30x Europe Sub 1266 (AATA)2A=0.9953 delATAA=0.0047
1000Genomes_30x South Asian Sub 1202 (AATA)2A=0.9884 delATAA=0.0116
1000Genomes_30x East Asian Sub 1170 (AATA)2A=0.9231 delATAA=0.0769
1000Genomes_30x American Sub 980 (AATA)2A=0.976 delATAA=0.024
1000Genomes Global Study-wide 5008 (AATA)2A=0.9173 delATAA=0.0827
1000Genomes African Sub 1322 (AATA)2A=0.7738 delATAA=0.2262
1000Genomes East Asian Sub 1008 (AATA)2A=0.9236 delATAA=0.0764
1000Genomes Europe Sub 1006 (AATA)2A=0.9960 delATAA=0.0040
1000Genomes South Asian Sub 978 (AATA)2A=0.989 delATAA=0.011
1000Genomes American Sub 694 (AATA)2A=0.967 delATAA=0.033
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (AATA)2A=0.9979 delATAA=0.0021
UK 10K study - Twins TWIN COHORT Study-wide 3708 (AATA)2A=0.9992 delATAA=0.0008
Korean Genome Project KOREAN Study-wide 1832 (AATA)2A=0.9492 delATAA=0.0508
A Vietnamese Genetic Variation Database Global Study-wide 212 (AATA)2A=0.920 delATAA=0.080
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 8 NC_000008.11:g.89770673ATAA[1]
GRCh38.p14 chr 8 NC_000008.11:g.89770673ATAA[3]
GRCh37.p13 chr 8 NC_000008.10:g.90782901ATAA[1]
GRCh37.p13 chr 8 NC_000008.10:g.90782901ATAA[3]
RIPK2 RefSeqGene NG_033016.2:g.17927ATAA[1]
RIPK2 RefSeqGene NG_033016.2:g.17927ATAA[3]
Gene: RIPK2, receptor interacting serine/threonine kinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPK2 transcript variant 2 NM_001375360.1:c.230+748_…

NM_001375360.1:c.230+748_230+751del

N/A Intron Variant
RIPK2 transcript variant 1 NM_003821.6:c.641+748_641…

NM_003821.6:c.641+748_641+751del

N/A Intron Variant
RIPK2 transcript variant X1 XM_011517357.3:c.128+748_…

XM_011517357.3:c.128+748_128+751del

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 (AATA)2A= delATAA dupATAA
GRCh38.p14 chr 8 NC_000008.11:g.89770672_89770680= NC_000008.11:g.89770673ATAA[1] NC_000008.11:g.89770673ATAA[3]
GRCh37.p13 chr 8 NC_000008.10:g.90782900_90782908= NC_000008.10:g.90782901ATAA[1] NC_000008.10:g.90782901ATAA[3]
RIPK2 RefSeqGene NG_033016.2:g.17926_17934= NG_033016.2:g.17927ATAA[1] NG_033016.2:g.17927ATAA[3]
RIPK2 transcript variant 2 NM_001375360.1:c.230+743= NM_001375360.1:c.230+748_230+751del NM_001375360.1:c.230+743AATA[3]
RIPK2 transcript NM_003821.5:c.641+743= NM_003821.5:c.641+748_641+751del NM_003821.5:c.641+743AATA[3]
RIPK2 transcript variant 1 NM_003821.6:c.641+743= NM_003821.6:c.641+748_641+751del NM_003821.6:c.641+743AATA[3]
RIPK2 transcript variant X1 XM_005251092.1:c.230+743= XM_005251092.1:c.230+748_230+751del XM_005251092.1:c.230+743AATA[3]
RIPK2 transcript variant X1 XM_011517357.3:c.128+743= XM_011517357.3:c.128+748_128+751del XM_011517357.3:c.128+743AATA[3]
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#.

26 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss327075885 May 09, 2011 (134)
2 1000GENOMES ss327474390 May 09, 2011 (134)
3 1000GENOMES ss498775789 May 04, 2012 (137)
4 LUNTER ss552088472 Apr 25, 2013 (138)
5 LUNTER ss553350189 Apr 25, 2013 (138)
6 SSMP ss663879314 Apr 01, 2015 (144)
7 1000GENOMES ss1368013210 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1706147553 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1706147822 Apr 01, 2015 (144)
10 EVA_DECODE ss3722509748 Jul 13, 2019 (153)
11 KHV_HUMAN_GENOMES ss3811466797 Jul 13, 2019 (153)
12 KOGIC ss3964351391 Apr 26, 2020 (154)
13 GNOMAD ss4188906495 Apr 26, 2021 (155)
14 TOPMED ss4795172456 Apr 26, 2021 (155)
15 TOMMO_GENOMICS ss5189847397 Apr 26, 2021 (155)
16 1000G_HIGH_COVERAGE ss5278043916 Oct 16, 2022 (156)
17 HUGCELL_USP ss5474511002 Oct 16, 2022 (156)
18 EVA ss5509456026 Oct 16, 2022 (156)
19 1000G_HIGH_COVERAGE ss5568896600 Oct 16, 2022 (156)
20 SANFORD_IMAGENETICS ss5645901851 Oct 16, 2022 (156)
21 TOMMO_GENOMICS ss5732242512 Oct 16, 2022 (156)
22 YY_MCH ss5809922167 Oct 16, 2022 (156)
23 EVA ss5830878993 Oct 16, 2022 (156)
24 EVA ss5856471911 Oct 16, 2022 (156)
25 EVA ss5889993282 Oct 16, 2022 (156)
26 EVA ss5975129281 Oct 16, 2022 (156)
27 1000Genomes NC_000008.10 - 90782900 Oct 12, 2018 (152)
28 1000Genomes_30x NC_000008.11 - 89770672 Oct 16, 2022 (156)
29 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 90782900 Oct 12, 2018 (152)
30 gnomAD - Genomes NC_000008.11 - 89770672 Apr 26, 2021 (155)
31 Korean Genome Project NC_000008.11 - 89770672 Apr 26, 2020 (154)
32 8.3KJPN NC_000008.10 - 90782900 Apr 26, 2021 (155)
33 14KJPN NC_000008.11 - 89770672 Oct 16, 2022 (156)
34 TopMed NC_000008.11 - 89770672 Apr 26, 2021 (155)
35 UK 10K study - Twins NC_000008.10 - 90782900 Oct 12, 2018 (152)
36 A Vietnamese Genetic Variation Database NC_000008.10 - 90782900 Jul 13, 2019 (153)
37 ALFA NC_000008.11 - 89770672 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss327075885, ss327474390, ss552088472, ss553350189 NC_000008.9:90852036:AATA: NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAA

(self)
43045101, 23937889, 47816704, 23937889, 5323728, ss498775789, ss663879314, ss1368013210, ss1706147553, ss1706147822, ss5189847397, ss5645901851, ss5830878993, ss5975129281 NC_000008.10:90782899:AATA: NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAA

(self)
56422535, 303583205, 20729392, 66079616, 632550016, ss3722509748, ss3811466797, ss3964351391, ss4188906495, ss4795172456, ss5278043916, ss5474511002, ss5568896600, ss5732242512, ss5809922167, ss5856471911, ss5889993282 NC_000008.11:89770671:AATA: NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAA

(self)
6640552555 NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAA

NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAA

(self)
ss5509456026 NC_000008.10:90782899::AATA NC_000008.11:89770671:AATAAATAA:AA…

NC_000008.11:89770671:AATAAATAA:AATAAATAAATAA

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 rs145955070

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