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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.

rs35823658

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:12739342-12739359 (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(A)10 / del(A)4 / delAAA / delA…

del(A)10 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / ins(A)27

Variation Type
Indel Insertion and Deletion
Frequency
del(A)10=0.000 (0/174, ALFA)
delAAA=0.000 (0/174, ALFA)
delAA=0.000 (0/174, ALFA) (+ 3 more)
delA=0.000 (0/174, ALFA)
dupA=0.000 (0/174, ALFA)
dupAA=0.000 (0/174, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LONRF1 : 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 174 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 30 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 134 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 132 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A


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
Allele Frequency Aggregator Total Global 174 (A)18=1.000 del(A)10=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator African Sub 134 (A)18=1.000 del(A)10=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator European Sub 30 (A)18=1.00 del(A)10=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 2 Sub 4 (A)18=1.0 del(A)10=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Other Sub 4 (A)18=1.0 del(A)10=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 2 (A)18=1.0 del(A)10=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator South Asian Sub 0 (A)18=0 del(A)10=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator Asian Sub 0 (A)18=0 del(A)10=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
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.12739350_12739359del
GRCh38.p14 chr 8 NC_000008.11:g.12739356_12739359del
GRCh38.p14 chr 8 NC_000008.11:g.12739357_12739359del
GRCh38.p14 chr 8 NC_000008.11:g.12739358_12739359del
GRCh38.p14 chr 8 NC_000008.11:g.12739359del
GRCh38.p14 chr 8 NC_000008.11:g.12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739358_12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739357_12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739356_12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739355_12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739354_12739359dup
GRCh38.p14 chr 8 NC_000008.11:g.12739359_12739360insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8 NC_000008.10:g.12596859_12596868del
GRCh37.p13 chr 8 NC_000008.10:g.12596865_12596868del
GRCh37.p13 chr 8 NC_000008.10:g.12596866_12596868del
GRCh37.p13 chr 8 NC_000008.10:g.12596867_12596868del
GRCh37.p13 chr 8 NC_000008.10:g.12596868del
GRCh37.p13 chr 8 NC_000008.10:g.12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596867_12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596866_12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596865_12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596864_12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596863_12596868dup
GRCh37.p13 chr 8 NC_000008.10:g.12596868_12596869insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934700_5934709del
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934706_5934709del
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934707_5934709del
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934708_5934709del
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934709del
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934708_5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934707_5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934706_5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934705_5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934704_5934709dup
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934709_5934710insAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: LONRF1, LON peptidase N-terminal domain and ring finger 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LONRF1 transcript variant 2 NM_001329976.2:c.964-1207…

NM_001329976.2:c.964-1207_964-1198del

N/A Intron Variant
LONRF1 transcript variant 1 NM_152271.5:c.964-1207_96…

NM_152271.5:c.964-1207_964-1198del

N/A Intron Variant
LONRF1 transcript variant 3 NR_138255.2:n. N/A Intron Variant
LONRF1 transcript variant 4 NR_138256.2:n. N/A Intron Variant
LONRF1 transcript variant X1 XM_011544694.4:c.271-1207…

XM_011544694.4:c.271-1207_271-1198del

N/A Intron Variant
LONRF1 transcript variant X2 XM_047422414.1:c.271-1207…

XM_047422414.1:c.271-1207_271-1198del

N/A Intron Variant
LONRF1 transcript variant X3 XM_047422415.1:c.964-1207…

XM_047422415.1:c.964-1207_964-1198del

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 (A)18= del(A)10 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 ins(A)27
GRCh38.p14 chr 8 NC_000008.11:g.12739342_12739359= NC_000008.11:g.12739350_12739359del NC_000008.11:g.12739356_12739359del NC_000008.11:g.12739357_12739359del NC_000008.11:g.12739358_12739359del NC_000008.11:g.12739359del NC_000008.11:g.12739359dup NC_000008.11:g.12739358_12739359dup NC_000008.11:g.12739357_12739359dup NC_000008.11:g.12739356_12739359dup NC_000008.11:g.12739355_12739359dup NC_000008.11:g.12739354_12739359dup NC_000008.11:g.12739359_12739360insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8 NC_000008.10:g.12596851_12596868= NC_000008.10:g.12596859_12596868del NC_000008.10:g.12596865_12596868del NC_000008.10:g.12596866_12596868del NC_000008.10:g.12596867_12596868del NC_000008.10:g.12596868del NC_000008.10:g.12596868dup NC_000008.10:g.12596867_12596868dup NC_000008.10:g.12596866_12596868dup NC_000008.10:g.12596865_12596868dup NC_000008.10:g.12596864_12596868dup NC_000008.10:g.12596863_12596868dup NC_000008.10:g.12596868_12596869insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8 fix patch HG76_PATCH NW_018654717.1:g.5934692_5934709= NW_018654717.1:g.5934700_5934709del NW_018654717.1:g.5934706_5934709del NW_018654717.1:g.5934707_5934709del NW_018654717.1:g.5934708_5934709del NW_018654717.1:g.5934709del NW_018654717.1:g.5934709dup NW_018654717.1:g.5934708_5934709dup NW_018654717.1:g.5934707_5934709dup NW_018654717.1:g.5934706_5934709dup NW_018654717.1:g.5934705_5934709dup NW_018654717.1:g.5934704_5934709dup NW_018654717.1:g.5934709_5934710insAAAAAAAAAAAAAAAAAAAAAAAAAAA
LONRF1 transcript variant 2 NM_001329976.2:c.964-1198= NM_001329976.2:c.964-1207_964-1198del NM_001329976.2:c.964-1201_964-1198del NM_001329976.2:c.964-1200_964-1198del NM_001329976.2:c.964-1199_964-1198del NM_001329976.2:c.964-1198del NM_001329976.2:c.964-1198dup NM_001329976.2:c.964-1199_964-1198dup NM_001329976.2:c.964-1200_964-1198dup NM_001329976.2:c.964-1201_964-1198dup NM_001329976.2:c.964-1202_964-1198dup NM_001329976.2:c.964-1203_964-1198dup NM_001329976.2:c.964-1198_964-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript NM_152271.3:c.964-1198= NM_152271.3:c.964-1207_964-1198del NM_152271.3:c.964-1201_964-1198del NM_152271.3:c.964-1200_964-1198del NM_152271.3:c.964-1199_964-1198del NM_152271.3:c.964-1198del NM_152271.3:c.964-1198dup NM_152271.3:c.964-1199_964-1198dup NM_152271.3:c.964-1200_964-1198dup NM_152271.3:c.964-1201_964-1198dup NM_152271.3:c.964-1202_964-1198dup NM_152271.3:c.964-1203_964-1198dup NM_152271.3:c.964-1198_964-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript variant 1 NM_152271.5:c.964-1198= NM_152271.5:c.964-1207_964-1198del NM_152271.5:c.964-1201_964-1198del NM_152271.5:c.964-1200_964-1198del NM_152271.5:c.964-1199_964-1198del NM_152271.5:c.964-1198del NM_152271.5:c.964-1198dup NM_152271.5:c.964-1199_964-1198dup NM_152271.5:c.964-1200_964-1198dup NM_152271.5:c.964-1201_964-1198dup NM_152271.5:c.964-1202_964-1198dup NM_152271.5:c.964-1203_964-1198dup NM_152271.5:c.964-1198_964-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript variant X1 XM_005273685.1:c.964-1198= XM_005273685.1:c.964-1207_964-1198del XM_005273685.1:c.964-1201_964-1198del XM_005273685.1:c.964-1200_964-1198del XM_005273685.1:c.964-1199_964-1198del XM_005273685.1:c.964-1198del XM_005273685.1:c.964-1198dup XM_005273685.1:c.964-1199_964-1198dup XM_005273685.1:c.964-1200_964-1198dup XM_005273685.1:c.964-1201_964-1198dup XM_005273685.1:c.964-1202_964-1198dup XM_005273685.1:c.964-1203_964-1198dup XM_005273685.1:c.964-1198_964-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript variant X1 XM_011544694.4:c.271-1198= XM_011544694.4:c.271-1207_271-1198del XM_011544694.4:c.271-1201_271-1198del XM_011544694.4:c.271-1200_271-1198del XM_011544694.4:c.271-1199_271-1198del XM_011544694.4:c.271-1198del XM_011544694.4:c.271-1198dup XM_011544694.4:c.271-1199_271-1198dup XM_011544694.4:c.271-1200_271-1198dup XM_011544694.4:c.271-1201_271-1198dup XM_011544694.4:c.271-1202_271-1198dup XM_011544694.4:c.271-1203_271-1198dup XM_011544694.4:c.271-1198_271-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript variant X2 XM_047422414.1:c.271-1198= XM_047422414.1:c.271-1207_271-1198del XM_047422414.1:c.271-1201_271-1198del XM_047422414.1:c.271-1200_271-1198del XM_047422414.1:c.271-1199_271-1198del XM_047422414.1:c.271-1198del XM_047422414.1:c.271-1198dup XM_047422414.1:c.271-1199_271-1198dup XM_047422414.1:c.271-1200_271-1198dup XM_047422414.1:c.271-1201_271-1198dup XM_047422414.1:c.271-1202_271-1198dup XM_047422414.1:c.271-1203_271-1198dup XM_047422414.1:c.271-1198_271-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
LONRF1 transcript variant X3 XM_047422415.1:c.964-1198= XM_047422415.1:c.964-1207_964-1198del XM_047422415.1:c.964-1201_964-1198del XM_047422415.1:c.964-1200_964-1198del XM_047422415.1:c.964-1199_964-1198del XM_047422415.1:c.964-1198del XM_047422415.1:c.964-1198dup XM_047422415.1:c.964-1199_964-1198dup XM_047422415.1:c.964-1200_964-1198dup XM_047422415.1:c.964-1201_964-1198dup XM_047422415.1:c.964-1202_964-1198dup XM_047422415.1:c.964-1203_964-1198dup XM_047422415.1:c.964-1198_964-1197insTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

49 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81678906 Sep 08, 2015 (146)
2 HUMANGENOME_JCVI ss95484466 Feb 03, 2009 (137)
3 GMI ss288891800 May 04, 2012 (137)
4 PJP ss295369421 May 09, 2011 (137)
5 PJP ss295369422 May 09, 2011 (137)
6 SSMP ss663827124 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1705948459 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1705948595 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710367510 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710367512 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710367676 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1710367677 Apr 01, 2015 (144)
13 SWEGEN ss3002680082 Nov 08, 2017 (151)
14 MCHAISSO ss3065174588 Nov 08, 2017 (151)
15 MCHAISSO ss3066188189 Nov 08, 2017 (151)
16 URBANLAB ss3648849425 Oct 12, 2018 (152)
17 EVA_DECODE ss3721407349 Jul 13, 2019 (153)
18 EVA_DECODE ss3721407350 Jul 13, 2019 (153)
19 EVA_DECODE ss3721407351 Jul 13, 2019 (153)
20 EVA_DECODE ss3721407352 Jul 13, 2019 (153)
21 EVA_DECODE ss3721407353 Jul 13, 2019 (153)
22 PACBIO ss3786063973 Jul 13, 2019 (153)
23 PACBIO ss3786063974 Jul 13, 2019 (153)
24 PACBIO ss3791332179 Jul 13, 2019 (153)
25 PACBIO ss3796213264 Jul 13, 2019 (153)
26 EVA ss3831010540 Apr 26, 2020 (154)
27 GNOMAD ss4179131186 Apr 26, 2021 (155)
28 GNOMAD ss4179131187 Apr 26, 2021 (155)
29 GNOMAD ss4179131188 Apr 26, 2021 (155)
30 GNOMAD ss4179131189 Apr 26, 2021 (155)
31 GNOMAD ss4179131190 Apr 26, 2021 (155)
32 GNOMAD ss4179131191 Apr 26, 2021 (155)
33 GNOMAD ss4179131192 Apr 26, 2021 (155)
34 GNOMAD ss4179131193 Apr 26, 2021 (155)
35 GNOMAD ss4179131194 Apr 26, 2021 (155)
36 GNOMAD ss4179131195 Apr 26, 2021 (155)
37 GNOMAD ss4179131196 Apr 26, 2021 (155)
38 GNOMAD ss4179131197 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5187329393 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5187329394 Apr 26, 2021 (155)
41 1000G_HIGH_COVERAGE ss5276065022 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5276065023 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5276065024 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5276065025 Oct 13, 2022 (156)
45 HUGCELL_USP ss5472738787 Oct 13, 2022 (156)
46 HUGCELL_USP ss5472738788 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5728859617 Oct 13, 2022 (156)
48 TOMMO_GENOMICS ss5728859618 Oct 13, 2022 (156)
49 YY_MCH ss5809447069 Oct 13, 2022 (156)
50 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 22618829 (NC_000008.10:12596851:A: 1007/3854)
Row 22618830 (NC_000008.10:12596850:AAA: 201/3854)

- Oct 12, 2018 (152)
51 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 22618829 (NC_000008.10:12596851:A: 1007/3854)
Row 22618830 (NC_000008.10:12596850:AAA: 201/3854)

- Oct 12, 2018 (152)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 287100246 (NC_000008.11:12739341::A 202/97364)
Row 287100247 (NC_000008.11:12739341::AA 0/97390)
Row 287100248 (NC_000008.11:12739341::AAA 3/97378)...

- Apr 26, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 45298700 (NC_000008.10:12596850:A: 14521/16744)
Row 45298701 (NC_000008.10:12596850:AA: 16/16744)

- Apr 26, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 45298700 (NC_000008.10:12596850:A: 14521/16744)
Row 45298701 (NC_000008.10:12596850:AA: 16/16744)

- Apr 26, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 62696721 (NC_000008.11:12739341:A: 25469/27968)
Row 62696722 (NC_000008.11:12739341:AA: 22/27968)

- Oct 13, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 62696721 (NC_000008.11:12739341:A: 25469/27968)
Row 62696722 (NC_000008.11:12739341:AA: 22/27968)

- Oct 13, 2022 (156)
68 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 22618828 (NC_000008.10:12596852:A: 2518/3708)
Row 22618829 (NC_000008.10:12596851:AA: 963/3708)
Row 22618830 (NC_000008.10:12596850:AAA: 216/3708)

- Apr 26, 2020 (154)
69 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 22618829 (NC_000008.10:12596851:A: 963/3708)
Row 22618830 (NC_000008.10:12596850:AAA: 216/3708)

- Oct 12, 2018 (152)
70 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 22618829 (NC_000008.10:12596851:A: 963/3708)
Row 22618830 (NC_000008.10:12596850:AAA: 216/3708)

- Oct 12, 2018 (152)
71 ALFA NC_000008.11 - 12739342 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).

Associated ID History Updated (Build)
rs57013849 May 11, 2012 (137)
rs140578070 May 11, 2012 (137)
rs372244753 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4179131197 NC_000008.11:12739341:AAAAAAAAAA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4179131196 NC_000008.11:12739341:AAAA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1705948459, ss1705948595 NC_000008.10:12596850:AAA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3721407353, ss4179131195 NC_000008.11:12739341:AAA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3002680082, ss3786063974, ss5187329394 NC_000008.10:12596850:AA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710367512, ss1710367677 NC_000008.10:12596851:AA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4179131194, ss5276065024, ss5472738787, ss5728859618 NC_000008.11:12739341:AA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3721407352 NC_000008.11:12739342:AA: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss288891800, ss295369421 NC_000008.9:12641221:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss81678906, ss295369422 NC_000008.9:12641238:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss663827124, ss3786063973, ss3791332179, ss3796213264, ss3831010540, ss5187329393 NC_000008.10:12596850:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000008.10:12596851:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710367510, ss1710367676 NC_000008.10:12596852:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3065174588, ss3066188189, ss3648849425, ss4179131193, ss5276065022, ss5472738788, ss5728859617, ss5809447069 NC_000008.11:12739341:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3721407351 NC_000008.11:12739343:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss95484466 NT_167187.1:455013:A: NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4179131186, ss5276065023 NC_000008.11:12739341::A NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3721407350 NC_000008.11:12739344::A NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4179131187, ss5276065025 NC_000008.11:12739341::AA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2087414241 NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4179131188 NC_000008.11:12739341::AAA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4179131189 NC_000008.11:12739341::AAAA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3721407349 NC_000008.11:12739344::AAAA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4179131190 NC_000008.11:12739341::AAAAA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4179131191 NC_000008.11:12739341::AAAAAA NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4179131192 NC_000008.11:12739341::AAAAAAAAAAA…

NC_000008.11:12739341::AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:12739341:AAAAAAAAAAAA…

NC_000008.11:12739341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs35823658

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