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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.

rs529922831

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:37013045-37013053 (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
delCC / delC / dupC / dupCC / dupC…

delCC / delC / dupC / dupCC / dupCCC / dup(C)5

Variation Type
Indel Insertion and Deletion
Frequency
dupC=0.03408 (404/11854, ALFA)
dupC=0.1408 (705/5008, 1000G)
dupC=0.1194 (460/3854, ALSPAC) (+ 4 more)
dupC=0.1187 (440/3708, TWINSUK)
dupC=0.0707 (128/1810, Korea1K)
dupC=0.17 (7/40, GENOME_DK)
dupC=0.1 (1/8, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NIPBL : 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 11854 CCCCCCCCC=0.96229 CCCCCCC=0.00000, CCCCCCCC=0.00363, CCCCCCCCCC=0.03408, CCCCCCCCCCC=0.00000, CCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCC=0.00000 0.938987 0.007138 0.053875 32
European Sub 9646 CCCCCCCCC=0.9537 CCCCCCC=0.0000, CCCCCCCC=0.0045, CCCCCCCCCC=0.0419, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000 0.924895 0.008787 0.066318 32
African Sub 1298 CCCCCCCCC=1.0000 CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 40 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
African American Sub 1258 CCCCCCCCC=1.0000 CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 88 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 68 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 84 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 328 CCCCCCCCC=1.000 CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 70 CCCCCCCCC=1.00 CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00 1.0 0.0 0.0 N/A
Other Sub 340 CCCCCCCCC=1.000 CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000 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 11854 (C)9=0.96229 delCC=0.00000, delC=0.00363, dupC=0.03408, dupCC=0.00000, dupCCC=0.00000, dup(C)5=0.00000
Allele Frequency Aggregator European Sub 9646 (C)9=0.9537 delCC=0.0000, delC=0.0045, dupC=0.0419, dupCC=0.0000, dupCCC=0.0000, dup(C)5=0.0000
Allele Frequency Aggregator African Sub 1298 (C)9=1.0000 delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)5=0.0000
Allele Frequency Aggregator Other Sub 340 (C)9=1.000 delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)5=0.000
Allele Frequency Aggregator Latin American 2 Sub 328 (C)9=1.000 delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)5=0.000
Allele Frequency Aggregator Asian Sub 88 (C)9=1.00 delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 84 (C)9=1.00 delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)5=0.00
Allele Frequency Aggregator South Asian Sub 70 (C)9=1.00 delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)5=0.00
1000Genomes Global Study-wide 5008 -

No frequency provided

dupC=0.1408
1000Genomes African Sub 1322 -

No frequency provided

dupC=0.2171
1000Genomes East Asian Sub 1008 -

No frequency provided

dupC=0.0665
1000Genomes Europe Sub 1006 -

No frequency provided

dupC=0.1024
1000Genomes South Asian Sub 978 -

No frequency provided

dupC=0.102
1000Genomes American Sub 694 -

No frequency provided

dupC=0.213
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupC=0.1194
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupC=0.1187
Korean Genome Project KOREAN Study-wide 1810 -

No frequency provided

dupC=0.0707
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupC=0.17
KOREAN population from KRGDB KOREAN Study-wide 8 -

No frequency provided

dupC=0.1
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 5 NC_000005.10:g.37013052_37013053del
GRCh38.p14 chr 5 NC_000005.10:g.37013053del
GRCh38.p14 chr 5 NC_000005.10:g.37013053dup
GRCh38.p14 chr 5 NC_000005.10:g.37013052_37013053dup
GRCh38.p14 chr 5 NC_000005.10:g.37013051_37013053dup
GRCh38.p14 chr 5 NC_000005.10:g.37013049_37013053dup
GRCh37.p13 chr 5 NC_000005.9:g.37013154_37013155del
GRCh37.p13 chr 5 NC_000005.9:g.37013155del
GRCh37.p13 chr 5 NC_000005.9:g.37013155dup
GRCh37.p13 chr 5 NC_000005.9:g.37013154_37013155dup
GRCh37.p13 chr 5 NC_000005.9:g.37013153_37013155dup
GRCh37.p13 chr 5 NC_000005.9:g.37013151_37013155dup
NIPBL RefSeqGene NG_006987.2:g.141170_141171del
NIPBL RefSeqGene NG_006987.2:g.141171del
NIPBL RefSeqGene NG_006987.2:g.141171dup
NIPBL RefSeqGene NG_006987.2:g.141170_141171dup
NIPBL RefSeqGene NG_006987.2:g.141169_141171dup
NIPBL RefSeqGene NG_006987.2:g.141167_141171dup
Gene: NIPBL, NIPBL cohesin loading factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NIPBL transcript variant B NM_015384.5:c.4561-1631_4…

NM_015384.5:c.4561-1631_4561-1630del

N/A Intron Variant
NIPBL transcript variant A NM_133433.4:c.4561-1631_4…

NM_133433.4:c.4561-1631_4561-1630del

N/A Intron Variant
NIPBL transcript variant X3 XM_005248280.4:c.4561-163…

XM_005248280.4:c.4561-1631_4561-1630del

N/A Intron Variant
NIPBL transcript variant X5 XM_005248282.6:c.3901-163…

XM_005248282.6:c.3901-1631_3901-1630del

N/A Intron Variant
NIPBL transcript variant X1 XM_006714467.3:c.4561-163…

XM_006714467.3:c.4561-1631_4561-1630del

N/A Intron Variant
NIPBL transcript variant X2 XM_006714468.3:c.4363-163…

XM_006714468.3:c.4363-1631_4363-1630del

N/A Intron Variant
NIPBL transcript variant X6 XM_011514015.2:c.4561-163…

XM_011514015.2:c.4561-1631_4561-1630del

N/A Intron Variant
NIPBL transcript variant X4 XM_017009329.2:c.4561-163…

XM_017009329.2:c.4561-1631_4561-1630del

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 (C)9= delCC delC dupC dupCC dupCCC dup(C)5
GRCh38.p14 chr 5 NC_000005.10:g.37013045_37013053= NC_000005.10:g.37013052_37013053del NC_000005.10:g.37013053del NC_000005.10:g.37013053dup NC_000005.10:g.37013052_37013053dup NC_000005.10:g.37013051_37013053dup NC_000005.10:g.37013049_37013053dup
GRCh37.p13 chr 5 NC_000005.9:g.37013147_37013155= NC_000005.9:g.37013154_37013155del NC_000005.9:g.37013155del NC_000005.9:g.37013155dup NC_000005.9:g.37013154_37013155dup NC_000005.9:g.37013153_37013155dup NC_000005.9:g.37013151_37013155dup
NIPBL RefSeqGene NG_006987.2:g.141163_141171= NG_006987.2:g.141170_141171del NG_006987.2:g.141171del NG_006987.2:g.141171dup NG_006987.2:g.141170_141171dup NG_006987.2:g.141169_141171dup NG_006987.2:g.141167_141171dup
NIPBL transcript variant B NM_015384.4:c.4561-1638= NM_015384.4:c.4561-1631_4561-1630del NM_015384.4:c.4561-1630del NM_015384.4:c.4561-1630dup NM_015384.4:c.4561-1631_4561-1630dup NM_015384.4:c.4561-1632_4561-1630dup NM_015384.4:c.4561-1634_4561-1630dup
NIPBL transcript variant B NM_015384.5:c.4561-1638= NM_015384.5:c.4561-1631_4561-1630del NM_015384.5:c.4561-1630del NM_015384.5:c.4561-1630dup NM_015384.5:c.4561-1631_4561-1630dup NM_015384.5:c.4561-1632_4561-1630dup NM_015384.5:c.4561-1634_4561-1630dup
NIPBL transcript variant A NM_133433.3:c.4561-1638= NM_133433.3:c.4561-1631_4561-1630del NM_133433.3:c.4561-1630del NM_133433.3:c.4561-1630dup NM_133433.3:c.4561-1631_4561-1630dup NM_133433.3:c.4561-1632_4561-1630dup NM_133433.3:c.4561-1634_4561-1630dup
NIPBL transcript variant A NM_133433.4:c.4561-1638= NM_133433.4:c.4561-1631_4561-1630del NM_133433.4:c.4561-1630del NM_133433.4:c.4561-1630dup NM_133433.4:c.4561-1631_4561-1630dup NM_133433.4:c.4561-1632_4561-1630dup NM_133433.4:c.4561-1634_4561-1630dup
NIPBL transcript variant X1 XM_005248280.1:c.4561-1638= XM_005248280.1:c.4561-1631_4561-1630del XM_005248280.1:c.4561-1630del XM_005248280.1:c.4561-1630dup XM_005248280.1:c.4561-1631_4561-1630dup XM_005248280.1:c.4561-1632_4561-1630dup XM_005248280.1:c.4561-1634_4561-1630dup
NIPBL transcript variant X3 XM_005248280.4:c.4561-1638= XM_005248280.4:c.4561-1631_4561-1630del XM_005248280.4:c.4561-1630del XM_005248280.4:c.4561-1630dup XM_005248280.4:c.4561-1631_4561-1630dup XM_005248280.4:c.4561-1632_4561-1630dup XM_005248280.4:c.4561-1634_4561-1630dup
NIPBL transcript variant X2 XM_005248281.1:c.4201-1638= XM_005248281.1:c.4201-1631_4201-1630del XM_005248281.1:c.4201-1630del XM_005248281.1:c.4201-1630dup XM_005248281.1:c.4201-1631_4201-1630dup XM_005248281.1:c.4201-1632_4201-1630dup XM_005248281.1:c.4201-1634_4201-1630dup
NIPBL transcript variant X3 XM_005248282.1:c.3901-1638= XM_005248282.1:c.3901-1631_3901-1630del XM_005248282.1:c.3901-1630del XM_005248282.1:c.3901-1630dup XM_005248282.1:c.3901-1631_3901-1630dup XM_005248282.1:c.3901-1632_3901-1630dup XM_005248282.1:c.3901-1634_3901-1630dup
NIPBL transcript variant X5 XM_005248282.6:c.3901-1638= XM_005248282.6:c.3901-1631_3901-1630del XM_005248282.6:c.3901-1630del XM_005248282.6:c.3901-1630dup XM_005248282.6:c.3901-1631_3901-1630dup XM_005248282.6:c.3901-1632_3901-1630dup XM_005248282.6:c.3901-1634_3901-1630dup
NIPBL transcript variant X4 XM_005248283.1:c.2944-1638= XM_005248283.1:c.2944-1631_2944-1630del XM_005248283.1:c.2944-1630del XM_005248283.1:c.2944-1630dup XM_005248283.1:c.2944-1631_2944-1630dup XM_005248283.1:c.2944-1632_2944-1630dup XM_005248283.1:c.2944-1634_2944-1630dup
NIPBL transcript variant X1 XM_006714467.3:c.4561-1638= XM_006714467.3:c.4561-1631_4561-1630del XM_006714467.3:c.4561-1630del XM_006714467.3:c.4561-1630dup XM_006714467.3:c.4561-1631_4561-1630dup XM_006714467.3:c.4561-1632_4561-1630dup XM_006714467.3:c.4561-1634_4561-1630dup
NIPBL transcript variant X2 XM_006714468.3:c.4363-1638= XM_006714468.3:c.4363-1631_4363-1630del XM_006714468.3:c.4363-1630del XM_006714468.3:c.4363-1630dup XM_006714468.3:c.4363-1631_4363-1630dup XM_006714468.3:c.4363-1632_4363-1630dup XM_006714468.3:c.4363-1634_4363-1630dup
NIPBL transcript variant X6 XM_011514015.2:c.4561-1638= XM_011514015.2:c.4561-1631_4561-1630del XM_011514015.2:c.4561-1630del XM_011514015.2:c.4561-1630dup XM_011514015.2:c.4561-1631_4561-1630dup XM_011514015.2:c.4561-1632_4561-1630dup XM_011514015.2:c.4561-1634_4561-1630dup
NIPBL transcript variant X4 XM_017009329.2:c.4561-1638= XM_017009329.2:c.4561-1631_4561-1630del XM_017009329.2:c.4561-1630del XM_017009329.2:c.4561-1630dup XM_017009329.2:c.4561-1631_4561-1630dup XM_017009329.2:c.4561-1632_4561-1630dup XM_017009329.2:c.4561-1634_4561-1630dup
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#.

36 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSIP ss947140736 Aug 21, 2014 (142)
2 1000GENOMES ss1373674031 Aug 21, 2014 (142)
3 EVA_GENOME_DK ss1576496949 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1704634645 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1704637835 Apr 01, 2015 (144)
6 SWEGEN ss2996749107 Nov 08, 2017 (151)
7 MCHAISSO ss3065025305 Nov 08, 2017 (151)
8 MCHAISSO ss3066012953 Nov 08, 2017 (151)
9 BEROUKHIMLAB ss3644183231 Oct 12, 2018 (152)
10 EVA_DECODE ss3714481001 Jul 13, 2019 (153)
11 EVA_DECODE ss3714481002 Jul 13, 2019 (153)
12 EVA_DECODE ss3714481003 Jul 13, 2019 (153)
13 EVA_DECODE ss3714481004 Jul 13, 2019 (153)
14 ACPOP ss3732263197 Jul 13, 2019 (153)
15 ACPOP ss3732263198 Jul 13, 2019 (153)
16 KHV_HUMAN_GENOMES ss3806477886 Jul 13, 2019 (153)
17 EVA ss3829196299 Apr 26, 2020 (154)
18 EVA ss3843506891 Apr 26, 2020 (154)
19 KRGDB ss3908102761 Apr 26, 2020 (154)
20 KOGIC ss3956442005 Apr 26, 2020 (154)
21 GNOMAD ss4102583540 Apr 26, 2021 (155)
22 GNOMAD ss4102583541 Apr 26, 2021 (155)
23 GNOMAD ss4102583542 Apr 26, 2021 (155)
24 GNOMAD ss4102583544 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5171245092 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5171245093 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5263559888 Oct 17, 2022 (156)
28 1000G_HIGH_COVERAGE ss5263559889 Oct 17, 2022 (156)
29 HUGCELL_USP ss5461827382 Oct 17, 2022 (156)
30 HUGCELL_USP ss5461827383 Oct 17, 2022 (156)
31 TOMMO_GENOMICS ss5707154167 Oct 17, 2022 (156)
32 TOMMO_GENOMICS ss5707154168 Oct 17, 2022 (156)
33 TOMMO_GENOMICS ss5707154169 Oct 17, 2022 (156)
34 YY_MCH ss5806193235 Oct 17, 2022 (156)
35 EVA ss5893755730 Oct 17, 2022 (156)
36 EVA ss5966003674 Oct 17, 2022 (156)
37 1000Genomes NC_000005.9 - 37013147 Oct 12, 2018 (152)
38 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 37013147 Oct 12, 2018 (152)
39 The Danish reference pan genome NC_000005.9 - 37013147 Apr 26, 2020 (154)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 185456406 (NC_000005.10:37013044::C 24888/116868)
Row 185456407 (NC_000005.10:37013044::CC 101/117004)
Row 185456408 (NC_000005.10:37013044::CCC 1/117006)...

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

Submission ignored due to conflicting rows:
Row 185456406 (NC_000005.10:37013044::C 24888/116868)
Row 185456407 (NC_000005.10:37013044::CC 101/117004)
Row 185456408 (NC_000005.10:37013044::CCC 1/117006)...

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

Submission ignored due to conflicting rows:
Row 185456406 (NC_000005.10:37013044::C 24888/116868)
Row 185456407 (NC_000005.10:37013044::CC 101/117004)
Row 185456408 (NC_000005.10:37013044::CCC 1/117006)...

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

Submission ignored due to conflicting rows:
Row 185456406 (NC_000005.10:37013044::C 24888/116868)
Row 185456407 (NC_000005.10:37013044::CC 101/117004)
Row 185456408 (NC_000005.10:37013044::CCC 1/117006)...

- Apr 26, 2021 (155)
44 KOREAN population from KRGDB NC_000005.9 - 37013147 Apr 26, 2020 (154)
45 Korean Genome Project NC_000005.10 - 37013045 Apr 26, 2020 (154)
46 Northern Sweden

Submission ignored due to conflicting rows:
Row 5548062 (NC_000005.9:37013146::C 53/592)
Row 5548063 (NC_000005.9:37013146:C: 6/592)

- Jul 13, 2019 (153)
47 Northern Sweden

Submission ignored due to conflicting rows:
Row 5548062 (NC_000005.9:37013146::C 53/592)
Row 5548063 (NC_000005.9:37013146:C: 6/592)

- Jul 13, 2019 (153)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 29214399 (NC_000005.9:37013146::C 1613/16710)
Row 29214400 (NC_000005.9:37013146:C: 5/16710)

- Apr 26, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 29214399 (NC_000005.9:37013146::C 1613/16710)
Row 29214400 (NC_000005.9:37013146:C: 5/16710)

- Apr 26, 2021 (155)
50 14KJPN

Submission ignored due to conflicting rows:
Row 40991271 (NC_000005.10:37013044::C 2631/28252)
Row 40991272 (NC_000005.10:37013044:C: 5/28252)
Row 40991273 (NC_000005.10:37013044::CC 2/28252)

- Oct 17, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 40991271 (NC_000005.10:37013044::C 2631/28252)
Row 40991272 (NC_000005.10:37013044:C: 5/28252)
Row 40991273 (NC_000005.10:37013044::CC 2/28252)

- Oct 17, 2022 (156)
52 14KJPN

Submission ignored due to conflicting rows:
Row 40991271 (NC_000005.10:37013044::C 2631/28252)
Row 40991272 (NC_000005.10:37013044:C: 5/28252)
Row 40991273 (NC_000005.10:37013044::CC 2/28252)

- Oct 17, 2022 (156)
53 UK 10K study - Twins NC_000005.9 - 37013147 Oct 12, 2018 (152)
54 ALFA NC_000005.10 - 37013045 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
ss3714481004 NC_000005.10:37013044:CC: NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCC

(self)
ss2996749107, ss3644183231, ss3732263198, ss5171245093 NC_000005.9:37013146:C: NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC

(self)
ss4102583544, ss5263559889, ss5461827382, ss5707154168 NC_000005.10:37013044:C: NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC

(self)
ss3714481003 NC_000005.10:37013045:C: NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC

(self)
26252122, 14599809, 989942, 15280155, 14599809, ss947140736, ss1373674031, ss1576496949, ss1704634645, ss1704637835, ss3732263197, ss3829196299, ss3908102761, ss5171245092, ss5966003674 NC_000005.9:37013146::C NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

(self)
12820006, ss3065025305, ss3066012953, ss3806477886, ss3956442005, ss4102583540, ss5263559888, ss5461827383, ss5707154167, ss5806193235, ss5893755730 NC_000005.10:37013044::C NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

(self)
ss3843506891 NC_000005.10:37013045::C NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

(self)
ss3714481002 NC_000005.10:37013046::C NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC

(self)
ss4102583541, ss5707154169 NC_000005.10:37013044::CC NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCC

(self)
ss3714481001 NC_000005.10:37013046::CC NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCC

(self)
ss4102583542 NC_000005.10:37013044::CCC NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCC

(self)
4889275659 NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCCCC

NC_000005.10:37013044:CCCCCCCCC:CC…

NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCCCC

(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 rs529922831

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