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.

rs59524140

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:39480041-39480053 (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)7 / del(A)4 / delAAA / delAA…

del(A)7 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dup(A)8

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.07186 (734/10214, ALFA)
delAA=0.3408 (1489/4369, 1000G)
delAA=0.1938 (747/3854, ALSPAC) (+ 2 more)
delAA=0.1950 (723/3708, TWINSUK)
delAA=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MOBP : Non Coding Transcript 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 10214 AAAAAAAAAAAAA=0.90934 AAAAAA=0.00000, AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.07186, AAAAAAAAAAAA=0.01880, AAAAAAAAAAAAAA=0.00000 0.872029 0.014219 0.113752 32
European Sub 9202 AAAAAAAAAAAAA=0.8995 AAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0797, AAAAAAAAAAAA=0.0209, AAAAAAAAAAAAAA=0.0000 0.857596 0.015848 0.126556 32
African Sub 268 AAAAAAAAAAAAA=1.000 AAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 4 AAAAAAAAAAAAA=1.0 AAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 264 AAAAAAAAAAAAA=1.000 AAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 50 AAAAAAAAAAAAA=1.00 AAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 42 AAAAAAAAAAAAA=1.00 AAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 8 AAAAAAAAAAAAA=1.0 AAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 74 AAAAAAAAAAAAA=1.00 AAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 400 AAAAAAAAAAAAA=1.000 AAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 36 AAAAAAAAAAAAA=1.00 AAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 184 AAAAAAAAAAAAA=0.995 AAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.005, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000 0.98913 0.0 0.01087 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
Allele Frequency Aggregator Total Global 10214 (A)13=0.90934 del(A)7=0.00000, delAAA=0.00000, delAA=0.07186, delA=0.01880, dupA=0.00000
Allele Frequency Aggregator European Sub 9202 (A)13=0.8995 del(A)7=0.0000, delAAA=0.0000, delAA=0.0797, delA=0.0209, dupA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 400 (A)13=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator African Sub 268 (A)13=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator Other Sub 184 (A)13=0.995 del(A)7=0.000, delAAA=0.000, delAA=0.005, delA=0.000, dupA=0.000
Allele Frequency Aggregator Latin American 1 Sub 74 (A)13=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator Asian Sub 50 (A)13=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator South Asian Sub 36 (A)13=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes Global Study-wide 4369 (A)13=0.6592 delAA=0.3408
1000Genomes African Sub 986 (A)13=0.292 delAA=0.708
1000Genomes Europe Sub 933 (A)13=0.800 delAA=0.200
1000Genomes East Asian Sub 928 (A)13=0.739 delAA=0.261
1000Genomes South Asian Sub 908 (A)13=0.720 delAA=0.280
1000Genomes American Sub 614 (A)13=0.824 delAA=0.176
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)13=0.8062 delAA=0.1938
UK 10K study - Twins TWIN COHORT Study-wide 3708 (A)13=0.8050 delAA=0.1950
The Danish reference pan genome Danish Study-wide 40 (A)13=0.70 delAA=0.30
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 3 NC_000003.12:g.39480047_39480053del
GRCh38.p14 chr 3 NC_000003.12:g.39480050_39480053del
GRCh38.p14 chr 3 NC_000003.12:g.39480051_39480053del
GRCh38.p14 chr 3 NC_000003.12:g.39480052_39480053del
GRCh38.p14 chr 3 NC_000003.12:g.39480053del
GRCh38.p14 chr 3 NC_000003.12:g.39480053dup
GRCh38.p14 chr 3 NC_000003.12:g.39480052_39480053dup
GRCh38.p14 chr 3 NC_000003.12:g.39480046_39480053dup
GRCh37.p13 chr 3 NC_000003.11:g.39521538_39521544del
GRCh37.p13 chr 3 NC_000003.11:g.39521541_39521544del
GRCh37.p13 chr 3 NC_000003.11:g.39521542_39521544del
GRCh37.p13 chr 3 NC_000003.11:g.39521543_39521544del
GRCh37.p13 chr 3 NC_000003.11:g.39521544del
GRCh37.p13 chr 3 NC_000003.11:g.39521544dup
GRCh37.p13 chr 3 NC_000003.11:g.39521543_39521544dup
GRCh37.p13 chr 3 NC_000003.11:g.39521537_39521544dup
Gene: MOBP, myelin associated oligodendrocyte basic protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MOBP transcript variant 2 NM_001278323.2:c.-5+12307…

NM_001278323.2:c.-5+12307_-5+12313del

N/A Intron Variant
MOBP transcript variant 1 NM_001278322.2:c.-87_-75= N/A 5 Prime UTR Variant
MOBP transcript variant 3 NM_182935.4:c.-87_-75= N/A 5 Prime UTR Variant
MOBP transcript variant 8 NM_001393704.1:c.-87_-75= N/A 5 Prime UTR Variant
MOBP transcript variant 7 NR_103506.2:n.69_75del N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.72_75del N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.73_75del N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.74_75del N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.75del N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.75dup N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.74_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 7 NR_103506.2:n.68_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.69_75del N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.72_75del N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.73_75del N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.74_75del N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.75del N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.75dup N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.74_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 4 NR_003090.3:n.68_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.69_75del N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.72_75del N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.73_75del N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.74_75del N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.75del N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.75dup N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.74_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 5 NR_103504.2:n.68_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.69_75del N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.72_75del N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.73_75del N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.74_75del N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.75del N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.75dup N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.74_75dup N/A Non Coding Transcript Variant
MOBP transcript variant 6 NR_103505.2:n.68_75dup N/A Non Coding Transcript 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)13= del(A)7 del(A)4 delAAA delAA delA dupA dupAA dup(A)8
GRCh38.p14 chr 3 NC_000003.12:g.39480041_39480053= NC_000003.12:g.39480047_39480053del NC_000003.12:g.39480050_39480053del NC_000003.12:g.39480051_39480053del NC_000003.12:g.39480052_39480053del NC_000003.12:g.39480053del NC_000003.12:g.39480053dup NC_000003.12:g.39480052_39480053dup NC_000003.12:g.39480046_39480053dup
GRCh37.p13 chr 3 NC_000003.11:g.39521532_39521544= NC_000003.11:g.39521538_39521544del NC_000003.11:g.39521541_39521544del NC_000003.11:g.39521542_39521544del NC_000003.11:g.39521543_39521544del NC_000003.11:g.39521544del NC_000003.11:g.39521544dup NC_000003.11:g.39521543_39521544dup NC_000003.11:g.39521537_39521544dup
MOBP transcript variant 3 NM_182935.4:c.-87_-75= NM_182935.4:c.-81_-75del NM_182935.4:c.-78_-75del NM_182935.4:c.-77_-75del NM_182935.4:c.-76_-75del NM_182935.4:c.-75del NM_182935.4:c.-75dup NM_182935.4:c.-76_-75dup NM_182935.4:c.-82_-75dup
MOBP transcript variant 3 NM_182935.3:c.-87_-75= NM_182935.3:c.-81_-75del NM_182935.3:c.-78_-75del NM_182935.3:c.-77_-75del NM_182935.3:c.-76_-75del NM_182935.3:c.-75del NM_182935.3:c.-75dup NM_182935.3:c.-76_-75dup NM_182935.3:c.-82_-75dup
MOBP transcript variant 4 NR_003090.3:n.63_75= NR_003090.3:n.69_75del NR_003090.3:n.72_75del NR_003090.3:n.73_75del NR_003090.3:n.74_75del NR_003090.3:n.75del NR_003090.3:n.75dup NR_003090.3:n.74_75dup NR_003090.3:n.68_75dup
MOBP transcript variant 4 NR_003090.2:n.170_182= NR_003090.2:n.176_182del NR_003090.2:n.179_182del NR_003090.2:n.180_182del NR_003090.2:n.181_182del NR_003090.2:n.182del NR_003090.2:n.182dup NR_003090.2:n.181_182dup NR_003090.2:n.175_182dup
MOBP transcript variant 6 NR_103505.2:n.63_75= NR_103505.2:n.69_75del NR_103505.2:n.72_75del NR_103505.2:n.73_75del NR_103505.2:n.74_75del NR_103505.2:n.75del NR_103505.2:n.75dup NR_103505.2:n.74_75dup NR_103505.2:n.68_75dup
MOBP transcript variant 6 NR_103505.1:n.170_182= NR_103505.1:n.176_182del NR_103505.1:n.179_182del NR_103505.1:n.180_182del NR_103505.1:n.181_182del NR_103505.1:n.182del NR_103505.1:n.182dup NR_103505.1:n.181_182dup NR_103505.1:n.175_182dup
MOBP transcript variant 5 NR_103504.2:n.63_75= NR_103504.2:n.69_75del NR_103504.2:n.72_75del NR_103504.2:n.73_75del NR_103504.2:n.74_75del NR_103504.2:n.75del NR_103504.2:n.75dup NR_103504.2:n.74_75dup NR_103504.2:n.68_75dup
MOBP transcript variant 5 NR_103504.1:n.170_182= NR_103504.1:n.176_182del NR_103504.1:n.179_182del NR_103504.1:n.180_182del NR_103504.1:n.181_182del NR_103504.1:n.182del NR_103504.1:n.182dup NR_103504.1:n.181_182dup NR_103504.1:n.175_182dup
MOBP transcript variant 1 NM_001278322.2:c.-87_-75= NM_001278322.2:c.-81_-75del NM_001278322.2:c.-78_-75del NM_001278322.2:c.-77_-75del NM_001278322.2:c.-76_-75del NM_001278322.2:c.-75del NM_001278322.2:c.-75dup NM_001278322.2:c.-76_-75dup NM_001278322.2:c.-82_-75dup
MOBP transcript variant 1 NM_001278322.1:c.-87_-75= NM_001278322.1:c.-81_-75del NM_001278322.1:c.-78_-75del NM_001278322.1:c.-77_-75del NM_001278322.1:c.-76_-75del NM_001278322.1:c.-75del NM_001278322.1:c.-75dup NM_001278322.1:c.-76_-75dup NM_001278322.1:c.-82_-75dup
MOBP transcript variant 7 NR_103506.2:n.63_75= NR_103506.2:n.69_75del NR_103506.2:n.72_75del NR_103506.2:n.73_75del NR_103506.2:n.74_75del NR_103506.2:n.75del NR_103506.2:n.75dup NR_103506.2:n.74_75dup NR_103506.2:n.68_75dup
MOBP transcript variant 7 NR_103506.1:n.170_182= NR_103506.1:n.176_182del NR_103506.1:n.179_182del NR_103506.1:n.180_182del NR_103506.1:n.181_182del NR_103506.1:n.182del NR_103506.1:n.182dup NR_103506.1:n.181_182dup NR_103506.1:n.175_182dup
MOBP transcript variant 8 NM_001393704.1:c.-87_-75= NM_001393704.1:c.-81_-75del NM_001393704.1:c.-78_-75del NM_001393704.1:c.-77_-75del NM_001393704.1:c.-76_-75del NM_001393704.1:c.-75del NM_001393704.1:c.-75dup NM_001393704.1:c.-76_-75dup NM_001393704.1:c.-82_-75dup
MOBP transcript variant 2 NM_001278323.2:c.-5+12301= NM_001278323.2:c.-5+12307_-5+12313del NM_001278323.2:c.-5+12310_-5+12313del NM_001278323.2:c.-5+12311_-5+12313del NM_001278323.2:c.-5+12312_-5+12313del NM_001278323.2:c.-5+12313del NM_001278323.2:c.-5+12313dup NM_001278323.2:c.-5+12312_-5+12313dup NM_001278323.2:c.-5+12306_-5+12313dup
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#.

53 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82119119 Sep 08, 2015 (146)
2 BUSHMAN ss193667389 Mar 15, 2016 (147)
3 GMI ss288346008 May 04, 2012 (137)
4 GMI ss288346010 May 04, 2012 (137)
5 SSMP ss663407164 Apr 01, 2015 (144)
6 1000GENOMES ss1370236185 Aug 21, 2014 (142)
7 1000GENOMES ss1370236188 Aug 21, 2014 (142)
8 EVA_GENOME_DK ss1575922066 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1703591731 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1703591732 Apr 01, 2015 (144)
11 SWEGEN ss2992164062 Nov 08, 2017 (151)
12 EVA_DECODE ss3709051361 Jul 13, 2019 (153)
13 EVA_DECODE ss3709051362 Jul 13, 2019 (153)
14 EVA_DECODE ss3709051363 Jul 13, 2019 (153)
15 EVA_DECODE ss3709051364 Jul 13, 2019 (153)
16 ACPOP ss3729812967 Jul 13, 2019 (153)
17 ACPOP ss3729812968 Jul 13, 2019 (153)
18 PACBIO ss3784289288 Jul 13, 2019 (153)
19 PACBIO ss3789809844 Jul 13, 2019 (153)
20 PACBIO ss3794683659 Jul 13, 2019 (153)
21 KHV_HUMAN_GENOMES ss3803066092 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3803066093 Jul 13, 2019 (153)
23 EVA ss3827766492 Apr 25, 2020 (154)
24 KOGIC ss3951063877 Apr 25, 2020 (154)
25 KOGIC ss3951063878 Apr 25, 2020 (154)
26 KOGIC ss3951063879 Apr 25, 2020 (154)
27 FSA-LAB ss3984247050 Apr 26, 2021 (155)
28 FSA-LAB ss3984247051 Apr 26, 2021 (155)
29 EVA ss3986022679 Apr 26, 2021 (155)
30 GNOMAD ss4069420517 Apr 26, 2021 (155)
31 GNOMAD ss4069420518 Apr 26, 2021 (155)
32 GNOMAD ss4069420519 Apr 26, 2021 (155)
33 GNOMAD ss4069420520 Apr 26, 2021 (155)
34 GNOMAD ss4069420521 Apr 26, 2021 (155)
35 GNOMAD ss4069420522 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5158728271 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5158728272 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5158728273 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5158728274 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5253768266 Oct 13, 2022 (156)
41 1000G_HIGH_COVERAGE ss5253768267 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5253768268 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5253768269 Oct 13, 2022 (156)
44 HUGCELL_USP ss5453195268 Oct 13, 2022 (156)
45 HUGCELL_USP ss5453195269 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5690256200 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5690256201 Oct 13, 2022 (156)
48 TOMMO_GENOMICS ss5690256202 Oct 13, 2022 (156)
49 TOMMO_GENOMICS ss5690256203 Oct 13, 2022 (156)
50 EVA ss5825631215 Oct 13, 2022 (156)
51 TMC_SNPDB2 ss5846914369 Oct 13, 2022 (156)
52 EVA ss5853578223 Oct 13, 2022 (156)
53 EVA ss5960241040 Oct 13, 2022 (156)
54 1000Genomes NC_000003.11 - 39521532 Oct 12, 2018 (152)
55 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 39521532 Oct 12, 2018 (152)
56 The Danish reference pan genome NC_000003.11 - 39521532 Apr 25, 2020 (154)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

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

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

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

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

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

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

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

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

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

Submission ignored due to conflicting rows:
Row 105040899 (NC_000003.12:39480040::A 39/129998)
Row 105040900 (NC_000003.12:39480040::AA 1/130034)
Row 105040901 (NC_000003.12:39480040::AAAAAAAA 1/130036)...

- Apr 26, 2021 (155)
63 Korean Genome Project

Submission ignored due to conflicting rows:
Row 7441878 (NC_000003.12:39480040:AA: 281/1832)
Row 7441879 (NC_000003.12:39480041:A: 167/1832)
Row 7441880 (NC_000003.12:39480042::A 34/1832)

- Apr 25, 2020 (154)
64 Korean Genome Project

Submission ignored due to conflicting rows:
Row 7441878 (NC_000003.12:39480040:AA: 281/1832)
Row 7441879 (NC_000003.12:39480041:A: 167/1832)
Row 7441880 (NC_000003.12:39480042::A 34/1832)

- Apr 25, 2020 (154)
65 Korean Genome Project

Submission ignored due to conflicting rows:
Row 7441878 (NC_000003.12:39480040:AA: 281/1832)
Row 7441879 (NC_000003.12:39480041:A: 167/1832)
Row 7441880 (NC_000003.12:39480042::A 34/1832)

- Apr 25, 2020 (154)
66 Northern Sweden

Submission ignored due to conflicting rows:
Row 3097832 (NC_000003.11:39521531:AA: 81/592)
Row 3097833 (NC_000003.11:39521531:A: 14/592)

- Jul 13, 2019 (153)
67 Northern Sweden

Submission ignored due to conflicting rows:
Row 3097832 (NC_000003.11:39521531:AA: 81/592)
Row 3097833 (NC_000003.11:39521531:A: 14/592)

- Jul 13, 2019 (153)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 16697578 (NC_000003.11:39521531:AA: 3530/16760)
Row 16697579 (NC_000003.11:39521531:AAA: 7/16760)
Row 16697580 (NC_000003.11:39521531:A: 725/16760)...

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 16697578 (NC_000003.11:39521531:AA: 3530/16760)
Row 16697579 (NC_000003.11:39521531:AAA: 7/16760)
Row 16697580 (NC_000003.11:39521531:A: 725/16760)...

- Apr 26, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 16697578 (NC_000003.11:39521531:AA: 3530/16760)
Row 16697579 (NC_000003.11:39521531:AAA: 7/16760)
Row 16697580 (NC_000003.11:39521531:A: 725/16760)...

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 16697578 (NC_000003.11:39521531:AA: 3530/16760)
Row 16697579 (NC_000003.11:39521531:AAA: 7/16760)
Row 16697580 (NC_000003.11:39521531:A: 725/16760)...

- Apr 26, 2021 (155)
72 14KJPN

Submission ignored due to conflicting rows:
Row 24093304 (NC_000003.12:39480040:AA: 5979/28258)
Row 24093305 (NC_000003.12:39480040:A: 1232/28258)
Row 24093306 (NC_000003.12:39480040:AAA: 12/28258)...

- Oct 13, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 24093304 (NC_000003.12:39480040:AA: 5979/28258)
Row 24093305 (NC_000003.12:39480040:A: 1232/28258)
Row 24093306 (NC_000003.12:39480040:AAA: 12/28258)...

- Oct 13, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 24093304 (NC_000003.12:39480040:AA: 5979/28258)
Row 24093305 (NC_000003.12:39480040:A: 1232/28258)
Row 24093306 (NC_000003.12:39480040:AAA: 12/28258)...

- Oct 13, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 24093304 (NC_000003.12:39480040:AA: 5979/28258)
Row 24093305 (NC_000003.12:39480040:A: 1232/28258)
Row 24093306 (NC_000003.12:39480040:AAA: 12/28258)...

- Oct 13, 2022 (156)
76 UK 10K study - Twins NC_000003.11 - 39521532 Oct 12, 2018 (152)
77 ALFA NC_000003.12 - 39480041 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)
rs72362654 May 11, 2012 (137)
rs72446151 May 11, 2012 (137)
rs112679352 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3561410958 NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAA

NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAA

(self)
ss5846914369 NC_000003.12:39480040:AAAA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAA

ss3984247050, ss5158728272 NC_000003.11:39521531:AAA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3709051364, ss4069420522, ss5253768269, ss5690256202 NC_000003.12:39480040:AAA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAA

(self)
3561410958 NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAA

NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss288346010 NC_000003.10:39496535:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
14810031, 8230473, 819881, 8230473, ss663407164, ss1370236185, ss1575922066, ss1703591731, ss1703591732, ss2992164062, ss3729812967, ss3784289288, ss3789809844, ss3794683659, ss3827766492, ss3986022679, ss5158728271, ss5825631215, ss5960241040 NC_000003.11:39521531:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3984247051 NC_000003.11:39521532:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3803066093, ss3951063877, ss4069420521, ss5253768266, ss5453195268, ss5690256200, ss5853578223 NC_000003.12:39480040:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
3561410958 NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3709051363 NC_000003.12:39480041:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss193667389 NT_022517.18:39461531:AA: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss82119119 NC_000003.9:39496547:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss288346008 NC_000003.10:39496535:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3729812968, ss5158728273 NC_000003.11:39521531:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss1370236188 NC_000003.11:39521532:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4069420520, ss5253768267, ss5453195269, ss5690256201 NC_000003.12:39480040:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
3561410958 NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3803066092, ss3951063878 NC_000003.12:39480041:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3709051362 NC_000003.12:39480042:A: NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss5158728274 NC_000003.11:39521531::A NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4069420517, ss5253768268, ss5690256203 NC_000003.12:39480040::A NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
3561410958 NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3951063879 NC_000003.12:39480042::A NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3709051361 NC_000003.12:39480043::A NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4069420518 NC_000003.12:39480040::AA NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4069420519 NC_000003.12:39480040::AAAAAAAA NC_000003.12:39480040:AAAAAAAAAAAA…

NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(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 rs59524140

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