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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.

rs754107339

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:72035955-72035961 (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
delACAG
Variation Type
Indel Insertion and Deletion
Frequency
delACAG=0.000011 (3/264690, TOPMED)
delACAG=0.000016 (4/251188, GnomAD_exome)
delACAG=0.000014 (2/140026, GnomAD) (+ 3 more)
delACAG=0.000017 (2/121102, ExAC)
delACAG=0.00000 (0/14050, ALFA)
delACAG=0.00016 (2/12518, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUMA1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 CAGACAG=1.00000 CAG=0.00000
European Sub 9690 CAGACAG=1.0000 CAG=0.0000
African Sub 2898 CAGACAG=1.0000 CAG=0.0000
African Others Sub 114 CAGACAG=1.000 CAG=0.000
African American Sub 2784 CAGACAG=1.0000 CAG=0.0000
Asian Sub 112 CAGACAG=1.000 CAG=0.000
East Asian Sub 86 CAGACAG=1.00 CAG=0.00
Other Asian Sub 26 CAGACAG=1.00 CAG=0.00
Latin American 1 Sub 146 CAGACAG=1.000 CAG=0.000
Latin American 2 Sub 610 CAGACAG=1.000 CAG=0.000
South Asian Sub 98 CAGACAG=1.00 CAG=0.00
Other Sub 496 CAGACAG=1.000 CAG=0.000


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 CAGACAG=0.999989 delACAG=0.000011
gnomAD - Exomes Global Study-wide 251188 CAGACAG=0.999984 delACAG=0.000016
gnomAD - Exomes European Sub 135170 CAGACAG=0.999985 delACAG=0.000015
gnomAD - Exomes Asian Sub 48994 CAGACAG=0.99998 delACAG=0.00002
gnomAD - Exomes American Sub 34582 CAGACAG=1.00000 delACAG=0.00000
gnomAD - Exomes African Sub 16238 CAGACAG=0.99994 delACAG=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10066 CAGACAG=1.00000 delACAG=0.00000
gnomAD - Exomes Other Sub 6138 CAGACAG=1.0000 delACAG=0.0000
gnomAD - Genomes Global Study-wide 140026 CAGACAG=0.999986 delACAG=0.000014
gnomAD - Genomes European Sub 75864 CAGACAG=0.99997 delACAG=0.00003
gnomAD - Genomes African Sub 41940 CAGACAG=1.00000 delACAG=0.00000
gnomAD - Genomes American Sub 13624 CAGACAG=1.00000 delACAG=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 CAGACAG=1.0000 delACAG=0.0000
gnomAD - Genomes East Asian Sub 3130 CAGACAG=1.0000 delACAG=0.0000
gnomAD - Genomes Other Sub 2146 CAGACAG=1.0000 delACAG=0.0000
ExAC Global Study-wide 121102 CAGACAG=0.999983 delACAG=0.000017
ExAC Europe Sub 73194 CAGACAG=0.99997 delACAG=0.00003
ExAC Asian Sub 25122 CAGACAG=1.00000 delACAG=0.00000
ExAC American Sub 11548 CAGACAG=1.00000 delACAG=0.00000
ExAC African Sub 10330 CAGACAG=1.00000 delACAG=0.00000
ExAC Other Sub 908 CAGACAG=1.000 delACAG=0.000
Allele Frequency Aggregator Total Global 14050 CAGACAG=1.00000 delACAG=0.00000
Allele Frequency Aggregator European Sub 9690 CAGACAG=1.0000 delACAG=0.0000
Allele Frequency Aggregator African Sub 2898 CAGACAG=1.0000 delACAG=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CAGACAG=1.000 delACAG=0.000
Allele Frequency Aggregator Other Sub 496 CAGACAG=1.000 delACAG=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CAGACAG=1.000 delACAG=0.000
Allele Frequency Aggregator Asian Sub 112 CAGACAG=1.000 delACAG=0.000
Allele Frequency Aggregator South Asian Sub 98 CAGACAG=1.00 delACAG=0.00
GO Exome Sequencing Project Global Study-wide 12518 CAGACAG=0.99984 delACAG=0.00016
GO Exome Sequencing Project European American Sub 8254 CAGACAG=0.9998 delACAG=0.0002
GO Exome Sequencing Project African American Sub 4264 CAGACAG=1.0000 delACAG=0.0000
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 11 NC_000011.10:g.72035958_72035961del
GRCh37.p13 chr 11 NC_000011.9:g.71747004_71747007del
Gene: NUMA1, nuclear mitotic apparatus protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NUMA1 transcript variant 1 NM_006185.4:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant 2 NM_001286561.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant 3 NR_104476.2:n.311_314del N/A Non Coding Transcript Variant
NUMA1 transcript variant X8 XM_011545063.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X1 XM_011545054.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X2 XM_011545055.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X3 XM_024448555.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X4 XM_011545057.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X5 XM_011545060.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X6 XM_011545056.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X7 XM_011545058.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X9 XM_047426995.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X10 XM_011545059.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X11 XM_011545062.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X12 XM_011545064.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X13 XM_047426996.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X14 XM_011545065.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X15 XM_047426997.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X16 XM_047426998.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X17 XM_047426999.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X18 XM_047427000.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X19 XM_047427001.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X20 XM_047427002.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X21 XM_047427003.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X22 XM_047427004.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X23 XM_047427005.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X24 XM_047427006.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X25 XM_047427007.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X26 XM_006718564.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X27 XM_024448556.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X28 XM_047427008.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X29 XM_047427009.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X30 XM_047427010.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X31 XM_047427011.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X32 XM_047427012.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X33 XM_047427013.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X34 XM_047427014.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X35 XM_047427015.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X36 XM_047427016.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X37 XM_047427017.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X38 XM_017017830.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X39 XM_011545066.3:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X40 XM_047427018.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X41 XM_047427019.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X42 XM_047427020.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X43 XM_047427021.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X44 XM_047427022.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X45 XM_047427023.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X46 XM_017017831.2:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X47 XM_047427024.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X48 XM_047427025.1:c.-18_-12= N/A 5 Prime UTR Variant
NUMA1 transcript variant X49 XM_047427026.1:c.-18_-12= N/A 5 Prime UTR 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 CAGACAG= delACAG
GRCh38.p14 chr 11 NC_000011.10:g.72035955_72035961= NC_000011.10:g.72035958_72035961del
GRCh37.p13 chr 11 NC_000011.9:g.71747001_71747007= NC_000011.9:g.71747004_71747007del
NUMA1 transcript variant 1 NM_006185.4:c.-18_-12= NM_006185.4:c.-15_-12del
NUMA1 transcript variant 1 NM_006185.3:c.-18_-12= NM_006185.3:c.-15_-12del
NUMA1 transcript NM_006185.2:c.-18_-12= NM_006185.2:c.-15_-12del
NUMA1 transcript variant X11 XM_011545062.3:c.-18_-12= XM_011545062.3:c.-15_-12del
NUMA1 transcript variant X10 XM_011545062.2:c.-18_-12= XM_011545062.2:c.-15_-12del
NUMA1 transcript variant X9 XM_011545062.1:c.-18_-12= XM_011545062.1:c.-15_-12del
NUMA1 transcript variant X10 XM_011545059.3:c.-18_-12= XM_011545059.3:c.-15_-12del
NUMA1 transcript variant X7 XM_011545059.2:c.-18_-12= XM_011545059.2:c.-15_-12del
NUMA1 transcript variant X6 XM_011545059.1:c.-18_-12= XM_011545059.1:c.-15_-12del
NUMA1 transcript variant X5 XM_011545060.3:c.-18_-12= XM_011545060.3:c.-15_-12del
NUMA1 transcript variant X9 XM_011545060.2:c.-18_-12= XM_011545060.2:c.-15_-12del
NUMA1 transcript variant X7 XM_011545060.1:c.-18_-12= XM_011545060.1:c.-15_-12del
NUMA1 transcript variant X6 XM_011545056.3:c.-18_-12= XM_011545056.3:c.-15_-12del
NUMA1 transcript variant X3 XM_011545056.2:c.-18_-12= XM_011545056.2:c.-15_-12del
NUMA1 transcript variant X3 XM_011545056.1:c.-18_-12= XM_011545056.1:c.-15_-12del
NUMA1 transcript variant X4 XM_011545057.3:c.-18_-12= XM_011545057.3:c.-15_-12del
NUMA1 transcript variant X4 XM_011545057.2:c.-18_-12= XM_011545057.2:c.-15_-12del
NUMA1 transcript variant X4 XM_011545057.1:c.-18_-12= XM_011545057.1:c.-15_-12del
NUMA1 transcript variant X1 XM_011545054.3:c.-18_-12= XM_011545054.3:c.-15_-12del
NUMA1 transcript variant X1 XM_011545054.2:c.-18_-12= XM_011545054.2:c.-15_-12del
NUMA1 transcript variant X1 XM_011545054.1:c.-18_-12= XM_011545054.1:c.-15_-12del
NUMA1 transcript variant X14 XM_011545065.3:c.-18_-12= XM_011545065.3:c.-15_-12del
NUMA1 transcript variant X13 XM_011545065.2:c.-18_-12= XM_011545065.2:c.-15_-12del
NUMA1 transcript variant X12 XM_011545065.1:c.-18_-12= XM_011545065.1:c.-15_-12del
NUMA1 transcript variant X26 XM_006718564.3:c.-18_-12= XM_006718564.3:c.-15_-12del
NUMA1 transcript variant X14 XM_006718564.2:c.-18_-12= XM_006718564.2:c.-15_-12del
NUMA1 transcript variant X13 XM_006718564.1:c.-18_-12= XM_006718564.1:c.-15_-12del
NUMA1 transcript variant X39 XM_011545066.3:c.-18_-12= XM_011545066.3:c.-15_-12del
NUMA1 transcript variant X16 XM_011545066.2:c.-18_-12= XM_011545066.2:c.-15_-12del
NUMA1 transcript variant X14 XM_011545066.1:c.-18_-12= XM_011545066.1:c.-15_-12del
NUMA1 transcript variant X8 XM_011545063.3:c.-18_-12= XM_011545063.3:c.-15_-12del
NUMA1 transcript variant X10 XM_011545063.2:c.-18_-12= XM_011545063.2:c.-15_-12del
NUMA1 transcript variant X10 XM_011545063.1:c.-18_-12= XM_011545063.1:c.-15_-12del
NUMA1 transcript variant X46 XM_017017831.2:c.-18_-12= XM_017017831.2:c.-15_-12del
NUMA1 transcript variant X18 XM_017017831.1:c.-18_-12= XM_017017831.1:c.-15_-12del
NUMA1 transcript variant X3 XM_024448555.2:c.-18_-12= XM_024448555.2:c.-15_-12del
NUMA1 transcript variant X5 XM_024448555.1:c.-18_-12= XM_024448555.1:c.-15_-12del
NUMA1 transcript variant X27 XM_024448556.2:c.-18_-12= XM_024448556.2:c.-15_-12del
NUMA1 transcript variant X15 XM_024448556.1:c.-18_-12= XM_024448556.1:c.-15_-12del
NUMA1 transcript variant X12 XM_011545064.2:c.-18_-12= XM_011545064.2:c.-15_-12del
NUMA1 transcript variant X12 XM_011545064.1:c.-18_-12= XM_011545064.1:c.-15_-12del
NUMA1 transcript variant 2 NM_001286561.2:c.-18_-12= NM_001286561.2:c.-15_-12del
NUMA1 transcript variant 2 NM_001286561.1:c.-18_-12= NM_001286561.1:c.-15_-12del
NUMA1 transcript variant X2 XM_011545055.2:c.-18_-12= XM_011545055.2:c.-15_-12del
NUMA1 transcript variant X2 XM_011545055.1:c.-18_-12= XM_011545055.1:c.-15_-12del
NUMA1 transcript variant X7 XM_011545058.2:c.-18_-12= XM_011545058.2:c.-15_-12del
NUMA1 transcript variant X6 XM_011545058.1:c.-18_-12= XM_011545058.1:c.-15_-12del
NUMA1 transcript variant X38 XM_017017830.2:c.-18_-12= XM_017017830.2:c.-15_-12del
NUMA1 transcript variant X17 XM_017017830.1:c.-18_-12= XM_017017830.1:c.-15_-12del
NUMA1 transcript variant 3 NR_104476.2:n.308_314= NR_104476.2:n.311_314del
NUMA1 transcript variant 3 NR_104476.1:n.240_246= NR_104476.1:n.243_246del
NUMA1 transcript variant X20 XM_047427002.1:c.-18_-12= XM_047427002.1:c.-15_-12del
NUMA1 transcript variant X24 XM_047427006.1:c.-18_-12= XM_047427006.1:c.-15_-12del
NUMA1 transcript variant X34 XM_047427014.1:c.-18_-12= XM_047427014.1:c.-15_-12del
NUMA1 transcript variant X23 XM_047427005.1:c.-18_-12= XM_047427005.1:c.-15_-12del
NUMA1 transcript variant X18 XM_047427000.1:c.-18_-12= XM_047427000.1:c.-15_-12del
NUMA1 transcript variant X32 XM_047427012.1:c.-18_-12= XM_047427012.1:c.-15_-12del
NUMA1 transcript variant X33 XM_047427013.1:c.-18_-12= XM_047427013.1:c.-15_-12del
NUMA1 transcript variant X44 XM_047427022.1:c.-18_-12= XM_047427022.1:c.-15_-12del
NUMA1 transcript variant X43 XM_047427021.1:c.-18_-12= XM_047427021.1:c.-15_-12del
NUMA1 transcript variant X16 XM_047426998.1:c.-18_-12= XM_047426998.1:c.-15_-12del
NUMA1 transcript variant X22 XM_047427004.1:c.-18_-12= XM_047427004.1:c.-15_-12del
NUMA1 transcript variant X17 XM_047426999.1:c.-18_-12= XM_047426999.1:c.-15_-12del
NUMA1 transcript variant X30 XM_047427010.1:c.-18_-12= XM_047427010.1:c.-15_-12del
NUMA1 transcript variant X28 XM_047427008.1:c.-18_-12= XM_047427008.1:c.-15_-12del
NUMA1 transcript variant X40 XM_047427018.1:c.-18_-12= XM_047427018.1:c.-15_-12del
NUMA1 transcript variant X49 XM_047427026.1:c.-18_-12= XM_047427026.1:c.-15_-12del
NUMA1 transcript variant X41 XM_047427019.1:c.-18_-12= XM_047427019.1:c.-15_-12del
NUMA1 transcript variant X13 XM_047426996.1:c.-18_-12= XM_047426996.1:c.-15_-12del
NUMA1 transcript variant X37 XM_047427017.1:c.-18_-12= XM_047427017.1:c.-15_-12del
NUMA1 transcript variant X29 XM_047427009.1:c.-18_-12= XM_047427009.1:c.-15_-12del
NUMA1 transcript variant X15 XM_047426997.1:c.-18_-12= XM_047426997.1:c.-15_-12del
NUMA1 transcript variant X48 XM_047427025.1:c.-18_-12= XM_047427025.1:c.-15_-12del
NUMA1 transcript variant X19 XM_047427001.1:c.-18_-12= XM_047427001.1:c.-15_-12del
NUMA1 transcript variant X31 XM_047427011.1:c.-18_-12= XM_047427011.1:c.-15_-12del
NUMA1 transcript variant X9 XM_047426995.1:c.-18_-12= XM_047426995.1:c.-15_-12del
NUMA1 transcript variant X42 XM_047427020.1:c.-18_-12= XM_047427020.1:c.-15_-12del
NUMA1 transcript variant X21 XM_047427003.1:c.-18_-12= XM_047427003.1:c.-15_-12del
NUMA1 transcript variant X25 XM_047427007.1:c.-18_-12= XM_047427007.1:c.-15_-12del
NUMA1 transcript variant X36 XM_047427016.1:c.-18_-12= XM_047427016.1:c.-15_-12del
NUMA1 transcript variant X35 XM_047427015.1:c.-18_-12= XM_047427015.1:c.-15_-12del
NUMA1 transcript variant X45 XM_047427023.1:c.-18_-12= XM_047427023.1:c.-15_-12del
NUMA1 transcript variant X47 XM_047427024.1:c.-18_-12= XM_047427024.1:c.-15_-12del
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#.

6 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711981089 Apr 01, 2015 (144)
2 GNOMAD ss2739223167 Nov 08, 2017 (151)
3 GNOMAD ss2748689289 Nov 08, 2017 (151)
4 GNOMAD ss2901246588 Nov 08, 2017 (151)
5 EVA ss3824650449 Apr 26, 2020 (154)
6 TOPMED ss4890045918 Apr 26, 2021 (155)
7 ExAC NC_000011.9 - 71747001 Oct 12, 2018 (152)
8 gnomAD - Genomes NC_000011.10 - 72035955 Apr 26, 2021 (155)
9 gnomAD - Exomes NC_000011.9 - 71747001 Jul 13, 2019 (153)
10 GO Exome Sequencing Project NC_000011.9 - 71747001 Oct 12, 2018 (152)
11 TopMed NC_000011.10 - 72035955 Apr 26, 2021 (155)
12 ALFA NC_000011.10 - 72035955 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
798093, 8439859, 1108015, ss1711981089, ss2739223167, ss2748689289, ss2901246588, ss3824650449 NC_000011.9:71747000:CAGA: NC_000011.10:72035954:CAGACAG:CAG (self)
383766308, 105591574, ss4890045918 NC_000011.10:72035954:CAGA: NC_000011.10:72035954:CAGACAG:CAG (self)
997645423 NC_000011.10:72035954:CAGACAG:CAG NC_000011.10:72035954:CAGACAG:CAG (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 rs754107339

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