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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.

rs1203809736

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:63809007-63809018 (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 / delAA / delA /…

del(A)7 / del(A)4 / delAA / delA / dupA / dupAA / dupAAA / dup(A)5 / dup(A)7

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.000004 (1/264690, TOPMED)
del(A)7=0.00000 (0/11568, ALFA)
del(A)4=0.00000 (0/11568, ALFA) (+ 6 more)
delAA=0.00000 (0/11568, ALFA)
delA=0.00000 (0/11568, ALFA)
dupA=0.00000 (0/11568, ALFA)
dupAA=0.00000 (0/11568, ALFA)
dupAAA=0.00000 (0/11568, ALFA)
dupA=0.0126 (23/1822, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZBTB46 : Intron Variant
ZBTB46-AS1 : 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 11568 AAAAAAAAAAAA=1.00000 AAAAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 7514 AAAAAAAAAAAA=1.0000 AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2658 AAAAAAAAAAAA=1.0000 AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 104 AAAAAAAAAAAA=1.000 AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African American Sub 2554 AAAAAAAAAAAA=1.0000 AAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AAAAAAAAAAAA=1.000 AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AAAAAAAAAAAA=1.00 AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAA=1.00 AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 142 AAAAAAAAAAAA=1.000 AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 606 AAAAAAAAAAAA=1.000 AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 90 AAAAAAAAAAAA=1.00 AAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 450 AAAAAAAAAAAA=1.000 AAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=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
TopMed Global Study-wide 264690 -

No frequency provided

dupAA=0.000004
Allele Frequency Aggregator Total Global 11568 (A)12=1.00000 del(A)7=0.00000, del(A)4=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator European Sub 7514 (A)12=1.0000 del(A)7=0.0000, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 2658 (A)12=1.0000 del(A)7=0.0000, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 606 (A)12=1.000 del(A)7=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 450 (A)12=1.000 del(A)7=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 142 (A)12=1.000 del(A)7=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Asian Sub 108 (A)12=1.000 del(A)7=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator South Asian Sub 90 (A)12=1.00 del(A)7=0.00, del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Korean Genome Project KOREAN Study-wide 1822 -

No frequency provided

dupA=0.0126
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 20 NC_000020.11:g.63809012_63809018del
GRCh38.p14 chr 20 NC_000020.11:g.63809015_63809018del
GRCh38.p14 chr 20 NC_000020.11:g.63809017_63809018del
GRCh38.p14 chr 20 NC_000020.11:g.63809018del
GRCh38.p14 chr 20 NC_000020.11:g.63809018dup
GRCh38.p14 chr 20 NC_000020.11:g.63809017_63809018dup
GRCh38.p14 chr 20 NC_000020.11:g.63809016_63809018dup
GRCh38.p14 chr 20 NC_000020.11:g.63809014_63809018dup
GRCh38.p14 chr 20 NC_000020.11:g.63809012_63809018dup
GRCh37.p13 chr 20 NC_000020.10:g.62440365_62440371del
GRCh37.p13 chr 20 NC_000020.10:g.62440368_62440371del
GRCh37.p13 chr 20 NC_000020.10:g.62440370_62440371del
GRCh37.p13 chr 20 NC_000020.10:g.62440371del
GRCh37.p13 chr 20 NC_000020.10:g.62440371dup
GRCh37.p13 chr 20 NC_000020.10:g.62440370_62440371dup
GRCh37.p13 chr 20 NC_000020.10:g.62440369_62440371dup
GRCh37.p13 chr 20 NC_000020.10:g.62440367_62440371dup
GRCh37.p13 chr 20 NC_000020.10:g.62440365_62440371dup
Gene: ZBTB46, zinc finger and BTB domain containing 46 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZBTB46 transcript variant 1 NM_001369741.1:c.-33-1822…

NM_001369741.1:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant 2 NM_025224.4:c. N/A Genic Upstream Transcript Variant
ZBTB46 transcript variant X2 XM_005260197.5:c.-33-1822…

XM_005260197.5:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X5 XM_005260198.5:c.-33-1822…

XM_005260198.5:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X4 XM_006723700.4:c.-33-1822…

XM_006723700.4:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X1 XM_011528548.3:c.-33-1822…

XM_011528548.3:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X10 XM_011528549.3:c.-33-1822…

XM_011528549.3:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X9 XM_017027667.2:c.-33-1822…

XM_017027667.2:c.-33-18223_-33-18217del

N/A Intron Variant
ZBTB46 transcript variant X7 XM_047439901.1:c.-34+1510…

XM_047439901.1:c.-34+15106_-34+15112del

N/A Intron Variant
ZBTB46 transcript variant X6 XM_005260195.5:c. N/A Genic Upstream Transcript Variant
ZBTB46 transcript variant X8 XR_001754167.2:n. N/A Intron Variant
ZBTB46 transcript variant X3 XR_936500.3:n. N/A Intron Variant
Gene: ZBTB46-AS1, ZBTB46 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZBTB46-AS1 transcript NR_110081.1:n. 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)12= del(A)7 del(A)4 delAA delA dupA dupAA dupAAA dup(A)5 dup(A)7
GRCh38.p14 chr 20 NC_000020.11:g.63809007_63809018= NC_000020.11:g.63809012_63809018del NC_000020.11:g.63809015_63809018del NC_000020.11:g.63809017_63809018del NC_000020.11:g.63809018del NC_000020.11:g.63809018dup NC_000020.11:g.63809017_63809018dup NC_000020.11:g.63809016_63809018dup NC_000020.11:g.63809014_63809018dup NC_000020.11:g.63809012_63809018dup
GRCh37.p13 chr 20 NC_000020.10:g.62440360_62440371= NC_000020.10:g.62440365_62440371del NC_000020.10:g.62440368_62440371del NC_000020.10:g.62440370_62440371del NC_000020.10:g.62440371del NC_000020.10:g.62440371dup NC_000020.10:g.62440370_62440371dup NC_000020.10:g.62440369_62440371dup NC_000020.10:g.62440367_62440371dup NC_000020.10:g.62440365_62440371dup
ZBTB46 transcript variant 1 NM_001369741.1:c.-33-18217= NM_001369741.1:c.-33-18223_-33-18217del NM_001369741.1:c.-33-18220_-33-18217del NM_001369741.1:c.-33-18218_-33-18217del NM_001369741.1:c.-33-18217del NM_001369741.1:c.-33-18217dup NM_001369741.1:c.-33-18218_-33-18217dup NM_001369741.1:c.-33-18219_-33-18217dup NM_001369741.1:c.-33-18221_-33-18217dup NM_001369741.1:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X2 XM_005260196.1:c.-33-18217= XM_005260196.1:c.-33-18223_-33-18217del XM_005260196.1:c.-33-18220_-33-18217del XM_005260196.1:c.-33-18218_-33-18217del XM_005260196.1:c.-33-18217del XM_005260196.1:c.-33-18217dup XM_005260196.1:c.-33-18218_-33-18217dup XM_005260196.1:c.-33-18219_-33-18217dup XM_005260196.1:c.-33-18221_-33-18217dup XM_005260196.1:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X3 XM_005260197.1:c.-33-18217= XM_005260197.1:c.-33-18223_-33-18217del XM_005260197.1:c.-33-18220_-33-18217del XM_005260197.1:c.-33-18218_-33-18217del XM_005260197.1:c.-33-18217del XM_005260197.1:c.-33-18217dup XM_005260197.1:c.-33-18218_-33-18217dup XM_005260197.1:c.-33-18219_-33-18217dup XM_005260197.1:c.-33-18221_-33-18217dup XM_005260197.1:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X2 XM_005260197.5:c.-33-18217= XM_005260197.5:c.-33-18223_-33-18217del XM_005260197.5:c.-33-18220_-33-18217del XM_005260197.5:c.-33-18218_-33-18217del XM_005260197.5:c.-33-18217del XM_005260197.5:c.-33-18217dup XM_005260197.5:c.-33-18218_-33-18217dup XM_005260197.5:c.-33-18219_-33-18217dup XM_005260197.5:c.-33-18221_-33-18217dup XM_005260197.5:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X4 XM_005260198.1:c.-33-18217= XM_005260198.1:c.-33-18223_-33-18217del XM_005260198.1:c.-33-18220_-33-18217del XM_005260198.1:c.-33-18218_-33-18217del XM_005260198.1:c.-33-18217del XM_005260198.1:c.-33-18217dup XM_005260198.1:c.-33-18218_-33-18217dup XM_005260198.1:c.-33-18219_-33-18217dup XM_005260198.1:c.-33-18221_-33-18217dup XM_005260198.1:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X5 XM_005260198.5:c.-33-18217= XM_005260198.5:c.-33-18223_-33-18217del XM_005260198.5:c.-33-18220_-33-18217del XM_005260198.5:c.-33-18218_-33-18217del XM_005260198.5:c.-33-18217del XM_005260198.5:c.-33-18217dup XM_005260198.5:c.-33-18218_-33-18217dup XM_005260198.5:c.-33-18219_-33-18217dup XM_005260198.5:c.-33-18221_-33-18217dup XM_005260198.5:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X4 XM_006723700.4:c.-33-18217= XM_006723700.4:c.-33-18223_-33-18217del XM_006723700.4:c.-33-18220_-33-18217del XM_006723700.4:c.-33-18218_-33-18217del XM_006723700.4:c.-33-18217del XM_006723700.4:c.-33-18217dup XM_006723700.4:c.-33-18218_-33-18217dup XM_006723700.4:c.-33-18219_-33-18217dup XM_006723700.4:c.-33-18221_-33-18217dup XM_006723700.4:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X1 XM_011528548.3:c.-33-18217= XM_011528548.3:c.-33-18223_-33-18217del XM_011528548.3:c.-33-18220_-33-18217del XM_011528548.3:c.-33-18218_-33-18217del XM_011528548.3:c.-33-18217del XM_011528548.3:c.-33-18217dup XM_011528548.3:c.-33-18218_-33-18217dup XM_011528548.3:c.-33-18219_-33-18217dup XM_011528548.3:c.-33-18221_-33-18217dup XM_011528548.3:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X10 XM_011528549.3:c.-33-18217= XM_011528549.3:c.-33-18223_-33-18217del XM_011528549.3:c.-33-18220_-33-18217del XM_011528549.3:c.-33-18218_-33-18217del XM_011528549.3:c.-33-18217del XM_011528549.3:c.-33-18217dup XM_011528549.3:c.-33-18218_-33-18217dup XM_011528549.3:c.-33-18219_-33-18217dup XM_011528549.3:c.-33-18221_-33-18217dup XM_011528549.3:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X9 XM_017027667.2:c.-33-18217= XM_017027667.2:c.-33-18223_-33-18217del XM_017027667.2:c.-33-18220_-33-18217del XM_017027667.2:c.-33-18218_-33-18217del XM_017027667.2:c.-33-18217del XM_017027667.2:c.-33-18217dup XM_017027667.2:c.-33-18218_-33-18217dup XM_017027667.2:c.-33-18219_-33-18217dup XM_017027667.2:c.-33-18221_-33-18217dup XM_017027667.2:c.-33-18223_-33-18217dup
ZBTB46 transcript variant X7 XM_047439901.1:c.-34+15112= XM_047439901.1:c.-34+15106_-34+15112del XM_047439901.1:c.-34+15109_-34+15112del XM_047439901.1:c.-34+15111_-34+15112del XM_047439901.1:c.-34+15112del XM_047439901.1:c.-34+15112dup XM_047439901.1:c.-34+15111_-34+15112dup XM_047439901.1:c.-34+15110_-34+15112dup XM_047439901.1:c.-34+15108_-34+15112dup XM_047439901.1:c.-34+15106_-34+15112dup
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#.

20 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 MCHAISSO ss3065827636 Nov 08, 2017 (151)
2 PACBIO ss3788696700 Jul 13, 2019 (153)
3 EVA ss3835766942 Apr 27, 2020 (154)
4 KOGIC ss3982649649 Apr 27, 2020 (154)
5 GNOMAD ss4356507766 Apr 27, 2021 (155)
6 GNOMAD ss4356507767 Apr 27, 2021 (155)
7 GNOMAD ss4356507768 Apr 27, 2021 (155)
8 GNOMAD ss4356507769 Apr 27, 2021 (155)
9 GNOMAD ss4356507770 Apr 27, 2021 (155)
10 GNOMAD ss4356507771 Apr 27, 2021 (155)
11 GNOMAD ss4356507772 Apr 27, 2021 (155)
12 TOPMED ss5094802463 Apr 27, 2021 (155)
13 TOMMO_GENOMICS ss5230484697 Apr 27, 2021 (155)
14 TOMMO_GENOMICS ss5230484698 Apr 27, 2021 (155)
15 1000G_HIGH_COVERAGE ss5309448866 Oct 16, 2022 (156)
16 1000G_HIGH_COVERAGE ss5309448867 Oct 16, 2022 (156)
17 HUGCELL_USP ss5501662931 Oct 16, 2022 (156)
18 HUGCELL_USP ss5501662932 Oct 16, 2022 (156)
19 TOMMO_GENOMICS ss5790554036 Oct 16, 2022 (156)
20 TOMMO_GENOMICS ss5790554037 Oct 16, 2022 (156)
21 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
22 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
23 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
24 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
25 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
26 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
27 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 557052764 (NC_000020.11:63809006::A 306/112852)
Row 557052765 (NC_000020.11:63809006::AAAAA 3/112906)
Row 557052766 (NC_000020.11:63809006::AAAAAAA 1/112904)...

- Apr 27, 2021 (155)
28 Korean Genome Project NC_000020.11 - 63809007 Apr 27, 2020 (154)
29 8.3KJPN

Submission ignored due to conflicting rows:
Row 88454004 (NC_000020.10:62440359:A: 21/16750)
Row 88454005 (NC_000020.10:62440359::A 2/16750)

- Apr 27, 2021 (155)
30 8.3KJPN

Submission ignored due to conflicting rows:
Row 88454004 (NC_000020.10:62440359:A: 21/16750)
Row 88454005 (NC_000020.10:62440359::A 2/16750)

- Apr 27, 2021 (155)
31 14KJPN

Submission ignored due to conflicting rows:
Row 124391140 (NC_000020.11:63809006:A: 23/25264)
Row 124391141 (NC_000020.11:63809006::A 2/25264)

- Oct 16, 2022 (156)
32 14KJPN

Submission ignored due to conflicting rows:
Row 124391140 (NC_000020.11:63809006:A: 23/25264)
Row 124391141 (NC_000020.11:63809006::A 2/25264)

- Oct 16, 2022 (156)
33 TopMed NC_000020.11 - 63809007 Apr 27, 2021 (155)
34 ALFA NC_000020.11 - 63809007 Apr 27, 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
ss4356507772 NC_000020.11:63809006:AAAAAAA: NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAA

(self)
ss4356507771 NC_000020.11:63809006:AAAA: NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAA

(self)
ss4356507770 NC_000020.11:63809006:AA: NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3788696700, ss5230484697 NC_000020.10:62440359:A: NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3065827636, ss4356507769, ss5309448866, ss5501662932, ss5790554036 NC_000020.11:63809006:A: NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3835766942, ss5230484698 NC_000020.10:62440359::A NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
39027650, ss3982649649, ss4356507766, ss5309448867, ss5501662931, ss5790554037 NC_000020.11:63809006::A NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
369911408, ss5094802463 NC_000020.11:63809006::AA NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5211091797 NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4356507767 NC_000020.11:63809006::AAAAA NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4356507768 NC_000020.11:63809006::AAAAAAA NC_000020.11:63809006:AAAAAAAAAAAA…

NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(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 rs1203809736

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