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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1483969414

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:50403927 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000007 (1/140296, GnomAD)
C=0.00000 (0/14050, ALFA)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IKZF1 : 3 Prime UTR 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 14050 T=1.00000 C=0.00000, G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 C=0.000, G=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
gnomAD - Genomes Global Study-wide 140296 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75960 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42060 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13664 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9995 C=0.0005
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000, G=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000, G=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00, G=0.00
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 7 NC_000007.14:g.50403927T>C
GRCh38.p14 chr 7 NC_000007.14:g.50403927T>G
GRCh37.p13 chr 7 NC_000007.13:g.50471625T>C
GRCh37.p13 chr 7 NC_000007.13:g.50471625T>G
IKZF1 RefSeqGene (LRG_1121) NG_034231.1:g.104845T>C
IKZF1 RefSeqGene (LRG_1121) NG_034231.1:g.104845T>G
Gene: IKZF1, IKAROS family zinc finger 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IKZF1 transcript variant 4 NM_001220767.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 5 NM_001220768.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 7 NM_001220770.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-6 NM_001291840.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 8 NM_001220771.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-7 NM_001291841.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-7(del) NM_001291842.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-8 NM_001291843.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-8(del) NM_001291844.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 1 NM_006060.6:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-4 NM_001291839.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant Ik-2 NM_001291838.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 2 NM_001220765.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 14 NM_001291837.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant 15 NM_001291845.2:c. N/A Genic Downstream Transcript Variant
IKZF1 transcript variant 16 NM_001291846.2:c. N/A Genic Downstream Transcript Variant
IKZF1 transcript variant 17 NM_001291847.2:c. N/A Genic Downstream Transcript Variant
IKZF1 transcript variant X1 XM_011515058.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X2 XM_011515059.4:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X3 XM_011515060.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X4 XM_011515061.4:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X5 XM_011515065.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X6 XM_011515066.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X6 XM_011515062.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X7 XM_011515064.4:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X8 XM_011515063.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X9 XM_047419723.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X10 XM_047419724.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X11 XM_011515067.4:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X12 XM_047419725.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X13 XM_047419726.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X14 XM_047419727.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X15 XM_047419728.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X16 XM_047419729.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X17 XM_011515070.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X18 XM_047419730.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X19 XM_047419731.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X20 XM_047419732.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X21 XM_047419733.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X22 XM_047419734.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X23 XM_011515071.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X24 XM_047419735.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X25 XM_047419736.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X26 XM_047419738.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X27 XM_047419739.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X28 XM_011515072.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X29 XM_047419740.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X30 XM_011515073.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X31 XM_047419741.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X32 XM_047419742.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X33 XM_047419743.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X34 XM_011515074.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X35 XM_047419744.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X36 XM_017011668.2:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X37 XM_047419745.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X38 XM_047419746.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X39 XM_047419747.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X40 XM_011515077.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X41 XM_047419748.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X42 XM_011515078.3:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X43 XM_047419749.1:c.*3300= N/A 3 Prime UTR Variant
IKZF1 transcript variant X44 XM_047419750.1:c.*3300= N/A 3 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 T= C G
GRCh38.p14 chr 7 NC_000007.14:g.50403927= NC_000007.14:g.50403927T>C NC_000007.14:g.50403927T>G
GRCh37.p13 chr 7 NC_000007.13:g.50471625= NC_000007.13:g.50471625T>C NC_000007.13:g.50471625T>G
IKZF1 RefSeqGene (LRG_1121) NG_034231.1:g.104845= NG_034231.1:g.104845T>C NG_034231.1:g.104845T>G
IKZF1 transcript variant 1 NM_006060.6:c.*3300= NM_006060.6:c.*3300T>C NM_006060.6:c.*3300T>G
IKZF1 transcript variant 1 NM_006060.5:c.*3300= NM_006060.5:c.*3300T>C NM_006060.5:c.*3300T>G
IKZF1 transcript variant 1 NM_006060.4:c.*3300= NM_006060.4:c.*3300T>C NM_006060.4:c.*3300T>G
IKZF1 transcript variant 2 NM_001220765.3:c.*3300= NM_001220765.3:c.*3300T>C NM_001220765.3:c.*3300T>G
IKZF1 transcript variant 2 NM_001220765.2:c.*3300= NM_001220765.2:c.*3300T>C NM_001220765.2:c.*3300T>G
IKZF1 transcript variant 2 NM_001220765.1:c.*3300= NM_001220765.1:c.*3300T>C NM_001220765.1:c.*3300T>G
IKZF1 transcript variant 14 NM_001291837.2:c.*3300= NM_001291837.2:c.*3300T>C NM_001291837.2:c.*3300T>G
IKZF1 transcript variant 14 NM_001291837.1:c.*3300= NM_001291837.1:c.*3300T>C NM_001291837.1:c.*3300T>G
IKZF1 transcript variant Ik-2 NM_001291838.2:c.*3300= NM_001291838.2:c.*3300T>C NM_001291838.2:c.*3300T>G
IKZF1 transcript variant Ik-2 NM_001291838.1:c.*3300= NM_001291838.1:c.*3300T>C NM_001291838.1:c.*3300T>G
IKZF1 transcript variant 5 NM_001220768.2:c.*3300= NM_001220768.2:c.*3300T>C NM_001220768.2:c.*3300T>G
IKZF1 transcript variant 5 NM_001220768.1:c.*3300= NM_001220768.1:c.*3300T>C NM_001220768.1:c.*3300T>G
IKZF1 transcript variant 4 NM_001220767.2:c.*3300= NM_001220767.2:c.*3300T>C NM_001220767.2:c.*3300T>G
IKZF1 transcript variant 4 NM_001220767.1:c.*3300= NM_001220767.1:c.*3300T>C NM_001220767.1:c.*3300T>G
IKZF1 transcript variant Ik-4 NM_001291839.2:c.*3300= NM_001291839.2:c.*3300T>C NM_001291839.2:c.*3300T>G
IKZF1 transcript variant Ik-4 NM_001291839.1:c.*3300= NM_001291839.1:c.*3300T>C NM_001291839.1:c.*3300T>G
IKZF1 transcript variant 7 NM_001220770.2:c.*3300= NM_001220770.2:c.*3300T>C NM_001220770.2:c.*3300T>G
IKZF1 transcript variant 7 NM_001220770.1:c.*3300= NM_001220770.1:c.*3300T>C NM_001220770.1:c.*3300T>G
IKZF1 transcript variant 8 NM_001220771.2:c.*3300= NM_001220771.2:c.*3300T>C NM_001220771.2:c.*3300T>G
IKZF1 transcript variant 8 NM_001220771.1:c.*3300= NM_001220771.1:c.*3300T>C NM_001220771.1:c.*3300T>G
IKZF1 transcript variant 18 NM_001410879.1:c.*3300= NM_001410879.1:c.*3300T>C NM_001410879.1:c.*3300T>G
IKZF1 transcript variant Ik-7 NM_001291841.1:c.*3300= NM_001291841.1:c.*3300T>C NM_001291841.1:c.*3300T>G
IKZF1 transcript variant Ik-7(del) NM_001291842.1:c.*3300= NM_001291842.1:c.*3300T>C NM_001291842.1:c.*3300T>G
IKZF1 transcript variant Ik-8 NM_001291843.1:c.*3300= NM_001291843.1:c.*3300T>C NM_001291843.1:c.*3300T>G
IKZF1 transcript variant Ik-8(del) NM_001291844.1:c.*3300= NM_001291844.1:c.*3300T>C NM_001291844.1:c.*3300T>G
IKZF1 transcript variant Ik-6 NM_001291840.1:c.*3300= NM_001291840.1:c.*3300T>C NM_001291840.1:c.*3300T>G
IKZF1 transcript variant X7 XM_011515064.4:c.*3300= XM_011515064.4:c.*3300T>C XM_011515064.4:c.*3300T>G
IKZF1 transcript variant X7 XM_011515064.3:c.*3300= XM_011515064.3:c.*3300T>C XM_011515064.3:c.*3300T>G
IKZF1 transcript variant X7 XM_011515064.2:c.*3300= XM_011515064.2:c.*3300T>C XM_011515064.2:c.*3300T>G
IKZF1 transcript variant X7 XM_011515064.1:c.*3300= XM_011515064.1:c.*3300T>C XM_011515064.1:c.*3300T>G
IKZF1 transcript variant X2 XM_011515059.4:c.*3300= XM_011515059.4:c.*3300T>C XM_011515059.4:c.*3300T>G
IKZF1 transcript variant X2 XM_011515059.3:c.*3300= XM_011515059.3:c.*3300T>C XM_011515059.3:c.*3300T>G
IKZF1 transcript variant X2 XM_011515059.2:c.*3300= XM_011515059.2:c.*3300T>C XM_011515059.2:c.*3300T>G
IKZF1 transcript variant X2 XM_011515059.1:c.*3300= XM_011515059.1:c.*3300T>C XM_011515059.1:c.*3300T>G
IKZF1 transcript variant X4 XM_011515061.4:c.*3300= XM_011515061.4:c.*3300T>C XM_011515061.4:c.*3300T>G
IKZF1 transcript variant X4 XM_011515061.3:c.*3300= XM_011515061.3:c.*3300T>C XM_011515061.3:c.*3300T>G
IKZF1 transcript variant X4 XM_011515061.2:c.*3300= XM_011515061.2:c.*3300T>C XM_011515061.2:c.*3300T>G
IKZF1 transcript variant X4 XM_011515061.1:c.*3300= XM_011515061.1:c.*3300T>C XM_011515061.1:c.*3300T>G
IKZF1 transcript variant X11 XM_011515067.4:c.*3300= XM_011515067.4:c.*3300T>C XM_011515067.4:c.*3300T>G
IKZF1 transcript variant X10 XM_011515067.3:c.*3300= XM_011515067.3:c.*3300T>C XM_011515067.3:c.*3300T>G
IKZF1 transcript variant X10 XM_011515067.2:c.*3300= XM_011515067.2:c.*3300T>C XM_011515067.2:c.*3300T>G
IKZF1 transcript variant X10 XM_011515067.1:c.*3300= XM_011515067.1:c.*3300T>C XM_011515067.1:c.*3300T>G
IKZF1 transcript variant X6 XM_011515066.3:c.*3300= XM_011515066.3:c.*3300T>C XM_011515066.3:c.*3300T>G
IKZF1 transcript variant X8 XM_011515063.3:c.*3300= XM_011515063.3:c.*3300T>C XM_011515063.3:c.*3300T>G
IKZF1 transcript variant X6 XM_011515063.2:c.*3300= XM_011515063.2:c.*3300T>C XM_011515063.2:c.*3300T>G
IKZF1 transcript variant X6 XM_011515063.1:c.*3300= XM_011515063.1:c.*3300T>C XM_011515063.1:c.*3300T>G
IKZF1 transcript variant X6 XM_011515062.3:c.*3300= XM_011515062.3:c.*3300T>C XM_011515062.3:c.*3300T>G
IKZF1 transcript variant X5 XM_011515062.2:c.*3300= XM_011515062.2:c.*3300T>C XM_011515062.2:c.*3300T>G
IKZF1 transcript variant X5 XM_011515062.1:c.*3300= XM_011515062.1:c.*3300T>C XM_011515062.1:c.*3300T>G
IKZF1 transcript variant X3 XM_011515060.3:c.*3300= XM_011515060.3:c.*3300T>C XM_011515060.3:c.*3300T>G
IKZF1 transcript variant X3 XM_011515060.2:c.*3300= XM_011515060.2:c.*3300T>C XM_011515060.2:c.*3300T>G
IKZF1 transcript variant X3 XM_011515060.1:c.*3300= XM_011515060.1:c.*3300T>C XM_011515060.1:c.*3300T>G
IKZF1 transcript variant X1 XM_011515058.3:c.*3300= XM_011515058.3:c.*3300T>C XM_011515058.3:c.*3300T>G
IKZF1 transcript variant X1 XM_011515058.2:c.*3300= XM_011515058.2:c.*3300T>C XM_011515058.2:c.*3300T>G
IKZF1 transcript variant X1 XM_011515058.1:c.*3300= XM_011515058.1:c.*3300T>C XM_011515058.1:c.*3300T>G
IKZF1 transcript variant X5 XM_011515065.3:c.*3300= XM_011515065.3:c.*3300T>C XM_011515065.3:c.*3300T>G
IKZF1 transcript variant X8 XM_011515065.2:c.*3300= XM_011515065.2:c.*3300T>C XM_011515065.2:c.*3300T>G
IKZF1 transcript variant X8 XM_011515065.1:c.*3300= XM_011515065.1:c.*3300T>C XM_011515065.1:c.*3300T>G
IKZF1 transcript variant X30 XM_011515073.3:c.*3300= XM_011515073.3:c.*3300T>C XM_011515073.3:c.*3300T>G
IKZF1 transcript variant X16 XM_011515073.2:c.*3300= XM_011515073.2:c.*3300T>C XM_011515073.2:c.*3300T>G
IKZF1 transcript variant X16 XM_011515073.1:c.*3300= XM_011515073.1:c.*3300T>C XM_011515073.1:c.*3300T>G
IKZF1 transcript variant X17 XM_011515070.3:c.*3300= XM_011515070.3:c.*3300T>C XM_011515070.3:c.*3300T>G
IKZF1 transcript variant X13 XM_011515070.2:c.*3300= XM_011515070.2:c.*3300T>C XM_011515070.2:c.*3300T>G
IKZF1 transcript variant X13 XM_011515070.1:c.*3300= XM_011515070.1:c.*3300T>C XM_011515070.1:c.*3300T>G
IKZF1 transcript variant X23 XM_011515071.3:c.*3300= XM_011515071.3:c.*3300T>C XM_011515071.3:c.*3300T>G
IKZF1 transcript variant X14 XM_011515071.2:c.*3300= XM_011515071.2:c.*3300T>C XM_011515071.2:c.*3300T>G
IKZF1 transcript variant X14 XM_011515071.1:c.*3300= XM_011515071.1:c.*3300T>C XM_011515071.1:c.*3300T>G
IKZF1 transcript variant X28 XM_011515072.3:c.*3300= XM_011515072.3:c.*3300T>C XM_011515072.3:c.*3300T>G
IKZF1 transcript variant X15 XM_011515072.2:c.*3300= XM_011515072.2:c.*3300T>C XM_011515072.2:c.*3300T>G
IKZF1 transcript variant X15 XM_011515072.1:c.*3300= XM_011515072.1:c.*3300T>C XM_011515072.1:c.*3300T>G
IKZF1 transcript variant X34 XM_011515074.3:c.*3300= XM_011515074.3:c.*3300T>C XM_011515074.3:c.*3300T>G
IKZF1 transcript variant X18 XM_011515074.2:c.*3300= XM_011515074.2:c.*3300T>C XM_011515074.2:c.*3300T>G
IKZF1 transcript variant X17 XM_011515074.1:c.*3300= XM_011515074.1:c.*3300T>C XM_011515074.1:c.*3300T>G
IKZF1 transcript variant X40 XM_011515077.3:c.*3300= XM_011515077.3:c.*3300T>C XM_011515077.3:c.*3300T>G
IKZF1 transcript variant X22 XM_011515077.2:c.*3300= XM_011515077.2:c.*3300T>C XM_011515077.2:c.*3300T>G
IKZF1 transcript variant X20 XM_011515077.1:c.*3300= XM_011515077.1:c.*3300T>C XM_011515077.1:c.*3300T>G
IKZF1 transcript variant X42 XM_011515078.3:c.*3300= XM_011515078.3:c.*3300T>C XM_011515078.3:c.*3300T>G
IKZF1 transcript variant X23 XM_011515078.2:c.*3300= XM_011515078.2:c.*3300T>C XM_011515078.2:c.*3300T>G
IKZF1 transcript variant X21 XM_011515078.1:c.*3300= XM_011515078.1:c.*3300T>C XM_011515078.1:c.*3300T>G
IKZF1 transcript variant X36 XM_017011668.2:c.*3300= XM_017011668.2:c.*3300T>C XM_017011668.2:c.*3300T>G
IKZF1 transcript variant X21 XM_017011668.1:c.*3300= XM_017011668.1:c.*3300T>C XM_017011668.1:c.*3300T>G
IKZF1 transcript variant X31 XM_047419741.1:c.*3300= XM_047419741.1:c.*3300T>C XM_047419741.1:c.*3300T>G
IKZF1 transcript variant X32 XM_047419742.1:c.*3300= XM_047419742.1:c.*3300T>C XM_047419742.1:c.*3300T>G
IKZF1 transcript variant X13 XM_047419726.1:c.*3300= XM_047419726.1:c.*3300T>C XM_047419726.1:c.*3300T>G
IKZF1 transcript variant X16 XM_047419729.1:c.*3300= XM_047419729.1:c.*3300T>C XM_047419729.1:c.*3300T>G
IKZF1 transcript variant X22 XM_047419734.1:c.*3300= XM_047419734.1:c.*3300T>C XM_047419734.1:c.*3300T>G
IKZF1 transcript variant X25 XM_047419736.1:c.*3300= XM_047419736.1:c.*3300T>C XM_047419736.1:c.*3300T>G
IKZF1 transcript variant X37 XM_047419745.1:c.*3300= XM_047419745.1:c.*3300T>C XM_047419745.1:c.*3300T>G
IKZF1 transcript variant X39 XM_047419747.1:c.*3300= XM_047419747.1:c.*3300T>C XM_047419747.1:c.*3300T>G
IKZF1 transcript variant X24 XM_047419735.1:c.*3300= XM_047419735.1:c.*3300T>C XM_047419735.1:c.*3300T>G
IKZF1 transcript variant X33 XM_047419743.1:c.*3300= XM_047419743.1:c.*3300T>C XM_047419743.1:c.*3300T>G
IKZF1 transcript variant X10 XM_047419724.1:c.*3300= XM_047419724.1:c.*3300T>C XM_047419724.1:c.*3300T>G
IKZF1 transcript variant X35 XM_047419744.1:c.*3300= XM_047419744.1:c.*3300T>C XM_047419744.1:c.*3300T>G
IKZF1 transcript variant X9 XM_047419723.1:c.*3300= XM_047419723.1:c.*3300T>C XM_047419723.1:c.*3300T>G
IKZF1 transcript variant X12 XM_047419725.1:c.*3300= XM_047419725.1:c.*3300T>C XM_047419725.1:c.*3300T>G
IKZF1 transcript variant X15 XM_047419728.1:c.*3300= XM_047419728.1:c.*3300T>C XM_047419728.1:c.*3300T>G
IKZF1 transcript variant X14 XM_047419727.1:c.*3300= XM_047419727.1:c.*3300T>C XM_047419727.1:c.*3300T>G
IKZF1 transcript variant X18 XM_047419730.1:c.*3300= XM_047419730.1:c.*3300T>C XM_047419730.1:c.*3300T>G
IKZF1 transcript variant X20 XM_047419732.1:c.*3300= XM_047419732.1:c.*3300T>C XM_047419732.1:c.*3300T>G
IKZF1 transcript variant X19 XM_047419731.1:c.*3300= XM_047419731.1:c.*3300T>C XM_047419731.1:c.*3300T>G
IKZF1 transcript variant X21 XM_047419733.1:c.*3300= XM_047419733.1:c.*3300T>C XM_047419733.1:c.*3300T>G
IKZF1 transcript variant X26 XM_047419738.1:c.*3300= XM_047419738.1:c.*3300T>C XM_047419738.1:c.*3300T>G
IKZF1 transcript variant X41 XM_047419748.1:c.*3300= XM_047419748.1:c.*3300T>C XM_047419748.1:c.*3300T>G
IKZF1 transcript variant 3 NM_001220766.1:c.*3300= NM_001220766.1:c.*3300T>C NM_001220766.1:c.*3300T>G
IKZF1 transcript variant X27 XM_047419739.1:c.*3300= XM_047419739.1:c.*3300T>C XM_047419739.1:c.*3300T>G
IKZF1 transcript variant X29 XM_047419740.1:c.*3300= XM_047419740.1:c.*3300T>C XM_047419740.1:c.*3300T>G
IKZF1 transcript variant X43 XM_047419749.1:c.*3300= XM_047419749.1:c.*3300T>C XM_047419749.1:c.*3300T>G
IKZF1 transcript variant X38 XM_047419746.1:c.*3300= XM_047419746.1:c.*3300T>C XM_047419746.1:c.*3300T>G
IKZF1 transcript variant 6 NM_001220769.1:c.*3300= NM_001220769.1:c.*3300T>C NM_001220769.1:c.*3300T>G
IKZF1 transcript variant X44 XM_047419750.1:c.*3300= XM_047419750.1:c.*3300T>C XM_047419750.1:c.*3300T>G
IKZF1 transcript variant 10 NM_001220773.1:c.*3300= NM_001220773.1:c.*3300T>C NM_001220773.1:c.*3300T>G
IKZF1 transcript variant 11 NM_001220774.1:c.*3300= NM_001220774.1:c.*3300T>C NM_001220774.1:c.*3300T>G
IKZF1 transcript variant 12 NM_001220775.1:c.*3300= NM_001220775.1:c.*3300T>C NM_001220775.1:c.*3300T>G
IKZF1 transcript variant 13 NM_001220776.1:c.*3300= NM_001220776.1:c.*3300T>C NM_001220776.1:c.*3300T>G
IKZF1 transcript variant 9 NM_001220772.1:c.*3300= NM_001220772.1:c.*3300T>C NM_001220772.1:c.*3300T>G
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4163196308 Apr 26, 2021 (155)
2 TOPMED ss4745465577 Apr 26, 2021 (155)
3 TOPMED ss4745465578 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000007.14 - 50403927 Apr 26, 2021 (155)
5 TopMed

Submission ignored due to conflicting rows:
Row 582843136 (NC_000007.14:50403926:T:C 2/264690)
Row 582843137 (NC_000007.14:50403926:T:G 2/264690)

- Apr 26, 2021 (155)
6 TopMed

Submission ignored due to conflicting rows:
Row 582843136 (NC_000007.14:50403926:T:C 2/264690)
Row 582843137 (NC_000007.14:50403926:T:G 2/264690)

- Apr 26, 2021 (155)
7 ALFA NC_000007.14 - 50403927 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
261053815, 12378437101, ss4163196308, ss4745465577 NC_000007.14:50403926:T:C NC_000007.14:50403926:T:C (self)
12378437101, ss4745465578 NC_000007.14:50403926:T:G NC_000007.14:50403926:T:G (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 rs1483969414

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