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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.

rs1468289931

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:35889901 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
A=0.000004 (1/243846, GnomAD_exome)
T=0.000007 (1/140230, GnomAD) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NFKBID : Missense 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 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=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 C=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 243846 C=0.999996 A=0.000004
gnomAD - Exomes European Sub 130568 C=0.999992 A=0.000008
gnomAD - Exomes Asian Sub 48368 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 34342 C=1.00000 A=0.00000
gnomAD - Exomes African Sub 14760 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9844 C=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5964 C=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140230 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75936 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42030 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13660 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 19 NC_000019.10:g.35889901C>A
GRCh38.p14 chr 19 NC_000019.10:g.35889901C>T
GRCh37.p13 chr 19 NC_000019.9:g.36380803C>A
GRCh37.p13 chr 19 NC_000019.9:g.36380803C>T
Gene: NFKBID, NFKB inhibitor delta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NFKBID transcript variant 5 NM_001365706.1:c. N/A Genic Downstream Transcript Variant
NFKBID transcript variant 3 NM_032721.3:c.1333G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 3 NP_116110.2:p.Gly445Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant 3 NM_032721.3:c.1333G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 3 NP_116110.2:p.Gly445Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant 4 NM_001365705.1:c.877G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 4 NP_001352634.1:p.Gly293Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant 4 NM_001365705.1:c.877G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 4 NP_001352634.1:p.Gly293Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant 2 NM_001321831.2:c.922G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 2 NP_001308760.1:p.Gly308Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant 2 NM_001321831.2:c.922G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 2 NP_001308760.1:p.Gly308Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant 1 NM_139239.3:c.877G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 1 NP_640332.1:p.Gly293Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant 1 NM_139239.3:c.877G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform 1 NP_640332.1:p.Gly293Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X1 XM_047439557.1:c.1378G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X1 XP_047295513.1:p.Gly460Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X1 XM_047439557.1:c.1378G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X1 XP_047295513.1:p.Gly460Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X2 XM_047439558.1:c.1360G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X2 XP_047295514.1:p.Gly454Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X2 XM_047439558.1:c.1360G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X2 XP_047295514.1:p.Gly454Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X3 XM_047439559.1:c.1315G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X3 XP_047295515.1:p.Gly439Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X3 XM_047439559.1:c.1315G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X3 XP_047295515.1:p.Gly439Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X4 XM_005259340.4:c.922G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_005259397.1:p.Gly308Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X4 XM_005259340.4:c.922G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_005259397.1:p.Gly308Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X5 XM_017027390.2:c.922G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_016882879.1:p.Gly308Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X5 XM_017027390.2:c.922G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_016882879.1:p.Gly308Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X6 XM_017027391.2:c.877G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X5 XP_016882880.1:p.Gly293Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X6 XM_017027391.2:c.877G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X5 XP_016882880.1:p.Gly293Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X7 XM_011527420.3:c.922G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_011525722.1:p.Gly308Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X7 XM_011527420.3:c.922G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X4 XP_011525722.1:p.Gly308Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X8 XM_047439560.1:c.877G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X5 XP_047295516.1:p.Gly293Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X8 XM_047439560.1:c.877G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X5 XP_047295516.1:p.Gly293Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X9 XM_047439561.1:c.847G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X6 XP_047295517.1:p.Gly283Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X9 XM_047439561.1:c.847G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X6 XP_047295517.1:p.Gly283Ser G (Gly) > S (Ser) Missense Variant
NFKBID transcript variant X10 XM_017027397.3:c.778G>T G [GGC] > C [TGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X7 XP_016882886.1:p.Gly260Cys G (Gly) > C (Cys) Missense Variant
NFKBID transcript variant X10 XM_017027397.3:c.778G>A G [GGC] > S [AGC] Coding Sequence Variant
NF-kappa-B inhibitor delta isoform X7 XP_016882886.1:p.Gly260Ser G (Gly) > S (Ser) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 19 NC_000019.10:g.35889901= NC_000019.10:g.35889901C>A NC_000019.10:g.35889901C>T
GRCh37.p13 chr 19 NC_000019.9:g.36380803= NC_000019.9:g.36380803C>A NC_000019.9:g.36380803C>T
NFKBID transcript variant X4 XM_005259340.4:c.922= XM_005259340.4:c.922G>T XM_005259340.4:c.922G>A
NFKBID transcript variant X1 XM_005259340.3:c.922= XM_005259340.3:c.922G>T XM_005259340.3:c.922G>A
NFKBID transcript variant X4 XM_005259340.2:c.922= XM_005259340.2:c.922G>T XM_005259340.2:c.922G>A
NFKBID transcript variant X2 XM_005259340.1:c.922= XM_005259340.1:c.922G>T XM_005259340.1:c.922G>A
NFKBID transcript variant 3 NM_032721.3:c.1333= NM_032721.3:c.1333G>T NM_032721.3:c.1333G>A
TA-NFKBH transcript NM_032721.2:c.1333= NM_032721.2:c.1333G>T NM_032721.2:c.1333G>A
MGC11314 transcript NM_032721.1:c.388= NM_032721.1:c.388G>T NM_032721.1:c.388G>A
NFKBID transcript variant 1 NM_139239.3:c.877= NM_139239.3:c.877G>T NM_139239.3:c.877G>A
NFKBID transcript variant 1 NM_139239.2:c.877= NM_139239.2:c.877G>T NM_139239.2:c.877G>A
NFKBID transcript NM_139239.1:c.877= NM_139239.1:c.877G>T NM_139239.1:c.877G>A
NFKBID transcript variant X7 XM_011527420.3:c.922= XM_011527420.3:c.922G>T XM_011527420.3:c.922G>A
NFKBID transcript variant X5 XM_011527420.2:c.922= XM_011527420.2:c.922G>T XM_011527420.2:c.922G>A
NFKBID transcript variant X5 XM_011527420.1:c.922= XM_011527420.1:c.922G>T XM_011527420.1:c.922G>A
NFKBID transcript variant X10 XM_017027397.3:c.778= XM_017027397.3:c.778G>T XM_017027397.3:c.778G>A
NFKBID transcript variant X14 XM_017027397.2:c.778= XM_017027397.2:c.778G>T XM_017027397.2:c.778G>A
NFKBID transcript variant X13 XM_017027397.1:c.778= XM_017027397.1:c.778G>T XM_017027397.1:c.778G>A
NFKBID transcript variant X5 XM_017027390.2:c.922= XM_017027390.2:c.922G>T XM_017027390.2:c.922G>A
NFKBID transcript variant X3 XM_017027390.1:c.922= XM_017027390.1:c.922G>T XM_017027390.1:c.922G>A
NFKBID transcript variant X6 XM_017027391.2:c.877= XM_017027391.2:c.877G>T XM_017027391.2:c.877G>A
NFKBID transcript variant X4 XM_017027391.1:c.877= XM_017027391.1:c.877G>T XM_017027391.1:c.877G>A
NFKBID transcript variant 2 NM_001321831.2:c.922= NM_001321831.2:c.922G>T NM_001321831.2:c.922G>A
NFKBID transcript variant 2 NM_001321831.1:c.922= NM_001321831.1:c.922G>T NM_001321831.1:c.922G>A
NFKBID transcript variant X1 XM_047439557.1:c.1378= XM_047439557.1:c.1378G>T XM_047439557.1:c.1378G>A
NFKBID transcript variant X2 XM_047439558.1:c.1360= XM_047439558.1:c.1360G>T XM_047439558.1:c.1360G>A
NFKBID transcript variant X3 XM_047439559.1:c.1315= XM_047439559.1:c.1315G>T XM_047439559.1:c.1315G>A
NFKBID transcript variant X8 XM_047439560.1:c.877= XM_047439560.1:c.877G>T XM_047439560.1:c.877G>A
NFKBID transcript variant 4 NM_001365705.1:c.877= NM_001365705.1:c.877G>T NM_001365705.1:c.877G>A
NFKBID transcript variant X9 XM_047439561.1:c.847= XM_047439561.1:c.847G>T XM_047439561.1:c.847G>A
NF-kappa-B inhibitor delta isoform X4 XP_005259397.1:p.Gly308= XP_005259397.1:p.Gly308Cys XP_005259397.1:p.Gly308Ser
NF-kappa-B inhibitor delta isoform 3 NP_116110.2:p.Gly445= NP_116110.2:p.Gly445Cys NP_116110.2:p.Gly445Ser
NF-kappa-B inhibitor delta isoform 1 NP_640332.1:p.Gly293= NP_640332.1:p.Gly293Cys NP_640332.1:p.Gly293Ser
NF-kappa-B inhibitor delta isoform X4 XP_011525722.1:p.Gly308= XP_011525722.1:p.Gly308Cys XP_011525722.1:p.Gly308Ser
NF-kappa-B inhibitor delta isoform X7 XP_016882886.1:p.Gly260= XP_016882886.1:p.Gly260Cys XP_016882886.1:p.Gly260Ser
NF-kappa-B inhibitor delta isoform X4 XP_016882879.1:p.Gly308= XP_016882879.1:p.Gly308Cys XP_016882879.1:p.Gly308Ser
NF-kappa-B inhibitor delta isoform X5 XP_016882880.1:p.Gly293= XP_016882880.1:p.Gly293Cys XP_016882880.1:p.Gly293Ser
NF-kappa-B inhibitor delta isoform 2 NP_001308760.1:p.Gly308= NP_001308760.1:p.Gly308Cys NP_001308760.1:p.Gly308Ser
NF-kappa-B inhibitor delta isoform X1 XP_047295513.1:p.Gly460= XP_047295513.1:p.Gly460Cys XP_047295513.1:p.Gly460Ser
NF-kappa-B inhibitor delta isoform X2 XP_047295514.1:p.Gly454= XP_047295514.1:p.Gly454Cys XP_047295514.1:p.Gly454Ser
NF-kappa-B inhibitor delta isoform X3 XP_047295515.1:p.Gly439= XP_047295515.1:p.Gly439Cys XP_047295515.1:p.Gly439Ser
NF-kappa-B inhibitor delta isoform X5 XP_047295516.1:p.Gly293= XP_047295516.1:p.Gly293Cys XP_047295516.1:p.Gly293Ser
NF-kappa-B inhibitor delta isoform 4 NP_001352634.1:p.Gly293= NP_001352634.1:p.Gly293Cys NP_001352634.1:p.Gly293Ser
NF-kappa-B inhibitor delta isoform X6 XP_047295517.1:p.Gly283= XP_047295517.1:p.Gly283Cys XP_047295517.1:p.Gly283Ser
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 ss2743918495 Nov 08, 2017 (151)
2 GNOMAD ss4330748542 Apr 26, 2021 (155)
3 TOPMED ss5073910141 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000019.10 - 35889901 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000019.9 - 36380803 Jul 13, 2019 (153)
6 TopMed NC_000019.10 - 35889901 Apr 26, 2021 (155)
7 ALFA NC_000019.10 - 35889901 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
13232074, ss2743918495 NC_000019.9:36380802:C:A NC_000019.10:35889900:C:A (self)
539249923, 289455805, 14988660520, ss4330748542, ss5073910141 NC_000019.10:35889900:C:T NC_000019.10:35889900:C:T (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 rs1468289931

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