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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.

rs58705977

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:14176257-14176275 (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)8 / del(A)6 / del(A)5 / del(…

del(A)8 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA

Variation Type
Indel Insertion and Deletion
Frequency
(A)19=0.2318 (1161/5008, 1000G)
del(A)8=0.000 (0/292, ALFA)
del(A)6=0.000 (0/292, ALFA) (+ 7 more)
del(A)5=0.000 (0/292, ALFA)
del(A)4=0.000 (0/292, ALFA)
delAAA=0.000 (0/292, ALFA)
delAA=0.000 (0/292, ALFA)
delA=0.000 (0/292, ALFA)
dupA=0.000 (0/292, ALFA)
dupAA=0.000 (0/292, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NFIB : 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 292 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African Sub 264 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 258 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 14 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 10 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 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
1000Genomes Global Study-wide 5008 (A)19=0.2318 delAA=0.7682
1000Genomes African Sub 1322 (A)19=0.4319 delAA=0.5681
1000Genomes East Asian Sub 1008 (A)19=0.2401 delAA=0.7599
1000Genomes Europe Sub 1006 (A)19=0.0338 delAA=0.9662
1000Genomes South Asian Sub 978 (A)19=0.202 delAA=0.798
1000Genomes American Sub 694 (A)19=0.167 delAA=0.833
Allele Frequency Aggregator Total Global 292 (A)19=1.000 del(A)8=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator African Sub 264 (A)19=1.000 del(A)8=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 14 (A)19=1.00 del(A)8=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Other Sub 10 (A)19=1.0 del(A)8=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Asian Sub 4 (A)19=1.0 del(A)8=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator European Sub 0 (A)19=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)19=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator South Asian Sub 0 (A)19=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
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 9 NC_000009.12:g.14176268_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176270_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176271_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176272_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176273_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176274_14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176275del
GRCh38.p14 chr 9 NC_000009.12:g.14176275dup
GRCh38.p14 chr 9 NC_000009.12:g.14176274_14176275dup
GRCh37.p13 chr 9 NC_000009.11:g.14176267_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176269_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176270_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176271_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176272_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176273_14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176274del
GRCh37.p13 chr 9 NC_000009.11:g.14176274dup
GRCh37.p13 chr 9 NC_000009.11:g.14176273_14176274dup
Gene: NFIB, nuclear factor I B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NFIB transcript variant 1 NM_001190737.2:c.616+3463…

NM_001190737.2:c.616+3463_616+3470del

N/A Intron Variant
NFIB transcript variant 2 NM_001190738.2:c.694+3463…

NM_001190738.2:c.694+3463_694+3470del

N/A Intron Variant
NFIB transcript variant 4 NM_001282787.2:c.-141+346…

NM_001282787.2:c.-141+3463_-141+3470del

N/A Intron Variant
NFIB transcript variant 5 NM_001369458.1:c.682+3463…

NM_001369458.1:c.682+3463_682+3470del

N/A Intron Variant
NFIB transcript variant 6 NM_001369459.1:c.682+3463…

NM_001369459.1:c.682+3463_682+3470del

N/A Intron Variant
NFIB transcript variant 7 NM_001369460.1:c.604+3463…

NM_001369460.1:c.604+3463_604+3470del

N/A Intron Variant
NFIB transcript variant 8 NM_001369461.1:c.616+3463…

NM_001369461.1:c.616+3463_616+3470del

N/A Intron Variant
NFIB transcript variant 9 NM_001369462.1:c.682+3463…

NM_001369462.1:c.682+3463_682+3470del

N/A Intron Variant
NFIB transcript variant 10 NM_001369463.1:c.604+3463…

NM_001369463.1:c.604+3463_604+3470del

N/A Intron Variant
NFIB transcript variant 11 NM_001369464.1:c.616+3463…

NM_001369464.1:c.616+3463_616+3470del

N/A Intron Variant
NFIB transcript variant 12 NM_001369465.1:c.589+3463…

NM_001369465.1:c.589+3463_589+3470del

N/A Intron Variant
NFIB transcript variant 13 NM_001369466.1:c.604+3463…

NM_001369466.1:c.604+3463_604+3470del

N/A Intron Variant
NFIB transcript variant 14 NM_001369467.1:c.589+3463…

NM_001369467.1:c.589+3463_589+3470del

N/A Intron Variant
NFIB transcript variant 15 NM_001369468.1:c.682+3463…

NM_001369468.1:c.682+3463_682+3470del

N/A Intron Variant
NFIB transcript variant 16 NM_001369469.1:c.472+3463…

NM_001369469.1:c.472+3463_472+3470del

N/A Intron Variant
NFIB transcript variant 17 NM_001369470.1:c.379+3463…

NM_001369470.1:c.379+3463_379+3470del

N/A Intron Variant
NFIB transcript variant 18 NM_001369471.1:c.616+3463…

NM_001369471.1:c.616+3463_616+3470del

N/A Intron Variant
NFIB transcript variant 19 NM_001369472.1:c.604+3463…

NM_001369472.1:c.604+3463_604+3470del

N/A Intron Variant
NFIB transcript variant 20 NM_001369473.1:c.604+3463…

NM_001369473.1:c.604+3463_604+3470del

N/A Intron Variant
NFIB transcript variant 21 NM_001369474.1:c.601+3463…

NM_001369474.1:c.601+3463_601+3470del

N/A Intron Variant
NFIB transcript variant 22 NM_001369475.1:c.391+3463…

NM_001369475.1:c.391+3463_391+3470del

N/A Intron Variant
NFIB transcript variant 23 NM_001369476.1:c.589+3463…

NM_001369476.1:c.589+3463_589+3470del

N/A Intron Variant
NFIB transcript variant 24 NM_001369477.1:c.563-2037…

NM_001369477.1:c.563-20371_563-20364del

N/A Intron Variant
NFIB transcript variant 25 NM_001369478.1:c.379+3463…

NM_001369478.1:c.379+3463_379+3470del

N/A Intron Variant
NFIB transcript variant 26 NM_001369479.1:c.79+3463_…

NM_001369479.1:c.79+3463_79+3470del

N/A Intron Variant
NFIB transcript variant 27 NM_001369480.1:c.79+3463_…

NM_001369480.1:c.79+3463_79+3470del

N/A Intron Variant
NFIB transcript variant 3 NM_005596.3:c.616+3463_61…

NM_005596.3:c.616+3463_616+3470del

N/A Intron Variant
NFIB transcript variant 28 NM_001369481.1:c. N/A Genic Downstream Transcript Variant
NFIB transcript variant 29 NR_161382.1:n. N/A Intron Variant
NFIB transcript variant 30 NR_161383.1:n. N/A Intron Variant
NFIB transcript variant 31 NR_161384.1:n. N/A Intron Variant
NFIB transcript variant 32 NR_161385.1: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)19= del(A)8 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA
GRCh38.p14 chr 9 NC_000009.12:g.14176257_14176275= NC_000009.12:g.14176268_14176275del NC_000009.12:g.14176270_14176275del NC_000009.12:g.14176271_14176275del NC_000009.12:g.14176272_14176275del NC_000009.12:g.14176273_14176275del NC_000009.12:g.14176274_14176275del NC_000009.12:g.14176275del NC_000009.12:g.14176275dup NC_000009.12:g.14176274_14176275dup
GRCh37.p13 chr 9 NC_000009.11:g.14176256_14176274= NC_000009.11:g.14176267_14176274del NC_000009.11:g.14176269_14176274del NC_000009.11:g.14176270_14176274del NC_000009.11:g.14176271_14176274del NC_000009.11:g.14176272_14176274del NC_000009.11:g.14176273_14176274del NC_000009.11:g.14176274del NC_000009.11:g.14176274dup NC_000009.11:g.14176273_14176274dup
NFIB transcript variant 1 NM_001190737.1:c.616+3470= NM_001190737.1:c.616+3463_616+3470del NM_001190737.1:c.616+3465_616+3470del NM_001190737.1:c.616+3466_616+3470del NM_001190737.1:c.616+3467_616+3470del NM_001190737.1:c.616+3468_616+3470del NM_001190737.1:c.616+3469_616+3470del NM_001190737.1:c.616+3470del NM_001190737.1:c.616+3470dup NM_001190737.1:c.616+3469_616+3470dup
NFIB transcript variant 1 NM_001190737.2:c.616+3470= NM_001190737.2:c.616+3463_616+3470del NM_001190737.2:c.616+3465_616+3470del NM_001190737.2:c.616+3466_616+3470del NM_001190737.2:c.616+3467_616+3470del NM_001190737.2:c.616+3468_616+3470del NM_001190737.2:c.616+3469_616+3470del NM_001190737.2:c.616+3470del NM_001190737.2:c.616+3470dup NM_001190737.2:c.616+3469_616+3470dup
NFIB transcript variant 2 NM_001190738.1:c.694+3470= NM_001190738.1:c.694+3463_694+3470del NM_001190738.1:c.694+3465_694+3470del NM_001190738.1:c.694+3466_694+3470del NM_001190738.1:c.694+3467_694+3470del NM_001190738.1:c.694+3468_694+3470del NM_001190738.1:c.694+3469_694+3470del NM_001190738.1:c.694+3470del NM_001190738.1:c.694+3470dup NM_001190738.1:c.694+3469_694+3470dup
NFIB transcript variant 2 NM_001190738.2:c.694+3470= NM_001190738.2:c.694+3463_694+3470del NM_001190738.2:c.694+3465_694+3470del NM_001190738.2:c.694+3466_694+3470del NM_001190738.2:c.694+3467_694+3470del NM_001190738.2:c.694+3468_694+3470del NM_001190738.2:c.694+3469_694+3470del NM_001190738.2:c.694+3470del NM_001190738.2:c.694+3470dup NM_001190738.2:c.694+3469_694+3470dup
NFIB transcript variant 4 NM_001282787.2:c.-141+3470= NM_001282787.2:c.-141+3463_-141+3470del NM_001282787.2:c.-141+3465_-141+3470del NM_001282787.2:c.-141+3466_-141+3470del NM_001282787.2:c.-141+3467_-141+3470del NM_001282787.2:c.-141+3468_-141+3470del NM_001282787.2:c.-141+3469_-141+3470del NM_001282787.2:c.-141+3470del NM_001282787.2:c.-141+3470dup NM_001282787.2:c.-141+3469_-141+3470dup
NFIB transcript variant 5 NM_001369458.1:c.682+3470= NM_001369458.1:c.682+3463_682+3470del NM_001369458.1:c.682+3465_682+3470del NM_001369458.1:c.682+3466_682+3470del NM_001369458.1:c.682+3467_682+3470del NM_001369458.1:c.682+3468_682+3470del NM_001369458.1:c.682+3469_682+3470del NM_001369458.1:c.682+3470del NM_001369458.1:c.682+3470dup NM_001369458.1:c.682+3469_682+3470dup
NFIB transcript variant 6 NM_001369459.1:c.682+3470= NM_001369459.1:c.682+3463_682+3470del NM_001369459.1:c.682+3465_682+3470del NM_001369459.1:c.682+3466_682+3470del NM_001369459.1:c.682+3467_682+3470del NM_001369459.1:c.682+3468_682+3470del NM_001369459.1:c.682+3469_682+3470del NM_001369459.1:c.682+3470del NM_001369459.1:c.682+3470dup NM_001369459.1:c.682+3469_682+3470dup
NFIB transcript variant 7 NM_001369460.1:c.604+3470= NM_001369460.1:c.604+3463_604+3470del NM_001369460.1:c.604+3465_604+3470del NM_001369460.1:c.604+3466_604+3470del NM_001369460.1:c.604+3467_604+3470del NM_001369460.1:c.604+3468_604+3470del NM_001369460.1:c.604+3469_604+3470del NM_001369460.1:c.604+3470del NM_001369460.1:c.604+3470dup NM_001369460.1:c.604+3469_604+3470dup
NFIB transcript variant 8 NM_001369461.1:c.616+3470= NM_001369461.1:c.616+3463_616+3470del NM_001369461.1:c.616+3465_616+3470del NM_001369461.1:c.616+3466_616+3470del NM_001369461.1:c.616+3467_616+3470del NM_001369461.1:c.616+3468_616+3470del NM_001369461.1:c.616+3469_616+3470del NM_001369461.1:c.616+3470del NM_001369461.1:c.616+3470dup NM_001369461.1:c.616+3469_616+3470dup
NFIB transcript variant 9 NM_001369462.1:c.682+3470= NM_001369462.1:c.682+3463_682+3470del NM_001369462.1:c.682+3465_682+3470del NM_001369462.1:c.682+3466_682+3470del NM_001369462.1:c.682+3467_682+3470del NM_001369462.1:c.682+3468_682+3470del NM_001369462.1:c.682+3469_682+3470del NM_001369462.1:c.682+3470del NM_001369462.1:c.682+3470dup NM_001369462.1:c.682+3469_682+3470dup
NFIB transcript variant 10 NM_001369463.1:c.604+3470= NM_001369463.1:c.604+3463_604+3470del NM_001369463.1:c.604+3465_604+3470del NM_001369463.1:c.604+3466_604+3470del NM_001369463.1:c.604+3467_604+3470del NM_001369463.1:c.604+3468_604+3470del NM_001369463.1:c.604+3469_604+3470del NM_001369463.1:c.604+3470del NM_001369463.1:c.604+3470dup NM_001369463.1:c.604+3469_604+3470dup
NFIB transcript variant 11 NM_001369464.1:c.616+3470= NM_001369464.1:c.616+3463_616+3470del NM_001369464.1:c.616+3465_616+3470del NM_001369464.1:c.616+3466_616+3470del NM_001369464.1:c.616+3467_616+3470del NM_001369464.1:c.616+3468_616+3470del NM_001369464.1:c.616+3469_616+3470del NM_001369464.1:c.616+3470del NM_001369464.1:c.616+3470dup NM_001369464.1:c.616+3469_616+3470dup
NFIB transcript variant 12 NM_001369465.1:c.589+3470= NM_001369465.1:c.589+3463_589+3470del NM_001369465.1:c.589+3465_589+3470del NM_001369465.1:c.589+3466_589+3470del NM_001369465.1:c.589+3467_589+3470del NM_001369465.1:c.589+3468_589+3470del NM_001369465.1:c.589+3469_589+3470del NM_001369465.1:c.589+3470del NM_001369465.1:c.589+3470dup NM_001369465.1:c.589+3469_589+3470dup
NFIB transcript variant 13 NM_001369466.1:c.604+3470= NM_001369466.1:c.604+3463_604+3470del NM_001369466.1:c.604+3465_604+3470del NM_001369466.1:c.604+3466_604+3470del NM_001369466.1:c.604+3467_604+3470del NM_001369466.1:c.604+3468_604+3470del NM_001369466.1:c.604+3469_604+3470del NM_001369466.1:c.604+3470del NM_001369466.1:c.604+3470dup NM_001369466.1:c.604+3469_604+3470dup
NFIB transcript variant 14 NM_001369467.1:c.589+3470= NM_001369467.1:c.589+3463_589+3470del NM_001369467.1:c.589+3465_589+3470del NM_001369467.1:c.589+3466_589+3470del NM_001369467.1:c.589+3467_589+3470del NM_001369467.1:c.589+3468_589+3470del NM_001369467.1:c.589+3469_589+3470del NM_001369467.1:c.589+3470del NM_001369467.1:c.589+3470dup NM_001369467.1:c.589+3469_589+3470dup
NFIB transcript variant 15 NM_001369468.1:c.682+3470= NM_001369468.1:c.682+3463_682+3470del NM_001369468.1:c.682+3465_682+3470del NM_001369468.1:c.682+3466_682+3470del NM_001369468.1:c.682+3467_682+3470del NM_001369468.1:c.682+3468_682+3470del NM_001369468.1:c.682+3469_682+3470del NM_001369468.1:c.682+3470del NM_001369468.1:c.682+3470dup NM_001369468.1:c.682+3469_682+3470dup
NFIB transcript variant 16 NM_001369469.1:c.472+3470= NM_001369469.1:c.472+3463_472+3470del NM_001369469.1:c.472+3465_472+3470del NM_001369469.1:c.472+3466_472+3470del NM_001369469.1:c.472+3467_472+3470del NM_001369469.1:c.472+3468_472+3470del NM_001369469.1:c.472+3469_472+3470del NM_001369469.1:c.472+3470del NM_001369469.1:c.472+3470dup NM_001369469.1:c.472+3469_472+3470dup
NFIB transcript variant 17 NM_001369470.1:c.379+3470= NM_001369470.1:c.379+3463_379+3470del NM_001369470.1:c.379+3465_379+3470del NM_001369470.1:c.379+3466_379+3470del NM_001369470.1:c.379+3467_379+3470del NM_001369470.1:c.379+3468_379+3470del NM_001369470.1:c.379+3469_379+3470del NM_001369470.1:c.379+3470del NM_001369470.1:c.379+3470dup NM_001369470.1:c.379+3469_379+3470dup
NFIB transcript variant 18 NM_001369471.1:c.616+3470= NM_001369471.1:c.616+3463_616+3470del NM_001369471.1:c.616+3465_616+3470del NM_001369471.1:c.616+3466_616+3470del NM_001369471.1:c.616+3467_616+3470del NM_001369471.1:c.616+3468_616+3470del NM_001369471.1:c.616+3469_616+3470del NM_001369471.1:c.616+3470del NM_001369471.1:c.616+3470dup NM_001369471.1:c.616+3469_616+3470dup
NFIB transcript variant 19 NM_001369472.1:c.604+3470= NM_001369472.1:c.604+3463_604+3470del NM_001369472.1:c.604+3465_604+3470del NM_001369472.1:c.604+3466_604+3470del NM_001369472.1:c.604+3467_604+3470del NM_001369472.1:c.604+3468_604+3470del NM_001369472.1:c.604+3469_604+3470del NM_001369472.1:c.604+3470del NM_001369472.1:c.604+3470dup NM_001369472.1:c.604+3469_604+3470dup
NFIB transcript variant 20 NM_001369473.1:c.604+3470= NM_001369473.1:c.604+3463_604+3470del NM_001369473.1:c.604+3465_604+3470del NM_001369473.1:c.604+3466_604+3470del NM_001369473.1:c.604+3467_604+3470del NM_001369473.1:c.604+3468_604+3470del NM_001369473.1:c.604+3469_604+3470del NM_001369473.1:c.604+3470del NM_001369473.1:c.604+3470dup NM_001369473.1:c.604+3469_604+3470dup
NFIB transcript variant 21 NM_001369474.1:c.601+3470= NM_001369474.1:c.601+3463_601+3470del NM_001369474.1:c.601+3465_601+3470del NM_001369474.1:c.601+3466_601+3470del NM_001369474.1:c.601+3467_601+3470del NM_001369474.1:c.601+3468_601+3470del NM_001369474.1:c.601+3469_601+3470del NM_001369474.1:c.601+3470del NM_001369474.1:c.601+3470dup NM_001369474.1:c.601+3469_601+3470dup
NFIB transcript variant 22 NM_001369475.1:c.391+3470= NM_001369475.1:c.391+3463_391+3470del NM_001369475.1:c.391+3465_391+3470del NM_001369475.1:c.391+3466_391+3470del NM_001369475.1:c.391+3467_391+3470del NM_001369475.1:c.391+3468_391+3470del NM_001369475.1:c.391+3469_391+3470del NM_001369475.1:c.391+3470del NM_001369475.1:c.391+3470dup NM_001369475.1:c.391+3469_391+3470dup
NFIB transcript variant 23 NM_001369476.1:c.589+3470= NM_001369476.1:c.589+3463_589+3470del NM_001369476.1:c.589+3465_589+3470del NM_001369476.1:c.589+3466_589+3470del NM_001369476.1:c.589+3467_589+3470del NM_001369476.1:c.589+3468_589+3470del NM_001369476.1:c.589+3469_589+3470del NM_001369476.1:c.589+3470del NM_001369476.1:c.589+3470dup NM_001369476.1:c.589+3469_589+3470dup
NFIB transcript variant 24 NM_001369477.1:c.563-20364= NM_001369477.1:c.563-20371_563-20364del NM_001369477.1:c.563-20369_563-20364del NM_001369477.1:c.563-20368_563-20364del NM_001369477.1:c.563-20367_563-20364del NM_001369477.1:c.563-20366_563-20364del NM_001369477.1:c.563-20365_563-20364del NM_001369477.1:c.563-20364del NM_001369477.1:c.563-20364dup NM_001369477.1:c.563-20365_563-20364dup
NFIB transcript variant 25 NM_001369478.1:c.379+3470= NM_001369478.1:c.379+3463_379+3470del NM_001369478.1:c.379+3465_379+3470del NM_001369478.1:c.379+3466_379+3470del NM_001369478.1:c.379+3467_379+3470del NM_001369478.1:c.379+3468_379+3470del NM_001369478.1:c.379+3469_379+3470del NM_001369478.1:c.379+3470del NM_001369478.1:c.379+3470dup NM_001369478.1:c.379+3469_379+3470dup
NFIB transcript variant 26 NM_001369479.1:c.79+3470= NM_001369479.1:c.79+3463_79+3470del NM_001369479.1:c.79+3465_79+3470del NM_001369479.1:c.79+3466_79+3470del NM_001369479.1:c.79+3467_79+3470del NM_001369479.1:c.79+3468_79+3470del NM_001369479.1:c.79+3469_79+3470del NM_001369479.1:c.79+3470del NM_001369479.1:c.79+3470dup NM_001369479.1:c.79+3469_79+3470dup
NFIB transcript variant 27 NM_001369480.1:c.79+3470= NM_001369480.1:c.79+3463_79+3470del NM_001369480.1:c.79+3465_79+3470del NM_001369480.1:c.79+3466_79+3470del NM_001369480.1:c.79+3467_79+3470del NM_001369480.1:c.79+3468_79+3470del NM_001369480.1:c.79+3469_79+3470del NM_001369480.1:c.79+3470del NM_001369480.1:c.79+3470dup NM_001369480.1:c.79+3469_79+3470dup
NFIB transcript variant 3 NM_005596.3:c.616+3470= NM_005596.3:c.616+3463_616+3470del NM_005596.3:c.616+3465_616+3470del NM_005596.3:c.616+3466_616+3470del NM_005596.3:c.616+3467_616+3470del NM_005596.3:c.616+3468_616+3470del NM_005596.3:c.616+3469_616+3470del NM_005596.3:c.616+3470del NM_005596.3:c.616+3470dup NM_005596.3:c.616+3469_616+3470dup
NFIB transcript variant X1 XM_005251467.1:c.616+3470= XM_005251467.1:c.616+3463_616+3470del XM_005251467.1:c.616+3465_616+3470del XM_005251467.1:c.616+3466_616+3470del XM_005251467.1:c.616+3467_616+3470del XM_005251467.1:c.616+3468_616+3470del XM_005251467.1:c.616+3469_616+3470del XM_005251467.1:c.616+3470del XM_005251467.1:c.616+3470dup XM_005251467.1:c.616+3469_616+3470dup
NFIB transcript variant X2 XM_005251468.1:c.604+3470= XM_005251468.1:c.604+3463_604+3470del XM_005251468.1:c.604+3465_604+3470del XM_005251468.1:c.604+3466_604+3470del XM_005251468.1:c.604+3467_604+3470del XM_005251468.1:c.604+3468_604+3470del XM_005251468.1:c.604+3469_604+3470del XM_005251468.1:c.604+3470del XM_005251468.1:c.604+3470dup XM_005251468.1:c.604+3469_604+3470dup
NFIB transcript variant X4 XM_005251469.1:c.616+3470= XM_005251469.1:c.616+3463_616+3470del XM_005251469.1:c.616+3465_616+3470del XM_005251469.1:c.616+3466_616+3470del XM_005251469.1:c.616+3467_616+3470del XM_005251469.1:c.616+3468_616+3470del XM_005251469.1:c.616+3469_616+3470del XM_005251469.1:c.616+3470del XM_005251469.1:c.616+3470dup XM_005251469.1:c.616+3469_616+3470dup
NFIB transcript variant X7 XM_005251470.1:c.616+3470= XM_005251470.1:c.616+3463_616+3470del XM_005251470.1:c.616+3465_616+3470del XM_005251470.1:c.616+3466_616+3470del XM_005251470.1:c.616+3467_616+3470del XM_005251470.1:c.616+3468_616+3470del XM_005251470.1:c.616+3469_616+3470del XM_005251470.1:c.616+3470del XM_005251470.1:c.616+3470dup XM_005251470.1:c.616+3469_616+3470dup
NFIB transcript variant X5 XM_005251471.1:c.-141+3470= XM_005251471.1:c.-141+3463_-141+3470del XM_005251471.1:c.-141+3465_-141+3470del XM_005251471.1:c.-141+3466_-141+3470del XM_005251471.1:c.-141+3467_-141+3470del XM_005251471.1:c.-141+3468_-141+3470del XM_005251471.1:c.-141+3469_-141+3470del XM_005251471.1:c.-141+3470del XM_005251471.1:c.-141+3470dup XM_005251471.1:c.-141+3469_-141+3470dup
NFIB transcript variant X6 XM_005251472.1:c.-141+3470= XM_005251472.1:c.-141+3463_-141+3470del XM_005251472.1:c.-141+3465_-141+3470del XM_005251472.1:c.-141+3466_-141+3470del XM_005251472.1:c.-141+3467_-141+3470del XM_005251472.1:c.-141+3468_-141+3470del XM_005251472.1:c.-141+3469_-141+3470del XM_005251472.1:c.-141+3470del XM_005251472.1:c.-141+3470dup XM_005251472.1:c.-141+3469_-141+3470dup
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#.

60 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80044094 Dec 15, 2007 (129)
2 HGSV ss80134780 Dec 15, 2007 (129)
3 HUMANGENOME_JCVI ss95511226 Dec 05, 2013 (138)
4 BCMHGSC_JDW ss103779468 Dec 01, 2009 (131)
5 GMI ss288948952 May 04, 2012 (137)
6 PJP ss295411125 May 09, 2011 (137)
7 PJP ss295411126 May 09, 2011 (135)
8 BILGI_BIOE ss666461506 Apr 25, 2013 (138)
9 1000GENOMES ss1368173470 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1706334769 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1706334883 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710414435 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710414591 Apr 01, 2015 (144)
14 SWEGEN ss3004431425 Nov 08, 2017 (151)
15 MCHAISSO ss3064327947 Nov 08, 2017 (151)
16 MCHAISSO ss3065217753 Nov 08, 2017 (151)
17 MCHAISSO ss3066239040 Nov 08, 2017 (151)
18 BIOINF_KMB_FNS_UNIBA ss3646137315 Oct 12, 2018 (152)
19 EVA_DECODE ss3723532923 Jul 13, 2019 (153)
20 EVA_DECODE ss3723532924 Jul 13, 2019 (153)
21 EVA_DECODE ss3723532925 Jul 13, 2019 (153)
22 ACPOP ss3736335680 Jul 13, 2019 (153)
23 ACPOP ss3736335681 Jul 13, 2019 (153)
24 PACBIO ss3786355928 Jul 13, 2019 (153)
25 PACBIO ss3786355929 Jul 13, 2019 (153)
26 PACBIO ss3791580841 Jul 13, 2019 (153)
27 PACBIO ss3796462498 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3812111362 Jul 13, 2019 (153)
29 EVA ss3831552589 Apr 26, 2020 (154)
30 KOGIC ss3965353184 Apr 26, 2020 (154)
31 KOGIC ss3965353185 Apr 26, 2020 (154)
32 KOGIC ss3965353186 Apr 26, 2020 (154)
33 KOGIC ss3965353187 Apr 26, 2020 (154)
34 GNOMAD ss4198066382 Apr 26, 2021 (155)
35 GNOMAD ss4198066383 Apr 26, 2021 (155)
36 GNOMAD ss4198066384 Apr 26, 2021 (155)
37 GNOMAD ss4198066385 Apr 26, 2021 (155)
38 GNOMAD ss4198066386 Apr 26, 2021 (155)
39 GNOMAD ss4198066387 Apr 26, 2021 (155)
40 GNOMAD ss4198066388 Apr 26, 2021 (155)
41 GNOMAD ss4198066389 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5192212456 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5192212457 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5192212458 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5192212459 Apr 26, 2021 (155)
46 1000G_HIGH_COVERAGE ss5279897132 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5279897133 Oct 16, 2022 (156)
48 1000G_HIGH_COVERAGE ss5279897134 Oct 16, 2022 (156)
49 1000G_HIGH_COVERAGE ss5279897135 Oct 16, 2022 (156)
50 HUGCELL_USP ss5476169005 Oct 16, 2022 (156)
51 HUGCELL_USP ss5476169006 Oct 16, 2022 (156)
52 HUGCELL_USP ss5476169007 Oct 16, 2022 (156)
53 HUGCELL_USP ss5476169008 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5735297064 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5735297065 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5735297066 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5735297067 Oct 16, 2022 (156)
58 EVA ss5828891221 Oct 16, 2022 (156)
59 EVA ss5828891222 Oct 16, 2022 (156)
60 EVA ss5915642731 Oct 16, 2022 (156)
61 1000Genomes NC_000009.11 - 14176256 Oct 12, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 25176692 (NC_000009.11:14176255:AAA: 687/3854)
Row 25176693 (NC_000009.11:14176256:A: 3167/3854)

- Oct 12, 2018 (152)
63 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 25176692 (NC_000009.11:14176255:AAA: 687/3854)
Row 25176693 (NC_000009.11:14176256:A: 3167/3854)

- Oct 12, 2018 (152)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 318960819 (NC_000009.12:14176256::A 549/120778)
Row 318960820 (NC_000009.12:14176256::AA 7/120782)
Row 318960821 (NC_000009.12:14176256:A: 6545/120586)...

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

Submission ignored due to conflicting rows:
Row 21731185 (NC_000009.12:14176256:AAA: 143/1822)
Row 21731186 (NC_000009.12:14176257:AA: 1032/1822)
Row 21731187 (NC_000009.12:14176258:A: 137/1822)...

- Apr 26, 2020 (154)
73 Korean Genome Project

Submission ignored due to conflicting rows:
Row 21731185 (NC_000009.12:14176256:AAA: 143/1822)
Row 21731186 (NC_000009.12:14176257:AA: 1032/1822)
Row 21731187 (NC_000009.12:14176258:A: 137/1822)...

- Apr 26, 2020 (154)
74 Korean Genome Project

Submission ignored due to conflicting rows:
Row 21731185 (NC_000009.12:14176256:AAA: 143/1822)
Row 21731186 (NC_000009.12:14176257:AA: 1032/1822)
Row 21731187 (NC_000009.12:14176258:A: 137/1822)...

- Apr 26, 2020 (154)
75 Korean Genome Project

Submission ignored due to conflicting rows:
Row 21731185 (NC_000009.12:14176256:AAA: 143/1822)
Row 21731186 (NC_000009.12:14176257:AA: 1032/1822)
Row 21731187 (NC_000009.12:14176258:A: 137/1822)...

- Apr 26, 2020 (154)
76 Northern Sweden

Submission ignored due to conflicting rows:
Row 9620545 (NC_000009.11:14176255:AA: 437/564)
Row 9620546 (NC_000009.11:14176255:AAA: 5/564)

- Jul 13, 2019 (153)
77 Northern Sweden

Submission ignored due to conflicting rows:
Row 9620545 (NC_000009.11:14176255:AA: 437/564)
Row 9620546 (NC_000009.11:14176255:AAA: 5/564)

- Jul 13, 2019 (153)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 50181763 (NC_000009.11:14176255:AA: 12286/16750)
Row 50181764 (NC_000009.11:14176255:AAA: 153/16750)
Row 50181765 (NC_000009.11:14176255::A 25/16750)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 50181763 (NC_000009.11:14176255:AA: 12286/16750)
Row 50181764 (NC_000009.11:14176255:AAA: 153/16750)
Row 50181765 (NC_000009.11:14176255::A 25/16750)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 50181763 (NC_000009.11:14176255:AA: 12286/16750)
Row 50181764 (NC_000009.11:14176255:AAA: 153/16750)
Row 50181765 (NC_000009.11:14176255::A 25/16750)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 50181763 (NC_000009.11:14176255:AA: 12286/16750)
Row 50181764 (NC_000009.11:14176255:AAA: 153/16750)
Row 50181765 (NC_000009.11:14176255::A 25/16750)...

- Apr 26, 2021 (155)
82 14KJPN

Submission ignored due to conflicting rows:
Row 69134168 (NC_000009.12:14176256:AA: 20970/28252)
Row 69134169 (NC_000009.12:14176256:AAA: 261/28252)
Row 69134170 (NC_000009.12:14176256::A 47/28252)...

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 69134168 (NC_000009.12:14176256:AA: 20970/28252)
Row 69134169 (NC_000009.12:14176256:AAA: 261/28252)
Row 69134170 (NC_000009.12:14176256::A 47/28252)...

- Oct 16, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 69134168 (NC_000009.12:14176256:AA: 20970/28252)
Row 69134169 (NC_000009.12:14176256:AAA: 261/28252)
Row 69134170 (NC_000009.12:14176256::A 47/28252)...

- Oct 16, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 69134168 (NC_000009.12:14176256:AA: 20970/28252)
Row 69134169 (NC_000009.12:14176256:AAA: 261/28252)
Row 69134170 (NC_000009.12:14176256::A 47/28252)...

- Oct 16, 2022 (156)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 25176692 (NC_000009.11:14176255:AAA: 659/3708)
Row 25176693 (NC_000009.11:14176256:A: 3049/3708)

- Oct 12, 2018 (152)
87 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 25176692 (NC_000009.11:14176255:AAA: 659/3708)
Row 25176693 (NC_000009.11:14176256:A: 3049/3708)

- Oct 12, 2018 (152)
88 ALFA NC_000009.12 - 14176257 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)
rs144036858 May 11, 2012 (137)
rs146441450 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4198066389 NC_000009.12:14176256:AAAAAAAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4198066388 NC_000009.12:14176256:AAAAAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4198066387 NC_000009.12:14176256:AAAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss1706334769, ss1706334883, ss3004431425, ss3736335681, ss3786355928, ss5192212457, ss5828891222 NC_000009.11:14176255:AAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3723532925, ss3965353184, ss4198066386, ss5279897135, ss5476169008, ss5735297065 NC_000009.12:14176256:AAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss103779468 NT_008413.18:14166271:AAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss288948952, ss295411125 NC_000009.10:14166255:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss295411126 NC_000009.10:14166272:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
45251378, ss666461506, ss1368173470, ss3736335680, ss3786355929, ss3791580841, ss3796462498, ss5192212456, ss5828891221 NC_000009.11:14176255:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710414435, ss1710414591 NC_000009.11:14176256:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3064327947, ss3065217753, ss3066239040, ss3646137315, ss3812111362, ss4198066385, ss5279897132, ss5476169005, ss5735297064, ss5915642731 NC_000009.12:14176256:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3723532924, ss3965353185 NC_000009.12:14176257:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss95511226 NT_008413.18:14166272:AA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss80044094, ss80134780 NC_000009.9:14166273:A: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3831552589, ss5192212459 NC_000009.11:14176255:A: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
NC_000009.11:14176256:A: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4198066384, ss5279897133, ss5476169006, ss5735297067 NC_000009.12:14176256:A: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3723532923, ss3965353186 NC_000009.12:14176258:A: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5192212458 NC_000009.11:14176255::A NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4198066382, ss5279897134, ss5476169007, ss5735297066 NC_000009.12:14176256::A NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3965353187 NC_000009.12:14176259::A NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4198066383 NC_000009.12:14176256::AA NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
11247838042 NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3582799393 NC_000009.12:14176256:AAAAA: NC_000009.12:14176256:AAAAAAAAAAAA…

NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

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 rs58705977

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