Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs35035214

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:132947413-132947430 (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)11 / del(A)9 / del(A)8 / del…

del(A)11 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)9 / dup(A)11 / dup(A)12 / dup(A)13

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.4776 (2392/5008, 1000G)
del(A)11=0.0000 (0/4006, ALFA)
del(A)9=0.0000 (0/4006, ALFA) (+ 11 more)
del(A)8=0.0000 (0/4006, ALFA)
del(A)7=0.0000 (0/4006, ALFA)
del(A)6=0.0000 (0/4006, ALFA)
del(A)5=0.0000 (0/4006, ALFA)
del(A)4=0.0000 (0/4006, ALFA)
delAAA=0.0000 (0/4006, ALFA)
delAA=0.0000 (0/4006, ALFA)
delA=0.0000 (0/4006, ALFA)
dupA=0.0000 (0/4006, ALFA)
dupAA=0.0000 (0/4006, ALFA)
dupAAA=0.0000 (0/4006, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GFI1B : 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 4006 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1904 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1716 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1648 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 58 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 160 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 22 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 142 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=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
1000Genomes Global Study-wide 5008 (A)18=0.5224 delA=0.4776
1000Genomes African Sub 1322 (A)18=0.7897 delA=0.2103
1000Genomes East Asian Sub 1008 (A)18=0.4177 delA=0.5823
1000Genomes Europe Sub 1006 (A)18=0.4245 delA=0.5755
1000Genomes South Asian Sub 978 (A)18=0.381 delA=0.619
1000Genomes American Sub 694 (A)18=0.506 delA=0.494
Allele Frequency Aggregator Total Global 4006 (A)18=1.0000 del(A)11=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 1904 (A)18=1.0000 del(A)11=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 1716 (A)18=1.0000 del(A)11=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 160 (A)18=1.000 del(A)11=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=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, dupAAA=0.000
Allele Frequency Aggregator Other Sub 142 (A)18=1.000 del(A)11=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=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, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 58 (A)18=1.00 del(A)11=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=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, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 22 (A)18=1.00 del(A)11=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=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, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 4 (A)18=1.0 del(A)11=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=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, dupAAA=0.0
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.132947420_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947422_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947423_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947424_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947425_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947426_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947427_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947428_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947429_132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947430del
GRCh38.p14 chr 9 NC_000009.12:g.132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947429_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947428_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947427_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947426_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947425_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947422_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947420_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947419_132947430dup
GRCh38.p14 chr 9 NC_000009.12:g.132947418_132947430dup
GRCh37.p13 chr 9 NC_000009.11:g.135822807_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822809_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822810_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822811_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822812_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822813_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822814_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822815_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822816_135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822817del
GRCh37.p13 chr 9 NC_000009.11:g.135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822816_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822815_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822814_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822813_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822812_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822809_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822807_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822806_135822817dup
GRCh37.p13 chr 9 NC_000009.11:g.135822805_135822817dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2211_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2213_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2214_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2215_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2216_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2217_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2218_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2219_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2220_2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2221del
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2220_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2219_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2218_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2217_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2216_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2213_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2211_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2210_2221dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2209_2221dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6876_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6878_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6879_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6880_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6881_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6882_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6883_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6884_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6885_6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6886del
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6885_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6884_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6883_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6882_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6881_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6878_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6876_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6875_6886dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6874_6886dup
Gene: GFI1B, growth factor independent 1B transcriptional repressor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GFI1B transcript variant 1 NM_004188.8:c.-701+1751_-…

NM_004188.8:c.-701+1751_-701+1761del

N/A Intron Variant
GFI1B transcript variant 2 NM_001135031.2:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant 3 NM_001371908.1:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant 4 NM_001377304.1:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant 5 NM_001377305.1:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant X2 XM_006717297.4:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant X3 XM_047423942.1:c. N/A Genic Upstream Transcript Variant
GFI1B transcript variant X1 XR_007061360.1:n. N/A Genic Upstream Transcript 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)18= del(A)11 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)9 dup(A)11 dup(A)12 dup(A)13
GRCh38.p14 chr 9 NC_000009.12:g.132947413_132947430= NC_000009.12:g.132947420_132947430del NC_000009.12:g.132947422_132947430del NC_000009.12:g.132947423_132947430del NC_000009.12:g.132947424_132947430del NC_000009.12:g.132947425_132947430del NC_000009.12:g.132947426_132947430del NC_000009.12:g.132947427_132947430del NC_000009.12:g.132947428_132947430del NC_000009.12:g.132947429_132947430del NC_000009.12:g.132947430del NC_000009.12:g.132947430dup NC_000009.12:g.132947429_132947430dup NC_000009.12:g.132947428_132947430dup NC_000009.12:g.132947427_132947430dup NC_000009.12:g.132947426_132947430dup NC_000009.12:g.132947425_132947430dup NC_000009.12:g.132947422_132947430dup NC_000009.12:g.132947420_132947430dup NC_000009.12:g.132947419_132947430dup NC_000009.12:g.132947418_132947430dup
GRCh37.p13 chr 9 NC_000009.11:g.135822800_135822817= NC_000009.11:g.135822807_135822817del NC_000009.11:g.135822809_135822817del NC_000009.11:g.135822810_135822817del NC_000009.11:g.135822811_135822817del NC_000009.11:g.135822812_135822817del NC_000009.11:g.135822813_135822817del NC_000009.11:g.135822814_135822817del NC_000009.11:g.135822815_135822817del NC_000009.11:g.135822816_135822817del NC_000009.11:g.135822817del NC_000009.11:g.135822817dup NC_000009.11:g.135822816_135822817dup NC_000009.11:g.135822815_135822817dup NC_000009.11:g.135822814_135822817dup NC_000009.11:g.135822813_135822817dup NC_000009.11:g.135822812_135822817dup NC_000009.11:g.135822809_135822817dup NC_000009.11:g.135822807_135822817dup NC_000009.11:g.135822806_135822817dup NC_000009.11:g.135822805_135822817dup
TSC1 RefSeqGene (LRG_486) NG_012386.1:g.2204_2221= NG_012386.1:g.2211_2221del NG_012386.1:g.2213_2221del NG_012386.1:g.2214_2221del NG_012386.1:g.2215_2221del NG_012386.1:g.2216_2221del NG_012386.1:g.2217_2221del NG_012386.1:g.2218_2221del NG_012386.1:g.2219_2221del NG_012386.1:g.2220_2221del NG_012386.1:g.2221del NG_012386.1:g.2221dup NG_012386.1:g.2220_2221dup NG_012386.1:g.2219_2221dup NG_012386.1:g.2218_2221dup NG_012386.1:g.2217_2221dup NG_012386.1:g.2216_2221dup NG_012386.1:g.2213_2221dup NG_012386.1:g.2211_2221dup NG_012386.1:g.2210_2221dup NG_012386.1:g.2209_2221dup
GFI1B RefSeqGene (LRG_879) NG_034227.1:g.6869_6886= NG_034227.1:g.6876_6886del NG_034227.1:g.6878_6886del NG_034227.1:g.6879_6886del NG_034227.1:g.6880_6886del NG_034227.1:g.6881_6886del NG_034227.1:g.6882_6886del NG_034227.1:g.6883_6886del NG_034227.1:g.6884_6886del NG_034227.1:g.6885_6886del NG_034227.1:g.6886del NG_034227.1:g.6886dup NG_034227.1:g.6885_6886dup NG_034227.1:g.6884_6886dup NG_034227.1:g.6883_6886dup NG_034227.1:g.6882_6886dup NG_034227.1:g.6881_6886dup NG_034227.1:g.6878_6886dup NG_034227.1:g.6876_6886dup NG_034227.1:g.6875_6886dup NG_034227.1:g.6874_6886dup
GFI1B transcript variant 1 NM_004188.8:c.-701+1744= NM_004188.8:c.-701+1751_-701+1761del NM_004188.8:c.-701+1753_-701+1761del NM_004188.8:c.-701+1754_-701+1761del NM_004188.8:c.-701+1755_-701+1761del NM_004188.8:c.-701+1756_-701+1761del NM_004188.8:c.-701+1757_-701+1761del NM_004188.8:c.-701+1758_-701+1761del NM_004188.8:c.-701+1759_-701+1761del NM_004188.8:c.-701+1760_-701+1761del NM_004188.8:c.-701+1761del NM_004188.8:c.-701+1761dup NM_004188.8:c.-701+1760_-701+1761dup NM_004188.8:c.-701+1759_-701+1761dup NM_004188.8:c.-701+1758_-701+1761dup NM_004188.8:c.-701+1757_-701+1761dup NM_004188.8:c.-701+1756_-701+1761dup NM_004188.8:c.-701+1753_-701+1761dup NM_004188.8:c.-701+1751_-701+1761dup NM_004188.8:c.-701+1750_-701+1761dup NM_004188.8:c.-701+1749_-701+1761dup
GFI1B transcript variant X1 XM_005272221.1:c.-701+1744= XM_005272221.1:c.-701+1751_-701+1761del XM_005272221.1:c.-701+1753_-701+1761del XM_005272221.1:c.-701+1754_-701+1761del XM_005272221.1:c.-701+1755_-701+1761del XM_005272221.1:c.-701+1756_-701+1761del XM_005272221.1:c.-701+1757_-701+1761del XM_005272221.1:c.-701+1758_-701+1761del XM_005272221.1:c.-701+1759_-701+1761del XM_005272221.1:c.-701+1760_-701+1761del XM_005272221.1:c.-701+1761del XM_005272221.1:c.-701+1761dup XM_005272221.1:c.-701+1760_-701+1761dup XM_005272221.1:c.-701+1759_-701+1761dup XM_005272221.1:c.-701+1758_-701+1761dup XM_005272221.1:c.-701+1757_-701+1761dup XM_005272221.1:c.-701+1756_-701+1761dup XM_005272221.1:c.-701+1753_-701+1761dup XM_005272221.1:c.-701+1751_-701+1761dup XM_005272221.1:c.-701+1750_-701+1761dup XM_005272221.1:c.-701+1749_-701+1761dup
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#.

56 SubSNP, 34 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43370333 Mar 14, 2006 (126)
2 PJP ss295442881 May 09, 2011 (134)
3 SSMP ss663904679 Apr 01, 2015 (144)
4 BILGI_BIOE ss666485468 Apr 25, 2013 (138)
5 1000GENOMES ss1368878791 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1706586543 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1706586621 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710446550 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710446552 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710446594 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710446596 Apr 01, 2015 (144)
12 SWEGEN ss3005703757 Nov 08, 2017 (151)
13 URBANLAB ss3649253594 Oct 12, 2018 (152)
14 EVA_DECODE ss3724891031 Jul 13, 2019 (153)
15 EVA_DECODE ss3724891032 Jul 13, 2019 (153)
16 EVA_DECODE ss3724891033 Jul 13, 2019 (153)
17 EVA_DECODE ss3724891034 Jul 13, 2019 (153)
18 EVA_DECODE ss3724891035 Jul 13, 2019 (153)
19 EVA_DECODE ss3724891036 Jul 13, 2019 (153)
20 PACBIO ss3786541378 Jul 13, 2019 (153)
21 PACBIO ss3796618517 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3812935596 Jul 13, 2019 (153)
23 EVA ss3831893412 Apr 26, 2020 (154)
24 GNOMAD ss4210621309 Apr 26, 2021 (155)
25 GNOMAD ss4210621310 Apr 26, 2021 (155)
26 GNOMAD ss4210621311 Apr 26, 2021 (155)
27 GNOMAD ss4210621312 Apr 26, 2021 (155)
28 GNOMAD ss4210621313 Apr 26, 2021 (155)
29 GNOMAD ss4210621314 Apr 26, 2021 (155)
30 GNOMAD ss4210621315 Apr 26, 2021 (155)
31 GNOMAD ss4210621316 Apr 26, 2021 (155)
32 GNOMAD ss4210621317 Apr 26, 2021 (155)
33 GNOMAD ss4210621318 Apr 26, 2021 (155)
34 GNOMAD ss4210621320 Apr 26, 2021 (155)
35 GNOMAD ss4210621321 Apr 26, 2021 (155)
36 GNOMAD ss4210621322 Apr 26, 2021 (155)
37 GNOMAD ss4210621323 Apr 26, 2021 (155)
38 GNOMAD ss4210621324 Apr 26, 2021 (155)
39 GNOMAD ss4210621325 Apr 26, 2021 (155)
40 GNOMAD ss4210621326 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5195620006 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5195620007 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5195620008 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5195620009 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5195620010 Apr 26, 2021 (155)
46 1000G_HIGH_COVERAGE ss5282420501 Oct 16, 2022 (156)
47 HUGCELL_USP ss5478263775 Oct 16, 2022 (156)
48 HUGCELL_USP ss5478263776 Oct 16, 2022 (156)
49 HUGCELL_USP ss5478263777 Oct 16, 2022 (156)
50 HUGCELL_USP ss5478263778 Oct 16, 2022 (156)
51 HUGCELL_USP ss5478263779 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5740257051 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5740257052 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5740257053 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5740257054 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5740257055 Oct 16, 2022 (156)
57 1000Genomes NC_000009.11 - 135822800 Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 26708811 (NC_000009.11:135822800:AAAAA: 501/3854)
Row 26708813 (NC_000009.11:135822799:AAAAAAA: 359/3854)

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

Submission ignored due to conflicting rows:
Row 26708811 (NC_000009.11:135822800:AAAAA: 501/3854)
Row 26708813 (NC_000009.11:135822799:AAAAAAA: 359/3854)

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

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

Submission ignored due to conflicting rows:
Row 339630149 (NC_000009.12:132947412::A 5388/86794)
Row 339630150 (NC_000009.12:132947412::AA 2499/86790)
Row 339630151 (NC_000009.12:132947412::AAA 9/86920)...

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 53589313 (NC_000009.11:135822799:A: 7346/16008)
Row 53589314 (NC_000009.11:135822799::A 2501/16008)
Row 53589315 (NC_000009.11:135822799:AA: 134/16008)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 53589313 (NC_000009.11:135822799:A: 7346/16008)
Row 53589314 (NC_000009.11:135822799::A 2501/16008)
Row 53589315 (NC_000009.11:135822799:AA: 134/16008)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 53589313 (NC_000009.11:135822799:A: 7346/16008)
Row 53589314 (NC_000009.11:135822799::A 2501/16008)
Row 53589315 (NC_000009.11:135822799:AA: 134/16008)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 53589313 (NC_000009.11:135822799:A: 7346/16008)
Row 53589314 (NC_000009.11:135822799::A 2501/16008)
Row 53589315 (NC_000009.11:135822799:AA: 134/16008)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 53589313 (NC_000009.11:135822799:A: 7346/16008)
Row 53589314 (NC_000009.11:135822799::A 2501/16008)
Row 53589315 (NC_000009.11:135822799:AA: 134/16008)...

- Apr 26, 2021 (155)
82 14KJPN

Submission ignored due to conflicting rows:
Row 74094155 (NC_000009.12:132947412:A: 13384/28060)
Row 74094156 (NC_000009.12:132947412:AA: 242/28060)
Row 74094157 (NC_000009.12:132947412::A 4874/28060)...

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 74094155 (NC_000009.12:132947412:A: 13384/28060)
Row 74094156 (NC_000009.12:132947412:AA: 242/28060)
Row 74094157 (NC_000009.12:132947412::A 4874/28060)...

- Oct 16, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 74094155 (NC_000009.12:132947412:A: 13384/28060)
Row 74094156 (NC_000009.12:132947412:AA: 242/28060)
Row 74094157 (NC_000009.12:132947412::A 4874/28060)...

- Oct 16, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 74094155 (NC_000009.12:132947412:A: 13384/28060)
Row 74094156 (NC_000009.12:132947412:AA: 242/28060)
Row 74094157 (NC_000009.12:132947412::A 4874/28060)...

- Oct 16, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 74094155 (NC_000009.12:132947412:A: 13384/28060)
Row 74094156 (NC_000009.12:132947412:AA: 242/28060)
Row 74094157 (NC_000009.12:132947412::A 4874/28060)...

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

Submission ignored due to conflicting rows:
Row 26708811 (NC_000009.11:135822800:AAAAA: 475/3708)
Row 26708813 (NC_000009.11:135822799:AAAAAAA: 376/3708)

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

Submission ignored due to conflicting rows:
Row 26708811 (NC_000009.11:135822800:AAAAAA: 475/3708)
Row 26708812 (NC_000009.11:135822805:A: 2165/3708)
Row 26708813 (NC_000009.11:135822799:AAAAAAA: 376/3708)

- Apr 26, 2020 (154)
89 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 26708811 (NC_000009.11:135822800:AAAAA: 475/3708)
Row 26708813 (NC_000009.11:135822799:AAAAAAA: 376/3708)

- Oct 12, 2018 (152)
90 ALFA NC_000009.12 - 132947413 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)
rs71932963 May 11, 2012 (137)
rs370106992 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
ss3005703757 NC_000009.11:135822799:AAAAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4210621326 NC_000009.12:132947412:AAAAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss1706586543, ss1706586621 NC_000009.11:135822799:AAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4210621325 NC_000009.12:132947412:AAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss1710446550, ss1710446594 NC_000009.11:135822800:AAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3724891036 NC_000009.12:132947412:AAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
NC_000009.11:135822800:AAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4210621324 NC_000009.12:132947412:AAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3724891035 NC_000009.12:132947413:AAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5195620009 NC_000009.11:135822799:AAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4210621323, ss5740257054 NC_000009.12:132947412:AAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4210621322, ss5478263778 NC_000009.12:132947412:AAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3786541378, ss5195620008 NC_000009.11:135822799:AA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4210621321, ss5478263776, ss5740257052 NC_000009.12:132947412:AA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3724891034 NC_000009.12:132947416:AA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss295442881 NC_000009.10:134812620:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
48054302, ss663904679, ss666485468, ss1368878791, ss3796618517, ss3831893412, ss5195620006 NC_000009.11:135822799:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710446552, ss1710446596 NC_000009.11:135822805:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3649253594, ss3812935596, ss4210621320, ss5478263775, ss5740257051 NC_000009.12:132947412:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3724891033 NC_000009.12:132947417:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss43370333 NT_035014.4:2599739:A: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5195620007 NC_000009.11:135822799::A NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4210621309, ss5282420501, ss5478263777, ss5740257053 NC_000009.12:132947412::A NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3724891032 NC_000009.12:132947418::A NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5195620010 NC_000009.11:135822799::AA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4210621310, ss5478263779, ss5740257055 NC_000009.12:132947412::AA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4210621311 NC_000009.12:132947412::AAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
8722461656 NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3724891031 NC_000009.12:132947418::AAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621312 NC_000009.12:132947412::AAAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621313 NC_000009.12:132947412::AAAAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621314 NC_000009.12:132947412::AAAAAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621315 NC_000009.12:132947412::AAAAAAAAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621316 NC_000009.12:132947412::AAAAAAAAAAA NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621317 NC_000009.12:132947412::AAAAAAAAAA…

NC_000009.12:132947412::AAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4210621318 NC_000009.12:132947412::AAAAAAAAAA…

NC_000009.12:132947412::AAAAAAAAAAAAA

NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3602363455 NC_000009.12:132947412:AAAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

ss3602363457 NC_000009.12:132947412:AAAAAAAAAAA: NC_000009.12:132947412:AAAAAAAAAAA…

NC_000009.12:132947412:AAAAAAAAAAAAAAAAAA:AAAAAAA

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 rs35035214

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