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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.

rs7033854

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:604735 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.332559 (88025/264690, TOPMED)
T=0.350397 (48879/139496, GnomAD)
T=0.11243 (3177/28258, 14KJPN) (+ 16 more)
T=0.41276 (7797/18890, ALFA)
T=0.11169 (1872/16760, 8.3KJPN)
T=0.2956 (1893/6404, 1000G_30x)
T=0.3013 (1509/5008, 1000G)
C=0.4958 (2221/4480, Estonian)
T=0.4543 (1751/3854, ALSPAC)
T=0.4628 (1716/3708, TWINSUK)
T=0.1283 (375/2922, KOREAN)
T=0.1245 (228/1832, Korea1K)
T=0.483 (482/998, GoNL)
T=0.455 (273/600, NorthernSweden)
C=0.358 (83/232, SGDP_PRJ)
C=0.477 (103/216, Qatari)
T=0.074 (16/216, Vietnamese)
T=0.47 (19/40, GENOME_DK)
C=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KANK1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 C=0.58724 T=0.41276
European Sub 14286 C=0.52625 T=0.47375
African Sub 2946 C=0.8306 T=0.1694
African Others Sub 114 C=0.921 T=0.079
African American Sub 2832 C=0.8270 T=0.1730
Asian Sub 112 C=0.902 T=0.098
East Asian Sub 86 C=0.88 T=0.12
Other Asian Sub 26 C=0.96 T=0.04
Latin American 1 Sub 146 C=0.616 T=0.384
Latin American 2 Sub 610 C=0.743 T=0.257
South Asian Sub 98 C=0.41 T=0.59
Other Sub 692 C=0.642 T=0.358


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=0.667441 T=0.332559
gnomAD - Genomes Global Study-wide 139496 C=0.649603 T=0.350397
gnomAD - Genomes European Sub 75802 C=0.54287 T=0.45713
gnomAD - Genomes African Sub 41472 C=0.81706 T=0.18294
gnomAD - Genomes American Sub 13630 C=0.70154 T=0.29846
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.5488 T=0.4512
gnomAD - Genomes East Asian Sub 3126 C=0.9082 T=0.0918
gnomAD - Genomes Other Sub 2144 C=0.6329 T=0.3671
14KJPN JAPANESE Study-wide 28258 C=0.88757 T=0.11243
Allele Frequency Aggregator Total Global 18890 C=0.58724 T=0.41276
Allele Frequency Aggregator European Sub 14286 C=0.52625 T=0.47375
Allele Frequency Aggregator African Sub 2946 C=0.8306 T=0.1694
Allele Frequency Aggregator Other Sub 692 C=0.642 T=0.358
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.743 T=0.257
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.616 T=0.384
Allele Frequency Aggregator Asian Sub 112 C=0.902 T=0.098
Allele Frequency Aggregator South Asian Sub 98 C=0.41 T=0.59
8.3KJPN JAPANESE Study-wide 16760 C=0.88831 T=0.11169
1000Genomes_30x Global Study-wide 6404 C=0.7044 T=0.2956
1000Genomes_30x African Sub 1786 C=0.8628 T=0.1372
1000Genomes_30x Europe Sub 1266 C=0.5300 T=0.4700
1000Genomes_30x South Asian Sub 1202 C=0.4343 T=0.5657
1000Genomes_30x East Asian Sub 1170 C=0.9068 T=0.0932
1000Genomes_30x American Sub 980 C=0.731 T=0.269
1000Genomes Global Study-wide 5008 C=0.6987 T=0.3013
1000Genomes African Sub 1322 C=0.8578 T=0.1422
1000Genomes East Asian Sub 1008 C=0.9058 T=0.0942
1000Genomes Europe Sub 1006 C=0.5249 T=0.4751
1000Genomes South Asian Sub 978 C=0.429 T=0.571
1000Genomes American Sub 694 C=0.726 T=0.274
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4958 T=0.5042
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5457 T=0.4543
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5372 T=0.4628
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8717 T=0.1283
Korean Genome Project KOREAN Study-wide 1832 C=0.8755 T=0.1245
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.517 T=0.483
Northern Sweden ACPOP Study-wide 600 C=0.545 T=0.455
SGDP_PRJ Global Study-wide 232 C=0.358 T=0.642
Qatari Global Study-wide 216 C=0.477 T=0.523
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.926 T=0.074
The Danish reference pan genome Danish Study-wide 40 C=0.53 T=0.47
Siberian Global Study-wide 30 C=0.37 T=0.63
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.604735C>T
GRCh37.p13 chr 9 NC_000009.11:g.604735C>T
KANK1 RefSeqGene NG_016331.2:g.139442C>T
Gene: KANK1, KN motif and ankyrin repeat domains 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KANK1 transcript variant 3 NM_001256876.3:c.-84+6406…

NM_001256876.3:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant 4 NM_001256877.3:c.-84+5501…

NM_001256877.3:c.-84+55014C>T

N/A Intron Variant
KANK1 transcript variant 5 NM_001354331.2:c.-83-7215…

NM_001354331.2:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant 6 NM_001354332.2:c.-83-7215…

NM_001354332.2:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant 7 NM_001354333.2:c.-590-721…

NM_001354333.2:c.-590-72155C>T

N/A Intron Variant
KANK1 transcript variant 8 NM_001354334.2:c.-84+6406…

NM_001354334.2:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant 1 NM_015158.5:c.-83-72155C>T N/A Intron Variant
KANK1 transcript variant 9 NM_001354335.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 10 NM_001354336.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 11 NM_001354337.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 12 NM_001354338.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 13 NM_001354339.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 14 NM_001354340.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 15 NM_001354341.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 16 NM_001354342.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 17 NM_001354343.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 18 NM_001354344.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 2 NM_153186.6:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant 19 NR_148869.2:n. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X21 XM_024447463.2:c.-84+1065…

XM_024447463.2:c.-84+10655C>T

N/A Intron Variant
KANK1 transcript variant X3 XM_024447465.2:c.-83-7215…

XM_024447465.2:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X8 XM_024447466.2:c.-84+5739…

XM_024447466.2:c.-84+57394C>T

N/A Intron Variant
KANK1 transcript variant X1 XM_047423040.1:c.-83-7215…

XM_047423040.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X2 XM_047423041.1:c.-173-674…

XM_047423041.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X4 XM_047423042.1:c.-83-7215…

XM_047423042.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X5 XM_047423043.1:c.-83-7215…

XM_047423043.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X6 XM_047423044.1:c.-83-7215…

XM_047423044.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X7 XM_047423045.1:c.-173-674…

XM_047423045.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X11 XM_047423047.1:c.-83-7215…

XM_047423047.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X12 XM_047423048.1:c.-84+6406…

XM_047423048.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X13 XM_047423049.1:c.-84+6406…

XM_047423049.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X14 XM_047423050.1:c.-84+6406…

XM_047423050.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X15 XM_047423051.1:c.-84+6406…

XM_047423051.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X16 XM_047423052.1:c.-84+6406…

XM_047423052.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X17 XM_047423053.1:c.-84+6406…

XM_047423053.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X18 XM_047423054.1:c.-84+6406…

XM_047423054.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X19 XM_047423055.1:c.-173-674…

XM_047423055.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X20 XM_047423056.1:c.-84+1065…

XM_047423056.1:c.-84+10655C>T

N/A Intron Variant
KANK1 transcript variant X22 XM_047423057.1:c.-83-7215…

XM_047423057.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X23 XM_047423058.1:c.-84+6406…

XM_047423058.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X24 XM_047423059.1:c.-83-7215…

XM_047423059.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X25 XM_047423060.1:c.-173-674…

XM_047423060.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X26 XM_047423061.1:c.-84+6406…

XM_047423061.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X27 XM_047423062.1:c.-83-7215…

XM_047423062.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X30 XM_047423065.1:c.-84+6406…

XM_047423065.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X31 XM_047423066.1:c.-83-7215…

XM_047423066.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X32 XM_047423067.1:c.-173-674…

XM_047423067.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X33 XM_047423068.1:c.-84+6406…

XM_047423068.1:c.-84+64068C>T

N/A Intron Variant
KANK1 transcript variant X34 XM_047423069.1:c.-83-7215…

XM_047423069.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X36 XM_047423071.1:c.-83-7215…

XM_047423071.1:c.-83-72155C>T

N/A Intron Variant
KANK1 transcript variant X38 XM_047423073.1:c.-173-674…

XM_047423073.1:c.-173-6741C>T

N/A Intron Variant
KANK1 transcript variant X9 XM_024447467.2:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X10 XM_047423046.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X28 XM_047423063.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X29 XM_047423064.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X35 XM_047423070.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X37 XM_047423072.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X39 XM_047423074.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X40 XM_047423075.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X41 XM_047423076.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X42 XM_047423077.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X43 XM_047423078.1:c. N/A Genic Upstream Transcript Variant
KANK1 transcript variant X44 XM_047423079.1:c. 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 C= T
GRCh38.p14 chr 9 NC_000009.12:g.604735= NC_000009.12:g.604735C>T
GRCh37.p13 chr 9 NC_000009.11:g.604735= NC_000009.11:g.604735C>T
KANK1 RefSeqGene NG_016331.2:g.139442= NG_016331.2:g.139442C>T
KANK1 transcript variant 3 NM_001256876.1:c.-84+64068= NM_001256876.1:c.-84+64068C>T
KANK1 transcript variant 3 NM_001256876.3:c.-84+64068= NM_001256876.3:c.-84+64068C>T
KANK1 transcript variant 4 NM_001256877.1:c.-84+55014= NM_001256877.1:c.-84+55014C>T
KANK1 transcript variant 4 NM_001256877.3:c.-84+55014= NM_001256877.3:c.-84+55014C>T
KANK1 transcript variant 5 NM_001354331.2:c.-83-72155= NM_001354331.2:c.-83-72155C>T
KANK1 transcript variant 6 NM_001354332.2:c.-83-72155= NM_001354332.2:c.-83-72155C>T
KANK1 transcript variant 7 NM_001354333.2:c.-590-72155= NM_001354333.2:c.-590-72155C>T
KANK1 transcript variant 8 NM_001354334.2:c.-84+64068= NM_001354334.2:c.-84+64068C>T
KANK1 transcript variant 1 NM_015158.3:c.-83-72155= NM_015158.3:c.-83-72155C>T
KANK1 transcript variant 1 NM_015158.5:c.-83-72155= NM_015158.5:c.-83-72155C>T
KANK1 transcript variant X1 XM_005251410.1:c.-84+10655= XM_005251410.1:c.-84+10655C>T
KANK1 transcript variant X2 XM_005251411.1:c.-83-72155= XM_005251411.1:c.-83-72155C>T
KANK1 transcript variant X3 XM_005251412.1:c.-84+57394= XM_005251412.1:c.-84+57394C>T
KANK1 transcript variant X4 XM_005251413.1:c.-84+10655= XM_005251413.1:c.-84+10655C>T
KANK1 transcript variant X21 XM_024447463.2:c.-84+10655= XM_024447463.2:c.-84+10655C>T
KANK1 transcript variant X3 XM_024447465.2:c.-83-72155= XM_024447465.2:c.-83-72155C>T
KANK1 transcript variant X8 XM_024447466.2:c.-84+57394= XM_024447466.2:c.-84+57394C>T
KANK1 transcript variant X1 XM_047423040.1:c.-83-72155= XM_047423040.1:c.-83-72155C>T
KANK1 transcript variant X2 XM_047423041.1:c.-173-6741= XM_047423041.1:c.-173-6741C>T
KANK1 transcript variant X4 XM_047423042.1:c.-83-72155= XM_047423042.1:c.-83-72155C>T
KANK1 transcript variant X5 XM_047423043.1:c.-83-72155= XM_047423043.1:c.-83-72155C>T
KANK1 transcript variant X6 XM_047423044.1:c.-83-72155= XM_047423044.1:c.-83-72155C>T
KANK1 transcript variant X7 XM_047423045.1:c.-173-6741= XM_047423045.1:c.-173-6741C>T
KANK1 transcript variant X11 XM_047423047.1:c.-83-72155= XM_047423047.1:c.-83-72155C>T
KANK1 transcript variant X12 XM_047423048.1:c.-84+64068= XM_047423048.1:c.-84+64068C>T
KANK1 transcript variant X13 XM_047423049.1:c.-84+64068= XM_047423049.1:c.-84+64068C>T
KANK1 transcript variant X14 XM_047423050.1:c.-84+64068= XM_047423050.1:c.-84+64068C>T
KANK1 transcript variant X15 XM_047423051.1:c.-84+64068= XM_047423051.1:c.-84+64068C>T
KANK1 transcript variant X16 XM_047423052.1:c.-84+64068= XM_047423052.1:c.-84+64068C>T
KANK1 transcript variant X17 XM_047423053.1:c.-84+64068= XM_047423053.1:c.-84+64068C>T
KANK1 transcript variant X18 XM_047423054.1:c.-84+64068= XM_047423054.1:c.-84+64068C>T
KANK1 transcript variant X19 XM_047423055.1:c.-173-6741= XM_047423055.1:c.-173-6741C>T
KANK1 transcript variant X20 XM_047423056.1:c.-84+10655= XM_047423056.1:c.-84+10655C>T
KANK1 transcript variant X22 XM_047423057.1:c.-83-72155= XM_047423057.1:c.-83-72155C>T
KANK1 transcript variant X23 XM_047423058.1:c.-84+64068= XM_047423058.1:c.-84+64068C>T
KANK1 transcript variant X24 XM_047423059.1:c.-83-72155= XM_047423059.1:c.-83-72155C>T
KANK1 transcript variant X25 XM_047423060.1:c.-173-6741= XM_047423060.1:c.-173-6741C>T
KANK1 transcript variant X26 XM_047423061.1:c.-84+64068= XM_047423061.1:c.-84+64068C>T
KANK1 transcript variant X27 XM_047423062.1:c.-83-72155= XM_047423062.1:c.-83-72155C>T
KANK1 transcript variant X30 XM_047423065.1:c.-84+64068= XM_047423065.1:c.-84+64068C>T
KANK1 transcript variant X31 XM_047423066.1:c.-83-72155= XM_047423066.1:c.-83-72155C>T
KANK1 transcript variant X32 XM_047423067.1:c.-173-6741= XM_047423067.1:c.-173-6741C>T
KANK1 transcript variant X33 XM_047423068.1:c.-84+64068= XM_047423068.1:c.-84+64068C>T
KANK1 transcript variant X34 XM_047423069.1:c.-83-72155= XM_047423069.1:c.-83-72155C>T
KANK1 transcript variant X36 XM_047423071.1:c.-83-72155= XM_047423071.1:c.-83-72155C>T
KANK1 transcript variant X38 XM_047423073.1:c.-173-6741= XM_047423073.1:c.-173-6741C>T
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#.

59 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10518101 Jul 11, 2003 (116)
2 SC_SNP ss15542865 Feb 27, 2004 (120)
3 SSAHASNP ss22782903 Apr 05, 2004 (121)
4 ABI ss43354160 Mar 14, 2006 (126)
5 HUMANGENOME_JCVI ss97699857 Feb 05, 2009 (130)
6 ENSEMBL ss134122756 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss165995061 Jul 04, 2010 (132)
8 BCM-HGSC-SUB ss206882527 Jul 04, 2010 (132)
9 1000GENOMES ss224064181 Jul 14, 2010 (132)
10 1000GENOMES ss234686232 Jul 15, 2010 (132)
11 1000GENOMES ss241487805 Jul 15, 2010 (132)
12 BL ss253975516 May 09, 2011 (134)
13 GMI ss280062504 May 04, 2012 (137)
14 PJP ss294266774 May 09, 2011 (134)
15 TISHKOFF ss561168170 Apr 25, 2013 (138)
16 SSMP ss655600077 Apr 25, 2013 (138)
17 EVA-GONL ss986205344 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1076028434 Aug 21, 2014 (142)
19 1000GENOMES ss1332490794 Aug 21, 2014 (142)
20 DDI ss1431717307 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1582944398 Apr 01, 2015 (144)
22 EVA_DECODE ss1595828253 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1622038313 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1665032346 Apr 01, 2015 (144)
25 WEILL_CORNELL_DGM ss1929483625 Feb 12, 2016 (147)
26 JJLAB ss2025447941 Sep 14, 2016 (149)
27 USC_VALOUEV ss2153679572 Dec 20, 2016 (150)
28 HUMAN_LONGEVITY ss2308561705 Dec 20, 2016 (150)
29 GRF ss2709472917 Nov 08, 2017 (151)
30 GNOMAD ss2874303153 Nov 08, 2017 (151)
31 SWEGEN ss3004229678 Nov 08, 2017 (151)
32 BIOINF_KMB_FNS_UNIBA ss3026511810 Nov 08, 2017 (151)
33 CSHL ss3348475898 Nov 08, 2017 (151)
34 URBANLAB ss3649049151 Oct 12, 2018 (152)
35 EGCUT_WGS ss3671956821 Jul 13, 2019 (153)
36 EVA_DECODE ss3723288509 Jul 13, 2019 (153)
37 ACPOP ss3736224614 Jul 13, 2019 (153)
38 EVA ss3768790850 Jul 13, 2019 (153)
39 KHV_HUMAN_GENOMES ss3811949324 Jul 13, 2019 (153)
40 EVA ss3831486163 Apr 26, 2020 (154)
41 EVA ss3839255503 Apr 26, 2020 (154)
42 EVA ss3844717041 Apr 26, 2020 (154)
43 SGDP_PRJ ss3871312885 Apr 26, 2020 (154)
44 KRGDB ss3918939072 Apr 26, 2020 (154)
45 KOGIC ss3965122289 Apr 26, 2020 (154)
46 TOPMED ss4809002729 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5191644351 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5279448906 Oct 16, 2022 (156)
49 EVA ss5385402003 Oct 16, 2022 (156)
50 HUGCELL_USP ss5475769298 Oct 16, 2022 (156)
51 EVA ss5509598020 Oct 16, 2022 (156)
52 1000G_HIGH_COVERAGE ss5571030917 Oct 16, 2022 (156)
53 SANFORD_IMAGENETICS ss5646704933 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5734571715 Oct 16, 2022 (156)
55 YY_MCH ss5810258456 Oct 16, 2022 (156)
56 EVA ss5828716630 Oct 16, 2022 (156)
57 EVA ss5856629670 Oct 16, 2022 (156)
58 EVA ss5915122263 Oct 16, 2022 (156)
59 EVA ss5975965687 Oct 16, 2022 (156)
60 1000Genomes NC_000009.11 - 604735 Oct 12, 2018 (152)
61 1000Genomes_30x NC_000009.12 - 604735 Oct 16, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 604735 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000009.11 - 604735 Oct 12, 2018 (152)
64 The Danish reference pan genome NC_000009.11 - 604735 Apr 26, 2020 (154)
65 gnomAD - Genomes NC_000009.12 - 604735 Apr 26, 2021 (155)
66 Genome of the Netherlands Release 5 NC_000009.11 - 604735 Apr 26, 2020 (154)
67 KOREAN population from KRGDB NC_000009.11 - 604735 Apr 26, 2020 (154)
68 Korean Genome Project NC_000009.12 - 604735 Apr 26, 2020 (154)
69 Northern Sweden NC_000009.11 - 604735 Jul 13, 2019 (153)
70 Qatari NC_000009.11 - 604735 Apr 26, 2020 (154)
71 SGDP_PRJ NC_000009.11 - 604735 Apr 26, 2020 (154)
72 Siberian NC_000009.11 - 604735 Apr 26, 2020 (154)
73 8.3KJPN NC_000009.11 - 604735 Apr 26, 2021 (155)
74 14KJPN NC_000009.12 - 604735 Oct 16, 2022 (156)
75 TopMed NC_000009.12 - 604735 Apr 26, 2021 (155)
76 UK 10K study - Twins NC_000009.11 - 604735 Oct 12, 2018 (152)
77 A Vietnamese Genetic Variation Database NC_000009.11 - 604735 Jul 13, 2019 (153)
78 ALFA NC_000009.12 - 604735 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
ss165995061, ss206882527, ss253975516, ss280062504, ss294266774, ss1595828253 NC_000009.10:594734:C:T NC_000009.12:604734:C:T (self)
44708123, 24879861, 17695069, 9109335, 11095534, 26116466, 9509479, 11525555, 23329865, 6195926, 49613658, 24879861, 5523608, ss224064181, ss234686232, ss241487805, ss561168170, ss655600077, ss986205344, ss1076028434, ss1332490794, ss1431717307, ss1582944398, ss1622038313, ss1665032346, ss1929483625, ss2025447941, ss2153679572, ss2709472917, ss2874303153, ss3004229678, ss3348475898, ss3671956821, ss3736224614, ss3768790850, ss3831486163, ss3839255503, ss3871312885, ss3918939072, ss5191644351, ss5385402003, ss5509598020, ss5646704933, ss5828716630, ss5975965687 NC_000009.11:604734:C:T NC_000009.12:604734:C:T (self)
58556852, 315223496, 21500290, 68408819, 646380290, 11955202003, ss2308561705, ss3026511810, ss3649049151, ss3723288509, ss3811949324, ss3844717041, ss3965122289, ss4809002729, ss5279448906, ss5475769298, ss5571030917, ss5734571715, ss5810258456, ss5856629670, ss5915122263 NC_000009.12:604734:C:T NC_000009.12:604734:C:T (self)
ss10518101 NT_008413.15:594734:C:T NC_000009.12:604734:C:T (self)
ss15542865, ss22782903 NT_008413.16:594734:C:T NC_000009.12:604734:C:T (self)
ss43354160, ss97699857, ss134122756 NT_008413.18:594734:C:T NC_000009.12:604734: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 rs7033854

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.post761+d5e8e07