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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.

rs34009

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:142601255 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.300653 (80818/268808, ALFA)
T=0.231414 (61253/264690, TOPMED)
T=0.18421 (14491/78664, PAGE_STUDY) (+ 20 more)
T=0.32865 (9287/28258, 14KJPN)
T=0.33288 (5579/16760, 8.3KJPN)
T=0.2269 (1453/6404, 1000G_30x)
T=0.3862 (1730/4480, Estonian)
T=0.3306 (1274/3854, ALSPAC)
T=0.3209 (1190/3708, TWINSUK)
T=0.3410 (999/2930, KOREAN)
T=0.2529 (527/2084, HGDP_Stanford)
T=0.2151 (407/1892, HapMap)
T=0.3341 (612/1832, Korea1K)
T=0.365 (364/998, GoNL)
T=0.316 (250/792, PRJEB37584)
T=0.343 (206/600, NorthernSweden)
T=0.272 (145/534, MGP)
T=0.273 (59/216, Qatari)
T=0.248 (53/214, Vietnamese)
G=0.438 (92/210, SGDP_PRJ)
T=0.33 (18/54, Ancient Sardinia)
T=0.33 (13/40, GENOME_DK)
G=0.42 (16/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGF1 : 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 268808 G=0.699347 C=0.000000, T=0.300653
European Sub 236956 G=0.687638 C=0.000000, T=0.312362
African Sub 7218 G=0.9099 C=0.0000, T=0.0901
African Others Sub 298 G=0.953 C=0.000, T=0.047
African American Sub 6920 G=0.9081 C=0.0000, T=0.0919
Asian Sub 3790 G=0.6905 C=0.0000, T=0.3095
East Asian Sub 3060 G=0.6716 C=0.0000, T=0.3284
Other Asian Sub 730 G=0.770 C=0.000, T=0.230
Latin American 1 Sub 1072 G=0.7920 C=0.0000, T=0.2080
Latin American 2 Sub 6996 G=0.8413 C=0.0000, T=0.1587
South Asian Sub 5166 G=0.6880 C=0.0000, T=0.3120
Other Sub 7610 G=0.7327 C=0.0000, T=0.2673


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
Allele Frequency Aggregator Total Global 268808 G=0.699347 C=0.000000, T=0.300653
Allele Frequency Aggregator European Sub 236956 G=0.687638 C=0.000000, T=0.312362
Allele Frequency Aggregator Other Sub 7610 G=0.7327 C=0.0000, T=0.2673
Allele Frequency Aggregator African Sub 7218 G=0.9099 C=0.0000, T=0.0901
Allele Frequency Aggregator Latin American 2 Sub 6996 G=0.8413 C=0.0000, T=0.1587
Allele Frequency Aggregator South Asian Sub 5166 G=0.6880 C=0.0000, T=0.3120
Allele Frequency Aggregator Asian Sub 3790 G=0.6905 C=0.0000, T=0.3095
Allele Frequency Aggregator Latin American 1 Sub 1072 G=0.7920 C=0.0000, T=0.2080
TopMed Global Study-wide 264690 G=0.768586 T=0.231414
The PAGE Study Global Study-wide 78664 G=0.81579 T=0.18421
The PAGE Study AfricanAmerican Sub 32504 G=0.87432 T=0.12568
The PAGE Study Mexican Sub 10800 G=0.82546 T=0.17454
The PAGE Study Asian Sub 8312 G=0.6817 T=0.3183
The PAGE Study PuertoRican Sub 7914 G=0.8235 T=0.1765
The PAGE Study NativeHawaiian Sub 4532 G=0.6975 T=0.3025
The PAGE Study Cuban Sub 4230 G=0.7584 T=0.2416
The PAGE Study Dominican Sub 3826 G=0.8178 T=0.1822
The PAGE Study CentralAmerican Sub 2448 G=0.8333 T=0.1667
The PAGE Study SouthAmerican Sub 1982 G=0.8163 T=0.1837
The PAGE Study NativeAmerican Sub 1260 G=0.7198 T=0.2802
The PAGE Study SouthAsian Sub 856 G=0.693 T=0.307
14KJPN JAPANESE Study-wide 28258 G=0.67135 T=0.32865
8.3KJPN JAPANESE Study-wide 16760 G=0.66712 T=0.33288
1000Genomes_30x Global Study-wide 6404 G=0.7730 C=0.0002, T=0.2269
1000Genomes_30x African Sub 1786 G=0.9188 C=0.0006, T=0.0806
1000Genomes_30x Europe Sub 1266 G=0.6991 C=0.0000, T=0.3009
1000Genomes_30x South Asian Sub 1202 G=0.6622 C=0.0000, T=0.3378
1000Genomes_30x East Asian Sub 1170 G=0.6932 C=0.0000, T=0.3068
1000Genomes_30x American Sub 980 G=0.834 C=0.000, T=0.166
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6138 T=0.3862
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6694 T=0.3306
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6791 T=0.3209
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6590 T=0.3410
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.7471 T=0.2529
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.655 T=0.345
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.688 T=0.312
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.709 T=0.291
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.697 T=0.303
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.963 T=0.037
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.972 T=0.028
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.69 T=0.31
HapMap Global Study-wide 1892 G=0.7849 T=0.2151
HapMap American Sub 770 G=0.725 T=0.275
HapMap African Sub 692 G=0.905 T=0.095
HapMap Asian Sub 254 G=0.654 T=0.346
HapMap Europe Sub 176 G=0.767 T=0.233
Korean Genome Project KOREAN Study-wide 1832 G=0.6659 T=0.3341
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.635 T=0.365
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.684 T=0.316
CNV burdens in cranial meningiomas CRM Sub 792 G=0.684 T=0.316
Northern Sweden ACPOP Study-wide 600 G=0.657 T=0.343
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.728 T=0.272
Qatari Global Study-wide 216 G=0.727 T=0.273
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.752 T=0.248
SGDP_PRJ Global Study-wide 210 G=0.438 T=0.562
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 G=0.67 T=0.33
The Danish reference pan genome Danish Study-wide 40 G=0.68 T=0.33
Siberian Global Study-wide 38 G=0.42 T=0.58
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 5 NC_000005.10:g.142601255G>C
GRCh38.p14 chr 5 NC_000005.10:g.142601255G>T
GRCh37.p13 chr 5 NC_000005.9:g.141980820G>C
GRCh37.p13 chr 5 NC_000005.9:g.141980820G>T
Gene: FGF1, fibroblast growth factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF1 transcript variant 1 NM_000800.5:c.170-450C>G N/A Intron Variant
FGF1 transcript variant 4 NM_001144892.3:c.170-450C…

NM_001144892.3:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 5 NM_001144934.2:c.170-450C…

NM_001144934.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 6 NM_001144935.2:c.170-450C…

NM_001144935.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 7 NM_001257205.1:c.170-450C…

NM_001257205.1:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 8 NM_001257206.2:c.170-450C…

NM_001257206.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 9 NM_001257207.2:c.170-450C…

NM_001257207.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 10 NM_001257208.2:c.170-450C…

NM_001257208.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 11 NM_001257209.1:c.170-450C…

NM_001257209.1:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 12 NM_001257210.2:c.170-450C…

NM_001257210.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 13 NM_001257211.2:c.170-450C…

NM_001257211.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 14 NM_001257212.2:c.170-450C…

NM_001257212.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 15 NM_001354951.2:c.170-450C…

NM_001354951.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 16 NM_001354952.2:c.170-450C…

NM_001354952.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 17 NM_001354953.2:c.170-450C…

NM_001354953.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 18 NM_001354954.2:c.170-450C…

NM_001354954.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 19 NM_001354955.2:c.170-450C…

NM_001354955.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 20 NM_001354956.2:c.170-450C…

NM_001354956.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 21 NM_001354957.2:c.170-450C…

NM_001354957.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 22 NM_001354958.2:c.170-450C…

NM_001354958.2:c.170-450C>G

N/A Intron Variant
FGF1 transcript variant 23 NM_001354959.2:c.170-5771…

NM_001354959.2:c.170-5771C>G

N/A Intron Variant
FGF1 transcript variant 24 NM_001354961.2:c.170-5771…

NM_001354961.2:c.170-5771C>G

N/A Intron Variant
FGF1 transcript variant 25 NM_001354962.2:c.170-5771…

NM_001354962.2:c.170-5771C>G

N/A Intron Variant
FGF1 transcript variant 26 NM_001354963.2:c.170-5771…

NM_001354963.2:c.170-5771C>G

N/A Intron Variant
FGF1 transcript variant 27 NM_001354964.2:c.170-5771…

NM_001354964.2:c.170-5771C>G

N/A Intron Variant
FGF1 transcript variant 2 NM_033136.4:c.170-5771C>G N/A Intron Variant
FGF1 transcript variant 3 NM_033137.4:c.170-5774C>G 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 G= C T
GRCh38.p14 chr 5 NC_000005.10:g.142601255= NC_000005.10:g.142601255G>C NC_000005.10:g.142601255G>T
GRCh37.p13 chr 5 NC_000005.9:g.141980820= NC_000005.9:g.141980820G>C NC_000005.9:g.141980820G>T
FGF1 transcript variant 1 NM_000800.4:c.170-450= NM_000800.4:c.170-450C>G NM_000800.4:c.170-450C>A
FGF1 transcript variant 1 NM_000800.5:c.170-450= NM_000800.5:c.170-450C>G NM_000800.5:c.170-450C>A
FGF1 transcript variant 4 NM_001144892.2:c.170-450= NM_001144892.2:c.170-450C>G NM_001144892.2:c.170-450C>A
FGF1 transcript variant 4 NM_001144892.3:c.170-450= NM_001144892.3:c.170-450C>G NM_001144892.3:c.170-450C>A
FGF1 transcript variant 5 NM_001144934.1:c.170-450= NM_001144934.1:c.170-450C>G NM_001144934.1:c.170-450C>A
FGF1 transcript variant 5 NM_001144934.2:c.170-450= NM_001144934.2:c.170-450C>G NM_001144934.2:c.170-450C>A
FGF1 transcript variant 6 NM_001144935.1:c.170-450= NM_001144935.1:c.170-450C>G NM_001144935.1:c.170-450C>A
FGF1 transcript variant 6 NM_001144935.2:c.170-450= NM_001144935.2:c.170-450C>G NM_001144935.2:c.170-450C>A
FGF1 transcript variant 7 NM_001257205.1:c.170-450= NM_001257205.1:c.170-450C>G NM_001257205.1:c.170-450C>A
FGF1 transcript variant 8 NM_001257206.1:c.170-450= NM_001257206.1:c.170-450C>G NM_001257206.1:c.170-450C>A
FGF1 transcript variant 8 NM_001257206.2:c.170-450= NM_001257206.2:c.170-450C>G NM_001257206.2:c.170-450C>A
FGF1 transcript variant 9 NM_001257207.1:c.170-450= NM_001257207.1:c.170-450C>G NM_001257207.1:c.170-450C>A
FGF1 transcript variant 9 NM_001257207.2:c.170-450= NM_001257207.2:c.170-450C>G NM_001257207.2:c.170-450C>A
FGF1 transcript variant 10 NM_001257208.1:c.170-450= NM_001257208.1:c.170-450C>G NM_001257208.1:c.170-450C>A
FGF1 transcript variant 10 NM_001257208.2:c.170-450= NM_001257208.2:c.170-450C>G NM_001257208.2:c.170-450C>A
FGF1 transcript variant 11 NM_001257209.1:c.170-450= NM_001257209.1:c.170-450C>G NM_001257209.1:c.170-450C>A
FGF1 transcript variant 12 NM_001257210.1:c.170-450= NM_001257210.1:c.170-450C>G NM_001257210.1:c.170-450C>A
FGF1 transcript variant 12 NM_001257210.2:c.170-450= NM_001257210.2:c.170-450C>G NM_001257210.2:c.170-450C>A
FGF1 transcript variant 13 NM_001257211.1:c.170-450= NM_001257211.1:c.170-450C>G NM_001257211.1:c.170-450C>A
FGF1 transcript variant 13 NM_001257211.2:c.170-450= NM_001257211.2:c.170-450C>G NM_001257211.2:c.170-450C>A
FGF1 transcript variant 14 NM_001257212.1:c.170-450= NM_001257212.1:c.170-450C>G NM_001257212.1:c.170-450C>A
FGF1 transcript variant 14 NM_001257212.2:c.170-450= NM_001257212.2:c.170-450C>G NM_001257212.2:c.170-450C>A
FGF1 transcript variant 15 NM_001354951.2:c.170-450= NM_001354951.2:c.170-450C>G NM_001354951.2:c.170-450C>A
FGF1 transcript variant 16 NM_001354952.2:c.170-450= NM_001354952.2:c.170-450C>G NM_001354952.2:c.170-450C>A
FGF1 transcript variant 17 NM_001354953.2:c.170-450= NM_001354953.2:c.170-450C>G NM_001354953.2:c.170-450C>A
FGF1 transcript variant 18 NM_001354954.2:c.170-450= NM_001354954.2:c.170-450C>G NM_001354954.2:c.170-450C>A
FGF1 transcript variant 19 NM_001354955.2:c.170-450= NM_001354955.2:c.170-450C>G NM_001354955.2:c.170-450C>A
FGF1 transcript variant 20 NM_001354956.2:c.170-450= NM_001354956.2:c.170-450C>G NM_001354956.2:c.170-450C>A
FGF1 transcript variant 21 NM_001354957.2:c.170-450= NM_001354957.2:c.170-450C>G NM_001354957.2:c.170-450C>A
FGF1 transcript variant 22 NM_001354958.2:c.170-450= NM_001354958.2:c.170-450C>G NM_001354958.2:c.170-450C>A
FGF1 transcript variant 23 NM_001354959.2:c.170-5771= NM_001354959.2:c.170-5771C>G NM_001354959.2:c.170-5771C>A
FGF1 transcript variant 24 NM_001354961.2:c.170-5771= NM_001354961.2:c.170-5771C>G NM_001354961.2:c.170-5771C>A
FGF1 transcript variant 25 NM_001354962.2:c.170-5771= NM_001354962.2:c.170-5771C>G NM_001354962.2:c.170-5771C>A
FGF1 transcript variant 26 NM_001354963.2:c.170-5771= NM_001354963.2:c.170-5771C>G NM_001354963.2:c.170-5771C>A
FGF1 transcript variant 27 NM_001354964.2:c.170-5771= NM_001354964.2:c.170-5771C>G NM_001354964.2:c.170-5771C>A
FGF1 transcript variant 2 NM_033136.3:c.170-5771= NM_033136.3:c.170-5771C>G NM_033136.3:c.170-5771C>A
FGF1 transcript variant 2 NM_033136.4:c.170-5771= NM_033136.4:c.170-5771C>G NM_033136.4:c.170-5771C>A
FGF1 transcript variant 3 NM_033137.2:c.170-5774= NM_033137.2:c.170-5774C>G NM_033137.2:c.170-5774C>A
FGF1 transcript variant 3 NM_033137.4:c.170-5774= NM_033137.4:c.170-5774C>G NM_033137.4:c.170-5774C>A
FGF1 transcript variant X1 XM_005268389.1:c.170-450= XM_005268389.1:c.170-450C>G XM_005268389.1:c.170-450C>A
FGF1 transcript variant X2 XM_005268390.1:c.170-450= XM_005268390.1:c.170-450C>G XM_005268390.1:c.170-450C>A
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#.

133 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss36651 May 08, 2000 (76)
2 KWOK ss323703 Jul 12, 2000 (85)
3 SC_JCM ss486630 Jul 16, 2000 (85)
4 KWOK ss1237775 Oct 13, 2000 (87)
5 KWOK ss1273689 Oct 13, 2000 (87)
6 KWOK ss1750955 Oct 18, 2000 (87)
7 YUSUKE ss3221973 Sep 28, 2001 (100)
8 CSHL-HAPMAP ss17090152 Feb 27, 2004 (120)
9 EGP_SNPS ss23140734 Sep 20, 2004 (126)
10 PERLEGEN ss24668156 Sep 20, 2004 (123)
11 ABI ss44586298 Mar 11, 2006 (126)
12 ILLUMINA ss66809600 Dec 01, 2006 (127)
13 ILLUMINA ss67294741 Dec 01, 2006 (127)
14 ILLUMINA ss67698842 Dec 01, 2006 (127)
15 ILLUMINA ss70773356 May 26, 2008 (130)
16 ILLUMINA ss71348998 May 17, 2007 (127)
17 ILLUMINA ss75821780 Dec 07, 2007 (129)
18 ILLUMINA ss79161370 Dec 15, 2007 (130)
19 KRIBB_YJKIM ss83356572 Dec 15, 2007 (130)
20 BCMHGSC_JDW ss93273320 Mar 24, 2008 (129)
21 ILLUMINA ss122188183 Dec 01, 2009 (131)
22 ENSEMBL ss143493075 Dec 01, 2009 (131)
23 ILLUMINA ss154258878 Dec 01, 2009 (131)
24 GMI ss156108458 Dec 01, 2009 (131)
25 ILLUMINA ss159435320 Dec 01, 2009 (131)
26 ILLUMINA ss160619417 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss167158546 Jul 04, 2010 (132)
28 ILLUMINA ss171576081 Jul 04, 2010 (132)
29 ILLUMINA ss173583774 Jul 04, 2010 (132)
30 1000GENOMES ss211726275 Jul 14, 2010 (132)
31 1000GENOMES ss222003809 Jul 14, 2010 (132)
32 1000GENOMES ss233176125 Jul 14, 2010 (132)
33 1000GENOMES ss240291383 Jul 15, 2010 (132)
34 GMI ss278507166 May 04, 2012 (137)
35 GMI ss285274976 Apr 25, 2013 (138)
36 PJP ss293474030 May 09, 2011 (134)
37 ILLUMINA ss480777899 May 04, 2012 (137)
38 ILLUMINA ss480793764 May 04, 2012 (137)
39 ILLUMINA ss481692313 Sep 08, 2015 (146)
40 ILLUMINA ss485183671 May 04, 2012 (137)
41 ILLUMINA ss537172079 Sep 08, 2015 (146)
42 SSMP ss652658665 Apr 25, 2013 (138)
43 ILLUMINA ss778518490 Sep 08, 2015 (146)
44 ILLUMINA ss783037999 Sep 08, 2015 (146)
45 ILLUMINA ss783997463 Sep 08, 2015 (146)
46 ILLUMINA ss825491888 Apr 01, 2015 (144)
47 ILLUMINA ss832295698 Sep 08, 2015 (146)
48 ILLUMINA ss832946911 Jul 13, 2019 (153)
49 ILLUMINA ss833974850 Sep 08, 2015 (146)
50 EVA-GONL ss982200209 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1073095521 Aug 21, 2014 (142)
52 DDI ss1430523583 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1581378994 Apr 01, 2015 (144)
54 EVA_DECODE ss1591729968 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1614172518 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1657166551 Apr 01, 2015 (144)
57 EVA_MGP ss1711100852 Apr 01, 2015 (144)
58 EVA_SVP ss1712805615 Apr 01, 2015 (144)
59 ILLUMINA ss1752553090 Sep 08, 2015 (146)
60 WEILL_CORNELL_DGM ss1925454684 Feb 12, 2016 (147)
61 ILLUMINA ss1958829787 Feb 12, 2016 (147)
62 GENOMED ss1970223726 Jul 19, 2016 (147)
63 JJLAB ss2023333294 Sep 14, 2016 (149)
64 USC_VALOUEV ss2151491713 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2278788092 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2626154274 Nov 08, 2017 (151)
67 ILLUMINA ss2634349019 Nov 08, 2017 (151)
68 GRF ss2707057352 Nov 08, 2017 (151)
69 ILLUMINA ss2710663091 Nov 08, 2017 (151)
70 GNOMAD ss2831648159 Nov 08, 2017 (151)
71 SWEGEN ss2997913410 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3025449025 Nov 08, 2017 (151)
73 CSHL ss3346659866 Nov 08, 2017 (151)
74 ILLUMINA ss3625885256 Oct 12, 2018 (152)
75 ILLUMINA ss3629358414 Oct 12, 2018 (152)
76 ILLUMINA ss3632272531 Oct 12, 2018 (152)
77 ILLUMINA ss3633392211 Oct 12, 2018 (152)
78 ILLUMINA ss3634113526 Oct 12, 2018 (152)
79 ILLUMINA ss3635026056 Oct 12, 2018 (152)
80 ILLUMINA ss3635795210 Oct 12, 2018 (152)
81 ILLUMINA ss3636738967 Oct 12, 2018 (152)
82 ILLUMINA ss3637547863 Oct 12, 2018 (152)
83 ILLUMINA ss3638585050 Oct 12, 2018 (152)
84 ILLUMINA ss3639294783 Oct 12, 2018 (152)
85 ILLUMINA ss3639671717 Oct 12, 2018 (152)
86 ILLUMINA ss3640733350 Oct 12, 2018 (152)
87 ILLUMINA ss3641185967 Oct 12, 2018 (152)
88 ILLUMINA ss3641482971 Oct 12, 2018 (152)
89 ILLUMINA ss3643528710 Oct 12, 2018 (152)
90 ILLUMINA ss3644890917 Oct 12, 2018 (152)
91 OMUKHERJEE_ADBS ss3646325881 Oct 12, 2018 (152)
92 EGCUT_WGS ss3665829662 Jul 13, 2019 (153)
93 EVA_DECODE ss3715846677 Jul 13, 2019 (153)
94 ACPOP ss3732879803 Jul 13, 2019 (153)
95 ILLUMINA ss3744260861 Jul 13, 2019 (153)
96 ILLUMINA ss3745326242 Jul 13, 2019 (153)
97 EVA ss3764152606 Jul 13, 2019 (153)
98 PAGE_CC ss3771236583 Jul 13, 2019 (153)
99 ILLUMINA ss3772820209 Jul 13, 2019 (153)
100 PACBIO ss3785269702 Jul 13, 2019 (153)
101 PACBIO ss3790649490 Jul 13, 2019 (153)
102 PACBIO ss3795526476 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3807322355 Jul 13, 2019 (153)
104 EVA ss3829539642 Apr 26, 2020 (154)
105 EVA ss3838244285 Apr 26, 2020 (154)
106 EVA ss3843687098 Apr 26, 2020 (154)
107 HGDP ss3847809162 Apr 26, 2020 (154)
108 SGDP_PRJ ss3863128467 Apr 26, 2020 (154)
109 KRGDB ss3909793210 Apr 26, 2020 (154)
110 KOGIC ss3957791766 Apr 26, 2020 (154)
111 FSA-LAB ss3984318747 Apr 26, 2021 (155)
112 EVA ss3984555456 Apr 26, 2021 (155)
113 EVA ss3985174421 Apr 26, 2021 (155)
114 EVA ss3986322843 Apr 26, 2021 (155)
115 TOPMED ss4681375408 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5174486353 Apr 26, 2021 (155)
117 EVA ss5237187564 Apr 26, 2021 (155)
118 1000G_HIGH_COVERAGE ss5266107102 Oct 17, 2022 (156)
119 EVA ss5315091207 Oct 17, 2022 (156)
120 EVA ss5361448331 Oct 17, 2022 (156)
121 HUGCELL_USP ss5464045732 Oct 17, 2022 (156)
122 1000G_HIGH_COVERAGE ss5550891513 Oct 17, 2022 (156)
123 EVA ss5624151047 Oct 17, 2022 (156)
124 SANFORD_IMAGENETICS ss5639028607 Oct 17, 2022 (156)
125 TOMMO_GENOMICS ss5711667357 Oct 17, 2022 (156)
126 EVA ss5799664148 Oct 17, 2022 (156)
127 YY_MCH ss5806827576 Oct 17, 2022 (156)
128 EVA ss5835744702 Oct 17, 2022 (156)
129 EVA ss5848067684 Oct 17, 2022 (156)
130 EVA ss5848636998 Oct 17, 2022 (156)
131 EVA ss5855046216 Oct 17, 2022 (156)
132 EVA ss5896627270 Oct 17, 2022 (156)
133 EVA ss5967503609 Oct 17, 2022 (156)
134 1000Genomes_30x NC_000005.10 - 142601255 Oct 17, 2022 (156)
135 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 141980820 Oct 12, 2018 (152)
136 Genetic variation in the Estonian population NC_000005.9 - 141980820 Oct 12, 2018 (152)
137 The Danish reference pan genome NC_000005.9 - 141980820 Apr 26, 2020 (154)
138 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 206613396 (NC_000005.10:142601254:G:C 38/140090)
Row 206613397 (NC_000005.10:142601254:G:T 34870/140036)

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

Submission ignored due to conflicting rows:
Row 206613396 (NC_000005.10:142601254:G:C 38/140090)
Row 206613397 (NC_000005.10:142601254:G:T 34870/140036)

- Apr 26, 2021 (155)
140 Genome of the Netherlands Release 5 NC_000005.9 - 141980820 Apr 26, 2020 (154)
141 HGDP-CEPH-db Supplement 1 NC_000005.8 - 141961004 Apr 26, 2020 (154)
142 HapMap NC_000005.10 - 142601255 Apr 26, 2020 (154)
143 KOREAN population from KRGDB NC_000005.9 - 141980820 Apr 26, 2020 (154)
144 Korean Genome Project NC_000005.10 - 142601255 Apr 26, 2020 (154)
145 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 141980820 Apr 26, 2020 (154)
146 Northern Sweden NC_000005.9 - 141980820 Jul 13, 2019 (153)
147 The PAGE Study NC_000005.10 - 142601255 Jul 13, 2019 (153)
148 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 141980820 Apr 26, 2021 (155)
149 CNV burdens in cranial meningiomas NC_000005.9 - 141980820 Apr 26, 2021 (155)
150 Qatari NC_000005.9 - 141980820 Apr 26, 2020 (154)
151 SGDP_PRJ NC_000005.9 - 141980820 Apr 26, 2020 (154)
152 Siberian NC_000005.9 - 141980820 Apr 26, 2020 (154)
153 8.3KJPN NC_000005.9 - 141980820 Apr 26, 2021 (155)
154 14KJPN NC_000005.10 - 142601255 Oct 17, 2022 (156)
155 TopMed NC_000005.10 - 142601255 Apr 26, 2021 (155)
156 UK 10K study - Twins NC_000005.9 - 141980820 Oct 12, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000005.9 - 141980820 Jul 13, 2019 (153)
158 ALFA NC_000005.10 - 142601255 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)
rs250097 Sep 19, 2000 (85)
rs1071238 Oct 23, 2000 (87)
rs17217352 Mar 11, 2006 (126)
rs17540877 Oct 08, 2004 (123)
rs60782037 May 26, 2008 (130)
rs117272280 Aug 16, 2010 (132)
rs386582068 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2831648159 NC_000005.9:141980819:G:C NC_000005.10:142601254:G:C (self)
38417448, 8446605514, ss2278788092, ss5550891513 NC_000005.10:142601254:G:C NC_000005.10:142601254:G:C (self)
ss23140734, ss83356572 NT_029289.11:3143746:G:C NC_000005.10:142601254:G:C (self)
487054, ss93273320, ss167158546, ss211726275, ss278507166, ss285274976, ss293474030, ss480777899, ss825491888, ss1591729968, ss1712805615, ss2710663091, ss3639294783, ss3639671717, ss3643528710, ss3847809162 NC_000005.8:141961003:G:T NC_000005.10:142601254:G:T (self)
16247719, 11567910, 7543933, 7216868, 16970604, 216612, 6164668, 400348, 104828, 7496614, 15145447, 4008067, 32455660, 16247719, 3600212, ss222003809, ss233176125, ss240291383, ss480793764, ss481692313, ss485183671, ss537172079, ss652658665, ss778518490, ss783037999, ss783997463, ss832295698, ss832946911, ss833974850, ss982200209, ss1073095521, ss1430523583, ss1581378994, ss1614172518, ss1657166551, ss1711100852, ss1752553090, ss1925454684, ss1958829787, ss1970223726, ss2023333294, ss2151491713, ss2626154274, ss2634349019, ss2707057352, ss2831648159, ss2997913410, ss3346659866, ss3625885256, ss3629358414, ss3632272531, ss3633392211, ss3634113526, ss3635026056, ss3635795210, ss3636738967, ss3637547863, ss3638585050, ss3640733350, ss3641185967, ss3641482971, ss3644890917, ss3646325881, ss3665829662, ss3732879803, ss3744260861, ss3745326242, ss3764152606, ss3772820209, ss3785269702, ss3790649490, ss3795526476, ss3829539642, ss3838244285, ss3863128467, ss3909793210, ss3984318747, ss3984555456, ss3985174421, ss3986322843, ss5174486353, ss5315091207, ss5361448331, ss5624151047, ss5639028607, ss5799664148, ss5835744702, ss5848067684, ss5848636998, ss5967503609 NC_000005.9:141980819:G:T NC_000005.10:142601254:G:T (self)
38417448, 2982371, 14169767, 458052, 45504461, 518752965, 8446605514, ss2278788092, ss3025449025, ss3715846677, ss3771236583, ss3807322355, ss3843687098, ss3957791766, ss4681375408, ss5237187564, ss5266107102, ss5464045732, ss5550891513, ss5711667357, ss5806827576, ss5855046216, ss5896627270 NC_000005.10:142601254:G:T NC_000005.10:142601254:G:T (self)
ss17090152 NT_029289.10:3143746:G:T NC_000005.10:142601254:G:T (self)
ss36651, ss323703, ss486630, ss1237775, ss1273689, ss1750955, ss3221973, ss23140734, ss24668156, ss44586298, ss66809600, ss67294741, ss67698842, ss70773356, ss71348998, ss75821780, ss79161370, ss83356572, ss122188183, ss143493075, ss154258878, ss156108458, ss159435320, ss160619417, ss171576081, ss173583774 NT_029289.11:3143746:G:T NC_000005.10:142601254:G: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 rs34009

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