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Reference SNP (refSNP) Cluster Report: rs17167484                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1711/857 (1000 Genomes)
G=0.1494/18761 (TOPMED)
HGVS Names
  • CM000667.2:g.134371303T>G
  • NC_000005.10:g.134371303T>G
  • NC_000005.9:g.133706994T>G
  • NG_042179.2:g.4745A>C
  • NG_046936.1:g.5128T>G
  • NM_001300853.1:c.-708A>C
  • NM_001349363.1:c.-334A>C
  • NM_001349364.1:c.-563A>C
  • NM_001349365.1:c.-512A>C
  • NM_001349366.1:c.-423A>C
  • NM_003337.3:c.-293T>G
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss278489865 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17167484 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss23738346PERLEGEN|afd0832302byFreqfwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg08/10/0409/13/04123Genomicunknown
ss38350308EGP_SNPS|UBE2B-002125byFreqfwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg07/07/0511/02/06126Genomicunknown
ss75078248ILLUMINA|ILMN_Human_1M_rs17167484fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg08/28/0708/29/07129Genomicunknown
ss80761278HGSV|Cor18507_SNV_20070510.chr5_133734893fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg11/26/0711/26/07130Genomicunknown
ss85842018HGSV|Cor18517_SNV_20070510.chr5_133734893fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg12/06/0712/10/07130Genomicunknown
ss1133024891000GENOMES|NA19240_2008_12_16_1229355_chr5_133734893fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg12/18/0812/18/08130Genomicunknown
ss116822354ILLUMINA-UK|NA18507_000170057_NCBI36.1_chr5_133734893fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg01/17/0901/18/09130Genomic99 %
ss119880449KRIBB_YJKIM|KHS1895561fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg02/04/0902/05/09131Genomicunknown
ss156057380GMI|GMI_SNP_29081081fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg06/24/0906/24/09131Genomicunknown
ss160432772ILLUMINA|HumanOmni1-Quad_v1-0_B_rs17167484-128_B_F_1514035816fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg08/04/0910/02/09131Genomicunknown
ss165908948COMPLETE_GENOMICS|NA19240_36_chr5_133734893fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg09/29/0909/30/09132Genomicunknown
ss172775633ILLUMINA|Human1M-Duov3_B_rs17167484-128_B_F_1514035816fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg10/01/0910/02/09132Genomicunknown
ss200893388BUSHMAN|BUSHMAN-chr5-133734892fwd/BG/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg02/16/1003/07/10132Genomicunknown
ss2219780731000GENOMES|pilot_1_YRI_3787756_chr5_133734893fwd/G/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg04/22/1004/22/10132Genomicunknown
ss2331579761000GENOMES|pilot_1_CEU_2762605_chr5_133734893fwd/G/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg05/01/1005/01/10132Genomicunknown
ss2402769761000GENOMES|pilot_1_CHB+JPT_2162053_chr5_133734893fwd/G/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg05/01/1005/01/10132Genomicunknown
ss278489865GMI|GMI_AK_SNP_2810104fwd/G/Ttagtctgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaaccgcg12/16/1012/16/10137Genomicunknown
ss480206903ILLUMINA|HumanOmni2.5-4v1_B_rs17167484-128_B_F_1732094109fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa01/30/1210/28/16137Genomicunknown
ss480217357ILLUMINA|HumanOmniExpress-12v1_C_rs17167484-131_B_F_1856942940fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa01/30/1210/27/16137Genomicunknown
ss480947366ILLUMINA|HumanOmni1-Quad_v1-0_C_rs17167484-131_B_F_1865483341fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa01/30/1208/28/15146Genomicunknown
ss484901510ILLUMINA|HumanOmni2.5-4v1_D_rs17167484-131_B_F_1856942940fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa01/30/1210/28/16137Genomicunknown
ss536956133ILLUMINA|HumanOmni5-4v1_B_rs17167484-131_B_F_1894912092fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa06/22/1208/29/15146Genomicunknown
ss558727203TISHKOFF|snp_chr5_133706994fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/22/1211/23/12138Genomicunknown
ss652626377SSMP|5_133706994fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa12/14/1202/11/15138Genomicunknown
ss778457451ILLUMINA|HumanOmni25Exome-8v1_A_rs17167484-131_B_F_1865483341fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/30/1307/09/15142Genomicunknown
ss782897064ILLUMINA|HumanOmni2.5-4v1_H_rs17167484-131_B_F_1856942940fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/30/1307/28/15142Genomicunknown
ss783860476ILLUMINA|HumanOmniExpressExome-8v1_A_rs17167484-131_B_F_1894912092fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/31/1306/19/15142Genomicunknown
ss832151783ILLUMINA|HumanOmniExpress-12v1_H_rs17167484-131_B_F_1856942940fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa09/17/1306/18/15144Genomicunknown
ss833913119ILLUMINA|HumanOmni2.5-8v1_A_rs17167484-131_B_F_1865483341fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa09/18/1307/28/15142Genomicunknown
ss982146589EVA-GONL|EVA-GONL_rs17167484fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa04/23/1404/24/14142Genomicunknown
ss1073058981JMKIDD_LAB|HGDP_WGS_chr5_133706994fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa07/10/1407/11/14142Genomicunknown
ss13173027971000GENOMES|PHASE3_V1_29135776fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa08/16/1408/16/14142Genomicunknown
ss1430509760DDI|DDI_rs17167484fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/04/1411/05/14144Genomicunknown
ss1581360118EVA_GENOME_DK|EVA_GENOME_DK_snv_rs17167484fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa02/19/1502/20/15144Genomicunknown
ss1591674388EVA_DECODE|EVA_DECODE_5_133734893_1005092_rs17167484fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa03/02/1503/03/15144Genomicunknown
ss1614057927EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_133706994_16121993fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa03/04/1503/04/15144Genomicunknown
ss1657051960EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_133706994_16121993fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa03/04/1503/04/15144Genomicunknown
ss1712801705EVA_SVP|EVA_SVP_496072fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa03/12/1503/12/15144Genomicunknown
ss1752549228ILLUMINA|OmniExpressExome-8v1-1_B_rs17167484-131_B_F_1894912092fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/27/1506/09/15146Genomicunknown
ss1804091906HAMMER_LAB|Hsieh_3100668fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa07/15/1507/15/15146Genomicunknown
ss1925403971WEILL_CORNELL_DGM|SNV:chr5:133706994fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa10/16/1510/17/15147Genomicunknown
ss1946155466ILLUMINA|HumanCoreExome-12v1-0_C_rs17167484-131_B_F_1894912092fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa10/29/1510/29/15147Genomicunknown
ss1958823906ILLUMINA|rs17167484-131_B_F_1894912092fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/13/1511/13/15147Genomicunknown
ss1970213799GENOMED|rs17167484fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa02/16/1602/16/16147Genomicunknown
ss2023307563JJLAB|SNP3810118fwd/BG/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa08/29/1608/30/16149Genomicunknown
ss2151463961USC_VALOUEV|NC_000005.9:g.133706994T>Gfwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/17/1611/17/16150Genomicunknown
ss2278331637HUMAN_LONGEVITY|HLI-5-134371303-T-Gfwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/18/1611/18/16150Genomicunknown
ss2446639289TOPMED|5_133706994_T/Gfwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa11/20/1611/20/16150Genomicunknown
ss2634342340ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs17167484-131_B_F_1894912fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa02/02/1702/02/17151Genomicunknown
ss2635149455ILLUMINA|Cancer_BeadChip_11459870_A_rs17167484-128_B_F_1732094109fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa02/02/1702/02/17151Genomicunknown
ss2707027937GRF|rs17167484fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa02/13/1702/13/17151Genomicunknown
ss2711049018ILLUMINA|Consortium-OncoArray_15047405_A_rs17167484-131_B_F_1894912092fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa03/22/1703/22/17151Genomicunknown
ss2831011859GNOMAD|rs17167484fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/18/1705/18/17151Genomicunknown
ss2997826290SWEGEN|NC_000005.9:g.133706994T>Gfwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa05/30/1705/30/17151Genomicunknown
ss3022531297ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs17167484-138_B_F_2276457691fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa06/28/1706/28/17151Genomicunknown
ss3346638496CSHL|rs17167484fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa10/02/1710/02/17151Genomicunknown
ss3479221161TOPMED|TOPMed_freeze_5?chr5:134,371,303fwd/G/Ttgaacacagagaacacaaatttgtcattacttcaggaagcccagggggaa10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17167484|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 CCCCAAGTAC CAGAGTTAAT AAGCCACTGA ACCAACCAGA GGGGAATTAT TTTTGGTCCC
 GGTTTAAAGA AAACAAAACA AGCTGTTGAT TCTGCCATGA CCTCTTGGGT AATGTTGTCT
 CTATACCTGT GATAAACAGA AAACAACTAA TAAAGGTTTA TCCCGCCCTC ACCCTCTTAA
 ACCCGCTTCA CAGACCTGGC TGAAACTCAC ATCCAGGCGA GGCGCTCACG TGACCCGTTC
 TAAACGCGTC ATAGGGACAC GTGGTTCTAG ATACTTCTCC CCCTCCCACT CAGGGGTGGA
 TTGTTGACAA GGCCGCGGGC AGTCACGTGA TCTTACATCA TCCCACCTCC TTTCCCTGAA
 ATCTCTGGCC CGGATGCGTC CCTCTTTCTC CACCCCGCCG AGCCTAAACT AGTGACGGGG
 AGGGAGACGG GATAGTGTTT CTGTTTCGTG GTCTTTGAAT CCACAACCTC TAGTCTGAAC
 ACAGAGAACA CAAATTTGTC
 K
 ATTACTTCAG GAAGCCCAGG GGGAACCGCG CCCCGCTGAA GGGCTCGGGG AAGGCGCGCT
 CCCGCGTCCC GCCCCCTCCT CCCCCAGCAC TCACACTGTG GTAGCGGCGG AGGGCGGAGG
 GATCCGGAGG CGGCGGAGGG AGACGTCATT GCAGGGTTGT TTGTCAGTCT CGGCGGCGGC
 GGCGGCGGCG GCGGCGGCGG CGATCCACAG TGATTCGGCC GCCGCGCCGG GGGGTGGGGG
 GGCTGCGCGG GACTTTTTTT TTTTCAGACT GACCGCGGGG CAGCTGCGGA GCATGTCGAC
 CCCGGCCCGG AGGAGGCTCA TGCGGGATTT CAAGCGGTAA GGGCCTTCAC CTTCGCCTAG
 ATGACGGCCC CTCAAAGCTG CGGGGCTGCA GGGCGTGGAT CCCAGACACC TTCCCCTTTG
 TGACCCTCAG AGGGCCGGCT GTGGGCCCAG CGGGACTGGC GGAAGCCGGG TCCTAGCCTC
 GGCCCTACTC CCATAAGCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000005.5
dbSNP Blast Analysis
UniGene Cluster ID
385986

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss116822354YRI 2IG 1.00000000 0.500000000.50000000
ss1317302797EAS 1008AF 0.057500000.94250000
EUR 1006AF 0.109300000.89069998
AFR 1322AF 0.335900010.66409999
AMR 694AF 0.191599990.80839998
SAS 978AF 0.114500000.88549995
ss165908948YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss221978073pilot_1_YRI_low_coverage_panel 118AF 0.279661030.72033900
ss233157976pilot_1_CEU_low_coverage_panel 120AF 0.058333330.94166666
ss23738346AFD_EUR_PANELEuropean 48IG 0.125000000.875000001.000000000.062500000.93750000
AFD_AFR_PANELAfrican American 38IG0.315789460.315789460.368421050.150222000.473684220.52631581
AFD_CHN_PANELAsian 48IG 0.166666670.833333311.000000000.083333340.91666669
ss240276976pilot_1_CHB+JPT_low_coverage_panel 120AF 0.083333340.91666669
ss38350308HapMap-CEUEuropean 226IG0.008849560.070796460.920354010.099721000.044247790.95575219
HapMap-HCBAsian 86IG 0.139534890.860465111.000000000.069767450.93023258
HapMap-JPTAsian 172IG 0.116279070.883720931.000000000.058139540.94186044
HapMap-YRISub-Saharan African 226IG0.061946900.522123870.415929200.050043000.323008840.67699116
EGP_YORUB-PANELSub-Saharan African 18IG 0.666666690.33333334 0.333333340.66666669
EGP_HISP-PANELHispanic 40IG0.050000000.200000000.750000000.342782000.150000010.85000002
EGP_CEPH-PANELEuropean 32IG 0.125000000.875000001.000000000.062500000.93750000
EGP_AD-PANELAfrican American 24IG0.250000000.500000000.25000000 0.500000000.50000000
EGP_ASIAN-PANELAsian 40IG 1.00000000 1.00000000
HAPMAP-ASW 98IG0.061224490.489795920.448979590.294266000.306122450.69387758
HAPMAP-CHBAsian 82IG 0.121951220.878048781.000000000.060975610.93902439
HAPMAP-CHD 170IG 0.105882350.894117651.000000000.052941180.94705880
HAPMAP-GIH 176IG0.011363640.238636360.750000000.654721000.130681810.86931819
HAPMAP-LWK 180IG0.233333330.555555580.211111110.294266000.511111140.48888889
HAPMAP-MEX 100IG0.020000000.160000000.819999990.438578000.100000000.89999998
HAPMAP-MKK 286IG0.223776220.545454560.230769230.294266000.496503500.50349653
HAPMAP-TSI 176IG0.011363640.204545450.784090941.000000000.113636370.88636363
ENSEMBL_Watson 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.284+/-0.2480000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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