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Reference SNP (refSNP) Cluster Report: rs17114046                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1038/520 (1000 Genomes)
G=0.1196/15014 (TOPMED)
HGVS Names
  • CM000663.2:g.56500678A>G
  • NC_000001.10:g.56966350A>G
  • NC_000001.11:g.56500678A>G
  • NM_003713.4:c.811-4002T>C
Links , Linkout
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 ss77264469 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17114046 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
ss23165718PERLEGEN|afd1034526byFreqfwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt08/10/0409/13/04123Genomicunknown
ss66802628ILLUMINA|HumanHap300v1.1_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt11/09/0611/09/06127Genomicunknown
ss67177297ILLUMINA|HumanHap550v1.1_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt11/14/0611/14/06127Genomicunknown
ss67538241ILLUMINA|HumanHap650Yv1.0_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt11/14/0611/14/06127Genomicunknown
ss68766734PERLEGEN|PGP01034526byFreqfwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt01/30/0703/31/08127Genomicunknown
ss70450665ILLUMINA|HumanHap300v2.0_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt04/18/0711/18/07127Genomicunknown
ss70655316ILLUMINA|HumanHap550v3.0__rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt04/20/0703/30/08130Genomicunknown
ss71214795ILLUMINA|HumanHap650Yv3.0_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt04/23/0704/23/07127Genomicunknown
ss74833286AFFY|SNP_M-590602fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt08/09/0708/09/07128Genomicunknown
ss75847505ILLUMINA|ILMN_Human_1M_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt08/28/0708/29/07129Genomicunknown
ss77264469HGSV|Cor12156_SNV_20070510.chr1_56678371byFreqfwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt10/09/0709/05/14129Genomicunknown
ss84791486HGSV|Cor18517_SNV_20070510.chr1_56678371fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt12/06/0712/08/07130Genomicunknown
ss85365049KRIBB_YJKIM|KHS977831fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt12/04/0712/09/07130Genomicunknown
ss1082140361000GENOMES|CEU.trio.12.15.2008_68187_chr1_56738938fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt12/15/0812/15/08130Genomicunknown
ss121786699ILLUMINA|HumanCNV370v1_C_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt04/14/0904/14/09131Genomicunknown
ss153629555ILLUMINA|Human610_Quadv1_B_rs17114046-128_T_F_1501680673fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt06/18/0906/19/09131Genomicunknown
ss159308948ILLUMINA|Human660W-Quad_v1_A_rs17114046-128_T_F_1501680673fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt07/06/0907/06/09131Genomicunknown
ss170750524ILLUMINA|HumanCNV370-Quadv3_C_rs17114046-128_T_F_1501680673fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt10/01/0910/03/09132Genomicunknown
ss172751363ILLUMINA|Human1M-Duov3_B_rs17114046-128_T_F_1501680673fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt10/01/0910/02/09132Genomicunknown
ss2183913831000GENOMES|pilot_1_YRI_201066_chr1_56738938fwd/A/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt04/22/1004/22/10132Genomicunknown
ss2305393121000GENOMES|pilot_1_CEU_143941_chr1_56738938fwd/A/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt05/01/1005/01/10132Genomicunknown
ss410911935ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs17114046fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt06/07/1106/07/11135Genomicunknown
ss480196261ILLUMINA|HumanOmniExpress-12v1_C_rs17114046-131_T_F_1858883522fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct01/30/1210/27/16137Genomicunknown
ss491294472EXOME_CHIP|.GWAS._10699_chr_1_56966350fwd/TA/Gggccctaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacctgcatt03/05/1203/05/12137Genomicunknown
ss536948625ILLUMINA|HumanOmni5-4v1_B_rs17114046-131_T_F_1908728507fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct06/22/1208/28/15146Genomicunknown
ss554124393TISHKOFF|snp_chr1_56966350fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/22/1211/22/12138Genomicunknown
ss647962600SSMP|1_56966350fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct12/14/1202/09/15138Genomicunknown
ss780682355ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/30/1307/09/15142Genomicunknown
ss783355702ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/31/1306/18/15142Genomicunknown
ss825419398ILLUMINA|HumanCNV370v1_C_rs17114046-123_T_F_IFB1137352722:0fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct06/24/1311/21/14147Genomicunknown
ss832146504ILLUMINA|HumanOmniExpress-12v1_H_rs17114046-131_T_F_1858883522fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct09/17/1306/18/15144Genomicunknown
ss832821010ILLUMINA|Human660W-Quad_v1_C_rs17114046-131_T_F_1858883522fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct09/18/1307/02/15142Genomicunknown
ss833411840ILLUMINA|Human660W-Quad_v1_H_rs17114046-131_T_F_1858883522fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct09/18/1307/02/15142Genomicunknown
ss975172481EVA-GONL|EVA-GONL_rs17114046fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct04/23/1404/23/14142Genomicunknown
ss1067895643JMKIDD_LAB|HGDP_WGS_chr1_56966350fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct07/10/1407/10/14142Genomicunknown
ss12909379351000GENOMES|PHASE3_V1_1666347fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct08/16/1408/16/14142Genomicunknown
ss1397245735HAMMER_LAB|HAMMER_LAB_rs17114046fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct09/30/1409/30/14146Genomicunknown
ss1425811956DDI|DDI_rs17114046fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/04/1411/04/14144Genomicunknown
ss1574067911EVA_GENOME_DK|EVA_GENOME_DK_snv_rs17114046fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct02/19/1502/19/15144Genomicunknown
ss1584539235EVA_DECODE|EVA_DECODE_1_56738938_409978_rs17114046fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct03/02/1503/02/15144Genomicunknown
ss1600198050EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_56966350_903135fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct03/04/1503/04/15144Genomicunknown
ss1643192083EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_56966350_903135fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct03/04/1503/04/15144Genomicunknown
ss1712333893EVA_SVP|EVA_SVP_28445fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct03/12/1503/12/15144Genomicunknown
ss1751925882ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/27/1506/09/15146Genomicunknown
ss1751925883ILLUMINA|OmniExpressExome-8v1-1_B_rs17114046-131_T_F_1908728507fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/27/1506/09/15146Genomicunknown
ss1794383054HAMMER_LAB|Hsieh_177362fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct07/15/1507/15/15146Genomicunknown
ss1917729238ILLUMINA|HumanExome-12v1-1_B_exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct10/16/1510/16/15147Genomicunknown
ss1918380623WEILL_CORNELL_DGM|SNV:chr1:56966350fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct10/16/1510/16/15147Genomicunknown
ss1945995814ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct10/29/1510/29/15147Genomicunknown
ss1958274311ILLUMINA|exm-rs17114046-131_T_F_1990489159fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/13/1511/13/15147Genomicunknown
ss1966654138AMU|chr1_56966350fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct01/29/1601/29/16147Genomicunknown
ss2019706530JJLAB|SNP209085fwd/TA/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct08/29/1608/30/16149Genomicunknown
ss2147721102USC_VALOUEV|NC_000001.10:g.56966350A>Gfwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/17/1611/17/16150Genomicunknown
ss2162598630HUMAN_LONGEVITY|HLI-1-56500678-A-Gfwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/18/1611/18/16150Genomicunknown
ss2324839667TOPMED|1_56966350_A/Gfwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct11/19/1611/19/16150Genomicunknown
ss2632516891ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs17114046-131_T_F_1908728fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct02/02/1702/02/17151Genomicunknown
ss2632516892ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs17114046-131_T_F_213fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct02/02/1702/02/17151Genomicunknown
ss2697634214GRF|rs17114046fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct02/13/1702/13/17151Genomicunknown
ss2755275953GNOMAD|rs17114046fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/17/1705/17/17151Genomicunknown
ss2984860188AFFY|Axiom_PsorMich_Affx-11906792fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/24/1705/24/17151Genomicunknown
ss2985508735AFFY|Axiom_Smokesc1_Affx-11906792fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/24/1705/24/17151Genomicunknown
ss2986835474SWEGEN|NC_000001.10:g.56966350A>Gfwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct05/30/1705/30/17151Genomicunknown
ss3021089197ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs17114046-131_T_F_1990489159fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct06/28/1706/28/17151Genomicunknown
ss3023613378BIOINF_KMB_FNS_UNIBA|1.56500678A>Gfwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct07/05/1707/05/17151Genomicunknown
ss3076938702TOPMED|TOPMed_freeze_5?chr1:56,500,678fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct09/28/1709/28/17151Genomicunknown
ss3343459163CSHL|rs17114046fwd/A/Gtaggaatcattgtcaaggtgaaagcgggaagcaacatgttggaaagacct10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17114046|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ATGTGTTAAA CTCCAAAAAT ATGAAGATGA ATATATATAA GACAGTCTTT TACCCTCAAG
 GAGTTTATAG GCCAATGAGT TAGACAGCCA GGTAAACAGA TGACCACAAT ACAGCATATT
 AAGGATTATG ATGGAGGGAA GCAAGGGTGT TGAGGAAGCA CAGAGAATGT GGCATTTAAC
 CCAGACTGAA GGGGAGTGGG AAGCAGGCCT TAGAAGGCTT CTCCTAAAGG TTGTCTATTT
 GATCTTAGCT TTGAAGGATA AGGAGGAGTT AACCAGGCAG TGAATGCTAG GATGTTATAG
 GCAAAGGGAA TAGTGTGTGC AAAGGTACAG GAGAAAGGGA GTACAGCACA TCCAGGAGCT
 GCAGGAAGCT CAGTATATCT AAGGCGGAGC AGTCAAAGAG GCTGGAGAGG AGAGGACTAG
 ATATTGAAAA GCGTCTTGGG ACATGTTAAA AGTTCAGATC TCATTCTTTT GGCCCTAGGA
 ATCATTGTCA AGGTGAAAGC
 R
 GGGAAGCAAC ATGTTGGAAA GACCTGCATT AAGATCATGT TGGAGGTCAG GTGCAGTGGC
 TCACGCCTAA AATCCCAGCA CTTTGGGAGG CTGAGGCAGG TGGATCATCT GAGGTCAGGA
 GTTAGAGACC AGCCTGGCCA ACATGGTGAA ACCCCCTCTC TACAAAAGTA CAAAAATTAG
 GTGGGCATGA TGGTGGGTGC CTATAATCCC AGCTACTCGG GAGGCTGAGG TGGAAGAATC
 ACTTGGACCT GGGAGGCGGA GGTTTCAGTG AGCCAAGATG GTGCCATTGC ACTCCAGCCT
 GGGCGAGACA GCGAGACTCT GTCTCAGACA AAAAAAAAAA AAAAAAAAAA AAAAAATCAT
 GTTGGTAACT AAAATGGAGA CGGAGTCAAA AAGCATGCAG TGAGCCTGGA GGCAGGGATT
 ACAGAGTCTA GGGGAGGATG AGTCCTGAAC AACACCTATA CAGTAAAGAC AAAGAAGAAG
 AGATGGATTT TGAAATGTTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001.8
dbSNP Blast Analysis

  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.
SourceA/A
A/G
G/G
HWPA
G
ss1290937935EAS 1008AF 0.979200010.02080000
EUR 1006AF 0.881699980.11830001
AFR 1322AF 0.800300000.19970000
AMR 694AF 0.917899970.08210000
SAS 978AF 0.939700010.06030000
ss218391383pilot_1_YRI_low_coverage_panel 118AF 0.779661000.22033899
ss230539312pilot_1_CEU_low_coverage_panel 120AF 0.916666690.08333334
ss23165718AFD_EUR_PANELEuropean 48IG0.833333310.16666667 1.000000000.916666690.08333334
AFD_AFR_PANELAfrican American 44IG0.636363630.36363637 0.583882000.818181810.18181819
AFD_CHN_PANELAsian 48IG0.958333310.04166667 1.000000000.979166690.02083333
ss68766734HapMap-CEUEuropean 120IG0.800000010.20000000 0.751830000.899999980.10000000
HapMap-HCBAsian 90IG0.955555560.04444445 1.000000000.977777780.02222222
HapMap-JPTAsian 90IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG0.649999980.250000000.100000000.050043000.774999980.22499999
ss77264469HapMap-CEUEuropean 226IG0.831858400.159292040.008849561.000000000.911504450.08849557
HapMap-HCBAsian 86IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-JPTAsian 90IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 226IG0.654867230.283185840.061946900.200325000.796460150.20353982
HAPMAP-ASW 98IG0.653061210.306122450.040816331.000000000.806122420.19387755
HAPMAP-CHBAsian 82IG0.951219500.04878049 1.000000000.975609780.02439024
HAPMAP-CHD 170IG0.941176470.05882353 1.000000000.970588210.02941176
HAPMAP-GIH 176IG0.897727250.090909090.011363640.200325000.943181810.05681818
HAPMAP-LWK 180IG0.644444470.322222230.033333341.000000000.805555580.19444445
HAPMAP-MEX 100IG0.860000010.14000000 1.000000000.930000010.07000000
HAPMAP-MKK 286IG0.615384640.370629370.013986010.099721000.800699290.19930071
HAPMAP-TSI 176IG0.772727250.22727273 0.583882000.886363630.11363637
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.186+/-0.2420000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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