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Reference SNP (refSNP) Cluster Report: rs7504165                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1969/986 (1000 Genomes)
T=0.2550/32025 (TOPMED)
HGVS Names
  • CM000680.2:g.4777540T>A
  • CM000680.2:g.4777540T>C
  • NC_000018.9:g.4777539T>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 ss11329652 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7504165 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
ss11329652SC_JCM|chr18.NT_010859.12_4767541byFreqfwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa07/03/0310/25/06116Genomicunknown
ss19375439CSHL-HAPMAP|CSHL-HuDD-200402.chr18.NT_010859.13_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa02/20/0403/04/04120Genomicunknown
ss21444619SSAHASNP|WGSA-200403-chr18.chr18.NT_010859.13_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa03/20/0403/20/04121Genomicunknown
ss44147642ABI|hCV134396fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa07/18/0507/18/05126Genomicunknown
ss66787366ILLUMINA|HumanHap300v1.1_rs7504165fwd/TC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa11/09/0611/09/06127Genomicunknown
ss67583333ILLUMINA|HumanHap550v1.1_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa11/14/0611/14/06127Genomicunknown
ss67965670ILLUMINA|HumanHap650Yv1.0_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa11/14/0611/15/06127Genomicunknown
ss70930193ILLUMINA|HumanHap550v3.0__rs7504165rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg04/20/0703/31/08130Genomicunknown
ss71531670ILLUMINA|HumanHap650Yv3.0_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa04/23/0704/23/07127Genomicunknown
ss75773882ILLUMINA|ILMN_Human_1M_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa08/28/0708/29/07129Genomicunknown
ss79258520ILLUMINA|HumanHap300v2.0_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa04/18/0711/18/07130Genomicunknown
ss84669282KRIBB_YJKIM|KHS774557fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/04/0712/07/07130Genomicunknown
ss90698351BCMHGSC_JDW|JWB-1063639fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa02/26/0802/29/08129Genomicunknown
ss96487874HUMANGENOME_JCVI|1103645126053fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa03/26/0803/26/08130Genomicunknown
ss106527584BGI|BGI_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa09/15/0806/19/09130Genomicunknown
ss1100784251000GENOMES|CEU.trio.12.15.2008_3458595_chr18_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/17/0812/17/08130Genomicunknown
ss1139927481000GENOMES|NA19240_2008_12_16_3115653_chr18_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/18/0812/18/08130Genomicunknown
ss117771246ILLUMINA-UK|NA18507_000008074_NCBI36.1_chr18_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa01/20/0901/20/09130Genomic99 %
ss122765747ILLUMINA|HumanCNV370v1_C_rs7504165fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa04/14/0904/15/09131Genomicunknown
ss132689242ENSEMBL|ENSSNP1438506byFreqfwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/08/0803/07/10131Genomicunknown
ss137241108ENSEMBL|ENSSNP5643133fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa05/15/0905/16/09131Genomicunknown
ss154426502ILLUMINA|Human610_Quadv1_B_rs7504165-127_T_R_1501867651rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg06/18/0906/20/09131Genomicunknown
ss154786918GMI|GMI_SNP_148783891fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa06/24/0906/24/09131Genomicunknown
ss159601629ILLUMINA|Human660W-Quad_v1_A_rs7504165-128_T_R_1501867651rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg07/06/0907/07/09131Genomicunknown
ss160882527ILLUMINA|HumanOmni1-Quad_v1-0_B_rs7504165-128_T_R_1501867651rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg08/04/0910/04/09131Genomicunknown
ss168955216COMPLETE_GENOMICS|NA19240_36_chr18_4767539fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa10/01/0910/01/09132Genomicunknown
ss172297273ILLUMINA|HumanCNV370-Quadv3_C_rs7504165-127_T_R_1501867651rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg10/01/0910/04/09132Genomicunknown
ss174387994ILLUMINA|Human1M-Duov3_B_rs7504165-127_T_R_1501867651rev/TA/Gtttagcattttttactatgtactgtttctttatttttcttcacctgctgtgagccccctg10/01/0910/04/09132Genomicunknown
ss202924575BUSHMAN|BUSHMAN-chr18-4767538fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa02/16/1003/08/10132Genomicunknown
ss208130958BCM-HGSC-SUB|BCM_CMT_1011-3009496fwd/BC/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa03/15/1003/19/10132Genomicunknown
ss2277146331000GENOMES|pilot_1_YRI_9524316_chr18_4767539fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa04/22/1004/22/10132Genomicunknown
ss2373638441000GENOMES|pilot_1_CEU_6968473_chr18_4767539fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa05/01/1005/01/10132Genomicunknown
ss2436349401000GENOMES|pilot_1_CHB+JPT_5520017_chr18_4767539fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa05/01/1005/01/10132Genomicunknown
ss282884782GMI|GMI_AK_SNP_7205201fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/16/1012/16/10137Genomicunknown
ss287235568GMI|GMI_NA10851_SNP_3248359fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa12/17/1012/17/10138Genomicunknown
ss292069254PJP|SNP_1575612_chr18_4767539fwd/C/Tcagggggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatgctaaa01/21/1101/21/11134Genomicunknown
ss481575214ILLUMINA|HumanOmni2.5-4v1_B_rs7504165-128_T_R_1774948146fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg01/30/1210/28/16137Genomicunknown
ss481605048ILLUMINA|HumanOmniExpress-12v1_C_rs7504165-131_T_R_1857289007fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg01/30/1210/27/16137Genomicunknown
ss482576564ILLUMINA|HumanOmni1-Quad_v1-0_C_rs7504165-131_T_R_1865772759fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg01/30/1208/28/15146Genomicunknown
ss485582640ILLUMINA|HumanOmni2.5-4v1_D_rs7504165-131_T_R_1857289007fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg01/30/1210/27/16137Genomicunknown
ss537475335ILLUMINA|HumanOmni5-4v1_B_rs7504165-131_T_R_1894830899fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg06/22/1208/29/15146Genomicunknown
ss565476614TISHKOFF|snp_chr18_4777539fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg11/22/1211/23/12138Genomicunknown
ss661295249SSMP|18_4777539fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg12/14/1202/14/15138Genomicunknown
ss778711792ILLUMINA|HumanOmni25Exome-8v1_A_rs7504165-131_T_R_1865772759fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/30/1307/10/15146Genomicunknown
ss783236899ILLUMINA|HumanOmni2.5-4v1_H_rs7504165-131_T_R_1857289007fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/30/1307/29/15146Genomicunknown
ss784190857ILLUMINA|HumanOmniExpressExome-8v1_A_rs7504165-131_T_R_1894830899fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/31/1306/19/15146Genomicunknown
ss825589038ILLUMINA|HumanCNV370v1_C_rs7504165-126_T_R_IFB1136819678:0fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg06/24/1311/21/14147Genomicunknown
ss832497411ILLUMINA|HumanOmniExpress-12v1_H_rs7504165-131_T_R_1857289007fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg09/17/1306/18/15146Genomicunknown
ss834170970ILLUMINA|HumanOmni2.5-8v1_A_rs7504165-131_T_R_1865772759fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg09/18/1307/29/15146Genomicunknown
ss993444518EVA-GONL|EVA-GONL_rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg04/23/1404/30/14142Genomicunknown
ss1081293450JMKIDD_LAB|HGDP_WGS_chr18_4777539fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg07/10/1407/12/14142Genomicunknown
ss13599532561000GENOMES|PHASE3_V1_73542807fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg08/16/1408/16/14142Genomicunknown
ss1397737785HAMMER_LAB|HAMMER_LAB_rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg09/30/1407/15/15146Genomicunknown
ss1428131566DDI|DDI_rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg11/04/1411/04/14144Genomicunknown
ss1578291208EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg02/19/1502/19/15144Genomicunknown
ss1636315399EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_18_4777539_40584023fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg03/04/1503/04/15144Genomicunknown
ss1679309432EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_18_4777539_40584023fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg03/04/1503/04/15144Genomicunknown
ss1697496667EVA_DECODE|EVA_DECODE_18_4767539_40653_rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg03/02/1503/04/15144Genomicunknown
ss1713605821EVA_SVP|EVA_SVP_1300188fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg03/12/1503/12/15144Genomicunknown
ss1752258628ILLUMINA|OmniExpressExome-8v1-1_B_rs7504165-131_T_R_1894830899fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/27/1506/09/15146Genomicunknown
ss1808932914HAMMER_LAB|Hsieh_7961131fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg07/15/1507/16/15146Genomicunknown
ss1936915776WEILL_CORNELL_DGM|SNV:chr18:4777539fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg10/16/1510/19/15147Genomicunknown
ss1968459291GENOMED|rs7504165fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg02/16/1602/16/16147Genomicunknown
ss2029229670JJLAB|SNP9732225fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg08/29/1608/31/16149Genomicunknown
ss2095077422ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs7504165-138_T_R_2276698919fwd/BC/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg09/27/1609/27/16150Genomicunknown
ss2157724617USC_VALOUEV|NC_000018.9:g.4777539T>Cfwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg11/17/1611/17/16150Genomicunknown
ss2219465202HUMAN_LONGEVITY|HLI-18-4777540-T-Cfwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg11/18/1611/18/16150Genomicunknown
ss2384709997TOPMED|18_4777539_T/Cfwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg11/19/1611/19/16150Genomicunknown
ss2629112239SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6210497fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg01/06/1701/06/17151Genomicunknown
ss2633440579ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs7504165-131_T_R_18948308fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg02/02/1702/02/17151Genomicunknown
ss2702294145GRF|rs7504165fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg02/13/1702/13/17151Genomicunknown
ss2953623679GNOMAD|rs7504165fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/23/1705/23/17151Genomicunknown
ss3016085731SWEGEN|NC_000018.9:g.4777539T>Cfwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg05/30/1705/30/17151Genomicunknown
ss3028440851BIOINF_KMB_FNS_UNIBA|18.4777540T>Cfwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg07/05/1707/05/17151Genomicunknown
ss3271428248TOPMED|TOPMed_freeze_5?chr18:4,777,540-01fwd/A/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg10/01/1710/01/17151Genomicunknown
ss3271428249TOPMED|TOPMed_freeze_5?chr18:4,777,540-02fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg10/01/1710/01/17151Genomicunknown
ss3351896236CSHL|rs7504165fwd/C/Tggctcacagcaggtgaagaaaaataaagaaacagtacatagtaaaaaatg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7504165|allelePos=3836|totalLen=4036|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 AAATGTTgaa caaagaaatg atacagaaat gcgagaggaa atggggttaa agaggagctg
 tttctttttt tgtttgcttt aattccaagg gttaagatac ctttgtgtgc taatggaaat
 aatcttgtag aaagaaaatt gatgatgAAT TTGGATTGTG GTTTTGACAA GTTAGGATTA
 CACAGtgtag gggttgaaaa ggtacaatac ctttccttca gaagggtcat ggctgacact
 cctataacaa tgacaacaac aaagacagat taaaaagaga aaagcatgat acatttattt
 aatcaaagtg ttacatgaca caggggcctt cagaaatgaa gacctaaaga ctcaaagaaa
 acgattttta tgcttaggtc caacaaagaa tggacagcca tgtagaaatg tgattggaca
 aaaatggtat gatataatgg taatagacct aagtgggaaa gacagcgaag gctgcctgtt
 cagattcttc ttgacttcta tttgcagcat ttctttctcc caggtataga ccaggtatag
 acccctttgg aaatgagggt cttatgatct actatcagat aaagtaggcc agagaattta
 tggccatctt ctacacagaa aggaaggtgg aaggttagag caatacagtt gatccttgaa
 tgacacaggt ttgaactgcg tgggtccatt tatatgtcga tgtttttcaa taaacatatt
 agaaatgttt tcaagatttg tggtaatttg caaaaactct cggacaaacc atgtagcctt
 agaagtattg aaataattaa taaaaggtta tgtatgtcat gaatgtataa aatatatgta
 gatactagtc tattgtatca tttactacca tgaaatatat gcaaatctgt tatgtaaaaa
 agttaaatat caaaacttat gcacatgctt acagaccata catggcacca ttggcagtca
 acagaaatgt aaacaaatgt aaagacacag tattgaatca taaatgcata aaattaactc
 tagtacatac ccatctactg caataatttt gttgccacct cctgttgcta ctgcagtgag
 ctcaggtgtt gtatctgctt aaaatgccct gtgacgttag tcatccccac atgagcagta
 ttgcagtaaa aagttttctc cagctgctct tgagtatttt tcatcatttt tagtgcaata
 ccataaactt ggaataatat cacaggaccc atacaaagtg ccactagtga tgctggaatt
 tgtcccaaga agcaaagaaa actcatgata ttataagaaa aagctgaatt gcttgatacg
 taccatagat tgaggtctgc agcttcagtt gtccaccatt tcaagaaaaa tgaatccagc
 atagggatca ttgatgtgaa gccatcactg cagctacatc tgaaggtgca aaaaccatac
 actttttatg gaataacttt taatctcata ttgaaaatac agcttttata tgggtgcaaa
 attactatat tacctataga ttgtaatata ttttgagaaa aagcaaaatc attatatggc
 aagttaaagc aaaaagaagg tgaaggacct aaagctggag gattgaatgc cagcaaagga
 tggtttgata attttaaaaa ggcatttaac tttaataaaa atgtcaaact tgtgaagaag
 cagcttctgc tgctcaagag gcagcagacg agttcccatt gccatgaaga aaatcattat
 ctgcctgaac aggtttctaa tgaagatgaa agtacatttt tttttatcct gaaaaaaaaa
 atgccacaaa gaagatttag tagtaaggaa gagaagcaca caccaggatt taaggcagga
 ggggataggc taactctact gttttgtgca aatagagttg ggtttatgat ccggactgtg
 cttttctata aatctgctag cccctgagcc tttctttgta tttttttttt ttttttgaga
 cagtcttgct ctgtcaccca ggctgtagtg cagtggcatg atcttggctc actgcaacct
 ccgcttccca ggttcaagtg attctcctac ctcagcctcc cacgtagctg ggattacagg
 tgtgagctgc tacgcctggc taatttttgt atttttagta gagatggggt ttcaccatgt
 tggccaggct ggtctccaaa tcctgacctc aggtgatccg cctacctcag cctcccaaag
 tgctgggatt acaggcataa gccactgtgc ccagtcactc ctaagcctta aaggggaaat
 ataaacacca gcagccagtc ttttggtttt acaagaaggc ctgtacgagg agaacccttt
 ttctgaattg gttccatcag tgtattgtct ctgaagtcag gaagtacttt gccagaaagg
 aatttccatt taaaactctt ttggtgttga gcaataaccc tggccactta gaatctcatg
 agttcaacac cgaaggcatt gaagtggtct gctctccctc gaacacaaca tctctagttg
 agccttagat gaaggggtca taaagacctt taagtctcat tacacagggt actctatgga
 aagaattgtc aatgctatgg aagaggaccc tgatagagag aacaccatga aagtctagaa
 ggatcacacc attgaatatg ccatcattgc tttagaaaac cacgaaagcc atagagcctg
 acacaacaat ttcttctgga gaaaactgtg tccagatatt gtccacgact tcacaggatt
 caacagtgcc agtcagggaa atgataacac agatatgcaa aaaaggtgtg aggtgaagga
 tttcaacata tgggtcttgg agaaattcaa gagttaagag agggtatccc agaggaatta
 acagaaaatg acttgatgga gataagtact ttcaaaccag tgccaatgag gaagaagata
 ttgaagaagc agtgccagaa aacataatga cattagacac tctgccagaa ggattctgat
 tatacaagaa tgctattgac ttcttttatg acacagaccc ttcgatgata tgggtactga
 aaataaagta aatggtacca tagagaaaca ttttcagaga aattaaaaag caaaaaaagg
 cagaccaaaa ttacaatgta tttccataaa attataccga gtgtgcctgc ctctgctgcc
 tccccttcca cctcctctgc ttcttccacc tctgctaccc ctgagacagc aaaaccaacc
 actcttctcc ctcctcctcc tcagcctact cagcatgaag acaatgagga agacttttat
 aatgatccgc ttccacttaa tgaatagtaa atatactttc tcttccttat aattttcata
 ataacatttt cttttatcta gctttgttgt aagaatatag tatatcatat atataacata
 caaattatat gttaaatgac tttatgttat cagtaaggct ttcagtcaac agtgagcACA
 TACACATTGT AATTCCCAAA TTGTTCCAGG GTCATCTGTA Tttctagttc ctactaccca
 tcttggggaa gaagaactcc agtcctgtgg cctgccttgg ggaaggaaag gaagcaagag
 aaaggcaggc agtagaaggt cagaaagagg ctttgcttct gaggcccttc caatggcctt
 cagttcaaag tactctgcat gccaaagagt tatacttttg ggtatcattt tctgagctcc
 aacaATAAAA GAGGAGCCCA GGATTTGAGA GGATATCCAA GAAAATAATT TTGATGATGT
 TTATTTCTTT CATACTCCTT GTTCTCAGGG GGCTCACAGC AGGTGAAGAA AAATA
 H
 AAGAAACAGT ACATAGTAAA AAATGCTAAA ATAGAGAAAT ATAGGATGCC ATGCAAACAC
 AGAGGAAGGA TTTGATGTAC CATATTTTAC TAAATCATTA CAGAATACTT CTATTAATTA
 TGGATAATAT CACAATAAAC ATACTGGTGT ACATATAGCA CATTTTTAAT AATACTCCTA
 CAAATACATC AGAATTATTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010859 ABBA01049875
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.
SourceC/C
C/T
T/T
HWPC
T
ss11329652HapMap-CEUEuropean 226IG0.407079640.469026540.123893801.000000000.641592920.35840708
HapMap-HCBAsian 86IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-JPTAsian 172IG0.872093020.12790698 1.000000000.936046540.06395349
HapMap-YRISub-Saharan African 226IG0.601769920.362831860.035398230.479500000.783185840.21681416
HAPMAP-ASW 98IG0.591836750.346938790.061224491.000000000.765306120.23469388
HAPMAP-CHBAsian 82IG0.853658560.14634146 1.000000000.926829280.07317073
HAPMAP-CHD 170IG0.882352950.11764706 1.000000000.941176470.05882353
HAPMAP-GIH 176IG0.613636370.329545470.056818180.751830000.778409060.22159091
HAPMAP-LWK 180IG0.566666660.400000010.033333340.273322000.766666650.23333333
HAPMAP-MEX 100IG0.680000010.280000000.040000000.751830000.819999990.18000001
HAPMAP-MKK 286IG0.783216770.188811180.027972030.150222000.877622370.12237762
HAPMAP-TSI 176IG0.511363630.420454530.068181820.751830000.721590940.27840909
ss117771246YRI 2IG 1.00000000 0.500000000.50000000
ss132689242ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss1359953256EAS 1008AF 0.949400010.05060000
EUR 1006AF 0.676900030.32310000
AFR 1322AF 0.796500030.20350000
AMR 694AF 0.772300000.22770001
SAS 978AF 0.812899950.18709999
ss137241108ENSEMBL_Watson 2IG1.00000000 1.00000000
ss168955216YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss202924575BANTU 2IG 1.00000000 0.500000000.50000000
ss227714633pilot_1_YRI_low_coverage_panel 118AF 0.788135590.21186441
ss237363844pilot_1_CEU_low_coverage_panel 120AF 0.683333340.31666666
ss243634940pilot_1_CHB+JPT_low_coverage_panel 120AF 0.949999990.05000000
ss96487874J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.316+/-0.2410000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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