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Reference SNP (refSNP) Cluster Report: rs10500569                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1126/564 (1000 Genomes)
T=0.1837/23064 (TOPMED)
HGVS Names
  • CM000678.2:g.72722202G>A
  • CM000678.2:g.72722202G>C
  • CM000678.2:g.72722202G>T
  • NC_000016.10:g.72722202G>A
  • NC_000016.10:g.72722202G>C
  • NC_000016.10:g.72722202G>T
  • NC_000016.9:g.72756101G>T
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 ss282586454 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10500569 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
ss14892946PERLEGEN|PS01644026byFreqfwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt11/13/0304/07/04119Genomicunknown
ss24432416PERLEGEN|afd1644026byFreqfwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt08/10/0409/13/04123Genomicunknown
ss43885066ABI|hCV2834939byFreqfwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt07/18/0511/03/06126Genomicunknown
ss65998216AFFY|SNP_A-1740328fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/26/0610/26/06127Genomicunknown
ss66633130ILLUMINA|HumanHap300v1.1_rs10500569fwd/TG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt11/09/0611/09/06127Genomicunknown
ss66889683ILLUMINA|HumanHap550v1.1_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt11/14/0611/14/06127Genomicunknown
ss66991806ILLUMINA|HumanHap650Yv1.0_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt11/14/0611/14/06127Genomicunknown
ss69348041PERLEGEN|PGP01644026byFreqfwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt01/30/0703/31/08127Genomicunknown
ss70370981ILLUMINA|HumanHap300v2.0_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt04/18/0711/18/07127Genomicunknown
ss70485585ILLUMINA|HumanHap550v3.0__rs10500569rev/TA/Caacgtcctaagctatcacatagcagtcggttatttttaggaggccccctgtggtggtgac04/20/0703/30/08130Genomicunknown
ss71009725ILLUMINA|HumanHap650Yv3.0_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt04/23/0704/23/07127Genomicunknown
ss75514970ILLUMINA|ILMN_Human_1M_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt08/28/0708/29/07129Genomicunknown
ss78717695HGSV|Cor12878_SNV_20070510.chr16_71313602fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt10/17/0710/20/07129Genomicunknown
ss84959728KRIBB_YJKIM|KHS859954fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt12/04/0712/08/07130Genomicunknown
ss90438985BCMHGSC_JDW|JWB-0963702fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt02/26/0802/29/08129Genomicunknown
ss1094241211000GENOMES|CEU.trio.12.15.2008_3315584_chr16_71313602fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt12/16/0812/16/08130Genomicunknown
ss121336749ILLUMINA|HumanCNV370v1_C_rs10500569fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt04/14/0904/14/09131Genomicunknown
ss136795952ENSEMBL|ENSSNP11156360fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt05/11/0905/15/09131Genomicunknown
ss152761143ILLUMINA|Human610_Quadv1_B_rs10500569-128_T_R_1501603562rev/TA/Caacgtcctaagctatcacatagcagtcggttatttttaggaggccccctgtggtggtgac06/18/0906/19/09131Genomicunknown
ss159130507ILLUMINA|Human660W-Quad_v1_A_rs10500569-128_T_R_1501603562rev/TA/Caacgtcctaagctatcacatagcagtcggttatttttaggaggccccctgtggtggtgac07/06/0907/06/09131Genomicunknown
ss168438488COMPLETE_GENOMICS|NA07022_36_chr16_71313602fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt09/30/0910/01/09132Genomicunknown
ss169472611ILLUMINA|HumanCNV370-Quadv3_C_rs10500569-128_T_R_1501603562rev/TA/Caacgtcctaagctatcacatagcagtcggttatttttaggaggccccctgtggtggtgac10/01/0910/02/09132Genomicunknown
ss170236267ILLUMINA|Human1M-Duov3_B_rs10500569-128_T_R_1501603562rev/TA/Caacgtcctaagctatcacatagcagtcggttatttttaggaggccccctgtggtggtgac10/01/0910/01/09132Genomicunknown
ss2370766431000GENOMES|pilot_1_CEU_6681272_chr16_71313602fwd/G/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt05/01/1005/01/10132Genomicunknown
ss2434066451000GENOMES|pilot_1_CHB+JPT_5291722_chr16_71313602fwd/G/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt05/01/1005/01/10132Genomicunknown
ss255797015BL|SNP76684_16_71313602fwd/BG/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt08/20/1008/20/10134Genomicunknown
ss282586454GMI|GMI_AK_SNP_6906871fwd/G/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt12/16/1012/16/10137Genomicunknown
ss287097964GMI|GMI_NA10851_SNP_3110755fwd/G/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt12/17/1012/17/10138Genomicunknown
ss291869588PJP|SNP_1375946_chr16_71313602fwd/G/Tgtcaccaccacagggggcctcctaaaaataaccgactgctatgtgatagcttaggacgtt01/21/1101/21/11134Genomicunknown
ss536615564ILLUMINA|HumanOmni5-4v1_B_rs10500569-131_T_R_1908656447fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg06/22/1208/29/15146Genomicunknown
ss564986925TISHKOFF|snp_chr16_72756101fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/22/1211/23/12138Genomicunknown
ss660764599SSMP|16_72756101fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg12/14/1202/14/15138Genomicunknown
ss825340592ILLUMINA|HumanCNV370v1_C_rs10500569-126_T_R_IFB1135544733:0fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg06/24/1311/21/14144Genomicunknown
ss992639339EVA-GONL|EVA-GONL_rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg04/23/1404/30/14142Genomicunknown
ss1080727341JMKIDD_LAB|HGDP_WGS_chr16_72756101fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg07/10/1407/12/14142Genomicunknown
ss13568237121000GENOMES|PHASE3_V1_70286364fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg08/16/1408/16/14142Genomicunknown
ss1397718885HAMMER_LAB|HAMMER_LAB_rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg09/30/1409/30/14146Genomicunknown
ss1427887193DDI|DDI_rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/04/1411/04/14144Genomicunknown
ss1577971276EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg02/19/1502/19/15144Genomicunknown
ss1696676275EVA_DECODE|EVA_DECODE_16_71313602_470568_rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg03/02/1503/04/15144Genomicunknown
ss1713549093EVA_SVP|EVA_SVP_1243460fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg03/12/1503/12/15144Genomicunknown
ss1936069908WEILL_CORNELL_DGM|SNV:chr16:72756101fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/16/1510/19/15147Genomicunknown
ss1959693654ILLUMINA|rs10500569-138_T_R_2264352419fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/13/1511/13/15147Genomicunknown
ss1968291867GENOMED|rs10500569fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg02/16/1602/16/16147Genomicunknown
ss2028818469JJLAB|SNP9321024fwd/BG/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg08/29/1608/31/16149Genomicunknown
ss2157261462USC_VALOUEV|NC_000016.9:g.72756101G>Tfwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/17/1611/17/16150Genomicunknown
ss2213351325HUMAN_LONGEVITY|HLI-16-72722202-G-Tfwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/18/1611/18/16150Genomicunknown
ss2378097301TOPMED|16_72756101_G/Tfwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg11/19/1611/19/16150Genomicunknown
ss2944709296GNOMAD|rs10500569fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg05/23/1705/23/17151Genomicunknown
ss2985074216AFFY|Axiom_PsorMich_Affx-13139037fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg05/24/1705/24/17151Genomicunknown
ss2985708033AFFY|Axiom_Smokesc1_Affx-13139037fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg05/24/1705/24/17151Genomicunknown
ss3014753049SWEGEN|NC_000016.9:g.72756101G>Tfwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg05/30/1705/30/17151Genomicunknown
ss3021722351ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs10500569-138_T_R_2264352419fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg06/28/1706/28/17151Genomicunknown
ss3028226180BIOINF_KMB_FNS_UNIBA|16.72722202G>Tfwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg07/05/1707/05/17151Genomicunknown
ss3250450241TOPMED|TOPMed_freeze_5?chr16:72,722,202-01fwd/A/Gcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/01/1710/01/17151Genomicunknown
ss3250450242TOPMED|TOPMed_freeze_5?chr16:72,722,202-02fwd/C/Gcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/01/1710/01/17151Genomicunknown
ss3250450243TOPMED|TOPMed_freeze_5?chr16:72,722,202-03fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/01/1710/01/17151Genomicunknown
ss3351516140CSHL|rs10500569fwd/G/Tcaccacagggggcctcctaaaaataaccgactgctatgtgatagcttagg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10500569|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 CATGGTAGGA CTGCTTTCTC CCATTAGAGA GTTGGAGGAT TATTGGAAAA TCCTAGTACA
 ATTTCTGAAG TACAAACTTA ACCACAGAGA CGTTTCCCCA CATGAAATGT TTAGTGACAG
 TTGGGGTGGA AATAGGGGTC CATTGACCTG GGTGTCAGTC CTAACATACC CAGTTCACTG
 TGTCACCTTT AATAATGTAC AGTTTGTGCT TCAACCTAGA ATCTGCAGAG ACTCTCTCCT
 GTTCCTTACC CCTTTCATTG ATACCAGAAG TAGTAGAAAG ATTGACCTTT GTGAAGCTTA
 CTAAAATTCT TCTGCATCTT CAGGTAATTC ACAGGGATGA GGAAAATAAA AAATAGAAAA
 AAATTAATAA AATTCTTCTA CAAAACTGCA ATACCGTGCA GAGATTATTG AGAAGGTGTG
 TGCAGAATTG CTGGTTTTTC AAACTAGATA AAACAGTAGT ACCTATTCAA GTCACCACCA
 CAGGGGGCCT CCTAAAAATA
 N
 ACCGACTGCT ATGTGATAGC TTAGGACGTT TTTATTGATA TCATCTCTTG TCCTGCCGAA
 AGAAAAGCCT TGAGCCTGGA AGGAGGAATT AGAGTGTATT TTCCTAGGAA ACTGGTGCCA
 CAGTAAACTG TATGTCTGTT TGTTCTTGAA GCTGACCTAG CAATTACCTT GGAATACTAG
 GGCTCTATAT TTTTCTAAAT GTTTTTTCCT TCTACTTCAT CATTCCTGAT GAAAGAAAGA
 AAACAGTATA AAGAAAAGCT ACAGGTTACT CTGAATACAC ACCAAGTTTT GTTGGGGAGT
 AGTTGTCTTA GGTGACACTC TGACCACAGC ACTAAGAGCT ACACTGGTGT AGTGAGGAAA
 GCGTGGCCCT TTTGAATCAT AACGTGCTGT TCATTTCTAT TCCCATTGCT TCTCCTAGGA
 TTTCTTATCT CTTGCCCTAG CAAACCATAA CACATAGACA CACACACCCA TCCCTGTCCA
 GTGCACCCAG TGGGGGGGAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016.8
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.
SourceG/G
G/T
T/T
HWPG
T
ss1356823712EAS 1008AF 0.971199990.02880000
EUR 1006AF 0.706799980.29319999
AFR 1322AF 0.988699970.01130000
AMR 694AF 0.835700040.16429999
SAS 978AF 0.886500000.11350000
ss136795952ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss14892946AfAmAfrican American 12IG1.00000000 1.00000000
CaucasianEuropean 24IG0.750000000.166666670.083333340.200325000.833333310.16666667
AsianAsian 12IG1.00000000 1.00000000
CEPHEuropean 10IG0.800000010.20000000 0.899999980.10000000
PDpanelGlobal 48IG0.791666690.166666670.041666670.250592000.875000000.12500000
ss168438488CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss237076643pilot_1_CEU_low_coverage_panel 120AF 0.699999990.30000001
ss243406645pilot_1_CHB+JPT_low_coverage_panel 120AF 0.933333340.06666667
ss24432416AFD_EUR_PANELEuropean 48IG0.625000000.333333340.041666671.000000000.791666690.20833333
AFD_AFR_PANELAfrican American 46IG0.913043500.08695652 1.000000000.956521750.04347826
AFD_CHN_PANELAsian 48IG1.00000000 1.00000000
ss43885066HapMap-CEUEuropean 224IG0.508928600.410714300.080357141.000000000.714285730.28571430
HapMap-HCBAsian 86IG0.976744170.02325581 1.000000000.988372090.01162791
HapMap-JPTAsian 172IG0.813953460.18604651 0.751830000.906976760.09302326
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
AoD_African_American 90AF 0.940000000.06000000
AoD_Caucasian 92AF 0.759999990.23999999
AoD_Japanese 90AF 0.889999990.11000000
HAPMAP-ASW 96IG0.916666690.08333334 1.000000000.958333310.04166667
HAPMAP-CHBAsian 82IG0.951219500.04878049 1.000000000.975609780.02439024
HAPMAP-GIH 176IG0.772727250.215909090.011363641.000000000.880681810.11931818
HAPMAP-LWK 180IG0.977777780.02222222 1.000000000.988888860.01111111
HAPMAP-MEX 100IG0.759999990.23999999 0.654721000.880000000.12000000
HAPMAP-MKK 286IG0.762237790.23776224 0.479500000.881118890.11888112
HAPMAP-TSI 176IG0.545454560.386363630.068181821.000000000.738636370.26136363
ss69348041HapMap-CEUEuropean 120IG0.483333320.416666660.100000001.000000000.691666660.30833334
HapMap-HCBAsian 90IG0.977777780.02222222 1.000000000.988888860.01111111
HapMap-JPTAsian 90IG0.777777790.22222222 0.751830000.888888900.11111111
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.200+/-0.2450000ALFRED: 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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