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Reference SNP (refSNP) Cluster Report: rs11246226                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.4772/2390 (1000 Genomes)
A=0.4822/60552 (TOPMED)
HGVS Names
  • CM000673.2:g.641191C>A
  • NC_000011.10:g.641191C>A
  • NC_000011.9:g.641191C>A
  • NG_021241.1:g.8887C>A
  • NM_000797.3:c.*103+485C>A
  • NT_187586.1:g.171060A=
  • NT_187586.1:g.171060A>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 ss280847884 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11246226 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
ss16035702SC_SNP|NT_035113.5_581419fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg11/18/0310/26/06120Genomicunknown
ss18491337SC_SNP|SC-CHR9-12_NA11321-200402.chr11.NT_035113.5_581419fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg02/20/0403/04/04120Genomicunknown
ss38780131ABI|hCV1611519byFreqfwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg07/16/0511/02/06126Genomicunknown
ss66827046ILLUMINA|HumanHap300v1.1_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg11/09/0611/09/06127Genomicunknown
ss66928978ILLUMINA|HumanHap550v1.1_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg11/14/0611/14/06127Genomicunknown
ss67085022ILLUMINA|HumanHap650Yv1.0_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg11/14/0611/14/06127Genomicunknown
ss70392936ILLUMINA|HumanHap300v2.0_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg04/18/0711/18/07127Genomicunknown
ss70526952ILLUMINA|HumanHap550v3.0__rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg04/20/0703/30/08130Genomicunknown
ss71057036ILLUMINA|HumanHap650Yv3.0_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg04/23/0704/23/07127Genomicunknown
ss75922173ILLUMINA|ILMN_Human_1M_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg08/28/0708/29/07129Genomicunknown
ss79755535HGSV|Cor18507_SNV_20070510.chr11_631191fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg11/23/0711/23/07130Genomicunknown
ss85094369KRIBB_YJKIM|KHS897176fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg12/04/0712/08/07130Genomicunknown
ss88424756BCMHGSC_JDW|JWB-0361719fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg02/26/0802/27/08129Genomicunknown
ss102930408BGI|BGI_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg06/05/0810/20/09131Genomicunknown
ss118439629ILLUMINA-UK|NA18507_000000654_NCBI36.1_chr11_631191fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg01/21/0902/05/09130Genomic99 %
ss121465744ILLUMINA|HumanCNV370v1_C_rs11246226fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg04/14/0904/14/09131Genomicunknown
ss132224103ENSEMBL|ENSSNP5735972fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg05/11/0905/13/09131Genomicunknown
ss137676899ENSEMBL|ENSSNP602273fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg12/08/0810/15/09131Genomicunknown
ss152976250ILLUMINA|Human610_Quadv1_B_rs11246226-128_T_F_1501627294fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg06/18/0906/19/09131Genomicunknown
ss155801290GMI|GMI_SNP_33612425fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg06/24/0906/24/09131Genomicunknown
ss159172966ILLUMINA|Human660W-Quad_v1_A_rs11246226-128_T_F_1501627294fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg07/06/0907/06/09131Genomicunknown
ss159974501ILLUMINA|HumanOmni1-Quad_v1-0_B_rs11246226-128_T_F_1501627294fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg08/04/0910/01/09131Genomicunknown
ss167619206COMPLETE_GENOMICS|NA07022_36_chr11_631191fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg09/30/0909/30/09132Genomicunknown
ss169841926ILLUMINA|HumanCNV370-Quadv3_C_rs11246226-128_T_F_1501627294fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg10/01/0910/02/09132Genomicunknown
ss170227434COMPLETE_GENOMICS|NA20431_36_chr11_631191fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg10/01/0910/05/09132Genomicunknown
ss171215007ILLUMINA|Human1M-Duov3_B_rs11246226-128_T_F_1501627294fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg10/01/0910/01/09132Genomicunknown
ss202283005BUSHMAN|BUSHMAN-chr11-631190fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg02/16/1003/08/10132Genomicunknown
ss207912070BCM-HGSC-SUB|BCM_CMT_1011-2261306fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg03/15/1003/19/10132Genomicunknown
ss2250444791000GENOMES|pilot_1_YRI_6854162_chr11_631191fwd/A/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg04/22/1004/22/10132Genomicunknown
ss2354100881000GENOMES|pilot_1_CEU_5014717_chr11_631191fwd/A/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg05/01/1005/01/10132Genomicunknown
ss2420719301000GENOMES|pilot_1_CHB+JPT_3957007_chr11_631191fwd/A/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg05/01/1005/01/10132Genomicunknown
ss254808415BL|SNP956_11_631191fwd/TA/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg08/19/1008/19/10134Genomicunknown
ss280847884GMI|GMI_AK_SNP_5168237fwd/A/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg12/16/1012/16/10137Genomicunknown
ss291029012PJP|SNP_535370_chr11_631191fwd/A/Cagcttcctgccagtccctggccagaggatgcccaagccccacagcaaggggcctgtggtg01/21/1101/21/11134Genomicunknown
ss479510441ILLUMINA|HumanOmni2.5-4v1_B_rs11246226-128_T_F_1617353917fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg01/30/1210/28/16137Genomicunknown
ss479514363ILLUMINA|HumanOmniExpress-12v1_C_rs11246226-131_T_F_1853256642fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg01/30/1210/27/16137Genomicunknown
ss479963767ILLUMINA|HumanOmni1-Quad_v1-0_C_rs11246226-131_T_F_1853256642fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg01/30/1208/28/15146Genomicunknown
ss484554459ILLUMINA|HumanOmni2.5-4v1_D_rs11246226-131_T_F_1853256642fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg01/30/1210/27/16137Genomicunknown
ss562328163TISHKOFF|snp_chr11_641191fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/22/1211/23/12138Genomicunknown
ss657646267SSMP|11_641191fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg12/14/1202/12/15138Genomicunknown
ss782723890ILLUMINA|HumanOmni2.5-4v1_H_rs11246226-131_T_F_1853256642fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg05/30/1307/29/15146Genomicunknown
ss825362331ILLUMINA|HumanCNV370v1_C_rs11246226-126_T_F_IFB1153210095:0fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg06/24/1311/21/14144Genomicunknown
ss831975525ILLUMINA|HumanOmniExpress-12v1_H_rs11246226-131_T_F_1853256642fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg09/17/1306/18/15146Genomicunknown
ss988115933EVA-GONL|EVA-GONL_rs11246226fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg04/23/1404/25/14142Genomicunknown
ss1077438005JMKIDD_LAB|HGDP_WGS_chr11_641191fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg07/10/1407/12/14142Genomicunknown
ss13397810211000GENOMES|PHASE3_V1_52529925fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg08/16/1408/16/14142Genomicunknown
ss1426504279DDI|DDI_rs11246226fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/04/1411/04/14144Genomicunknown
ss1575467373EVA_GENOME_DK|EVA_GENOME_DK_snv_rs11246226fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg02/19/1502/19/15144Genomicunknown
ss1597794575EVA_DECODE|EVA_DECODE_11_631191_4352_rs11246226fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg03/02/1503/04/15144Genomicunknown
ss1625821907EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_641191_29031981fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg03/04/1503/04/15144Genomicunknown
ss1668815940EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_641191_29031981fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg03/04/1503/04/15144Genomicunknown
ss1713226581EVA_SVP|EVA_SVP_920948fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg03/12/1503/12/15144Genomicunknown
ss1752026324ILLUMINA|OmniExpressExome-8v1-1_B_rs11246226-131_T_F_1908672033fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg05/27/1506/09/15146Genomicunknown
ss1806653415HAMMER_LAB|Hsieh_5672494fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg07/15/1507/16/15146Genomicunknown
ss1931476800WEILL_CORNELL_DGM|SNV:chr11:641191fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg10/16/1510/17/15147Genomicunknown
ss1959313742ILLUMINA|11:641191-C-A-0_T_F_2304289473fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/13/1511/13/15147Genomicunknown
ss1967270243GENOMED|rs11246226fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg02/16/1602/16/16147Genomicunknown
ss2026478777JJLAB|SNP6981332fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg08/29/1608/30/16149Genomicunknown
ss2094865866ILLUMINA|Immuno_BeadChip_11419691_B_imm_11_631191-1_T_F_1670059314fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg09/27/1609/27/16150Genomicunknown
ss2095018886ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_11_631191-1_T_F_2310559133fwd/TA/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg09/27/1609/27/16150Genomicunknown
ss2154763660USC_VALOUEV|NC_000011.9:g.641191C>Afwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/17/1611/17/16150Genomicunknown
ss2179548822HUMAN_LONGEVITY|HLI-11-641191-C-Afwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/18/1611/18/16150Genomicunknown
ss2342664308TOPMED|11_641191_C/Afwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg11/19/1611/19/16150Genomicunknown
ss2627708513SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4422842fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg01/06/1701/06/17151Genomicunknown
ss2632789102ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs11246226-131_T_F_1908672fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg02/02/1702/02/17151Genomicunknown
ss2699030338GRF|rs11246226fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg02/13/1702/13/17151Genomicunknown
ss2895385173GNOMAD|rs11246226fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg05/22/1705/22/17151Genomicunknown
ss2985576931AFFY|Axiom_Smokesc1_Affx-5640454fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg05/24/1705/24/17151Genomicunknown
ss3007450266SWEGEN|NC_000011.9:g.641191C>Afwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg05/30/1705/30/17151Genomicunknown
ss3021296017ILLUMINA|MEGA_Consortium_v2_15070954_A2_11:641191-C-A-0_T_F_2304289473fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg06/28/1706/28/17151Genomicunknown
ss3027031528BIOINF_KMB_FNS_UNIBA|11.641191C>Afwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg07/05/1707/05/17151Genomicunknown
ss3134974401TOPMED|TOPMed_freeze_5?chr11:641,191fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg09/30/1709/30/17151Genomicunknown
ss3349406220CSHL|rs11246226fwd/A/Ccctgccagtccctggccagaggatgcccaagccccacagcaaggggcctg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11246226|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 CAAATTCCTT CCCAAACTCA GCTGTGAAGG CTCCTGGGGG CTGATGGGGA GTGGGGAAGA
 GGGGTTTCTG CCTCAGTGGC CCCAGGCCCC CCAGCCAGTT AACCTCTTTC TCCCCGCCAA
 GGAAGCCCAC AGAGCAGACC CCACCAAGCC GGCCGCCTGC TCAGGGTGAG GGGGGAAGGG
 GCCCCCGAGA GCCACTCAGT TCCGCAGCGC TGGGGCCCAG CTTCCCCTCT CTGCAGGGGA
 GAGGAAGCAG CACCCAGCAG GGCAAGGTGT CTCCTGGGGA AGCCCAGTTC CGATGGGAAG
 AAACAAATGG GGAGAGGCGG GGTGGGGGGC TGTCAGCCGC CAGGCCCTGC CCGGGCCAAC
 TCCCACCTCT GAGAACCAGG CACAGGGGGC TCCAGGCTCA TGCTGCCCCA GCAGACCCCG
 GCAGGGGAGC CCAACCTGTC ATTTTAGAAG CTGCCTTGAG GCCAGAGCCT AGCTTCCTGC
 CAGTCCCTGG CCAGAGGATG
 M
 CCCAAGCCCC ACAGCAAGGG GCCTGTGGTG ATGGGTGGGG CCCCACCAAG TGGCTTCCCT
 GGAGGGAGCT CCGTGCTCAG TCACCCCTGG TGCCCAGCCA ACCTCTGCCC AGCGTCCACC
 AATGTGGCTG GGCCAAGGGG TGGGAGCAGG GAGGCGGCAG CGGGGCCAGG GGCTGGGCAG
 AGCGACCCAA GCTGCCTGTC TGCACCCTGG CTCCATCAAC CAGTGCAGCC CCTGACCCTG
 GGGGAAGAGG GGCGGCTCCC AGGGCCCTCC ATGCAGGAAC AGCCTACCCT GGACTGGATC
 CAGCTCTCTC CCAGGCCCAG GTTGTGGGAG AAATGGGGGA CCCTCCGCCT CCCAATCGTG
 CTGGCTGGAA CTTTCCTGTG CTGGGGATTC GGCGTTTGCA GCCAGGGTGG CCAGTCAGGG
 TGCCAGGCTC CCATCTGAAC ACTGACAGAC TGTGGGCTGT GCAGTCTACA GCATTGGGCA
 CAACCTCAGC TTGCTAAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035113
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/C
C/C
HWPA
C
ss118439629YRI 2IG 1.00000000 0.500000000.50000000
ss132224103ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1339781021EAS 1008AF 0.722199980.27779999
EUR 1006AF 0.503000020.49700001
AFR 1322AF 0.344899980.65509999
AMR 694AF 0.481299970.51870000
SAS 978AF 0.607399940.39260000
ss137676899ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss167619206CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss170227434PGP 2IG 1.00000000 0.500000000.50000000
ss202283005BANTU 2IG 1.00000000 0.500000000.50000000
ss225044479pilot_1_YRI_low_coverage_panel 118AF 0.220338990.77966100
ss235410088pilot_1_CEU_low_coverage_panel 120AF 0.383333330.61666667
ss242071930pilot_1_CHB+JPT_low_coverage_panel 120AF 0.766666650.23333333
ss38780131HapMap-CEUEuropean 226IG0.230088500.557522120.212389380.250592000.508849560.49115044
HapMap-HCBAsian 86IG0.558139560.418604640.023255810.273322000.767441870.23255815
HapMap-JPTAsian 172IG0.534883740.372093020.093023260.527089000.720930220.27906978
HapMap-YRISub-Saharan African 222IG0.135135130.540540520.324324310.250592000.405405400.59459460
HAPMAP-ASW 98IG0.142857150.632653060.224489790.099721000.459183660.54081631
HAPMAP-CHBAsian 82IG0.560975610.390243890.048780490.751830000.756097560.24390244
HAPMAP-CHD 170IG0.564705910.352941190.082352940.479500000.741176490.25882354
HAPMAP-GIH 174IG0.287356320.471264360.241379310.654721000.522988500.47701150
HAPMAP-LWK 176IG0.068181820.363636370.568181811.000000000.250000000.75000000
HAPMAP-MEX 100IG0.160000000.560000000.280000000.342782000.440000000.56000000
HAPMAP-MKK 284IG0.176056340.464788730.359154940.654721000.408450690.59154928
HAPMAP-TSI 176IG0.238636360.465909090.295454530.583882000.471590910.52840906

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.499+/-0.0230000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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