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Reference SNP (refSNP) Cluster Report: rs11663391                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.4050/2028 (1000 Genomes)
A=0.3406/42764 (TOPMED)
HGVS Names
  • CM000680.2:g.12516769C>A
  • NC_000018.10:g.12516769C>A
  • NC_000018.9:g.12516768C>A
  • NM_001128626.1:c.730-4238G>T
  • NM_001128627.1:c.370-4238G>T
  • NM_020148.2:c.730-4238G>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 ss282909831 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11663391 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
ss16777343CSHL-HAPMAP|CSHL-HuAA-200402.chr18.NT_010859.13_12506768byFreqfwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct02/17/0405/17/04120Genomicunknown
ss21457117SSAHASNP|WGSA-200403-chr18.chr18.NT_010859.13_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct03/20/0403/20/04121Genomicunknown
ss44127517ABI|hCV31589748fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct07/18/0507/18/05126Genomicunknown
ss66668519ILLUMINA|HumanHap300v1.1_rs11663391fwd/BA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct11/09/0611/09/06127Genomicunknown
ss66942469ILLUMINA|HumanHap550v1.1_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct11/14/0611/14/06127Genomicunknown
ss67103933ILLUMINA|HumanHap650Yv1.0_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct11/14/0611/14/06127Genomicunknown
ss69208258PERLEGEN|PGP13175520byFreqfwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct01/30/0703/31/08127Genomicunknown
ss70396764ILLUMINA|HumanHap300v2.0_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct04/18/0711/18/07127Genomicunknown
ss70535365ILLUMINA|HumanHap550v3.0__rs11663391rev/BG/Taggttgggtggaaaaggggccctgttttgggggcattgaagcaaaagagtttggattgaa04/20/0703/30/08130Genomicunknown
ss71066647ILLUMINA|HumanHap650Yv3.0_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct04/23/0704/23/07127Genomicunknown
ss75729476ILLUMINA|ILMN_Human_1M_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct08/28/0708/29/07129Genomicunknown
ss84103881HGSV|Cor19129_SNV_20070510.chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct12/06/0712/06/07130Genomicunknown
ss85116640KRIBB_YJKIM|KHS903417fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct12/04/0712/08/07130Genomicunknown
ss96493465HUMANGENOME_JCVI|1103645141556fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct03/26/0803/26/08130Genomicunknown
ss1101808701000GENOMES|CEU.trio.12.15.2008_3471163_chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct12/17/0812/17/08130Genomicunknown
ss117794937ILLUMINA-UK|NA18507_000020074_NCBI36.1_chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct01/20/0901/20/09130Genomic99 %
ss121488369ILLUMINA|HumanCNV370v1_C_rs11663391fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct04/14/0904/14/09131Genomicunknown
ss136479031ENSEMBL|ENSSNP1393205byFreqfwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct12/08/0803/07/10131Genomicunknown
ss153023781ILLUMINA|Human610_Quadv1_B_rs11663391-127_B_R_1501628382rev/BG/Taggttgggtggaaaaggggccctgttttgggggcattgaagcaaaagagtttggattgaa06/18/0906/19/09131Genomicunknown
ss159182174ILLUMINA|Human660W-Quad_v1_A_rs11663391-128_B_R_1501628382rev/BG/Taggttgggtggaaaaggggccctgttttgggggcattgaagcaaaagagtttggattgaa07/06/0907/06/09131Genomicunknown
ss167834730COMPLETE_GENOMICS|NA07022_36_chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct09/30/0909/30/09132Genomicunknown
ss169169102COMPLETE_GENOMICS|NA19240_36_chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct10/01/0910/01/09132Genomicunknown
ss169909429ILLUMINA|HumanCNV370-Quadv3_C_rs11663391-127_B_R_1501628382rev/BG/Taggttgggtggaaaaggggccctgttttgggggcattgaagcaaaagagtttggattgaa10/01/0910/02/09132Genomicunknown
ss171410519ILLUMINA|Human1M-Duov3_B_rs11663391-127_B_R_1501628382rev/BG/Taggttgggtggaaaaggggccctgttttgggggcattgaagcaaaagagtttggattgaa10/01/0910/01/09132Genomicunknown
ss203006366BUSHMAN|BUSHMAN-chr18-12506767fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct02/16/1003/08/10132Genomicunknown
ss2118560151000GENOMES|YRI.trio.3.2010_1387445_chr18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct03/29/1003/30/10132Genomicunknown
ss2277510041000GENOMES|pilot_1_YRI_9560687_chr18_12506768fwd/A/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct04/22/1004/22/10132Genomicunknown
ss2373889731000GENOMES|pilot_1_CEU_6993602_chr18_12506768fwd/A/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct05/01/1005/01/10132Genomicunknown
ss2436555031000GENOMES|pilot_1_CHB+JPT_5540580_chr18_12506768fwd/A/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct05/01/1005/01/10132Genomicunknown
ss255504229BL|SNP16983_18_12506768fwd/TA/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct08/20/1008/20/10134Genomicunknown
ss282909831GMI|GMI_AK_SNP_7230250fwd/A/Cttcaatccaaactcttttgcttcaatgcccccaaaacagggccccttttccacccaacct12/16/1012/16/10137Genomicunknown
ss479557733ILLUMINA|HumanOmni2.5-4v1_B_rs11663391-128_B_R_1782879765fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc01/30/1210/28/16137Genomicunknown
ss479561985ILLUMINA|HumanOmniExpress-12v1_C_rs11663391-131_B_R_1857298280fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc01/30/1210/27/16137Genomicunknown
ss484577748ILLUMINA|HumanOmni2.5-4v1_D_rs11663391-131_B_R_1857298280fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc01/30/1210/27/16137Genomicunknown
ss536709959ILLUMINA|HumanOmni5-4v1_B_rs11663391-131_B_R_1894811985fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc06/22/1208/29/15146Genomicunknown
ss565518967TISHKOFF|snp_chr18_12516768fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/22/1211/23/12138Genomicunknown
ss661338029SSMP|18_12516768fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc12/14/1202/14/15138Genomicunknown
ss778762300ILLUMINA|HumanOmni25Exome-8v1_A_rs11663391-131_B_R_1865379011fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc05/30/1307/10/15146Genomicunknown
ss782735640ILLUMINA|HumanOmni2.5-4v1_H_rs11663391-131_B_R_1857298280fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc05/30/1307/29/15146Genomicunknown
ss783702732ILLUMINA|HumanOmniExpressExome-8v1_A_rs11663391-131_B_R_1894811985fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc05/31/1306/19/15146Genomicunknown
ss825366159ILLUMINA|HumanCNV370v1_C_rs11663391-126_B_R_IFB1156574051:0fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc06/24/1311/21/14147Genomicunknown
ss831987467ILLUMINA|HumanOmniExpress-12v1_H_rs11663391-131_B_R_1857298280fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc09/17/1306/18/15146Genomicunknown
ss834222073ILLUMINA|HumanOmni2.5-8v1_A_rs11663391-131_B_R_1865379011fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc09/18/1307/29/15146Genomicunknown
ss993510080EVA-GONL|EVA-GONL_rs11663391fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc04/23/1404/30/14142Genomicunknown
ss1081343855JMKIDD_LAB|HGDP_WGS_chr18_12516768fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc07/10/1407/12/14142Genomicunknown
ss13601914701000GENOMES|PHASE3_V1_73790854fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc08/16/1408/16/14142Genomicunknown
ss1428152687DDI|DDI_rs11663391fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/04/1411/04/14144Genomicunknown
ss1578318831EVA_GENOME_DK|EVA_GENOME_DK_snv_rs11663391fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc02/19/1502/20/15144Genomicunknown
ss1636441807EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_18_12516768_40722226fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc03/04/1503/04/15144Genomicunknown
ss1679435840EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_18_12516768_40722226fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc03/04/1503/04/15144Genomicunknown
ss1808965247HAMMER_LAB|Hsieh_7993599fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc07/15/1507/16/15146Genomicunknown
ss1936982108WEILL_CORNELL_DGM|SNV:chr18:12516768fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc10/16/1510/19/15147Genomicunknown
ss1959789519ILLUMINA|rs11663391-131_B_R_1894811985fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/13/1511/13/15147Genomicunknown
ss1968475263GENOMED|rs11663391fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc02/16/1602/16/16147Genomicunknown
ss2029263968JJLAB|SNP9766523fwd/TA/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc08/29/1608/31/16149Genomicunknown
ss2157759898USC_VALOUEV|NC_000018.9:g.12516768C>Afwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/17/1611/17/16150Genomicunknown
ss2219932601HUMAN_LONGEVITY|HLI-18-12516769-C-Afwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/18/1611/18/16150Genomicunknown
ss2385191978TOPMED|18_12516768_C/Afwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc11/19/1611/19/16150Genomicunknown
ss2629129630SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6231483fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc01/06/1701/06/17151Genomicunknown
ss2635076617ILLUMINA|Cancer_BeadChip_11459870_A_rs11663391-128_B_R_1782879765fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc02/02/1702/02/17151Genomicunknown
ss2702332994GRF|rs11663391fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc02/13/1702/13/17151Genomicunknown
ss2954273229GNOMAD|rs11663391fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc05/23/1705/23/17151Genomicunknown
ss3016182236SWEGEN|NC_000018.9:g.12516768C>Afwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc05/30/1705/30/17151Genomicunknown
ss3028459225BIOINF_KMB_FNS_UNIBA|18.12516769C>Afwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc07/05/1707/05/17151Genomicunknown
ss3272897270TOPMED|TOPMed_freeze_5?chr18:12,516,769fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc10/01/1710/01/17151Genomicunknown
ss3351926924CSHL|rs11663391fwd/A/Ctccaaactcttttgcttcaatgcccccaaaacagggccccttttccaccc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11663391|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 AGAACATGAC CTAGACCAGC CAGCACAGCC TATCTCCTGG CCACTGTGAC TGGTTACTAA
 GTGGGTATAT GACTCCAAAT CTTCCTCTAA GACTTTTTTG CCCCAATTAA CAGAAAAGAT
 TTGCTGCCAG AGTTCTAAAT TGATAGAGTG TGAGAATAGG GCTGCAGACG GTAGTAAGAG
 ACTGTCCTGG AAAGGGTTGG AGAGGAAAGG GAGGGAGCAT GCCAGCCCTA ATTACAGCCT
 TTGAGATTCT GGATCCAACT ATGCCTAAAA CTAGCTGTAC CCTTAGACTT CCTAATTATG
 TGAGCCAATA CATCTCTCCC CTACTCTGCC CATGCTTATT TGAGTGGGTT TCTGTCATCT
 GCAACTGAAA GTTACGATTT AATATGTCCT TAATAGTCTA CAAATATGAG TTCATGCTTT
 TATGTCTTAG GGGTACTTTG GTAGAATAGT GTGAGAAGCA GCAAAATATA TTCAATCCAA
 ACTCTTTTGC TTCAATGCCC
 M
 CCAAAACAGG GCCCCTTTTC CACCCAACCT TAATTTTTAC TATTCTCCGA CACATCCCTG
 ACTAAATGTA GTCAGGAGGG TGTCACTGTT AGGCCTGCCT ACATCTCTAC CTTTATTTGT
 GCTGTGATCA AATCCCTCAC TCATTGCCAC TAAGAAAAAC TATCTGTTCT TTATAACATT
 GAAGACAATT GAAATGGTCC AAGAATTTCA CATTTCTTTG TTTTTCTGAA CAATAGCACA
 AACTGTAGCT CAGATACTTT CCAGCTGCGT GACTTTGGGG AAATTTTTAA ATTGCTGTAA
 TCCTGTTTGA TTTTCTCATA TATTAAAGTG CAAATAATAA TAGCTATCTT TTGGATTTTA
 TAGAAGAAAT ATACCAGAAG AATACAGATG AAACACAGCA TTCAGTTCAG ACCATATTGA
 ACATTCAGTA GGTATTAGTT ATTATGTCAA TGAATACCTA TGAGGATTTG ATTGTGAATA
 CTTTTACTCC ATCACAAAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010859 ABBA01074023
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
ss117794937YRI 2IG 1.00000000 0.500000000.50000000
ss1360191470EAS 1008AF 0.394800010.60520005
EUR 1006AF 0.401600000.59840000
AFR 1322AF 0.333599980.66639996
AMR 694AF 0.363099990.63690001
SAS 978AF 0.545000020.45499998
ss136479031ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss16777343HapMap-CEUEuropean 218IG0.064220180.605504570.330275240.002501000.366972480.63302749
HapMap-HCBAsian 82IG0.268292700.439024390.292682920.438578000.487804890.51219511
HapMap-JPTAsian 164IG0.292682920.512195110.195121941.000000000.548780500.45121950
HapMap-YRISub-Saharan African 216IG0.083333340.472222210.444444450.371093000.319444450.68055558
HAPMAP-ASW 92IG0.108695650.543478250.347826090.317310000.380434780.61956519
HAPMAP-CHBAsian 80IG0.200000000.324999990.474999990.099721000.362500010.63749999
HAPMAP-CHD 164IG0.195121940.426829280.378048780.294266000.408536580.59146339
HAPMAP-GIH 176IG0.420454530.397727280.181818190.150222000.619318190.38068181
HAPMAP-MKK 280IG0.264285710.557142850.178571430.150222000.542857170.45714286
HAPMAP-TSI 176IG0.215909090.488636370.295454531.000000000.460227280.53977275
ss167834730CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss169169102YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss227751004pilot_1_YRI_low_coverage_panel 118AF 0.245762710.75423729
ss237388973pilot_1_CEU_low_coverage_panel 120AF 0.324999990.67500001
ss243655503pilot_1_CHB+JPT_low_coverage_panel 120AF 0.474999990.52499998
ss96493465J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.482+/-0.0930000ALFRED: 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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