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Reference SNP (refSNP) Cluster Report: rs11166777                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1442/722 (1000 Genomes)
C=0.2085/26180 (TOPMED)
HGVS Names
  • CM000670.2:g.138065797T>C
  • NC_000008.10:g.139078040T>C
  • NC_000008.11:g.138065797T>C
  • NM_001354876.1:c.249+17260A>G
  • XR_001746110.1:n.489+17260A>G
  • XR_001746111.1:n.489+17260A>G
  • XR_001746112.1:n.489+17260A>G
  • XR_001746113.1:n.634-1495A>G
  • XR_108892.2:n.489+17260A>G
  • XR_928697.2:n.489+17260A>G
Links
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 ss17198369 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11166777 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
ss17198369CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_028251.11_3603110byFreqfwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg02/17/0410/26/06120Genomicunknown
ss19736158CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_028251.11_3603110fwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg02/20/0403/04/04120Genomicunknown
ss22663844SSAHASNP|WGSA-200403-chr8.chr8.NT_028251.11_3603110fwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg03/21/0403/21/04121Genomicunknown
ss43222332ABI|hCV1945639fwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg07/18/0507/18/05126Genomicunknown
ss133456340ENSEMBL|ENSSNP2761564byFreqfwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg12/08/0803/07/10131Genomicunknown
ss167228056COMPLETE_GENOMICS|NA20431_36_chr8_139147222fwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg09/30/0909/30/09132Genomicunknown
ss208662653BCM-HGSC-SUB|BCM_CMT_1011-1689826fwd/BC/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg03/15/1003/20/10132Genomicunknown
ss2240282931000GENOMES|pilot_1_YRI_5837976_chr8_139147222fwd/C/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg04/22/1004/22/10132Genomicunknown
ss2346623811000GENOMES|pilot_1_CEU_4267010_chr8_139147222fwd/C/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg05/01/1005/01/10132Genomicunknown
ss285940667GMI|GMI_NA10851_SNP_1953440fwd/C/Tagtcttgatccaattctagaggttctctatatgcgacttagagtggatcttttaaaagtg12/17/1012/17/10138Genomicunknown
ss561125331TISHKOFF|snp_chr8_139078040fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa11/22/1211/23/12138Genomicunknown
ss655557871SSMP|8_139078040fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa12/14/1202/12/15138Genomicunknown
ss986143130EVA-GONL|EVA-GONL_rs11166777fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa04/23/1404/25/14142Genomicunknown
ss1075983874JMKIDD_LAB|HGDP_WGS_chr8_139078040fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa07/10/1407/11/14142Genomicunknown
ss13322366591000GENOMES|PHASE3_V1_44681954fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa08/16/1408/16/14142Genomicunknown
ss1431697631DDI|DDI_rs11166777fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa11/04/1411/05/14144Genomicunknown
ss1582921072EVA_GENOME_DK|EVA_GENOME_DK_snv_rs11166777fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa02/19/1502/20/15144Genomicunknown
ss1595763949EVA_DECODE|EVA_DECODE_8_139147222_1142676_rs11166777fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa03/02/1503/03/15144Genomicunknown
ss1621910066EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_139078040_24740488fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa03/04/1503/04/15144Genomicunknown
ss1664904099EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_139078040_24740488fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa03/04/1503/04/15144Genomicunknown
ss1805800886HAMMER_LAB|Hsieh_4816458fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa07/15/1507/16/15146Genomicunknown
ss1929417011WEILL_CORNELL_DGM|SNV:chr8:139078040fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa10/16/1510/17/15147Genomicunknown
ss1971114965GENOMED|rs11166777fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa02/16/1602/16/16147Genomicunknown
ss2025414345JJLAB|SNP5916900fwd/BC/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa08/29/1608/30/16149Genomicunknown
ss2153642453USC_VALOUEV|NC_000008.10:g.139078040T>Cfwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa11/17/1611/17/16150Genomicunknown
ss2308045456HUMAN_LONGEVITY|HLI-8-138065797-T-Cfwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa11/18/1611/18/16150Genomicunknown
ss2478028885TOPMED|8_139078040_T/Cfwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa11/20/1611/20/16150Genomicunknown
ss2873590551GNOMAD|rs11166777fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa05/19/1705/19/17151Genomicunknown
ss3004125789SWEGEN|NC_000008.10:g.139078040T>Cfwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa05/30/1705/30/17151Genomicunknown
ss3026494925BIOINF_KMB_FNS_UNIBA|8.138065797T>Cfwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa07/05/1707/05/17151Genomicunknown
ss3348445126CSHL|rs11166777fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa10/02/1710/02/17151Genomicunknown
ss3577806951TOPMED|TOPMed_freeze_5?chr8:138,065,797fwd/C/Ttgatccaattctagaggttctctatatgcgacttagagtggatcttttaa10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11166777|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TACAAGCCTC CAGGTCAAAT TGCTTTGGGA AACTATGGGC TAAATAATGT TAAAGAAGTT
 TTTTGGCTGC ACAATTTCTT AGAGCTTTGA ATAAACTACA TATAAGTTCA AATATATGAT
 ATCTTCCCTA CATTTGAATC TATTTCTAac ttgatatctc tatggaatat ttaataaaca
 gctcgagcct aacatgtgca aacgtgcttt ttggttcttt tttctcagat tcttgatcct
 cttgttgact tcttcctaac tggaaacatt ttccagttgt ggaggccaaa atctttgttt
 taccctcgat tcaccttgtt ttgaaatata aacagaaata atcctcagat tctgcctttt
 caggcattct aaataaatcc gcaatctctg ctcaccccaa ctaaactggt ccaaatcacc
 atgatttcta actcgcatta ttataacttc taaatagtcc ccctgcttct agtcttgatc
 caattctaga ggttctctat
 Y
 atgcgactta gagtggatct tttaaaagtg taagtcagac tgtaaccttt cttatctgat
 caaaatcttc cactggcttc tttttgtatt tggaagaaaa ttacaaatcc ttaccatcgg
 cttcaaggaa taatatcaca tggctcttgg ctacctctcc cactttcttt ccacctgccc
 ctcatcccca cctcagctat tcttcttttc tctcactcat gtatgccaac tactcgtcta
 cccccatgga cttttgtatc tgctttaacc tatgcctgcc atgttctttt ccTTGatata
 tatatatata cacacatata tatatacaca cacacatata tatatattcc ttgatatata
 tatatattcc ttgatatata tatattcctt gatatgtatg tgtatatata tatTCCTTGa
 tatatatatt ccttgatata tatattcctt gatatatata tatagtcctt gatatatata
 ttccttgata tatatatTCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_028251
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
ss1332236659EAS 1008AF 0.009900000.99010003
EUR 1006AF 0.237600000.76240003
AFR 1322AF 0.173200000.82679993
AMR 694AF 0.190199990.80980003
SAS 978AF 0.114500000.88549995
ss133456340ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 4IG0.500000000.50000000 0.750000000.25000000
ss167228056PGP 2IG1.00000000 1.00000000
ss17198369HapMap-CEUEuropean 120IG0.150000010.349999990.500000000.150222000.324999990.67500001
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss224028293pilot_1_YRI_low_coverage_panel 118AF 0.161016960.83898306
ss234662381pilot_1_CEU_low_coverage_panel 120AF 0.291666660.70833331

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.247+/-0.2500000

  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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