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Reference SNP (refSNP) Cluster Report: rs1455311                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:88/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1122/562 (1000 Genomes)
G=0.1412/17735 (TOPMED)
HGVS Names
  • CM000666.2:g.79043433A>G
  • NC_000004.11:g.79964587A>G
  • NC_000004.12:g.79043433A>G
  • NR_038342.1:n.183-42663A>G
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 ss277792747 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1455311 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
ss2272519TSC-CSHL|TSC0686393byFreqfwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg10/20/0010/25/0688Genomic95 %
ss65767932ILLUMINA|Human1-rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg10/10/0610/10/06127Genomicunknown
ss66770254ILLUMINA|HumanHap300v1.1_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg11/09/0611/09/06127Genomicunknown
ss67108554ILLUMINA|HumanHap550v1.1_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg11/14/0611/14/06127Genomicunknown
ss67445056ILLUMINA|HumanHap650Yv1.0_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg11/14/0611/14/06127Genomicunknown
ss70434018ILLUMINA|HumanHap300v2.0_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg04/18/0711/18/07127Genomicunknown
ss70620139ILLUMINA|HumanHap550v3.0__rs1455311rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg04/20/0703/30/08130Genomicunknown
ss71168730ILLUMINA|HumanHap650Yv3.0_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg04/23/0704/23/07127Genomicunknown
ss75795214ILLUMINA|ILMN_Human_1M_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg08/28/0708/29/07129Genomicunknown
ss83782350KRIBB_YJKIM|KHS542109fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg12/04/0712/05/07130Genomicunknown
ss104086307BGI|BGI_rs1455311rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg06/07/0806/18/09131Genomicunknown
ss1080736071000GENOMES|CEU.trio.12.15.2008_1017899_chr4_80183611rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg12/15/0812/15/08130Genomicunknown
ss121704354ILLUMINA|HumanCNV370v1_C_rs1455311fwd/BC/Tcgattgattccatttctgaattacagagggtattgatttttcattaaggttcctgtgctg04/14/0904/14/09131Genomicunknown
ss153448024ILLUMINA|Human610_Quadv1_B_rs1455311-127_T_R_1501666466rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg06/18/0906/19/09131Genomicunknown
ss159272020ILLUMINA|Human660W-Quad_v1_A_rs1455311-128_T_R_1501666466rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg07/06/0907/06/09131Genomicunknown
ss166794056COMPLETE_GENOMICS|NA20431_36_chr4_80183611rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg09/30/0909/30/09132Genomicunknown
ss170529094ILLUMINA|HumanCNV370-Quadv3_C_rs1455311-127_T_R_1501666466rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg10/01/0910/03/09132Genomicunknown
ss172515075ILLUMINA|Human1M-Duov3_B_rs1455311-127_T_R_1501666466rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg10/01/0910/02/09132Genomicunknown
ss198748228BUSHMAN|BUSHMAN-chr4-80183610rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg02/16/1003/06/10132Genomicunknown
ss2210222631000GENOMES|pilot_1_YRI_2831946_chr4_80183611rev/A/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg04/22/1004/22/10132Genomicunknown
ss2324610381000GENOMES|pilot_1_CEU_2065667_chr4_80183611rev/A/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg05/01/1005/01/10132Genomicunknown
ss2397401591000GENOMES|pilot_1_CHB+JPT_1625236_chr4_80183611rev/A/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg05/01/1005/01/10132Genomicunknown
ss253274488BL|SNP94725_4_80183611rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg08/18/1008/18/10134Genomicunknown
ss277792747GMI|GMI_AK_SNP_2112979rev/A/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg12/16/1012/16/10137Genomicunknown
ss284943365GMI|GMI_NA10851_SNP_956138rev/A/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg12/17/1012/17/10138Genomicunknown
ss483800230ILLUMINA|HumanOmni2.5-4v1_D_kgp6849160-0_T_F_1810326249rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc01/30/1210/28/16137Genomicunknown
ss484867607ILLUMINA|HumanOmni2.5-4v1_B_SNP4-80183611-0_T_F_1618295376rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc01/30/1210/28/16137Genomicunknown
ss491357637EXOME_CHIP|.GWAS._73864_chr_4_79964587rev/TA/Gcagcacaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatcaatcg03/05/1203/05/12137Genomicunknown
ss535998128ILLUMINA|HumanOmni5-4v1_B_kgp6849160-0_T_F_1810326249rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc06/22/1208/28/15146Genomicunknown
ss557628228TISHKOFF|snp_chr4_79964587rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/22/1211/23/12138Genomicunknown
ss651435645SSMP|4_79964587rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc12/14/1202/10/15138Genomicunknown
ss780413124ILLUMINA|HumanOmni25Exome-8v1_A_kgp6849160-0_T_F_1810326249rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/30/1307/09/15142Genomicunknown
ss780681964ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/30/1307/09/15146Genomicunknown
ss782343691ILLUMINA|HumanOmni2.5-4v1_H_kgp6849160-0_T_F_1810326249rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/30/1307/28/15142Genomicunknown
ss783355296ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/31/1306/19/15146Genomicunknown
ss825403292ILLUMINA|HumanCNV370v1_C_rs1455311-88_T_R_IFB1136752891:0rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc06/24/1311/21/14144Genomicunknown
ss835902209ILLUMINA|HumanOmni2.5-8v1_A_kgp6849160-0_T_F_1810326249rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc09/18/1307/28/15142Genomicunknown
ss980296851EVA-GONL|EVA-GONL_rs1455311rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc04/23/1404/24/14142Genomicunknown
ss1071676051JMKIDD_LAB|HGDP_WGS_chr4_79964587rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc07/10/1407/11/14142Genomicunknown
ss13104231951000GENOMES|PHASE3_V1_21956684rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc08/16/1408/16/14142Genomicunknown
ss1429939076DDI|DDI_rs1455311rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/04/1411/05/14144Genomicunknown
ss1580630325EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1455311rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/19/1502/20/15144Genomicunknown
ss1589796871EVA_DECODE|EVA_DECODE_4_80183611_641098_rs1455311rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc03/02/1503/03/15144Genomicunknown
ss1610438725EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_79964587_12145666rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc03/04/1503/04/15144Genomicunknown
ss1653432758EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_79964587_12145666rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc03/04/1503/04/15144Genomicunknown
ss1712683914EVA_SVP|EVA_SVP_378281rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc03/12/1503/12/15144Genomicunknown
ss1752533355ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/27/1506/09/15146Genomicunknown
ss1917782074ILLUMINA|HumanExome-12v1-1_B_exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc10/16/1510/16/15147Genomicunknown
ss1923540419WEILL_CORNELL_DGM|SNV:chr4:79964587rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc10/16/1510/17/15147Genomicunknown
ss1946120094ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc10/29/1510/29/15147Genomicunknown
ss1958696640ILLUMINA|exm-rs1455311-131_T_R_1990488699rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/13/1511/13/15147Genomicunknown
ss2022355786JJLAB|SNP2858341rev/TA/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc08/29/1608/30/16149Genomicunknown
ss2150484547USC_VALOUEV|NC_000004.11:g.79964587A>Grev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/17/1611/17/16150Genomicunknown
ss2264249944HUMAN_LONGEVITY|HLI-4-79043433-A-Grev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/18/1611/18/16150Genomicunknown
ss2432043392TOPMED|4_79964587_A/Grev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc11/20/1611/20/16150Genomicunknown
ss2634138735ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp6849160-0_T_F_181032624rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/02/1702/02/17151Genomicunknown
ss2634138736ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1455311-131_T_R_18854723rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/02/1702/02/17151Genomicunknown
ss2634138737ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1455311-131_T_R_2130rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/02/1702/02/17151Genomicunknown
ss2635133549ILLUMINA|Cancer_BeadChip_11459870_A_rs1455311-128_T_R_1767822678rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/02/1702/02/17151Genomicunknown
ss2705959383GRF|rs1455311rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc02/13/1702/13/17151Genomicunknown
ss2811248338GNOMAD|rs1455311rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/18/1705/18/17151Genomicunknown
ss2985296067AFFY|Axiom_PsorMich_Affx-24989940rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/24/1705/24/17151Genomicunknown
ss2994980778SWEGEN|NC_000004.11:g.79964587A>Grev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc05/30/1705/30/17151Genomicunknown
ss3022387488ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1455311-131_T_R_1990488699rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc06/28/1706/28/17151Genomicunknown
ss3024953114BIOINF_KMB_FNS_UNIBA|4.79043433A>Grev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc07/05/1707/05/17151Genomicunknown
ss3345798955CSHL|rs1455311rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc10/02/1710/02/17151Genomicunknown
ss3433548135TOPMED|TOPMed_freeze_5?chr4:79,043,433rev/A/Gcaggaaccttaatgaaaaatcaataccctctgtaattcagaaatggaatc10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1455311|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TAATTGCCTT TAGGTCAAGG GCACGTGGGC CCTGGCTTGT TTTGAGCACA AATTTAATAG
 TTAACAGATG CTAGAGGAAG TATGCAGAGA GATCTGTGGA AAAATTGATT CCCATTTGAT
 CCCAGATGGG TTTAAAGACA GCATCCACAG CTATCAACCT ATGTTTTAAA GCATCTGCAG
 CACTGATAGC AGTAACTGCC ACAAGAACCA TTAAAAAAAC AAAACAACTA ATGGTTGCAT
 ATAATTTTTA AGATAGGGAT TATGAGGAAG AACTGTGGGG GAAAATAAAC GTAAGACTCA
 TTACTCCTTA AGATGGCAAG GAAGAAAAGT CCTACCCATC GCAGGTATAA ATTGTTGTGG
 ACTGATATCA GGTGTCTTCT GTAGGCTTTT TGAAGAACAG CTCTTTACAA CTGAATTCTA
 TCTTGAGCTA AGCATTCTCT TAGCAAGGAA AAAGAAAAAG TCAGGTCAAA CGATTGATTC
 CATTTCTGAA TTACAGAGGG
 Y
 TATTGATTTT TCATTAAGGT TCCTGTGCTG CCCTCAAGAG CAGGGAAAGA GAAGGGAAAG
 TAATTCATTG ATCAGAGCGG AGGGCCATGT TCATTTATTG GCTTCCTGCC ACATCCCATT
 ATTACCGGTT CTAAATGTAT ATTGAAGCCA GTTTATTTTC ATCATAGCCT CCTGTCATCA
 GAAGTGTCTC CGAGTAACTA TTAGTTTAAT CATCCTTTTC TCACAATGGT AATGAGTGAT
 AATATCCAAC GTGATCCTGG ATTCATAGAT ATTATTCATT GGATTGCAGC GCTGCCCCTC
 ACAAAGCTCT AGTTAAGGGT CTGCTGATGC TTTCATAGTC TAAAAGACAT AATAGCTTGA
 GAATTTTTAA ATACATGTAT ATATTTGAAA TAGAAAAACT GTAGTGCTTT CACCATCGTT
 TTATTTATTT TTTAAAAAAA AATCCTGAAA GATTCACGTT TGTTAACCTG TCAATTACGA
 TAACTTTAGG CAGTGCAAGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000004
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1455311 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1310423195EAS 1008AF 0.126000000.87400001
EUR 1006AF 0.170000000.82999998
AFR 1322AF 0.071900000.92810005
AMR 694AF 0.106600000.89340001
SAS 978AF 0.097100000.90289998
ss166794056PGP 2IG 1.00000000 0.500000000.50000000
ss221022263pilot_1_YRI_low_coverage_panel 118AF 0.025423730.97457629
ss2272519HapMap-CEUEuropean 226IG0.026548670.380530980.592920360.200325000.216814160.78318584
HapMap-HCBAsian 86IG0.093023260.232558150.674418630.099721000.209302320.79069769
HapMap-JPTAsian 172IG 0.279069780.720930220.479500000.139534890.86046511
HapMap-YRISub-Saharan African 226IG 0.070796460.929203511.000000000.035398230.96460176
HAPMAP-ASW 98IG 0.244897960.755102040.654721000.122448980.87755102
HAPMAP-CHBAsian 82IG0.024390240.341463420.634146330.583882000.195121940.80487806
HAPMAP-CHD 170IG0.047058820.223529410.729411780.150222000.158823530.84117645
HAPMAP-GIH 176IG0.011363640.159090910.829545440.751830000.090909090.90909094
HAPMAP-LWK 180IG 0.133333340.866666671.000000000.066666670.93333334
HAPMAP-MEX 100IG0.020000000.180000010.800000010.583882000.110000000.88999999
HAPMAP-MKK 286IG 0.279720280.720279690.342782000.139860140.86013985
HAPMAP-TSI 176IG0.022727270.306818190.670454560.654721000.176136360.82386363
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss232461038pilot_1_CEU_low_coverage_panel 120AF 0.191666660.80833334
ss239740159pilot_1_CHB+JPT_low_coverage_panel 120AF 0.183333340.81666666

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.199+/-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
byClusterbyFreqbySubmitterWith1000GenomeData
Validated by: PERLEGEN
UNKNOWNUNKNOWNUNKNOWN

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