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Reference SNP (refSNP) Cluster Report: rs4874147                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
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:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.2521/29827 (ExAC)
T=0.2240/1122 (1000 Genomes)
T=0.2839/3692 (GO-ESP)
T=0.2683/33684 (TOPMED)
HGVS Names
  • CM000670.2:g.143538013T>C
  • NC_000008.10:g.144620183T>C
  • NC_000008.11:g.143538013T>C
  • NM_015117.2:c.1354A>G
  • NP_055932.2:p.Ser452Gly
  • NT_187571.1:g.28053T>C
  • XP_005250903.1:p.Ser580Gly
  • XP_005250904.1:p.Ser580Gly
  • XP_005250905.1:p.Ser580Gly
  • XP_006716599.2:p.Ser514Gly
  • XP_011515245.1:p.Ser466Gly
  • XP_011515246.1:p.Ser466Gly
  • XP_016868737.1:p.Ser580Gly
  • XP_016868738.1:p.Ser580Gly
  • XR_928313.2:n.1498A>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 ss280056129 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4874147 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
ss6734706WI_SSAHASNP|NT_023684.13_255805byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/12/0305/16/04111Genomicunknown
ss10423858BCM_SSAHASNP|chr8.NT_023684.15_553247fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt06/29/0310/10/03116Genomicunknown
ss11911837WI_SSAHASNP|chr8.NT_023684.15_553247fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt07/04/0310/10/03116Genomicunknown
ss19745756CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_023684.16_553026fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/20/0403/04/04120Genomicunknown
ss20336038CSHL-HAPMAP|CSHL-HuFF-200402.chr8.NT_023684.16_553026fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/21/0403/04/04120Genomicunknown
ss24398124PERLEGEN|afd4645820byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt08/10/0409/13/04123Genomicunknown
ss28511468MGC_GENOME_DIFF|BC038670x37552441-T553026Cfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt08/25/0408/25/04126cDNAunknown
ss44853661ABI|hCV9273319byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt07/19/0511/03/06126Genomicunknown
ss65728499ILLUMINA|Human1-rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt10/10/0610/10/06127Genomicunknown
ss66812971ILLUMINA|HumanHap300v1.1_rs4874147fwd/TC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt11/09/0611/09/06127Genomicunknown
ss67391290ILLUMINA|HumanHap550v1.1_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt11/14/0611/14/06127Genomicunknown
ss67764858ILLUMINA|HumanHap650Yv1.0_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt11/14/0611/14/06127Genomicunknown
ss69066344PERLEGEN|PGP04645820byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt01/30/0703/31/08127Genomicunknown
ss70832321ILLUMINA|HumanHap550v3.0__rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt04/20/0703/31/08130Genomicunknown
ss71415123ILLUMINA|HumanHap650Yv3.0_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt04/23/0704/23/07127Genomicunknown
ss75824188ILLUMINA|ILMN_Human_1M_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt08/28/0708/29/07129Genomicunknown
ss79200126ILLUMINA|HumanHap300v2.0_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt04/18/0711/18/07130Genomicunknown
ss84241512HGSV|Cor18517_SNV_20070510.chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt12/06/0712/06/07130Genomicunknown
ss84383426KRIBB_YJKIM|KHS698256fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt12/04/0712/07/07130Genomicunknown
ss86272787CORNELL|hCV9273319byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt01/21/0809/05/14129Genomicunknown
ss93989160BCMHGSC_JDW|JWB-2541444fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/26/0803/05/08129Genomicunknown
ss105653927BGI|BGI_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt09/10/0806/18/09130Genomicunknown
ss1139661511000GENOMES|NA19240_2008_12_16_1906556_chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt12/18/0812/18/08130Genomicunknown
ss116256433ILLUMINA-UK|NA18507_000201676_NCBI36.1_chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt01/16/0901/17/09130Genomic99 %
ss122416786ILLUMINA|HumanCNV370v1_C_rs4874147fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt04/14/0904/15/09131Genomicunknown
ss143868028ENSEMBL|ENSSNP6857531fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt06/05/0906/06/09131Genomicunknown
ss154325067ILLUMINA|Human610_Quadv1_B_rs4874147-128_B_F_1501789230fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt06/18/0906/20/09131Genomicunknown
ss157041992GMI|GMI_SNP_29222367fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt06/24/0906/25/09131Genomicunknown
ss159501630ILLUMINA|Human660W-Quad_v1_A_rs4874147-128_B_F_1501789230fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt07/06/0907/07/09131Genomicunknown
ss159717634SEATTLESEQ|ZC3H3-144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt07/10/0907/10/09131Genomicunknown
ss160722482ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4874147-128_B_F_1501789230fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt08/04/0910/04/09131Genomicunknown
ss161621642ENSEMBL|ENSSNP2772566fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt09/24/0909/25/09131Genomicunknown
ss162916994COMPLETE_GENOMICS|NA07022_36_chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt09/28/0909/29/09132Genomicunknown
ss165889615COMPLETE_GENOMICS|NA19240_36_chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt09/29/0909/30/09132Genomicunknown
ss167287528COMPLETE_GENOMICS|NA20431_36_chr8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt09/30/0909/30/09132Genomicunknown
ss171957854ILLUMINA|HumanCNV370-Quadv3_C_rs4874147-128_B_F_1501789230fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt10/01/0910/04/09132Genomicunknown
ss173854431ILLUMINA|Human1M-Duov3_B_rs4874147-128_B_F_1501789230fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt10/01/0910/04/09132Genomicunknown
ss199942648BUSHMAN|BUSHMAN-chr8-144691325fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/16/1003/07/10132Genomicunknown
ss206512727BCM-HGSC-SUB|BCM_CMT_1011-1748025fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt03/15/1003/18/10132Genomicunknown
ss2240563931000GENOMES|pilot_1_YRI_5866076_chr8_144691326fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt04/22/1004/22/10132Genomicunknown
ss2346810751000GENOMES|pilot_1_CEU_4285704_chr8_144691326fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt05/01/1005/01/10132Genomicunknown
ss2414840661000GENOMES|pilot_1_CHB+JPT_3369143_chr8_144691326fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt05/01/1005/01/10132Genomicunknown
ss254742714BL|SNP156860_8_144691326fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt08/19/1008/19/10134Genomicunknown
ss280056129GMI|GMI_AK_SNP_4376400fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt12/16/1012/16/10137Genomicunknown
ss285948985GMI|GMI_NA10851_SNP_1961758fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt12/17/1012/17/10138Genomicunknown
ss294209972PJP|SNP_3716330_chr8_144691326fwd/C/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt01/21/1101/21/11134Genomicunknown
ss342266258NHLBI-ESP|ESP2500-chr8-144620183byFreqfwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt03/25/1109/05/14134Genomicunknown
ss481082548ILLUMINA|HumanOmni2.5-4v1_B_rs4874147-128_B_F_1771841677fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg01/30/1210/29/16137Genomicunknown
ss481104507ILLUMINA|HumanOmniExpress-12v1_C_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg01/30/1210/27/16137Genomicunknown
ss482097275ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg01/30/1208/28/15146Genomicunknown
ss485336402ILLUMINA|HumanOmni2.5-4v1_D_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg01/30/1210/28/16137Genomicunknown
ss4909721481000GENOMES|20110521_exome_479946_chr8_144620183fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt02/10/1202/21/12137Genomicunknown
ss491418222EXOME_CHIP|nonsyn_134448_chr_8_144620183fwd/BC/Tcagccggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcggctctt03/05/1203/05/12137Genomicunknown
ss491930533CLINSEQ_SNP|SNV-chr8-144691326byFreqfwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/06/1209/05/14137Genomicunknown
ss533045724ILLUMINA|HumanOmni5-4v1_B_kgp10950391-0_T_R_1907970571fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg06/22/1208/29/15146Genomicunknown
ss561158288TISHKOFF|snp_chr8_144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/22/1211/23/12138Genomicunknown
ss655589496SSMP|8_144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg12/14/1202/12/15138Genomicunknown
ss778923017ILLUMINA|HumanOmni25Exome-8v1_A_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/30/1307/10/15142Genomicunknown
ss780873686ILLUMINA|HumanOmni25Exome-8v1_A_exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/30/1307/10/15146Genomicunknown
ss783113972ILLUMINA|HumanOmni2.5-4v1_H_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/30/1307/29/15142Genomicunknown
ss783558909ILLUMINA|HumanOmniExpressExome-8v1_A_exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/31/1306/19/15146Genomicunknown
ss784070896ILLUMINA|HumanOmniExpressExome-8v1_A_rs4874147-128_B_F_1908447395fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/31/1306/19/15142Genomicunknown
ss825530644ILLUMINA|HumanCNV370v1_C_rs4874147-126_B_F_IFB1137443430:0fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg06/24/1311/21/14144Genomicunknown
ss832372668ILLUMINA|HumanOmniExpress-12v1_H_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg09/17/1306/19/15144Genomicunknown
ss833012988ILLUMINA|Human660W-Quad_v1_C_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg09/18/1307/02/15142Genomicunknown
ss833603817ILLUMINA|Human660W-Quad_v1_H_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg09/18/1307/02/15142Genomicunknown
ss834384469ILLUMINA|HumanOmni2.5-8v1_A_rs4874147-128_B_F_1844683310fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg09/18/1307/29/15142Genomicunknown
ss974469571JMKIDD_LAB|KhoeSan_Exomes_chr8_144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/06/1403/06/14142Genomicunknown
ss986189732EVA-GONL|EVA-GONL_rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg04/23/1404/25/14142Genomicunknown
ss1067500841JMKIDD_LAB|HGDP_exomes_chr8_144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg07/09/1407/09/14142Genomicunknown
ss1076017887JMKIDD_LAB|HGDP_WGS_chr8_144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg07/10/1407/11/14142Genomicunknown
ss13324204561000GENOMES|PHASE3_V1_44872295fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg08/16/1408/16/14142Genomicunknown
ss1431711974DDI|DDI_rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/04/1411/05/14144Genomicunknown
ss1582938931EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg02/19/1502/20/15144Genomicunknown
ss1584060532EVA_FINRISK|EVA_FINRISK_rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg02/27/1502/27/15144Genomicunknown
ss1595811978EVA_DECODE|EVA_DECODE_8_144691326_1190705_rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/02/1503/03/15144Genomicunknown
ss1622006651EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_144620183_24845369fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/04/1503/04/15144Genomicunknown
ss1665000684EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_144620183_24845369fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/04/1503/04/15144Genomicunknown
ss1689348369EVA_EXAC|EVA_EXAC_4457336fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/04/1503/04/15144Genomicunknown
ss1711212683EVA_MGP|EVA_XIMO_328443fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/09/1503/09/15144Genomicunknown
ss1713081172EVA_SVP|EVA_SVP_775539fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg03/12/1503/12/15144Genomicunknown
ss1752718662ILLUMINA|OmniExpressExome-8v1-1_B_exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/27/1506/09/15146Genomicunknown
ss1752718663ILLUMINA|OmniExpressExome-8v1-1_B_rs4874147-128_B_F_1908447395fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/27/1506/09/15146Genomicunknown
ss1805823914HAMMER_LAB|Hsieh_4839601fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg07/15/1507/16/15146Genomicunknown
ss1917832819ILLUMINA|HumanExome-12v1-1_B_exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg10/16/1510/16/15147Genomicunknown
ss1929465317WEILL_CORNELL_DGM|SNV:chr8:144620183fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg10/16/1510/17/15147Genomicunknown
ss1946249714ILLUMINA|HumanCoreExome-12v1-0_C_exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg10/29/1510/29/15147Genomicunknown
ss1959154054ILLUMINA|exm726568-0_T_R_1922987192fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/13/1511/13/15147Genomicunknown
ss1971126451GENOMED|rs4874147fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg02/16/1602/16/16147Genomicunknown
ss2025439619JJLAB|SNP5942174fwd/BC/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg08/29/1608/30/16149Genomicunknown
ss2153670369USC_VALOUEV|NC_000008.10:g.144620183T>Cfwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/17/1611/17/16150Genomicunknown
ss2308420644HUMAN_LONGEVITY|HLI-8-143538013-T-Cfwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/18/1611/18/16150Genomicunknown
ss2478395511TOPMED|8_144620183_T/Cfwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg11/20/1611/20/16150Genomicunknown
ss2627196013SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3781471fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg01/06/1701/06/17151Genomicunknown
ss2634821140ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4874147-128_B_F_19084473fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg02/02/1702/02/17151Genomicunknown
ss2709462443GRF|rs4874147fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg02/13/1702/13/17151Genomicunknown
ss2737395442GNOMAD|exomes_rs4874147fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/17/1705/17/17151Genomicunknown
ss2748120027GNOMAD|coding_rs4874147fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/17/1705/17/17151Genomicunknown
ss2874092285GNOMAD|rs4874147fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/19/1705/19/17151Genomicunknown
ss2985451837AFFY|Axiom_PsorMich_Affx-31774852fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/24/1705/24/17151Genomicunknown
ss2986096285AFFY|Axiom_Smokesc1_Affx-31774852fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/24/1705/24/17151Genomicunknown
ss3004199529SWEGEN|NC_000008.10:g.144620183T>Cfwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg05/30/1705/30/17151Genomicunknown
ss3022895585ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm726568-0_T_R_1922987192fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg06/28/1706/28/17151Genomicunknown
ss3026508280BIOINF_KMB_FNS_UNIBA|8.143538013T>Cfwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg07/05/1707/05/17151Genomicunknown
ss3348468342CSHL|rs4874147fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg10/02/1710/02/17151Genomicunknown
ss3578933457TOPMED|TOPMed_freeze_5?chr8:143,538,013fwd/C/Tggccgggatgcccaccttgtgctgcgcgtctccggatgatcttggtgcgg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4874147|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCAGGCACCC CTGGCAGGGC CCAGAGCTCT GGTCCACCTC CCAGCACAGA CCCGTGGCCG
 GCAGGTCCAG GCCAGGGGCA GACACACTGC TCTCTGTCTC ACCATCCCCC TGGGGACACA
 TGGACCCTGG ACTGGTCCCT GGGAGCTACT CCCCCTGCGC CTGGCCTGGC ACAAAGCCTT
 CCCTCTGTGA ACCCTGTGCA ACTGGAACGG AAGCTGCCCC CAGCGAGCTG CTTGTCTCTC
 ACCGGCAGGA GAAAGGATGG GCTTGCCAGC AGTGTGAGGG ACGGGAAACC TGTCCCCTAA
 GTTTATGCCG GCCAGGGCCC CGGCCCCAGG CAAGCCCAAA CCACCACAGC AGCACTTCCT
 GCCTCATTTC TTGCTGGAAA TGTGAACGCA ACTGCAGGCA AAGCTCCGAG CTCAGCAGAT
 CCATTAGGGG TGCCAAACAA ACCCTCCTCA CAGCCCCTCA CACTCTACCG CAGCCGGCCG
 GGATGCCCAC CTTGTGCTGC
 Y
 GCGTCTCCGG ATGATCTTGG TGCGGCTCTT CACTTTGTAA GCCGAGAGCG GGGTCTCCCC
 AGAGAGGGGC TTCAAGCCAC TGTGTCCTAC TGCTGGTCTG TCCCCCGACG GGGACCTAGA
 CAGGACTGGG GAGAGCTGGG AGGCATGGTC CTTGCTGCTG GCCTCCGACT GCCAACGGAA
 GGAGGAAGAG GAGGAGGCAG AGGGGCTGGA GGCCTTCCAC TTGTACTTGC TGGGGGCAGA
 CCCTGGCTTG GAGGACGTGG CTGGCTTCCT GGGCTTGGGC TCTGGGTCAG CTATGAGCTG
 CGGCTTCTCC ACCTTGTTTG CCATGCCAGC AGAGGCCTTG CACACATTCT CTGCAGCCAC
 TCTGGGACTG AGGGCCCTCC GAGCAACCCG GGGACTCTTC GAGGAGGCAG CCACCCATTT
 GTAGTTGTTT TTCCGGAACT TGTTAGTTCG ACAGGTCACA ACCAGCGAGG CCTCCCGGGC
 CTGCCTGGGT CCTGAGGCCG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023684 BC038670
dbSNP Blast Analysis
UniGene Cluster ID
521915

  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
C/T
T
T/T
HWPC
T
ss116256433YRI 2IG 1.00000000 1.00000000
ss1332420456EAS 1008AF 0.925599990.07440000
EUR 1006AF 0.736599980.26340002
AFR 1322AF 0.689899980.31010002
AMR 694AF 0.759400010.24059999
SAS 978AF 0.790400030.20960000
ss143868028ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss161621642ENSEMBL_celera 4IG 0.50000000 0.50000000 0.250000000.75000000
ss162916994CEUEuropean 2IG 1.00000000 1.00000000
ss165889615YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss167287528PGP 2IG 1.00000000 0.500000000.50000000
ss1689348369ExAc_Aggregated_Populations121292AF 0.743371370.25662863
ss199942648BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss224056393pilot_1_YRI_low_coverage_panel 118AF 0.635593240.36440679
ss234681075pilot_1_CEU_low_coverage_panel 120AF 0.725000020.27500001
ss241484066pilot_1_CHB+JPT_low_coverage_panel 120AF 0.933333340.06666667
ss24398124AFD_EUR_PANELEuropean 46IG 0.478260870.43478259 0.086956521.000000000.695652190.30434781
AFD_AFR_PANELAfrican American 46IG 0.608695630.30434781 0.086956520.438578000.760869560.23913044
AFD_CHN_PANELAsian 46IG 0.869565190.13043478 1.000000000.934782620.06521739
ss342266258ESP_Cohort_Populations 4504GF 0.525310810.39564830 0.079040860.583882000.723134990.27686501
ss44853661HapMap-CEUEuropean 116IG 0.551724140.34482759 0.103448280.317310000.724137900.27586207
HapMap-HCBAsian 86IG 0.883720930.11627907 1.000000000.941860440.05813954
HapMap-JPTAsian 88IG 0.863636370.11363637 0.022727270.150222000.920454560.07954545
HapMap-YRISub-Saharan African 220IG 0.409090910.48181817 0.109090910.583882000.649999980.34999999
HAPMAP-ASW 98IG 0.367346940.53061223 0.102040820.342782000.632653060.36734694
HAPMAP-CHBAsian 82IG 0.926829280.07317073 1.000000000.963414610.03658536
HAPMAP-CHD 168IG 0.821428600.16666667 0.011904761.000000000.904761910.09523810
HAPMAP-LWK 180IG 0.522222220.38888890 0.088888890.751830000.716666640.28333333
HAPMAP-MKK 278IG 0.410071940.46043167 0.129496401.000000000.640287760.35971224
HAPMAP-TSI 170IG 0.588235320.36470589 0.047058821.000000000.770588220.22941177
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss491930533CSAgilent 1310GF 0.558441580.37862137 0.062937061.000000000.747752250.25224775
ss6734706CEPH 184AF 0.630000000.37000000
CHMJAsian 74IG0.95945948 0.04054054 0.959459480.04054054
ss86272787AGI_ASP_populationmultiple 16IG 0.500000000.50000000 0.750000000.25000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.377+/-0.2150000ALFRED: 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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