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Reference SNP (refSNP) Cluster Report: rs8192678                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:117/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3081/37362 (ExAC)
T=0.2658/1331 (1000 Genomes)
T=0.2647/3443 (GO-ESP)
T=0.2642/33175 (TOPMED)
HGVS Names
  • CM000666.2:g.23814039C>T
  • NC_000004.11:g.23815662C>T
  • NC_000004.12:g.23814039C>T
  • NG_028250.1:g.81039G>A
  • NG_028250.2:g.663937G>A
  • NM_001330751.1:c.1459G>A
  • NM_001330752.1:c.1408G>A
  • NM_001330753.1:c.1063G>A
  • NM_001354825.1:c.1459G>A
  • NM_001354826.1:c.1063G>A
  • NM_001354827.1:c.1459G>A
  • NM_013261.4:c.1444G>A
  • NP_001317680.1:p.Gly487Ser
  • NP_001317681.1:p.Gly470Ser
  • NP_001317682.1:p.Gly355Ser
  • NP_001341754.1:p.Gly487Ser
  • NP_001341755.1:p.Gly355Ser
  • NP_001341756.1:p.Gly487Ser
  • NP_037393.1:p.Gly482Ser
  • NR_148981.1:n.1971G>A
  • NR_148982.1:n.2044G>A
  • NR_148983.1:n.2197G>A
  • NR_148984.1:n.1595G>A
  • NR_148985.1:n.2109G>A
  • NR_148986.1:n.2114G>A
  • NR_148987.1:n.2196G>A
  • XP_005248187.1:p.Gly487Ser
  • XP_005248188.1:p.Gly486Ser
  • XP_005248189.1:p.Gly479Ser
  • XP_005248190.1:p.Gly470Ser
  • XP_005248191.1:p.Gly487Ser
  • XP_011512067.1:p.Gly470Ser
  • XP_011512068.1:p.Gly447Ser
  • XP_011512069.1:p.Gly447Ser
  • XP_011512070.1:p.Gly447Ser
  • XP_011512071.1:p.Gly487Ser
  • XP_011512072.1:p.Gly355Ser
  • XP_011512073.1:p.Gly355Ser
  • XP_016863153.1:p.Gly487Ser
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 ss277614761 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8192678 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
ss12587287IBARROSO|PPARGC1_G482SbyFreqfwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg08/06/0304/07/04117Genomicunknown
ss19565421CSHL-HAPMAP|CSHL-HuDD-200402.chr4.NT_006316.15_14491020byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc02/20/0410/26/06120Genomicunknown
ss23944454PERLEGEN|afd3444065byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc08/10/0409/13/04123Genomicunknown
ss28501660IMCJ-GDT|IMCJ-PPARGC1_7-AGfwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg08/20/0408/20/04126Genomicunknown
ss44583383ABI|hCV1643192byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc07/19/0511/03/06126Genomicunknown
ss48415222APPLERA_GI|hCV1643192byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc09/28/0511/03/06126Genomicunknown
ss65729819ILLUMINA|Human1-rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg10/10/0610/10/06127Genomicunknown
ss66661319ILLUMINA|HumanHap300v1.1_rs8192678fwd/BA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg11/09/0611/09/06127Genomicunknown
ss67876436ILLUMINA|HumanHap550v1.1_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg11/14/0611/14/06127Genomicunknown
ss68019400ILLUMINA|HumanHap650Yv1.0_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg11/14/0611/15/06127Genomicunknown
ss68074353SHGC|1501byFreqfwd/TA/Ggctgtttttgangacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg11/15/0612/16/06127Genomicunknown
ss68893601PERLEGEN|PGP03444065byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc01/30/0703/31/08127Genomicunknown
ss69355862BROAD_DGAP|Broad11897346rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcntcaaaaacagc02/16/0702/16/07127Genomicunknown
ss70972853ILLUMINA|HumanHap550v3.0__rs8192678rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc04/20/0703/31/08130Genomicunknown
ss71584033ILLUMINA|HumanHap650Yv3.0_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg04/23/0704/23/07127Genomicunknown
ss74808470AFFY|SNP_M-180058fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg08/09/0708/09/07128Genomicunknown
ss75538766ILLUMINA|ILMN_Human_1M_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg08/28/0708/29/07129Genomicunknown
ss76785057AFFY|AFFY_6_1M_SNP_A-8646452rev/BC/Tctgtccctcagttcacggtcttgtctgcttcg08/28/0708/30/07130Genomicunknown
ss79282818ILLUMINA|HumanHap300v2.0_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg04/18/0711/18/07130Genomicunknown
ss79313469PGA-UW-FHCRC|PPARGC1A-078043byFreqfwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg11/20/0709/05/14130Genomicunknown
ss84421514HGSV|Cor18555_SNV_20070510.chr4_23491931rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc11/27/0712/07/07130Genomicunknown
ss84792630KRIBB_YJKIM|KHS811441fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg12/04/0712/08/07130Genomicunknown
ss86345799CANCER-GENOME|13007rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc01/25/0801/25/08129Genomicunknown
ss95216484SHGC|2565byFreqfwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg03/21/0809/05/14130Genomicunknown
ss104049318BGI|BGI_rs8192678rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc06/07/0806/17/09131Genomicunknown
ss1129847491000GENOMES|CEU.trio.12.15.2008_934784_chr4_23424760rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc12/18/0812/18/08130Genomicunknown
ss120036817ILLUMINA|GS0007123-OPA_Ober-rs8192678rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc02/24/0902/24/09131Genomicunknown
ss122910821ILLUMINA|HumanCNV370v1_C_rs8192678fwd/TA/Ggctgtttttgacgacgaagcagacaagaccgtgaactgagggacagtgatttcagtaatg04/14/0904/15/09131Genomicunknown
ss154471707ILLUMINA|Human610_Quadv1_B_rs8192678-128_B_R_1501876725rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc06/18/0906/20/09131Genomicunknown
ss156977879GMI|GMI_SNP_42395735rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc06/24/0906/25/09131Genomicunknown
ss159646244ILLUMINA|Human660W-Quad_v1_A_rs8192678-128_B_R_1501876725rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc07/06/0907/07/09131Genomicunknown
ss159707380SEATTLESEQ|PPARGC1A-23424760rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc07/10/0907/10/09131Genomicunknown
ss160954826ILLUMINA|HumanOmni1-Quad_v1-0_B_rs8192678-128_B_R_1501876725rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc08/04/0910/05/09131Genomicunknown
ss161537462ENSEMBL|ENSSNP2382091rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc09/24/0909/25/09131Genomicunknown
ss161950202COMPLETE_GENOMICS|NA07022_36_chr4_23424760rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc09/28/0909/28/09132Genomicunknown
ss172404520ILLUMINA|HumanCNV370-Quadv3_C_rs8192678-128_B_R_1501876725rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc10/01/0910/04/09132Genomicunknown
ss174737599ILLUMINA|Human1M-Duov3_B_rs8192678-128_B_R_1501876725rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc10/01/0910/05/09132Genomicunknown
ss206477927BCM-HGSC-SUB|BCM_CMT_1011-909293rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc03/15/1003/17/10132Genomicunknown
ss2323002351000GENOMES|pilot_1_CEU_1904864_chr4_23424760rev/C/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc05/01/1005/01/10132Genomicunknown
ss2396131021000GENOMES|pilot_1_CHB+JPT_1498179_chr4_23424760rev/C/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc05/01/1005/01/10132Genomicunknown
ss244313069ILLUMINA|CVDSNP55v1_A_rs8192678rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc06/10/1006/10/10132Genomicunknown
ss277614761GMI|GMI_AK_SNP_1934981rev/C/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc12/16/1012/16/10137Genomicunknown
ss284864610GMI|GMI_NA10851_SNP_877383rev/C/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc12/17/1012/17/10138Genomicunknown
ss293305682PJP|SNP_2812040_chr4_23424760rev/C/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc01/21/1101/21/11134Genomicunknown
ss342161133NHLBI-ESP|ESP2500-chr4-23815662byFreqrev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc03/25/1109/05/14134Genomicunknown
ss481798895ILLUMINA|HumanOmni2.5-4v1_B_rs8192678-128_B_R_1673297983rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa01/30/1210/28/16137Genomicunknown
ss481831333ILLUMINA|HumanOmniExpress-12v1_C_rs8192678-131_B_R_1857517459rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa01/30/1210/27/16137Genomicunknown
ss482793157ILLUMINA|HumanOmni1-Quad_v1-0_C_rs8192678-131_B_R_1865160141rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa01/30/1208/28/15146Genomicunknown
ss485694100ILLUMINA|HumanOmni2.5-4v1_D_rs8192678-131_B_R_1857517459rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa01/30/1210/28/16137Genomicunknown
ss4908852531000GENOMES|20110521_exome_393051_chr4_23815662rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc02/10/1202/21/12137Genomicunknown
ss491354434EXOME_CHIP|nonsyn_70661_chr_4_23815662rev/BC/Tcattactgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaaacagc03/05/1203/05/12137Genomicunknown
ss491852527CLINSEQ_SNP|SNV-chr4-23424760byFreqrev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/06/1209/05/14137Genomicunknown
ss537561437ILLUMINA|HumanOmni5-4v1_B_rs8192678-131_B_R_1885508944rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/22/1208/28/15146Genomicunknown
ss557376125TISHKOFF|snp_chr4_23815662rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa11/22/1211/23/12138Genomicunknown
ss651145428SSMP|4_23815662rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa12/14/1202/10/15138Genomicunknown
ss778628242ILLUMINA|HumanOmni25Exome-8v1_A_rs8192678-131_B_R_1867764155rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/30/1307/09/15146Genomicunknown
ss783292629ILLUMINA|HumanOmni2.5-4v1_H_rs8192678-131_B_R_1857517459rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/30/1307/28/15142Genomicunknown
ss784245181ILLUMINA|HumanOmniExpressExome-8v1_A_rs8192678-131_B_R_1885508944rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/31/1306/19/15146Genomicunknown
ss825613336ILLUMINA|HumanCNV370v1_C_rs8192678-126_B_R_IFB1135605016:0rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/24/1311/21/14144Genomicunknown
ss832553897ILLUMINA|HumanOmniExpress-12v1_H_rs8192678-131_B_R_1857517459rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/17/1306/18/15144Genomicunknown
ss833157074ILLUMINA|Human660W-Quad_v1_C_rs8192678-131_B_R_1864603032rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/18/1307/02/15142Genomicunknown
ss833747902ILLUMINA|Human660W-Quad_v1_H_rs8192678-131_B_R_1864603032rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/18/1307/02/15142Genomicunknown
ss834085815ILLUMINA|HumanOmni2.5-8v1_A_rs8192678-131_B_R_1867764155rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/18/1307/28/15146Genomicunknown
ss979873896EVA-GONL|EVA-GONL_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa04/23/1404/24/14142Genomicunknown
ss1067460304JMKIDD_LAB|HGDP_exomes_chr4_23815662rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa07/09/1407/09/14142Genomicunknown
ss1071355751JMKIDD_LAB|HGDP_WGS_chr4_23815662rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa07/10/1407/11/14142Genomicunknown
ss13088324861000GENOMES|PHASE3_V1_20298664rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa08/16/1408/16/14142Genomicunknown
ss1397369838HAMMER_LAB|HAMMER_LAB_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/30/1409/30/14146Genomicunknown
ss1429806796DDI|DDI_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa11/04/1411/05/14144Genomicunknown
ss1580457893EVA_GENOME_DK|EVA_GENOME_DK_snv_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa02/19/1502/20/15144Genomicunknown
ss1584033711EVA_FINRISK|EVA_FINRISK_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa02/27/1502/27/15144Genomicunknown
ss1589365112EVA_DECODE|EVA_DECODE_4_23424760_209325_rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/02/1503/03/15144Genomicunknown
ss1609623897EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_23815662_11251215rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/04/1503/04/15144Genomicunknown
ss1652617930EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_23815662_11251215rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/04/1503/04/15144Genomicunknown
ss1687450653EVA_EXAC|EVA_EXAC_2407039rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/04/1503/04/15144Genomicunknown
ss1711055409EVA_MGP|EVA_XIMO_171169rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/09/1503/09/15144Genomicunknown
ss1712658512EVA_SVP|EVA_SVP_352879rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/12/1503/12/15144Genomicunknown
ss1752516896ILLUMINA|OmniExpressExome-8v1-1_B_rs8192678-131_B_R_1885508944rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/27/1506/09/15146Genomicunknown
ss1923109049WEILL_CORNELL_DGM|SNV:chr4:23815662rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa10/16/1510/17/15147Genomicunknown
ss1969683884GENOMED|rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa02/16/1602/16/16147Genomicunknown
ss2022131713JJLAB|SNP2634268rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa08/29/1608/30/16149Genomicunknown
ss2095142771ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs8192678-138_B_R_2258076037rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa09/27/1609/27/16150Genomicunknown
ss2136717882CSHL|rs8192678rev/BC/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa12/02/1612/02/16151Genomicunknown
ss2150240941USC_VALOUEV|NC_000004.11:g.23815662C>Trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa11/17/1611/17/16150Genomicunknown
ss2261221493HUMAN_LONGEVITY|HLI-4-23814039-C-Trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa11/18/1611/18/16150Genomicunknown
ss2428734404TOPMED|4_23815662_C/Trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa11/20/1611/20/16150Genomicunknown
ss2625566575SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1662316rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa01/06/1701/06/17151Genomicunknown
ss2634094097ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs8192678-131_B_R_18855089rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa02/02/1702/02/17151Genomicunknown
ss2705689514GRF|rs8192678rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa02/13/1702/13/17151Genomicunknown
ss2711000966ILLUMINA|Consortium-OncoArray_15047405_A_chr4_23815662_C_T-100_B_F_219681rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa03/22/1703/22/17151Genomicunknown
ss2734441831GNOMAD|exomes_rs8192678rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/17/1705/17/17151Genomicunknown
ss2747218099GNOMAD|coding_rs8192678rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/17/1705/17/17151Genomicunknown
ss2806747482GNOMAD|rs8192678rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/18/1705/18/17151Genomicunknown
ss2985288177AFFY|Axiom_PsorMich_Affx-24240566rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/24/1705/24/17151Genomicunknown
ss2994302028SWEGEN|NC_000004.11:g.23815662C>Trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa05/30/1705/30/17151Genomicunknown
ss3022355887ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs8192678-138_B_R_2258076037rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3022355888ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq2_rs8192678_rev-138_B_R_231497rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3022355889ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq3_rs8192678_rev-138_B_R_231497rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3022355890ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq4_rs8192678_fwd-138_T_F_231497rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3022355891ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq4_rs8192678_rev-138_B_R_231497rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3022355892ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq_rs8192678_rev-138_B_R_2314979rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa06/28/1706/28/17151Genomicunknown
ss3023060562EVA_SAMSUNG_MC|EXOMES.4:g23815662c>trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa07/03/1707/03/17151Genomicunknown
ss3024834801BIOINF_KMB_FNS_UNIBA|4.23814039C>Trev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa07/05/1707/05/17151Genomicunknown
ss3345593464CSHL|rs8192678rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa10/02/1710/02/17151Genomicunknown
ss3422888887TOPMED|TOPMed_freeze_5?chr4:23,814,039rev/C/Tctgaaatcactgtccctcagttcacggtcttgtctgcttcgtcgtcaaaa10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8192678|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGCTGAAGTC CTCTTGCAAG ACTGTGGTGC CACCACCATC AAAGAAGCCC AGGTACAGTG
 AGTCTTCTGG TACACAAGGC AATAACTCCA CCAAGAAAGG GCCGGAGCAA TCCGAGTTGT
 ATGCACAACT CAGCAAGTCC TCAGTCCTCA CTGGTGGACA CGAGGAAAGG AAGACCAAGC
 GGCCCAGTCT GCGGCTGTTT GGTGACCATG ACTATTGCCA GTCAATTAAT TCCAAAACAG
 AAATACTCAT TAATATATCA CAGGAGCTCC AAGACTCTAG ACAACTAGAA AATAAAGATG
 TCTCCTCTGA TTGGCAGGGG CAGATTTGTT CTTCCACAGA TTCAGACCAG TGCTACCTGA
 GAGAGACTTT GGAGGCAAGC AAGCAGGTCT CTCCTTGCAG CACAAGAAAA CAGCTCCAAG
 ACCAGGAAAT CCGAGCCGAG CTGAACAAGC ACTTCGGTCA TCCCAGTCAA GCTGTTTTTG
 ACGACGAAGC AGACAAGACC
 R
 GTGAACTGAG GGACAGTGAT TTCAGTAATG AACAATTCTC CAAACTACCT ATGTTTATAA
 ATTCAGGACT AGCCATGGAT GGCCTGTTTG ATGACAGCGA AGATGAAAGT GATAAACTGA
 GCTACCCTTG GGATGGCACG CAATCCTATT CATTGTTCAA TGTGTCTCCT TCTTGTTCTT
 CTTTTAACTC TCCATGTAGA GATTCTGTGT CACCACCCAA ATCCTTATTT TCTCAAAGAC
 CCCAAAGGAT GCGCTCTCGT TCAAGGTCCT TTTCTCGACA CAGGTCGTGT TCCCGATCAC
 CATATTCCAG GTCAAGATCA AGGTCTCCAG GCAGTAGATC CTCTTCAAGG TAAACCTTGG
 CAAAACCCTA ATAACACAAA AGGTGTTCCT AAGAAGTAAA AAATAAAATA AAATACAAAT
 AAAAATTTGA AATCTGCAGC CATTCTGGCC CCTGACCACT GCAATTCTGG CACTGCTGGA
 ACTAACGAGA ACATTGTTAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006316
dbSNP Blast Analysis
UniGene Cluster ID
527078

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs8192678 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA
A/A
A/G
G
G/G
HWPA
G
ss12587287ELY 921AF 0.360000040.63999999
ss1308832486EAS 1008AF 0.442500000.55750000
EUR 1006AF 0.360800030.63920003
AFR 1322AF 0.045400000.95459998
AMR 694AF 0.256500010.74349999
SAS 978AF 0.290400000.70959997
ss161537462ENSEMBL_celera 4IG 1.00000000 1.00000000
ss161950202CEUEuropean 2IG 1.00000000 1.00000000
ss1687450653ExAc_Aggregated_Populations121412AF 0.307934970.69206506
ss19565421CHMJAsian 74IG0.41891891 0.58108109 0.418918910.58108109
ss232300235pilot_1_CEU_low_coverage_panel 120AF 0.349999990.64999998
ss23944454AFD_EUR_PANELEuropean 48IG 0.083333340.50000000 0.416666660.583882000.333333340.66666669
AFD_AFR_PANELAfrican American 46IG 0.30434781 0.695652190.654721000.152173910.84782606
AFD_CHN_PANELAsian 48IG 0.125000000.50000000 0.375000000.751830000.375000000.62500000
ss239613102pilot_1_CHB+JPT_low_coverage_panel 120AF 0.483333320.51666665
ss342161133ESP_Cohort_Populations 4550GF 0.072527480.35340661 0.574065920.010028000.249230770.75076926
ss44583383INDIAN 850AF 0.120000000.44000000 0.440000000.751830000.340000000.66000003
HapMap-CEUEuropean 226IG 0.150442480.39823008 0.451327440.200325000.349557520.65044248
HapMap-HCBAsian 86IG 0.255813960.39534885 0.348837200.200325000.453488380.54651165
HapMap-JPTAsian 172IG 0.255813960.54651165 0.197674420.371093000.529069780.47093022
HapMap-YRISub-Saharan African 226IG 0.008849560.06194690 0.929203510.050043000.039823010.96017700
HAPMAP-ASW 98IG 0.12244898 0.877551021.000000000.061224490.93877554
HAPMAP-CHBAsian 82IG 0.121951220.46341464 0.414634141.000000000.353658530.64634144
HAPMAP-CHD 168IG 0.154761910.48809522 0.357142871.000000000.398809520.60119045
HAPMAP-GIH 176IG 0.102272730.38636363 0.511363630.527089000.295454530.70454544
HAPMAP-LWK 180IG 0.03333334 0.966666641.000000000.016666670.98333335
HAPMAP-MEX 100IG 0.080000000.25999999 0.660000030.150222000.209999990.79000002
HAPMAP-MKK 286IG 0.16083916 0.839160860.751830000.080419580.91958040
HAPMAP-TSI 176IG 0.181818190.50000000 0.318181811.000000000.431818190.56818181
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss48415222AGI_ASP populationmultiple 76IG 0.078947370.26315790 0.657894730.200325000.210526320.78947371
ss491852527CSAgilent 1319GF 0.112000010.43500000 0.453000010.751830000.329499990.67049998
ss68074353R24 48AF 0.230000000.76999998
ss68893601HapMap-CEUEuropean 120IG 0.200000000.33333334 0.466666670.050043000.366666670.63333333
HapMap-HCBAsian 90IG 0.244444440.40000001 0.355555560.250592000.444444450.55555558
HapMap-JPTAsian 90IG 0.177777780.55555558 0.266666680.438578000.455555560.54444444
HapMap-YRISub-Saharan African 120IG 0.03333334 0.966666641.000000000.016666670.98333335
ss79313469PGA_CEPH-PANELEuropean 46IG 0.217391300.39130434 0.391304340.371093000.413043470.58695650
PGA_YORUB-PANELSub-Saharan African 48IG 0.04166667 0.958333311.000000000.020833330.97916669
ss95216484S24 48AF 0.460000010.54000002

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.426+/-0.1770000ALFRED: 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
UNKNOWNYESYES

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