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Reference SNP (refSNP) Cluster Report: rs4986819                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1007/11919 (ExAC)
C=0.0988/495 (1000 Genomes)
C=0.1385/1801 (GO-ESP)
C=0.1254/15748 (TOPMED)
HGVS Names
  • CM000675.2:g.24459152G>C
  • NC_000013.10:g.25033290G>C
  • NC_000013.11:g.24459152G>C
  • NM_006437.3:c.2346-30C>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 ss286668405 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986819 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
ss5586213SNP500CANCER|PARP4-09byFreqfwd/BC/Gtaatttcagatagaaatttaagatygtagataagacaactttctcttcatttttgctagc09/26/0204/07/04113Genomicunknown
ss13303780SC_SNP|NT_009799.12_6013290rev/TC/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta10/22/0310/31/03119Genomicunknown
ss23434463PERLEGEN|afd2103004byFreqrev/TC/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta08/10/0409/13/04123Genomicunknown
ss1126177571000GENOMES|CEU.trio.12.15.2008_2856689_chr13_23931290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta12/17/0812/17/08130Genomicunknown
ss1144187721000GENOMES|NA19240_2008_12_16_2569677_chr13_23931290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta12/18/0812/18/08130Genomicunknown
ss168972316COMPLETE_GENOMICS|NA19240_36_chr13_23931290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta10/01/0910/01/09132Genomicunknown
ss198973424BUSHMAN|BUSHMAN-chr13-23931289byFreqrev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta02/16/1009/05/14132Genomicunknown
ss2260803781000GENOMES|pilot_1_YRI_7890061_chr13_23931290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta04/22/1004/22/10132Genomicunknown
ss2361766691000GENOMES|pilot_1_CEU_5781298_chr13_23931290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta05/01/1005/01/10132Genomicunknown
ss286668405GMI|GMI_NA10851_SNP_2681196rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta12/17/1012/17/10138Genomicunknown
ss4910569491000GENOMES|20110521_exome_564747_chr13_25033290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta02/10/1202/22/12137Genomicunknown
ss532971941ILLUMINA|HumanOmni5-4v1_B_kgp10715907-0_T_F_1800294341rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga06/22/1208/29/15146Genomicunknown
ss563550316TISHKOFF|snp_chr13_25033290rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga11/22/1211/23/12138Genomicunknown
ss659144298SSMP|13_25033290rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga12/14/1202/13/15138Genomicunknown
ss713142247NHLBI-ESP|ESP6500SI-chr13-25033290rev/C/Ggctagcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctgaaatta02/20/1302/20/13138Genomicunknown
ss990193029EVA-GONL|EVA-GONL_rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga04/23/1404/25/14142Genomicunknown
ss1078937867JMKIDD_LAB|HGDP_WGS_chr13_25033290rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga07/10/1407/12/14142Genomicunknown
ss13474956241000GENOMES|PHASE3_V1_60566750rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga08/16/1408/16/14142Genomicunknown
ss1576672817EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga02/19/1502/19/15144Genomicunknown
ss1629890269EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_13_25033290_33509715rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga03/04/1503/04/15144Genomicunknown
ss1642298486EVA_DECODE|EVA_DECODE_13_23931290_52118_rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga03/02/1503/04/15144Genomicunknown
ss1672884302EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_13_25033290_33509715rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga03/04/1503/04/15144Genomicunknown
ss1691227701EVA_EXAC|EVA_EXAC_6480685rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga03/04/1503/04/15144Genomicunknown
ss1711352393EVA_MGP|EVA_XIMO_468153rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga03/09/1503/09/15144Genomicunknown
ss1807525994HAMMER_LAB|Hsieh_6548401rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga07/15/1507/16/15146Genomicunknown
ss1933561395WEILL_CORNELL_DGM|SNV:chr13:25033290rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga10/16/1510/17/15147Genomicunknown
ss2027535096JJLAB|SNP8037651rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga08/29/1608/31/16149Genomicunknown
ss2155898951USC_VALOUEV|NC_000013.10:g.25033290G>Crev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga11/17/1611/17/16150Genomicunknown
ss2194862426HUMAN_LONGEVITY|HLI-13-24459152-G-Crev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga11/18/1611/18/16150Genomicunknown
ss2740317791GNOMAD|exomes_rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga05/17/1705/17/17151Genomicunknown
ss2749018801GNOMAD|coding_rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga05/17/1705/17/17151Genomicunknown
ss2917600799GNOMAD|rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga05/23/1705/23/17151Genomicunknown
ss3010721455SWEGEN|NC_000013.10:g.25033290G>Crev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga05/30/1705/30/17151Genomicunknown
ss3027582318BIOINF_KMB_FNS_UNIBA|13.24459152G>Crev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga07/05/1707/05/17151Genomicunknown
ss3350365097CSHL|rs4986819rev/C/Gcaaaaatgaagagaaagttgtcttatctacgatcttaaatttctatctga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986819|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 TTATCCCATT GCCCAGAGTT AATGGTTAAT ACTTCGGTAT ATCCCTCCAA ACTTCCTACT
 TTGTATGTAC AGCACATGTA TAAAATGTGT GTGTGTGTGT GTGTGCGTGT GTGTGTGTGT
 ATACACACAG ACATATGTAG AGTTTAAAAT CTCTGTCAAA ATGGTGAGTT GTATTTTAGA
 AGTTCCTGTC ATTCCATGAG CAAACTTTCT GTGTTTCACT GCTTGAAAGT GAAACCAGCT
 GTCTTGCTGA CAGTTGTGGC CTTGCCAAGA TTACATTCAC TTTAGTCTCA TTGTGAAACT
 TAATATATGC TTAGTTATAC AAATGTATTT TTCTTTTAAC AGGATACAGT AGAGAAGATT
 TGTATAAAAG AAATAGGAAC AAAGCAAAGG TTAGTACCTA AAATATAAAA CCTGTCAATT
 CAATGGATAT TGGTTTTCTG GTTTAAATTT CCATTTAGAA TTGTTTGAAA TAATTTCAGA
 TAGAAATTTA AGATCGTAGA
 S
 TAAGACAACT TTCTCTTCAT TTTTGCTAGC TTCTCTTTGA CTATGTCTAT TGAGATGCCG
 TATGTGATTG AATTCATTTT CAGTGATACA CATGAACTGA AACAAAAGGT TAGTGCATCT
 TTGATTTCTT AAGAGCTGTT ATTTTAACAC TACTTTTATC TTATCAAAGC AATGTATGCA
 CGTGGTTGAA AAGTGAAATA ATGCTGACAA AACTTCTAAC AAGAAGCACT ACTCCTGCCC
 CTGATTCTCC CCAGACCAGT TTCCAGAGAC AGTGAATCAT TTGGACTATT TGAGCTGTTT
 CTTTGATTTT GCCTCCAATT TTTAAATATT AATTTTTAAT GCTTTTTCTT GATTTCGCCT
 GTTTCAGAAA TTATCTTTTG ACTTCCTGTT TTGGAAGTTG GACGTGTAGC TCTTGCCCCC
 TCCACCCACC TAACTCACTA CTTTTCCTCT CCCCTTCATT CCAAAAGACC TGTTTCACAA
 TAGTCAGTGA TTATCATGTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009799.11
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs4986819 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss1347495624EAS 1008AF 0.968299980.03170000
EUR 1006AF 0.905600010.09440000
AFR 1322AF 0.800300000.19970000
AMR 694AF 0.926500020.07350000
SAS 978AF 0.945799950.05420000
ss168972316YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1691227701ExAc_Aggregated_Populations121390AF 0.900148270.09985172
ss198973424BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss226080378pilot_1_YRI_low_coverage_panel 118AF 0.855932180.14406779
ss23434463AFD_EUR_PANELEuropean 44IG0.681818190.31818181 0.654721000.840909060.15909091
AFD_AFR_PANELAfrican American 46IG0.608695630.347826090.043478261.000000000.782608690.21739130
AFD_CHN_PANELAsian 48IG0.833333310.16666667 1.000000000.916666690.08333334
ss236176669pilot_1_CEU_low_coverage_panel 120AF 0.916666690.08333334
ss5586213P1 202AF0.801999990.168000000.030000000.099721000.885999980.11400000
CAUC1 62AF0.805999990.19399999 0.583882000.903000000.09700000
AFR1 48AF0.458000030.416999970.125000001.000000000.667000000.33300000
HISP1 46AF0.956999960.04300000 1.000000000.977999990.02200000
PAC1 46AF1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.181+/-0.2400000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN