NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs2127348                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.3415/1710 (1000 Genomes)
C=0.3374/42367 (TOPMED)
HGVS Names
  • CM000672.2:g.60740945A>C
  • NC_000010.10:g.62500703A>C
  • NC_000010.11:g.60740945A>C
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 ss280640380 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2127348 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
ss3050858TSC-CSHL|TSC1135265fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa06/07/0110/10/0396Genomicunknown
ss12953977SC_SNP|NT_008583.15_11051851fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa10/22/0310/31/03119Genomicunknown
ss39862461ABI|hCV15826970fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa07/16/0507/16/05126Genomicunknown
ss78104430HGSV|Cor12878_SNV_20070510.chr10_62170709fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa10/17/0710/17/07129Genomicunknown
ss82224227HGSV|Cor19240_SNV_20070510.chr10_62170709fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa11/30/0712/02/07130Genomicunknown
ss1094907981000GENOMES|CEU.trio.12.15.2008_2363544_chr10_62170709fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa12/16/0812/16/08130Genomicunknown
ss119190054ILLUMINA-UK|NA18507_000080423_NCBI36.1_chr10_62170709fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa01/21/0901/22/09130Genomic99 %
ss155112059GMI|GMI_SNP_75755843fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa06/24/0906/24/09131Genomicunknown
ss207375800BCM-HGSC-SUB|BCM_CMT_1011-2081889fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa03/15/1003/18/10132Genomicunknown
ss2109868661000GENOMES|YRI.trio.3.2010_955380_chr10_62170709fwd/TA/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa03/29/1003/29/10132Genomicunknown
ss2247582281000GENOMES|pilot_1_YRI_6567911_chr10_62170709fwd/A/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa04/22/1004/22/10132Genomicunknown
ss2351992521000GENOMES|pilot_1_CEU_4803881_chr10_62170709fwd/A/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa05/01/1005/01/10132Genomicunknown
ss2419005001000GENOMES|pilot_1_CHB+JPT_3785577_chr10_62170709fwd/A/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa05/01/1005/01/10132Genomicunknown
ss280640380GMI|GMI_AK_SNP_4960715fwd/A/Catttttctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaacacaa12/16/1012/16/10137Genomicunknown
ss656817616SSMP|10_62500703fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa12/14/1202/12/15138Genomicunknown
ss987549632EVA-GONL|EVA-GONL_rs2127348fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa04/23/1404/25/14142Genomicunknown
ss1077032138JMKIDD_LAB|HGDP_WGS_chr10_62500703fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa07/10/1407/11/14142Genomicunknown
ss13376669591000GENOMES|PHASE3_V1_50329634fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa08/16/1408/16/14142Genomicunknown
ss1426339514DDI|DDI_rs2127348fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa11/04/1411/04/14144Genomicunknown
ss1575154111EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2127348fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa02/19/1502/19/15144Genomicunknown
ss1597216085EVA_DECODE|EVA_DECODE_10_62170709_472070_rs2127348fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa03/02/1503/03/15144Genomicunknown
ss1624686428EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_62500703_27785674fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa03/04/1503/04/15144Genomicunknown
ss1667680461EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_62500703_27785674fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa03/04/1503/04/15144Genomicunknown
ss1930913550WEILL_CORNELL_DGM|SNV:chr10:62500703fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa10/16/1510/17/15147Genomicunknown
ss2026180021JJLAB|SNP6682576fwd/TA/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa08/29/1608/30/16149Genomicunknown
ss2154453170USC_VALOUEV|NC_000010.10:g.62500703A>Cfwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa11/17/1611/17/16150Genomicunknown
ss2175215922HUMAN_LONGEVITY|HLI-10-60740945-A-Cfwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa11/18/1611/18/16150Genomicunknown
ss2698697286GRF|rs2127348fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa02/13/1702/13/17151Genomicunknown
ss2889428142GNOMAD|rs2127348fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa05/19/1705/19/17151Genomicunknown
ss3006572576SWEGEN|NC_000010.10:g.62500703A>Cfwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa05/30/1705/30/17151Genomicunknown
ss3026881155BIOINF_KMB_FNS_UNIBA|10.60740945A>Cfwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa07/05/1707/05/17151Genomicunknown
ss3349150230CSHL|rs2127348fwd/A/Ctctatttaaaccagaaagtaaataatgtaataaaaatagaaacataccaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2127348|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 ATGATGGTGC ATGCCTGTGG TCCCAGCTAT TTCCAAGGCC GAGGCAGGAG TATAGCTTGA
 CCCCCGGAGG TGGAGGCTGC AGTGAACTGT GATTGTGCCA CTGCACTCCT GCCTGGGCGA
 CAGCCAGACC CTGTCTCAAA AAATAAAATT TCATTTTTAT TTCTTCCCAC ATAACTCCTG
 TTAGTCCTTT CTCGTTTCAC CCTTTATTCT CCCCCATTCT GATTCTAAAC CAGAATCAGC
 CTCTCTCAAT TCATACATGT TTTCATCTTA TTTCTGAACA AAGGGAAAAA ATAATCTGGA
 AGGTACTTGA TCTACTCCAT GCATGCTTTG ATTCTAGTGC CTACGGAATT GCCTGCTTTA
 GCCTTTGTAT TTTGTAAAAC TGTTTCTAAT GGCCTTGTAT GGAACTTCTT CACCTAGGAA
 TTCTAATCAT ATACTACTTA CATGATATGA GTCTTGAACT TCAAATCTGG ATTTTTCTAT
 TTAAACCAGA AAGTAAATAA
 M
 TGTAATAAAA ATAGAAACAT ACCAACACAA CTCCCCAAAA CTATGTGCAG CAACTCTGGC
 TACACTCTCA GAGAGACCCC AACATTTTTG GTTACTTGGA CATCCTGTAA CTGATCATTT
 TATTTTGCCA CACGCTTCCC CTAGCACACT CTTTCAAGTA CAGTATATAG CTTGCTTAAA
 TTTCACATTG AAAGTTTTGG AAAGCCATAT GAAATTATTC CAGATAGCTG CAGGTTGCTA
 ATAAAACCAT AGTTAGGGAT CACCAACTTA GTAAAAATTG AAACTAGAGA AACAGTCTTC
 ATAATCTTTA GCCGAGGCAG TCCCTTCTTT CCATATTATC ATCACTTTCT GTTCAAAGCA
 CATACTTTTC ATGCTTCTGT GTATAGTTAA ACATGTTTCT ATACTCCGAA AAGTTGTCAT
 ATCCCAGAGC CATTCACATC ATAATTACAG TAGAGTTGAA CATTTATATT AAAATTGTTC
 GCAGATGGCA ATTAAGGTAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008583
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.
SourceA/A
A/C
HWPA
C
ss119190054YRI 2IG 1.00000000 0.500000000.50000000
ss1337666959EAS 1008AF 0.532700000.46730000
EUR 1006AF 0.706799980.29319999
AFR 1322AF 0.604399980.39560002
AMR 694AF 0.680100020.31990001
SAS 978AF 0.796499970.20349999
ss224758228pilot_1_YRI_low_coverage_panel 118AF 0.559322060.44067797
ss235199252pilot_1_CEU_low_coverage_panel 120AF 0.750000000.25000000
ss241900500pilot_1_CHB+JPT_low_coverage_panel 120AF 0.633333330.36666667
ss3050858ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.450+/-0.1500000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN