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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs2448334                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4151/2079 (1000 Genomes)
G=0.3924/49275 (TOPMED)
HGVS Names
  • CM000672.2:g.60764018C>G
  • NC_000010.10:g.62523776C>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 ss15557913 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2448334 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
ss3432063SC_JCM|AC022390.4_135403fwd/TC/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag09/24/0110/10/03100Genomicunknown
ss6845731WI_SSAHASNP|NT_033984.3_2823814fwd/TC/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag02/12/0310/10/03111Genomicunknown
ss12091741WI_SSAHASNP|chr10.NT_008583.15_11074924fwd/TC/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag07/04/0310/10/03116Genomicunknown
ss12953985SC_SNP|NT_008583.15_11074924fwd/TC/Ggggaggcagaggttgcagtgaaccaagatatccagaaaaaggagaaaagtcacaaataaa10/22/0310/31/03123Genomicunknown
ss15557913SC_SNP|NT_008583.16_11074931fwd/TC/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag11/17/0311/22/03120Genomicunknown
ss97654613HUMANGENOME_JCVI|1103649954724fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag03/29/0803/29/08130Genomicunknown
ss102883644BGI|BGI_rs2448334fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag06/05/0806/17/09131Genomicunknown
ss144099146ENSEMBL|ENSSNP5529392fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag12/08/0810/17/09131Genomicunknown
ss155112354GMI|GMI_SNP_75274386fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag06/24/0906/24/09131Genomicunknown
ss168447752COMPLETE_GENOMICS|NA07022_36_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag09/30/0910/01/09132Genomicunknown
ss170176016COMPLETE_GENOMICS|NA19240_36_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag10/01/0910/04/09132Genomicunknown
ss174575014COMPLETE_GENOMICS|NA20431_36_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag10/01/0910/04/09132Genomicunknown
ss201594576BUSHMAN|BUSHMAN-chr10-62193781fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag02/16/1003/08/10132Genomicunknown
ss2247583501000GENOMES|pilot_1_YRI_6568033_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag04/22/1004/22/10132Genomicunknown
ss2351993431000GENOMES|pilot_1_CEU_4803972_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag05/01/1005/01/10132Genomicunknown
ss2419005771000GENOMES|pilot_1_CHB+JPT_3785654_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag05/01/1005/01/10132Genomicunknown
ss254360617BL|SNP77847_10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag08/19/1008/19/10134Genomicunknown
ss280640466GMI|GMI_AK_SNP_4960801fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag12/16/1012/16/10137Genomicunknown
ss290850698PJP|SNP_357056_chr10_62193782fwd/C/Ggggaggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaacagag01/21/1101/21/11134Genomicunknown
ss561993034TISHKOFF|snp_chr10_62523776fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa11/22/1211/23/12138Genomicunknown
ss656817888SSMP|10_62523776fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa12/14/1202/12/15138Genomicunknown
ss987549807EVA-GONL|EVA-GONL_rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa04/23/1404/25/14142Genomicunknown
ss1077032300JMKIDD_LAB|HGDP_WGS_chr10_62523776fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa07/10/1407/11/14142Genomicunknown
ss13376676931000GENOMES|PHASE3_V1_50330392fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa08/16/1408/16/14142Genomicunknown
ss1426339591DDI|DDI_rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa11/04/1411/04/14144Genomicunknown
ss1575154271EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa02/19/1502/19/15144Genomicunknown
ss1597216272EVA_DECODE|EVA_DECODE_10_62193782_472257_rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa03/02/1503/03/15144Genomicunknown
ss1624686830EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_62523776_27786095fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa03/04/1503/04/15144Genomicunknown
ss1667680863EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_62523776_27786095fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa03/04/1503/04/15144Genomicunknown
ss1806415989HAMMER_LAB|Hsieh_5434143fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa07/15/1507/16/15146Genomicunknown
ss1930913755WEILL_CORNELL_DGM|SNV:chr10:62523776fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa10/16/1510/17/15147Genomicunknown
ss1967142986GENOMED|rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa02/16/1602/16/16147Genomicunknown
ss2026180128JJLAB|SNP6682683fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa08/29/1608/30/16149Genomicunknown
ss2154453276USC_VALOUEV|NC_000010.10:g.62523776C>Gfwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa11/17/1611/17/16150Genomicunknown
ss2175217285HUMAN_LONGEVITY|HLI-10-60764018-C-Gfwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa11/18/1611/18/16150Genomicunknown
ss2627560435SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4238111fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa01/06/1701/06/17151Genomicunknown
ss2698697395GRF|rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa02/13/1702/13/17151Genomicunknown
ss2889429915GNOMAD|rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa05/19/1705/19/17151Genomicunknown
ss3006572873SWEGEN|NC_000010.10:g.62523776C>Gfwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa05/30/1705/30/17151Genomicunknown
ss3026881233BIOINF_KMB_FNS_UNIBA|10.60764018C>Gfwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa07/05/1707/05/17151Genomicunknown
ss3349150327CSHL|rs2448334fwd/C/Ggcagaggttgcagtgaaccaagatatgccactgcactccagtctgggcaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2448334|allelePos=305|totalLen=1145|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 ATCTCATAGT ATACAGCAAA AATGACATTA TGAGGGACAT CTTTAGATAT TAATACTTAT
 ATTAGGAAAG ACAAGATACT AAATGTTAAT GCATAGGAGG AGAGAGATAA TACAAATAGA
 AGCAGAAATT AATGAAATAT AAAATTATAG ATACAACGGA GAACGTTAAC AAAGGCAAAC
 ATGGGTTCTT CCAAAACAAA CAGGGCAGGC GTGGTGGCAT GTGTCTGTAA TCCCAGCTAC
 TCAAGAGGCT GAGACATGAG AATCGCTTGA ACCTGGGAGG CAGAGGTTGC AGTGAACCAA
 GATA
 S
 TGCCACTGCA CTCCAGTCTG GGCAACAGAG CTAGACTCTG TCTCAAAAAA CACCAAAACA
 GAAACAACAG TAAGAAAAAA CAAACAAAGA TAACCTTCTG GCAAGATTGT ACCAGAAAAA
 GGAGAAAAGT CACAAATAAA TAGTATCATG AATTAAAACA ATGTATAGAC CTGCTGGAGA
 TATAAAATGT AGTAAGAGAA TACTACTATC ACCTATGTAC CAACAATTTG AAAAATTGTA
 CCCAATGTAA AAATTTCTTG AAAAATATAA CTTAATAACC AAATATTAGC ACAATATCTG
 CTTCCAAGCT CATTCACTAG CAGAACTAGT TCATTGCTGG CTCTTGGAAG GAGACTAGTT
 TCTCACCCAA AGGCCACTCC AACCATGGCC TAAGTGTTCT CATGGCATAC TGGCTAGAGG
 GAGAAGAATT AAGACCCACC TCATGAGTGG AAGAGTATTA AAGAATTTAT GAACACAACT
 ATAAAATGGA AAAATTTATA TTTAAAAATT TTATTTTATT TGAGACAGTG TCTCGCTTTG
 TCCTCCAGGC TAGAGTGCAG TGGTGCAATC ATGGTTCATT GCAGTCTCAA ACTCCTGAGC
 TCAAGCAATC CTCCCACCTC GGCCTCCAAA GTAGCTGGGA CTATAGGCAC ATACCACCAC
 ACCCAGCTAA TTTGTTTGTA TTTTTTGTAG AGATAGGGTT TAATGATGTT GCCCAGGCTG
 GTCTCAAACT CCTGGGCTCA AGTGATCTGC CCTCCTTGGC CTCCCAAAAT GCTGGGATTA
 CAGGCGTGAG CCACCATGTC CAGCCTAAAA TGAAAAGATT TAATTAAAAA TTACAATTAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008583 ABBA01019464 AC027678
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.
SourceC/C
C/G
G/G
HWPC
G
ss1337667693EAS 1008AF 0.412700000.58730000
EUR 1006AF 0.652099970.34790000
AFR 1322AF 0.565100010.43490002
AMR 694AF 0.684400020.31560001
SAS 978AF 0.649299980.35069999
ss144099146ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss15557913ENSEMBL_Watson 2IG1.00000000 1.00000000
ss168447752CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss170176016YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss174575014PGP 2IG 1.00000000 1.00000000
ss201594576BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss224758350pilot_1_YRI_low_coverage_panel 118AF 0.533898290.46610171
ss235199343pilot_1_CEU_low_coverage_panel 120AF 0.708333310.29166666
ss241900577pilot_1_CHB+JPT_low_coverage_panel 120AF 0.400000010.60000002
ss97654613J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.486+/-0.0840000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN