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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs11248975                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
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=0.4032/2019 (1000 Genomes)
C=0.4065/51045 (TOPMED)
HGVS Names
  • CM000663.2:g.25052828A>C
  • NC_000001.10:g.25379319A>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 ss275757597 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11248975 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
ss16384116CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_077383.3_1015544byFreqfwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct02/17/0410/26/06120Genomicunknown
ss18069718SC_SNP|SC-CHR1_NA11321-200402.chr1.NT_077383.3_1015544fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct02/20/0403/04/04120Genomicunknown
ss20429421SSAHASNP|WGSA-200403-chr1.chr1.NT_077383.3_1015544fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct03/18/0403/18/04121Genomicunknown
ss41105780ABI|hCV11467335fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct07/16/0507/17/05126Genomicunknown
ss68761750PERLEGEN|PGP06422950byFreqfwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct01/30/0703/31/08127Genomicunknown
ss87310150BCMHGSC_JDW|JWB-0025781fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct02/26/0802/26/08129Genomicunknown
ss97926452HUMANGENOME_JCVI|1103675049822fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct03/30/0803/30/08130Genomicunknown
ss102729019BGI|BGI_rs11248975fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct06/04/0806/16/09131Genomicunknown
ss1080715351000GENOMES|CEU.trio.12.15.2008_33460_chr1_25251906fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct12/15/0812/15/08130Genomicunknown
ss131776445ENSEMBL|ENSSNP201758fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct12/08/0810/14/09131Genomicunknown
ss137851195ENSEMBL|ENSSNP6501624fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct05/15/0905/16/09131Genomicunknown
ss163996551COMPLETE_GENOMICS|NA07022_36_chr1_25251906fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct09/28/0909/29/09132Genomicunknown
ss166260423COMPLETE_GENOMICS|NA20431_36_chr1_25251906fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct09/30/0909/30/09132Genomicunknown
ss171218834ILLUMINA|Human1M-Duov3_B_rs11248975-128_B_R_1512794255rev/BG/Tagaaacctgcctgaggtcacatagcttgtgctggtctgctcaggctgccataacaaaata10/01/0910/01/09132Genomicunknown
ss198188019BUSHMAN|BUSHMAN-chr1-25251905fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct02/16/1003/06/10132Genomicunknown
ss205323452BCM-HGSC-SUB|BCM_CMT_1011-141202fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct03/15/1003/15/10132Genomicunknown
ss2104897571000GENOMES|YRI.trio.3.2010_13989_chr1_25251906fwd/TA/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct03/29/1003/29/10132Genomicunknown
ss2182889091000GENOMES|pilot_1_YRI_98592_chr1_25251906fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct04/22/1004/22/10132Genomicunknown
ss2304664681000GENOMES|pilot_1_CEU_71097_chr1_25251906fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct05/01/1005/01/10132Genomicunknown
ss2381731131000GENOMES|pilot_1_CHB+JPT_58190_chr1_25251906fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct05/01/1005/01/10132Genomicunknown
ss275757597GMI|GMI_AK_SNP_77760fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct12/16/1012/16/10137Genomicunknown
ss284021286GMI|GMI_NA10851_SNP_34052fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct12/17/1012/17/10138Genomicunknown
ss290792730PJP|SNP_299088_chr1_25251906fwd/A/Ctattttgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcaggtttct01/21/1101/21/11134Genomicunknown
ss536691575ILLUMINA|HumanOmni5-4v1_B_rs11248975-131_B_R_1909602881fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg06/22/1208/28/15146Genomicunknown
ss553904909TISHKOFF|snp_chr1_25379319fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg11/22/1211/22/12138Genomicunknown
ss647647257SSMP|1_25379319fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg12/14/1202/09/15138Genomicunknown
ss974958453EVA-GONL|EVA-GONL_rs11248975fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg04/23/1404/23/14142Genomicunknown
ss12900818671000GENOMES|PHASE3_V1_775919fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg08/16/1408/16/14142Genomicunknown
ss1425749818DDI|DDI_rs11248975fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg11/04/1411/04/14144Genomicunknown
ss1573948210EVA_GENOME_DK|EVA_GENOME_DK_snv_rs11248975fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg02/19/1502/19/15144Genomicunknown
ss1599751155EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_25379319_410870fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg03/04/1503/04/15144Genomicunknown
ss1642745188EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_25379319_410870fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg03/04/1503/04/15144Genomicunknown
ss1794079320HAMMER_LAB|Hsieh_87994fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg07/15/1507/15/15146Genomicunknown
ss1918170107WEILL_CORNELL_DGM|SNV:chr1:25379319fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg10/16/1510/16/15147Genomicunknown
ss1966707561GENOMED|rs11248975fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg02/16/1602/16/16147Genomicunknown
ss2019597277JJLAB|SNP99832fwd/TA/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg08/29/1608/30/16149Genomicunknown
ss2147603370USC_VALOUEV|NC_000001.10:g.25379319A>Cfwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg11/17/1611/17/16150Genomicunknown
ss2160823638HUMAN_LONGEVITY|HLI-1-25052828-A-Cfwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg11/18/1611/18/16150Genomicunknown
ss2624315635SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV62705fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg01/06/1701/06/17151Genomicunknown
ss2697508850GRF|rs11248975fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg02/13/1702/13/17151Genomicunknown
ss2752802006GNOMAD|rs11248975fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg05/17/1705/17/17151Genomicunknown
ss2986486000SWEGEN|NC_000001.10:g.25379319A>Cfwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg05/30/1705/30/17151Genomicunknown
ss3023564515BIOINF_KMB_FNS_UNIBA|1.25052828A>Cfwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg07/05/1707/05/17151Genomicunknown
ss3343372903CSHL|rs11248975fwd/A/Ctgttatggcagcctgagcagaccagcacaagctatgtgacctcaggcagg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11248975|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 CCTGGGAGCC CCAACCACTC ATCCCCCCGA CATGTGTGCT CAAGGCCAGG GCTGTGGTCT
 GGGTTCAGAT CTCGACTTGG CGCCTGGTTA AACCAATGCT AGGACCAAGA GATTCGATAG
 CAAGTTATGA ACTGAACATT TGTGACCCCC AAATTCACAT GCCATCACCC CCACTATGGC
 TATATTTGGA GATGGGGCCC CTAAGGGAGT AATTAAGGTT AAATGAGGTC CTGAGGGTGG
 GGCCCTGTGG ACCCAAGGCG GGTACTATTG TCCTCATAAG AAGAGACACC AGAGAACTCA
 TTCCCTCTCT CCACGCACAC ACAAAGCGAG ATGGCAACAG CCCACGGCCA AGAGAAGGGT
 GAAACCTCTC TGGTAATAAA GCTTACCTTG CTGGCACCTT GATCTTGGAC CTTCCAACCT
 CCAGAACTGT GAGAAATAAA TTTCTGTTAT TTAAGCCACC CAATCCATGG TATTTTGTTA
 TGGCAGCCTG AGCAGACCAG
 M
 CACAAGCTAT GTGACCTCAG GCAGGTTTCT TAGTCTCCCC ATGCCTCAGT TTCCTCATAT
 GTGAGCTCTG AGGACCGTAA GCACACATGA CAAAGCTCAG TCAGGGTGGA GTCCCGCACC
 AGGTGGCAGC TGCTCCCATG GCTGTCCCCT GAACAAATTC TGCACCTGCA ATGCCCTTCT
 CCTCCCTCCT GGCACCTGAA TCCTACCCTT CTTCCTAGTT CACCCCTGGG ACCCCTTCTT
 GGCCTCCTGC ATGGTCTCTT TCTCTCCAGA ACTCCTAGAG CCCCTCCTGG GTATATGTGA
 GCCTGGGCAT TTGCCTAATA CCTGGTATTT TTCATCTTCC CAAATGGTCC ATCCCATCTC
 CACCCACCCC CATCCCCACA CACACATTCT AGGCGTGCCC AAGGCTGCGG CTCTGAGCCT
 CAGTTTGCTT CCTTCCAGAG AAACCAAGTT CAGGGCAAGT CCATGGGAGA TGCTGAAGAC
 AACAGTGTCT AAAATTGTAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077383 ABBA01059927
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
C/C
HWPA
C
ss1290081867EAS 1008AF 0.519799950.48019999
EUR 1006AF 0.592400010.40759999
AFR 1322AF 0.652799960.34720001
AMR 694AF 0.476899980.52310002
SAS 978AF 0.690200030.30980000
ss131776445ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 4IG 0.500000000.50000000 0.250000000.75000000
ss137851195ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss16384116HapMap-CEUEuropean 120IG0.316666660.516666650.166666670.751830000.574999990.42500001
HapMap-HCBAsian 82IG0.292682920.463414640.243902440.654721000.524390220.47560975
HapMap-JPTAsian 88IG0.181818190.431818190.386363630.527089000.397727280.60227275
HapMap-YRISub-Saharan African 116IG0.482758610.344827590.172413800.099721000.655172410.34482759
ss163996551CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss166260423PGP 2IG 1.00000000 1.00000000
ss198188019BANTU 2IG 1.00000000 0.500000000.50000000
ss218288909pilot_1_YRI_low_coverage_panel 118AF 0.661016940.33898306
ss230466468pilot_1_CEU_low_coverage_panel 120AF 0.583333310.41666666
ss238173113pilot_1_CHB+JPT_low_coverage_panel 120AF 0.466666670.53333336
ss68761750HapMap-CEUEuropean 120IG0.316666660.516666650.166666670.751830000.574999990.42500001
HapMap-HCBAsian 90IG0.288888900.466666670.244444440.751830000.522222220.47777778
HapMap-JPTAsian 90IG0.177777780.444444450.377777790.654721000.400000010.60000002
HapMap-YRISub-Saharan African 120IG0.466666670.366666670.166666670.150222000.649999980.34999999
ss97926452J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.481+/-0.0950000

  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