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Reference SNP (refSNP) Cluster Report: rs17650991                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
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=0.0873/437 (1000 Genomes)
C=0.1493/18746 (TOPMED)
HGVS Names
  • CM000679.2:g.45967142A>C
  • NC_000017.10:g.44044508A>C
  • NC_000017.10:g.44044508A>G
  • NC_000017.11:g.45967142A>C
  • NG_007398.1:g.77721A>C
  • NG_007398.1:g.77721A>G
  • NM_001123066.3:c.133+4672A>C
  • NM_001123066.3:c.133+4672A>G
  • NM_001123067.3:c.133+4672A>C
  • NM_001123067.3:c.133+4672A>G
  • NM_001203251.1:c.133+4672A>C
  • NM_001203251.1:c.133+4672A>G
  • NM_001203252.1:c.133+4672A>C
  • NM_001203252.1:c.133+4672A>G
  • NM_005910.5:c.133+4672A>C
  • NM_005910.5:c.133+4672A>G
  • NM_016834.4:c.133+4672A>C
  • NM_016834.4:c.133+4672A>G
  • NM_016835.3:c.133+4672A>C
  • NM_016835.3:c.133+4672A>G
  • NM_016835.4:c.133+4672A>C
  • NM_016835.4:c.133+4672A>G
  • NM_016841.4:c.133+4672A>C
  • NM_016841.4:c.133+4672A>G
  • NT_167251.2:g.821199G=
  • NT_167251.2:g.821199G>T
  • NT_187663.1:g.669270A>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 ss168213434 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17650991 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
ss24573281PERLEGEN|afd3283065byFreqfwd/TA/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg08/10/0409/13/04123Genomicunknown
ss168213434COMPLETE_GENOMICS|NA07022_36_chr17_41400344fwd/TA/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg09/30/0909/30/09132Genomicunknown
ss171447341COMPLETE_GENOMICS|NA20431_36_chr17_41400344fwd/TA/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg10/01/0910/01/09132Genomicunknown
ss202546369BUSHMAN|BUSHMAN-chr17-41400343fwd/TA/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg02/16/1003/08/10132Genomicunknown
ss207806446BCM-HGSC-SUB|BCM_CMT_1011-2900816fwd/TA/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg03/15/1003/19/10132Genomicunknown
ss2372511571000GENOMES|pilot_1_CEU_6855786_chr17_41400344fwd/A/Cagtggatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagtagatg05/01/1005/01/10137Genomicunknown
ss565286082TISHKOFF|snp_chr17_44044508fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt11/22/1211/23/12138Genomicunknown
ss661090234SSMP|17_44044508fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt12/14/1202/14/15138Genomicunknown
ss993130914EVA-GONL|EVA-GONL_rs17650991fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt04/23/1404/30/14142Genomicunknown
ss1081073569JMKIDD_LAB|HGDP_WGS_chr17_44044508fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt07/10/1407/12/14142Genomicunknown
ss13587482361000GENOMES|PHASE3_V1_72284578fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt08/16/1408/16/14142Genomicunknown
ss1578166190EVA_GENOME_DK|EVA_GENOME_DK_snv_rs17650991fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt02/19/1502/19/15144Genomicunknown
ss1635697303EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_44044508_39898197fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt03/04/1503/04/15144Genomicunknown
ss1678691336EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_44044508_39898197fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt03/04/1503/04/15144Genomicunknown
ss1697174130EVA_DECODE|EVA_DECODE_17_41400344_300138_rs17650991fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt03/02/1503/04/15144Genomicunknown
ss1697174131EVA_DECODE|EVA_DECODE_17_41400344_300139fwd/TA/Gatgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt03/02/1503/04/15144Genomicunknown
ss1936592114WEILL_CORNELL_DGM|SNV:chr17:44044508fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt10/16/1510/19/15147Genomicunknown
ss1968393896GENOMED|rs17650991fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt02/16/1602/16/16147Genomicunknown
ss2029072408JJLAB|SNP9574963fwd/TA/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt08/29/1608/31/16149Genomicunknown
ss2157545424USC_VALOUEV|NC_000017.10:g.44044508A>Cfwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt11/17/1611/17/16150Genomicunknown
ss2217024392HUMAN_LONGEVITY|HLI-17-45967142-A-Cfwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt11/18/1611/18/16150Genomicunknown
ss2382154754TOPMED|17_44044508_A/Cfwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt11/19/1611/19/16150Genomicunknown
ss2710850438ILLUMINA|Consortium-OncoArray_15047405_A_chr17_44044508_A_C-100_B_R_21987fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt03/22/1703/22/17151Genomicunknown
ss2950149687GNOMAD|rs17650991fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt05/23/1705/23/17151Genomicunknown
ss3015575273SWEGEN|NC_000017.10:g.44044508A>Cfwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt05/30/1705/30/17151Genomicunknown
ss3028357235BIOINF_KMB_FNS_UNIBA|17.45967142A>Cfwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt07/05/1707/05/17151Genomicunknown
ss3263463139TOPMED|TOPMed_freeze_5?chr17:45,967,142fwd/A/Catgctaagagttgaaatatggctggtacctgcccaagagagctgaaaagt10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17650991|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GCTTACCCAA AGAATATACT TTCCAAGAAA GCAAGTAATA CTTAAGGTGT TCATAATCCT
 CATCAAATTA ATTCTTGCTA CTGAAAGCTT ACAAGGAGCT GTTTTGATGT CGGGTGTGAC
 AGGTTTGACT TGGCAGAAGG TGTCACTTTA CTAACAACAT TTTAAATAAG TGACAGAAGA
 CAAGAAACTA CACGTTAAAT GCCAGAACAA AGAGTGTCTA AGTGGATGCT AAGAGTTGAA
 ATATGGCTGG
 M
 TACCTGCCCA AGAGAGCTGA AAAGTAGATG AAAGTTGGTT ACCTATAAAC TAGTGCACCC
 TAATGAATTA AAAGGTGTTG ATGAGTTAAC TTGTTATGCC TTCCAGATAA GACATGCAAA
 TGGGGCTTCT TCCTCCTTCA CTACTTCCAA GGGATTTAAC AAGGAGACCA ATGCAAATGA
 TAAGGACTGT AGGGCTCAAG CTGGGGACAG ATTGGGGAAA GGGGGACCAT CATGCCCATA
 TAGATGTCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000017.6
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
ss1358748236EAS 1008AF 0.999000010.00100000
EUR 1006AF 0.759400010.24059999
AFR 1322AF 0.981099960.01890000
AMR 694AF 0.842899980.15709999
SAS 978AF 0.938699960.06130000
ss168213434CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss171447341PGP 2IG 1.00000000 1.00000000
ss202546369BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss237251157pilot_1_CEU_low_coverage_panel 120AF 0.783333360.21666667
ss24573281AFD_EUR_PANELEuropean 48IG0.500000000.50000000 0.294266000.750000000.25000000
AFD_AFR_PANELAfrican American 46IG0.826086940.17391305 1.000000000.913043500.08695652
AFD_CHN_PANELAsian 48IG1.00000000 1.00000000
HapMap-CEUEuropean 106IG0.566037710.415094350.018867920.200325000.773584900.22641510
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 86IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 114IG0.982456150.01754386 1.000000000.991228040.00877193
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.159+/-0.2330000

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

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