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Reference SNP (refSNP) Cluster Report: rs908832                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/144
Map to Genome Build:107/Weight
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0361/181
MAF Source:1000 Genomes
HGVS Names
  • NC_000009.11:g.139912484A>G
  • NC_000009.12:g.137018032A>G
  • NG_011789.1:g.15891T>C
  • NM_001606.4:c.2037T>C
  • NM_212533.2:c.2127T>C
  • NP_001597.2:p.Asp679=
  • NP_997698.1:p.Asp709=
  • XM_006716996.2:c.2034T>C
  • XM_011518346.1:c.2124T>C
  • XP_006717059.1:p.Asp678=
  • XP_011516648.1:p.Asp708=
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 ss280436963 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs908832 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
ss1342584TSC-CSHL|TSC0189559byFreqfwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg09/06/0005/16/0486Genomic95 %
ss5977974SC_JCM|NT_024000.12_396240rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg01/10/0310/10/03111Genomicunknown
ss12947110SC_SNP|NT_024000.15_663563fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg10/21/0311/18/03119Genomicunknown
ss22857998SSAHASNP|WGSA-200403-chr9.chr9.NT_024000.15_663563fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg03/21/0403/22/04121Genomicunknown
ss48401471APPLERA_GI|hCV9456380fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg09/28/0511/30/05126Genomicunknown
ss77499334HGSV|Cor12156_SNV_20070510.chr9_137188321fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg10/09/0710/13/07129Genomicunknown
ss85411543HGSV|Cor19129_SNV_20070510.chr9_137188321fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg12/06/0712/09/07130Genomicunknown
ss94201454BCMHGSC_JDW|JWB-2661499fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg02/26/0803/06/08129Genomicunknown
ss97757117HUMANGENOME_JCVI|1103652207331fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg03/30/0803/30/08130Genomicunknown
ss105708762BGI|BGI_rs908832fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg09/10/0806/18/09130Genomicunknown
ss1152104041000GENOMES|NA19240_2008_12_16_2054278_chr9_139032305fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg12/19/0812/19/08130Genomicunknown
ss134206398ENSEMBL|ENSSNP2950236fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg12/08/0810/15/09131Genomicunknown
ss144409571ENSEMBL|ENSSNP6396180fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg06/05/0906/06/09131Genomicunknown
ss158068406GMI|GMI_SNP_69654292fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg06/24/0906/25/09131Genomicunknown
ss159719741SEATTLESEQ|ABCA2-139032305fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg07/10/0907/10/09131Genomicunknown
ss160966243ILLUMINA|HumanOmni1-Quad_v1-0_B_rs908832-128_B_R_1562522812rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg08/04/0910/05/09131Genomicunknown
ss165076296COMPLETE_GENOMICS|NA07022_36_chr9_139032305fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg09/29/0909/30/09132Genomicunknown
ss168927905ILLUMINA|Human1M-Duov3_B_GA008041-0_B_R_1533428252rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg10/01/0910/01/09132Genomicunknown
ss201012916BUSHMAN|BUSHMAN-chr9-139032304fwd/A/C/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg02/16/1003/07/10132Genomicunknown
ss206864756BCM-HGSC-SUB|BCM_CMT_1011-1910326fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg03/15/1003/18/10132Genomicunknown
ss2107502061000GENOMES|CEU.trio.3.2010_99834_chr9_139032305fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg03/29/1003/29/10132Genomicunknown
ss2245085251000GENOMES|pilot_1_YRI_6318208_chr9_139032305fwd/A/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg04/22/1004/22/10132Genomicunknown
ss2350095721000GENOMES|pilot_1_CEU_4614201_chr9_139032305fwd/A/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg05/01/1005/01/10132Genomicunknown
ss2417511941000GENOMES|pilot_1_CHB+JPT_3636271_chr9_139032305fwd/A/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg05/01/1005/01/10132Genomicunknown
ss244313729ILLUMINA|CVDSNP55v1_A_rs908832rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg06/10/1006/10/10132Genomicunknown
ss254643404BL|SNP132519_9_139032305fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg08/19/1008/19/10134Genomicunknown
ss280436963GMI|GMI_AK_SNP_4757280fwd/A/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg12/16/1012/16/10137Genomicunknown
ss294392011PJP|SNP_3898369_chr9_139032305fwd/A/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg01/21/1101/21/11134Genomicunknown
ss481837043ILLUMINA|HumanOmni2.5-4v1_B_rs908832-128_B_R_1616888117rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg01/30/1202/01/12137Genomicunknown
ss481869647ILLUMINA|HumanOmniExpress-12v1_C_rs908832-131_B_R_1858002514rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg01/30/1202/01/12137Genomicunknown
ss482827490ILLUMINA|HumanOmni1-Quad_v1-0_C_rs908832-131_B_R_1858002514rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg01/30/1202/02/12137Genomicunknown
ss485713036ILLUMINA|HumanOmni2.5-4v1_D_rs908832-131_B_R_1858002514rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg01/30/1202/05/12137Genomicunknown
ss4909903621000GENOMES|20110521_exome_498160_chr9_139912484fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg02/10/1202/21/12137Genomicunknown
ss491431128EXOME_CHIP|nonsyn_147354_chr_9_139912484fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg03/05/1203/05/12137Genomicunknown
ss491947127CLINSEQ_SNP|SNV-chr9-139032305byFreqfwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/06/1209/05/14137Genomicunknown
ss532733640ILLUMINA|HumanOmni5-4v1_B__GA008041-0_B_R_1852967855rev/BC/Tcgccatcatcgacacttttgtggggcacgagtggtggagccaggcagctacgtgcagatg06/22/1206/22/12138Genomicunknown
ss561702988TISHKOFF|snp_chr9_139912484fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga11/22/1211/23/12138Genomicunknown
ss656200426SSMP|9_139912484fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga12/14/1202/12/15138Genomicunknown
ss712923252NHLBI-ESP|ESP6500SI-chr9-139912484fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg02/20/1302/20/13138Genomicunknown
ss780883323ILLUMINA|HumanOmni25Exome-8v1_A_exm801052-0_T_F_1922361875fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg05/30/1305/30/13142Genomicunknown
ss783569242ILLUMINA|HumanOmniExpressExome-8v1_A_exm801052-0_T_F_1922361875fwd/TA/Gcatctgcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatgatggcg05/31/1305/31/13142Genomicunknown
ss974473403JMKIDD_LAB|KhoeSan_Exomes_chr9_139912484fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/06/1403/06/14142Genomicunknown
ss987087358EVA-GONL|EVA-GONL_rs908832fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga04/23/1404/25/14142Genomicunknown
ss1067509794JMKIDD_LAB|HGDP_exomes_chr9_139912484fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga07/09/1407/09/14142Genomicunknown
ss1076682593JMKIDD_LAB|HGDP_WGS_chr9_139912484fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga07/10/1407/11/14142Genomicunknown
ss13358719271000GENOMES|PHASE3_V1_48460166fwd/A/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga08/16/1408/16/14142Genomicunknown
ss1431990980DDI|DDI_rs908832fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga11/04/1411/05/14144Genomicunknown
ss1583298357EVA_GENOME_DK|EVA_GENOME_DK_snv_rs908832fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga02/19/1502/20/15144Genomicunknown
ss1584066108EVA_FINRISK|EVA_FINRISK_rs908832fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga02/27/1502/27/15144Genomicunknown
ss1596735136EVA_DECODE|EVA_DECODE_9_139032305_911770_rs908832fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/02/1503/03/15144Genomicunknown
ss1623780045EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_139912484_26787262fwd/A/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/04/1503/04/15144Genomicunknown
ss1666774078EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_139912484_26787262fwd/A/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/04/1503/04/15144Genomicunknown
ss1689766587EVA_EXAC|EVA_EXAC_4906242fwd/A/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/04/1503/04/15144Genomicunknown
ss1711244044EVA_XIMO|EVA_XIMO_359804fwd/TA/Ggcacgtagctgcctggctccaccactcgtgccccacaaaagtgtcgatga03/09/1503/09/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs908832|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=144
 GCCAGGAAGA GCCAGATGAT GACCACGTGG CTGTGCATAA GCACCTGGCC GTACTTCAGG
 ATGGCGGTGA GTGCTGTCAC GGAGATGGAC AGCTGCACAA AGCCGGTGAT GAACCAGGCC
 ACCCAGTGCA CCGCGTTGTT CAGGCCCATG GTCTTCATCA CCTGCGGGTG GGCCAGGGGC
 TTGGGGCAGG CCCCGGGGAG GACGCCGCCC CTCCCTGCCA GCCCGCGCCT CCAGGGAGAG
 TCCCGGCCCG CGCACCTCCT TGAGCCGGTG CTCCTTCTCC GCCACGATGT GCTGGATGGT
 CATGGCCACG GAGTAGACCC AGGAGATCAC CATGCACAGC GGCATCATGT GCTCAATGAC
 AAACAGGAAG CTGCGGGGAG GCCGCGCTCA GGCGCCACTC AGCCCCAGCC CCAGCCCCAG
 CCCCGGGCGC CCAGCACTCA CTCATCGCGT GTGTAGCAGG GGTAGGGGAA CATCTGCACG
 TAGCTGCCTG GCTCCACCAC
 V
 TCGTGCCCCA CAAAAGTGTC GATGATGGCG CGCTCCATCA TGTCTGTGGG TGGGGGCAGC
 CATCAGGTGC CGGGCAGGCC CTCTCGTCCT CACACCTGTC CTCCCCCATG AATCCTCCAG
 CCGGTCTTCC GGGCCTGCTC CTCACCCTGG ATCCAGACGA AGCCGTAGAG GAAGTAGAAG
 CGGCCGCCAG TATTGGGCCC AGGCCGCCAG TAGGCGCGGC GGATCTCGTT GGTTTTCTCG
 GTGAAGCTGG AGTTCTGGCG GATCTTGTAG TGCACGTGAG GCGGGAGCGA GCCGTCCTTC
 CGGGTCTGGA AGATCACACC TGGGGCCGGG AGGTTGGGGC GGGGCCAAGA TGCAGGGGCG
 GGACCAAGGC GTGGTGGGGG GGAAAGCAAG GCACGGGGGC GGGGCCAAGG TGTGGGGGCG
 GGGACAGGAG GGTCCAGGGA AAGGTGGGAC AGGGCTGGGG TGGGGGCCCC AGGGGAAAGG
 TGGGCAGAAG TGGGGAGGTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024000.12 ABBA01022736
dbSNP Blast Analysis
UniGene Cluster ID
421202
OMIM
600047
104300

  Population Diversity (in rs orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
C
G
G/G
HWPA
C
G
ss134206398ENSEMBL_Venter 2IG 1.000 1.000
ss1342584CEPH 184AF 0.230 0.770
ss144409571ENSEMBL_Watson 2IG 1.000 1.000
ss165076296CEUEuropean 2IG 1.000 1.000
ss1689766587ALL120186AF 0.027 0.973
ss201012916BUSHMAN_POP 1IG 1.000 1.000
BUSHMAN_POP2 1IG 1.000 1.000
ss224508525pilot_1_YRI_low_coverage_panel 118AF 0.034 0.966
ss235009572pilot_1_CEU_low_coverage_panel 120AF 0.025 0.975
ss241751194pilot_1_CHB+JPT_low_coverage_panel 120AF 1.000
ss491947127CSAgilent 1163GF 0.064 0.936 0.032 0.968
ss97757117J. Craig Venter 2IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.070+/-0.1736600

  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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