NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs9971637                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1534/768 (1000 Genomes)
A=0.1408/17686 (TOPMED)
HGVS Names
  • CM000674.2:g.17220805G>A
  • CM000674.2:g.17220805G>T
  • NC_000012.11:g.17373739G>A
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 ss281292403 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9971637 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
ss13813258WUGSC_SSAHASNP|chr12.NT_009714.16_10132713byFreqfwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt11/05/0305/17/04119Genomicunknown
ss23303025PERLEGEN|afd2013608byFreqfwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt08/10/0409/13/04123Genomicunknown
ss66696484ILLUMINA|HumanHap300v1.1_rs9971637fwd/BA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt11/09/0611/09/06127Genomicunknown
ss67965825ILLUMINA|HumanHap550v1.1_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt11/14/0611/15/06127Genomicunknown
ss68072438ILLUMINA|HumanHap650Yv1.0_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt11/14/0611/15/06127Genomicunknown
ss71637307ILLUMINA|HumanHap650Yv3.0_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt04/23/0704/23/07127Genomicunknown
ss75555602ILLUMINA|ILMN_Human_1M_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt08/28/0708/29/07129Genomicunknown
ss76435059AFFY|AFFY_6_1M_SNP_A-8295921rev/BC/Tggaaaatattttaaccggagagttggattctt08/28/0708/30/07129Genomicunknown
ss79309484ILLUMINA|HumanHap300v2.0_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt04/18/0711/18/07130Genomicunknown
ss84883414KRIBB_YJKIM|KHS838248fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt12/04/0712/08/07130Genomicunknown
ss98307872ILLUMINA|HumanHap550v3.0__rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt04/20/0703/31/08130Genomicunknown
ss1115563251000GENOMES|CEU.trio.12.15.2008_2686554_chr12_17265006fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt12/17/0812/17/08130Genomicunknown
ss1132255321000GENOMES|NA19240_2008_12_16_2419519_chr12_17265006fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt12/18/0812/18/08130Genomicunknown
ss123070228ILLUMINA|HumanCNV370v1_C_rs9971637fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt04/14/0904/15/09131Genomicunknown
ss169184985COMPLETE_GENOMICS|NA19240_36_chr12_17265006fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt10/01/0910/01/09132Genomicunknown
ss2256289051000GENOMES|pilot_1_YRI_7438588_chr12_17265006fwd/A/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt04/22/1004/22/10132Genomicunknown
ss2358410661000GENOMES|pilot_1_CEU_5445695_chr12_17265006fwd/A/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt05/01/1005/01/10132Genomicunknown
ss2424172341000GENOMES|pilot_1_CHB+JPT_4302311_chr12_17265006fwd/A/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt05/01/1005/01/10132Genomicunknown
ss281292403GMI|GMI_AK_SNP_5612792fwd/A/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt12/16/1012/16/10137Genomicunknown
ss479261099ILLUMINA|HumanOmni2.5-4v1_D_kgp10293409-0_T_F_1804655046fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat01/30/1210/27/16137Genomicunknown
ss483034269ILLUMINA|HumanOmni2.5-4v1_B_SNP12-17265006-0_T_F_1619769842fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat01/30/1210/28/16137Genomicunknown
ss491465097EXOME_CHIP|.GWAS._181323_chr_12_17373739fwd/TA/Gaaaccaagatgaataagaatccaactctccggttaaaatattttcctttattcatctttt03/05/1203/05/12137Genomicunknown
ss532840780ILLUMINA|HumanOmni5-4v1_B_kgp10293409-0_T_F_1804655046fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat06/22/1208/29/15146Genomicunknown
ss658553204SSMP|12_17373739fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat12/14/1202/13/15138Genomicunknown
ss779553674ILLUMINA|HumanOmni25Exome-8v1_A_kgp10293409-0_T_F_1804655046fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/30/1307/10/15146Genomicunknown
ss780687690ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/30/1307/10/15146Genomicunknown
ss780937354ILLUMINA|HumanOmni2.5-4v1_H_kgp10293409-0_T_F_1804655046fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/30/1307/29/15146Genomicunknown
ss783361257ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/31/1306/18/15146Genomicunknown
ss825640002ILLUMINA|HumanCNV370v1_C_rs9971637-123_T_F_IFB1135702489:0fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat06/24/1311/21/14144Genomicunknown
ss835024664ILLUMINA|HumanOmni2.5-8v1_A_kgp10293409-0_T_F_1804655046fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat09/18/1307/29/15146Genomicunknown
ss989282721EVA-GONL|EVA-GONL_rs9971637fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat04/23/1404/25/14142Genomicunknown
ss1078280634JMKIDD_LAB|HGDP_WGS_chr12_17373739fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat07/10/1407/12/14142Genomicunknown
ss13440852221000GENOMES|PHASE3_V1_57008307fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat08/16/1408/16/14142Genomicunknown
ss1397627200HAMMER_LAB|HAMMER_LAB_rs9971637fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat09/30/1409/30/14146Genomicunknown
ss1576137643EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9971637fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat02/19/1502/19/15144Genomicunknown
ss1598954722EVA_DECODE|EVA_DECODE_12_17265006_134143_rs9971637fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat03/02/1503/04/15144Genomicunknown
ss1628104350EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_17373739_31538488fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat03/04/1503/04/15144Genomicunknown
ss1671098383EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_17373739_31538488fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat03/04/1503/04/15144Genomicunknown
ss1713310398EVA_SVP|EVA_SVP_1004765fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat03/12/1503/12/15144Genomicunknown
ss1752058277ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/27/1506/09/15146Genomicunknown
ss1807139949HAMMER_LAB|Hsieh_6160890fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat07/15/1507/16/15146Genomicunknown
ss1917871382ILLUMINA|HumanExome-12v1-1_B_exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat10/16/1510/16/15147Genomicunknown
ss1932649105WEILL_CORNELL_DGM|SNV:chr12:17373739fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat10/16/1510/17/15147Genomicunknown
ss1946332839ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat10/29/1510/29/15147Genomicunknown
ss1959417301ILLUMINA|exm-rs9971637-131_T_F_1990495194fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat11/13/1511/13/15147Genomicunknown
ss1967533940GENOMED|rs9971637fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat02/16/1602/16/16147Genomicunknown
ss2027069581JJLAB|SNP7572136fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat08/29/1608/30/16149Genomicunknown
ss2095031865ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs9971637-138_T_F_2264366504fwd/TA/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat09/27/1609/27/16150Genomicunknown
ss2155395367USC_VALOUEV|NC_000012.11:g.17373739G>Afwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat11/17/1611/17/16150Genomicunknown
ss2188127478HUMAN_LONGEVITY|HLI-12-17220805-G-Afwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat11/18/1611/18/16150Genomicunknown
ss2351777391TOPMED|12_17373739_G/Afwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat11/19/1611/19/16150Genomicunknown
ss2632930918ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp10293409-0_T_F_18046550fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat02/02/1702/02/17151Genomicunknown
ss2699723375GRF|rs9971637fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat02/13/1702/13/17151Genomicunknown
ss2907835933GNOMAD|rs9971637fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/22/1705/22/17151Genomicunknown
ss2984969317AFFY|Axiom_PsorMich_Affx-7301545fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/24/1705/24/17151Genomicunknown
ss3009279322SWEGEN|NC_000012.11:g.17373739G>Afwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat05/30/1705/30/17151Genomicunknown
ss3021410486ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs9971637-131_T_F_1990495194fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat06/28/1706/28/17151Genomicunknown
ss3164091904TOPMED|TOPMed_freeze_5?chr12:17,220,805-01fwd/A/Gaagatgaataagaatccaactctccggttaaaatattttcctttattcat09/30/1709/30/17151Genomicunknown
ss3164091905TOPMED|TOPMed_freeze_5?chr12:17,220,805-02fwd/G/Taagatgaataagaatccaactctccggttaaaatattttcctttattcat09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9971637|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 CAGCAGCAGA ACATTTTTTC ATGTGTTGAT TAAAGACGAC TTGACGTTGC CTATAAAGGG
 ATCTTGTACT TATAAGTTCC TTGGAAATAG TTAAATGCAA TATACCGAAA AATCATCAAC
 TACAAATGTC TATTAATTCT TGGCCTTGAT TAACACATGA AACTTACTGT AATGAGGAAA
 CACATGCATA TTAAATGAGC TGGTATTTTT AAAGTATGGA CAATGCTAAT AGCTATGCCA
 AAATCCTTTG AAATAAATGT ATTTTTATTT ATAAATACAT TTATAAATGT ATTTCAGTAA
 AATACCATTA GATAGAAAAT TCGATACTAT ATCTCAATTT AAGTCAGGAT AAAATTTCAA
 GCAATAAAAA TGTTCACCAT TTACCTCAAA GATCAAGGAA AAAATATTTG GAATCTTTTG
 AGAATTTCAA GTCTATATTC ATGATGCAAA CTCCATTTCT CTGGCTCAGA AAACCAAGAT
 GAATAAGAAT CCAACTCTCC
 D
 GGTTAAAATA TTTTCCTTTA TTCATCTTTT ATGGCCATTT ATCTCTATAT ACCTACTTTG
 CAGGGATCTT ATAAAGATGT GTGGAATAGT TTGTTCTAAA GTGCTTAAAC TTGGAAAAGT
 ATGCTATAAG AGCAAATTAT TATTATCTTT ATTACTGTAA CAAACACAGG GGATAATTAT
 TTTTGAGTCA AAAAGAACAA GGCAAAGTGT GATTCTGCAT CAAAAATGAC ATGGTGGGTG
 GTAAATGGTT TTCACTTCTA TAAAGAGCAA TACAATAATT TTCACATTGC ACTGCTTATA
 ACATTTATTC TCTGAAGGCC TTGCTTAATG TGCTCACTTT CAAAATTTCT ACGATCTTTT
 CTTCCCCCAT AAATTTGCTA ACTTTTGTCC TTTGCAACAC TGATGTAGGC TTAGCAAATT
 TTTTTAAAGG AGTTATTTTT TCTTGCCTAT AAGAGAATAT AAAGAACCTG AGACTTCAAG
 CATAAGAATT TACTATATTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714
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/G
G/G
HWPA
G
ss1344085222EAS 1008AF 0.096200000.90380001
EUR 1006AF 0.070600000.92939997
AFR 1322AF 0.375900000.62409997
AMR 694AF 0.066300000.93369997
SAS 978AF 0.058300000.94169998
ss13813258HapMap-CEUEuropean 224IG 0.089285720.910714271.000000000.044642860.95535713
HapMap-HCBAsian 86IG 0.116279070.883720931.000000000.058139540.94186044
HapMap-JPTAsian 172IG0.011627910.162790700.825581370.751830000.093023260.90697676
HapMap-YRISub-Saharan African 226IG0.132743360.530973430.336283180.254213000.398230080.60176992
HAPMAP-ASW 96IG0.125000000.520833310.354166660.527089000.385416660.61458331
HAPMAP-CHBAsian 80IG 0.050000000.949999991.000000000.025000000.97500002
HAPMAP-CHD 170IG 0.176470590.823529420.751830000.088235300.91176468
HAPMAP-GIH 176IG0.011363640.102272730.886363630.250592000.062500000.93750000
HAPMAP-LWK 178IG0.078651690.370786520.550561790.751830000.264044940.73595506
HAPMAP-MEX 96IG 0.083333340.916666691.000000000.041666670.95833331
HAPMAP-MKK 284IG0.084507040.401408460.514084521.000000000.285211270.71478873
HAPMAP-TSI 176IG0.011363640.079545450.909090940.099721000.051136360.94886363
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss169184985YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss225628905pilot_1_YRI_low_coverage_panel 118AF 0.364406790.63559324
ss23303025AFD_EUR_PANELEuropean 48IG 0.083333340.916666691.000000000.041666670.95833331
AFD_AFR_PANELAfrican American 46IG0.086956520.565217380.347826090.317310000.369565220.63043481
AFD_CHN_PANELAsian 48IG 0.083333340.916666691.000000000.041666670.95833331
ss235841066pilot_1_CEU_low_coverage_panel 120AF 0.058333330.94166666
ss242417234pilot_1_CHB+JPT_low_coverage_panel 120AF 0.066666670.93333334

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.260+/-0.2500000

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement