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Reference SNP (refSNP) Cluster Report: rs447529                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:80/144
Map to Genome Build:107/Weight
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (REV)
Allele Origin:G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:G=0.1502/752
MAF Source:1000 Genomes
HGVS Names
  • NC_000016.10:g.23622102C>G
  • NC_000016.9:g.23633423C>G
  • NG_007406.1:g.24256G>C
  • NM_024675.3:c.2997-624G>C
  • XM_005255578.1:c.2997-624G>C
  • XM_011545946.1:c.3003-624G>C
  • XM_011545947.1:c.3003-624G>C
  • XM_011545948.1:c.2112-624G>C
  • XR_243309.1:n.3197-624G>C
  • XR_950851.1:n.3793-624G>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 ss78764013 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs447529 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
ss599348SC_JCM|AC009043.6_142698fwd/BC/Gtttcaattacatttcattgttattattcattatcttctaaaaatggagggcagggaactt07/12/0010/10/0380Genomicunknown
ss706096SC_JCM|AC008870.5_16180fwd/BC/Gtttcaattacatttcattgttattattcattatcttctaaaaatggagggcagggaactt07/27/0010/10/0385Genomicunknown
ss912857KWOK|OVLP-000804-206955byFreqfwd/BC/Gtttcaattacatttcattgttattattcattatcttctaaaaatggagggcagggaactt09/01/0004/07/0486Genomic99 %
ss2466571SC_JCM|AC009043.8_87238fwd/BC/Gtttcaattacatttcattgttattattcattatcttctaaaaatggagggcagggaactt11/03/0010/10/0392Genomicunknown
ss69341617PERLEGEN|PGP03726997byFreqrev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa01/30/0708/14/07127Genomicunknown
ss78764013HGSV|Cor18507_SNV_20070510.chr16_23540924byFreqrev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa10/19/0709/05/14129Genomicunknown
ss118220997ILLUMINA-UK|NA18507_000035314_NCBI36.1_chr16_23540924rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa01/20/0901/21/09130Genomic99 %
ss201554733BUSHMAN|BUSHMAN-chr16-23540923byFreqrev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa02/16/1009/05/14132Genomicunknown
ss207682643BCM-HGSC-SUB|BCM_CMT_1011-2859914rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa03/15/1003/19/10132Genomicunknown
ss2271907661000GENOMES|pilot_1_YRI_9000449_chr16_23540924rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa04/22/1004/22/10132Genomicunknown
ss2369881871000GENOMES|pilot_1_CEU_6592816_chr16_23540924rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa05/01/1005/01/10132Genomicunknown
ss2433358181000GENOMES|pilot_1_CHB+JPT_5220895_chr16_23540924rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa05/01/1005/01/10132Genomicunknown
ss282475754GMI|GMI_AK_SNP_6796155rev/C/Gaagttccctgccctccatttttagaagataatgaataataacaatgaaatgtaattgaaa12/16/1012/16/10137Genomicunknown
ss469105215MTISCHKOWITZ|NM_024675.3:c.2997-624C>Gfwd/C/Gtttcaattacatttcattgttattattcattatcttctaaaaatggagggcagggaactt08/05/1108/19/11135Genomicunknown
ss564840934TISHKOFF|snp_chr16_23633423rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat11/22/1211/23/12138Genomicunknown
ss660592714SSMP|16_23633423rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat12/14/1202/13/15138Genomicunknown
ss992382702EVA-GONL|EVA-GONL_rs447529rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat04/23/1404/30/14142Genomicunknown
ss1080555146JMKIDD_LAB|HGDP_WGS_chr16_23633423rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat07/10/1407/12/14142Genomicunknown
ss13557789281000GENOMES|PHASE3_V1_69200832rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat08/16/1408/16/14142Genomicunknown
ss1427808174DDI|DDI_rs447529rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat11/04/1411/04/14144Genomicunknown
ss1577875743EVA_GENOME_DK|EVA_GENOME_DK_snv_rs447529rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat02/19/1502/19/15144Genomicunknown
ss1634205445EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_16_23633423_38259741rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat03/04/1503/04/15144Genomicunknown
ss1677199478EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_16_23633423_38259741rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat03/04/1503/04/15144Genomicunknown
ss1696417048EVA_DECODE|EVA_DECODE_16_23540924_211336_rs447529rev/C/Gccctgccctccatttttagaagataatgaataataacaatgaaatgtaat03/02/1503/04/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs447529|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=144
 GCCACATAGC AGGGCCCCAT CTTTACAAAA AATTTAAAAA TTAGCTGGGT GTGGCAGAGC
 ATGCCTTGTG GTCCCAGCTA CTAGGGAGTC TGAGGTGGAA GGATCACTTG AGCTCAGGAG
 TTCAAGGGTG CAGTGAGCTG TGATCACGCC ACCACACTCC ATCTTGGGCA GCAGAGCGAG
 ACCTAATCTT AAACACACAC ACACACACAC ACACAAATAT TTTTAAAAAT ATAGAAATAC
 CTTAAGGTCC TAGACCCTTT CCTCGTTCCA CACACTTGTG TCCATTGCTT CACTGACCAT
 CTTGGTGCTG ACTACTTGCA AACATACATT TCTACCTCTG AGCTCTTTCT TGAGCTCTAG
 ACCTGCAGGC CTATTTATTA GACGTATTGG GGACACCTTA AATTCAAAAT GTTGCAAACT
 GAACTTACAG CATCTTCTCT ATTATATACT CATTACACTT TATTTTTATT TTTCAATTAC
 ATTTCATTGT TATTATTCAT
 S
 TATCTTCTAA AAATGGAGGG CAGGGAACTT TGGCTTATTT ATTCATGATC TGTTGCAGTA
 ATCTAGGCAA GAGATGATAA TTGTTTGCTT AAATTAGGGG TATGTTAGTG GAGATGGGAA
 GAAGCAGACA GATTTCTGAG AGATGAGAAG ATAAAATTAC TGGGACTTGG TGATTGACTA
 GATTGAGAGG AAGGAGAGAA TATCAACATG GTAGGGTTGG TCACTTGAGT GGTGACCAAG
 CTCGAAATGT GGGTATTATC CTTGTCTCCT TCCCCCCAGT CTAGGTGGTC ACTTGAGTGG
 TGACCAACCC TGAAACTTGG ACATTAGATG GTGATGCAAT TCATTGAGAT AGGAATGCAG
 AAAGAAACAA AAGGTTTATA GAAAAAGTTA ACAAGTTTAA TTTTGAATAT AATGAATTCG
 AGGTGCTTGC AGCATATCTA GGTAGATATT ATGAAAGTAA TATATGTTCA TTGTAGAAAG
 TTTAGTATAC ACGTTTTCTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016.8 AC008870 AC009043 AC009043.8
dbSNP Blast Analysis
OMIM
114480

  Population Diversity (in rs orientation) Note: rs447529 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss118220997YRI 2IG 1.000 0.500 0.500
ss201554733BUSHMAN_POP2 2IG 1.000 0.500 0.500
BANTU 2IG 1.000 0.500 0.500
ss227190766pilot_1_YRI_low_coverage_panel 118AF 0.237 0.763
ss236988187pilot_1_CEU_low_coverage_panel 120AF 0.108 0.892
ss243335818pilot_1_CHB+JPT_low_coverage_panel 120AF 0.142 0.858
ss78764013HapMap-CEUEuropean 118IG 0.153 0.847 1.000 0.076 0.924
HapMap-HCBAsian 90IG 0.289 0.711 0.584 0.144 0.856
HapMap-JPTAsian 86IG 0.023 0.209 0.767 0.752 0.128 0.872
HapMap-YRISub-Saharan African 118IG 0.051 0.390 0.559 0.752 0.246 0.754
ENSEMBL_Watson 2IG 1.000 1.000
ENSEMBL_Venter 2IG 1.000 1.000
Concordant GenotypeTotal SampleC/CC/GG/G
ss11822099711
ss20155473322
ss78764013486156637
RefSNP Genotype SummaryTotal IndividualC/CC/GG/G
rs447529530156667
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
157ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12144CEPH1334.10r27_ch16_CEU_imsut-riken:genotyping
172ss78764013C/CCSHL-HAPMAPHapMap-CEUNA07056CEPH1340.12r27_ch16_CEU_imsut-riken:genotyping
188ss78764013C/CCSHL-HAPMAPHapMap-CEUNA10851CEPH1344.01r27_ch16_CEU_imsut-riken:genotyping
200ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12057CEPH1344.13r27_ch16_CEU_imsut-riken:genotyping
214ss78764013C/CCSHL-HAPMAPHapMap-CEUNA07345CEPH1345.13r27_ch16_CEU_imsut-riken:genotyping
215ss78764013C/CCSHL-HAPMAPHapMap-CEUNA10857CEPH1346.01r27_ch16_CEU_imsut-riken:genotyping
252ss78764013C/CCSHL-HAPMAPHapMap-CEUNA11839CEPH1349.13r27_ch16_CEU_imsut-riken:genotyping
254ss78764013C/CCSHL-HAPMAPHapMap-CEUNA10856CEPH1350.01r27_ch16_CEU_imsut-riken:genotyping
263ss78764013C/CCSHL-HAPMAPHapMap-CEUNA11830CEPH1350.11r27_ch16_CEU_imsut-riken:genotyping
265ss78764013C/CCSHL-HAPMAPHapMap-CEUNA11832CEPH1350.13r27_ch16_CEU_imsut-riken:genotyping
399ss78764013C/GCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01r27_ch16_CEU_imsut-riken:genotyping
410ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12155CEPH1408.12r27_ch16_CEU_imsut-riken:genotyping
411ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12156CEPH1408.13r27_ch16_CEU_imsut-riken:genotyping
429ss78764013C/CCSHL-HAPMAPHapMap-CEUNA10835CEPH1416.01r27_ch16_CEU_imsut-riken:genotyping
438ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12248CEPH1416.11r27_ch16_CEU_imsut-riken:genotyping
457ss78764013C/CCSHL-HAPMAPHapMap-CEUNA10839CEPH1420.02r27_ch16_CEU_imsut-riken:genotyping
466ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12005CEPH1420.11r27_ch16_CEU_imsut-riken:genotyping
524ss78764013C/GCSHL-HAPMAPHapMap-CEUNA12740CEPH1444.02r27_ch16_CEU_imsut-riken:genotyping
548ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12763CEPH1447.12r27_ch16_CEU_imsut-riken:genotyping
578ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12814CEPH1454.14r27_ch16_CEU_imsut-riken:genotyping
619ss78764013C/CCSHL-HAPMAPHapMap-CEUNA12873CEPH1459.10r27_ch16_CEU_imsut-riken:genotyping
5141ss78764013C/CCSHL-HAPMAPHapMap-YRINA19098YOR105.03r27_ch16_YRI_imsut-riken:genotyping
5145ss78764013C/CCSHL-HAPMAPHapMap-YRINA19240YOR117.01r27_ch16_YRI_imsut-riken:genotyping
5155ss78764013C/CCSHL-HAPMAPHapMap-HCBNA18537CH18537r27_ch16_CHB_imsut-riken:genotyping
5190ss78764013C/GCSHL-HAPMAPHapMap-HCBNA18636CH18636r27_ch16_CHB_imsut-riken:genotyping
5194ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18940JA18940r27_ch16_JPT_imsut-riken:genotyping
5201ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18948JA18948r27_ch16_JPT_imsut-riken:genotyping
5205ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18953JA18953r27_ch16_JPT_imsut-riken:genotyping
5224ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18974JA18974r27_ch16_JPT_imsut-riken:genotyping
5227ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18991JA18991r27_ch16_JPT_imsut-riken:genotyping
5234ss78764013C/CCSHL-HAPMAPHapMap-JPTNA18999JA18999r27_ch16_JPT_imsut-riken:genotyping
5236ss78764013C/CCSHL-HAPMAPHapMap-JPTNA19003JA19003r27_ch16_JPT_imsut-riken:genotyping
5249ss78764013C/GCSHL-HAPMAPHapMap-YRINA18516YOR013.03r27_ch16_YRI_imsut-riken:genotyping
5270ss78764013G/GCSHL-HAPMAPHapMap-YRINA19092YOR040.03r27_ch16_YRI_imsut-riken:genotyping
5272ss78764013C/CCSHL-HAPMAPHapMap-YRINA19102YOR042.02r27_ch16_YRI_imsut-riken:genotyping
5276ss78764013C/CCSHL-HAPMAPHapMap-YRINA19138YOR043.03r27_ch16_YRI_imsut-riken:genotyping
5277ss78764013C/GCSHL-HAPMAPHapMap-YRINA19202YOR045.01r27_ch16_YRI_imsut-riken:genotyping
5279ss78764013C/GCSHL-HAPMAPHapMap-YRINA19200YOR045.03r27_ch16_YRI_imsut-riken:genotyping
5280ss78764013C/CCSHL-HAPMAPHapMap-YRINA19173YOR047.01r27_ch16_YRI_imsut-riken:genotyping
5282ss78764013C/CCSHL-HAPMAPHapMap-YRINA19171YOR047.03r27_ch16_YRI_imsut-riken:genotyping
5297ss78764013C/CCSHL-HAPMAPHapMap-YRINA19223YOR058.03r27_ch16_YRI_imsut-riken:genotyping
Genotype data submitted for530 samples from530 individualsIndividual with multiple genotypes submission:0

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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