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Reference SNP (refSNP) Cluster Report: rs45450798                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1196/599 (1000 Genomes)
G=0.1205/15131 (TOPMED)
HGVS Names
  • CM000680.2:g.12792941C>G
  • NC_000018.10:g.12792941C>G
  • NC_000018.9:g.12792940C>G
  • NG_029116.1:g.96395G>C
  • NM_001207013.1:c.1211+1443G>C
  • NM_001308287.1:c.*1337G>C
  • NM_002828.3:c.*1337G>C
  • NM_080422.2:c.1142+1443G>C
  • NM_080423.2:c.1041-7097G>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 ss282910577 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45450798 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
ss69357940JDRF_WT_DIL|DIL13098fwd/C/Gttgtctctttatatgccacataagatttctcataaggcttaagtattttaaagggggcag03/02/0703/02/07127Genomicunknown
ss82971011HGSV|Cor19240_SNV_20070510.chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa11/30/0712/04/07130Genomicunknown
ss90720006BCMHGSC_JDW|JWB-2942038rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa02/26/0802/29/08130Genomicunknown
ss1101844331000GENOMES|CEU.trio.12.15.2008_3471600_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa12/17/0812/17/08130Genomicunknown
ss1140963221000GENOMES|NA19240_2008_12_16_3128694_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa12/18/0812/18/08130Genomicunknown
ss120252831WTCCC|NT_010859.14_12782940_CEPHrev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa04/10/0904/10/09131Genomicunknown
ss137273484ENSEMBL|ENSSNP5674828rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa05/15/0905/16/09131Genomicunknown
ss167839388COMPLETE_GENOMICS|NA07022_36_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa09/30/0909/30/09132Genomicunknown
ss169172321COMPLETE_GENOMICS|NA19240_36_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa10/01/0910/01/09132Genomicunknown
ss2277519131000GENOMES|pilot_1_YRI_9561596_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa04/22/1004/22/10132Genomicunknown
ss230385099WTCCC|NT_010859.14_12782940_CDrev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa04/30/1004/30/10132Genomicunknown
ss2373897281000GENOMES|pilot_1_CEU_6994357_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa05/01/1005/01/10132Genomicunknown
ss2436560241000GENOMES|pilot_1_CHB+JPT_5541101_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa05/01/1005/01/10132Genomicunknown
ss282910577GMI|GMI_AK_SNP_7230996rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa12/16/1012/16/10137Genomicunknown
ss292133078PJP|SNP_1639436_chr18_12782940rev/C/Gctgccccctttaaaatacttaagccttatgagaaatcttatgtggcatataaagagacaa01/21/1101/21/11134Genomicunknown
ss565520277TISHKOFF|snp_chr18_12792940rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga11/22/1211/23/12138Genomicunknown
ss661339348SSMP|18_12792940rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga12/14/1202/14/15138Genomicunknown
ss993512299EVA-GONL|EVA-GONL_rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga04/23/1404/30/14142Genomicunknown
ss1081345343JMKIDD_LAB|HGDP_WGS_chr18_12792940rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga07/10/1407/12/14142Genomicunknown
ss13601994321000GENOMES|PHASE3_V1_73799264rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga08/16/1408/16/14142Genomicunknown
ss1578319825EVA_GENOME_DK|EVA_GENOME_DK_snv_rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga02/19/1502/20/15144Genomicunknown
ss1636445927EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_18_12792940_40726920rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga03/04/1503/04/15144Genomicunknown
ss1679439960EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_18_12792940_40726920rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga03/04/1503/04/15144Genomicunknown
ss1697565285EVA_DECODE|EVA_DECODE_18_12782940_109272_rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga03/02/1503/04/15144Genomicunknown
ss1936984313WEILL_CORNELL_DGM|SNV:chr18:12792940rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga10/16/1510/19/15147Genomicunknown
ss2029265145JJLAB|SNP9767700rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga08/29/1608/31/16149Genomicunknown
ss2094896589ILLUMINA|Immuno_BeadChip_11419691_B_imm_18_12782940-1_B_F_1670100381rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga09/27/1609/27/16150Genomicunknown
ss2095077985ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_18_12782940-1_B_F_2310593512rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga09/27/1609/27/16150Genomicunknown
ss2095077986ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs45450798-138_T_F_2264382372rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga09/27/1609/27/16150Genomicunknown
ss2157761132USC_VALOUEV|NC_000018.9:g.12792940C>Grev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga11/17/1611/17/16150Genomicunknown
ss2219949689HUMAN_LONGEVITY|HLI-18-12792941-C-Grev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga11/18/1611/18/16150Genomicunknown
ss2385209048TOPMED|18_12792940_C/Grev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga11/19/1611/19/16150Genomicunknown
ss2629130346SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6232344rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga01/06/1701/06/17151Genomicunknown
ss2702334201GRF|rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga02/13/1702/13/17151Genomicunknown
ss2954296781GNOMAD|rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga05/23/1705/23/17151Genomicunknown
ss2985749919AFFY|Axiom_Smokesc1_Affx-14546063rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga05/24/1705/24/17151Genomicunknown
ss3016185915SWEGEN|NC_000018.9:g.12792940C>Grev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga05/30/1705/30/17151Genomicunknown
ss3028459950BIOINF_KMB_FNS_UNIBA|18.12792941C>Grev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga07/05/1707/05/17151Genomicunknown
ss3272950954TOPMED|TOPMed_freeze_5?chr18:12,792,941rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga10/01/1710/01/17151Genomicunknown
ss3351927966CSHL|rs45450798rev/C/Gccctttaaaatacttaagccttatgagaaatcttatgtggcatataaaga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45450798|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 GTAAATCCCA TTATTGATAT GTTTATTTTT CATGAAAATT TCAATGTAGT TGGGGTAGAT
 TATGATTTAG GAAGCAAAAG TAAGAAGCAG CATTTTATGA TTCATAATTT CAGTTTACTA
 GACTGAAGTT TTGAAGTAAA CACTTTTCAG TTTCTTTCTA CTTCAATAAA TAGTATGATT
 ATATGCAAAC CTTACATTGT CATTTTAACT TAATGAATAT TTTTTAAAGC AAACTGTTTA
 ATGAATTTAA CTGCTCATTT GAATGCTAGC TTTCCTCAGA TTTCAACATT CCATTCAGTG
 TTTAATTTGT CTTACTTAAA CTTGAAATTG TTGTTACAAA TTTAATTGCT AGGAGGCATG
 GATAGCATAC ATTATTATGG ATAGCATACC TTATTTCAGT GGTTTTCAAA CTATGCTCAT
 TGGATGTCCA GGTGGGTCAA GAGGTTACTT TCAACCACAG CATCTCTGCC TTGTCTCTTT
 ATATGCCACA TAAGATTTCT
 S
 CATAAGGCTT AAGTATTTTA AAGGGGGCAG TTATCATTTA AAAACAGTTT GGTCGGGCGC
 GGTGGCTCAT GCCTGTAATC CCAGCACTTT GGGAGGCTGA AGTGGGCAGA TCACCTGAGG
 TCAGGAGTTC AAGACCAGCC TGGCCAACGT GGTGAAACAC CATCTCTACT AAAAATGCAA
 AAATTAGCTG GGCATGGTGG AGGGCACCTG TAATCTCAGC TACTCAGGAG GCTGAGGTAG
 GAGAATTGCT TGAACCCAGG AGATGGAGGT TGCAGTGAGC TGAGATCACG TCACTGCACT
 CCAGCCAGGG CGACAGAGCG AGACTCCATC TCAAAAGAAA CAAACAAAAA AAACAGTTTG
 GGCCGGGTGT GGTGGCTCAC GCTTGTAATC CCAGCACTTC GGAAGGCCAA GGCGGGCGGA
 TCACGAGGTC AAGAGATGGA GACTGTCCTG GCCAACATGG TGAAATCCCT TCTTTACTAA
 AAATACAAAA ATTATCTGGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010859.14
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs45450798 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/G
HWPC
G
ss1360199432EAS 1008AF 0.191499990.80849999
EUR 1006AF 0.144100000.85589999
AFR 1322AF 0.034800000.96520001
AMR 694AF 0.062000000.93799996
SAS 978AF 0.175900000.82409996
ss137273484ENSEMBL_Watson 2IG1.00000000 0.500000000.50000000
ss167839388CEUEuropean 2IG1.00000000 0.500000000.50000000
ss169172321YRISub-Saharan African 2IG1.00000000 0.500000000.50000000
ss227751913pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss237389728pilot_1_CEU_low_coverage_panel 120AF 0.158333330.84166664
ss243656024pilot_1_CHB+JPT_low_coverage_panel 120AF 0.091666670.90833336

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.211+/-0.2470000

  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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