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Reference SNP (refSNP) Cluster Report: rs45518335                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0004/50 (ExAC)
T=0.0018/9 (1000 Genomes)
T=0.0020/26 (GO-ESP)
T=0.0016/196 (TOPMED)
HGVS Names
  • CM000670.2:g.18400686C>T
  • NC_000008.10:g.18258196C>T
  • NC_000008.11:g.18400686C>T
  • NG_012246.1:g.14442C>T
  • NM_000015.2:c.683C>T
  • NP_000006.2:p.Pro228Leu
  • XP_016868427.1:p.Pro228Leu
Links , Linkout
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 ss70456620 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45518335 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
ss70456620EGP_SNPS|NAT2-010753fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat04/19/0704/19/07127Genomicunknown
ss1150751371000GENOMES|NA19240_2008_12_16_1752288_chr8_18302476fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat12/19/0812/19/08130Genomicunknown
ss159716516SEATTLESEQ|NAT2-18302476fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat07/10/0907/10/09131Genomicunknown
ss161103333ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP8-18302476-0_B_F_1588085895fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat08/04/0910/05/09131Genomicunknown
ss164094708COMPLETE_GENOMICS|NA19240_36_chr8_18302476fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat09/29/0909/29/09132Genomicunknown
ss3347250161000GENOMES|20100804_snps_6368557_chr8_18258196fwd/C/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat03/22/1103/22/11134Genomicunknown
ss342253618NHLBI-ESP|ESP2500-chr8-18258196byFreqfwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat03/25/1109/05/14134Genomicunknown
ss479344310ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp22852147-0_B_F_1862705090fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc01/30/1208/28/15146Genomicunknown
ss4909607281000GENOMES|20110521_exome_468526_chr8_18258196fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat02/10/1202/21/12137Genomicunknown
ss491410769EXOME_CHIP|nonsyn_126995_chr_8_18258196fwd/BC/Ttaaccacatcattttgttccttgcagacccagaaggggtttactgtttggtgggcttcat03/05/1203/05/12137Genomicunknown
ss535195084ILLUMINA|HumanOmni5-4v1_B_kgp28948097-0_B_F_1876468489fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc06/22/1208/29/15146Genomicunknown
ss780867833ILLUMINA|HumanOmni25Exome-8v1_A_exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/30/1307/10/15146Genomicunknown
ss783552764ILLUMINA|HumanOmniExpressExome-8v1_A_exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/31/1306/19/15146Genomicunknown
ss13288539201000GENOMES|PHASE3_V1_41165004fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc08/16/1408/16/14142Genomicunknown
ss1689107914EVA_EXAC|EVA_EXAC_4197335fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc03/04/1503/04/15144Genomicunknown
ss1752722194ILLUMINA|OmniExpressExome-8v1-1_B_exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/27/1506/09/15146Genomicunknown
ss1917826212ILLUMINA|HumanExome-12v1-1_B_exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc10/16/1510/16/15147Genomicunknown
ss1946231119ILLUMINA|HumanCoreExome-12v1-0_C_exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc10/29/1510/29/15147Genomicunknown
ss1959092414ILLUMINA|exm685692-0_B_F_1922990587fwd/BC/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc11/13/1511/13/15147Genomicunknown
ss2301164568HUMAN_LONGEVITY|HLI-8-18400686-C-Tfwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc11/18/1611/18/16150Genomicunknown
ss2470822165TOPMED|8_18258196_C/Tfwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc11/20/1611/20/16150Genomicunknown
ss2634717912ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp28948097-0_B_F_18764684fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc02/02/1702/02/17151Genomicunknown
ss2711131679ILLUMINA|Consortium-OncoArray_15047405_A_rs45518335-131_B_F_1889509012fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc03/22/1703/22/17151Genomicunknown
ss2737016756GNOMAD|exomes_rs45518335fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/17/1705/17/17151Genomicunknown
ss2748005964GNOMAD|coding_rs45518335fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/17/1705/17/17151Genomicunknown
ss2863932622GNOMAD|rs45518335fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/19/1705/19/17151Genomicunknown
ss2985432621AFFY|Axiom_PsorMich_Affx-31859132fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc05/24/1705/24/17151Genomicunknown
ss3022824461ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685692-0_B_F_1922990587fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc06/28/1706/28/17151Genomicunknown
ss3555514783TOPMED|TOPMed_freeze_5?chr8:18,400,686fwd/C/Tacatcattttgttccttgcagacccagaaggggtttactgtttggtgggc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45518335|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AGCCTCAGGT GCCTTGCATT TTCTGCTTGA CAGAAGAGAG AGGAATCTGG TACCTGGACC
 AAATCAGGAG AGAGCAGTAT ATTACAAACA AAGAATTTCT TAATTCTCAT CTCCTGCCAA
 AGAAGAAACA CCAAAAAATA TACTTATTTA CGCTTGAACC TCGAACAATT GAAGATTTTG
 AGTCTATGAA TACATACCTG CAGACGTCTC CAACATCTTC ATTTATAACC ACATCATTTT
 GTTCCTTGCA GACCC
 Y
 AGAAGGGGTT TACTGTTTGG TGGGCTTCAT CCTCACCTAT AGAAAATTCA ATTATAAAGA
 CAATACAGAT CTGGTCGAGT TTAAAACTCT CACTGAGGAA GAGGTTGAAG AAGTGCTGAA
 AAATATATTT AAGATTTCCT TGGGGAGAAA TCTCGTGCCC AAACCTGGTG ATGGATCCCT
 TACTATTTAG AATAAGGAAC AAAATAAACC CTTGTGTATG TATCACCCAA CTCACTAATT
 ATCAACTTAT GTGCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1328853920EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.993200000.00680000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss164094708YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1689107914ExAc_Aggregated_Populations121404AF 0.999588130.00041185
ss342253618ESP_Cohort_Populations 4464GF0.996863780.00313620 1.000000000.998431920.00156810
ss70456620PDR90-PANEL 178AF 0.994382020.00561798

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.001+/-0.0200000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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