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Reference SNP (refSNP) Cluster Report: rs34442879                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.0108/1288 (ExAC)
T=0.0042/21 (1000 Genomes)
T=0.0075/98 (GO-ESP)
T=0.0064/809 (TOPMED)
HGVS Names
  • CM000681.2:g.41414125C>T
  • NC_000019.10:g.41414125C>T
  • NC_000019.9:g.41920030C>T
  • NG_013004.1:g.21337C>T
  • NM_000709.3:c.452C>T
  • NM_001164783.1:c.452C>T
  • NP_000700.1:p.Thr151Met
  • NP_001158255.1:p.Thr151Met
  • XP_005259183.1:p.Thr151Met
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 ss48420189 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34442879 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
ss48420189APPLERA_GI|hCV25600744byFreqfwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc09/28/0511/03/06126Genomicunknown
ss69228637PERLEGEN|PGP17792486byFreqfwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc01/30/0703/31/08127Genomicunknown
ss1113920801000GENOMES|CEU.trio.12.15.2008_3619892_chr19_46611870fwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc12/17/0812/17/08130Genomicunknown
ss159739889SEATTLESEQ|BCKDHA-46611870fwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc07/10/0907/10/09131Genomicunknown
ss161063827ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP19-46611870-0_T_R_1588134942rev/TA/Ggcctcccggtactggccaaacaccaggtcctgttgtccagggcggcggcactccccacgt08/04/0910/05/09131Genomicunknown
ss208462082BCM-HGSC-SUB|BCM_CMT_1011-3111564fwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc03/15/1003/19/10132Genomicunknown
ss3404700531000GENOMES|20100804_snps_12113594_chr19_41920030fwd/C/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc03/22/1103/22/11134Genomicunknown
ss342499321NHLBI-ESP|ESP2500-chr19-41920030byFreqfwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc03/25/1109/05/14134Genomicunknown
ss479203469ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp142357-0_T_R_1816150356fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg01/30/1208/28/15146Genomicunknown
ss4911598801000GENOMES|20110521_exome_667678_chr19_41920030fwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc02/10/1202/22/12137Genomicunknown
ss491547816EXOME_CHIP|nonsyn_264042_chr_19_41920030fwd/BC/Tacgtggggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgggaggc03/05/1203/06/12137Genomicunknown
ss491767963CLINSEQ_SNP|SNV-chr19-46611870byFreqfwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/06/1209/05/14137Genomicunknown
ss533800912ILLUMINA|HumanOmni5-4v1_B_kgp142357-0_T_R_1816150356fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg06/22/1208/29/15146Genomicunknown
ss780746129ILLUMINA|HumanOmni25Exome-8v1_A_exm1471147-0_T_R_1923255804fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/30/1307/10/15146Genomicunknown
ss783423839ILLUMINA|HumanOmniExpressExome-8v1_A_exm1471147-0_T_R_1923255804fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/31/1306/19/15146Genomicunknown
ss994312292EVA-GONL|EVA-GONL_rs34442879fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg04/23/1405/01/14142Genomicunknown
ss13632148281000GENOMES|PHASE3_V1_76940406fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg08/16/1408/16/14142Genomicunknown
ss1578644633EVA_GENOME_DK|EVA_GENOME_DK_snv_rs34442879fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg02/19/1502/20/15144Genomicunknown
ss1584117771EVA_FINRISK|EVA_FINRISK_rs34442879fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg02/27/1502/27/15144Genomicunknown
ss1637992920EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_41920030_42437716fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/04/1503/04/15144Genomicunknown
ss1680986953EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_41920030_42437716fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/04/1503/04/15144Genomicunknown
ss1693622933EVA_EXAC|EVA_EXAC_9058179fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/04/1503/04/15144Genomicunknown
ss1698366114EVA_DECODE|EVA_DECODE_19_46611870_306919_rs34442879fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/02/1503/05/15144Genomicunknown
ss1711514409EVA_MGP|EVA_XIMO_630169fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg03/09/1503/09/15144Genomicunknown
ss1752286081ILLUMINA|OmniExpressExome-8v1-1_B_exm1471147-0_T_R_2060136738fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/27/1506/09/15146Genomicunknown
ss1917937896ILLUMINA|HumanExome-12v1-1_B_exm1471147-0_T_R_2060136738fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg10/16/1510/16/15147Genomicunknown
ss1937806032WEILL_CORNELL_DGM|SNV:chr19:41920030fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg10/16/1510/19/15147Genomicunknown
ss1946536195ILLUMINA|HumanCoreExome-12v1-0_C_exm1471147-0_T_R_2060136738fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg10/29/1510/29/15147Genomicunknown
ss1959865723ILLUMINA|exm1471147-0_T_R_1923255804fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg11/13/1511/13/15147Genomicunknown
ss2029682442JJLAB|SNP10184997fwd/BC/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg08/29/1608/31/16149Genomicunknown
ss2225852129HUMAN_LONGEVITY|HLI-19-41414125-C-Tfwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg11/18/1611/18/16150Genomicunknown
ss2391586427TOPMED|19_41920030_C/Tfwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg11/19/1611/19/16150Genomicunknown
ss2744026768GNOMAD|exomes_rs34442879fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/17/1705/17/17151Genomicunknown
ss2750197946GNOMAD|coding_rs34442879fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/17/1705/17/17151Genomicunknown
ss2963012676GNOMAD|rs34442879fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/23/1705/23/17151Genomicunknown
ss2985142703AFFY|Axiom_PsorMich_Affx-15970636fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/24/1705/24/17151Genomicunknown
ss3017494385SWEGEN|NC_000019.9:g.41920030C>Tfwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg05/30/1705/30/17151Genomicunknown
ss3021907488ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1471147-0_T_R_1923255804fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg06/28/1706/28/17151Genomicunknown
ss3293619288TOPMED|TOPMed_freeze_5?chr19:41,414,125fwd/C/Tgggagtgccgccgccctggacaacaggacctggtgtttggccagtaccgg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34442879|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTTCCTTTGG GCTTCTATCA CAGCAACTCG ATCCCTCTGG CAGTTCTAAG CAGTCTGGCA
 GCGTCTTCTT AAAGGCAGGA ACCCCAGCAT GGCCTGGCCC AGGACTGGCC TTCAGGAGGA
 CTGTGAATTC ATGGAGGTGT TGGAAGCTGG GCAGGATTTG GATGGCTCTC TGTCATTGCC
 CAGCATAACC AATTGTGGGA CCCCGGTCCC CTCTCCACCC CCAGGGCCGG ATCTCCTTCT
 ACATGACCAA CTATGGTGAG GAGGGCACGC ACGTGGGGAG TGCCGCCGCC CTGGACAACA
 Y
 GGACCTGGTG TTTGGCCAGT ACCGGGAGGC AGGTACGTCT GTCCGTGGTT TGGCCCTGTG
 GTCCCCATTG AAGTGTACAC TTTAGTTTTT CTGAGTGTTC TTCCAGGAGC AGCATAGTGC
 CAGGAAGGTC TAAGGAGCTG GAAGAAGAGC TTTCCAAGCA AGAAAGAGAC AAGCCAGGGT
 CAGGACTCTG GAGGGGGCAG TCTTCCCACT CTGAAGGCCA GAAAGTGTAG TGGCTCAGGG
 TCTGTGCTCT TAACCCTTTG TTACCAGTTG TCAGGTTTTG GGCAAGTCAC TTCCCTTCTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000019.8
dbSNP Blast Analysis
3D structure mapping
NP_000700  NP_001158255  

  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
ss1363214828EAS 1008AF 0.999000010.00100000
EUR 1006AF 0.986100020.01390000
AFR 1322AF 1.00000000
AMR 694AF 0.994199990.00580000
SAS 978AF 0.998000030.00200000
ss1693622933ExAc_Aggregated_Populations121404AF 0.989374340.01062568
ss342499321ESP_Cohort_Populations 4548GF0.985488120.01451187 0.751830000.992744090.00725594
ss48420189AGI_ASP populationmultiple 78IG0.948717950.05128205 1.000000000.974358980.02564103
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss491767963CSAgilent 785GF0.981999990.01800000 1.000000000.991000000.00900000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.021+/-0.1010000

  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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