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Reference SNP (refSNP) Cluster Report: rs35080474                 ** With Likely benign 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
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:A:germline
C:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.0009/81 (ExAC)
A=0.0037/14 (1000 Genomes)
A=0.0030/32 (GO-ESP)
A=0.0033/417 (TOPMED)
HGVS Names
  • CM000685.2:g.37796121C>A
  • NC_000023.10:g.37655374C>A
  • NC_000023.11:g.37796121C>A
  • NG_009065.1:g.21101C>A
  • NM_000397.3:c.654C>A
  • NP_000388.2:p.Gly218=
  • NW_003871099.1:g.507927C>A
  • XP_005272645.1:p.Gly186=
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 ss50400501 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35080474 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
ss50400501RSG_UW|CYBB-016385byFreqfwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt02/02/0609/05/14126Genomicunknown
ss159745271SEATTLESEQ|CYBB-37540314fwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt07/10/0907/10/09131Genomicunknown
ss160625100ILLUMINA|HumanOmni1-Quad_v1-0_B_rs35080474-128_B_R_1562443292rev/BG/Taaacactcactcagctccatggatggcaagccaatgaagaagatcacaaagagatgatgt08/04/0910/04/09131Genomicunknown
ss3414281481000GENOMES|20100804_snps_179852_chrX_37655374fwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt03/23/1103/23/11134Genomicunknown
ss342551883NHLBI-ESP|ESP2500-chrX-37655374byFreqfwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt03/25/1109/05/14134Genomicunknown
ss472343358CORRELAGEN|CYBB_654C_A_100410fwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt11/18/1111/22/11136Genomicunknown
ss481715137ILLUMINA|HumanOmni1-Quad_v1-0_C_rs35080474-131_B_R_1863354725fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag01/30/1208/28/15146Genomicunknown
ss482702651ILLUMINA|HumanOmni2.5-4v1_D_kgp22766682-0_B_R_1860506199fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag01/30/1210/28/16137Genomicunknown
ss484371838ILLUMINA|HumanOmni2.5-4v1_B_SNP23-37540314-0_B_R_1650637139fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag01/30/1210/29/16137Genomicunknown
ss4911994381000GENOMES|20110521_exome_707236_chrX_37655374fwd/TA/Cacatcatctctttgtgatcttcttcattggcttgccatccatggagctgagtgagtgttt02/10/1202/22/12137Genomicunknown
ss535294785ILLUMINA|HumanOmni5-4v1_B_kgp30671767-0_B_R_1892400441fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag06/22/1208/28/15146Genomicunknown
ss779131987ILLUMINA|HumanOmni25Exome-8v1_A_kgp22766682-0_B_R_1860506199fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag05/30/1307/09/15146Genomicunknown
ss781849241ILLUMINA|HumanOmni2.5-4v1_H_kgp22766682-0_B_R_1860506199fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag05/30/1307/28/15146Genomicunknown
ss834596518ILLUMINA|HumanOmni2.5-8v1_A_kgp22766682-0_B_R_1860506199fwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag09/18/1307/28/15146Genomicunknown
ss15541212371000GENOMES|PHASE3_chrX_894919byFreqfwd/TA/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag08/16/1408/07/15144Genomicunknown
ss1694490501EVA_EXAC|EVA_EXAC_9990165fwd/A/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag03/04/1503/04/15144Genomicunknown
ss2316808247HUMAN_LONGEVITY|HLI-X-37796121-C-Afwd/A/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag11/18/1611/18/16150Genomicunknown
ss3608979105TOPMED|TOPMed_freeze_5?chrX:37,796,121fwd/A/Catctctttgtgatcttcttcattggcttgccatccatggagctgagtgag10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35080474|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 ACCTATAATA TTGTGCTTGC GCACATGTGT GTGTGTGTGT GTGTGTGTGT GTGTGTGTGT
 GTGTGTGTGT GTTTATATTT TACAGAACCC TGAAGGAGGC CTGTACCTGG CTGTGACCCT
 GTTGGCAGGC ATCACTGGAG TTGTCATCAC GCTGTGCCTC ATATTAATTA TCACTTCCTC
 CACCAAAACC ATCCGGAGGT CTTACTTTGA AGTCTTTTGG TACACACATC ATCTCTTTGT
 GATCTTCTTC ATTGG
 M
 CTTGCCATCC ATGGAGCTGA GTGAGTGTTT AAATTCTGAA GTGAAGGATT TCATGTCCCT
 CAATTTCTAG GCAGGATGCT CCATTAGAGG CACAGTGACC TCCTTGCCTG TGTGTGGTTA
 GCCTGTCTGC TAAGGGAATG TGAGAGGATA GCAGAGGTCA GTTTGATAGA AACCAGTCAA
 CATTGGCATT TTTGTTTCAT GCACCCATGT AATTGCTATT CATGGTGAAG TTATATATAG
 CAAGCTTGAA AAATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
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.
Source0/C
A/A
A/C
C/C
HWP0
A
C
ss1554121237EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.010600000.98940003
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1694490501ExAc_Aggregated_Populations121378AF 0.000790920.99920911
ss342551883ESP_Cohort_Populations 4548GF 0.000879510.003518030.995602490.00100000 0.002638520.99736148
ss50400501JAR_CEPH-PANELEuropean 46IG0.34782609 0.652173940.583882000.17391305 0.82608694
JAR_YORUB-PANELSub-Saharan African 48IG0.45833334 0.041666670.500000000.606531000.229166670.020833330.75000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0300000

  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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