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Reference SNP (refSNP) Cluster Report: rs12722495                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0347/174 (1000 Genomes)
C=0.0701/8798 (TOPMED)
HGVS Names
  • CM000672.2:g.6055320T>C
  • NC_000010.10:g.6097283T>C
  • NC_000010.11:g.6055320T>C
  • NG_007403.1:g.11990A>G
  • NM_000417.2:c.64+6768A>G
  • NM_001308242.1:c.64+6768A>G
  • NM_001308243.1:c.64+6768A>G
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 ss20422831 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12722495 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
ss20422831PGA-UW-FHCRC|IL2RA-008942byFreqfwd/TA/Gcttcccttccagttccttgaatacttccaatcgcacttaggattgaaactcaccaaatta03/03/0404/07/04121Genomicunknown
ss52580003JDRF_WT_DIL|DIL9620fwd/TA/Gcttcccttccagttccttgaatacttccaatcgcacttaggattgaaactcaccaaatta06/02/0606/02/06127Genomicunknown
ss88080047BCMHGSC_JDW|JWB-0229039rev/BC/Ttaatttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaagggaag02/26/0802/27/08129Genomicunknown
ss1091956631000GENOMES|CEU.trio.12.15.2008_2285876_chr10_6137289rev/BC/Ttaatttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaagggaag12/16/0812/16/08130Genomicunknown
ss172232943ILLUMINA|Human1M-Duov3_B_rs12722495-128_T_F_1518177010fwd/TA/Gcttcccttccagttccttgaatacttccaatcgcacttaggattgaaactcaccaaatta10/01/0910/02/09132Genomicunknown
ss2350371901000GENOMES|pilot_1_CEU_4641819_chr10_6137289rev/C/Ttaatttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaagggaag05/01/1005/01/10132Genomicunknown
ss987155196EVA-GONL|EVA-GONL_rs12722495rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag04/23/1404/25/14142Genomicunknown
ss1076730097JMKIDD_LAB|HGDP_WGS_chr10_6097283rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag07/10/1407/11/14142Genomicunknown
ss13361226891000GENOMES|PHASE3_V1_48721063rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag08/16/1408/16/14142Genomicunknown
ss1426208083DDI|DDI_rs12722495rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag11/04/1411/04/14144Genomicunknown
ss1596802917EVA_DECODE|EVA_DECODE_10_6137289_58895_rs12722495rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag03/02/1503/03/15144Genomicunknown
ss1623907802EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_6097283_26927690rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag03/04/1503/04/15144Genomicunknown
ss1666901835EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_6097283_26927690rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag03/04/1503/04/15144Genomicunknown
ss1930475941WEILL_CORNELL_DGM|SNV:chr10:6097283rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag10/16/1510/17/15147Genomicunknown
ss2025960854JJLAB|SNP6463409rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag08/29/1608/30/16149Genomicunknown
ss2094857964ILLUMINA|Immuno_BeadChip_11419691_B_imm_10_6137289-1_T_R_1670049502rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag09/27/1609/27/16150Genomicunknown
ss2095004862ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_10_6137289-1_T_R_2310656969rev/BC/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag09/27/1609/27/16150Genomicunknown
ss2154202869USC_VALOUEV|NC_000010.10:g.6097283T>Crev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag11/17/1611/17/16150Genomicunknown
ss2172343752HUMAN_LONGEVITY|HLI-10-6055320-T-Crev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag11/18/1611/18/16150Genomicunknown
ss2335053113TOPMED|10_6097283_T/Crev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag11/19/1611/19/16150Genomicunknown
ss2885085116GNOMAD|rs12722495rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag05/19/1705/19/17151Genomicunknown
ss2985550135AFFY|Axiom_Smokesc1_Affx-3450188rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag05/24/1705/24/17151Genomicunknown
ss3005872104SWEGEN|NC_000010.10:g.6097283T>Crev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag05/30/1705/30/17151Genomicunknown
ss3021210564ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs12722495-138_T_F_2264355083rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag06/28/1706/28/17151Genomicunknown
ss3026764021BIOINF_KMB_FNS_UNIBA|10.6055320T>Crev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag07/05/1707/05/17151Genomicunknown
ss3110618921TOPMED|TOPMed_freeze_5?chr10:6,055,320rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag09/29/1709/29/17151Genomicunknown
ss3348940782CSHL|rs12722495rev/C/Ttggtgagtttcaatcctaagtgcgattggaagtattcaaggaactggaag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12722495|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 gttctgcact aagaaaaatt cctctgcctt gggatcctgt tgatctgtga ccttaccccc
 aaccctgtgc tctctgaaac atgtgctgtg tccactcagg attaaatgga ttaagggcgg
 tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaGTG ATGGCCAAGA CTCATAAGAT
 GAATTAAGCG GACTCTCTGG GGAACAGAAC CGAACATCAC AATACCTTCC CTTCCAGTTC
 CTTGAATACT TCCAA
 R
 TCGCACTTAG GATTGAAACT CACCAAATTA GAGAGATGGA ATAATGATTT CCATGGTTGG
 TCTGATTCAC TAGGAACAGG TATGCTCAAG CAGTACTTCT CAACCTTTAA TGCATTTAGA
 AATCATCCAG GGATCTTGTC ACGGAGCAAA TTCTGACTCG GGAGGTCAGG GGTTACCGCC
 TAAGATTCTG GTGCAAACAG GTTCCACAGG AGGCCTATGT TGTGGGTGCA TGAACCCCAT
 TTTGAGTAAC AAGGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs12722495 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
HWPA
G
ss1336122689EAS 1008AF 1.00000000
EUR 1006AF 0.922499950.07749999
AFR 1322AF 0.993200000.00680000
AMR 694AF 0.959699990.04030000
SAS 978AF 0.939700010.06030000
ss20422831PGA-AFRICAN-PANELAfrican American 48IG1.00000000 1.00000000
PGA-EUROPEAN-PANELEuropean 46IG0.869565190.130434781.000000000.934782620.06521739
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss235037190pilot_1_CEU_low_coverage_panel 120AF 0.941666660.05833333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.067+/-0.1700000

  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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