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Reference SNP (refSNP) Cluster Report: rs3212335                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:106/151
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:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3181/1593 (1000 Genomes)
T=0.3186/40001 (TOPMED)
HGVS Names
  • CM000677.2:g.26766994C>T
  • NC_000015.10:g.26766994C>T
  • NC_000015.9:g.27012141C>T
  • NG_012836.1:g.11787G>A
  • NM_000814.5:c.240+5408G>A
  • NM_001278631.1:c.-112+5408G>A
  • NM_021912.4:c.240+5408G>A
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 ss282188929 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3212335 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
ss4472707LDN|GABRB3-SNP05byFreqfwd/TA/Gataccttatataatacgctctttagtaagaaggcttgtgtttaatattagaacgtacggt05/29/0209/05/14106Genomicunknown
ss21286346SSAHASNP|WGSA-200403-chr15.chr15.NT_026446.12_3446940rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat03/19/0403/19/04121Genomicunknown
ss43761638ABI|hCV218361byFreqrev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat07/18/0503/31/08126Genomicunknown
ss66397470AFFY|SNP_A-2082513byFreqfwd/TA/Gacgctctttagtaagaaggcttgtgtttaata10/29/0603/31/08127Genomicunknown
ss76143746AFFY|AFFY_6_1M_SNP_A-2082513fwd/TA/Gacgctctttagtaagaaggcttgtgtttaata08/28/0708/30/07129Genomicunknown
ss77574173HGSV|Cor12156_SNV_20070510.chr15_24563234rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat10/09/0710/13/07129Genomicunknown
ss81940560KRIBB_YJKIM|KHS163949fwd/TA/Gataccttatataatacgctctttagtaagaaggcttgtgtttaatattagaacgtacggt11/30/0712/01/07130Genomicunknown
ss83314113HGSV|Cor18555_SNV_20070510.chr15_24563234rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat11/27/0712/04/07130Genomicunknown
ss96798956HUMANGENOME_JCVI|1103645569445rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat03/27/0803/27/08130Genomicunknown
ss103223459BGI|BGI_rs3212335rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat06/05/0806/18/09131Genomicunknown
ss1086868411000GENOMES|CEU.trio.12.15.2008_3132427_chr15_24563234rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat12/16/0812/16/08130Genomicunknown
ss136933617ENSEMBL|ENSSNP1078664rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat12/08/0810/15/09131Genomicunknown
ss156346597GMI|GMI_SNP_35262075rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat06/24/0906/25/09131Genomicunknown
ss172629504AFFY|GenomeWideSNP_5_SNP_A-2082513fwd/TA/Gacgctctttagtaagaaggcttgtgtttaata10/01/0910/02/09132Genomicunknown
ss200639012BUSHMAN|BUSHMAN-chr15-24563233rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat02/16/1003/07/10132Genomicunknown
ss207212268BCM-HGSC-SUB|BCM_CMT_1011-2703919rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat03/15/1003/18/10132Genomicunknown
ss2115838001000GENOMES|YRI.trio.3.2010_1252463_chr15_24563234rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat03/29/1003/30/10132Genomicunknown
ss2268073661000GENOMES|pilot_1_YRI_8617049_chr15_24563234rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat04/22/1004/22/10132Genomicunknown
ss2367188321000GENOMES|pilot_1_CEU_6323461_chr15_24563234rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat05/01/1005/01/10132Genomicunknown
ss2431174311000GENOMES|pilot_1_CHB+JPT_5002508_chr15_24563234rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat05/01/1005/01/10132Genomicunknown
ss254854907BL|SNP10395_15_24563234rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat08/19/1008/19/10134Genomicunknown
ss282188929GMI|GMI_AK_SNP_6509324rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat12/16/1012/16/10137Genomicunknown
ss286922842GMI|GMI_NA10851_SNP_2935633rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat12/17/1012/17/10138Genomicunknown
ss291806253PJP|SNP_1312611_chr15_24563234rev/C/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat01/21/1101/21/11134Genomicunknown
ss491491293EXOME_CHIP|.GWAS._207519_chr_15_27012141rev/BC/Taccgtacgttctaatattaaacacaagccttcttactaaagagcgtattatataaggtat03/05/1203/05/12137Genomicunknown
ss564376455TISHKOFF|snp_chr15_27012141rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/22/1211/23/12138Genomicunknown
ss660089034SSMP|15_27012141rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa12/14/1202/13/15138Genomicunknown
ss780684524ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/30/1307/10/15146Genomicunknown
ss783357973ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/31/1306/18/15146Genomicunknown
ss991614605EVA-GONL|EVA-GONL_rs3212335rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa04/23/1404/30/14142Genomicunknown
ss1079994816JMKIDD_LAB|HGDP_WGS_chr15_27012141rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa07/10/1407/12/14142Genomicunknown
ss13527825491000GENOMES|PHASE3_V1_66085054rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa08/16/1408/16/14142Genomicunknown
ss1427572816DDI|DDI_rs3212335rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/04/1411/04/14144Genomicunknown
ss1577517189EVA_GENOME_DK|EVA_GENOME_DK_snv_rs3212335rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa02/19/1502/19/15144Genomicunknown
ss1632651234EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_27012141_36553126rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa03/04/1503/04/15144Genomicunknown
ss1675645267EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_27012141_36553126rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa03/04/1503/04/15144Genomicunknown
ss1695625707EVA_DECODE|EVA_DECODE_15_24563234_40280_rs3212335rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa03/02/1503/04/15144Genomicunknown
ss1713476843EVA_SVP|EVA_SVP_1171210rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa03/12/1503/12/15144Genomicunknown
ss1752153975ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/27/1506/09/15146Genomicunknown
ss1808125817HAMMER_LAB|Hsieh_7150531rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa07/15/1507/16/15146Genomicunknown
ss1917893648ILLUMINA|HumanExome-12v1-1_B_exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa10/16/1510/16/15147Genomicunknown
ss1935011131WEILL_CORNELL_DGM|SNV:chr15:27012141rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa10/16/1510/17/15147Genomicunknown
ss1946388276ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa10/29/1510/29/15147Genomicunknown
ss1959596615ILLUMINA|exm-rs3212335-131_B_R_1990482641rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/13/1511/13/15147Genomicunknown
ss1968067965GENOMED|rs3212335rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa02/16/1602/16/16147Genomicunknown
ss2028285760JJLAB|SNP8788315rev/BC/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa08/29/1608/31/16149Genomicunknown
ss2156682293USC_VALOUEV|NC_000015.9:g.27012141C>Trev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/17/1611/17/16150Genomicunknown
ss2205450372HUMAN_LONGEVITY|HLI-15-26766994-C-Trev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/18/1611/18/16150Genomicunknown
ss2369983294TOPMED|15_27012141_C/Trev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa11/19/1611/19/16150Genomicunknown
ss2628635544SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5613342rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa01/06/1701/06/17151Genomicunknown
ss2633207343ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs3212335-131_B_R_18858146rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa02/02/1702/02/17151Genomicunknown
ss2633207344ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs3212335-131_B_R_2130rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa02/02/1702/02/17151Genomicunknown
ss2701140779GRF|rs3212335rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa02/13/1702/13/17151Genomicunknown
ss2932882687GNOMAD|rs3212335rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/23/1705/23/17151Genomicunknown
ss2985034787AFFY|Axiom_PsorMich_Affx-11364058rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/24/1705/24/17151Genomicunknown
ss2985665498AFFY|Axiom_Smokesc1_Affx-11364058rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/24/1705/24/17151Genomicunknown
ss3012991687SWEGEN|NC_000015.9:g.27012141C>Trev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa05/30/1705/30/17151Genomicunknown
ss3021615235ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs3212335-131_B_R_1990482641rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa06/28/1706/28/17151Genomicunknown
ss3027966801BIOINF_KMB_FNS_UNIBA|15.26766994C>Trev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa07/05/1707/05/17151Genomicunknown
ss3222995748TOPMED|TOPMed_freeze_5?chr15:26,766,994rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa10/01/1710/01/17151Genomicunknown
ss3351037461CSHL|rs3212335rev/C/Tacgttctaatattaaacacaagccttcttactaaagagcgtattatataa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3212335|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GGACACAATT GATACCAAAG TGATATCATA AGAGGCTGAG CTCTACAGAG AAAATCTCAG
 TGAGGACACC CACACTATCA CATGTTAGCA GGCTGTCCTT TACTGATTGC TTCTGGAGAG
 CCCTGGGCCA TATTCAGAGT TTGCATATGA ATTGCTATTA GCAGTTTAAA GGTAGGAAAT
 GCGCTAATGC TCTTATTACA AAGCACGCTG GGGGATGACT CAGCAGAAAG GAAGCGTTTC
 CCTGACCCAG TTGGGGTTGG AAAACTGCTT ACATGGAAGG CACTTCAGGG GTAAGGTCCA
 GGGTGTGTGT CTGTGCTTGG CTCTAGGTTG CTCCATTTGG GAGGTAAGGG TGTTTATTGA
 GCACATTACT TTTCACTGAC AGTATGTTTC ATGCATAAGT TATGATCATA CATCAATGCT
 GGGGCACTGA TAAGAAAGCA TATAATGAAC TTCAGAGATG GAAGACAATA ATACCTTATA
 TAATACGCTC TTTAGTAAGA
 R
 AGGCTTGTGT TTAATATTAG AACGTACGGT ATAGAGAGCA AAATGAGAAT GCTTTTTGCC
 TTTCCCCTCA GGAAGGTTGT AAAGCTTATG TTACATCTCT TAAAAAAATG GATCTTACAT
 GCATGGTCCT GTTGTGGATG GCCTCTTGCT TGAGCCCGTG CTGGGCTCTA GGATCTTATG
 GTATGTTGTC TTTAGTTTGA CATGATGGGG CAAATCTGCT TATTTACATG TAGTTAAAAG
 AATTAACTAC ATGTAAATAA GTTAAATCTG GTAGGTTGCA GTTGGAGTTG CAGTTGACAA
 ATTAGGACTG GTGTCTGTCT TTGACTCCAA CATTTGGTTT TTCCAAAGAT AAAATATTCT
 GTTTATATTT CCTTGGATAA TGGTAAATAA AATGAGTTCC AAAAGATAGC TGTTGCTTCT
 TGGACTACTT GCCAAATGAA AGTATCTTGT AGATTTGGTC TTCATTTAAA TGAAGAATGG
 AGTAGATGTT AATGAGGAGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_026446 ABBA01048709
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs3212335 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1352782549EAS 1008AF 0.409700010.59030002
EUR 1006AF 0.344899980.65509999
AFR 1322AF 0.267800000.73219997
AMR 694AF 0.220499990.77950001
SAS 978AF 0.333299990.66670001
ss136933617ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss200639012BANTU 2IG 1.00000000 0.500000000.50000000
ss226807366pilot_1_YRI_low_coverage_panel 118AF 0.211864410.78813559
ss236718832pilot_1_CEU_low_coverage_panel 120AF 0.408333330.59166664
ss243117431pilot_1_CHB+JPT_low_coverage_panel 120AF 0.416666660.58333331
ss43761638HapMap-CEUEuropean 224IG0.178571430.437500000.383928570.371093000.397321430.60267860
HapMap-HCBAsian 86IG0.209302320.418604640.372093020.371093000.418604640.58139533
HapMap-JPTAsian 172IG0.104651160.500000000.395348850.402784000.354651150.64534885
HapMap-YRISub-Saharan African 226IG0.070796460.318584080.610619490.294266000.230088500.76991153
HAPMAP-ASW 98IG0.102040820.428571430.469387771.000000000.316326530.68367344
HAPMAP-CHBAsian 82IG0.146341460.536585390.317073170.527089000.414634140.58536583
HAPMAP-CHD 170IG0.164705890.470588240.364705891.000000000.400000010.60000002
HAPMAP-GIH 174IG0.126436780.413793120.459770110.527089000.333333340.66666669
HAPMAP-LWK 180IG0.111111110.311111120.577777800.099721000.266666680.73333335
HAPMAP-MEX 100IG0.040000000.380000000.579999980.654721000.230000000.76999998
HAPMAP-MKK 284IG0.077464790.323943670.598591570.200325000.239436630.76056337
HAPMAP-TSI 176IG0.113636370.375000000.511363630.317310000.301136370.69886363
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss4472707AUTISM-GABRB3-SUB-SCREEN 12AF1.00000000 0.583333020.41666701
ss66397470HapMap-CEUEuropean 118IG0.152542370.423728820.423728820.527089000.364406790.63559324
HapMap-HCBAsian 90IG0.200000000.444444450.355555560.583882000.422222230.57777780
HapMap-JPTAsian 90IG0.088888890.533333360.377777790.273322000.355555560.64444447
HapMap-YRISub-Saharan African 120IG0.066666670.349999990.583333310.751830000.241666660.75833333
ss76143746ICMHP 4IG 0.500000000.50000000 0.250000000.75000000
ss96798956J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.434+/-0.1690000

  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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