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Reference SNP (refSNP) Cluster Report: rs35734242                 
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:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.3998/2002 (1000 Genomes)
C=0.3893/48885 (TOPMED)
HGVS Names
  • CM000666.2:g.712911T>C
  • NC_000004.11:g.706700T>C
  • NC_000004.12:g.712911T>C
  • NM_001317836.1:c.-289+6941T>C
  • NM_006315.5:c.-190+6941T>C
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 ss277536352 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35734242 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
ss44538584ABI|hCV26934909fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc07/19/0507/19/05126Genomicunknown
ss104031569BGI|BGI_rs35734242fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc06/07/0806/17/09131Genomicunknown
ss1128414241000GENOMES|CEU.trio.12.15.2008_896864_chr4_696700fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc12/18/0812/18/08130Genomicunknown
ss156736860GMI|GMI_SNP_121092483fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc06/24/0906/25/09131Genomicunknown
ss161567683ENSEMBL|ENSSNP2454145byFreqfwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc09/24/0903/07/10131Genomicunknown
ss165986067COMPLETE_GENOMICS|NA20431_36_chr4_696700fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc09/30/0909/30/09132Genomicunknown
ss197886205BUSHMAN|BUSHMAN-chr4-696699fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc02/16/1003/05/10132Genomicunknown
ss206555399BCM-HGSC-SUB|BCM_CMT_1011-948171fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc03/15/1003/18/10132Genomicunknown
ss2113424181000GENOMES|YRI.trio.3.2010_360176_chr4_696700fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc03/29/1003/30/10132Genomicunknown
ss2206895041000GENOMES|pilot_1_YRI_2499187_chr4_696700fwd/C/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc04/22/1004/22/10132Genomicunknown
ss2322221501000GENOMES|pilot_1_CEU_1826779_chr4_696700fwd/C/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc05/01/1005/01/10132Genomicunknown
ss2395516111000GENOMES|pilot_1_CHB+JPT_1436688_chr4_696700fwd/C/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc05/01/1005/01/10132Genomicunknown
ss252869285BL|SNP470_4_696700fwd/BC/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc08/18/1008/18/10134Genomicunknown
ss277536352GMI|GMI_AK_SNP_1856564fwd/C/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc12/16/1012/16/10137Genomicunknown
ss284828266GMI|GMI_NA10851_SNP_841039fwd/C/Tgatgcaaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtgggtcc12/17/1012/17/10138Genomicunknown
ss483002435ILLUMINA|HumanOmni2.5-4v1_D_kgp2568647-0_T_R_1811056911fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg01/30/1210/28/16137Genomicunknown
ss484852653ILLUMINA|HumanOmni2.5-4v1_B_SNP4-696700-0_T_R_1632956317fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg01/30/1210/28/16137Genomicunknown
ss534983015ILLUMINA|HumanOmni5-4v1_B_kgp2568647-0_T_R_1811056911fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg06/22/1208/28/15146Genomicunknown
ss557248842TISHKOFF|snp_chr4_706700fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg11/22/1211/23/12138Genomicunknown
ss651000987SSMP|4_706700fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg12/14/1202/10/15138Genomicunknown
ss780117734ILLUMINA|HumanOmni25Exome-8v1_A_kgp2568647-0_T_R_1811056911fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg05/30/1307/09/15146Genomicunknown
ss781948857ILLUMINA|HumanOmni2.5-4v1_H_kgp2568647-0_T_R_1811056911fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg05/30/1307/28/15146Genomicunknown
ss835600637ILLUMINA|HumanOmni2.5-8v1_A_kgp2568647-0_T_R_1811056911fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg09/18/1307/28/15146Genomicunknown
ss979664308EVA-GONL|EVA-GONL_rs35734242fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg04/23/1404/24/14142Genomicunknown
ss1071210150JMKIDD_LAB|HGDP_WGS_chr4_706700fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg07/10/1407/11/14142Genomicunknown
ss13080542401000GENOMES|PHASE3_V1_19490489fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg08/16/1408/16/14142Genomicunknown
ss1429736889DDI|DDI_rs35734242fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg11/04/1411/05/14144Genomicunknown
ss1580377307EVA_GENOME_DK|EVA_GENOME_DK_snv_rs35734242fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg02/19/1502/20/15144Genomicunknown
ss1589161320EVA_DECODE|EVA_DECODE_4_696700_5526_rs35734242fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg03/02/1503/03/15144Genomicunknown
ss1609219871EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_706700_10810505fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg03/04/1503/04/15144Genomicunknown
ss1652213904EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_706700_10810505fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg03/04/1503/04/15144Genomicunknown
ss1800779310HAMMER_LAB|Hsieh_2061093fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg07/15/1507/15/15146Genomicunknown
ss1922894148WEILL_CORNELL_DGM|SNV:chr4:706700fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg10/16/1510/17/15147Genomicunknown
ss2022021372JJLAB|SNP2523927fwd/BC/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg08/29/1608/30/16149Genomicunknown
ss2150126326USC_VALOUEV|NC_000004.11:g.706700T>Cfwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg11/17/1611/17/16150Genomicunknown
ss2259753505HUMAN_LONGEVITY|HLI-4-712911-T-Cfwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg11/18/1611/18/16150Genomicunknown
ss2427152338TOPMED|4_706700_T/Cfwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg11/20/1611/20/16150Genomicunknown
ss2625511437SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1595983fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg01/06/1701/06/17151Genomicunknown
ss2634070071ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp2568647-0_T_R_181105691fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg02/02/1702/02/17151Genomicunknown
ss2705560745GRF|rs35734242fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg02/13/1702/13/17151Genomicunknown
ss2804589542GNOMAD|rs35734242fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg05/18/1705/18/17151Genomicunknown
ss2993978403SWEGEN|NC_000004.11:g.706700T>Cfwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg05/30/1705/30/17151Genomicunknown
ss3024780328BIOINF_KMB_FNS_UNIBA|4.712911T>Cfwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg07/05/1707/05/17151Genomicunknown
ss3345493932CSHL|rs35734242fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg10/02/1710/02/17151Genomicunknown
ss3417991035TOPMED|TOPMed_freeze_5?chr4:712,911fwd/C/Taaagaggggaaatctgtctgcagactccttgaaactccctctaatcagtg10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35734242|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TCTAATATTC GTGTTTGTTT GTTTGTTTTT GTTTTTTGTT TGTTTGTTTG TTTTGAGATG
 GAGTTTTGCT CTTGTAGCCC AGGCTGGAGT GCAGTGGCGC GATCTCGGCT CACTGCAACC
 TCCGCCTCCT GGTTCAAGTG ATTCTCCTGC CTCAGCTCCC TAAGTAGCTG GGATTACAGG
 CGCCTGCCAC CATGCCCGGC TAAGTTTTTG TATTTTTAGT AGAGATGGGG TTTTGCCATG
 TTGGCCAGGC TGGTCTCAAA CTCCTGACCT CATGACCCGC CCGCCTTGGC CTCCCAAAGT
 GCTGGGATTA CAGGCGTGAG CCACCGCGCC CGGCCAATAA ACTCTAATAT TTAGGTGCAT
 TTAGAGAGTG GATTTGTTGG CTTGGTTTCT TTTTTCTTTT TTTCAAATTC ATTGATATTT
 GCTGGGCTTT GCTACATTAA CAGCAAATTC CAGATGTTTA ATGAGAAATA GATGCAAAGA
 GGGGAAATCT GTCTGCAGAC
 Y
 TCCTTGAAAC TCCCTCTAAT CAGTGGGTCC CGTTGGCCTT GTGGGTCTTA TGGGGGCTGT
 GAGCCTCGTG GGAGCTGTGG GCCTCATGGG GGCTGTATGG CCTTGTTGGG GGCCTGTGGG
 GCCTGTGGGC CCTGTGGGGG GCTGTGTACC TCCTGGGGGC TGTGGCCAAG TGGGTCCTAT
 GTTCTTCGTG GGTCCTGTGT GGTCTGGTGG GGGCTGTGGC CTCGTGGGAG CTGTGGCTTT
 GTGAGTCCTG TGTGGCGTCA TGGGGGCTGT GGCCTTGTGG GTCCTGTGTG GCCTGGTGGG
 GGCTGTGGCC TTGTGGGTCC TGTGTGGCCT GGTGGGGGCT GTGGCTTCAT GGGTCCTGTG
 TGGTCTGGTG GGGGCTGTGG CCTCATGGGG GCTGTAGCCT TGTGGGTCCT GTGTGGCCTG
 GTGGGGGCTG TGGCTTTGTG GGTCCTGTGT GTCTCATGGG AGCCGTGGCC TTGTGGGTCC
 TGTGTGGCCT TGTGGGGGCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000004
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.
SourceC/C
C/T
T/T
HWPC
T
ss1308054240EAS 1008AF 0.445400000.55460000
EUR 1006AF 0.441399990.55860001
AFR 1322AF 0.293500010.70649999
AMR 694AF 0.354500000.64550000
SAS 978AF 0.485699980.51429999
ss161567683ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss165986067PGP 2IG 1.00000000 0.500000000.50000000
ss220689504pilot_1_YRI_low_coverage_panel 118AF 0.211864410.78813559
ss232222150pilot_1_CEU_low_coverage_panel 120AF 0.508333330.49166667
ss239551611pilot_1_CHB+JPT_low_coverage_panel 120AF 0.458333340.54166669

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.480+/-0.0980000

  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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