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Reference SNP (refSNP) Cluster Report: rs2070744                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
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:C=0.2344/1174 (1000 Genomes)
C=0.2890/36292 (TOPMED)
HGVS Names
  • CM000669.2:g.150992991C>T
  • NC_000007.13:g.150690079C=
  • NC_000007.13:g.150690079C>T
  • NC_000007.14:g.150992991C=
  • NC_000007.14:g.150992991C>T
  • NG_011992.1:g.6933C=
  • NG_011992.1:g.6933C>T
  • NG_055511.1:g.4870C=
  • NG_055511.1:g.4870C>T
  • NM_000603.4:c.-51-762C=
  • NM_000603.4:c.-51-762C>T
  • NM_001160109.1:c.-813C=
  • NM_001160109.1:c.-813C>T
  • NM_001160110.1:c.-813C=
  • NM_001160110.1:c.-813C>T
  • NM_001160111.1:c.-813C=
  • NM_001160111.1:c.-813C>T
Links , Linkout
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 ss279588922 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2070744 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
ss2984092YUSUKE|IMS-JST005724fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct05/24/0110/10/0396Genomicunknown
ss3185868HGBASE|SNP000571452fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc07/09/0110/10/0398Genomicunknown
ss3199808DZGENES|2684R75-2byFreqfwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct08/09/0104/07/0498Genomicunknown
ss3602719SC_JCM|AC010973.4_2598rev/TA/Gagagagactagggctgaggcagggtcagccgccagggaagagcttgatgccctggtggga09/24/0110/10/03100Genomicunknown
ss5112346PGA-UW-FHCRC|NOS3-001132byFreqfwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/06/0204/07/04108Genomicunknown
ss14538453WUGSC_SSAHASNP|chr7.NT_007914.13_11266095fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct11/05/0311/22/03120Genomicunknown
ss22521629SSAHASNP|WGSA-200403-chr7.chr7.NT_007914.13_11266095fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct03/21/0403/21/04121Genomicunknown
ss22893642SSAHASNP|AACC-200403.chr7.NT_007914.13_11266095fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct03/22/0403/22/04121Genomicunknown
ss42994451ABI|hCV15903863fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct07/18/0507/18/05126Genomicunknown
ss69366759PHARMGKB_COBRA|PS205065_PA135947972_93byFreqfwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct03/22/0708/14/07127Genomicunknown
ss69369888PHARMGKB_PARC|PS203293_PA128450023_1132byFreqfwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct03/22/0708/14/07127Genomicunknown
ss76874640CGM_KYOTO|720438fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/12/0709/12/07129cDNAunknown
ss77530101HGSV|Cor12156_SNV_20070510.chr7_150127727fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct10/09/0710/13/07129Genomicunknown
ss79996700HGSV|Cor18507_SNV_20070510.chr7_150127727fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct11/23/0711/24/07130Genomicunknown
ss83890053HGSV|Cor19240_SNV_20070510.chr7_150127727fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct11/30/0712/06/07130Genomicunknown
ss93791415BCMHGSC_JDW|JWB-2393283fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct02/26/0803/05/08129Genomicunknown
ss98196058HUMANGENOME_JCVI|1103652740636fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct03/31/0803/31/08130Genomicunknown
ss105110335PHARMGKB_INVEST|PS207724_PA159021600_301byFreqfwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct07/23/0809/05/14130Genomicunknown
ss105582324BGI|BGI_rs2070744fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/10/0806/18/09130Genomicunknown
ss1126421071000GENOMES|CEU.trio.12.15.2008_1882810_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct12/17/0812/17/08130Genomicunknown
ss1146523081000GENOMES|NA19240_2008_12_16_1699173_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct12/18/0812/18/08130Genomicunknown
ss116385419ILLUMINA-UK|NA18507_000187835_NCBI36.1_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct01/16/0901/17/09130Genomic99 %
ss143092924ENSEMBL|ENSSNP7160440fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct06/05/0906/05/09131Genomicunknown
ss143668346ENSEMBL|ENSSNP4240929fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct12/08/0810/19/09131Genomicunknown
ss155688766GMI|GMI_SNP_47929895fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct06/24/0906/24/09131Genomicunknown
ss162844273COMPLETE_GENOMICS|NA07022_36_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/28/0909/29/09132Genomicunknown
ss165683257COMPLETE_GENOMICS|NA19240_36_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/29/0909/30/09132Genomicunknown
ss167259429COMPLETE_GENOMICS|NA20431_36_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct09/30/0909/30/09132Genomicunknown
ss198489127BUSHMAN|BUSHMAN-chr7-150321011fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct02/16/1003/06/10132Genomicunknown
ss2234135911000GENOMES|pilot_1_YRI_5223274_chr7_150321012fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct04/22/1004/22/10132Genomicunknown
ss2342253771000GENOMES|pilot_1_CEU_3830006_chr7_150321012fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct05/01/1005/01/10132Genomicunknown
ss2411246491000GENOMES|pilot_1_CHB+JPT_3009726_chr7_150321012fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct05/01/1005/01/10132Genomicunknown
ss254764955BL|SNP164478_7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct08/19/1008/19/10134Genomicunknown
ss279588922GMI|GMI_AK_SNP_3909171fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct12/16/1012/16/10137Genomicunknown
ss285745941GMI|GMI_NA10851_SNP_1758714fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct12/17/1012/17/10138Genomicunknown
ss294002830PJP|SNP_3509188_chr7_150321012fwd/C/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct01/21/1101/21/11134Genomicunknown
ss410872794ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr7_150321012fwd/BC/Ttcccaccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtctctct06/07/1106/07/11135Genomicunknown
ss560399527TISHKOFF|snp_chr7_150690079fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/22/1211/23/12138Genomicunknown
ss654813313SSMP|7_150690079fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc12/14/1202/11/15138Genomicunknown
ss984958627EVA-GONL|EVA-GONL_rs2070744fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc04/23/1404/24/14142Genomicunknown
ss1075100231JMKIDD_LAB|HGDP_WGS_chr7_150690079fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc07/10/1407/11/14142Genomicunknown
ss13277421001000GENOMES|PHASE3_V1_40017710fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc08/16/1408/16/14142Genomicunknown
ss1431329633DDI|DDI_rs2070744fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/04/1411/05/14144Genomicunknown
ss1582463387EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2070744fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc02/19/1502/20/15144Genomicunknown
ss1594549057EVA_DECODE|EVA_DECODE_7_150321012_1157257_rs2070744fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc03/02/1503/03/15144Genomicunknown
ss1619533843EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_150690079_22151589fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc03/04/1503/04/15144Genomicunknown
ss1662527876EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_150690079_22151589fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc03/04/1503/04/15144Genomicunknown
ss1805293094HAMMER_LAB|Hsieh_4306677fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc07/15/1507/16/15146Genomicunknown
ss1928221489WEILL_CORNELL_DGM|SNV:chr7:150690079fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc10/16/1510/17/15147Genomicunknown
ss1959065872ILLUMINA|7:150690079-C-T-0_B_F_2304239107fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/13/1511/13/15147Genomicunknown
ss1970851750GENOMED|rs2070744fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc02/16/1602/16/16147Genomicunknown
ss2024799735JJLAB|SNP5302290fwd/BC/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc08/29/1608/30/16149Genomicunknown
ss2153023386USC_VALOUEV|NC_000007.13:g.150690079C>Tfwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/17/1611/17/16150Genomicunknown
ss2299067676HUMAN_LONGEVITY|HLI-7-150992991-C-Tfwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/18/1611/18/16150Genomicunknown
ss2468612738TOPMED|7_150690079_C/Tfwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc11/20/1611/20/16150Genomicunknown
ss2626884887SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3389718fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc01/06/1701/06/17151Genomicunknown
ss2634678777ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_chr7:150321012-0_B_F_17688fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc02/02/1702/02/17151Genomicunknown
ss2708750930GRF|rs2070744fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc02/13/1702/13/17151Genomicunknown
ss2711124722ILLUMINA|Consortium-OncoArray_15047405_A_rs2070744-131_T_R_2094464420fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc03/22/1703/22/17151Genomicunknown
ss2860854137GNOMAD|rs2070744fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc05/19/1705/19/17151Genomicunknown
ss2986055783AFFY|Axiom_Smokesc1_Affx-29974714fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc05/24/1705/24/17151Genomicunknown
ss3002295999SWEGEN|NC_000007.13:g.150690079C>Tfwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc05/30/1705/30/17151Genomicunknown
ss3022795118ILLUMINA|MEGA_Consortium_v2_15070954_A2_7:150690079-C-T-0_B_F_2304239107fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc06/28/1706/28/17151Genomicunknown
ss3026188880BIOINF_KMB_FNS_UNIBA|7.150992991C>Tfwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc07/05/1707/05/17151Genomicunknown
ss3347917646CSHL|rs2070744fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc10/02/1710/02/17151Genomicunknown
ss3548432948TOPMED|TOPMed_freeze_5?chr7:150,992,991fwd/C/Tccagggcatcaagctcttccctggcggctgaccctgcctcagccctagtc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2070744|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCACACTAGT GTCCAGGAGC AGCTTATGAG GCCCCTTCAC CCTCCATCCT CCAAAACTGG
 CAGACCCCAC CTTCTTGGTG TGACCCCAGA GCTCTGAGCA CAGCCCGTTC CTTCCGCCTG
 CCGGCCCCCC ACCCAGGCCC ACCCCAACCT TATCCTCCAC TGCTTTTCAG AGGAGTCTGG
 CCAACACAAA TCCTCTTGTT TGTTTGTCTG TCTGTCTGCT GCTCCTAGTC TCTGCCTCTC
 CCAGTCTCTC AGCTTCCGTT TCTTTCTTAA ACTTTCTCTC AGTCTCTGAG GTCTCGAAAT
 CACGAGGCTT CGACCCCTGT GGACCAGATG CCCAGCTAGT GGCCTTTCTC CAGCCCCTCA
 GATGGCACAG AACTACAAAC CCCAGCATGC ACTCTGGCCT GAAGTGCCTG GAGAGTGCTG
 GTGTACCCCA CCTGCATTCT GGGAACTGTA GTTTCCCTAG TCCCCCATGC TCCCACCAGG
 GCATCAAGCT CTTCCCTGGC
 Y
 GGCTGACCCT GCCTCAGCCC TAGTCTCTCT GCTGACCTGC GGCCCCGGGA AGCGTGCGTC
 ACTGAATGAC AGGGTGGGGG TGGAGGCACT GGAAGGCAGC TTCCTGCTCT TTTGTGTCCC
 CCACTTGAGT CATGGGGGTG TGGGGGTTCC AGGAAATTGG GGCTGGGAGG GGAAGGGATA
 CCCTAATGTC AGACTCAAGG ACAAAAAGTC ACTACATCCT TGCTGGGCCT CTATCCCCAA
 GAACCCAAAA GGACTCAAGG GTGGGGATCC AGGAGTTCTT GTATGTATGG GGGGAGGTGA
 AGGAGAGAAC CTGCATGACC CTAGAGGTCC CTGTGGTCAC TGAGAGTGTG GGCTGCCATC
 CCCTGCTACA GAAACGGTGC TCACCTTCTG CCCAACCCTC CAGGGAAAGG CACACAGGGG
 TGAGGCCGAA GGCCCTTCCG TCTGGTGCCA CATCACAGAA GGACCTTTAT GACCCCCTGG
 TGGCTCTACC CTGCCACTCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914.14 ABBA01035168 D26607
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
ss105110335PA159021601 2152AF 0.335501850.66449815
ss116385419YRI 2IG 1.00000000 1.00000000
ss1327742100EAS 1008AF 0.121000000.87900001
EUR 1006AF 0.438400000.56160003
AFR 1322AF 0.138400000.86159998
AMR 694AF 0.257900000.74210000
SAS 978AF 0.254599990.74540001
ss143092924ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss143668346ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss162844273CEUEuropean 2IG 1.00000000 1.00000000
ss165683257YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss167259429PGP 2IG 1.00000000 0.500000000.50000000
ss223413591pilot_1_YRI_low_coverage_panel 118AF 0.118644070.88135594
ss234225377pilot_1_CEU_low_coverage_panel 120AF 0.441666660.55833334
ss241124649pilot_1_CHB+JPT_low_coverage_panel 120AF 0.083333340.91666669
ss3199808PL04_African-American 91GF0.043478000.282608990.673913000.751830000.184782490.81521749
PL04_Caucasian 91GF0.108695990.500000000.391303990.583882000.358696010.64130402
ss42994451HapMap-CEUEuropean 118IG 1.00000000 1.00000000
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 1.00000000 1.00000000
ss5112346PGA-AFRICAN-PANELAfrican American 44IG 0.272727280.727272750.751830000.136363640.86363637
PGA-EUROPEAN-PANELEuropean 46IG0.304347810.565217380.130434780.438578000.586956500.41304347
ss69366759PA135947973 202AF 0.331683160.66831684
ss69369888PA128450024 94AF 0.351063820.64893615
ss98196058J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.359+/-0.2250000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNYESYES

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