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Reference SNP (refSNP) Cluster Report: rs3730051                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.2240/1122 (1000 Genomes)
C=0.2403/30171 (TOPMED)
HGVS Names
  • CM000681.2:g.40238790T>C
  • NC_000019.10:g.40238790T>C
  • NC_000019.9:g.40744697T>C
  • NG_012038.2:g.51569A>G
  • NM_001243027.2:c.522+115A>G
  • NM_001243028.2:c.522+115A>G
  • NM_001330511.1:c.708+115A>G
  • NM_001626.5:c.708+115A>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 ss283211107 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3730051 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
ss4915994WIPGA|WI-27780fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc07/12/0210/10/03107cDNAunknown
ss12458512WI_SSAHASNP|chr19.NT_011109.15_13012915rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc07/04/0310/25/06116Genomicunknown
ss17614792CSHL-HAPMAP|CSHL-HuCC-200402.chr19.NT_011109.15_13012915rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc02/19/0403/04/04120Genomicunknown
ss24197079PERLEGEN|afd4394248byFreqrev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc08/10/0409/13/04123Genomicunknown
ss28501142IMCJ-GDT|IMCJ-AKT2_7-AGfwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcrgcttc08/20/0408/20/04126Genomicunknown
ss44172306ABI|hCV11528493byFreqrev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc07/18/0511/03/06126Genomicunknown
ss65776702ILLUMINA|Human1-rs3730051fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc10/10/0610/10/06127Genomicunknown
ss74908350ILLUMINA|ILMN_Human_1M_rs3730051fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc08/28/0708/29/07129Genomicunknown
ss79007276HGSV|Cor18507_SNV_20070510.chr19_45436537rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc10/19/0710/21/07129Genomicunknown
ss95216944SHGC|2078byFreqfwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcngcttc03/21/0809/05/14130Genomicunknown
ss96306735HUMANGENOME_JCVI|1103691145238rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc03/26/0803/26/08130Genomicunknown
ss117707049ILLUMINA-UK|NA18507_000046081_NCBI36.1_chr19_45436537rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc01/19/0901/20/09130Genomic99 %
ss119456994KRIBB_YJKIM|KHS1619241fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc02/04/0902/04/09131Genomicunknown
ss136264094ENSEMBL|ENSSNP1530275byFreqrev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc12/08/0803/07/10131Genomicunknown
ss171764992COMPLETE_GENOMICS|NA20431_36_chr19_45436537rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc10/01/0910/01/09132Genomicunknown
ss173612074ILLUMINA|Human1M-Duov3_B_rs3730051-128_T_F_1513938541fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc10/01/0910/04/09132Genomicunknown
ss208448694BCM-HGSC-SUB|BCM_CMT_1011-3107024rev/BC/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc03/15/1003/19/10132Genomicunknown
ss2281417601000GENOMES|pilot_1_YRI_9951443_chr19_45436537rev/C/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc04/22/1004/22/10132Genomicunknown
ss2376787321000GENOMES|pilot_1_CEU_7283361_chr19_45436537rev/C/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc05/01/1005/01/10132Genomicunknown
ss2438845441000GENOMES|pilot_1_CHB+JPT_5769621_chr19_45436537rev/C/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc05/01/1005/01/10132Genomicunknown
ss244295980ILLUMINA|CVDSNP55v1_A_rs3730051fwd/TA/Ggaagggtggagggaaatttcagtgtcatctgtgcccctctcccttgaggcaggcggcttc06/10/1006/10/10132Genomicunknown
ss283211107GMI|GMI_AK_SNP_7531528rev/C/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc12/16/1012/16/10137Genomicunknown
ss292178189PJP|SNP_1684547_chr19_45436537rev/C/Tgaagccgcctgcctcaagggagaggggcacagatgacactgaaatttccctccacccttc01/21/1101/21/11134Genomicunknown
ss537184140ILLUMINA|HumanOmni5-4v1_B_rs3730051-131_T_F_1895142710rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac06/22/1208/29/15146Genomicunknown
ss565985393TISHKOFF|snp_chr19_40744697rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac11/22/1211/23/12138Genomicunknown
ss661850134SSMP|19_40744697rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac12/14/1202/14/15138Genomicunknown
ss994303454EVA-GONL|EVA-GONL_rs3730051rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac04/23/1405/01/14142Genomicunknown
ss1081906814JMKIDD_LAB|HGDP_WGS_chr19_40744697rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac07/10/1407/12/14142Genomicunknown
ss13631791551000GENOMES|PHASE3_V1_76903275rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac08/16/1408/16/14142Genomicunknown
ss1428404162DDI|DDI_rs3730051rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac11/04/1411/04/14144Genomicunknown
ss1578641269EVA_GENOME_DK|EVA_GENOME_DK_snv_rs3730051rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac02/19/1502/20/15144Genomicunknown
ss1637976571EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_40744697_42419237rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac03/04/1503/04/15144Genomicunknown
ss1680970604EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_40744697_42419237rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac03/04/1503/04/15144Genomicunknown
ss1698357098EVA_DECODE|EVA_DECODE_19_45436537_297903_rs3730051rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac03/02/1503/05/15144Genomicunknown
ss1711513297EVA_MGP|EVA_XIMO_629057rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac03/09/1503/09/15144Genomicunknown
ss1713662901EVA_SVP|EVA_SVP_1356980rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac03/12/1503/12/15144Genomicunknown
ss1809309333HAMMER_LAB|Hsieh_8339214rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac07/15/1507/16/15146Genomicunknown
ss1937797191WEILL_CORNELL_DGM|SNV:chr19:40744697rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac10/16/1510/19/15147Genomicunknown
ss2029677966JJLAB|SNP10180521rev/BC/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac08/29/1608/31/16149Genomicunknown
ss2158218254USC_VALOUEV|NC_000019.9:g.40744697T>Crev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac11/17/1611/17/16150Genomicunknown
ss2225794735HUMAN_LONGEVITY|HLI-19-40238790-T-Crev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac11/18/1611/18/16150Genomicunknown
ss2391511299TOPMED|19_40744697_T/Crev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac11/19/1611/19/16150Genomicunknown
ss2629336325SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6497271rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac01/06/1701/06/17151Genomicunknown
ss2635083620ILLUMINA|Cancer_BeadChip_11459870_A_rs3730051-128_T_F_1768845411rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac02/02/1702/02/17151Genomicunknown
ss2702829155GRF|rs3730051rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac02/13/1702/13/17151Genomicunknown
ss2962907487GNOMAD|rs3730051rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac05/23/1705/23/17151Genomicunknown
ss3017478687SWEGEN|NC_000019.9:g.40744697T>Crev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac05/30/1705/30/17151Genomicunknown
ss3028670647BIOINF_KMB_FNS_UNIBA|19.40238790T>Crev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac07/05/1707/05/17151Genomicunknown
ss3293382939TOPMED|TOPMed_freeze_5?chr19:40,238,790rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac10/02/1710/02/17151Genomicunknown
ss3352304570CSHL|rs3730051rev/C/Tcgcctgcctcaagggagaggggcacagatgacactgaaatttccctccac10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3730051|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GTAAGTTGAA CACATTTTAC TGTAAAAACA AGAGCCATGG TTGCTCAGAA CAGCTCTAGT
 TCTCCCTTGG CTGTGCCTGA TGGAGGCAGA GGACAAGATG GTTCAGCATG TAACCCTTTC
 CTACCGCAGA GCCATGCCTT CACTTAATGC CCCAAAAGGT GCAGCCGGTA TGTGAACCCC
 ATATGGCTGA CTCCTGGGGG CCCCAGCCAG GGCAGGGTGT GTGTGTGCAG AATAAGCAGG
 GCCAGGGCCC TGCCCTGGCA TGGCTCAGCA GAGCCCTCCT CCCTCCCACC TCCCACCCTG
 CTGCCTTCAT CCCCCAGGCG CTGAAGTATG CCTTCCAGAC CCACGACCGC CTGTGCTTTG
 TGATGGAGTA TGCCAACGGG GGTGAGGTGA GCCGCGGCTG CCTTGACTTT GCCCTCTGGG
 GCCTCCTTCT TTAGGGTGGG GCGGGATGGA GAGGAGCTGT GGGTGAGATG GAAGGGTGGA
 GGGAAATTTC AGTGTCATCT
 R
 GTGCCCCTCT CCCTTGAGGC AGGCGGCTTC GTCTCCATTT TGGGGGGGCA GTCACTGAGG
 CTCAGAGAGG TTAAGTGGCT TGCCCAAGTT TACACAGCTA GTGAGTGGGT GGGTCAGGTC
 CAAACCAGTC CAGAGAGGTG TGGAGAGGGC TGTGGGGCGA TAGCACTGGG AAGGATGGTC
 TTAAAGGCCC CAGAGAAAGC CCCCAAGGGT TAAAACCTAG CAGCCCTCCG TTCCCGTGTC
 CTCTCGAAGT GAATTCCCGC AGCCGCTCAG CTTCCCCTTA CAGAGTCGCC TCACTTTTGT
 CACCCACTCC TTGCCTCGCG CCTTCTCTGT GCAGTGGTTG GCACACCTGC TTTGGGATGC
 GTGGTTTGCT CATCTGTCTG ATCTGGGCTT GCCCATGGCC TATTGTTACT TGGTCATGAC
 GTGTGCTTCT TTTTGCCTCC ATGCCATCCT CCCTCCTGTC TCGGATGTCT CTCCCATACC
 CTCTCATGGG TGCCTCCTGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011109 ABBA01040747
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs3730051 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
ss117707049YRI 2IG 1.00000000 0.500000000.50000000
ss136264094ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 6IG0.66666669 0.33333334 0.666666690.33333334
ss1363179155EAS 1008AF 0.711300020.28870001
EUR 1006AF 0.755500020.24450000
AFR 1322AF 0.808600010.19140001
AMR 694AF 0.747799990.25219998
SAS 978AF 0.839500010.16049999
ss171764992PGP 2IG 1.00000000 0.500000000.50000000
ss228141760pilot_1_YRI_low_coverage_panel 118AF 0.762711880.23728813
ss237678732pilot_1_CEU_low_coverage_panel 120AF 0.741666670.25833333
ss24197079AFD_EUR_PANELEuropean 48IG0.458333340.54166669 0.250592000.729166690.27083334
AFD_AFR_PANELAfrican American 44IG0.590909060.40909091 0.479500000.795454560.20454545
AFD_CHN_PANELAsian 44IG0.363636370.590909060.045454550.150222000.659090940.34090909
ss243884544pilot_1_CHB+JPT_low_coverage_panel 120AF 0.733333350.26666668
ss44172306HapMap-CEUEuropean 226IG0.513274310.451327440.035398230.099721000.738938030.26106194
HapMap-HCBAsian 86IG0.465116290.511627910.023255810.099721000.720930220.27906978
HapMap-JPTAsian 170IG0.411764710.494117650.094117650.371093000.658823550.34117648
HapMap-YRISub-Saharan African 226IG0.619469050.345132740.035398230.654721000.792035400.20796460
HAPMAP-ASW 98IG0.653061210.34693879 0.438578000.826530640.17346939
HAPMAP-CHBAsian 82IG0.585365830.317073170.097560970.294266000.743902440.25609756
HAPMAP-CHD 170IG0.494117650.458823530.047058820.200325000.723529400.27647060
HAPMAP-GIH 176IG0.693181810.272727280.034090910.751830000.829545440.17045455
HAPMAP-LWK 178IG0.730337080.258426960.011235960.527089000.859550540.14044943
HAPMAP-MEX 98IG0.591836750.346938790.061224491.000000000.765306120.23469388
HAPMAP-MKK 286IG0.804195820.167832170.027972030.099721000.888111890.11188811
HAPMAP-TSI 176IG0.613636370.363636370.022727270.273322000.795454560.20454545
ss95216944S24 46AF 0.720000030.27999997
ss96306735J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.348+/-0.2300000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNYESYES

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