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Reference SNP (refSNP) Cluster Report: rs11645428                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1556/779 (1000 Genomes)
A=0.2477/31109 (TOPMED)
HGVS Names
  • CM000678.2:g.81225291G>A
  • NC_000016.10:g.81225291G>A
  • NC_000016.9:g.81258896G>A
  • NG_033236.1:g.80C>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 ss16715604 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11645428 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
ss16715604CSHL-HAPMAP|CSHL-HuAA-200402.chr16.NT_024797.14_7970587byFreqfwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt02/17/0405/17/04120Genomicunknown
ss66069228AFFY|SNP_A-1879675byFreqrev/BC/Ttcttcaggagtcagggattgattcaccaattc10/27/0603/31/08127Genomicunknown
ss66733255ILLUMINA|HumanHap300v1.1_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt11/09/0611/09/06127Genomicunknown
ss66940161ILLUMINA|HumanHap550v1.1_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt11/14/0611/14/06127Genomicunknown
ss67101309ILLUMINA|HumanHap650Yv1.0_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt11/14/0611/14/06127Genomicunknown
ss69351261PERLEGEN|PGP04856235byFreqfwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt01/30/0703/31/08127Genomicunknown
ss70396285ILLUMINA|HumanHap300v2.0_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt04/18/0711/18/07127Genomicunknown
ss70534170ILLUMINA|HumanHap550v3.0__rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt04/20/0703/30/08130Genomicunknown
ss71065299ILLUMINA|HumanHap650Yv3.0_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt04/23/0704/23/07127Genomicunknown
ss75685700ILLUMINA|ILMN_Human_1M_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt08/28/0708/29/07129Genomicunknown
ss75996918AFFY|AFFY_6_1M_SNP_A-1879675byFreqrev/BC/Ttcttcaggagtcagggattgattcaccaattc08/28/0703/07/10129Genomicunknown
ss78317196HGSV|Cor12878_SNV_20070510.chr16_79816397fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt10/17/0710/18/07129Genomicunknown
ss85112363KRIBB_YJKIM|KHS902334fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt12/04/0712/08/07130Genomicunknown
ss90466936BCMHGSC_JDW|JWB-0975066fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt02/26/0802/29/08129Genomicunknown
ss121485553ILLUMINA|HumanCNV370v1_C_rs11645428fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt04/14/0904/14/09131Genomicunknown
ss153017489ILLUMINA|Human610_Quadv1_B_rs11645428-127_T_F_1501630075fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt06/18/0906/19/09131Genomicunknown
ss159180913ILLUMINA|Human660W-Quad_v1_A_rs11645428-128_T_F_1501630075fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt07/06/0907/06/09131Genomicunknown
ss161809190ENSEMBL|ENSSNP1269085fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt09/24/0909/25/09131Genomicunknown
ss168559040COMPLETE_GENOMICS|NA07022_36_chr16_79816397fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt09/30/0910/01/09132Genomicunknown
ss169901922ILLUMINA|HumanCNV370-Quadv3_C_rs11645428-127_T_F_1501630075fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt10/01/0910/02/09132Genomicunknown
ss170180852AFFY|GenomeWideSNP_5_SNP_A-1879675rev/BC/Ttcttcaggagtcagggattgattcaccaattc10/01/0910/01/09132Genomicunknown
ss171382672ILLUMINA|Human1M-Duov3_B_rs11645428-127_T_F_1501630075fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt10/01/0910/01/09132Genomicunknown
ss171583856COMPLETE_GENOMICS|NA20431_36_chr16_79816397fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt10/01/0910/01/09132Genomicunknown
ss207568312BCM-HGSC-SUB|BCM_CMT_1011-2822193fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt03/15/1003/19/10132Genomicunknown
ss2109017121000GENOMES|CEU.trio.3.2010_148484_chr16_79816397fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt03/29/1003/29/10132Genomicunknown
ss2273623611000GENOMES|pilot_1_YRI_9172044_chr16_79816397fwd/A/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt04/22/1004/22/10132Genomicunknown
ss2371111331000GENOMES|pilot_1_CEU_6715762_chr16_79816397fwd/A/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt05/01/1005/01/10132Genomicunknown
ss255840341BL|SNP89649_16_79816397fwd/TA/Gaccttgactgagcagaattggtgaatcaatccctgactcctgaagataactctgaggcgt08/20/1008/20/10134Genomicunknown
ss469414416PAGE_STUDY|PAGE_MEC_Y2_rs11645428fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga09/26/1109/26/11137Genomicunknown
ss479303089ILLUMINA|HumanOmni2.5-4v1_D_kgp10406771-0_T_F_1801918003fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga01/30/1210/27/16137Genomicunknown
ss483563848ILLUMINA|HumanOmni2.5-4v1_B_SNP16-79816397-0_T_F_1622897390fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga01/30/1210/28/16137Genomicunknown
ss532876272ILLUMINA|HumanOmni5-4v1_B_kgp10406771-0_T_F_1801918003fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga06/22/1208/29/15146Genomicunknown
ss565045840TISHKOFF|snp_chr16_81258896fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga11/22/1211/23/12138Genomicunknown
ss660825251SSMP|16_81258896fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga12/14/1202/14/15138Genomicunknown
ss779561504ILLUMINA|HumanOmni25Exome-8v1_A_kgp10406771-0_T_F_1801918003fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga05/30/1307/10/15146Genomicunknown
ss780947853ILLUMINA|HumanOmni2.5-4v1_H_kgp10406771-0_T_F_1801918003fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga05/30/1307/29/15146Genomicunknown
ss825365680ILLUMINA|HumanCNV370v1_C_rs11645428-120_T_F_IFB1136169373:0fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga06/24/1311/21/14144Genomicunknown
ss835032646ILLUMINA|HumanOmni2.5-8v1_A_kgp10406771-0_T_F_1801918003fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga09/18/1307/29/15146Genomicunknown
ss992729980EVA-GONL|EVA-GONL_rs11645428fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga04/23/1404/30/14142Genomicunknown
ss1080796686JMKIDD_LAB|HGDP_WGS_chr16_81258896fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga07/10/1407/12/14142Genomicunknown
ss13571707311000GENOMES|PHASE3_V1_70644420fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga08/16/1408/16/14142Genomicunknown
ss1397722017HAMMER_LAB|HAMMER_LAB_rs11645428fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga09/30/1409/30/14146Genomicunknown
ss1578009770EVA_GENOME_DK|EVA_GENOME_DK_snv_rs11645428fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga02/19/1502/19/15144Genomicunknown
ss1634918441EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_16_81258896_39039617fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga03/04/1503/04/15144Genomicunknown
ss1677912474EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_16_81258896_39039617fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga03/04/1503/04/15144Genomicunknown
ss1713556084EVA_SVP|EVA_SVP_1250451fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga03/12/1503/12/15144Genomicunknown
ss1936162027WEILL_CORNELL_DGM|SNV:chr16:81258896fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga10/16/1510/19/15147Genomicunknown
ss2028869685JJLAB|SNP9372240fwd/TA/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga08/29/1608/31/16149Genomicunknown
ss2157309457USC_VALOUEV|NC_000016.9:g.81258896G>Afwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga11/17/1611/17/16150Genomicunknown
ss2214064744HUMAN_LONGEVITY|HLI-16-81225291-G-Afwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga11/18/1611/18/16150Genomicunknown
ss2378839164TOPMED|16_81258896_G/Afwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga11/19/1611/19/16150Genomicunknown
ss2633347580ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp10406771-0_T_F_18019180fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga02/02/1702/02/17151Genomicunknown
ss2635066229ILLUMINA|Cancer_BeadChip_11459870_A_rs11645428-128_T_F_1782913730fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga02/02/1702/02/17151Genomicunknown
ss2945655440GNOMAD|rs11645428fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga05/23/1705/23/17151Genomicunknown
ss3014888965SWEGEN|NC_000016.9:g.81258896G>Afwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga05/30/1705/30/17151Genomicunknown
ss3028251683BIOINF_KMB_FNS_UNIBA|16.81225291G>Afwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga07/05/1707/05/17151Genomicunknown
ss3252637593TOPMED|TOPMed_freeze_5?chr16:81,225,291fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga10/01/1710/01/17151Genomicunknown
ss3351556882CSHL|rs11645428fwd/A/Ggactgagcagaattggtgaatcaatccctgactcctgaagataactctga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11645428|allelePos=294|totalLen=794|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TTGCTAAATC AGTCCCATAT TGCTGGACAG GTCATGTGGA TTTTAGTCAT CTGTTTCTCA
 TTTCTCAACA CAACTTTGAA CATCTTCTTG CATGCATGCT TTAGCCTGGG CTGAGTTATC
 TCTTGAGGAT TGTAGCAGAC ACTATCAGTG CTCACCCTAA CCCACACACC TGCCATGCAG
 ACATCTGTGG CTCTGCCTCC CTCTGCATAT GTGCgacagg atggaagtgc ctggaagtta
 gcacctctca ggagaaactc tcaaccttga ctgagcagaa ttggtgaatc aat
 R
 ccctgactcc tgaagataac tctgaggcgt gttcccaccg gctccaggag atccccagcc
 agactgagtt tcagttgctc atgatggtga taggcttgag aatgtattgt taacatcttt
 tctcctcctt tatcttaggt cctcattccc ctgctgttat ttcctaggtt caAATCttag
 gcttctccag agaaacagaa tcaataggag atagacagat caatagacac agatagatag
 atagatgCat agatacgtag acacatagac agatgaatag atagatggat aTTATAATAA
 Taaaaaaaga aaatcaataa ataaagcaaa aaaaaaaaaa aaaaaaaaaa aCCAGagcca
 ggcacggtgg ctcacacgtg taatcccagc actttgggag gccgaggcag gtggatcacc
 tgaggtcagg agtttggaac cagcctgacc aaaatggtga aaccccatat ctacaaaaat
 acaaaaatta gcagggcatg

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024797
dbSNP Blast Analysis
OMIM
115300

  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.
SourceA/A
A/G
G/G
HWPA
G
ss1357170731EAS 1008AF 0.007900000.99210000
EUR 1006AF 0.362800000.63720000
AFR 1322AF 0.077900000.92210001
AMR 694AF 0.217600000.78240001
SAS 978AF 0.155400010.84460002
ss161809190ENSEMBL_celera 2IG1.00000000 1.00000000
ss16715604HapMap-CEUEuropean 226IG0.106194690.407079640.486725660.654721000.309734520.69026548
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 226IG 0.115044250.884955761.000000000.057522130.94247788
HAPMAP-ASW 98IG 0.163265300.836734711.000000000.081632650.91836733
HAPMAP-CHD 170IG 0.023529410.976470591.000000000.011764710.98823529
HAPMAP-GIH 176IG0.011363640.261363630.727272750.527089000.142045450.85795456
HAPMAP-LWK 178IG0.011235960.089887640.898876430.200325000.056179780.94382024
HAPMAP-MEX 100IG0.020000000.380000000.600000020.317310000.209999990.79000002
HAPMAP-MKK 286IG0.006993010.237762240.755244730.342782000.125874130.87412590
HAPMAP-TSI 176IG0.227272730.534090940.238636360.527089000.494318190.50568181
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss168559040CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss171583856PGP 2IG 1.00000000 0.500000000.50000000
ss227362361pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss237111133pilot_1_CEU_low_coverage_panel 120AF 0.300000010.69999999
ss66069228HapMap-CEUEuropean 118IG0.135593220.423728820.440677970.654721000.347457620.65254235
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 0.150000010.850000021.000000000.075000000.92500001
ss69351261HapMap-CEUEuropean 120IG0.133333340.433333340.433333340.751830000.349999990.64999998
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 0.150000010.850000021.000000000.075000000.92500001
ss75996918ICMHP 6IG0.33333334 0.66666669 0.333333340.66666669

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.263+/-0.2500000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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