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Reference SNP (refSNP) Cluster Report: rs16891982                 ** With Benign ,other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/151
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/C/G (FWD)
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign ,other allele [ClinVar]
MAF/MinorAlleleCount:C=0.3597/43630 (ExAC)
G=0.2750/1377 (1000 Genomes)
C=0.3032/3943 (GO-ESP)
C=0.3929/49340 (TOPMED)
HGVS Names
  • CM000667.2:g.33951588C>A
  • CM000667.2:g.33951588C>G
  • NC_000005.10:g.33951588C=
  • NC_000005.10:g.33951588C>A
  • NC_000005.10:g.33951588C>G
  • NC_000005.9:g.33951693C=
  • NC_000005.9:g.33951693C>G
  • NG_011691.2:g.38088C=
  • NG_011691.2:g.38088C>G
  • NG_011691.2:g.38088C>T
  • NM_001012509.3:c.1122C=
  • NM_001012509.3:c.1122C>G
  • NM_001012509.3:c.1122C>T
  • NM_001297417.2:c.*64C=
  • NM_001297417.2:c.*64C>G
  • NM_001297417.2:c.*64C>T
  • NM_016180.4:c.1122C=
  • NM_016180.4:c.1122C>G
  • NM_016180.4:c.1122C>T
  • NP_001012527.1:p.Phe374=
  • NP_001012527.1:p.Phe374Leu
  • NP_057264.3:p.Phe374=
  • NP_057264.3:p.Phe374Leu
  • NT_187551.1:g.152910C=
  • NT_187551.1:g.152910C>A
  • NT_187551.1:g.152910C>G
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 ss285153617 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs16891982 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
ss23456916PERLEGEN|afd3693051byFreqfwd/BC/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt08/10/0409/13/04123Genomicunknown
ss28510204MGC_GENOME_DIFF|BC064405x37550355-C16403799Gfwd/BC/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt08/25/0408/25/04126cDNAunknown
ss44669869ABI|hCV2842665byFreqfwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt07/19/0511/03/06126Genomicunknown
ss68931899PERLEGEN|PGP03693051byFreqfwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt01/30/0703/31/08127Genomicunknown
ss74816457AFFY|SNP_M-312845fwd/BC/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt08/09/0708/09/07128Genomicunknown
ss74858559ILLUMINA|ILMN_Human_1M_rs16891982fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt08/28/0708/29/07129Genomicunknown
ss78414960HGSV|Cor12878_SNV_20070510.chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt10/17/0710/19/07129Genomicunknown
ss86270034CORNELL|hCV2842665byFreqfwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt01/21/0809/05/14129Genomicunknown
ss93054654BCMHGSC_JDW|JWB-1961143fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt02/26/0803/03/08129Genomicunknown
ss98610228HUMANGENOME_JCVI|1103654071247fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt04/01/0804/01/08130Genomicunknown
ss1089477551000GENOMES|CEU.trio.12.15.2008_1241468_chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt12/16/0812/16/08130Genomicunknown
ss143019484ENSEMBL|ENSSNP12812106fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt06/05/0906/05/09131Genomicunknown
ss143988735ENSEMBL|ENSSNP10011249fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt12/08/0810/17/09131Genomicunknown
ss153570135ILLUMINA|Human610_Quadv1_B_rs16891982-128_B_F_1513891273fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt06/18/0906/19/09131Genomicunknown
ss159296044ILLUMINA|Human660W-Quad_v1_A_rs16891982-128_B_F_1513891273fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt07/06/0907/06/09131Genomicunknown
ss159709227SEATTLESEQ|SLC45A2-33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt07/10/0907/10/09131Genomicunknown
ss162160738COMPLETE_GENOMICS|NA07022_36_chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt09/28/0909/28/09132Genomicunknown
ss166398089COMPLETE_GENOMICS|NA20431_36_chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt09/30/0909/30/09132Genomicunknown
ss172648543ILLUMINA|Human1M-Duov3_B_rs16891982-128_B_F_1513891273fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt10/01/0910/02/09132Genomicunknown
ss206963162BCM-HGSC-SUB|BCM_CMT_1011-1120318fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt03/15/1003/18/10132Genomicunknown
ss2328987021000GENOMES|pilot_1_CEU_2503331_chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt05/01/1005/01/10132Genomicunknown
ss244281104ILLUMINA|CVDSNP55v1_A_rs16891982fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt06/10/1006/10/10132Genomicunknown
ss253359461BL|SNP44231_5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt08/18/1008/18/10134Genomicunknown
ss275513746OMIM-CURATED-RECORDS|13652rev/C/Gaagaggagtcgaggttggatgttggggctttgcatcaactccgtgttttcctcactttat11/22/1011/22/10133Genomicunknown
ss285153617GMI|GMI_NA10851_SNP_1166390fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt12/17/1012/17/10138Genomicunknown
ss293564852PJP|SNP_3071210_chr5_33987450fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt01/21/1101/21/11134Genomicunknown
ss342179194NHLBI-ESP|ESP2500-chr5-33951693byFreqfwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt03/25/1109/05/14134Genomicunknown
ss410909706ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs16891982fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt06/07/1106/07/11135Genomicunknown
ss469414443PAGE_STUDY|PAGE_MEC_Y2_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc09/26/1109/26/11137Genomicunknown
ss469415108PAGE_STUDY|PAGE_WHI_Y2_rs16891982rev/C/Gaagaggagtcgaggttggatgttggggctttgcatcaactccgtgttttcctcactttat09/26/1109/26/11137Genomicunknown
ss4909015401000GENOMES|20110521_exome_409338_chr5_33951693fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt02/10/1202/21/12137Genomicunknown
ss491365273EXOME_CHIP|nonsyn_81500_chr_5_33951693fwd/C/Gataaagtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactcctctt03/05/1203/05/12137Genomicunknown
ss832808140ILLUMINA|Human660W-Quad_v1_C_rs16891982-131_B_F_1852928284fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc09/18/1307/02/15142Genomicunknown
ss833398970ILLUMINA|Human660W-Quad_v1_H_rs16891982-131_B_F_1852928284fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc09/18/1307/02/15142Genomicunknown
ss981430573EVA-GONL|EVA-GONL_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc04/23/1404/24/14142Genomicunknown
ss1067467357JMKIDD_LAB|HGDP_exomes_chr5_33951693fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc07/09/1407/09/14142Genomicunknown
ss1072530248JMKIDD_LAB|HGDP_WGS_chr5_33951693fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc07/10/1407/11/14142Genomicunknown
ss13145830401000GENOMES|PHASE3_V1_26301790fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc08/16/1408/16/14142Genomicunknown
ss1397409772HAMMER_LAB|HAMMER_LAB_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc09/30/1407/15/15146Genomicunknown
ss1430303032DDI|DDI_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc11/04/1411/05/14144Genomicunknown
ss1581086762EVA_GENOME_DK|EVA_GENOME_DK_snv_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc02/19/1502/20/15144Genomicunknown
ss1590953132EVA_DECODE|EVA_DECODE_5_33987450_283818_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc03/02/1503/03/15144Genomicunknown
ss1612627046EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_33951693_14554487fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc03/04/1503/04/15144Genomicunknown
ss1655621079EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_33951693_14554487fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc03/04/1503/04/15144Genomicunknown
ss1687774625EVA_EXAC|EVA_EXAC_2758438fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc03/04/1503/04/15144Genomicunknown
ss1711083763EVA_MGP|EVA_XIMO_199523fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc03/09/1503/09/15144Genomicunknown
ss1924692328WEILL_CORNELL_DGM|SNV:chr5:33951693fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc10/16/1510/17/15147Genomicunknown
ss1970059604GENOMED|rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc02/16/1602/16/16147Genomicunknown
ss2022948859JJLAB|SNP3451414fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc08/29/1608/30/16149Genomicunknown
ss2094818058ILLUMINA|Immuno_BeadChip_11419691_B_rs16891982-131_B_F_1852928284fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc09/27/1609/27/16150Genomicunknown
ss2151099537USC_VALOUEV|NC_000005.9:g.33951693C>Gfwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc11/17/1611/17/16150Genomicunknown
ss2272760733HUMAN_LONGEVITY|HLI-5-33951588-C-Gfwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc11/18/1611/18/16150Genomicunknown
ss2440792581TOPMED|5_33951693_C/Gfwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc11/20/1611/20/16150Genomicunknown
ss2635142577ILLUMINA|Cancer_BeadChip_11459870_A_rs16891982-128_B_F_1616888330fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc02/02/1702/02/17151Genomicunknown
ss2734944774GNOMAD|exomes_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/17/1705/17/17151Genomicunknown
ss2747368571GNOMAD|coding_rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/17/1705/17/17151Genomicunknown
ss2823086945GNOMAD|rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/18/1705/18/17151Genomicunknown
ss2985318709AFFY|Axiom_PsorMich_Affx-26469156fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/24/1705/24/17151Genomicunknown
ss2985949465AFFY|Axiom_Smokesc1_Affx-26469156fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/24/1705/24/17151Genomicunknown
ss2996714412SWEGEN|NC_000005.9:g.33951693C>Gfwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc05/30/1705/30/17151Genomicunknown
ss3025259923BIOINF_KMB_FNS_UNIBA|5.33951588C>Gfwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc07/05/1707/05/17151Genomicunknown
ss3346328181CSHL|rs16891982fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc10/02/1710/02/17151Genomicunknown
ss3460630384TOPMED|TOPMed_freeze_5?chr5:33,951,588-01fwd/A/Cgtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc10/04/1710/04/17151Genomicunknown
ss3460630385TOPMED|TOPMed_freeze_5?chr5:33,951,588-02fwd/C/Ggtgaggaaaacacggagttgatgcaaagccccaacatccaacctcgactc10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs16891982|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 CTCCTATAAC CCACCCAGTT ACACATCTGA GCTAAGGTCA TTTTGCATGC TGACTTTGTC
 ACCTGTCATA TTAATATTGC TTCTCTTCTG TATCATCTAC AAATCTGATA AGCCTATCTA
 TGAAATGCTA CCAATGATCT TGCTCCAGTA GAACACGAAC CTGCTGGGAC TCATCCATCC
 AACACTTCAT CTTGTAAAGA TTCCCTTTCA TTTTCCAGAG AAACTTGATC AGGAACCCAC
 TGATTCCAAG AGCAAAGTAA TCAGTGAGGA AATGACACCT AGAATTCATG ATGAAAAAAG
 GATGCTTTAT ATGGTCCTTT TTAAGGTGAT AGTTTTTCCT GACGTCCATA GATTTATTAA
 GAATCTGGTA TTTTAAACAG TAGGAAATAC ACATAGAAAT ATCAAATCCA AGTTGTGCTA
 GACCAGAAAC TTTTAGAAGA CATCCTTAGG AGAGAGAAAG ACTTACAAGA ATAAAGTGAG
 GAAAACACGG AGTTGATGCA
 V
 AAGCCCCAAC ATCCAACCTC GACTCCTCTT TCGTAGATGA GAAACTCTGT GGAGTTGTGT
 GCACTATAGG GATCCCCGCG GTACACAATC TGAAAGAGAG ATTGGAGGCT GTTGAGGTAC
 AAATGCAATG TAGTAAGAAC CCTTCTCATG CACTCTGCTT CTCCACCTCT GGGGAGCAAA
 TGTCCCTGCC TGAGGGACCC TTTCTAGAGT ACAGAGCTGA TGCTGTCATG ACCAAGTCGC
 ATCCTATCAC ATCTTCATTC AAGGACCTAT CAGAAATCTA ATGCTTGCTG CATCAGATCT
 CAACAACACT CTCTTGGATC CTTAACATTC CTCCTTCCAT CTCACAGCTG GCCCCACCTG
 ACTTAGGAAA TCCCACCACT CATCTTCTGC TACAGCCAAT CGGCTTCTGA CTCATCTCCA
 CATGGGCCAT TCCTGTTCCT GCTTGGAATG TTTTCTCCCT CTCTAATATT CCTCTAACTC
 CTACTCACCC TTCAAGGCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000005.8 ABBA01066761 BC064405
dbSNP Blast Analysis
UniGene Cluster ID
278962
OMIM
606202.0008

  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/G
G/G
HWPC
G
ss1314583040EAS 1008AF 0.994000020.00600000
EUR 1006AF 0.061600000.93839997
AFR 1322AF 0.964399990.03560000
AMR 694AF 0.536000010.46399999
SAS 978AF 0.940699990.05930000
ss143019484ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss143988735ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss162160738CEUEuropean 2IG 1.00000000 1.00000000
ss166398089PGP 2IG 1.00000000 1.00000000
ss1687774625ExAc_Aggregated_Populations121412AF 0.360022070.63997793
ss232898702pilot_1_CEU_low_coverage_panel 120AF 0.025000000.97500002
ss23456916AFD_EUR_PANELEuropean 48IG 1.00000000 1.00000000
AFD_AFR_PANELAfrican American 46IG0.826086940.17391305 1.000000000.913043500.08695652
AFD_CHN_PANELAsian 48IG1.00000000 1.00000000
ss342179194ESP_Cohort_Populations 4552GF0.269771520.171792610.558435860.001000000.355667830.64433217
ss44669869HapMap-CEUEuropean 116IG 0.034482760.965517221.000000000.017241380.98275864
HapMap-HCBAsian 88IG0.977272750.02272727 1.000000000.988636370.01136364
HapMap-JPTAsian 82IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 114IG1.00000000 1.00000000
ss86270034AGI_ASP_populationmultiple 74IG0.432432440.135135130.432432440.001000000.500000000.50000000
ss98610228J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict		Additional Freq. Data
0.461+/-0.1350000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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