NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs10845293                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
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=0.4402/53392 (ExAC)
A=0.3498/1752 (1000 Genomes)
A=0.4576/5951 (GO-ESP)
A=0.4487/56337 (TOPMED)
HGVS Names
  • CM000674.2:g.11030656G>A
  • NC_000012.11:g.11183255G>A
  • NC_000012.12:g.11030656G>A
  • NM_001291314.1:c.-126+16364C>T
  • NM_001291315.1:c.36+16364C>T
  • NM_001316893.1:c.140+4126C>T
  • NM_176885.2:c.680C>T
  • NP_795366.2:p.Ala227Val
  • NR_037918.2:n.477+4126C>T
  • NR_133575.1:n.371+16364C>T
  • NT_187658.1:g.229661A=
  • NT_187658.1:g.229661A>G
  • NW_003571047.1:g.229672A=
  • NW_003571047.1:g.229672A>G
  • NW_003571050.1:g.229362G>A
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 ss281274422 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10845293 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
ss15919801SC_SNP|NT_009714.16_3942229fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt11/17/0311/22/03120Genomicunknown
ss18786269SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3942229fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt02/20/0403/04/04120Genomicunknown
ss18997844SC_SNP|SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_3942229fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt02/20/0403/04/04120Genomicunknown
ss40159367ABI|hCV26575247byFreqfwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt07/16/0511/02/06126Genomicunknown
ss69100754PERLEGEN|PGP13416966byFreqfwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt01/30/0703/31/08127Genomicunknown
ss74810808AFFY|SNP_M-184513fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt08/09/0708/09/07128Genomicunknown
ss77811204HGSV|Cor12156_SNV_20070510.chr12_11074522fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt10/09/0710/14/07129Genomicunknown
ss88967443BCMHGSC_JDW|JWB-0518984fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt02/26/0802/28/08129Genomicunknown
ss97286421HUMANGENOME_JCVI|1103649367276fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt03/28/0803/28/08130Genomicunknown
ss132063418ENSEMBL|ENSSNP667371byFreqfwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt12/08/0803/07/10131Genomicunknown
ss132999376ENSEMBL|ENSSNP10552360fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt05/11/0905/14/09131Genomicunknown
ss170402398COMPLETE_GENOMICS|NA20431_36_chr12_11074522fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt10/01/0910/05/09132Genomicunknown
ss203547291BUSHMAN|BUSHMAN-chr12-11074521fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt02/16/1003/09/10132Genomicunknown
ss208357892BCM-HGSC-SUB|BCM_CMT_1011-2414001fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt03/15/1003/19/10132Genomicunknown
ss254880061BL|SNP15337_12_11074522fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt08/19/1008/19/10134Genomicunknown
ss281274422GMI|GMI_AK_SNP_5594811fwd/A/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt12/16/1012/16/10137Genomicunknown
ss291379934PJP|SNP_886292_chr12_11074522fwd/A/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt01/21/1101/21/11134Genomicunknown
ss3371555071000GENOMES|20100804_snps_8799048_chr12_11183255fwd/A/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt03/22/1103/22/11134Genomicunknown
ss491464411EXOME_CHIP|nonsyn_180637_chr_12_11183255fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt03/05/1203/05/12137Genomicunknown
ss491660683CLINSEQ_SNP|SNV-chr12-11074522byFreqfwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg03/06/1209/05/14137Genomicunknown
ss658524094SSMP|12_11183255fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg12/14/1202/13/15138Genomicunknown
ss713077240NHLBI-ESP|ESP6500SI-chr12-11183255fwd/TA/Gaacaagaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctgggatctt02/20/1302/20/13138Genomicunknown
ss989237686EVA-GONL|EVA-GONL_rs10845293fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg04/23/1404/25/14142Genomicunknown
ss1067531735JMKIDD_LAB|HGDP_exomes_chr12_11183255fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg07/09/1407/09/14142Genomicunknown
ss1078246331JMKIDD_LAB|HGDP_WGS_chr12_11183255fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg07/10/1407/12/14142Genomicunknown
ss13439107551000GENOMES|PHASE3_V1_56826464fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg08/16/1408/16/14142Genomicunknown
ss1426843782DDI|DDI_rs10845293fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg11/04/1411/04/14144Genomicunknown
ss1576113123EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10845293fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg02/19/1502/19/15144Genomicunknown
ss1584080377EVA_FINRISK|EVA_FINRISK_rs10845293fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg02/27/1502/27/15144Genomicunknown
ss1690795669EVA_EXAC|EVA_EXAC_6012909fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg03/04/1503/04/15144Genomicunknown
ss1711321274EVA_MGP|EVA_XIMO_437034fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg03/09/1503/09/15144Genomicunknown
ss1807120097HAMMER_LAB|Hsieh_6140954fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg07/15/1507/16/15146Genomicunknown
ss1932603241WEILL_CORNELL_DGM|SNV:chr12:11183255fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg10/16/1510/17/15147Genomicunknown
ss2027046180JJLAB|SNP7548735fwd/TA/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg08/29/1608/30/16149Genomicunknown
ss2155369204USC_VALOUEV|NC_000012.11:g.11183255G>Afwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg11/17/1611/17/16150Genomicunknown
ss2351409889TOPMED|12_11183255_G/Afwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg11/19/1611/19/16150Genomicunknown
ss2628001924SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4796011fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg01/06/1701/06/17151Genomicunknown
ss2699694296GRF|rs10845293fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg02/13/1702/13/17151Genomicunknown
ss2739639885GNOMAD|exomes_rs10845293fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg05/17/1705/17/17151Genomicunknown
ss2748815507GNOMAD|coding_rs10845293fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg05/17/1705/17/17151Genomicunknown
ss2907335203GNOMAD|rs10845293fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg05/22/1705/22/17151Genomicunknown
ss3009205198SWEGEN|NC_000012.11:g.11183255G>Afwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg05/30/1705/30/17151Genomicunknown
ss3023067446EVA_SAMSUNG_MC|EXOMES.12:g11183255g>afwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg07/03/1707/03/17151Genomicunknown
ss3027327808BIOINF_KMB_FNS_UNIBA|12.11030656G>Afwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg07/05/1707/05/17151Genomicunknown
ss3162937651TOPMED|TOPMed_freeze_5?chr12:11,030,656fwd/A/Ggaggaaaaagatcacagtttgcaaacttttatgtggaccttggtgctggg09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10845293|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GGCAGTTTGT ATGAAAAAAA CAGAAAAGAG CATGTTATTG TCAATGTTCT TAAGTTTTCA
 TACACACATA AACACACACA TATATATATT TTTTTTTCTA GACTAATATT AGGTCAAAGG
 CTTTTCTAGG TATACGTTGG GAAATTATTC ATACACATAC AGTATAGAAA AACCAGTAAG
 AAATATAAAA TGTTTCATAC ACCACCAGTT TGTTTTCTGC TAGAAGACAC ACAATGCCCC
 TCTCATGAAT CTATGGAGAT GAAGGCTTCT CTCCTTTCAC CCAGTACCTC ACTTGCCGCA
 AAACTGAAAG AAAAGTCTGC TTTAGCTTCT TGTTTCCCCA AATCAGGATG AATGGGTGGA
 TTGAAGGATA GCTGAATCTA ATAGCTTTGC AGAACATGAA GACAGGTTTG TTTTCCAGAC
 TCCCAAAACT CCAAACTGAT ATCATTATGG ACAGAAAGTA AACGGCACAT AACAAGAGGA
 AAAAGATCAC AGTTTGCAAA
 R
 CTTTTATGTG GACCTTGGTG CTGGGATCTT GAGATCCTTT ACCATGGAGC TGCATCTTCT
 TGAGATGTTT ACACAGAGAA CAGATTAACA GCAAAAAACA TAGCAGGGTC AGAGTGAAGG
 GCACTAAGTT TCCTAGCGTG GTTACAGTCG CATCTGAAAG GTACACTGCA CTCCTCAATT
 TGATCTTCCA AGTCAAGTTT CCTTCATATT CTTTTGTCCG TACAATCTCT TTCATGTTTA
 TCACAAAAAG TTGACAAGCC AAAAATAGTA AAGGCCCCAA CAGCATCACC AGAATGACAC
 TCTTAACTCT CCTCTTTAAG TGAAGAAAAA TAAGGTTGGA GAAATTGGCA ATCTTGAGCA
 AATAAAATAT GCTGAGGCTA GTAGCAAGCC AGTTGCTGAA ATGGCCGGTT ACTGCCCAGA
 CATTATAAGC AGTAGTTCTT ACTTCTACAC TATAAAAAGC TGGATTAAAC ACAGTTGAAT
 ACCAATTTAA TAATAATACC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
553663

  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
ss132063418ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 6IG0.66666669 0.33333334 0.666666690.33333334
ss132999376ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1343910755EAS 1008AF 0.194400000.80559999
EUR 1006AF 0.505000000.49500000
AFR 1322AF 0.359299990.64069998
AMR 694AF 0.463999990.53600001
SAS 978AF 0.256599990.74340004
ss1690795669ExAc_Aggregated_Populations121406AF 0.440011200.55998880
ss170402398PGP 2IG 1.00000000 0.500000000.50000000
ss40159367HapMap-CEUEuropean 120IG0.250000000.516666650.233333331.000000000.508333330.49166667
HapMap-HCBAsian 90IG0.044444450.355555560.600000021.000000000.222222220.77777779
HapMap-JPTAsian 88IG0.022727270.318181810.659090940.654721000.181818190.81818181
HapMap-YRISub-Saharan African 118IG0.084745760.576271180.338983060.099721000.372881350.62711865
ss491660683CSAgilent 543GF0.206000000.507000030.287000000.751830000.459499980.54049999
ss97286421J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.493+/-0.0590000

  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
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement