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Reference SNP (refSNP) Cluster Report: rs10845294                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1975/23943 (ExAC)
C=0.1226/614 (1000 Genomes)
C=0.2150/2796 (GO-ESP)
C=0.2015/25308 (TOPMED)
HGVS Names
  • CM000674.2:g.11030687G>C
  • NC_000012.11:g.11183286G>C
  • NC_000012.12:g.11030687G>C
  • NM_001291314.1:c.-126+16333C>G
  • NM_001291315.1:c.36+16333C>G
  • NM_001316893.1:c.140+4095C>G
  • NM_176885.2:c.649C>G
  • NP_795366.2:p.Gln217Glu
  • NR_037918.2:n.477+4095C>G
  • NR_133575.1:n.371+16333C>G
  • NT_187658.1:g.229692G>C
  • NW_003571047.1:g.229703G>C
  • NW_003571050.1:g.229393G>C
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 ss40237645 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10845294 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
ss15816881SC_SNP|NT_009714.16_3942260fwd/TC/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt11/17/0311/22/03120Genomicunknown
ss18786286SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3942260fwd/TC/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt02/20/0403/04/04120Genomicunknown
ss18997858SC_SNP|SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_3942260fwd/TC/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt02/20/0403/04/04120Genomicunknown
ss40237645ABI|hCV26575248fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt07/16/0507/16/05126Genomicunknown
ss77494452HGSV|Cor12156_SNV_20070510.chr12_11074553fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt10/09/0710/13/07129Genomicunknown
ss208446965BCM-HGSC-SUB|BCM_CMT_1011-2443958fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt03/15/1003/19/10132Genomicunknown
ss291379935PJP|SNP_886293_chr12_11074553fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt01/21/1101/21/11134Genomicunknown
ss3371555101000GENOMES|20100804_snps_8799051_chr12_11183286fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt03/22/1103/22/11134Genomicunknown
ss491464413EXOME_CHIP|nonsyn_180639_chr_12_11183286fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt03/05/1203/05/12137Genomicunknown
ss491660684CLINSEQ_SNP|SNV-chr12-11074553byFreqfwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc03/06/1209/05/14137Genomicunknown
ss562992461TISHKOFF|snp_chr12_11183286fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc11/22/1211/23/12138Genomicunknown
ss713077242NHLBI-ESP|ESP6500SI-chr12-11183286fwd/C/Gcttttatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatcttctt02/20/1302/20/13138Genomicunknown
ss989237687EVA-GONL|EVA-GONL_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc04/23/1404/25/14142Genomicunknown
ss1067531736JMKIDD_LAB|HGDP_exomes_chr12_11183286fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc07/09/1407/09/14142Genomicunknown
ss13439107571000GENOMES|PHASE3_V1_56826466fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc08/16/1408/16/14142Genomicunknown
ss1426843783DDI|DDI_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc11/04/1411/04/14144Genomicunknown
ss1576113125EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc02/19/1502/19/15144Genomicunknown
ss1598906943EVA_DECODE|EVA_DECODE_12_11074553_86364_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc03/02/1503/04/15144Genomicunknown
ss1690795676EVA_EXAC|EVA_EXAC_6012917fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc03/04/1503/04/15144Genomicunknown
ss1711321275EVA_MGP|EVA_XIMO_437035fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc03/09/1503/09/15144Genomicunknown
ss1932603242WEILL_CORNELL_DGM|SNV:chr12:11183286fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc10/16/1510/17/15147Genomicunknown
ss1967522688GENOMED|rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc02/16/1602/16/16147Genomicunknown
ss2027046181JJLAB|SNP7548736fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc08/29/1608/30/16149Genomicunknown
ss2155369205USC_VALOUEV|NC_000012.11:g.11183286G>Cfwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc11/17/1611/17/16150Genomicunknown
ss2351409891TOPMED|12_11183286_G/Cfwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc11/19/1611/19/16150Genomicunknown
ss2739639893GNOMAD|exomes_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc05/17/1705/17/17151Genomicunknown
ss2748815512GNOMAD|coding_rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc05/17/1705/17/17151Genomicunknown
ss2907335208GNOMAD|rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc05/22/1705/22/17151Genomicunknown
ss3009205200SWEGEN|NC_000012.11:g.11183286G>Cfwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc05/30/1705/30/17151Genomicunknown
ss3162937659TOPMED|TOPMed_freeze_5?chr12:11,030,687fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc09/30/1709/30/17151Genomicunknown
ss3349923539CSHL|rs10845294fwd/C/Gatgtggaccttggtgctgggatcttagatcctttaccatggagctgcatc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10845294|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 CAATGCCCCT CTCATGAATC TATGGAGATG AAGGCTTCTC TCCTTTCACC CAGTACCTCA
 CTTGCCGCAA AACTGAAAGA AAAGTCTGCT TTAGCTTCTT GTTTCCCCAA ATCAGGATGA
 ATGGGTGGAT TGAAGGATAG CTGAATCTAA TAGCTTTGCA GAACATGAAG ACAGGTTTGT
 TTTCCAGACT CCCAAAACTC CAAACTGATA TCATTATGGA CAGAAAGTAA ACGGCACATA
 ACAAGAGGAA AAAGATCACA GTTTGCAAAG CTTTTATGTG GACCTTGGTG CTGGGATCTT
 S
 AGATCCTTTA CCATGGAGCT GCATCTTCTT GAGATGTTTA CACAGAGAAC AGATTAACAG
 CAAAAAACAT AGCAGGGTCA GAGTGAAGGG CACTAAGTTT CCTAGCGTGG TTACAGTCGC
 ATCTGAAAGG TACACTGCAC TCCTCAATTT GATCTTCCAA GTCATGTTTC CTTCATATTC
 TTTTGTCCGT ACAATCTCTT TCATGTTTAT CACAAAAAGT TGACAAGCCA AAAATAGTAA
 AGGCCCCAAC AGCATCACCA GAATGACACT CTTAACTCTC CTCTTTAAGT GAAGAAAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714
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.
SourceC/G
G/G
HWPC
G
ss1343910757EAS 1008AF 1.00000000
EUR 1006AF 0.273400010.72659999
AFR 1322AF 0.105100000.89489996
AMR 694AF 0.216100010.78390002
SAS 978AF 0.051100000.94889998
ss1690795676ExAc_Aggregated_Populations121410AF 0.197413730.80258626
ss40237645ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss491660684CSAgilent 533GF0.345000000.654999970.099721000.172500000.82749999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.317+/-0.2410000

  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

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