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dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs55694638                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3247/1626 (1000 Genomes)
T=0.2603/32680 (TOPMED)
HGVS Names
  • CM000678.2:g.87842569C>T
  • NC_000016.10:g.87842569C>T
  • NC_000016.9:g.87876175C>T
  • NM_003486.6:c.665-1414G>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 ss282649086 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs55694638 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
ss77194581HGSV|Cor12156_SNV_20070510.chr16_86433676fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct10/09/0710/11/07129Genomicunknown
ss81983699HGSV|Cor18956_SNV_20070510.chr16_86433676fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct11/30/0712/01/07130Genomicunknown
ss106491056BGI|BGI_YHSNP0097666fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct09/15/0806/18/09130Genomicunknown
ss1095633111000GENOMES|CEU.trio.12.15.2008_3349619_chr16_86433676fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct12/16/0812/16/08130Genomicunknown
ss152536498ILLUMINA|Human610_Quadv1_B_500694-0_B_F_1526882062fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct06/18/0906/19/09131Genomicunknown
ss157711265GMI|GMI_SNP_38991992fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct06/24/0906/25/09131Genomicunknown
ss159102650ILLUMINA|Human660W-Quad_v1_A_500694-0_B_F_1526882062fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct07/06/0907/06/09131Genomicunknown
ss159846009ILLUMINA|HumanOmni1-Quad_v1-0_B_500694-0_B_F_1526882062fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct08/04/0910/01/09131Genomicunknown
ss168871152ILLUMINA|Human1M-Duov3_B_500694-0_B_F_1526882062fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct10/01/0910/01/09132Genomicunknown
ss2274088571000GENOMES|pilot_1_YRI_9218540_chr16_86433676fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct04/22/1004/22/10132Genomicunknown
ss2371436831000GENOMES|pilot_1_CEU_6748312_chr16_86433676fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct05/01/1005/01/10132Genomicunknown
ss2434610381000GENOMES|pilot_1_CHB+JPT_5346115_chr16_86433676fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct05/01/1005/01/10132Genomicunknown
ss255876279BL|SNP102263_16_86433676fwd/BC/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct08/20/1008/20/10134Genomicunknown
ss282649086GMI|GMI_AK_SNP_6969503fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct12/16/1012/16/10137Genomicunknown
ss287127952GMI|GMI_NA10851_SNP_3140743fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct12/17/1012/17/10138Genomicunknown
ss291901809PJP|SNP_1408167_chr16_86433676fwd/C/Ttgggtggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctgcggct01/21/1101/21/11134Genomicunknown
ss479154469ILLUMINA|HumanOmni1-Quad_v1-0_C_500694-0_B_F_1853042910fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg01/30/1208/28/15146Genomicunknown
ss532729398ILLUMINA|HumanOmni5-4v1_B_500694-0_B_F_1853042910fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg06/22/1208/29/15146Genomicunknown
ss565098739TISHKOFF|snp_chr16_87876175fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg11/22/1211/23/12138Genomicunknown
ss660876306SSMP|16_87876175fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg12/14/1202/14/15138Genomicunknown
ss832615446ILLUMINA|Human660W-Quad_v1_C_500694-0_B_F_1853042910fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg09/18/1307/02/15142Genomicunknown
ss833206135ILLUMINA|Human660W-Quad_v1_H_500694-0_B_F_1853042910fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg09/18/1307/02/15142Genomicunknown
ss992808481EVA-GONL|EVA-GONL_rs55694638fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg04/23/1404/30/14142Genomicunknown
ss1080856160JMKIDD_LAB|HGDP_WGS_chr16_87876175fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg07/10/1407/12/14142Genomicunknown
ss13574704961000GENOMES|PHASE3_V1_70953290fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg08/16/1408/16/14142Genomicunknown
ss1578043680EVA_GENOME_DK|EVA_GENOME_DK_snv_rs55694638fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg02/19/1502/19/15144Genomicunknown
ss1635079282EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_16_87876175_39212236fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg03/04/1503/04/15144Genomicunknown
ss1678073315EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_16_87876175_39212236fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg03/04/1503/04/15144Genomicunknown
ss1696851074EVA_DECODE|EVA_DECODE_16_86433676_645368_rs55694638fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg03/02/1503/04/15144Genomicunknown
ss1808653094HAMMER_LAB|Hsieh_7680085fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg07/15/1507/16/15146Genomicunknown
ss1936246778WEILL_CORNELL_DGM|SNV:chr16:87876175fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg10/16/1510/19/15147Genomicunknown
ss1968330214GENOMED|rs55694638fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg02/16/1602/16/16147Genomicunknown
ss2028915004JJLAB|SNP9417559fwd/BC/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg08/29/1608/31/16149Genomicunknown
ss2157353728USC_VALOUEV|NC_000016.9:g.87876175C>Tfwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg11/17/1611/17/16150Genomicunknown
ss2214667892HUMAN_LONGEVITY|HLI-16-87842569-C-Tfwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg11/18/1611/18/16150Genomicunknown
ss2628947475SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6002206fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg01/06/1701/06/17151Genomicunknown
ss2701889837GRF|rs55694638fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg02/13/1702/13/17151Genomicunknown
ss2946446756GNOMAD|rs55694638fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg05/23/1705/23/17151Genomicunknown
ss3015004599SWEGEN|NC_000016.9:g.87876175C>Tfwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg05/30/1705/30/17151Genomicunknown
ss3028275552BIOINF_KMB_FNS_UNIBA|16.87842569C>Tfwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg07/05/1707/05/17151Genomicunknown
ss3351595172CSHL|rs55694638fwd/C/Tggacccagttcctgttttgcacctgttccccgtggcgtgctggatgcctg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs55694638|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ACAGACCACT GCGCTTCAGG AAGGAGAACT TGGAAAGAAG ACCAAAGACA CCACCGGAAC
 AAAGGAGCCG GGTCCCCTCC TGCCTACCTG CCAGGTGCAT ATACAGCTGG AGGCACAAGT
 GGAAATCTTG GTCAGGCTGT GGACTGTTAG TTCATTAGAG AACCGTGTGT GACAGTATCC
 TTCCTGCTGG AAAGTCACCA GCCCGTCTCA CAGGGCCAGG CAGGGACGGG CCCTGGGGCT
 GCTGTGTCCC AACATGTGGC CTTGGACCAC AGGTCACCAT GGGGGCCCAA GAAGGGGAAC
 CACCTTGGTG GTCCAGGGAA CACCGCAGAG TGACGAGGTG AGCAAATTTC AAAGGGGACC
 CGTGAAGGGA GGTTCCCATA AGACCTTGGC AATTACCCCA AACAAAGTGC GCACTTCAAA
 GGTGGCACCA GATTTCCTAC GGCAGAGCCC ACGGTGGGGT CCCTTCCTGA TGGGTGGACC
 CAGTTCCTGT TTTGCACCTG
 Y
 TTCCCCGTGG CGTGCTGGAT GCCTGCGGCT CTGCCTCCAG CTCTGTCTGT CCCAGATGCC
 AGGTGTGCTG GGGCCTTTGA TCTTCAGCCT ACACTGGGGG TGCTGGTGGG TTCCCTGAGG
 GCTGCCCGCC ACCCTGCCCT GCTGAGGCCT TGATCTCCTG AGAAGGAGCT CCAGGGCCCA
 CTGCCTGCGT GTGATGTATT CTGGTCACCA GGTGGTCAGC AGGCGGAGCT TGACTCTGCA
 GGCCTGGAGC GGGGGCAGCT CAGAGCAGCT CAGGACAGGG CACTTTGCAC AGCACCTCGG
 CACAGCCCCT CTGGCCTCTC TCCCATCTGC TCTCTGATGG AATGTTCTGG AATGTGCAGA
 CCCTTCACAT CTGCATAGCC CTACTGTGTC TCGCCCACTT ACTTCTGCTG GGGGGAGCAT
 CTGTCCTACA AGTGGGGGAA TGCAGACCTG CCAGGCTGCT TGAGAATCAA GGTCCTGCCT
 CCCCCATCTG GCACTCATGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1357470496EAS 1008AF 0.349199980.65079999
EUR 1006AF 0.731600050.26840001
AFR 1322AF 0.880500020.11950000
AMR 694AF 0.559100030.44090000
SAS 978AF 0.758700010.24129999
ss227408857pilot_1_YRI_low_coverage_panel 118AF 0.898305060.10169491
ss237143683pilot_1_CEU_low_coverage_panel 120AF 0.658333360.34166667
ss243461038pilot_1_CHB+JPT_low_coverage_panel 120AF 0.324999990.67500001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.439+/-0.1640000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN