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Reference SNP (refSNP) Cluster Report: rs145976111                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:T=0.0028/335 (ExAC)
T=0.0014/7 (1000 Genomes)
T=0.0027/35 (GO-ESP)
T=0.0022/276 (TOPMED)
HGVS Names
  • CM000679.2:g.75742728C>T
  • NC_000017.10:g.73738809C>T
  • NC_000017.11:g.75742728C>T
  • NG_007372.1:g.26294C>T
  • NM_000213.4:c.2929C>T
  • NM_001005619.1:c.2929C>T
  • NM_001005731.2:c.2929C>T
  • NM_001321123.1:c.2929C>T
  • NP_000204.3:p.Arg977Cys
  • NP_001005619.1:p.Arg977Cys
  • NP_001005731.1:p.Arg977Cys
  • NP_001308052.1:p.Arg977Cys
  • XP_005257366.1:p.Arg977Cys
  • XP_005257367.1:p.Arg977Cys
  • XP_005257368.1:p.Arg977Cys
  • XP_005257369.1:p.Arg977Cys
  • XP_006721929.1:p.Arg1012Cys
  • XP_006721930.1:p.Arg1012Cys
  • XP_006721931.1:p.Arg1012Cys
  • XP_006721933.1:p.Arg1012Cys
  • XP_011523053.1:p.Arg1012Cys
  • XP_011523054.1:p.Arg292Cys
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 ss342465144 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs145976111 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
ss342465144NHLBI-ESP|ESP2500-chr17-73738809byFreqfwd/BC/Tgtgcccgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaaggagc03/25/1109/05/14134Genomicunknown
ss4650574481000GENOMES|20101123_snps_11224678_chr17_73738809fwd/C/Tgtgcccgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaaggagc07/20/1107/20/11135Genomicunknown
ss4911322461000GENOMES|20110521_exome_640044_chr17_73738809fwd/BC/Tgtgcccgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaaggagc02/10/1202/22/12137Genomicunknown
ss491528067EXOME_CHIP|nonsyn_244293_chr_17_73738809fwd/BC/Tgtgcccgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaaggagc03/05/1203/06/12137Genomicunknown
ss780732591ILLUMINA|HumanOmni25Exome-8v1_A_exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/30/1307/10/15146Genomicunknown
ss783409076ILLUMINA|HumanOmniExpressExome-8v1_A_exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/31/1306/19/15146Genomicunknown
ss993339096EVA-GONL|EVA-GONL_rs145976111fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa04/23/1404/30/14142Genomicunknown
ss13595623691000GENOMES|PHASE3_V1_73134878fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa08/16/1408/16/14142Genomicunknown
ss1636116625EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_73738809_40363870fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa03/04/1503/04/15144Genomicunknown
ss1679110658EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_73738809_40363870fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa03/04/1503/04/15144Genomicunknown
ss1692969992EVA_EXAC|EVA_EXAC_8357336fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa03/04/1503/04/15144Genomicunknown
ss1697390126EVA_DECODE|EVA_DECODE_17_71250404_516140_rs145976111fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa03/02/1503/04/15144Genomicunknown
ss1752240340ILLUMINA|OmniExpressExome-8v1-1_B_exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/27/1506/09/15146Genomicunknown
ss1917922900ILLUMINA|HumanExome-12v1-1_B_exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa10/16/1510/16/15147Genomicunknown
ss1936801911WEILL_CORNELL_DGM|SNV:chr17:73738809fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa10/16/1510/19/15147Genomicunknown
ss1946472208ILLUMINA|HumanCoreExome-12v1-0_C_exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa10/29/1510/29/15147Genomicunknown
ss1959770130ILLUMINA|exm1355369-0_T_R_1918787086fwd/BC/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa11/13/1511/13/15147Genomicunknown
ss2218665880HUMAN_LONGEVITY|HLI-17-75742728-C-Tfwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa11/18/1611/18/16150Genomicunknown
ss2383908426TOPMED|17_73738809_C/Tfwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa11/19/1611/19/16150Genomicunknown
ss2710857719ILLUMINA|Consortium-OncoArray_15047405_A_chr17_73738809_C_T-100_T_R_21991fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa03/22/1703/22/17151Genomicunknown
ss2743016312GNOMAD|exomes_rs145976111fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/17/1705/17/17151Genomicunknown
ss2749866097GNOMAD|coding_rs145976111fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/17/1705/17/17151Genomicunknown
ss2952520586GNOMAD|rs145976111fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/23/1705/23/17151Genomicunknown
ss2985105502AFFY|Axiom_PsorMich_Affx-52192337fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/24/1705/24/17151Genomicunknown
ss3015911310SWEGEN|NC_000017.10:g.73738809C>Tfwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa05/30/1705/30/17151Genomicunknown
ss3021805126ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1355369-0_T_R_1918787086fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa06/28/1706/28/17151Genomicunknown
ss3268927292TOPMED|TOPMed_freeze_5?chr17:75,742,728fwd/C/Tcgcaggcactgccaccctcggccgcgcctggtaaacatcaccatcatcaa10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs145976111|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTGCAGACCA GGGTAGGAGG GCGGGTCCGC TGTGCCACTG CCTCGCACCT CCCGCCTGTG
 TGGCCCTGTG ACCCACCTCT GACCACCTCC GAACCCCCAC CCAGACGCCC GGGGCATGGT
 GGAGTTCCAG GAGGGCGTGG AGCTGGTGGA CGTACGGGTG CCCCTCTTTA TCCGGCCTGA
 GGATGACGAC GAGAAGCAGC TGCTGGTGGA GGCCATCGAC GTGCCCGCAG GCACTGCCAC
 CCTCGGCCGC
 Y
 GCCTGGTAAA CATCACCATC ATCAAGGAGC AAGGTGGGTC TGGGTGGGGA GAGTGGGGAA
 GGCAGACGGG GGCTCGGGGG CACTGGTTCC TCCTGCTTAA GTGGAATTGC GACCTGGCCA
 CGTGGCCTGG GCTAGTCACT TAACCTCTGC AAGCCTTGGT TTCTCCATCT GTAAAATGGG
 TAAGGGCTCT TTTACGGAAT GCGTGGCTGT TCACCTCGCC ACAGTGCCTG CCTGGTGGTG
 AGCGCTCAGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000017
dbSNP Blast Analysis

  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/T
T/T
HWPC
T
ss1359562369EAS 1008AF 1.00000000
EUR 1006AF 0.996999980.00300000
AFR 1322AF 1.00000000
AMR 694AF 0.997100060.00290000
SAS 978AF 0.998000030.00200000
ss1692969992ExAc_Aggregated_Populations121366AF 0.997231540.00276849
ss342465144ESP_Cohort_Populations 4332GF0.996768240.00323176 1.000000000.998384120.00161588

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.006+/-0.0530000

  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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