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Reference SNP (refSNP) Cluster Report: rs72558195                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0003/37 (ExAC)
A=0.0004/5 (GO-ESP)
A=0.0004/50 (TOPMED)
HGVS Names
  • CM000672.2:g.95064886G>A
  • NC_000010.10:g.96824643G>A
  • NC_000010.10:g.96824643G>C
  • NC_000010.11:g.95064886G>A
  • NG_007972.1:g.9612C>G
  • NG_007972.1:g.9612C>T
  • NM_000770.3:c.556C>G
  • NM_000770.3:c.556C>T
  • NM_001198853.1:c.346C>G
  • NM_001198853.1:c.346C>T
  • NM_001198854.1:c.250C>G
  • NM_001198854.1:c.250C>T
  • NM_001198855.1:c.346C>G
  • NM_001198855.1:c.346C>T
  • NP_000761.3:p.Arg186Gly
  • NP_000761.3:p.Arg186Ter
  • NP_001185782.1:p.Arg116Gly
  • NP_001185782.1:p.Arg116Ter
  • NP_001185783.1:p.Arg84Gly
  • NP_001185783.1:p.Arg84Ter
  • NP_001185784.1:p.Arg116Gly
  • NP_001185784.1:p.Arg116Ter
  • XR_001747030.1:n.875C>T
  • XR_246073.1:n.652C>G
  • XR_246073.1:n.652C>T
  • XR_945610.1:n.652C>T
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 ss342304210 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs72558195 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
ss105433976AFFY_DM3_1|DMET3B10131fwd/A/C/Gtgagaaaattctgatctttataatcaaatctttctggaaaacaacggagcagatcacatt09/03/0809/03/08130Genomicunknown
ss342304210NHLBI-ESP|ESP2500-chr10-96824643byFreqfwd/TA/Gtgagaaaattctgatctttataatcaaatctttctggaaaacaacggagcagatcacatt03/25/1109/05/14134Genomicunknown
ss491438663EXOME_CHIP|stopgl_154889_chr_10_96824643fwd/TA/Gtgagaaaattctgatctttataatcaaatctttctggaaaacaacggagcagatcacatt03/05/1203/05/12137Genomicunknown
ss491630000CLINSEQ_SNP|SNV-chr10-96814633fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc03/06/1203/12/12137Genomicunknown
ss780889030ILLUMINA|HumanOmni25Exome-8v1_A_exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/30/1307/10/15146Genomicunknown
ss783575277ILLUMINA|HumanOmniExpressExome-8v1_A_exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/31/1306/18/15146Genomicunknown
ss987807157EVA-GONL|EVA-GONL_rs72558195fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc04/23/1404/25/14142Genomicunknown
ss1625200946EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_96824643_28350892fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc03/04/1503/04/15144Genomicunknown
ss1668194979EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_96824643_28350892fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc03/04/1503/04/15144Genomicunknown
ss1690013073EVA_EXAC|EVA_EXAC_5172123fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc03/04/1503/04/15144Genomicunknown
ss1751988516ILLUMINA|OmniExpressExome-8v1-1_B_exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/27/1506/09/15146Genomicunknown
ss1917849857ILLUMINA|HumanExome-12v1-1_B_exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc10/16/1510/16/15147Genomicunknown
ss1946289866ILLUMINA|HumanCoreExome-12v1-0_C_exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc10/29/1510/29/15147Genomicunknown
ss1959285137ILLUMINA|exm844150-0_T_F_1920977692fwd/TA/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc11/13/1511/13/15147Genomicunknown
ss2177166273HUMAN_LONGEVITY|HLI-10-95064886-G-Afwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc11/18/1611/18/16150Genomicunknown
ss2340282411TOPMED|10_96824643_G/Afwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc11/19/1611/19/16150Genomicunknown
ss2738422475GNOMAD|exomes_rs72558195fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/17/1705/17/17151Genomicunknown
ss2748441975GNOMAD|coding_rs72558195fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/17/1705/17/17151Genomicunknown
ss2892156231GNOMAD|rs72558195fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/19/1705/19/17151Genomicunknown
ss2985568381AFFY|Axiom_Smokesc1_Affx-52135159fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc05/24/1705/24/17151Genomicunknown
ss3021265034ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm844150-0_T_F_1920977692fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc06/28/1706/28/17151Genomicunknown
ss3127584649TOPMED|TOPMed_freeze_5?chr10:95,064,886fwd/A/Gaaattctgatctttataatcaaatctttctggaaaacaacggagcagatc09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs72558195|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TGAAAATTTT GAACAGGAAA TCAAAGGTGG TAATTATTTT CTTCACTCAT ACATCATTTT
 TATTGTATAA AAGCATTTTA GTATCAATTT TCTCATTTTT AAACCAAGTC TTCCCTACAA
 CCTTGAATAA ATGGTTTCCA AGGAAAATAA AATCTTGGCC TTACCTGGAT CCATGGGGAG
 TTCAGAATCC TGAAGTTTTC ATTGAATCTT TTCATCAGGG TGAGAAAATT CTGATCTTTA
 TAATCAAATC
 R
 TTTCTGGAAA ACAACGGAGC AGATCACATT GCAGGGAGCA CAGCCCAGGA TGAAAGTGGG
 ATCACAGGGT GAAGCTAAAG ATTTAAAAAT TTTTAAAAAA ATTATTAAAA AATAAATATT
 TAAAAGATTT GCATTTGTTA AGACATAAAG GAAATTTAGA AATTTTAAAC AATATCTTAC
 AAATTCCCCA TGTGTCCAAA AAAAATCAGC ATGGATGAAA TAAACACATT ACTTTTACCT
 TAAATATGAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis
3D structure mapping
NP_000761  NP_001185782  NP_001185783  NP_001185784  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1690013073ExAc_Aggregated_Populations121412AF 0.000304750.99969524
ss342304210ESP_Cohort_Populations 4546GF 0.000879890.999120121.000000000.000439950.99956006
ss491630000CSAgilent 1323GF 0.002000000.998000031.000000000.001000000.99900001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0170000

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

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