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: rs4705038                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.2286/1145 (1000 Genomes)
A=0.2172/27274 (TOPMED)
HGVS Names
  • CM000667.2:g.147354035C>A
  • NC_000005.10:g.147354035C>A
  • NC_000005.9:g.146733598C>A
  • NM_001112724.1:c.562+2881C>A
  • NM_001287740.1:c.562+2881C>A
  • XR_001742037.1:n.895+2881C>A
  • XR_001742038.1:n.895+2881C>A
Links , Linkout
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 ss278519978 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4705038 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
ss6481993WI_SSAHASNP|NT_006859.11_1226545fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca02/12/0310/10/03111Genomicunknown
ss14653958WI_SSAHASNP|chr5.NT_029289.10_7896534byFreqfwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca11/05/0304/07/04119Genomicunknown
ss66561124ILLUMINA|HumanHap300v1.1_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca11/09/0611/09/06127Genomicunknown
ss67362222ILLUMINA|HumanHap550v1.1_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca11/14/0611/14/06127Genomicunknown
ss67748579ILLUMINA|HumanHap650Yv1.0_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca11/14/0611/14/06127Genomicunknown
ss70817701ILLUMINA|HumanHap550v3.0__rs4705038rev/BG/Ttggaaagtgaggtggctctgcatgtaggggttctcttttcctctctctctctctctctct04/20/0703/30/08130Genomicunknown
ss71398783ILLUMINA|HumanHap650Yv3.0_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca04/23/0704/23/07127Genomicunknown
ss75617880ILLUMINA|ILMN_Human_1M_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca08/28/0708/29/07129Genomicunknown
ss79190736ILLUMINA|HumanHap300v2.0_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca04/18/0711/18/07130Genomicunknown
ss82261330HGSV|Cor18956_SNV_20070510.chr5_146713791fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca11/30/0712/02/07130Genomicunknown
ss84323956KRIBB_YJKIM|KHS684449fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca12/04/0712/07/07130Genomicunknown
ss104248354BGI|BGI_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca06/08/0806/18/09131Genomicunknown
ss1094951861000GENOMES|CEU.trio.12.15.2008_1383363_chr5_146713791fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca12/16/0812/16/08130Genomicunknown
ss116849502ILLUMINA-UK|NA18507_000184509_NCBI36.1_chr5_146713791byFreqfwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca01/17/0909/05/14130Genomic99 %
ss122361091ILLUMINA|HumanCNV370v1_C_rs4705038fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca04/14/0904/15/09131Genomicunknown
ss154309452ILLUMINA|Human610_Quadv1_B_rs4705038-127_B_R_1501783430rev/BG/Ttggaaagtgaggtggctctgcatgtaggggttctcttttcctctctctctctctctctct06/18/0906/20/09131Genomicunknown
ss159486212ILLUMINA|Human660W-Quad_v1_A_rs4705038-128_B_R_1501783430rev/BG/Ttggaaagtgaggtggctctgcatgtaggggttctcttttcctctctctctctctctctct07/06/0907/07/09131Genomicunknown
ss171871701ILLUMINA|HumanCNV370-Quadv3_C_rs4705038-127_B_R_1501783430rev/BG/Ttggaaagtgaggtggctctgcatgtaggggttctcttttcctctctctctctctctctct10/01/0910/04/09132Genomicunknown
ss173785371ILLUMINA|Human1M-Duov3_B_rs4705038-127_B_R_1501783430rev/BG/Ttggaaagtgaggtggctctgcatgtaggggttctcttttcctctctctctctctctctct10/01/0910/04/09132Genomicunknown
ss200992297BUSHMAN|BUSHMAN-chr5-146713790fwd/TA/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca02/16/1003/07/10132Genomicunknown
ss2220224591000GENOMES|pilot_1_YRI_3832142_chr5_146713791fwd/A/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca04/22/1004/22/10132Genomicunknown
ss2331886241000GENOMES|pilot_1_CEU_2793253_chr5_146713791fwd/A/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca05/01/1005/01/10132Genomicunknown
ss2403020081000GENOMES|pilot_1_CHB+JPT_2187085_chr5_146713791fwd/A/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca05/01/1005/01/10132Genomicunknown
ss278519978GMI|GMI_AK_SNP_2840217fwd/A/Cagagagagagagagagagaggaaaagagaacccctacatgcagagccacctcactttcca12/16/1012/16/10137Genomicunknown
ss537261291ILLUMINA|HumanOmni5-4v1_B_rs4705038-131_B_R_1908436583fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact06/22/1208/29/15146Genomicunknown
ss558779160TISHKOFF|snp_chr5_146733598fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact11/22/1211/23/12138Genomicunknown
ss652681819SSMP|5_146733598fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact12/14/1202/11/15138Genomicunknown
ss825521254ILLUMINA|HumanCNV370v1_C_rs4705038-119_B_R_IFB1154867770:0fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact06/24/1311/21/14144Genomicunknown
ss982233990EVA-GONL|EVA-GONL_rs4705038fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact04/23/1404/24/14142Genomicunknown
ss1073122049JMKIDD_LAB|HGDP_WGS_chr5_146733598fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact07/10/1407/11/14142Genomicunknown
ss13176526901000GENOMES|PHASE3_V1_29499733fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact08/16/1408/16/14142Genomicunknown
ss1430532371DDI|DDI_rs4705038fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact11/04/1411/05/14144Genomicunknown
ss1581392062EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4705038fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact02/19/1502/20/15144Genomicunknown
ss1614246273EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_146733598_16327984fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact03/04/1503/04/15144Genomicunknown
ss1657240306EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_146733598_16327984fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact03/04/1503/04/15144Genomicunknown
ss1804127011HAMMER_LAB|Hsieh_3135897fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact07/15/1507/15/15146Genomicunknown
ss1925487974WEILL_CORNELL_DGM|SNV:chr5:146733598fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact10/16/1510/17/15147Genomicunknown
ss1970231616GENOMED|rs4705038fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact02/16/1602/16/16147Genomicunknown
ss2023350738JJLAB|SNP3853293fwd/TA/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact08/29/1608/30/16149Genomicunknown
ss2151509115USC_VALOUEV|NC_000005.9:g.146733598C>Afwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact11/17/1611/17/16150Genomicunknown
ss2279072604HUMAN_LONGEVITY|HLI-5-147354035-C-Afwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact11/18/1611/18/16150Genomicunknown
ss2447389031TOPMED|5_146733598_C/Afwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact11/20/1611/20/16150Genomicunknown
ss2626163077SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2465715fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact01/06/1701/06/17151Genomicunknown
ss2707077546GRF|rs4705038fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact02/13/1702/13/17151Genomicunknown
ss2832031529GNOMAD|rs4705038fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact05/18/1705/18/17151Genomicunknown
ss2997965774SWEGEN|NC_000005.9:g.146733598C>Afwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact05/30/1705/30/17151Genomicunknown
ss3025457438BIOINF_KMB_FNS_UNIBA|5.147354035C>Afwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact07/05/1707/05/17151Genomicunknown
ss3346674028CSHL|rs4705038fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact10/02/1710/02/17151Genomicunknown
ss3481561495TOPMED|TOPMed_freeze_5?chr5:147,354,035fwd/A/Cgagagagagagagaggaaaagagaacccctacatgcagagccacctcact10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4705038|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GCGGATCACA AGATCAAGAG ATCGAGACCA GCCTGGCCAA CATGGTGAAA CCCCATCTCT
 ACTAAAAATA CAAAAATTAG CTGGGCATGG TGGCGTGCAT CTGTAGTCAT AGCTACTCGG
 GAGGCTGAGG CAGGAAAATC ACTTGAACCT GGGAGGCGGA GGTTGCAGTG AGCCGAGACT
 GTGTCACTGC ACTCCAGCCT GGCGACAGAG TGAGACTCCA TCTCAAAAGA AAAAACAAAC
 AACAACAACA ACAAAAAACC TACTCATGCT TTACCCTAAT TAGTTAAGAT GCTTAAAGCA
 GGTGATGTGG TGATGTTGCT GTTTAAACTG GTGGGATTAA GTCGGGTGGA ATGAATTGTT
 TCAGCTAGAT ATGGTCAGAG TAATTCAAAG GTAAAATATT TCAACTTGAA ATCAAGGACA
 AGAGCAATGC CATTTTCTTT TAATATTTCA TTCTCTTCCC CCATGTAACT AGAGAGAGAG
 AGAGAGAGAG GAAAAGAGAA
 M
 CCCCTACATG CAGAGCCACC TCACTTTCCA ACAGAAATCT TCTATGAGAA AAAAAAATGA
 GCCTTATTTT CTATGATATT TGAACAACTG CAAATTTCAT GGCTTTCAAT TACCAGTGGG
 GGGAATAAAT CTCTTTTGTC ACTTCTAAAA TAATGGACAT ATATAATTCA GCCTATTTTC
 TGCCTAAAAC CTATGGTACT CAAATGATAA AAAAGCATAT CCAAGCCTGC TGCTCTGATG
 AGTTTATTCT CCAGGTTTCC TGGGTTTCCA TATTAAGGGC TATTTTCTTG GAACCAAATC
 AGAAAATGTG CATCTGGGTT TCCAGGGTTG GTTTCCATGG TGAGAGAAGT ACGGGGAGGC
 CACCTTTCTT TCCTCTCCCC AGTGGTTTTA AGTACAATAT CTGTATAATG TAATTTTTTC
 AAAGTTGGCA TTTCTAGTCT TCTCACAAGA TAGAACTGGG AAATTGGAAC CTAGGAAAAA
 TTCTGTGCAC CTTCCACTTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029289
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.
SourceA/A
A/C
C/C
HWPA
C
ss116849502HapMap-CEUEuropean 120IG0.016666670.250000000.733333351.000000000.141666670.85833335
HapMap-HCBAsian 88IG0.159090910.272727280.568181810.025056000.295454530.70454544
HapMap-JPTAsian 164IG0.024390240.414634140.560975610.150222000.231707320.76829267
HapMap-YRISub-Saharan African 118IG0.050847460.542372880.406779650.099721000.322033910.67796612
HAPMAP-ASW 94IG0.063829790.404255330.531914891.000000000.265957440.73404253
HAPMAP-LWK 172IG0.232558150.430232550.337209310.250592000.447674420.55232561
YRI 2IG1.00000000 1.00000000
ss1317652690EAS 1008AF 0.262899990.73710001
EUR 1006AF 0.136200000.86379999
AFR 1322AF 0.310100020.68989998
AMR 694AF 0.236300010.76370001
SAS 978AF 0.172800000.82720000
ss200992297BANTU 2IG 1.00000000 0.500000000.50000000
ss222022459pilot_1_YRI_low_coverage_panel 118AF 0.313559320.68644071
ss233188624pilot_1_CEU_low_coverage_panel 120AF 0.108333330.89166665
ss240302008pilot_1_CHB+JPT_low_coverage_panel 120AF 0.250000000.75000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.353+/-0.2280000ALFRED: The Allele Frequency Database

  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