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dbSNP
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Reference SNP (refSNP) Cluster Report: rs4648417                 
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:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1651/827 (1000 Genomes)
T=0.1134/14240 (TOPMED)
HGVS Names
  • CM000663.2:g.3830755C>G
  • CM000663.2:g.3830755C>T
  • NC_000001.10:g.3747319C>T
  • NC_000001.11:g.3830755C>G
  • NC_000001.11:g.3830755C>T
  • NG_046726.1:g.31479G>A
  • NG_046726.1:g.31479G>C
  • NM_014704.3:c.1836+291G>A
  • NM_014704.3:c.1836+291G>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 ss275691530 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4648417 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
ss12992587SC_SNP|NT_004321.15_1054093fwd/BC/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa10/22/0310/31/03119Genomicunknown
ss41258258ABI|hCV30230145fwd/BC/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa07/16/0507/17/05126Genomicunknown
ss78081845HGSV|Cor12878_SNV_20070510.chr1_3770476fwd/BC/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa10/17/0710/17/07129Genomicunknown
ss154559548GMI|GMI_SNP_37581798fwd/BC/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa06/24/0906/24/09131Genomicunknown
ss2304042471000GENOMES|pilot_1_CEU_8876_chr1_3737179fwd/C/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa05/01/1005/01/10132Genomicunknown
ss275691530GMI|GMI_AK_SNP_11691fwd/C/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa12/16/1012/16/10137Genomicunknown
ss290498370PJP|SNP_4728_chr1_3737179fwd/C/Tgagatggcaccactgcacctccagcctggggacagaacgagactccatctcaaaaaaaaa01/21/1101/21/11134Genomicunknown
ss553734811TISHKOFF|snp_chr1_3747319fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa11/22/1211/22/12138Genomicunknown
ss647536616SSMP|1_3747319fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa12/14/1202/09/15138Genomicunknown
ss974796673EVA-GONL|EVA-GONL_rs4648417fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa04/23/1404/23/14142Genomicunknown
ss1067627453JMKIDD_LAB|HGDP_WGS_chr1_3747319fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa07/10/1407/10/14142Genomicunknown
ss12894523361000GENOMES|PHASE3_V1_121093fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa08/16/1408/16/14142Genomicunknown
ss1425693100DDI|DDI_rs4648417fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa11/04/1411/04/14144Genomicunknown
ss1573860235EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4648417fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa02/19/1502/19/15144Genomicunknown
ss1584155424EVA_DECODE|EVA_DECODE_1_3737179_26163_rs4648417fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa03/02/1503/02/15144Genomicunknown
ss1599427728EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_3747319_53993fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa03/04/1503/04/15144Genomicunknown
ss1642421761EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_3747319_53993fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa03/04/1503/04/15144Genomicunknown
ss1917992189WEILL_CORNELL_DGM|SNV:chr1:3747319fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa10/16/1510/16/15147Genomicunknown
ss2019512278JJLAB|SNP14833fwd/BC/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa08/29/1608/30/16149Genomicunknown
ss2147502635USC_VALOUEV|NC_000001.10:g.3747319C>Tfwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa11/17/1611/17/16150Genomicunknown
ss2624271908SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9214fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa01/06/1701/06/17151Genomicunknown
ss2697396689GRF|rs4648417fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa02/13/1702/13/17151Genomicunknown
ss2750973981GNOMAD|rs4648417fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa05/17/1705/17/17151Genomicunknown
ss2986201607SWEGEN|NC_000001.10:g.3747319C>Tfwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa05/30/1705/30/17151Genomicunknown
ss3023519764BIOINF_KMB_FNS_UNIBA|1.3830755C>Tfwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa07/05/1707/05/17151Genomicunknown
ss3343289066CSHL|rs4648417fwd/C/Tggcaccactgcacctccagcctggggacagaacgagactccatctcaaaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4648417|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 CGTCTCGGGG GCCCACAGTT TCTCATCCTC CTTGGAGGTG TGCGCTCCTG CGTAGCCGAT
 GTGCAGATTT CAGGTTTTTG GATTTGGGAT CCAAACCAGT AAGTATAATG GAAGTATTCC
 AGAATCCGAA AACAATCTGA AATCCTAAAC ACTTCTGGTC TTAAGCATTC CAGATAAGGG
 GCTTCAACCT GTACCTGATA TTCTCCATCA CACTGCTGTT ATTGTCTCTT AAAGACAGGC
 CGGGCGCAGT GGCTCACGCC TGTAATCCCA GCACTTTGGG AGGCTGAGGC GGGCGGATCA
 CGAGGTCAGG AGATCGAGAC CATCCTGGCT AACACAGTGA AACCCCGTCT CTACTAAAAT
 ACACGAAAAA ATTAGCCGGG CATGGTGGTG GGCATCCTGT AGTACCAGCT ACTTGGGAGG
 CTGAGGCAGG AGAATGGCAT GAACCCAGGA GGCAGGGCTT GCAGTGAGCC GAGATGGCAC
 CACTGCACCT CCAGCCTGGG
 B
 GACAGAACGA GACTCCATCT CAAAAAAAAA AAAAAAAAAA GACAAAGAAA TATTTTTTAT
 GATTTGTTTC TCTCCACAGA TAAAGATCTG CACACACCAT GCACCACCGA GTAGGATTAG
 ACAGCAGGAC GCATGTGGGG GCCCCCATTT GTTGGATGAA ACACTGGCTA TTTTTCTGAA
 ATCACTGCCT CAGTCATTCC TTCAACAAAT GCCGATGAGA CCCTCGCCAC GCTCCAGGCA
 CTGTGGTGAG TGCTGGGCCG CGTGGTGTGT CACACGCGAG GTCTGCTTAC CTTCATCACG
 TTGTCAATGG TGAAGCCCGA GCTGCCAGTG CCCAGGTCTT TCAGCAGCCG GGCCAGGAGG
 CCCATCTGAC TCATTGCCAG GTGAACTGAA GAGTTTGCTT TCAATGGCTG CACCAGGTAG
 GATGGAATAA TTTGGAGAGA CTTAACTTCT TTAAACAAGG CCATTTCCTA TGAAAGCCAA
 GGTAATTTGT TAATTTTTAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321
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
ss1289452336EAS 1008AF 0.662700000.33730000
EUR 1006AF 0.888700010.11130000
AFR 1322AF 0.993200000.00680000
AMR 694AF 0.716099980.28389999
SAS 978AF 0.827200000.17280000
ss230404247pilot_1_CEU_low_coverage_panel 120AF 0.891666650.10833333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.276+/-0.2490000

  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