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Reference SNP (refSNP) Cluster Report: rs4237255                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/147
Map to Genome Build:107/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMed
Association: PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4091/2049 (1000 Genomes)
HGVS Names
  • NC_000009.11:g.75545140G>T
  • NC_000009.12:g.72930224G>T
  • NG_012249.1:g.27830C>A
  • NM_000689.4:c.312+655C>A
  • XM_005251800.1:c.312+655C>A
  • XM_005251801.1:c.252+655C>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 ss280258547 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4237255 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
ss6311775RIKENSNPRC|ssj0004157fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg01/15/0310/10/03111Genomicunknown
ss6541554WI_SSAHASNP|NT_008580.11_4709671rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa02/12/0310/10/03111Genomicunknown
ss12580667EGP_SNPS|ALDH1A1-024731byFreqfwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg07/18/0304/07/04117Genomicunknown
ss16178164SC_SNP|NT_023935.16_4709672rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa11/18/0311/22/03120Genomicunknown
ss19783594CSHL-HAPMAP|CSHL-HuDD-200402.chr9.NT_023935.16_4709672rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa02/20/0403/04/04120Genomicunknown
ss22813582SSAHASNP|WGSA-200403-chr9.chr9.NT_023935.16_4709672rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa03/21/0403/21/04121Genomicunknown
ss43917271ABI|hCV2858287byFreqrev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa07/18/0511/03/06126Genomicunknown
ss66779994ILLUMINA|HumanHap300v1.1_rs4237255fwd/BA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg11/09/0611/09/06127Genomicunknown
ss67318989ILLUMINA|HumanHap550v1.1_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg11/14/0611/14/06127Genomicunknown
ss67723958ILLUMINA|HumanHap650Yv1.0_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg11/14/0611/14/06127Genomicunknown
ss70795978ILLUMINA|HumanHap550v3.0__rs4237255rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa04/20/0703/30/08130Genomicunknown
ss71374111ILLUMINA|HumanHap650Yv3.0_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg04/23/0704/23/07127Genomicunknown
ss75749583ILLUMINA|ILMN_Human_1M_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg08/28/0708/29/07129Genomicunknown
ss76468811AFFY|AFFY_6_1M_SNP_A-8329809fwd/TA/Cgttagatgagtcagagataatatagttggggg08/28/0708/30/07130Genomicunknown
ss79176830ILLUMINA|HumanHap300v2.0_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg04/18/0711/18/07130Genomicunknown
ss84234648KRIBB_YJKIM|KHS664389fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg12/04/0712/06/07130Genomicunknown
ss94082602BCMHGSC_JDW|JWB-2604146rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa02/26/0803/05/08129Genomicunknown
ss97801773HUMANGENOME_JCVI|1103652095312rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa03/30/0803/30/08130Genomicunknown
ss104622256BGI|BGI_rs4237255rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa06/08/0806/18/09131Genomicunknown
ss104801650KRIBB_YJKIM|KHS1107187fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg06/09/0806/09/08130Genomicunknown
ss1088009171000GENOMES|CEU.trio.12.15.2008_2185140_chr9_74734960rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa12/16/0812/16/08130Genomicunknown
ss122279683ILLUMINA|HumanCNV370v1_C_rs4237255fwd/TA/Ctttatgttttagcagttagatgagtcagagataatatagttgggggagggtatttccttg04/14/0904/15/09131Genomicunknown
ss134089559ENSEMBL|ENSSNP3037076byFreqrev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa12/08/0803/07/10131Genomicunknown
ss144157111ENSEMBL|ENSSNP7265106rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa06/05/0906/06/09131Genomicunknown
ss154285639ILLUMINA|Human610_Quadv1_B_rs4237255-128_B_R_1501771196rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa06/18/0906/20/09131Genomicunknown
ss157574523GMI|GMI_SNP_32359539rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa06/24/0906/25/09131Genomicunknown
ss159462562ILLUMINA|Human660W-Quad_v1_A_rs4237255-128_B_R_1501771196rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa07/06/0907/07/09131Genomicunknown
ss160666492ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4237255-128_B_R_1501771196rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa08/04/0910/04/09131Genomicunknown
ss164193712COMPLETE_GENOMICS|NA07022_36_chr9_74734960rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa09/29/0909/29/09132Genomicunknown
ss166512566COMPLETE_GENOMICS|NA20431_36_chr9_74734960rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa09/30/0909/30/09132Genomicunknown
ss171753404ILLUMINA|HumanCNV370-Quadv3_C_rs4237255-128_B_R_1501771196rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa10/01/0910/04/09132Genomicunknown
ss173698824ILLUMINA|Human1M-Duov3_B_rs4237255-128_B_R_1501771196rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa10/01/0910/04/09132Genomicunknown
ss200436609BUSHMAN|BUSHMAN-chr9-74734959rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa02/16/1003/07/10132Genomicunknown
ss206751367BCM-HGSC-SUB|BCM_CMT_1011-1867643rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa03/15/1003/18/10132Genomicunknown
ss2107742661000GENOMES|YRI.trio.3.2010_883799_chr9_74734960rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa03/29/1003/29/10132Genomicunknown
ss2242618521000GENOMES|pilot_1_YRI_6071535_chr9_74734960rev/G/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa04/22/1004/22/10132Genomicunknown
ss2348293041000GENOMES|pilot_1_CEU_4433933_chr9_74734960rev/G/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa05/01/1005/01/10132Genomicunknown
ss2416024221000GENOMES|pilot_1_CHB+JPT_3487499_chr9_74734960rev/G/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa05/01/1005/01/10132Genomicunknown
ss280258547GMI|GMI_AK_SNP_4578864rev/G/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa12/16/1012/16/10137Genomicunknown
ss294288560PJP|SNP_3794918_chr9_74734960rev/G/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa01/21/1101/21/11134Genomicunknown
ss480905169ILLUMINA|HumanOmni2.5-4v1_B_rs4237255-128_B_R_1782916735rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa01/30/1201/31/12137Genomicunknown
ss480924138ILLUMINA|HumanOmniExpress-12v1_C_rs4237255-131_B_R_1857553427rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa01/30/1201/31/12137Genomicunknown
ss481880754ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4237255-131_B_R_1865652350rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac01/30/1208/28/15146Genomicunknown
ss485247556ILLUMINA|HumanOmni2.5-4v1_D_rs4237255-131_B_R_1857553427rev/BG/Tcaaggaaataccctcccccaactatattatctctgactcatctaactgctaaaacataaa01/30/1202/04/12137Genomicunknown
ss537219740ILLUMINA|HumanOmni5-4v1_B__rs4237255-131_B_R_1894009134rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac06/22/1208/29/15146Genomicunknown
ss561402166TISHKOFF|snp_chr9_75545140rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac11/22/1211/23/12138Genomicunknown
ss655888483SSMP|9_75545140rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac12/14/1202/12/15138Genomicunknown
ss778531733ILLUMINA|HumanOmni25Exome-8v1_A_rs4237255-131_B_R_1865652350rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac05/30/1307/10/15146Genomicunknown
ss783069739ILLUMINA|HumanOmni2.5-4v1_H_rs4237255-131_B_R_1857553427rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac05/30/1307/29/15142Genomicunknown
ss784027592ILLUMINA|HumanOmniExpressExome-8v1_A_rs4237255-131_B_R_1894009134rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac05/31/1306/19/15146Genomicunknown
ss825507348ILLUMINA|HumanCNV370v1_C_rs4237255-126_B_R_IFB1136729796:0rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac06/24/1311/21/14144Genomicunknown
ss832327845ILLUMINA|HumanOmniExpress-12v1_H_rs4237255-131_B_R_1857553427rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac09/17/1306/19/15144Genomicunknown
ss832974061ILLUMINA|Human660W-Quad_v1_C_rs4237255-131_B_R_1857553427rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac09/18/1307/02/15142Genomicunknown
ss833564890ILLUMINA|Human660W-Quad_v1_H_rs4237255-131_B_R_1857553427rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac09/18/1307/02/15142Genomicunknown
ss833988266ILLUMINA|HumanOmni2.5-8v1_A_rs4237255-131_B_R_1865652350rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac09/18/1307/29/15146Genomicunknown
ss986597789EVA-GONL|EVA-GONL_rs4237255rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac04/23/1404/25/14142Genomicunknown
ss1076324553JMKIDD_LAB|HGDP_WGS_chr9_75545140rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac07/10/1407/11/14142Genomicunknown
ss13340241731000GENOMES|PHASE3_V1_46535300rev/G/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac08/16/1408/16/14142Genomicunknown
ss1431850179DDI|DDI_rs4237255rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac11/04/1411/05/14144Genomicunknown
ss1583111077EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4237255rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac02/19/1502/20/15144Genomicunknown
ss1596227323EVA_DECODE|EVA_DECODE_9_74734960_403946_rs4237255rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac03/02/1503/03/15144Genomicunknown
ss1622793874EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_75545140_25703453rev/G/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac03/04/1503/04/15144Genomicunknown
ss1665787907EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_75545140_25703453rev/G/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac03/04/1503/04/15144Genomicunknown
ss1713111394EVA_SVP|EVA_SVP_805761rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac03/12/1503/12/15144Genomicunknown
ss1752781908ILLUMINA|OmniExpressExome-8v1-1_B_rs4237255-131_B_R_1894009134rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac05/27/1506/09/15146Genomicunknown
ss1805998012HAMMER_LAB|Hsieh_5014366rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac07/15/1507/16/15146Genomicunknown
ss1929913857WEILL_CORNELL_DGM|SNV:chr9:75545140rev/BG/Taaataccctcccccaactatattatctctgactcatctaactgctaaaac10/16/1510/17/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4237255|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=147
 ACTATTCTCA AATAGTAATC TGCATTTCAA TTCTGGATGA TGTTAATTTC TGCTCCCATA
 ATAGATTCTA CGGTCTAAAC TTTAGCAAAC CCAAGTTAAA CCAAATTTTA GAAATTTCTT
 TACCTTAAAA CTTCTCAGAG GTTTCAATAA GATCACATGA AGTTTGAGTC TCCTAGAATG
 ATATATTAGG TTTATTCAAG CATTTGACCA CTGAGCTCTT TTGATGGAAA AACTCAAGTT
 TGTTAAGGGT GCCCAAAATA TTTCTCTAAA ATAAATCTTA TTTCTCATTA GTCTAGCTCG
 CTAAGATATT TAATAAATGG CTACTTTTTT TCTTCCTGAA ATGTGTCTGT TCACAAGGGT
 CATAATTAAA TGATGTTCTT TTTACAGATG AAAGAGGCAA AAAATAAAAA AAATCCAATT
 ATTAATGTGG TTTATCAAAA TCATGTTTTT ATGAATACTA TTTTTGTTTG TTTATGTTTT
 AGCAGTTAGA TGAGTCAGAG
 M
 ATAATATAGT TGGGGGAGGG TATTTCCTTG TTTCTGTTGT CTCAATTGGG CATTATGATG
 AAGCCAATTT AACATAAACA AATACCAAGA TCAGGTTTCA AGCAAATTTC ATCTTTAGAA
 TCTGAAAGTG GCAGTAACAA AGAAGTCTAC ATTTTTAAAA AATCAACATT AGCATGTATG
 GTTAATAGCA AGTATGGTTA ATCAAAGGAC CATTTATTAC TCAAATATTC AACATAATTT
 GAAATACACA AAAATTCAGA ACGAGCAGCT ATGTGCAATA AAACTATAGT AATAAAAATG
 ACCTGTAGGA AGAAAGCAGA AAATGCTAAA ACTTGGCTTT TCTCAATTAT CTGATTTGTT
 GACTGCCTGT CAGCATAAGA TCCTATAGAG AGAAAAGTAC AGGCATACAA AAGTCACATT
 TGGTTAAATT TTGACATGAT AGAGAGTGTA GTACAGAAAC AAATAGCTTT AACAGTTCAT
 CACCTGTGCA TTTCTGCCAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023935 ABBA01033867
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs4237255 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss12580667PDR90Global 158IG0.215189870.455696200.329113930.527089000.443037990.55696201
ss1334024173EAS 1008AF 0.454399970.54560000
EUR 1006AF 0.501999970.49800000
AFR 1322AF 0.167200000.83279997
AMR 694AF 0.488500030.51150000
SAS 978AF 0.537799950.46219999
ss134089559ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss144157111ENSEMBL_Watson 2IG1.00000000 1.00000000
ss164193712CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss166512566PGP 2IG 1.00000000 0.500000000.50000000
ss200436609BANTU 2IG 1.00000000 0.500000000.50000000
ss224261852pilot_1_YRI_low_coverage_panel 118AF 0.110169490.88983053
ss234829304pilot_1_CEU_low_coverage_panel 120AF 0.583333310.41666666
ss241602422pilot_1_CHB+JPT_low_coverage_panel 120AF 0.441666660.55833334
ss43917271HapMap-CEUEuropean 226IG0.309734520.513274310.176991150.654721000.566371680.43362832
HapMap-HCBAsian 84IG0.119047620.500000000.380952390.654721000.369047610.63095236
HapMap-JPTAsian 172IG0.186046510.383720930.430232550.099721000.377906980.62209302
HapMap-YRISub-Saharan African 226IG0.017699110.247787610.734513281.000000000.141592920.85840708
HAPMAP-ASW 98IG0.061224490.428571430.510204080.654721000.275510190.72448981
HAPMAP-CHBAsian 80IG0.100000000.449999990.449999991.000000000.324999990.67500001
HAPMAP-CHD 166IG0.216867480.506024120.277108431.000000000.469879510.53012049
HAPMAP-GIH 176IG0.329545470.443181810.227272730.342782000.551136370.44886363
HAPMAP-MEX 100IG0.140000000.540000020.319999990.438578000.410000000.58999997
HAPMAP-MKK 276IG0.028985510.326086970.644927560.583882000.192028980.80797100
HAPMAP-TSI 176IG0.193181810.420454530.386363630.250592000.403409090.59659094
ss97801773J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.483+/-0.0891214100910ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNYES

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