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Reference SNP (refSNP) Cluster Report: rs10144225                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.2260/1132 (1000 Genomes)
G=0.2051/25748 (TOPMED)
HGVS Names
  • CM000676.2:g.64238276A>G
  • NC_000014.8:g.64704994A>G
  • NC_000014.9:g.64238276A>G
  • NG_011535.1:g.105275T>C
  • NM_001040275.1:c.1226-3126T>C
  • NM_001214902.1:c.1226-3126T>C
  • NM_001214903.1:c.1226-3126T>C
  • NM_001271876.1:c.1226-3126T>C
  • NM_001271877.1:c.953-3126T>C
  • NM_001291712.1:c.1226-3126T>C
  • NM_001291723.1:c.1226-3126T>C
  • NM_001437.2:c.1226-3126T>C
  • NR_073496.1:n.1830-3126T>C
  • NR_073497.1:n.1194-3126T>C
  • NR_073505.1:n.1969-3126T>C
  • XR_001750187.1:n.1662-3126T>C
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 ss282037849 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10144225 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
ss14003579WI_SSAHASNP|chr14.NT_026437.10_44625035byFreqfwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca11/05/0310/21/04119Genomicunknown
ss23793756PERLEGEN|afd0190350byFreqfwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca08/10/0409/13/04123Genomicunknown
ss66762147ILLUMINA|HumanHap300v1.1_rs10144225fwd/BA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca11/09/0611/09/06127Genomicunknown
ss66872471ILLUMINA|HumanHap550v1.1_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca11/14/0611/14/06127Genomicunknown
ss66951835ILLUMINA|HumanHap650Yv1.0_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca11/14/0611/14/06127Genomicunknown
ss70360236ILLUMINA|HumanHap300v2.0_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca04/18/0711/17/07127Genomicunknown
ss70467969ILLUMINA|HumanHap550v3.0__rs10144225rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg04/20/0703/29/08130Genomicunknown
ss70989401ILLUMINA|HumanHap650Yv3.0_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca04/23/0704/23/07127Genomicunknown
ss75790041ILLUMINA|ILMN_Human_1M_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca08/28/0708/29/07129Genomicunknown
ss84760495HGSV|Cor19240_SNV_20070510.chr14_63774747fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca11/30/0712/07/07130Genomicunknown
ss84912480KRIBB_YJKIM|KHS846303fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca12/04/0712/08/07130Genomicunknown
ss1134365521000GENOMES|NA19240_2008_12_16_2746255_chr14_63774747fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca12/18/0812/18/08130Genomicunknown
ss118535242ILLUMINA-UK|NA18507_000058250_NCBI36.1_chr14_63774747fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca01/21/0901/21/09130Genomic99 %
ss121273262ILLUMINA|HumanCNV370v1_C_rs10144225fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca04/14/0904/14/09131Genomicunknown
ss152583768ILLUMINA|Human610_Quadv1_B_rs10144225-128_B_R_1501593523rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg06/18/0906/19/09131Genomicunknown
ss159111926ILLUMINA|Human660W-Quad_v1_A_rs10144225-128_B_R_1501593523rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg07/06/0907/06/09131Genomicunknown
ss159869493ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10144225-128_B_R_1501593523rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg08/04/0910/01/09131Genomicunknown
ss169285261ILLUMINA|HumanCNV370-Quadv3_C_rs10144225-128_B_R_1501593523rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg10/01/0910/02/09132Genomicunknown
ss169746730ILLUMINA|Human1M-Duov3_B_rs10144225-128_B_R_1501593523rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg10/01/0910/01/09132Genomicunknown
ss169757887COMPLETE_GENOMICS|NA19240_36_chr14_63774747fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca10/01/0910/01/09132Genomicunknown
ss171248388COMPLETE_GENOMICS|NA20431_36_chr14_63774747fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca10/01/0910/01/09132Genomicunknown
ss200182288BUSHMAN|BUSHMAN-chr14-63774746fwd/TA/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca02/16/1003/07/10132Genomicunknown
ss2266150111000GENOMES|pilot_1_YRI_8424694_chr14_63774747fwd/A/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca04/22/1004/22/10132Genomicunknown
ss2365754421000GENOMES|pilot_1_CEU_6180071_chr14_63774747fwd/A/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca05/01/1005/01/10132Genomicunknown
ss2430033371000GENOMES|pilot_1_CHB+JPT_4888414_chr14_63774747fwd/A/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca05/01/1005/01/10132Genomicunknown
ss244268027ILLUMINA|CVDSNP55v1_A_rs10144225rev/BC/Ttgcctcacctccccaaaccgctgtggctgaggactctgggccccaggtggagctgtgctg06/10/1006/10/10132Genomicunknown
ss282037849GMI|GMI_AK_SNP_6358238fwd/A/Gcagcacagctccacctggggcccagagtcctcagccacagcggtttggggaggtgaggca12/16/1012/16/10137Genomicunknown
ss479202360ILLUMINA|HumanOmni2.5-4v1_B_rs10144225-128_B_R_1773156341fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg01/30/1210/28/16137Genomicunknown
ss479204842ILLUMINA|HumanOmniExpress-12v1_C_rs10144225-131_B_R_1857024392fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg01/30/1210/27/16137Genomicunknown
ss479544201ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10144225-131_B_R_1865368098fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg01/30/1208/28/15146Genomicunknown
ss484402178ILLUMINA|HumanOmni2.5-4v1_D_rs10144225-131_B_R_1857024392fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg01/30/1210/27/16137Genomicunknown
ss536581750ILLUMINA|HumanOmni5-4v1_B_rs10144225-131_B_R_1885495351fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg06/22/1208/29/15146Genomicunknown
ss564146301TISHKOFF|snp_chr14_64704994fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg11/22/1211/23/12138Genomicunknown
ss659830998SSMP|14_64704994fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg12/14/1202/13/15138Genomicunknown
ss778348940ILLUMINA|HumanOmni25Exome-8v1_A_rs10144225-131_B_R_1865368098fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/30/1307/10/15146Genomicunknown
ss782647474ILLUMINA|HumanOmni2.5-4v1_H_rs10144225-131_B_R_1857024392fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/30/1307/29/15146Genomicunknown
ss783616774ILLUMINA|HumanOmniExpressExome-8v1_A_rs10144225-131_B_R_1885495351fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/31/1306/18/15146Genomicunknown
ss825329967ILLUMINA|HumanCNV370v1_C_rs10144225-123_B_R_IFB1136744031:0fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg06/24/1311/21/14144Genomicunknown
ss831897767ILLUMINA|HumanOmniExpress-12v1_H_rs10144225-131_B_R_1857024392fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg09/17/1306/18/15146Genomicunknown
ss833803617ILLUMINA|HumanOmni2.5-8v1_A_rs10144225-131_B_R_1865368098fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg09/18/1307/29/15146Genomicunknown
ss991237529EVA-GONL|EVA-GONL_rs10144225fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg04/23/1404/25/14142Genomicunknown
ss1079725609JMKIDD_LAB|HGDP_WGS_chr14_64704994fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg07/10/1407/12/14142Genomicunknown
ss13513555381000GENOMES|PHASE3_V1_64598125fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg08/16/1408/16/14142Genomicunknown
ss1577309294EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10144225fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg02/19/1502/19/15144Genomicunknown
ss1631922206EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_14_64704994_35749616fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg03/04/1503/04/15144Genomicunknown
ss1674916239EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_14_64704994_35749616fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg03/04/1503/04/15144Genomicunknown
ss1695241473EVA_DECODE|EVA_DECODE_14_63774747_356596_rs10144225fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg03/02/1503/04/15144Genomicunknown
ss1713451130EVA_SVP|EVA_SVP_1145497fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg03/12/1503/12/15144Genomicunknown
ss1752138395ILLUMINA|OmniExpressExome-8v1-1_B_rs10144225-131_B_R_1885495351fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/27/1506/09/15146Genomicunknown
ss1807961726HAMMER_LAB|Hsieh_6985710fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg07/15/1507/16/15146Genomicunknown
ss1934612478WEILL_CORNELL_DGM|SNV:chr14:64704994fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg10/16/1510/17/15147Genomicunknown
ss1967982763GENOMED|rs10144225fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg02/16/1602/16/16147Genomicunknown
ss2028085317JJLAB|SNP8587872fwd/TA/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg08/29/1608/31/16149Genomicunknown
ss2156461545USC_VALOUEV|NC_000014.8:g.64704994A>Gfwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg11/17/1611/17/16150Genomicunknown
ss2202709005HUMAN_LONGEVITY|HLI-14-64238276-A-Gfwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg11/18/1611/18/16150Genomicunknown
ss2367077916TOPMED|14_64704994_A/Gfwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg11/19/1611/19/16150Genomicunknown
ss2633162484ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10144225-131_B_R_1885495fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg02/02/1702/02/17151Genomicunknown
ss2700889727GRF|rs10144225fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg02/13/1702/13/17151Genomicunknown
ss2928696165GNOMAD|rs10144225fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/23/1705/23/17151Genomicunknown
ss3012343077SWEGEN|NC_000014.8:g.64704994A>Gfwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg05/30/1705/30/17151Genomicunknown
ss3027868371BIOINF_KMB_FNS_UNIBA|14.64238276A>Gfwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg07/05/1707/05/17151Genomicunknown
ss3213488389TOPMED|TOPMed_freeze_5?chr14:64,238,276fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg10/01/1710/01/17151Genomicunknown
ss3350847478CSHL|rs10144225fwd/A/Gcagctccacctggggcccagagtcctcagccacagcggtttggggaggtg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10144225|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGGACCACAT GTTGTATGAT TCCATTTATA ATAAAATGTC TAGAATAGGC AAATCCATAG
 AGTCAGAAAA GCAAATTAGT GGTTGCCTAG GGCTGTGGGT GGGATAGGGA GTGGGAAATG
 ATGGCTAAGA AGCATGGGGT TTCTTTTCAG GTGATGAAAA TGTTCTAAAA TTGATGGTGG
 TGATGGTTGC ACCACATACC GTGAATAAAC TAAAAACATT GAACTGTATA CTTAATATGG
 ATAAATTATA TGGTAAATGA ATTATATCAC AATAAAGCTG TTACTAAAAA TAATAGTAAT
 AATAATAATA AAAGAACGCC TCAGAACCAA AGTTACAATA ACATAAATTC CCTGGGCTGT
 GTGCAACGAA GTTTCCCCTC AGAGAACACG TATGTGTCAT TGTGTTACCC ACTTCACGAA
 CCACAGTCAT TGCCAAGGCC AGACCCTGGG CCTTCTGCAG GCTGTAGGGG CAGCACAGCT
 CCACCTGGGG CCCAGAGTCC
 R
 TCAGCCACAG CGGTTTGGGG AGGTGAGGCA CTGCAGTTGT GGAAAGGCAT ATGCGAAATC
 CATTTTACAT ATGGTGGGGT AGGGGGGCAG TGTATATACA AAAAGACTGA CTTACATAAA
 ATTATCCTGG AGACTCCTGT TCTCATTGAT CACATAGAAA AGAAATACCC TCCCAGAAAA
 GAACTGTGCT GAAGAATACC CATGCTGCTG CCTGGCTCTC CAGTCAGCAG TGCGTGCCTG
 CACCTCAGAC ATCCATGCTC AGGCCCTTGC TCATCAAATA CATATCTACA GAGTACTTGC
 TAAGTGGCAG GCCCTGGGCA GCATGGGGCA AGGGACAAGA TCCAAAGCTC TGCCCAGTCA
 GGCACAGAAA ACCACAAAAA TATAGCACCC TCTCCATCCC CCAAAAGTAA AAACATCAGT
 TAGGATTCAC TGTAAAACAA AATTAAATTA CTTTTGATGA AACGGAAGAA GTATAGTTTA
 AAAAAAAAAA ACAAAAAAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_026437
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
A/G
G
G/G
HWPA
G
ss118535242YRI 2IG 1.00000000 0.500000000.50000000
ss1351355538EAS 1008AF 0.913699980.08630000
EUR 1006AF 0.893599990.10640000
AFR 1322AF 0.474300000.52569997
AMR 694AF 0.877500000.12250000
SAS 978AF 0.838400010.16159999
ss14003579HapMap-CEUEuropean 226IG 0.787610590.19469027 0.017699110.654721000.884955760.11504425
HapMap-HCBAsian 86IG 0.837209280.16279070 1.000000000.918604670.08139535
HapMap-JPTAsian 172IG 0.872093020.11627907 0.011627910.342782000.930232580.06976745
HapMap-YRISub-Saharan African 226IG 0.168141590.48672566 0.345132741.000000000.411504420.58849555
CHMJAsian 74IG0.87837839 0.12162162 0.878378390.12162162
HAPMAP-ASW 98IG 0.306122450.48979592 0.204081641.000000000.551020380.44897959
HAPMAP-CHBAsian 82IG 0.756097560.24390244 0.751830000.878048780.12195122
HAPMAP-CHD 170IG 0.752941190.24705882 0.583882000.876470570.12352941
HAPMAP-GIH 176IG 0.568181810.38636363 0.045454550.583882000.761363630.23863636
HAPMAP-LWK 180IG 0.244444440.54444444 0.211111110.402784000.516666650.48333332
HAPMAP-MEX 100IG 0.819999990.16000000 0.020000000.438578000.899999980.10000000
HAPMAP-MKK 284IG 0.295774640.54225349 0.161971840.250592000.566901390.43309858
HAPMAP-TSI 176IG 0.670454560.31818181 0.011363640.250592000.829545440.17045455
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss169757887YRISub-Saharan African 2IG 1.00000000 1.00000000
ss171248388PGP 2IG 1.00000000 1.00000000
ss200182288BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss226615011pilot_1_YRI_low_coverage_panel 118AF 0.440677970.55932206
ss236575442pilot_1_CEU_low_coverage_panel 120AF 0.883333330.11666667
ss23793756AFD_EUR_PANELEuropean 48IG 0.791666690.20833333 1.000000000.895833310.10416666
AFD_AFR_PANELAfrican American 42IG 0.238095240.57142860 0.190476190.527089000.523809550.47619048
AFD_CHN_PANELAsian 48IG 0.708333310.25000000 0.041666670.654721000.833333310.16666667
ss243003337pilot_1_CHB+JPT_low_coverage_panel 120AF 0.933333340.06666667

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.350+/-0.2290000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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