NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs701848                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.3734/1870 (1000 Genomes)
C=0.3257/40897 (TOPMED)
HGVS Names
  • CM000672.2:g.87966988T>C
  • NC_000010.10:g.89726745T>C
  • NC_000010.11:g.87966988T>C
  • NG_007466.2:g.108550T>C
  • NM_000314.4:c.*1516T>C
  • NM_000314.6:c.*1516T>C
  • NM_001304717.2:c.*1516T>C
  • NM_001304718.1:c.*1516T>C
  • NW_013171807.1:g.182777T>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 ss280714862 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs701848 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
ss1038075KWOK|OVLP-000804-509914byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat09/02/0004/07/0486Genomic97 %
ss1529836LEE|520950rev/TA/Gatgatgattttttttaagaagtgaaattgagccctagtcccaactcgggggagcactatg09/13/0010/10/0386cDNAunknown
ss3069273TSC-CSHL|TSC1160389byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat06/07/0110/25/0696Genomicunknown
ss3773695SC_JCM|AC063965.3_88018fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat09/25/0110/10/03100Genomicunknown
ss4419381LEE|e520962rev/TA/Gatgatgattttttttaagaagtgaaattgagccctagtcccaactcgggggagcactatg04/26/0210/10/03106cDNAunknown
ss5586850SNP500CANCER|PTEN-01byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat09/26/0204/07/04113Genomicunknown
ss12982616SC_SNP|NT_030059.10_8165293fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat10/22/0310/31/03119Genomicunknown
ss15886913SC_SNP|NT_030059.11_8475261fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat11/17/0311/22/03120Genomicunknown
ss16251758CGAP-GAI|1502908fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat11/18/0311/22/03120cDNAunknown
ss16462639CSHL-HAPMAP|CSHL-HuAA-200402.chr10.NT_030059.11_8475261fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat02/17/0403/04/04120Genomicunknown
ss20614136SSAHASNP|WGSA-200403-chr10.chr10.NT_030059.11_8475261fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat03/18/0403/18/04121Genomicunknown
ss24541426PERLEGEN|afd2282871byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat08/10/0409/13/04123Genomicunknown
ss38349853EGP_SNPS|PTEN-105493byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat07/07/0511/02/06126Genomicunknown
ss38543485ABI|hCV9579248byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat07/15/0511/02/06126Genomicunknown
ss69086726PERLEGEN|PGP02282871byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat01/30/0708/14/07127Genomicunknown
ss71643128SI_EXO|NT_030059.12_8475261byFreqfwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat05/07/0703/31/08127Genomicunknown
ss76429167AFFY|AFFY_6_1M_SNP_A-8290177rev/TA/Gtaagaagtgaaattgagccctagtcccaactc08/28/0708/30/07129Genomicunknown
ss97573560HUMANGENOME_JCVI|1103694015553fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat03/29/0803/29/08130Genomicunknown
ss102899716BGI|BGI_rs701848fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat06/05/0806/17/09131Genomicunknown
ss104824382KRIBB_YJKIM|KHS1216718fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat07/10/0807/10/08130Genomicunknown
ss1096343921000GENOMES|CEU.trio.12.15.2008_2400167_chr10_89716725fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat12/16/0812/16/08130Genomicunknown
ss137902032ENSEMBL|ENSSNP462681fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat12/08/0810/16/09131Genomicunknown
ss169064352ILLUMINA|Human1M-Duov3_B_GA027120-0_B_F_1533465332fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat10/01/0910/01/09132Genomicunknown
ss2248605001000GENOMES|pilot_1_YRI_6670183_chr10_89716725fwd/C/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat04/22/1004/22/10132Genomicunknown
ss2352745071000GENOMES|pilot_1_CEU_4879136_chr10_89716725fwd/C/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat05/01/1005/01/10132Genomicunknown
ss2419617581000GENOMES|pilot_1_CHB+JPT_3846835_chr10_89716725fwd/C/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat05/01/1005/01/10132Genomicunknown
ss254497011BL|SNP105009_10_89716725fwd/BC/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat08/19/1008/19/10134Genomicunknown
ss280714862GMI|GMI_AK_SNP_5035197fwd/C/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat12/16/1012/16/10137Genomicunknown
ss290890288PJP|SNP_396646_chr10_89716725fwd/C/Tcatagtgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatcatcat01/21/1101/21/11134Genomicunknown
ss536443483ILLUMINA|HumanOmni5-4v1_B_kgp9353597-0_B_F_1904711417fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc06/22/1208/29/15146Genomicunknown
ss562115217TISHKOFF|snp_chr10_89726745fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc11/22/1211/23/12138Genomicunknown
ss657123267SSMP|10_89726745fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc12/14/1202/12/15138Genomicunknown
ss987754603EVA-GONL|EVA-GONL_rs701848fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc04/23/1404/25/14142Genomicunknown
ss1077180486JMKIDD_LAB|HGDP_WGS_chr10_89726745fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc07/10/1407/11/14142Genomicunknown
ss13384396311000GENOMES|PHASE3_V1_51134389fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc08/16/1408/16/14142Genomicunknown
ss1426397490DDI|DDI_rs701848fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc11/04/1411/04/14144Genomicunknown
ss1575269332EVA_GENOME_DK|EVA_GENOME_DK_snv_rs701848fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc02/19/1502/19/15144Genomicunknown
ss1597427365EVA_DECODE|EVA_DECODE_10_89716725_683352_rs701848fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc03/02/1503/04/15144Genomicunknown
ss1625094817EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_89726745_28233926fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc03/04/1503/04/15144Genomicunknown
ss1668088850EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_89726745_28233926fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc03/04/1503/04/15144Genomicunknown
ss1711264012EVA_MGP|EVA_XIMO_379772fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc03/09/1503/09/15144Genomicunknown
ss1713198920EVA_SVP|EVA_SVP_893287fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc03/12/1503/12/15144Genomicunknown
ss1806500748HAMMER_LAB|Hsieh_5519199fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc07/15/1507/16/15146Genomicunknown
ss1931122879WEILL_CORNELL_DGM|SNV:chr10:89726745fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc10/16/1510/17/15147Genomicunknown
ss1967189170GENOMED|rs701848fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc02/16/1602/16/16147Genomicunknown
ss2026289189JJLAB|SNP6791744fwd/BC/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc08/29/1608/30/16149Genomicunknown
ss2154564580USC_VALOUEV|NC_000010.10:g.89726745T>Cfwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc11/17/1611/17/16150Genomicunknown
ss2176768801HUMAN_LONGEVITY|HLI-10-87966988-T-Cfwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc11/18/1611/18/16150Genomicunknown
ss2339872293TOPMED|10_89726745_T/Cfwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc11/19/1611/19/16150Genomicunknown
ss2627613672SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4306143fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc01/06/1701/06/17151Genomicunknown
ss2635017558ILLUMINA|Cancer_BeadChip_11459870_A_GA027120-0_B_F_1533465332fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc02/02/1702/02/17151Genomicunknown
ss2698815895GRF|rs701848fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc02/13/1702/13/17151Genomicunknown
ss2891608565GNOMAD|rs701848fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc05/19/1705/19/17151Genomicunknown
ss3006889993SWEGEN|NC_000010.10:g.89726745T>Cfwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc05/30/1705/30/17151Genomicunknown
ss3026934159BIOINF_KMB_FNS_UNIBA|10.87966988T>Cfwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc07/05/1707/05/17151Genomicunknown
ss3126322763TOPMED|TOPMed_freeze_5?chr10:87,966,988fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc09/29/1709/29/17151Genomicunknown
ss3349240483CSHL|rs701848fwd/C/Ttgctcccccgagttgggactagggctcaatttcacttcttaaaaaaaatc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs701848|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGCTGTGGAT GCTTCATGTG CTGCCTGCAA GCTTCTTTTT TCTCATTAAA TATAAAATAT
 TTTGTAATGC TGCACAGAAA TTTTCAATTT GAGATTCTAC AGTAAGCGTT TTTTTTCTTT
 GAAGATTTAT GATGCACTTA TTCAATAGCT GTCAGCCGTT CCACCCTTTT GACCTTACAC
 ATTCTATTAC AATGAATTTT GCAGTTTTGC ACATTTTTTA AATGTCATTA ACTGTTAGGG
 AATTTTACTT GAATACTGAA TACATATAAT GTTTATATTA AAAAGGACAT TTGTGTTAAA
 AAGGAAATTA GAGTTGCAGT AAACTTTCAA TGCTGCACAC AAAAAAAAGA CATTTGATTT
 TTCAGTAGAA ATTGTCCTAC ATGTGCTTTA TTGATTTGCT ATTGAAAGAA TAGGGTTTTT
 TTTTTTTTTT TTTTTTTTTT TTTTAAATGT GCAGTGTTGA ATCATTTCTT CATAGTGCTC
 CCCCGAGTTG GGACTAGGGC
 Y
 TCAATTTCAC TTCTTAAAAA AAATCATCAT ATATTTGATA TGCCCAGACT GCATACGATT
 TTAAGCGGAG TACAACTACT ATTGTAAAGC TAATGTGAAG ATATTATTAA AAAGGTTTTT
 TTTTCCAGAA ATTTGGTGTC TTCAAATTAT ACCTTCACCT TGACATTTGA ATATCCAGCC
 ATTTTGTTTC TTAATGGTAT AAAATTCCAT TTTCAATAAC TTATTGGTGC TGAAATTGTT
 CACTAGCTGT GGTCTGACCT AGTTAATTTA CAAATACAGA TTGAATAGGA CCTACTAGAG
 CAGCATTTAT AGAGTTTGAT GGCAAATAGA TTAGGCAGAA CTTCATCTAA AATATTCTTA
 GTAAATAATG TTGACACGTT TTCCATACCT TGTCAGTTTC ATTCAACAAT TTTTAAATTT
 TTAACAAAGC TCTTAGGATT TACACATTTA TATTTAAACA TTGATATATA GAGTATTGAT
 TGATTGCTCA TAAGTTAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033890.3 AA534368 ABBA01021960 AF067844 AL356142 AL356142.4 Hs.105537 Hs.271992
dbSNP Blast Analysis
UniGene Cluster ID
500466

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1038075SC_12_AAsian 22IG0.272727280.545454560.181818190.751830000.545454560.45454547
SC_12_AAAfrican American 24IG0.083333340.250000000.666666690.402784000.208333330.79166669
SC_12_CEuropean 8IG0.142857150.714285730.14285715 0.500000000.50000000
SC_95_CEuropean 88IG0.227272730.454545470.318181810.583882000.454545470.54545456
ss1338439631EAS 1008AF 0.422600000.57740003
EUR 1006AF 0.391700000.60830003
AFR 1322AF 0.121000010.87899995
AMR 694AF 0.358799990.64120001
SAS 978AF 0.655399980.34459999
ss137902032ENSEMBL_Venter 2IG1.00000000 1.00000000
ss224860500pilot_1_YRI_low_coverage_panel 118AF 0.101694910.89830506
ss235274507pilot_1_CEU_low_coverage_panel 120AF 0.316666660.68333334
ss241961758pilot_1_CHB+JPT_low_coverage_panel 120AF 0.383333330.61666667
ss24541426AFD_EUR_PANELEuropean 48IG0.208333330.458333340.333333340.751830000.437500000.56250000
AFD_AFR_PANELAfrican American 46IG0.043478260.304347810.652173941.000000000.195652170.80434781
AFD_CHN_PANELAsian 48IG0.125000000.416666660.458333341.000000000.333333340.66666669
ss38349853EGP_YORUB-PANELSub-Saharan African 22IG0.090909090.181818190.727272750.200325000.181818190.81818181
EGP_HISP-PANELHispanic 44IG0.045454550.545454560.409090910.250592000.318181810.68181819
EGP_CEPH-PANELEuropean 44IG0.136363640.318181810.545454560.273322000.295454530.70454544
EGP_AD-PANELAfrican American 30IG0.066666670.333333340.600000021.000000000.233333330.76666665
EGP_ASIAN-PANELAsian 48IG0.125000000.583333310.291666660.342782000.416666660.58333331
ss38543485AoD_African_American 90AF 0.160000000.83999997
AoD_Caucasian 92AF 0.479999990.51999998
AoD_Chinese 90AF 0.370000000.63000000
AoD_Japanese 90AF 0.370000000.63000000
ss5586850P1 194AF0.143999990.391999990.463999990.250592000.340000000.66000003
CAUC1 62AF0.161000000.515999970.322999980.751830000.419000000.58099997
AFR1 46AF0.043000000.260999980.695999980.751830000.173999990.82599998
HISP1 38AF0.105000000.368000000.526999950.654721000.289000000.71100003
PAC1 48AF0.250000000.375000000.375000000.250592000.437999990.56199998
ss69086726HapMap-CEUEuropean 120IG0.150000010.433333340.416666660.654721000.366666670.63333333
HapMap-HCBAsian 90IG0.066666670.533333360.400000010.200325000.333333340.66666669
HapMap-JPTAsian 90IG0.155555560.422222230.422222230.583882000.366666670.63333333
HapMap-YRISub-Saharan African 120IG0.016666670.216666670.766666651.000000000.125000000.87500000
ss71643128HapMap-CEUEuropean 222IG0.153153150.441441450.405405400.583882000.373873860.62612611
HapMap-HCBAsian 86IG0.069767450.534883740.395348850.200325000.337209310.66279072
HapMap-JPTAsian 170IG0.200000000.411764710.388235300.200325000.405882360.59411764
HapMap-YRISub-Saharan African 226IG0.017699110.203539820.778761090.751830000.119469020.88053095
HAPMAP-ASW 96IG0.041666670.333333340.625000001.000000000.208333330.79166669
HAPMAP-CHBAsian 82IG0.243902440.414634140.341463420.317310000.451219500.54878050
HAPMAP-CHD 168IG0.178571430.464285700.357142870.751830000.410714300.58928573
HAPMAP-GIH 176IG0.363636370.443181810.193181810.438578000.585227250.41477272
HAPMAP-LWK 180IG0.022222220.133333340.844444450.099721000.088888890.91111112
HAPMAP-MKK 284IG 0.070422540.929577471.000000000.035211270.96478873
HAPMAP-TSI 176IG0.170454550.488636370.340909091.000000000.414772720.58522725
ss97573560J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.468+/-0.1220000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNYES