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Reference SNP (refSNP) Cluster Report: rs2118181                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.2837/1421 (1000 Genomes)
C=0.2448/30736 (TOPMED)
HGVS Names
  • CM000677.2:g.48623687T>C
  • NC_000015.10:g.48623687T>C
  • NC_000015.9:g.48915884T>C
  • NG_008805.2:g.27102A>G
  • NM_000138.4:c.165-10595A>G
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 ss282245609 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2118181 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
ss3039526TSC-CSHL|TSC1122150byFreqfwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt06/07/0104/07/0496Genomicunknown
ss3443310SC_JCM|AC027545.2_112592rev/TA/Gacatccaaagagacctatcaaggtcactcttgaattttgtcatgattgtctgtaggaatt09/24/0110/10/03100Genomicunknown
ss5209748TSC-CSHL|TSC1213546rev/TA/Gacatccaaagagacctatcaaggtcactcttgaattttgtcatgattgtctgtaggaatt09/20/0210/10/03108Genomicunknown
ss23646587PERLEGEN|afd1057530byFreqfwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt08/10/0409/13/04123Genomicunknown
ss66521963AFFY|SNP_A-4226185byFreqfwd/BC/Tatcatgacaaaattcaagagtgaccttgatag10/29/0608/14/07127Genomicunknown
ss66835399ILLUMINA|HumanHap300v1.1_rs2118181fwd/TC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt11/09/0611/09/06127Genomicunknown
ss67225820ILLUMINA|HumanHap550v1.1_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt11/14/0611/14/06127Genomicunknown
ss67620705ILLUMINA|HumanHap650Yv1.0_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt11/14/0611/14/06127Genomicunknown
ss69175630PERLEGEN|PGP01057530byFreqfwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt01/30/0708/14/07127Genomicunknown
ss70704122ILLUMINA|HumanHap550v3.0__rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt04/20/0703/30/08130Genomicunknown
ss71270604ILLUMINA|HumanHap650Yv3.0_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt04/23/0704/23/07127Genomicunknown
ss75917220ILLUMINA|ILMN_Human_1M_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt08/28/0708/29/07129Genomicunknown
ss76344639AFFY|AFFY_6_1M_SNP_A-4226185byFreqfwd/BC/Tatcatgacaaaattcaagagtgaccttgatag08/28/0703/07/10129Genomicunknown
ss79114973ILLUMINA|HumanHap300v2.0_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt04/18/0711/18/07130Genomicunknown
ss83975286KRIBB_YJKIM|KHS589539fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt12/04/0712/06/07130Genomicunknown
ss1141390471000GENOMES|NA19240_2008_12_16_2834880_chr15_46703176fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt12/18/0812/18/08130Genomicunknown
ss118217547ILLUMINA-UK|NA18507_000032729_NCBI36.1_chr15_46703176fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt01/20/0901/21/09130Genomic99 %
ss121919779ILLUMINA|HumanCNV370v1_C_rs2118181fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt04/14/0904/14/09131Genomicunknown
ss153857348ILLUMINA|Human610_Quadv1_B_rs2118181-128_B_F_1501708768fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt06/18/0906/20/09131Genomicunknown
ss159359899ILLUMINA|Human660W-Quad_v1_A_rs2118181-128_B_F_1501708768fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt07/06/0907/07/09131Genomicunknown
ss169382094COMPLETE_GENOMICS|NA19240_36_chr15_46703176fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt10/01/0910/01/09132Genomicunknown
ss171026391ILLUMINA|HumanCNV370-Quadv3_C_rs2118181-128_B_F_1501708768fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt10/01/0910/03/09132Genomicunknown
ss171060010COMPLETE_GENOMICS|NA20431_36_chr15_46703176fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt10/01/0910/01/09132Genomicunknown
ss173124414ILLUMINA|Human1M-Duov3_B_rs2118181-128_B_F_1501708768fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt10/01/0910/03/09132Genomicunknown
ss173331121AFFY|GenomeWideSNP_5_SNP_A-4226185fwd/BC/Tatcatgacaaaattcaagagtgaccttgatag10/01/0910/03/09132Genomicunknown
ss200814425BUSHMAN|BUSHMAN-chr15-46703175fwd/BC/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt02/16/1003/07/10132Genomicunknown
ss2268805981000GENOMES|pilot_1_YRI_8690281_chr15_46703176fwd/C/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt04/22/1004/22/10132Genomicunknown
ss2367692511000GENOMES|pilot_1_CEU_6373880_chr15_46703176fwd/C/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt05/01/1005/01/10132Genomicunknown
ss2431577461000GENOMES|pilot_1_CHB+JPT_5042823_chr15_46703176fwd/C/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt05/01/1005/01/10132Genomicunknown
ss282245609GMI|GMI_AK_SNP_6566008fwd/C/Taattcctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttggatgt12/16/1012/16/10137Genomicunknown
ss483399492ILLUMINA|HumanOmni2.5-4v1_B_SNP15-46703176-0_T_R_1627360627fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg01/30/1210/28/16137Genomicunknown
ss483622642ILLUMINA|HumanOmni2.5-4v1_D_kgp5881514-0_T_R_1806825206fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg01/30/1210/27/16137Genomicunknown
ss535826613ILLUMINA|HumanOmni5-4v1_B_kgp5881514-0_T_R_1806825206fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg06/22/1208/29/15146Genomicunknown
ss564467350TISHKOFF|snp_chr15_48915884fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg11/22/1211/23/12138Genomicunknown
ss660187558SSMP|15_48915884fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg12/14/1202/13/15138Genomicunknown
ss780346791ILLUMINA|HumanOmni25Exome-8v1_A_kgp5881514-0_T_R_1806825206fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg05/30/1307/10/15146Genomicunknown
ss782254670ILLUMINA|HumanOmni2.5-4v1_H_kgp5881514-0_T_R_1806825206fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg05/30/1307/29/15146Genomicunknown
ss825445491ILLUMINA|HumanCNV370v1_C_rs2118181-123_B_F_IFB1137678633:0fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg06/24/1311/21/14144Genomicunknown
ss832871790ILLUMINA|Human660W-Quad_v1_C_rs2118181-131_B_F_1864019860fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg09/18/1307/02/15142Genomicunknown
ss833462620ILLUMINA|Human660W-Quad_v1_H_rs2118181-131_B_F_1864019860fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg09/18/1307/02/15142Genomicunknown
ss835834442ILLUMINA|HumanOmni2.5-8v1_A_kgp5881514-0_T_R_1806825206fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg09/18/1307/29/15146Genomicunknown
ss991762386EVA-GONL|EVA-GONL_rs2118181fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg04/23/1404/30/14142Genomicunknown
ss1080106523JMKIDD_LAB|HGDP_WGS_chr15_48915884fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg07/10/1407/12/14142Genomicunknown
ss13533712551000GENOMES|PHASE3_V1_66699788fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg08/16/1408/16/14142Genomicunknown
ss1427618121DDI|DDI_rs2118181fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg11/04/1411/04/14144Genomicunknown
ss1577599592EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2118181fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg02/19/1502/19/15144Genomicunknown
ss1632947120EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_48915884_36880536fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg03/04/1503/04/15144Genomicunknown
ss1675941153EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_48915884_36880536fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg03/04/1503/04/15144Genomicunknown
ss1695778642EVA_DECODE|EVA_DECODE_15_46703176_193218_rs2118181fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg03/02/1503/04/15144Genomicunknown
ss1713488018EVA_SVP|EVA_SVP_1182385fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg03/12/1503/12/15144Genomicunknown
ss1808193118HAMMER_LAB|Hsieh_7218091fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg07/15/1507/16/15146Genomicunknown
ss1935166208WEILL_CORNELL_DGM|SNV:chr15:48915884fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg10/16/1510/18/15147Genomicunknown
ss1968100647GENOMED|rs2118181fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg02/16/1602/16/16147Genomicunknown
ss2028362159JJLAB|SNP8864714fwd/BC/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg08/29/1608/31/16149Genomicunknown
ss2156763299USC_VALOUEV|NC_000015.9:g.48915884T>Cfwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg11/17/1611/17/16150Genomicunknown
ss2206583479HUMAN_LONGEVITY|HLI-15-48623687-T-Cfwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg11/18/1611/18/16150Genomicunknown
ss2371258474TOPMED|15_48915884_T/Cfwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg11/19/1611/19/16150Genomicunknown
ss2628675033SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5663628fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg01/06/1701/06/17151Genomicunknown
ss2633225892ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp5881514-0_T_R_180682520fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg02/02/1702/02/17151Genomicunknown
ss2701232322GRF|rs2118181fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg02/13/1702/13/17151Genomicunknown
ss2710816319ILLUMINA|Consortium-OncoArray_15047405_A_chr15_48915884_C_T-100_T_R_21989fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg03/22/1703/22/17151Genomicunknown
ss2934637650GNOMAD|rs2118181fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg05/23/1705/23/17151Genomicunknown
ss3013244533SWEGEN|NC_000015.9:g.48915884T>Cfwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg05/30/1705/30/17151Genomicunknown
ss3028004130BIOINF_KMB_FNS_UNIBA|15.48623687T>Cfwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg07/05/1707/05/17151Genomicunknown
ss3227026293TOPMED|TOPMed_freeze_5?chr15:48,623,687fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg10/01/1710/01/17151Genomicunknown
ss3351104266CSHL|rs2118181fwd/C/Tctacagacaatcatgacaaaattcaagagtgaccttgataggtctctttg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2118181|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ATTAGCAAAG ATTAATATCA TCTCCTCAGT GCCAAAAGTA AGCCAGATGG AATATGCCAC
 CGACATTAAA ATCTGTGCGA TAGAATTATT TCTTATAAAT TTATCTATTT AAAAGAAGAC
 TATTTAACAC GTCTTTGAAA GGCTACATAG GCAGTTAAAC AGAAATGTAT GGTGGTTTTG
 TGCCTTGATT ATTTCACTGA CATGCCTGTC ATTAACTTAT TCTGATCAGT GAAGTTACCC
 ATGTTTATAA CTCAGAAATC AATATTTTCC TTTGAGAAAA TACAAAATCA ATGTAGACAA
 ATAACACACA TATGTAAACA TTTGATTCTA TTTATTTCTT TGGCAAAAGA AGAAAAAAAA
 TCCCACAAGC AACTAAGTGA AGGTTTTCAG CTCACAAGTT GGCATGCATT TTATTATGGC
 AGATTGCTGC AACTGATCAA GGCCATAGAT GGAGCCAGCC TCATGCGGCC AATTCCTACA
 GACAATCATG ACAAAATTCA
 Y
 AGAGTGACCT TGATAGGTCT CTTTGGATGT GCTGCTTGGA TGAAGGCTTT TCCCACTGCT
 GAGTGGAGTA ACTCACAGCA CAAGCAGCAC AAAGGTGTTG CATCAACAGT TTCATTCACT
 GTGTACCCTC AACTTTTCAT GGAGATTTTG TGTTGATCAA AAGCAATAGC CCAAGAACTT
 ATGGTCCAAA AATGTCGTCC CCCTTCAAGG GCATGTACAC ATGCACCCTC CTCCCCAACA
 CACACATTCT CTCTCTCACA TACACACACA CAAAGACACA AACACACACA CACACACACA
 CACACACACG CACAGCCTAA GAAAATTAGG AAATAGAAAG CTGAAAAGGC AGTTCCTCGG
 ATCTGGGACA TCATTTTTAG ACTGACAGCC AATTTAAATC CTATTGGAAT CTTTTATAGG
 TGGAGTGTAT ATATTTAAAA AAAAAGAATT TGAAGCTCAA AAAGCCATGG GATGCACTCT
 ACAGGAAACT AGACAATTGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000015.8 AC012290 AC022467 AC027140 AC084757
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.
SourceC
C/C
C/T
T
T/T
HWPC
T
ss118217547YRI 2IG 1.00000000 0.500000000.50000000
ss1353371255EAS 1008AF 0.270799990.72920001
EUR 1006AF 0.118300010.88169998
AFR 1322AF 0.569600050.43039998
AMR 694AF 0.152700010.84729999
SAS 978AF 0.173799990.82620001
ss169382094YRISub-Saharan African 2IG 1.00000000 1.00000000
ss171060010PGP 2IG 1.00000000 0.500000000.50000000
ss200814425BANTU 2IG 1.00000000 0.500000000.50000000
ss226880598pilot_1_YRI_low_coverage_panel 118AF 0.550847470.44915253
ss23646587AFD_EUR_PANELEuropean 48IG 0.20833333 0.791666691.000000000.104166660.89583331
AFD_AFR_PANELAfrican American 46IG 0.130434780.60869563 0.260869560.254213000.434782590.56521738
AFD_CHN_PANELAsian 48IG 0.083333340.33333334 0.583333310.654721000.250000000.75000000
ss236769251pilot_1_CEU_low_coverage_panel 120AF 0.100000000.89999998
ss243157746pilot_1_CHB+JPT_low_coverage_panel 120AF 0.391666680.60833335
ss3039526HapMap-CEUEuropean 226IG 0.017699110.16814159 0.814159270.402784000.101769910.89823008
HapMap-HCBAsian 84IG 0.071428570.33333334 0.595238090.654721000.238095240.76190478
HapMap-JPTAsian 170IG 0.188235300.47058824 0.341176480.751830000.423529420.57647061
HapMap-YRISub-Saharan African 222IG 0.270270260.59459460 0.135135130.050043000.567567590.43243244
CHMJAsian 74IG0.43243244 0.56756759 0.432432440.56756759
HAPMAP-ASW 98IG 0.326530610.36734694 0.306122450.099721000.510204080.48979592
HAPMAP-CHBAsian 80IG 0.100000000.44999999 0.449999991.000000000.324999990.67500001
HAPMAP-CHD 170IG 0.047058820.37647060 0.576470610.751830000.235294120.76470590
HAPMAP-GIH 176IG 0.022727270.29545453 0.681818190.751830000.170454550.82954544
HAPMAP-LWK 176IG 0.306818190.53409094 0.159090910.402784000.573863630.42613637
HAPMAP-MKK 282IG 0.141843970.56737590 0.290780130.099721000.425531920.57446808
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss66521963HapMap-CEUEuropean 118IG 0.016949150.13559322 0.847457650.342782000.084745760.91525424
HapMap-HCBAsian 90IG 0.088888890.33333334 0.577777800.438578000.255555570.74444443
HapMap-JPTAsian 90IG 0.244444440.46666667 0.288888900.751830000.477777780.52222222
HapMap-YRISub-Saharan African 120IG 0.200000000.64999998 0.150000010.020022000.524999980.47499999
ss76344639ICMHP 6IG 0.33333334 0.66666669 0.333333340.66666669

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.406+/-0.1950000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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