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Reference SNP (refSNP) Cluster Report: rs10106137                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0481/241 (1000 Genomes)
A=0.0603/7572 (TOPMED)
HGVS Names
  • CM000670.2:g.74615398C>A
  • NC_000008.10:g.75527633C>A
  • NC_000008.11:g.74615398C>A
  • NR_033830.1:n.131+2458C>A
  • XR_001745957.1:n.628+1362G>T
  • XR_001745958.1:n.448-2832G>T
  • XR_001745959.1:n.448-2832G>T
  • XR_001745960.1:n.222+1362G>T
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 ss13963036 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10106137 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
ss13963036WI_SSAHASNP|chr8.NT_008183.17_27370183byFreqfwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg11/05/0310/25/06119Genomicunknown
ss66696919ILLUMINA|HumanHap300v1.1_rs10106137fwd/BA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg11/09/0611/09/06127Genomicunknown
ss66869978ILLUMINA|HumanHap550v1.1_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg11/14/0611/14/06127Genomicunknown
ss66946376ILLUMINA|HumanHap650Yv1.0_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg11/14/0611/14/06127Genomicunknown
ss70358984ILLUMINA|HumanHap300v2.0_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg04/18/0711/17/07127Genomicunknown
ss70465437ILLUMINA|HumanHap550v3.0__rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg04/20/0703/29/08130Genomicunknown
ss70986635ILLUMINA|HumanHap650Yv3.0_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg04/23/0704/23/07127Genomicunknown
ss75652431ILLUMINA|ILMN_Human_1M_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg08/28/0708/29/07129Genomicunknown
ss84905657KRIBB_YJKIM|KHS844342fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg12/04/0712/08/07130Genomicunknown
ss121265789ILLUMINA|HumanCNV370v1_C_rs10106137fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg04/14/0904/14/09131Genomicunknown
ss152571104ILLUMINA|Human610_Quadv1_B_rs10106137-128_T_F_1501592140fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg06/18/0906/19/09131Genomicunknown
ss159109418ILLUMINA|Human660W-Quad_v1_A_rs10106137-128_T_F_1501592140fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg07/06/0907/06/09131Genomicunknown
ss166776563COMPLETE_GENOMICS|NA20431_36_chr8_75690188fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg09/30/0909/30/09132Genomicunknown
ss169262907ILLUMINA|HumanCNV370-Quadv3_C_rs10106137-128_T_F_1501592140fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg10/01/0910/02/09132Genomicunknown
ss169677895ILLUMINA|Human1M-Duov3_B_rs10106137-128_T_F_1501592140fwd/TA/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg10/01/0910/01/09132Genomicunknown
ss2344928621000GENOMES|pilot_1_CEU_4097491_chr8_75690188fwd/A/Cgccagaagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagaggactg05/01/1005/01/10132Genomicunknown
ss536576901ILLUMINA|HumanOmni5-4v1_B_rs10106137-131_T_F_1908648385fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag06/22/1208/29/15146Genomicunknown
ss560841727TISHKOFF|snp_chr8_75527633fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag11/22/1211/23/12138Genomicunknown
ss655278420SSMP|8_75527633fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag12/14/1202/12/15138Genomicunknown
ss825328715ILLUMINA|HumanCNV370v1_C_rs10106137-119_T_F_IFB1135928977:0fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag06/24/1311/21/14144Genomicunknown
ss985673683EVA-GONL|EVA-GONL_rs10106137fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag04/23/1404/25/14142Genomicunknown
ss1075636721JMKIDD_LAB|HGDP_WGS_chr8_75527633fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag07/10/1407/11/14142Genomicunknown
ss13304631041000GENOMES|PHASE3_V1_42834802fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag08/16/1408/16/14142Genomicunknown
ss1397529784HAMMER_LAB|HAMMER_LAB_rs10106137fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag09/30/1409/30/14146Genomicunknown
ss1582742517EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10106137fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag02/19/1502/20/15144Genomicunknown
ss1595274509EVA_DECODE|EVA_DECODE_8_75690188_653227_rs10106137fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag03/02/1503/03/15144Genomicunknown
ss1620959541EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_75527633_23698353fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag03/04/1503/04/15144Genomicunknown
ss1663953574EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_75527633_23698353fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag03/04/1503/04/15144Genomicunknown
ss1713046584EVA_SVP|EVA_SVP_740951fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag03/12/1503/12/15144Genomicunknown
ss1928958500WEILL_CORNELL_DGM|SNV:chr8:75527633fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag10/16/1510/17/15147Genomicunknown
ss2025182210JJLAB|SNP5684765fwd/TA/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag08/29/1608/30/16149Genomicunknown
ss2153407793USC_VALOUEV|NC_000008.10:g.75527633C>Afwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag11/17/1611/17/16150Genomicunknown
ss2304367349HUMAN_LONGEVITY|HLI-8-74615398-C-Afwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag11/18/1611/18/16150Genomicunknown
ss2474229703TOPMED|8_75527633_C/Afwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag11/20/1611/20/16150Genomicunknown
ss2868514225GNOMAD|rs10106137fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag05/19/1705/19/17151Genomicunknown
ss2985441678AFFY|Axiom_PsorMich_Affx-32594461fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag05/24/1705/24/17151Genomicunknown
ss3003421834SWEGEN|NC_000008.10:g.75527633C>Afwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag05/30/1705/30/17151Genomicunknown
ss3026376957BIOINF_KMB_FNS_UNIBA|8.74615398C>Afwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag07/05/1707/05/17151Genomicunknown
ss3348248289CSHL|rs10106137fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag10/02/1710/02/17151Genomicunknown
ss3566170034TOPMED|TOPMed_freeze_5?chr8:74,615,398fwd/A/Caagctgagtccactgtgcctcatcccatcttgaagatgaggaaaacagag10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10106137|allelePos=254|totalLen=754|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GAAGCCAGCT GTGTGGGTTG TACCTCCCTA TGGAGCCAGT TAATGACACA CGGGGCTCAA
 TCCACCATCT TCTGCTTTTC CCTACAAACT CAAATATTCT CTGAACTTCA GCTATCACCA
 TCCTGGTAAT TACACCTACT TTCACAACTC TAGCTCTAAT GTCATCCTGA GAGTAGCTCA
 TCTTCACATG TGAGATCCTT TCATAGAATC AAAGATTATT GCAGCCAGAA GCTGAGTCCA
 CTGTGCCTCA TCC
 M
 CATCTTGAAG ATGAGGAAAA CAGAGGACTG GCAGAAGGTG GGTACAGAAT CCAGCCATGT
 TCCTTTTAGT CCAGTGTTCT TTCATCTCAC TTTACTGTAT CCACTCTTCA AACTCAATAT
 TTCAAAATAT AATTTACATT TTCCCTGATA ACTAGCTCTG CATTTCAGTT TCTCAGTGTG
 ACTGGCAACT CCATTGTCTT GTGTTCTCAT CTtctttttt tttttattat actttaagtt
 ctagggtaca tgtgcacaac atgcaggttt gttacatatg tatacatgtg ccatgttggt
 gtgctgcacc cattaactcg tcatttaaca ttaggtatat cccctaatac tatccttccc
 cactcccccc accccacaac aggccctggt gtgtgatgtt ccccaccctg tgtccaagtg
 ttatcattgt tcgattctca cctatgagtg agaacatgtg gtgtttggtt ttctgtcctt
 gcgatagttt gctcagaatC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008183
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/C
C/C
HWPA
C
ss1330463104EAS 1008AF 0.001000000.99900001
EUR 1006AF 0.104399990.89559996
AFR 1322AF 0.005300000.99470001
AMR 694AF 0.028800000.97120005
SAS 978AF 0.110400000.88960004
ss13963036HapMap-CEUEuropean 226IG0.008849560.141592920.849557520.751830000.079646020.92035401
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 88IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 1.00000000 1.00000000
HAPMAP-ASW 98IG 0.020408160.979591851.000000000.010204080.98979592
HAPMAP-GIH 176IG 0.227272730.772727250.583882000.113636370.88636363
HAPMAP-MEX 100IG 0.060000000.940000001.000000000.030000000.97000003
HAPMAP-MKK 286IG 0.020979020.979020951.000000000.010489510.98951048
HAPMAP-TSI 176IG 0.250000000.750000000.527089000.125000000.87500000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss166776563PGP 2IG 1.00000000 0.500000000.50000000
ss234492862pilot_1_CEU_low_coverage_panel 120AF 0.050000000.94999999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.092+/-0.1930000ALFRED: 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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