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Reference SNP (refSNP) Cluster Report: rs10743938                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.2164/26110 (ExAC)
A=0.2993/1499 (1000 Genomes)
A=0.3124/4040 (GO-ESP)
A=0.2804/35211 (TOPMED)
HGVS Names
  • CM000674.2:g.11030852A>C
  • CM000674.2:g.11030852A>G
  • CM000674.2:g.11030852A>T
  • NC_000012.11:g.11183451A>C
  • NC_000012.11:g.11183451A>G
  • NC_000012.11:g.11183451A>T
  • NC_000012.12:g.11030852A>C
  • NC_000012.12:g.11030852A>G
  • NC_000012.12:g.11030852A>T
  • NM_001291314.1:c.-126+16168T>A
  • NM_001291314.1:c.-126+16168T>C
  • NM_001291314.1:c.-126+16168T>G
  • NM_001291315.1:c.36+16168T>A
  • NM_001291315.1:c.36+16168T>C
  • NM_001291315.1:c.36+16168T>G
  • NM_001316893.1:c.140+3930T>A
  • NM_001316893.1:c.140+3930T>C
  • NM_001316893.1:c.140+3930T>G
  • NM_176885.2:c.484T>A
  • NM_176885.2:c.484T>C
  • NM_176885.2:c.484T>G
  • NP_795366.2:p.Leu162=
  • NP_795366.2:p.Leu162Met
  • NP_795366.2:p.Leu162Val
  • NR_037918.2:n.477+3930T>A
  • NR_037918.2:n.477+3930T>C
  • NR_037918.2:n.477+3930T>G
  • NR_133575.1:n.371+16168T>A
  • NR_133575.1:n.371+16168T>C
  • NR_133575.1:n.371+16168T>G
  • NT_187658.1:g.229857T=
  • NT_187658.1:g.229857T>A
  • NT_187658.1:g.229857T>C
  • NT_187658.1:g.229857T>G
  • NW_003571047.1:g.229868T=
  • NW_003571047.1:g.229868T>A
  • NW_003571047.1:g.229868T>C
  • NW_003571047.1:g.229868T>G
  • NW_003571050.1:g.229558A>C
  • NW_003571050.1:g.229558A>G
  • NW_003571050.1:g.229558A>T
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 ss281274423 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10743938 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
ss15994125SC_SNP|NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat11/18/0311/22/03120Genomicunknown
ss18772614SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/20/0403/04/04120Genomicunknown
ss18986696SC_SNP|SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/20/0403/04/04120Genomicunknown
ss19246996CSHL-HAPMAP|CSHL-HuDD-200402.chr12.NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/20/0403/04/04120Genomicunknown
ss19946981CSHL-HAPMAP|CSHL-HuFF-200402.chr12.NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/21/0403/04/04120Genomicunknown
ss20919583SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3942425fwd/TA/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat03/19/0403/19/04121Genomicunknown
ss77642004HGSV|Cor12156_SNV_20070510.chr12_11074718fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat10/09/0710/14/07129Genomicunknown
ss88967447BCMHGSC_JDW|JWB-0518985fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/26/0802/28/08129Genomicunknown
ss97206322HUMANGENOME_JCVI|1103649367288fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat03/28/0803/28/08130Genomicunknown
ss106787199BGI|BGI_rs10743938fwd/A/Tctgcackcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat09/16/0810/21/09130Genomicunknown
ss132063422ENSEMBL|ENSSNP667379fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat12/08/0810/14/09131Genomicunknown
ss132999379ENSEMBL|ENSSNP6850060fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat05/11/0905/14/09131Genomicunknown
ss157111309GMI|GMI_SNP_31265286fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat06/24/0906/25/09131Genomicunknown
ss203547295BUSHMAN|BUSHMAN-chr12-11074717fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/16/1003/09/10132Genomicunknown
ss208168962BCM-HGSC-SUB|BCM_CMT_1011-2346808fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat03/15/1003/19/10132Genomicunknown
ss2256056731000GENOMES|pilot_1_YRI_7415356_chr12_11074718fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat04/22/1004/22/10132Genomicunknown
ss2358229301000GENOMES|pilot_1_CEU_5427559_chr12_11074718fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat05/01/1005/01/10132Genomicunknown
ss254880077BL|SNP15340_12_11074718fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat08/19/1008/19/10134Genomicunknown
ss281274423GMI|GMI_AK_SNP_5594812fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat12/16/1012/16/10137Genomicunknown
ss286506012GMI|GMI_NA10851_SNP_2518803fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat12/17/1012/17/10138Genomicunknown
ss291379936PJP|SNP_886294_chr12_11074718fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat01/21/1101/21/11134Genomicunknown
ss491464417EXOME_CHIP|nonsyn_180643_chr_12_11183451fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat03/05/1203/05/12137Genomicunknown
ss491660685CLINSEQ_SNP|SNV-chr12-11074718byFreqfwd/A/C/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/06/1209/05/14137Genomicunknown
ss533113347ILLUMINA|HumanOmni5-4v1_B_kgp11171115-0_T_F_1803141054fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt06/22/1208/29/15146Genomicunknown
ss562992462TISHKOFF|snp_chr12_11183451fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt11/22/1211/23/12138Genomicunknown
ss658524099SSMP|12_11183451fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt12/14/1202/13/15138Genomicunknown
ss713077249NHLBI-ESP|ESP6500SI-chr12-11183451fwd/A/Tctgcactcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgtacaat02/20/1302/20/13138Genomicunknown
ss780908191ILLUMINA|HumanOmni25Exome-8v1_A_exm984455-0_T_F_1922483979fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/30/1307/10/15142Genomicunknown
ss783595642ILLUMINA|HumanOmniExpressExome-8v1_A_exm984455-0_T_F_1922483979fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/31/1306/18/15142Genomicunknown
ss13439107661000GENOMES|PHASE3_V1_56826475fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt08/16/1408/16/14142Genomicunknown
ss13439107671000GENOMES|PHASE3_V1_56826476fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt08/16/1408/16/14142Genomicunknown
ss1426843784DDI|DDI_rs10743938fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt11/04/1411/04/14144Genomicunknown
ss1576113126EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10743938fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt02/19/1502/19/15144Genomicunknown
ss1628011838EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11183451_31436449fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1628011839EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11183451_31436450fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1671005871EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11183451_31436449fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1671005872EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11183451_31436450fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1690795726EVA_EXAC|EVA_EXAC_6012972fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1690795727EVA_EXAC|EVA_EXAC_6012973fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1690795728EVA_EXAC|EVA_EXAC_6012974fwd/A/Gctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/04/1503/04/15144Genomicunknown
ss1711321277EVA_MGP|EVA_XIMO_437037fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/09/1503/09/15144Genomicunknown
ss1711321278EVA_MGP|EVA_XIMO_437038fwd/TA/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt03/09/1503/09/15144Genomicunknown
ss1752046553ILLUMINA|OmniExpressExome-8v1-1_B_exm984455-0_T_F_2058863612fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/27/1506/09/15146Genomicunknown
ss1807120098HAMMER_LAB|Hsieh_6140955fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt07/15/1507/16/15146Genomicunknown
ss1917870924ILLUMINA|HumanExome-12v1-1_B_exm984455-0_T_F_2058863612fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt10/16/1510/16/15147Genomicunknown
ss1932603244WEILL_CORNELL_DGM|SNV:chr12:11183451fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt10/16/1510/17/15147Genomicunknown
ss1946331675ILLUMINA|HumanCoreExome-12v1-0_C_exm984455-0_T_F_2058863612fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt10/29/1510/29/15147Genomicunknown
ss1959413481ILLUMINA|12:11183451-AC-0_T_F_2299323612fwd/TA/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt11/13/1511/13/15147Genomicunknown
ss1967522689GENOMED|rs10743938fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt02/16/1602/16/16147Genomicunknown
ss2155369206USC_VALOUEV|NC_000012.11:g.11183451A>Tfwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt11/17/1611/17/16150Genomicunknown
ss2628001925SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4796013fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt01/06/1701/06/17151Genomicunknown
ss2699694313GRF|rs10743938fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt02/13/1702/13/17151Genomicunknown
ss2739639964GNOMAD|exomes_rs10743938fwd/A/C/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/17/1705/17/17151Genomicunknown
ss2748815543GNOMAD|coding_rs10743938fwd/A/C/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/17/1705/17/17151Genomicunknown
ss2907335239GNOMAD|rs10743938fwd/A/C/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/22/1705/22/17151Genomicunknown
ss3009205216SWEGEN|NC_000012.11:g.11183451A>Tfwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/30/1705/30/17151Genomicunknown
ss3009205217SWEGEN|NC_000012.11:g.11183451A>Cfwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt05/30/1705/30/17151Genomicunknown
ss3021406184ILLUMINA|MEGA_Consortium_v2_15070954_A2_12:11183451-AC-0_T_F_2299323612fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt06/28/1706/28/17151Genomicunknown
ss3021406185ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984455-0_T_F_1922483979fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt06/28/1706/28/17151Genomicunknown
ss3162937704TOPMED|TOPMed_freeze_5?chr12:11,030,852-01fwd/A/Cctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt09/30/1709/30/17151Genomicunknown
ss3162937705TOPMED|TOPMed_freeze_5?chr12:11,030,852-02fwd/A/Gctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt09/30/1709/30/17151Genomicunknown
ss3162937706TOPMED|TOPMed_freeze_5?chr12:11,030,852-03fwd/A/Tctcctcaatttgatcttccaagtcagtttccttcatattcttttgtccgt09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10743938|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 ATACACCACC AGTTTGTTTT CTGCTAGAAG ACACACAATG CCCCTCTCAT GAATCTATGG
 AGATGAAGGC TTCTCTCCTT TCACCCAGTA CCTCACTTGC CGCAAAACTG AAAGAAAAGT
 CTGCTTTAGC TTCTTGTTTC CCCAAATCAG GATGAATGGG TGGATTGAAG GATAGCTGAA
 TCTAATAGCT TTGCAGAACA TGAAGACAGG TTTGTTTTCC AGACTCCCAA AACTCCAAAC
 TGATATCATT ATGGACAGAA AGTAAACGGC ACATAACAAG AGGAAAAAGA TCACAGTTTG
 CAAAGCTTTT ATGTGGACCT TGGTGCTGGG ATCTTGAGAT CCTTTACCAT GGAGCTGCAT
 CTTCTTGAGA TGTTTACACA GAGAACAGAT TAACAGCAAA AAACATAGCA GGGTCAGAGT
 GAAGGGCACT AAGTTTCCTA GCGTGGTTAC AGTCGCATCT GAAAGGTACA CTGCACTCCT
 CAATTTGATC TTCCAAGTCA
 N
 GTTTCCTTCA TATTCTTTTG TCCGTACAAT CTCTTTCATG TTTATCACAA AAAGTTGACA
 AGCCAAAAAT AGTAAAGGCC CCAACAGCAT CACCAGAATG ACACTCTTAA CTCTCCTCTT
 TAAGTGAAGA AAAATAAGGT TGGAGAAATT GGCAATCTTG AGCAAATAAA ATATGCTGAG
 GCTAGTAGCA AGCCAGTTGC TGAAATGGCC GGTTACTGCC CAGACATTAT AAGCAGTAGT
 TCTTACTTCT ACACTATAAA AAGCTGGATT AAACACAGTT GAATACCAAT TTAATAATAA
 TACCCAGAGC AAACCAACTC TGGAGACCGC CAGAGCAGTG AGAATCTGGT CAGCAAAAGA
 GATCTTTTGT CTCTTGACCC GCTCAATGGA ATTTACCAAT GCTATGAAGC CATTAGCAAA
 ATTTCCAATA ACAAATAGAA CCACTACCAC ACTGGAAAAA ATGATGGGTA TAAAAGTTGT
 CATGTCTGAA CAGACAAAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
553663

  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/T
C/T
T/T
HWPA
C
G
T
ss132063422ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 4IG 1.00000000 1.00000000
ss132999379ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss1690795726ExAc_Aggregated_Populations119865AF 0.22187461 0.77812541
ss1690795727ExAc_Aggregated_Populations 28005AF 0.949651840.05034815
ss1690795728ExAc_Aggregated_Populations 26596AF 0.99996239 0.00003760
ss203547295BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
ss225605673pilot_1_YRI_low_coverage_panel 118AF 0.58474576 0.41525424
ss235822930pilot_1_CEU_low_coverage_panel 120AF 0.14166667 0.85833335
ss491660685CSAgilent 583GF0.017000000.349000010.014000000.620000000.099759000.191499990.00700000 0.80150002
ss97206322J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.357+/-0.2380000

  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
UNKNOWNUNKNOWNUNKNOWN

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