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Reference SNP (refSNP) Cluster Report: rs10278721                 
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:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.2621/31620 (ExAC)
T=0.2113/1058 (1000 Genomes)
T=0.2049/2498 (GO-ESP)
T=0.2117/26582 (TOPMED)
HGVS Names
  • CM000669.2:g.143478252C>T
  • NC_000007.13:g.143175345C>T
  • NC_000007.14:g.143478252C>T
  • NM_176883.2:c.380C>T
  • NP_795364.2:p.Pro127Leu
  • NR_033897.1:n.207-26522C>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 ss279567159 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10278721 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
ss14148561WUGSC_SSAHASNP|chr7.NT_007914.13_3830550fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc11/05/0311/22/03119Genomicunknown
ss48408887APPLERA_GI|hCV25924085byFreqrev/TA/Ggagcccaacaggagccagggcacccaccctggaacctccacttcagccacaggaaggtgg09/28/0511/03/06126Genomicunknown
ss69030776PERLEGEN|PGP04782644byFreqfwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc01/30/0703/31/08127Genomicunknown
ss74863671ILLUMINA|ILMN_Human_1M_rs10278721fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc08/28/0708/29/07129Genomicunknown
ss93781059BCMHGSC_JDW|JWB-2385514fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc02/26/0803/05/08129Genomicunknown
ss1126012191000GENOMES|CEU.trio.12.15.2008_1872334_chr7_142885467fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc12/17/0812/17/08130Genomicunknown
ss119619975KRIBB_YJKIM|KHS1782222fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc02/04/0902/05/09131Genomicunknown
ss143038916ENSEMBL|ENSSNP13374163fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc06/05/0906/05/09131Genomicunknown
ss159715941SEATTLESEQ|TAS2R41-142885467fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc07/10/0907/10/09131Genomicunknown
ss159886298ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10278721-128_B_F_1513882106fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc08/04/0910/01/09131Genomicunknown
ss162800720COMPLETE_GENOMICS|NA07022_36_chr7_142885467fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc09/28/0909/29/09132Genomicunknown
ss167209836COMPLETE_GENOMICS|NA20431_36_chr7_142885467fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc09/30/0909/30/09132Genomicunknown
ss169975654ILLUMINA|Human1M-Duov3_B_rs10278721-128_B_F_1513882106fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc10/01/0910/01/09132Genomicunknown
ss2342041721000GENOMES|pilot_1_CEU_3808801_chr7_142885467fwd/C/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc05/01/1005/01/10132Genomicunknown
ss2411090791000GENOMES|pilot_1_CHB+JPT_2994156_chr7_142885467fwd/C/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc05/01/1005/01/10132Genomicunknown
ss279567159GMI|GMI_AK_SNP_3887408fwd/C/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc12/16/1012/16/10137Genomicunknown
ss285735701GMI|GMI_NA10851_SNP_1748474fwd/C/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc12/17/1012/17/10138Genomicunknown
ss479247280ILLUMINA|HumanOmni2.5-4v1_B_rs10278721-128_B_F_1513882106fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg01/30/1210/29/16137Genomicunknown
ss479250021ILLUMINA|HumanOmniExpress-12v1_C_rs10278721-131_B_F_1857067126fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg01/30/1210/27/16137Genomicunknown
ss479611094ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10278721-131_B_F_1865569736fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg01/30/1208/28/15146Genomicunknown
ss484424348ILLUMINA|HumanOmni2.5-4v1_D_rs10278721-131_B_F_1857067126fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg01/30/1210/28/16137Genomicunknown
ss4909565081000GENOMES|20110521_exome_464306_chr7_143175345fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc02/10/1202/21/12137Genomicunknown
ss491407227EXOME_CHIP|nonsyn_123453_chr_7_143175345fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc03/05/1203/05/12137Genomicunknown
ss491917105CLINSEQ_SNP|SNV-chr7-142885467byFreqfwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/06/1209/05/14137Genomicunknown
ss536598272ILLUMINA|HumanOmni5-4v1_B_rs10278721-131_B_F_1894878154fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg06/22/1208/29/15146Genomicunknown
ss560363575TISHKOFF|snp_chr7_143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/22/1211/23/12138Genomicunknown
ss654776724SSMP|7_143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg12/14/1202/11/15138Genomicunknown
ss712807674NHLBI-ESP|ESP6500SI-chr7-143175345fwd/BC/Tccaccttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttgggctc02/20/1302/20/13138Genomicunknown
ss778729348ILLUMINA|HumanOmni25Exome-8v1_A_rs10278721-131_B_F_1865569736fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/30/1307/10/15142Genomicunknown
ss780865419ILLUMINA|HumanOmni25Exome-8v1_A_exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/30/1307/10/15146Genomicunknown
ss782658630ILLUMINA|HumanOmni2.5-4v1_H_rs10278721-131_B_F_1857067126fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/30/1307/29/15146Genomicunknown
ss783550077ILLUMINA|HumanOmniExpressExome-8v1_A_exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/31/1306/19/15146Genomicunknown
ss783627707ILLUMINA|HumanOmniExpressExome-8v1_A_rs10278721-131_B_F_1894878154fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/31/1306/19/15142Genomicunknown
ss831909094ILLUMINA|HumanOmniExpress-12v1_H_rs10278721-131_B_F_1857067126fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg09/17/1306/19/15146Genomicunknown
ss834188822ILLUMINA|HumanOmni2.5-8v1_A_rs10278721-131_B_F_1865569736fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg09/18/1307/29/15142Genomicunknown
ss974466357JMKIDD_LAB|KhoeSan_Exomes_chr7_143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/06/1403/06/14142Genomicunknown
ss984901829EVA-GONL|EVA-GONL_rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg04/23/1404/24/14142Genomicunknown
ss1067493445JMKIDD_LAB|HGDP_exomes_chr7_143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg07/09/1407/09/14142Genomicunknown
ss1075057550JMKIDD_LAB|HGDP_WGS_chr7_143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg07/10/1407/11/14142Genomicunknown
ss13275291561000GENOMES|PHASE3_V1_39795746fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg08/16/1408/16/14142Genomicunknown
ss1431309187DDI|DDI_rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/04/1411/05/14144Genomicunknown
ss1582440773EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg02/19/1502/20/15144Genomicunknown
ss1584055814EVA_FINRISK|EVA_FINRISK_rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg02/27/1502/27/15144Genomicunknown
ss1594491447EVA_DECODE|EVA_DECODE_7_142885467_1099644_rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/02/1503/03/15144Genomicunknown
ss1619427021EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_143175345_22033652fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/04/1503/04/15144Genomicunknown
ss1662421054EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_143175345_22033652fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/04/1503/04/15144Genomicunknown
ss1689001009EVA_EXAC|EVA_EXAC_4083589fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/04/1503/04/15144Genomicunknown
ss1711184419EVA_MGP|EVA_XIMO_300179fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/09/1503/09/15144Genomicunknown
ss1712994759EVA_SVP|EVA_SVP_689126fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg03/12/1503/12/15144Genomicunknown
ss1752669126ILLUMINA|OmniExpressExome-8v1-1_B_exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/27/1506/09/15146Genomicunknown
ss1752669127ILLUMINA|OmniExpressExome-8v1-1_B_rs10278721-131_B_F_1894878154fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/27/1506/09/15146Genomicunknown
ss1805266410HAMMER_LAB|Hsieh_4279886fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg07/15/1507/16/15146Genomicunknown
ss1917823434ILLUMINA|HumanExome-12v1-1_B_exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg10/16/1510/16/15147Genomicunknown
ss1928157802WEILL_CORNELL_DGM|SNV:chr7:143175345fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg10/16/1510/17/15147Genomicunknown
ss1946223436ILLUMINA|HumanCoreExome-12v1-0_C_exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg10/29/1510/29/15147Genomicunknown
ss1959060444ILLUMINA|exm666547-0_B_F_1918596989fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/13/1511/13/15147Genomicunknown
ss1970838790GENOMED|rs10278721fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg02/16/1602/16/16147Genomicunknown
ss2024768556JJLAB|SNP5271111fwd/BC/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg08/29/1608/30/16149Genomicunknown
ss2152993816USC_VALOUEV|NC_000007.13:g.143175345C>Tfwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/17/1611/17/16150Genomicunknown
ss2298665511HUMAN_LONGEVITY|HLI-7-143478252-C-Tfwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/18/1611/18/16150Genomicunknown
ss2468169834TOPMED|7_143175345_C/Tfwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg11/20/1611/20/16150Genomicunknown
ss2626871475SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3371827fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg01/06/1701/06/17151Genomicunknown
ss2634672432ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10278721-131_B_F_1894878fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg02/02/1702/02/17151Genomicunknown
ss2708716889GRF|rs10278721fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg02/13/1702/13/17151Genomicunknown
ss2736850932GNOMAD|exomes_rs10278721fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/17/1705/17/17151Genomicunknown
ss2747950602GNOMAD|coding_rs10278721fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/17/1705/17/17151Genomicunknown
ss2860235978GNOMAD|rs10278721fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/19/1705/19/17151Genomicunknown
ss2985423779AFFY|Axiom_PsorMich_Affx-29875382fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/24/1705/24/17151Genomicunknown
ss3002203717SWEGEN|NC_000007.13:g.143175345C>Tfwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg05/30/1705/30/17151Genomicunknown
ss3022789324ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm666547-0_B_F_1918596989fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg06/28/1706/28/17151Genomicunknown
ss3026173856BIOINF_KMB_FNS_UNIBA|7.143478252C>Tfwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg07/05/1707/05/17151Genomicunknown
ss3347890174CSHL|rs10278721fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg10/02/1710/02/17151Genomicunknown
ss3547022825TOPMED|TOPMed_freeze_5?chr7:143,478,252fwd/C/Tttcctgtggctgaagtggaggttccagggtgggtgccctggctcctgttg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10278721|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AGATGCAGAG CCTGACCACT CTTTAGCACT CCTAGGAAAG ATTAAAAACA GGACTGTGGC
 TAGGGGCAGG GAGGAGGCCA GGGACCAAGG CACTCAAGTG GGGACTGCAG GAGGGGTCAG
 AATGCAAGCA GCACTGACGG CCTTCTTCGT GTTGCTCTTT AGCCTGCTGA GTCTTCTGGG
 GATTGCAGCG AATGGCTTCA TTGTGCTGGT GCTGGGCAGG GAGTGGCTGC GATATGGCAG
 GTTGCTGCCC TTGGATATGA TCCTCATTAG CTTGGGTGCC TCCCGCTTCT GCCTGCAGTT
 GGTTGGGACG GTGCACAACT TCTACTACTC TGCCCAGAAG GTCGAGTACT CTGGGGGTCT
 CGGCCGACAG TTCTTCCATC TACACTGGCA CTTCCTGAAC TCAGCCACCT TCTGGTTTTG
 CAGCTGGCTC AGTGTCCTGT TCTGTGTGAA GATTGCTAAC ATCACACACT CCACCTTCCT
 GTGGCTGAAG TGGAGGTTCC
 Y
 AGGGTGGGTG CCCTGGCTCC TGTTGGGCTC TGTCCTGATC TCCTTCATCA TAACCCTGCT
 GTTTTTTTGG GTGAACTACC CTGTATATCA AGAATTTTTA ATTAGAAAAT TTTCTGGGAA
 CATGACCTAC AAGTGGAATA CAAGGATAGA AACATACTAT TTCCCATCCC TGAAACTGGT
 CATCTGGTCA ATTCCTTTTT CTGTTTTTCT GGTCTCAATT ATGCTGTTAA TTAATTCTCT
 GAGGAGGCAT ACTCAGAGAA TGCAGCACAA CGGGCACAGC CTGCAGGACC CCAGCACCCA
 GGCTCACACC AGAGCTCTGA AGTCCCTCAT CTCCTTCCTC ATTCTTTATG CTCTGTCCTT
 TCTGTCCCTG ATCATTGATG CCGCAAAATT TATCTCCATG CAGAACGACT TTTACTGGCC
 ATGGCAAATT GCAGTCTACC TGTGCATATC TGTCCATCCC TTCATCCTCA TCTTCAGCAA
 CCTCAAGCTT CGAAGCGTGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914
dbSNP Blast Analysis
UniGene Cluster ID
553661

  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
ss1327529156EAS 1008AF 0.704400000.29560003
EUR 1006AF 0.746500020.25349998
AFR 1322AF 0.977299990.02270000
AMR 694AF 0.730500040.26950002
SAS 978AF 0.705500010.29449999
ss143038916ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss162800720CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss167209836PGP 2IG 1.00000000 1.00000000
ss1689001009ExAc_Aggregated_Populations120848AF 0.738100770.26189923
ss234204172pilot_1_CEU_low_coverage_panel 120AF 0.708333310.29166666
ss241109079pilot_1_CHB+JPT_low_coverage_panel 120AF 0.691666660.30833334
ss48408887HapMap-CEUEuropean 226IG0.451327440.469026540.079646020.371093000.685840730.31415930
HapMap-HCBAsian 84IG0.523809550.380952390.095238100.751830000.714285730.28571430
HapMap-JPTAsian 172IG0.395348850.476744170.127906981.000000000.633720930.36627907
HapMap-YRISub-Saharan African 226IG0.973451320.02654867 1.000000000.986725690.01327434
AGI_ASP populationmultiple 64IG0.625000000.250000000.125000000.099721000.750000000.25000000
HAPMAP-ASW 98IG0.795918350.20408164 0.751830000.897959170.10204082
HAPMAP-CHBAsian 82IG0.634146330.317073170.048780491.000000000.792682950.20731707
HAPMAP-CHD 170IG0.447058830.411764710.141176480.402784000.652941170.34705883
HAPMAP-GIH 176IG0.522727250.329545470.147727270.050043000.687500000.31250000
HAPMAP-LWK 178IG0.943820240.05617978 1.000000000.971910120.02808989
HAPMAP-MEX 100IG0.519999980.360000010.120000000.317310000.699999990.30000001
HAPMAP-MKK 286IG0.895104890.090909090.013986010.050043000.940559450.05944056
HAPMAP-TSI 176IG0.568181810.363636370.068181821.000000000.750000000.25000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss491917105CSAgilent 1321GF0.533999980.389999960.076000000.751830000.729000030.27100000
ss69030776HapMap-CEUEuropean 120IG0.433333340.483333320.083333340.438578000.675000010.32499999
HapMap-HCBAsian 90IG0.511111140.400000010.088888891.000000000.711111130.28888890
HapMap-JPTAsian 90IG0.355555560.511111140.133333340.654721000.611111100.38888890
HapMap-YRISub-Saharan African 120IG0.966666640.03333334 1.000000000.983333350.01666667

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.387+/-0.2090000

  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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