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Reference SNP (refSNP) Cluster Report: rs1436013                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:88/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.2394/1199 (1000 Genomes)
G=0.2189/27492 (TOPMED)
HGVS Names
  • CM000670.2:g.57865559T>C
  • CM000670.2:g.57865559T>G
  • NC_000008.10:g.58778118T>G
  • NC_000008.11:g.57865559T>C
  • NC_000008.11:g.57865559T>G
  • XR_928921.2:n.348+941T>C
  • XR_928921.2:n.348+941T>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 ss10477678 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1436013 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
ss2246402TSC-CSHL|TSC0651574fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg10/20/0010/10/0388Genomic95 %
ss10477678BCM_SSAHASNP|chr8.NT_008183.16_10620667byFreqfwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg06/29/0305/17/04116Genomicunknown
ss17979801CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_008183.17_10620667fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg02/19/0403/04/04120Genomicunknown
ss23910425PERLEGEN|afd4274070byFreqfwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg08/10/0409/13/04123Genomicunknown
ss66639216ILLUMINA|HumanHap300v1.1_rs1436013fwd/TG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg11/09/0611/09/06127Genomicunknown
ss67103962ILLUMINA|HumanHap550v1.1_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg11/14/0611/14/06127Genomicunknown
ss67439758ILLUMINA|HumanHap650Yv1.0_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg11/14/0611/14/06127Genomicunknown
ss70432429ILLUMINA|HumanHap300v2.0_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg04/18/0711/18/07127Genomicunknown
ss70617811ILLUMINA|HumanHap550v3.0__rs1436013rev/TA/Cccattggtgggaatctaaaattttgcagacctatggaaaaagccagcgtgacggttcctc04/20/0703/30/08130Genomicunknown
ss71166068ILLUMINA|HumanHap650Yv3.0_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg04/23/0704/23/07127Genomicunknown
ss75513445ILLUMINA|ILMN_Human_1M_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg08/28/0708/29/07129Genomicunknown
ss83772894KRIBB_YJKIM|KHS539831fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg12/04/0712/05/07130Genomicunknown
ss93892608BCMHGSC_JDW|JWB-2468820fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg02/26/0803/05/08129Genomicunknown
ss104533410BGI|BGI_rs1436013fwd/BG/Tgaggaaccgtcaygctggctttttccataggtctgcaaaattttagattcccaccaatgg06/08/0806/18/09131Genomicunknown
ss1080517491000GENOMES|CEU.trio.12.15.2008_1993755_chr8_58940672fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg12/15/0812/15/08130Genomicunknown
ss115961234ILLUMINA-UK|NA18507_000090537_NCBI36.1_chr8_58940672fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg01/16/0901/17/09131Genomic99 %
ss121695789ILLUMINA|HumanCNV370v1_C_rs1436013fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg04/14/0904/14/09131Genomicunknown
ss153435882ILLUMINA|Human610_Quadv1_B_rs1436013-128_T_R_1501691094rev/TA/Cccattggtgggaatctaaaattttgcagacctatggaaaaagccagcgtgacggttcctc06/18/0906/19/09131Genomicunknown
ss159269629ILLUMINA|Human660W-Quad_v1_A_rs1436013-128_T_R_1501691094rev/TA/Cccattggtgggaatctaaaattttgcagacctatggaaaaagccagcgtgacggttcctc07/06/0907/06/09131Genomicunknown
ss161653531ENSEMBL|ENSSNP2842857byFreqfwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg09/24/0903/07/10131Genomicunknown
ss164744587COMPLETE_GENOMICS|NA19240_36_chr8_58940672fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg09/29/0909/30/09132Genomicunknown
ss170507327ILLUMINA|HumanCNV370-Quadv3_C_rs1436013-128_T_R_1501691094rev/TA/Cccattggtgggaatctaaaattttgcagacctatggaaaaagccagcgtgacggttcctc10/01/0910/03/09132Genomicunknown
ss172500165ILLUMINA|Human1M-Duov3_B_rs1436013-128_T_R_1501691094rev/TA/Cccattggtgggaatctaaaattttgcagacctatggaaaaagccagcgtgacggttcctc10/01/0910/02/09132Genomicunknown
ss2105428041000GENOMES|YRI.trio.3.2010_805806_chr8_58940672fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg03/29/1003/29/10132Genomicunknown
ss2237229351000GENOMES|pilot_1_YRI_5532618_chr8_58940672fwd/G/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg04/22/1004/22/10132Genomicunknown
ss2344501541000GENOMES|pilot_1_CEU_4054783_chr8_58940672fwd/G/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg05/01/1005/01/10132Genomicunknown
ss2413039931000GENOMES|pilot_1_CHB+JPT_3189070_chr8_58940672fwd/G/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg05/01/1005/01/10132Genomicunknown
ss279824754GMI|GMI_AK_SNP_4145025fwd/G/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg12/16/1012/16/10137Genomicunknown
ss491413693EXOME_CHIP|.GWAS._129919_chr_8_58778118fwd/BG/Tgaggaaccgtcacgctggctttttccataggtctgcaaaattttagattcccaccaatgg03/05/1203/05/12137Genomicunknown
ss536871445ILLUMINA|HumanOmni5-4v1_B_rs1436013-131_T_R_1885473791fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc06/22/1208/29/15146Genomicunknown
ss560770073TISHKOFF|snp_chr8_58778118fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/22/1211/23/12138Genomicunknown
ss655205694SSMP|8_58778118fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc12/14/1202/12/15138Genomicunknown
ss780681944ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/30/1307/10/15146Genomicunknown
ss783355276ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/31/1306/19/15146Genomicunknown
ss825401703ILLUMINA|HumanCNV370v1_C_rs1436013-123_T_R_IFB1135583932:0fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc06/24/1311/21/14144Genomicunknown
ss985551918EVA-GONL|EVA-GONL_rs1436013fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc04/23/1404/25/14142Genomicunknown
ss1075546086JMKIDD_LAB|HGDP_WGS_chr8_58778118fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc07/10/1407/11/14142Genomicunknown
ss13299979391000GENOMES|PHASE3_V1_42351109fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc08/16/1408/16/14142Genomicunknown
ss1431523408DDI|DDI_rs1436013fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/04/1411/05/14144Genomicunknown
ss1582697103EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1436013fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc02/19/1502/20/15144Genomicunknown
ss1595147644EVA_DECODE|EVA_DECODE_8_58940672_526359_rs1436013fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/02/1503/03/15144Genomicunknown
ss1620711662EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_58778118_23427173fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/04/1503/04/15144Genomicunknown
ss1620711663EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_58778118_23427174fwd/C/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/04/1503/04/15144Genomicunknown
ss1663705695EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_58778118_23427173fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/04/1503/04/15144Genomicunknown
ss1663705696EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_58778118_23427174fwd/C/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/04/1503/04/15144Genomicunknown
ss1713038374EVA_SVP|EVA_SVP_732741fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc03/12/1503/12/15144Genomicunknown
ss1752736602ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/27/1506/09/15146Genomicunknown
ss1805550372HAMMER_LAB|Hsieh_4565048fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc07/15/1507/16/15146Genomicunknown
ss1917828801ILLUMINA|HumanExome-12v1-1_B_exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/16/1510/16/15147Genomicunknown
ss1928839894WEILL_CORNELL_DGM|SNV:chr8:58778118fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/16/1510/17/15147Genomicunknown
ss1946237376ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/29/1510/29/15147Genomicunknown
ss1959112194ILLUMINA|exm-rs1436013-131_T_R_1990488677fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/13/1511/13/15147Genomicunknown
ss2025121067JJLAB|SNP5623622fwd/BG/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc08/29/1608/30/16149Genomicunknown
ss2153347011USC_VALOUEV|NC_000008.10:g.58778118T>G,Cfwd/C/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/17/1611/17/16150Genomicunknown
ss2303390581HUMAN_LONGEVITY|HLI-8-57865559-T-C,Gfwd/C/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/18/1611/18/16150Genomicunknown
ss2473231265TOPMED|8_58778118_T/Gfwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc11/20/1611/20/16150Genomicunknown
ss2634750074ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1436013-131_T_R_18854737fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc02/02/1702/02/17151Genomicunknown
ss2634750075ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1436013-131_T_R_2130fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc02/02/1702/02/17151Genomicunknown
ss2709116323GRF|rs1436013fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc02/13/1702/13/17151Genomicunknown
ss2867182298GNOMAD|rs1436013fwd/C/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/19/1705/19/17151Genomicunknown
ss2985439180AFFY|Axiom_PsorMich_Affx-32384768fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/24/1705/24/17151Genomicunknown
ss3003238732SWEGEN|NC_000008.10:g.58778118T>Gfwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc05/30/1705/30/17151Genomicunknown
ss3022847342ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1436013-131_T_R_1990488677fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc06/28/1706/28/17151Genomicunknown
ss3026347251BIOINF_KMB_FNS_UNIBA|8.57865559T>Gfwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc07/05/1707/05/17151Genomicunknown
ss3348196605CSHL|rs1436013fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/02/1710/02/17151Genomicunknown
ss3563119722TOPMED|TOPMed_freeze_5?chr8:57,865,559-01fwd/C/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/06/1710/06/17151Genomicunknown
ss3563119723TOPMED|TOPMed_freeze_5?chr8:57,865,559-02fwd/G/Taccgtcacgctggctttttccataggtctgcaaaattttagattcccacc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1436013|allelePos=976|totalLen=2230|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 GCATCCTTTG GGACAAGACC GATGTTCATG ACAAGGTAAT AGCAAAATTA TTTTCTTTCT
 GATGAGGCTC TGTTCTTATA CTCCCTCCCA GAGGCTGCAG GCCTGATGGT TGTAAGCCTT
 ACTGGGCAGA GAGACACCCA GCCCTGCCTA GAGGTGGTAC TGAAGAAAGG GCTGGGGCTG
 CATGAAATTT TAAATTTTAa aaaccaactg agagccagtt tgctcttcat tatcactgtg
 ccccaatact tctaaacaat atcagtgaca aaatagtctt ctatgtaaca tctttttagg
 tctaaattct agatcattgc tatgctttct gttgagtttt Gttttaactg gagtaaaata
 cacataacat aaaatttacc atcttaacca tttttaagta tacatttcag tgccatgaag
 tgcatccaca tttttatgca accatcacca tcatccttct ccagaacttt tttcattcat
 tttacaaaac tgaaactctg tatccatgaa gcataactcc tcattcttcc ctgcctcacg
 ccctggcaac cgtcattcta ctttctgtct ctttgattct gactgctgtg ggcacctcgt
 gtaaatgaaa atagacaata attatatttt tgttgctgga ctatttcatt aaccacagtg
 tcctcaaagt tcacccaggg tacagtatgc gtcagaattt ccttcctttt gaaggctgaa
 taatgtttca ttgatgtgta tactacattc tgtttattca ttcatttgtg gatgaacact
 tgggttgctt cttcctttag gctattatga ataatgctgt tatgaacata gataggtatg
 taattatctc tccaagatat ggctttcaat tctttttggt acatacccaa aagtggaatt
 gctggccata cgataatcct tttttttttt ttttttttgt catttgagga accgtcacgc
 tggctttttc catag
 B
 gtctgcaaaa ttttagattc ccaccaatgg tacacaaggg ttccttccaa ttgctccaca
 tcctgccgac acttgttatt ttctggtttt tgatggtagc catcctaata gatgtgacat
 ggtatctact tgtgattttc tttcattttc ctaatgatta ctgatgttgg gcatcttttc
 gtgtgcttat tgaccatttc tacgtcttct ttgcagaaat atctatgcaa gtcttttact
 catttttaaa ttgggttgct ttaggttttt tgttgATTTG TTGCATTTTA ATACTCTCTT
 tgtatgcttc aagctagaac ttttctatta cctatctttt aataaacatt atattcagca
 aggaagataa tttacagaat gcccattgtg cagtcaatcc cccagacagg cagactcaac
 cacacaagtt cttttacaga gtatgtttat aacaggaagg tttcatataa cttcaggtgc
 agtttatttc tctaacccat acagaaccac atcttcctgc attaaaatat attctaaatg
 aaaaatgata gaacagtaat tatgacaaca aagaaataga atttgagcta tttcaattct
 gccattccat atgaccctta gaatttttat gtacatctaa aatttaaaac agtgtgctag
 acacaaactt gttgttttag aaaattaata aattttacaa attttagttt atgcataaaa
 cattttactg aatctaagca atatctttaa atttgaaatg tgcttgtttt taattattag
 tcatccaaga aaataaaatg tgacattttt aatggtagtc aaaattggat catttgcaac
 attttggtgt tattatattt ttctaaatag aattattttt cctggcatct ttagaagctt
 caataaaaca cagtgtttat tgtctgtatt tcttttctgg cctctgttat tattatttat
 gccattttaa aattattact gaaaataatc ttattgtata gggaagaaag gtgctatcag
 tggtccacac tggggtcaca cacagtaagt gagccacCAA TTTTCACACA CTTCCCATGT
 CCTCACAAGC TTTCCTTTCC TGCATCAGGG GTGGCAGCAG GGGACTGTGA TGTAGTCCGT
 GCAGAGCTGT CCTTGTCACA GGACAGAAGA GTACAGTGTT GTCCCAAATG CTCAAAAAGT
 CCCCACTAAA TGACTGTGAC ATGATTAAAA TCATCATTTT AGCAGAATGA TTTT

  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.
SourceG/G
G/T
T/T
HWPG
T
ss10477678HapMap-CEUEuropean 226IG0.079646020.256637160.663716790.020022000.207964600.79203540
HapMap-HCBAsian 86IG0.162790700.255813960.581395330.020022000.290697660.70930231
HapMap-JPTAsian 172IG0.081395350.418604640.500000001.000000000.290697660.70930231
HapMap-YRISub-Saharan African 226IG0.106194690.477876100.415929200.583882000.345132740.65486723
HAPMAP-ASW 98IG0.122448980.346938790.530612230.250592000.295918380.70408165
HAPMAP-CHBAsian 82IG0.097560970.390243890.512195110.751830000.292682920.70731705
HAPMAP-CHD 170IG0.094117650.447058830.458823531.000000000.317647070.68235296
HAPMAP-GIH 176IG0.011363640.238636360.750000000.654721000.130681810.86931819
HAPMAP-LWK 180IG0.044444450.300000010.655555550.751830000.194444450.80555558
HAPMAP-MEX 100IG 0.280000000.720000030.583882000.140000000.86000001
HAPMAP-MKK 286IG0.069930070.384615390.545454561.000000000.262237760.73776221
HAPMAP-TSI 176IG0.034090910.295454530.670454561.000000000.181818190.81818181
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss115961234YRI 2IG 1.00000000 0.500000000.50000000
ss1329997939EAS 1008AF 0.301599980.69839996
EUR 1006AF 0.168000000.83200002
AFR 1322AF 0.304800000.69519997
AMR 694AF 0.165699990.83430004
SAS 978AF 0.212699990.78729999
ss161653531ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss164744587YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss223722935pilot_1_YRI_low_coverage_panel 118AF 0.322033910.67796612
ss234450154pilot_1_CEU_low_coverage_panel 120AF 0.200000000.80000001
ss23910425AFD_EUR_PANELEuropean 48IG0.041666670.291666660.666666691.000000000.187500000.81250000
AFD_AFR_PANELAfrican American 46IG0.130434780.347826090.521739130.402784000.304347810.69565219
AFD_CHN_PANELAsian 48IG 0.666666690.333333340.099721000.333333340.66666669
ss241303993pilot_1_CHB+JPT_low_coverage_panel 120AF 0.333333340.66666669

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.364+/-0.2220000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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