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Reference SNP (refSNP) Cluster Report: rs1036819                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1514/758 (1000 Genomes)
C=0.1198/15039 (TOPMED)
HGVS Names
  • CM000670.2:g.134599702A>C
  • NC_000008.10:g.135611945A>C
  • NC_000008.11:g.134599702A>C
  • NG_016356.1:g.118348T>G
  • NM_001029939.3:c.2439+734T>G
  • NM_001167583.2:c.2439+734T>G
  • NM_001174157.1:c.2289+734T>G
  • NM_001174158.1:c.2439+734T>G
  • NM_001289394.1:c.2439+734T>G
  • NM_020863.3:c.2475+734T>G
  • NR_002438.1:n.506-554A>C
  • NR_110323.1:n.2661+734T>G
  • XR_001745568.1:n.2456+734T>G
  • XR_001745569.1:n.2456+734T>G
  • XR_001745570.1:n.2589+28T>G
  • XR_242394.1:n.2649+734T>G
  • XR_928343.2:n.2456+734T>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 ss1502905 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1036819 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
ss1502905TSC-CSHL|TSC0341728byFreqfwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg09/07/0005/17/0486Genomic95 %
ss10473980BCM_SSAHASNP|chr8.NT_028251.10_136262fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg06/29/0310/10/03116Genomicunknown
ss17206864CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_028251.11_137015fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg02/17/0403/04/04120Genomicunknown
ss19743162CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_028251.11_137015fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg02/20/0403/04/04120Genomicunknown
ss24040455PERLEGEN|afd2001508byFreqfwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg08/10/0409/13/04123Genomicunknown
ss44851755ABI|hCV9084542fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg07/19/0507/19/05126Genomicunknown
ss66665125ILLUMINA|HumanHap300v1.1_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg11/09/0611/09/06127Genomicunknown
ss66881313ILLUMINA|HumanHap550v1.1_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg11/14/0611/14/06127Genomicunknown
ss66972715ILLUMINA|HumanHap650Yv1.0_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg11/14/0611/14/06127Genomicunknown
ss70364697ILLUMINA|HumanHap300v2.0_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg04/18/0711/17/07127Genomicunknown
ss70477019ILLUMINA|HumanHap550v3.0__rs1036819rev/BG/Tcaggtgtggttctgttttaattgaatgccttttatgctacagacagcaaaaagtgaagct04/20/0703/29/08130Genomicunknown
ss71000037ILLUMINA|HumanHap650Yv3.0_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg04/23/0704/23/07127Genomicunknown
ss75598360ILLUMINA|ILMN_Human_1M_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg08/28/0708/29/07129Genomicunknown
ss83669776KRIBB_YJKIM|KHS515230fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg12/04/0712/05/07130Genomicunknown
ss121299925ILLUMINA|HumanCNV370v1_C_rs1036819fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg04/14/0904/14/09131Genomicunknown
ss152715945ILLUMINA|Human610_Quadv1_B_rs1036819-128_B_R_1501621463rev/BG/Tcaggtgtggttctgttttaattgaatgccttttatgctacagacagcaaaaagtgaagct06/18/0906/19/09131Genomicunknown
ss159121612ILLUMINA|Human660W-Quad_v1_A_rs1036819-128_B_R_1501621463rev/BG/Tcaggtgtggttctgttttaattgaatgccttttatgctacagacagcaaaaagtgaagct07/06/0907/06/09131Genomicunknown
ss161614399ENSEMBL|ENSSNP2755103byFreqfwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg09/24/0903/07/10131Genomicunknown
ss169367259ILLUMINA|HumanCNV370-Quadv3_C_rs1036819-128_B_R_1501621463rev/BG/Tcaggtgtggttctgttttaattgaatgccttttatgctacagacagcaaaaagtgaagct10/01/0910/02/09132Genomicunknown
ss170011244ILLUMINA|Human1M-Duov3_B_rs1036819-128_B_R_1501621463rev/BG/Tcaggtgtggttctgttttaattgaatgccttttatgctacagacagcaaaaagtgaagct10/01/0910/01/09132Genomicunknown
ss199843038BUSHMAN|BUSHMAN-chr8-135681126fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg02/16/1003/06/10132Genomicunknown
ss2240119211000GENOMES|pilot_1_YRI_5821604_chr8_135681127fwd/A/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg04/22/1004/22/10132Genomicunknown
ss2346512811000GENOMES|pilot_1_CEU_4255910_chr8_135681127fwd/A/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg05/01/1005/01/10132Genomicunknown
ss2414595281000GENOMES|pilot_1_CHB+JPT_3344605_chr8_135681127fwd/A/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg05/01/1005/01/10132Genomicunknown
ss280026700GMI|GMI_AK_SNP_4346971fwd/A/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg12/16/1012/16/10137Genomicunknown
ss484038283ILLUMINA|HumanOmni2.5-4v1_D_kgp8152699-0_B_R_1822241808fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac01/30/1210/28/16137Genomicunknown
ss485553756ILLUMINA|HumanOmni2.5-4v1_B_SNP8-135681127-0_B_R_1628075373fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac01/30/1210/29/16137Genomicunknown
ss491417538EXOME_CHIP|.GWAS._133764_chr_8_135611945fwd/TA/Cagcttcactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccacacctg03/05/1203/05/12137Genomicunknown
ss536229785ILLUMINA|HumanOmni5-4v1_B_kgp8152699-0_B_R_1822241808fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac06/22/1208/29/15146Genomicunknown
ss561107055TISHKOFF|snp_chr8_135611945fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/22/1211/23/12138Genomicunknown
ss655540630SSMP|8_135611945fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac12/14/1202/12/15138Genomicunknown
ss780502913ILLUMINA|HumanOmni25Exome-8v1_A_kgp8152699-0_B_R_1822241808fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/30/1307/10/15146Genomicunknown
ss780680410ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/30/1307/10/15146Genomicunknown
ss782463749ILLUMINA|HumanOmni2.5-4v1_H_kgp8152699-0_B_R_1822241808fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/30/1307/29/15146Genomicunknown
ss783353687ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/31/1306/19/15146Genomicunknown
ss825334428ILLUMINA|HumanCNV370v1_C_rs1036819-126_B_R_IFB1152226037:0fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac06/24/1311/21/14144Genomicunknown
ss835993904ILLUMINA|HumanOmni2.5-8v1_A_kgp8152699-0_B_R_1822241808fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac09/18/1307/29/15146Genomicunknown
ss986115376EVA-GONL|EVA-GONL_rs1036819fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac04/23/1404/25/14142Genomicunknown
ss1075961443JMKIDD_LAB|HGDP_WGS_chr8_135611945fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac07/10/1407/11/14142Genomicunknown
ss13321310031000GENOMES|PHASE3_V1_44572213fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac08/16/1408/16/14142Genomicunknown
ss1431688886DDI|DDI_rs1036819fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/04/1411/05/14144Genomicunknown
ss1582909609EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1036819fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/19/1502/20/15144Genomicunknown
ss1595734267EVA_DECODE|EVA_DECODE_8_135681127_1112994_rs1036819fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac03/02/1503/03/15144Genomicunknown
ss1621852847EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_135611945_24677985fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac03/04/1503/04/15144Genomicunknown
ss1664846880EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_135611945_24677985fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac03/04/1503/04/15144Genomicunknown
ss1713075707EVA_SVP|EVA_SVP_770074fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac03/12/1503/12/15144Genomicunknown
ss1752715191ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/27/1506/09/15146Genomicunknown
ss1917832258ILLUMINA|HumanExome-12v1-1_B_exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac10/16/1510/16/15147Genomicunknown
ss1929389811WEILL_CORNELL_DGM|SNV:chr8:135611945fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac10/16/1510/17/15147Genomicunknown
ss1946248088ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac10/29/1510/29/15147Genomicunknown
ss1959147508ILLUMINA|exm-rs1036819-131_B_R_1990477801fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/13/1511/13/15147Genomicunknown
ss1971106745GENOMED|rs1036819fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/16/1602/16/16147Genomicunknown
ss2025399095JJLAB|SNP5901650fwd/TA/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac08/29/1608/30/16149Genomicunknown
ss2153628391USC_VALOUEV|NC_000008.10:g.135611945A>Cfwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/17/1611/17/16150Genomicunknown
ss2307828547HUMAN_LONGEVITY|HLI-8-134599702-A-Cfwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/18/1611/18/16150Genomicunknown
ss2477811404TOPMED|8_135611945_A/Cfwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac11/20/1611/20/16150Genomicunknown
ss2627174035SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3756037fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac01/06/1701/06/17151Genomicunknown
ss2634811464ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp8152699-0_B_R_182224180fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/02/1702/02/17151Genomicunknown
ss2634811465ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1036819-131_B_R_18854708fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/02/1702/02/17151Genomicunknown
ss2634811466ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1036819-131_B_R_2130fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/02/1702/02/17151Genomicunknown
ss2709416667GRF|rs1036819fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac02/13/1702/13/17151Genomicunknown
ss2873299141GNOMAD|rs1036819fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/19/1705/19/17151Genomicunknown
ss2985450060AFFY|Axiom_PsorMich_Affx-31647335fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/24/1705/24/17151Genomicunknown
ss3004084537SWEGEN|NC_000008.10:g.135611945A>Cfwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac05/30/1705/30/17151Genomicunknown
ss3022888428ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1036819-131_B_R_1990477801fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac06/28/1706/28/17151Genomicunknown
ss3026486464BIOINF_KMB_FNS_UNIBA|8.134599702A>Cfwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac07/05/1707/05/17151Genomicunknown
ss3348432236CSHL|rs1036819fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac10/02/1710/02/17151Genomicunknown
ss3577146291TOPMED|TOPMed_freeze_5?chr8:134,599,702fwd/A/Ccactttttgctgtctgtagcataaaaggcattcaattaaaacagaaccac10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1036819|allelePos=297|totalLen=1228|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 TGTGTGTGGA TGTATATAAA ATAGATTTTT TAAAAATATG TATCTTATAC AGAAGGCTAT
 TTCATACAGG TCTcagggaa gacaagtgac ttgcccaagg ccacagggcc tgtgagagtg
 ttggagacag tgtttgaatc caggtatcca accccaaagc ccatgctctg acctactCAC
 CACACCCAAA CACCTGACTT TACCCTTAGT GACAAACTGT TATGATTTTT ATGCCAGGAA
 ACCATGGTAG CACATCAAAT GTCTGAAGCT TCACTTTTTG CTGTCTGTAG CATAAA
 M
 AGGCATTCAA TTAAAACAGA ACCACACCTG GGGCCAGATG TGCTTCCTTT ATAACTTGAA
 GAAGTCTCAA ATCACTCTCA GGTGTCAGCC TCTTGAGTTA GATTAGAATT TGCAAAAATA
 AGCATTCATT CATTGTGTTA CAAGATCCTC CACCAAAGAC CTAAAGAAAT TTACCTTTGT
 GAATATTAAC AGCATATTGA ATTAACATTT CACTTTTTTA AAATAAACGT GCTTCAAAGA
 CATTCTCTCC CAGAGACTAA AATAAATAAC ACAAAACTGT GACAACAGTG GTCATCAACA
 TCTACTATGC TCTTACTCTG AACCAAATAC TGTTCTCATC ACTGTACAGC ATTATCTAAT
 TCAACCTCTC AACCACGTTC AGTAGGAGCT ATTACTGTTA TCTCTGCTAT TAATTATTCT
 TTAAAATGTC ATTTGAGAAA TTCTGACTTT ACTTCTACTC TATAGATATC TCTTCTGTAG
 ACTTTATCTG ATGCTAAAAA AATTTGCACA GGAAACAATT TATTCCATCT AATCTCTTTT
 TTCAACGTAT TAGAGACTCT TGCTGTGAAA GGAACCTGGG AAGCCTCTGC CACGTGCACA
 GCTGTGTAAG GAGAAGGATC TCTCTATGTT TTCAGGGCTG ACCTGCAGCA GAGACACCTA
 CATATAAGCA TAAACTTGAG AAAGCAATGA GCACCCAGGG GAGACGGGGC TGCCGCTTGG
 GCTTGCTACT TACCAGTGCT GTGTGAACTT TAAGATGTGC CTGTAGCTTA TATTTATCTG
 GAGTTGAGTA GTCACAGCCA TCGGTGGGAC ACTTCAGCAA GATGTTACTG TGTTTCTGAA
 TTACGTGGCG TTTAAGGCAG TTTTTGGTGA TGGAAGAATA ATGACACTGA GAGCAATAAT
 ACAGATGTTC CCGGGTGTGG GTGCGGACAT G

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_028251
dbSNP Blast Analysis
UniGene Cluster ID
446172

  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
ss1332131003EAS 1008AF 0.654800000.34520000
EUR 1006AF 0.892600000.10740000
AFR 1322AF 0.939500030.06050000
AMR 694AF 0.903499960.09650000
SAS 978AF 0.841499980.15850000
ss1502905HapMap-CEUEuropean 226IG0.761061970.221238940.017699111.000000000.871681390.12831858
HapMap-HCBAsian 84IG0.452380960.404761910.142857150.527089000.654761910.34523809
HapMap-JPTAsian 172IG0.348837200.511627910.139534890.527089000.604651150.39534885
HapMap-YRISub-Saharan African 226IG0.849557520.15044248 0.751830000.924778760.07522124
HAPMAP-ASW 98IG0.938775540.06122449 1.000000000.969387770.03061225
HAPMAP-CHBAsian 82IG0.487804890.390243890.121951220.527089000.682926830.31707317
HAPMAP-CHD 170IG0.423529420.482352940.094117650.479500000.664705870.33529413
HAPMAP-GIH 176IG0.806818190.181818190.011363641.000000000.897727250.10227273
HAPMAP-LWK 180IG0.877777760.12222222 1.000000000.938888910.06111111
HAPMAP-MEX 100IG0.779999970.200000000.020000000.751830000.880000000.12000000
HAPMAP-MKK 286IG0.748251740.237762240.013986010.751830000.867132840.13286713
HAPMAP-TSI 176IG0.784090940.181818190.034090910.150222000.875000000.12500000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss161614399ENSEMBL_celera 6IG0.33333334 0.66666669 0.333333340.66666669
ss224011921pilot_1_YRI_low_coverage_panel 118AF 0.932203410.06779661
ss234651281pilot_1_CEU_low_coverage_panel 120AF 0.891666650.10833333
ss24040455AFD_EUR_PANELEuropean 48IG0.833333310.16666667 1.000000000.916666690.08333334
AFD_AFR_PANELAfrican American 44IG0.863636370.13636364 1.000000000.931818190.06818182
AFD_CHN_PANELAsian 48IG0.250000000.625000000.125000000.200325000.562500000.43750000
ss241459528pilot_1_CHB+JPT_low_coverage_panel 120AF 0.608333350.39166668

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.257+/-0.2500000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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