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Reference SNP (refSNP) Cluster Report: rs12608932                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
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=0.4339/2173 (1000 Genomes)
C=0.3614/45380 (TOPMED)
HGVS Names
  • CM000681.2:g.17641880A>C
  • NC_000019.10:g.17641880A>C
  • NC_000019.9:g.17752689A>C
  • NG_052872.1:g.51465T>G
  • NM_001080421.2:c.2473-324T>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 ss283144076 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12608932 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
ss20063642CSHL-HAPMAP|CSHL-HuFF-200402.chr19.NT_011295.10_9015491byFreqfwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac02/21/0405/17/04120Genomicunknown
ss21541956SSAHASNP|WGSA-200403-chr19.chr19.NT_011295.10_9015491fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac03/20/0403/20/04121Genomicunknown
ss66574345ILLUMINA|HumanHap300v1.1_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac11/09/0611/09/06127Genomicunknown
ss67024903ILLUMINA|HumanHap550v1.1_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac11/14/0611/14/06127Genomicunknown
ss67346914ILLUMINA|HumanHap650Yv1.0_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac11/14/0611/14/06127Genomicunknown
ss69225242PERLEGEN|PGP09651541byFreqfwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac01/30/0703/31/08127Genomicunknown
ss70413160ILLUMINA|HumanHap300v2.0_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac04/18/0711/18/07127Genomicunknown
ss70577402ILLUMINA|HumanHap550v3.0__rs12608932rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg04/20/0703/30/08130Genomicunknown
ss71119071ILLUMINA|HumanHap650Yv3.0_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac04/23/0704/23/07127Genomicunknown
ss74958122ILLUMINA|ILMN_Human_1M_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac08/28/0708/29/07129Genomicunknown
ss85249255KRIBB_YJKIM|KHS940366fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac12/04/0712/08/07130Genomicunknown
ss103427746BGI|BGI_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac06/06/0806/17/09131Genomicunknown
ss1111480091000GENOMES|CEU.trio.12.15.2008_3589956_chr19_17613689fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac12/17/0812/17/08130Genomicunknown
ss121584874ILLUMINA|HumanCNV370v1_C_rs12608932fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac04/14/0904/14/09131Genomicunknown
ss153245926ILLUMINA|Human610_Quadv1_B_rs12608932-127_B_R_1501645300rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg06/18/0906/19/09131Genomicunknown
ss155674850GMI|GMI_SNP_74071722fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac06/24/0906/24/09131Genomicunknown
ss159226891ILLUMINA|Human660W-Quad_v1_A_rs12608932-128_B_R_1501645300rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg07/06/0907/06/09131Genomicunknown
ss160287186ILLUMINA|HumanOmni1-Quad_v1-0_B_rs12608932-128_B_R_1501645300rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg08/04/0910/02/09131Genomicunknown
ss167896994COMPLETE_GENOMICS|NA07022_36_chr19_17613689fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac09/30/0909/30/09132Genomicunknown
ss170180089ILLUMINA|HumanCNV370-Quadv3_C_rs12608932-127_B_R_1501645300rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg10/01/0910/03/09132Genomicunknown
ss172182815ILLUMINA|Human1M-Duov3_B_rs12608932-127_B_R_1501645300rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg10/01/0910/02/09132Genomicunknown
ss203695608BUSHMAN|BUSHMAN-chr19-17613688fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac02/16/1003/09/10132Genomicunknown
ss208381682BCM-HGSC-SUB|BCM_CMT_1011-3084823fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac03/15/1003/19/10132Genomicunknown
ss209085214ILLUMINA|ALS_iSelect_272541_A_rs12608932-127_B_R_IFB1223181138rev/BG/Tgtggctggtggacagacgaaaaatggatggtggataaattgatgggtggatggatggttg03/24/1003/24/10132Genomicunknown
ss2280653111000GENOMES|pilot_1_YRI_9874994_chr19_17613689fwd/A/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac04/22/1004/22/10132Genomicunknown
ss2376203731000GENOMES|pilot_1_CEU_7225002_chr19_17613689fwd/A/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac05/01/1005/01/10132Genomicunknown
ss2438385071000GENOMES|pilot_1_CHB+JPT_5723584_chr19_17613689fwd/A/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac05/01/1005/01/10132Genomicunknown
ss255534678BL|SNP23064_19_17613689fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac08/20/1008/20/10134Genomicunknown
ss283144076GMI|GMI_AK_SNP_7464495fwd/A/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac12/16/1012/16/10137Genomicunknown
ss479785065ILLUMINA|HumanOmni2.5-4v1_B_rs12608932-128_B_R_1770543941fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca01/30/1210/28/16137Genomicunknown
ss479791567ILLUMINA|HumanOmniExpress-12v1_C_rs12608932-131_B_R_1857455954fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca01/30/1210/27/16137Genomicunknown
ss480365544ILLUMINA|HumanOmni1-Quad_v1-0_C_rs12608932-131_B_R_1865281728fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca01/30/1208/28/15146Genomicunknown
ss484690953ILLUMINA|HumanOmni2.5-4v1_D_rs12608932-131_B_R_1857455954fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca01/30/1210/28/16137Genomicunknown
ss491543097EXOME_CHIP|.GWAS._259323_chr_19_17752689fwd/TA/Ccaaccatccatccacccatcaatttatccaccatccatttttcgtctgtccaccagccac03/05/1203/06/12137Genomicunknown
ss536799746ILLUMINA|HumanOmni5-4v1_B_rs12608932-131_B_R_1885471738fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca06/22/1208/29/15146Genomicunknown
ss565888149TISHKOFF|snp_chr19_17752689fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/22/1211/23/12138Genomicunknown
ss661744606SSMP|19_17752689fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca12/14/1202/14/15138Genomicunknown
ss778411792ILLUMINA|HumanOmni25Exome-8v1_A_rs12608932-131_B_R_1865281728fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/30/1307/10/15146Genomicunknown
ss782792261ILLUMINA|HumanOmni2.5-4v1_H_rs12608932-131_B_R_1857455954fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/30/1307/29/15146Genomicunknown
ss783757945ILLUMINA|HumanOmniExpressExome-8v1_A_rs12608932-131_B_R_1885471738fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/31/1306/19/15146Genomicunknown
ss825382434ILLUMINA|HumanCNV370v1_C_rs12608932-121_B_R_IFB1135169698:0fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca06/24/1311/21/14144Genomicunknown
ss832045047ILLUMINA|HumanOmniExpress-12v1_H_rs12608932-131_B_R_1857455954fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca09/17/1306/18/15146Genomicunknown
ss833867078ILLUMINA|HumanOmni2.5-8v1_A_rs12608932-131_B_R_1865281728fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca09/18/1307/29/15146Genomicunknown
ss994143788EVA-GONL|EVA-GONL_rs12608932fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca04/23/1405/01/14142Genomicunknown
ss13625694571000GENOMES|PHASE3_V1_76268152fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca08/16/1408/16/14142Genomicunknown
ss1397755529HAMMER_LAB|HAMMER_LAB_rs12608932fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca09/30/1409/30/14146Genomicunknown
ss1428352798DDI|DDI_rs12608932fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/04/1411/04/14144Genomicunknown
ss1578577817EVA_GENOME_DK|EVA_GENOME_DK_snv_rs12608932fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/19/1502/20/15144Genomicunknown
ss1637668003EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_17752689_42077065fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca03/04/1503/04/15144Genomicunknown
ss1680662036EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_17752689_42077065fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca03/04/1503/04/15144Genomicunknown
ss1713654058EVA_SVP|EVA_SVP_1348137fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca03/12/1503/12/15144Genomicunknown
ss1752276743ILLUMINA|OmniExpressExome-8v1-1_B_rs12608932-131_B_R_1885471738fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/27/1506/09/15146Genomicunknown
ss1809236135HAMMER_LAB|Hsieh_8265664fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca07/15/1507/16/15146Genomicunknown
ss1937630949WEILL_CORNELL_DGM|SNV:chr19:17752689fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca10/16/1510/19/15147Genomicunknown
ss1959849130ILLUMINA|rs12608932-138_B_R_2264354950fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/13/1511/13/15147Genomicunknown
ss1968614298GENOMED|rs12608932fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/16/1602/16/16147Genomicunknown
ss2029588661JJLAB|SNP10091216fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca08/29/1608/31/16149Genomicunknown
ss2094803756ILLUMINA|Immuno_BeadChip_11419691_B_rs12608932-131_B_R_1865281728fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca09/27/1609/27/16150Genomicunknown
ss2095083742ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs12608932-131_B_R_1865281728fwd/TA/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca09/27/1609/27/16150Genomicunknown
ss2158116581USC_VALOUEV|NC_000019.9:g.17752689A>Cfwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/17/1611/17/16150Genomicunknown
ss2224723827HUMAN_LONGEVITY|HLI-19-17641880-A-Cfwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/18/1611/18/16150Genomicunknown
ss2390209419TOPMED|19_17752689_A/Cfwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca11/19/1611/19/16150Genomicunknown
ss2629292849SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6441056fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca01/06/1701/06/17151Genomicunknown
ss2633524470ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs12608932-131_B_R_213fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/02/1702/02/17151Genomicunknown
ss2633524471ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs12608932-131_B_R_1885471fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/02/1702/02/17151Genomicunknown
ss2633524472ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs12608932-131_B_R_213fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/02/1702/02/17151Genomicunknown
ss2702721039GRF|rs12608932fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca02/13/1702/13/17151Genomicunknown
ss2961103242GNOMAD|rs12608932fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/23/1705/23/17151Genomicunknown
ss2985136069AFFY|Axiom_PsorMich_Affx-15629035fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/24/1705/24/17151Genomicunknown
ss2985768069AFFY|Axiom_Smokesc1_Affx-15629035fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/24/1705/24/17151Genomicunknown
ss3017196865SWEGEN|NC_000019.9:g.17752689A>Cfwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca05/30/1705/30/17151Genomicunknown
ss3021889752ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs12608932-138_B_R_2264354950fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca06/28/1706/28/17151Genomicunknown
ss3028626840BIOINF_KMB_FNS_UNIBA|19.17641880A>Cfwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca07/05/1707/05/17151Genomicunknown
ss3289341909TOPMED|TOPMed_freeze_5?chr19:17,641,880fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca10/02/1710/02/17151Genomicunknown
ss3352225259CSHL|rs12608932fwd/A/Catccatccacccatcaatttatccaccatccatttttcgtctgtccacca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12608932|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 CCTGCAGTCT CACGTCATGG CTTGGTAGAT GGACTCGACG CCGTAGCGCA TGGCAAACTC
 GTCCACAATC TCCTGGGCTG TCTCATCGTA GTAAACCTTC CAGGCATCGT CACCCTTGGC
 ATCTGGGATC TTCACGACCC CATTGTTCTG CACGTCGGTC ACGAAGTGGA ACAGGTTCTG
 CCACCATGGG AGAGAAAGTG TCATGGAGAG TGCAAGGGGT CGCCGGGGGT CAGAGGTCCC
 AGGGTCTGGG GCAGCTTACA TCATCCATCT GCCTGTTTAT TCATTAATTC ATTCATCTAC
 TCTTTTATCC ATCCACACAC CCACCCATCT AACTACCCCA AATTTCACCC ATCCACTCTT
 CCAACCTTTC AGTAATTCAA CCACACATCC ATCCATCCAT CCATTCATCC ATCCCATACA
 TTGATCCGCA ACTTAATCCA CCTACCCAAT CATTCATTCT TTCATACAAC CAACCATCCA
 TCCACCCATC AATTTATCCA
 M
 CCATCCATTT TTCGTCTGTC CACCAGCCAC TCACAACCAT CCATCTAAAT ATTCAGAAAT
 TATGAACCCA ATTATCAATA CTTGCAATAG TTCAACCACA CATCCTTCCA TTCATCCACC
 CACCCATTCA TCCATTTGTC CATCTGCCTA TACATCCATC CATCCATCCA TCCATCTACC
 TATCTACCCA TCTGACTATC AACAAATTCA CCTATCTACT CAATCTTCCT TCTAATAACT
 CAACCACACT TCCATCCATC CCATCCAATA CAACTTAATC TGCTCATCCA ACATTTCATC
 TATCCACCCA GTCAATCATC TATCCAGCAA TCTATCTATC CACTCATCAA GTTATCCATC
 CATCATTCAT CTATACTCAT CCATCATCTA ACAATTACCC CCAAATTCAC CCATCCATAC
 ATCTATACTT TCAATAGTTC AATCATATAT CCATCCATCT GTCCATCCAT CCATCATCCA
 TCTAGCCACG AATCTACCCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011295
dbSNP Blast Analysis
OMIM
105400

  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
ss1362569457EAS 1008AF 0.303600010.69639999
EUR 1006AF 0.651099980.34890002
AFR 1322AF 0.670199990.32980001
AMR 694AF 0.695999980.30399999
SAS 978AF 0.516400040.48359999
ss167896994CEUEuropean 2IG 1.00000000 1.00000000
ss20063642HapMap-CEUEuropean 226IG0.433628320.442477880.123893801.000000000.654867230.34513274
HapMap-HCBAsian 86IG0.023255810.279069780.697674391.000000000.162790700.83720928
HapMap-JPTAsian 172IG0.034883720.279069780.686046541.000000000.174418600.82558137
HapMap-YRISub-Saharan African 226IG0.433628320.415929200.150442480.317310000.641592920.35840708
HAPMAP-ASW 98IG0.387755100.469387770.142857151.000000000.622448980.37755102
HAPMAP-CHBAsian 82IG0.097560970.414634140.487804891.000000000.304878060.69512194
HAPMAP-CHD 170IG0.105882350.458823530.435294121.000000000.335294130.66470587
HAPMAP-GIH 176IG0.295454530.477272720.227272730.751830000.534090940.46590909
HAPMAP-LWK 180IG0.544444440.400000010.055555560.654721000.744444430.25555557
HAPMAP-MEX 100IG0.460000010.400000010.140000000.479500000.660000030.34000000
HAPMAP-MKK 286IG0.538461570.384615390.076923081.000000000.730769220.26923078
HAPMAP-TSI 176IG0.500000000.397727280.102272730.654721000.698863630.30113637
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss203695608BANTU 2IG 1.00000000 0.500000000.50000000
ss228065311pilot_1_YRI_low_coverage_panel 118AF 0.652542350.34745762
ss237620373pilot_1_CEU_low_coverage_panel 120AF 0.666666690.33333334
ss243838507pilot_1_CHB+JPT_low_coverage_panel 120AF 0.183333340.81666666
ss69225242HapMap-CEUEuropean 120IG0.533333360.349999990.116666670.250592000.708333310.29166666
HapMap-HCBAsian 90IG0.022222220.266666680.711111131.000000000.155555560.84444445
HapMap-JPTAsian 90IG0.044444450.444444450.511111140.371093000.266666680.73333335
HapMap-YRISub-Saharan African 120IG0.449999990.400000010.150000010.371093000.649999980.34999999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.491+/-0.0660000ALFRED: 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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