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Reference SNP (refSNP) Cluster Report: rs10845281                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
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:C=0.4115/49930 (ExAC)
C=0.4229/2118 (1000 Genomes)
C=0.2659/3458 (GO-ESP)
C=0.3038/38144 (TOPMED)
HGVS Names
  • CM000674.2:g.10997170T>A
  • CM000674.2:g.10997170T>C
  • CM000674.2:g.10997170T>G
  • NC_000012.11:g.11149769T>A
  • NC_000012.11:g.11149769T>C
  • NC_000012.12:g.10997170T>A
  • NC_000012.12:g.10997170T>C
  • NC_000012.12:g.10997170T>G
  • NG_051254.1:g.6135A>C
  • NG_051254.1:g.6135A>G
  • NG_051254.1:g.6135A>T
  • NM_001291314.1:c.-125-23449A>C
  • NM_001291314.1:c.-125-23449A>G
  • NM_001291314.1:c.-125-23449A>T
  • NM_001291315.1:c.37-23449A>C
  • NM_001291315.1:c.37-23449A>G
  • NM_001291315.1:c.37-23449A>T
  • NM_001316893.1:c.141-23449A>C
  • NM_001316893.1:c.141-23449A>G
  • NM_001316893.1:c.141-23449A>T
  • NM_176889.3:c.706A>C
  • NM_176889.3:c.706A>G
  • NM_176889.3:c.706A>T
  • NP_795370.2:p.Ile236Leu
  • NP_795370.2:p.Ile236Val
  • NR_037918.2:n.478-23449A>C
  • NR_037918.2:n.478-23449A>G
  • NR_037918.2:n.478-23449A>T
  • NR_133575.1:n.372-23449A>C
  • NR_133575.1:n.372-23449A>G
  • NR_133575.1:n.372-23449A>T
  • NT_187658.1:g.195865T>A
  • NT_187658.1:g.195865T>C
  • NT_187658.1:g.195865T>G
  • NW_003571047.1:g.195876T>A
  • NW_003571047.1:g.195876T>C
  • NW_003571050.1:g.195876T>A
  • NW_003571050.1:g.195876T>C
  • NW_003571050.1:g.195876T>G
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 ss281274071 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10845281 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
ss16219936SC_SNP|NT_009714.16_3908743fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt11/18/0311/22/03120Genomicunknown
ss18538715SC_SNP|SC-CHR9-12_NA11321-200402.chr12.NT_009714.16_3908743fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt02/20/0403/04/04120Genomicunknown
ss18782021SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3908743fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt02/20/0403/04/04120Genomicunknown
ss20875066SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3908743fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt03/19/0403/19/04121Genomicunknown
ss38948109ABI|hCV12107336byFreqfwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt07/16/0511/02/06126Genomicunknown
ss69100749PERLEGEN|PGP04764185byFreqfwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt01/30/0703/31/08127Genomicunknown
ss74810293AFFY|SNP_M-183944fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt08/09/0708/09/07128Genomicunknown
ss97286307HUMANGENOME_JCVI|1103649367107fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt03/28/0803/28/08130Genomicunknown
ss106787101BGI|BGI_rs10845281fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt09/16/0810/21/09130Genomicunknown
ss1114829911000GENOMES|CEU.trio.12.15.2008_2677049_chr12_11041036fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt12/17/0812/17/08130Genomicunknown
ss157110088GMI|GMI_SNP_31701991fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt06/24/0906/25/09131Genomicunknown
ss159725712SEATTLESEQ|TAS2R49-11041036fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt07/10/0907/10/09131Genomicunknown
ss167786928COMPLETE_GENOMICS|NA07022_36_chr12_11041036fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt09/30/0909/30/09132Genomicunknown
ss170400899COMPLETE_GENOMICS|NA20431_36_chr12_11041036fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt10/01/0910/05/09132Genomicunknown
ss203546864BUSHMAN|BUSHMAN-chr12-11041035fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt02/16/1003/09/10132Genomicunknown
ss2256053031000GENOMES|pilot_1_YRI_7414986_chr12_11041036fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt04/22/1004/22/10132Genomicunknown
ss2358223441000GENOMES|pilot_1_CEU_5426973_chr12_11041036fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt05/01/1005/01/10132Genomicunknown
ss2424014591000GENOMES|pilot_1_CHB+JPT_4286536_chr12_11041036fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt05/01/1005/01/10132Genomicunknown
ss281274071GMI|GMI_AK_SNP_5594460fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt12/16/1012/16/10137Genomicunknown
ss286505820GMI|GMI_NA10851_SNP_2518611fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt12/17/1012/17/10138Genomicunknown
ss291379783PJP|SNP_886141_chr12_11041036fwd/C/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt01/21/1101/21/11134Genomicunknown
ss342349976NHLBI-ESP|ESP2500-chr12-11149769byFreqfwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt03/25/1109/05/14134Genomicunknown
ss4910371021000GENOMES|20110521_exome_544900_chr12_11149769fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt02/10/1202/22/12137Genomicunknown
ss491464356EXOME_CHIP|nonsyn_180582_chr_12_11149769fwd/BC/Tttagacacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcagagcttt03/05/1203/05/12137Genomicunknown
ss491660644CLINSEQ_SNP|SNV-chr12-11041036byFreqfwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/06/1209/05/14137Genomicunknown
ss562992196TISHKOFF|snp_chr12_11149769fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/22/1211/23/12138Genomicunknown
ss658523783SSMP|12_11149769fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga12/14/1202/13/15138Genomicunknown
ss780908148ILLUMINA|HumanOmni25Exome-8v1_A_exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/30/1307/10/15142Genomicunknown
ss783595598ILLUMINA|HumanOmniExpressExome-8v1_A_exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/31/1306/18/15142Genomicunknown
ss989237362EVA-GONL|EVA-GONL_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga04/23/1404/25/14142Genomicunknown
ss1067531714JMKIDD_LAB|HGDP_exomes_chr12_11149769fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga07/09/1407/09/14142Genomicunknown
ss1078246121JMKIDD_LAB|HGDP_WGS_chr12_11149769fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga07/10/1407/12/14142Genomicunknown
ss13439097571000GENOMES|PHASE3_V1_56825432fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga08/16/1408/16/14142Genomicunknown
ss1397625642HAMMER_LAB|HAMMER_LAB_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga09/30/1409/30/14146Genomicunknown
ss1426843538DDI|DDI_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/04/1411/04/14144Genomicunknown
ss1576112910EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga02/19/1502/19/15144Genomicunknown
ss1584080361EVA_FINRISK|EVA_FINRISK_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga02/27/1502/27/15144Genomicunknown
ss1598906632EVA_DECODE|EVA_DECODE_12_11041036_86053_rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/02/1503/04/15144Genomicunknown
ss1628011343EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11149769_31435913fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/04/1503/04/15144Genomicunknown
ss1671005376EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11149769_31435913fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/04/1503/04/15144Genomicunknown
ss1690795229EVA_EXAC|EVA_EXAC_6012446fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/04/1503/04/15144Genomicunknown
ss1690795230EVA_EXAC|EVA_EXAC_6012447fwd/A/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/04/1503/04/15144Genomicunknown
ss1711321238EVA_MGP|EVA_XIMO_436998fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga03/09/1503/09/15144Genomicunknown
ss1752046424ILLUMINA|OmniExpressExome-8v1-1_B_exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/27/1506/09/15146Genomicunknown
ss1807119920HAMMER_LAB|Hsieh_6140777fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga07/15/1507/16/15146Genomicunknown
ss1917870885ILLUMINA|HumanExome-12v1-1_B_exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga10/16/1510/16/15147Genomicunknown
ss1932602910WEILL_CORNELL_DGM|SNV:chr12:11149769fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga10/16/1510/17/15147Genomicunknown
ss1946331632ILLUMINA|HumanCoreExome-12v1-0_C_exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga10/29/1510/29/15147Genomicunknown
ss1959413366ILLUMINA|exm984284-0_B_F_1922563513fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/13/1511/13/15147Genomicunknown
ss1967522456GENOMED|rs10845281fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga02/16/1602/16/16147Genomicunknown
ss2027045968JJLAB|SNP7548523fwd/BC/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga08/29/1608/30/16149Genomicunknown
ss2155368696USC_VALOUEV|NC_000012.11:g.11149769T>Cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/17/1611/17/16150Genomicunknown
ss2187770072HUMAN_LONGEVITY|HLI-12-10997170-T-Cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/18/1611/18/16150Genomicunknown
ss2351407812TOPMED|12_11149769_T/Cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga11/19/1611/19/16150Genomicunknown
ss2628001757SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795774fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga01/06/1701/06/17151Genomicunknown
ss2699693762GRF|rs10845281fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga02/13/1702/13/17151Genomicunknown
ss2739639269GNOMAD|exomes_rs10845281fwd/A/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/17/1705/17/17151Genomicunknown
ss2748815234GNOMAD|coding_rs10845281fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/17/1705/17/17151Genomicunknown
ss2907331378GNOMAD|rs10845281fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/22/1705/22/17151Genomicunknown
ss2984968003AFFY|Axiom_PsorMich_Affx-6877593fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/24/1705/24/17151Genomicunknown
ss2985610395AFFY|Axiom_Smokesc1_Affx-6877593fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/24/1705/24/17151Genomicunknown
ss3009203923SWEGEN|NC_000012.11:g.11149769T>Cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga05/30/1705/30/17151Genomicunknown
ss3023067420EVA_SAMSUNG_MC|EXOMES.12:g11149769t>cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga07/03/1707/03/17151Genomicunknown
ss3027327556BIOINF_KMB_FNS_UNIBA|12.10997170T>Cfwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga07/05/1707/05/17151Genomicunknown
ss3162930328TOPMED|TOPMed_freeze_5?chr12:10,997,170-01fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga09/30/1709/30/17151Genomicunknown
ss3162930329TOPMED|TOPMed_freeze_5?chr12:10,997,170-02fwd/G/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga09/30/1709/30/17151Genomicunknown
ss3349923133CSHL|rs10845281fwd/C/Tcacagaaagtaaatggcaagtaatagaggaaggaggtcacagtttgcaga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10845281|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 TTTGGTATAA CTGAACAGTT TATATGAAAA GTTGATTAAA GGTATGTTAT GGTAAATATT
 AAATTTTCAT ATACATTCAG ACATACACAC ACACGCAAAT GTATATTATA TATATATACT
 TTTATATAAT AAACTTAGGT AAAAGACTTT TCTATGTCAA CTTTTGGAAA TTACTCAAAT
 ACATAGACTA CGGAAAAACT TGTGGGAAAT ATAAAATGTT CCAGACACCA TCAATTTGTT
 TTCTGCTAGA AAACACACAA TGCACCTCTT GTGAATCTAT GGAGTTGACT GGTTCTGTCC
 TTTTGCCCAG CAAGTCACCT GCCACAAAAC TGAAAGAAAG GTCTGCTTTA GCGTCTTGTT
 CCCCCAAATC AGAATGAATG AGTGGAATGA TGGATATATG ATTCCAAAAG CTTGGCAAAG
 CATTAAGACA ATTTCTTTTG GTCGCATCTT AAAATTCCAA AACGATATGA TTAGACACAG
 AAAGTAAATG GCAAGTAATA
 N
 GAGGAAGGAG GTCACAGTTT GCAGAGCTTT TATGTGGATC TTGGTGCTGG GATCTTGAGA
 TCCTTTGCCA TGGAGCTGCA TCTTCTTCAG ATGTTTACAC AGAGAGTAGA TTAACAGCAG
 AAAAGATATC AGGGTCAGAG TGAATGGTAT CAAGTTTGCT AGCATGGCTA CAGTCAAGTT
 GGAAAGGTGC ATTGCATTCC TCAGTTTGAT CTTCCAAGTT ACGTTTCCTT CACATTCTTC
 TGTCCACACA TTTATATACG TGTGTTTCAT CACAAGGTGA CAAACCAAAA AGAACAAAGA
 CCCCAACACT ATCACCAGAA CTACACTCTT AGCCTTCCTT TTTAAGTGAT GAAAAATAAG
 TCTGGAGAAA TTGACGATCT TGAGCAAATA AAATATGCTG AGGCTAGTAG CAAGCCAGAT
 GCTGAAATGA TTGGTTACTG CCCAGGCATT AGAAATAAAA ATTATTACTT TTAAATTAGA
 TGAAGTTGGA TTCAACACAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
504733

  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
HWPA
C
T
ss1343909757EAS 1008AF 0.755000000.24500000
EUR 1006AF 0.381700010.61830002
AFR 1322AF 0.065100000.93489999
AMR 694AF 0.384700030.61530000
SAS 978AF 0.633900050.36610001
ss167786928CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1690795229ExAc_Aggregated_Populations121409AF 0.411378060.58862191
ss1690795230ExAc_Aggregated_Populations 71465AF 0.00001399 0.99998599
ss170400899PGP 2IG 1.00000000 0.500000000.50000000
ss203546864BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss225605303pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss235822344pilot_1_CEU_low_coverage_panel 120AF 0.341666670.65833336
ss242401459pilot_1_CHB+JPT_low_coverage_panel 120AF 0.741666670.25833333
ss342349976ESP_Cohort_Populations 4548GF0.078276160.335532100.586191710.00100000 0.246042220.75395781
ss38948109HapMap-CEUEuropean 120IG0.116666670.466666670.416666661.00000000 0.349999990.64999998
HapMap-HCBAsian 90IG0.533333360.400000010.066666671.00000000 0.733333350.26666668
HapMap-JPTAsian 88IG0.613636370.363636370.022727270.43857800 0.795454560.20454545
HapMap-YRISub-Saharan African 120IG 0.116666670.883333331.00000000 0.058333330.94166666
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss491660644CSAgilent 1323GF0.136000010.488999990.375000000.34278200 0.380499990.61949998
ss69100749HapMap-CEUEuropean 120IG0.116666670.466666670.416666661.00000000 0.349999990.64999998
HapMap-HCBAsian 90IG0.533333360.400000010.066666671.00000000 0.733333350.26666668
HapMap-JPTAsian 90IG0.622222240.355555560.022222220.47950000 0.800000010.20000000
HapMap-YRISub-Saharan African 120IG 0.116666670.883333331.00000000 0.058333330.94166666
ss97286307J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.484+/-0.0870000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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