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Reference SNP (refSNP) Cluster Report: rs1800849                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1861/932 (1000 Genomes)
A=0.2002/25143 (TOPMED)
HGVS Names
  • CM000673.2:g.74009120G>A
  • CM000673.2:g.74009120G>T
  • NC_000011.10:g.74009120G>A
  • NC_000011.10:g.74009120G>T
  • NC_000011.9:g.73720165G>A
  • NG_011515.1:g.5118C>A
  • NG_011515.1:g.5118C>T
  • NM_003356.3:c.-238C>A
  • NM_003356.3:c.-238C>T
  • NM_022803.2:c.-238C>A
  • NM_022803.2:c.-238C>T
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 ss281065291 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1800849 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
ss2420994HGBASE|SNP000063041fwd/BC/Ttctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagcc11/07/0010/10/0389Genomicunknown
ss2990733YUSUKE|IMS-JST003255byFreqfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag05/24/0110/25/0696Genomicunknown
ss12568601CUORCGL|SNP34byFreqfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag07/08/0310/25/06117Genomicunknown
ss12675681SNP500CANCER|UCP3-02byFreqfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag09/05/0304/07/04118Genomicunknown
ss19913660CSHL-HAPMAP|CSHL-HuFF-200402.chr11.NT_033927.6_3919194rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt02/21/0410/26/06120Genomicunknown
ss28502666IMCJ-GDT|IMCJ-UCP3_1-CTfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag08/20/0408/20/04126Genomicunknown
ss38752864ABI|hCV8751325byFreqrev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt07/16/0511/02/06126Genomicunknown
ss51854779STEJUSTINE-REGGEN|954_-35fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag02/16/0602/16/06126Genomicunknown
ss65748799ILLUMINA|Human1-rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag10/10/0610/10/06127Genomicunknown
ss65837365KRIBB_YJKIM|KHS13157byFreqfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag10/17/0612/16/06127Genomicunknown
ss66266768AFFY|SNP_A-4296970byFreqrev/TA/Gctggtcttatacacacggctgacctgaaacct10/27/0608/14/07127Genomicunknown
ss67197023ILLUMINA|HumanHap550v1.1_rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag11/14/0611/14/06127Genomicunknown
ss67586000ILLUMINA|HumanHap650Yv1.0_rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag11/14/0611/14/06127Genomicunknown
ss68188865ILLUMINA|HumanHap250Sv1.0_rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag12/06/0612/07/06127Genomicunknown
ss70675235ILLUMINA|HumanHap550v3.0__rs1800849rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt04/20/0703/30/08130Genomicunknown
ss71238248ILLUMINA|HumanHap650Yv3.0_rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag04/23/0704/23/07127Genomicunknown
ss75632283ILLUMINA|ILMN_Human_1M_rs1800849fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag08/28/0708/29/07129Genomicunknown
ss76411667AFFY|AFFY_6_1M_SNP_A-4296970rev/TA/Gctggtcttatacacacggctgacctgaaacct08/28/0708/30/07130Genomicunknown
ss83877506KRIBB_YJKIM|KHS563060fwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag12/04/0712/06/07130Genomicunknown
ss88639437BCMHGSC_JDW|JWB-0442693rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt02/26/0802/27/08129Genomicunknown
ss95216260SHGC|2773byFreqfwd/BC/Tacttctctaggataaggtttcaggtcagccgtgtgtataagaccagtgccaagccagaag03/21/0809/05/14130Genomicunknown
ss106752019BGI|BGI_rs1800849rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt09/16/0810/20/09130Genomicunknown
ss119893536ILLUMINA-UK|NA18507_000092806_NCBI36.1_chr11_73397813rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt01/21/0902/05/09131Genomic99 %
ss132647324ENSEMBL|ENSSNP6365355rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt05/11/0905/14/09131Genomicunknown
ss153736523ILLUMINA|Human610_Quadv1_B_rs1800849-128_T_R_1502175662rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt06/18/0906/19/09131Genomicunknown
ss159329769ILLUMINA|Human660W-Quad_v1_A_rs1800849-128_T_R_1502175662rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt07/06/0907/07/09131Genomicunknown
ss168566122COMPLETE_GENOMICS|NA07022_36_chr11_73397813rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt09/30/0910/01/09132Genomicunknown
ss172925122ILLUMINA|Human1M-Duov3_B_rs1800849-128_T_R_1502175662rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt10/01/0910/02/09132Genomicunknown
ss173505296AFFY|GenomeWideSNP_5_SNP_A-4296970rev/TA/Gctggtcttatacacacggctgacctgaaacct10/01/0910/03/09132Genomicunknown
ss175184951COMPLETE_GENOMICS|NA20431_36_chr11_73397813rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt10/01/0910/05/09132Genomicunknown
ss2253132441000GENOMES|pilot_1_YRI_7122927_chr11_73397813rev/A/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt04/22/1004/22/10132Genomicunknown
ss2356113411000GENOMES|pilot_1_CEU_5215970_chr11_73397813rev/A/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt05/01/1005/01/10132Genomicunknown
ss2422333751000GENOMES|pilot_1_CHB+JPT_4118452_chr11_73397813rev/A/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt05/01/1005/01/10132Genomicunknown
ss244285083ILLUMINA|CVDSNP55v1_A_rs1800849rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt06/10/1006/10/10132Genomicunknown
ss255277245BL|SNP95230_11_73397813rev/TA/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt08/19/1008/20/10134Genomicunknown
ss281065291GMI|GMI_AK_SNP_5385680rev/A/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt12/16/1012/16/10137Genomicunknown
ss291072612PJP|SNP_578970_chr11_73397813rev/A/Gcttctggcttggcactggtcttatacacacggctgacctgaaaccttatcctagagaagt01/21/1101/21/11134Genomicunknown
ss532826274ILLUMINA|HumanOmni5-4v1_B_kgp10246177-0_T_F_1797808669rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga06/22/1208/29/15146Genomicunknown
ss658166097SSMP|11_73720165rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga12/14/1202/12/15138Genomicunknown
ss832841778ILLUMINA|Human660W-Quad_v1_C_rs1800849-131_T_R_1865050062rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga09/18/1307/02/15142Genomicunknown
ss833432608ILLUMINA|Human660W-Quad_v1_H_rs1800849-131_T_R_1865050062rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga09/18/1307/02/15142Genomicunknown
ss988674704EVA-GONL|EVA-GONL_rs1800849rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga04/23/1404/25/14142Genomicunknown
ss1077832723JMKIDD_LAB|HGDP_WGS_chr11_73720165rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga07/10/1407/12/14142Genomicunknown
ss13418816001000GENOMES|PHASE3_V1_54713577rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga08/16/1408/16/14142Genomicunknown
ss1575793162EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1800849rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga02/19/1502/19/15144Genomicunknown
ss1598335884EVA_DECODE|EVA_DECODE_11_73397813_545675_rs1800849rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga03/02/1503/04/15144Genomicunknown
ss1626893414EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_73720165_30208043rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga03/04/1503/04/15144Genomicunknown
ss1669887447EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_73720165_30208043rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga03/04/1503/04/15144Genomicunknown
ss1713264100EVA_SVP|EVA_SVP_958467rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga03/12/1503/12/15144Genomicunknown
ss1806876230HAMMER_LAB|Hsieh_5896114rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga07/15/1507/16/15146Genomicunknown
ss1932032411WEILL_CORNELL_DGM|SNV:chr11:73720165rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga10/16/1510/17/15147Genomicunknown
ss2026760375JJLAB|SNP7262930rev/TA/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga08/29/1608/30/16149Genomicunknown
ss2155071116USC_VALOUEV|NC_000011.9:g.73720165G>Arev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga11/17/1611/17/16150Genomicunknown
ss2183534491HUMAN_LONGEVITY|HLI-11-74009120-G-Arev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga11/18/1611/18/16150Genomicunknown
ss2347020703TOPMED|11_73720165_G/Arev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga11/19/1611/19/16150Genomicunknown
ss2627853898SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4610365rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga01/06/1701/06/17151Genomicunknown
ss2635027737ILLUMINA|Cancer_BeadChip_11459870_A_rs1800849-128_T_R_1768703525rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga02/02/1702/02/17151Genomicunknown
ss2699365956GRF|rs1800849rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga02/13/1702/13/17151Genomicunknown
ss2710739412ILLUMINA|Consortium-OncoArray_15047405_A_chr11_73720165_A_G-100_T_F_21987rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga03/22/1703/22/17151Genomicunknown
ss2901400679GNOMAD|rs1800849rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga05/22/1705/22/17151Genomicunknown
ss3008345341SWEGEN|NC_000011.9:g.73720165G>Arev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga05/30/1705/30/17151Genomicunknown
ss3027177421BIOINF_KMB_FNS_UNIBA|11.74009120G>Arev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga07/05/1707/05/17151Genomicunknown
ss3149364522TOPMED|TOPMed_freeze_5?chr11:74,009,120-01rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga09/30/1709/30/17151Genomicunknown
ss3149364523TOPMED|TOPMed_freeze_5?chr11:74,009,120-02rev/G/Tggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga09/30/1709/30/17151Genomicunknown
ss3349667182CSHL|rs1800849rev/A/Gggcttggcactggtcttatacacacggctgacctgaaaccttatcctaga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1800849|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 AGCACTTTGC CAGACTGAGG CAGGAGGATC ACTTAAGCCC AGGAGTTCAA GACCAGCCTG
 GGGAACACAG CAAGACCTCG TCTCTACTAA AAAATTTTAA ATTACAAAAA AAAAAAGTAA
 AAAAAATAGA ATCCTAATAG TACCTATCTC ATAGGATTGT GGAAAATAGT AGTAATGTAT
 GTAAAATATT TAGCACATAG TAGGCACAAA GAAATGACAT TATTATTAAG AGACCTGGGA
 GAGCTGTGCC CAGCCTATCG TGGGAGGCCT TGACCTTTGG ACTCAAAAGT GGCAGCAGGT
 CCACCCCCCC ATACACCCTT GTCACCAAGG AAGCGTCCAC AGCTTAAAGG AGCTATATTA
 AAGCACCCCA AGTCAAGAGG ACTGAACCAG ATCTGGAACT CACTCACCTC CCCTCTCACC
 TCACTGCCCT CACCAGCCAG CCTCTTGTCA AGTGATCAGG CTGTCAACCA ACTTCTCTAG
 GATAAGGTTT CAGGTCAGCC
 H
 GTGTGTATAA GACCAGTGCC AAGCCAGAAG CAGCAGAGAC AACAGTGAAT GACAAGGAGG
 GGCCATCCAA TCCCTGCTGC CACCTCCTGG GATGGAGCCC TAGGGAGCCC CTGTGCTGCC
 CCTGCCGTGG CAGGACTCAC AGGTAAGACC CCTTTCTCCT CCCTCATCCC TTCCCCTCTC
 CCTCTCCCTT CTCCTTGTTC TCCCTTTCAT TGGAGGCTTT CAGAGAGCAG CCCCGAGCAG
 TCAGGGCTCA CTAGCTGCAG CTTGTCAGAC CTGATAGAGA TTCAGTCCAG CCGCCACCTT
 ATGAAAAGGG AGCTGTGGCC TTGATGAGGG TACTGTGGCA GGGCTGGGGC TTGAACCCAA
 CACCCGTGTC ACTCACTCAA GACTCACACC CCCTTTGCCT TGCTGGCTGC CTCTGGTGGG
 ATTTTGCAAA TCCCCATAGA CAGGAAGTGG CTTTCTTCTT TGCCTGCCCC AGAATCTCTG
 CGATTCCTCC AGAGCATAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033927.3
dbSNP Blast Analysis
OMIM
602044

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1800849 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss119893536YRI 2IG 1.00000000 0.500000000.50000000
ss12568601American Caucasians 1767AF 0.735000010.26499999
ss12675681P1 204AF0.676000000.274999980.049000000.371093000.814000010.18600000
CAUC1 62AF0.612999980.323000010.064000000.751830000.773999990.22600000
AFR1 48AF0.792000000.20800000 0.583882000.895999970.10399999
HISP1 46AF0.782999990.174000010.043000010.273322000.870000000.13000000
PAC1 48AF0.542000000.375000000.083000001.000000000.728999970.27100000
ss132647324ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1341881600EAS 1008AF 0.721199990.27879998
EUR 1006AF 0.769400000.23060000
AFR 1322AF 0.903900030.09610000
AMR 694AF 0.894800010.10519999
SAS 978AF 0.776100040.22389999
ss168566122CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss175184951PGP 2IG 1.00000000 1.00000000
ss225313244pilot_1_YRI_low_coverage_panel 118AF 0.889830530.11016949
ss235611341pilot_1_CEU_low_coverage_panel 120AF 0.774999980.22499999
ss242233375pilot_1_CHB+JPT_low_coverage_panel 120AF 0.725000020.27500001
ss2990733JBIC-allele 1478AF 0.675199990.32480001
ss38752864HapMap-CEUEuropean 226IG0.566371680.389380540.044247790.479500000.761061970.23893805
HapMap-HCBAsian 86IG0.465116290.441860470.093023261.000000000.686046540.31395349
HapMap-JPTAsian 172IG0.500000000.430232550.069767450.654721000.715116260.28488371
HapMap-YRISub-Saharan African 226IG0.823008840.17699115 0.751830000.911504450.08849557
AoD_Chinese 90AF 0.720000030.28000000
AoD_Japanese 90AF 0.660000030.34000000
7 65AF 0.892300010.10770001
HAPMAP-ASW 98IG0.816326560.163265300.020408160.479500000.897959170.10204082
HAPMAP-CHBAsian 82IG0.463414640.390243890.146341460.402784000.658536610.34146342
HAPMAP-CHD 170IG0.435294120.470588240.094117650.583882000.670588250.32941177
HAPMAP-GIH 176IG0.727272750.250000000.022727271.000000000.852272750.14772727
HAPMAP-LWK 180IG0.922222200.07777778 1.000000000.961111130.03888889
HAPMAP-MEX 100IG0.800000010.180000010.020000000.583882000.889999990.11000000
HAPMAP-MKK 284IG0.957746510.04225352 1.000000000.978873250.02112676
HAPMAP-TSI 176IG0.715909060.261363630.022727271.000000000.846590940.15340909
ss65837365KHP1 172AF0.534883740.430232550.034883720.200325000.750000000.25000000
ss66266768HapMap-CEUEuropean 118IG0.661016940.305084740.033898311.000000000.813559290.18644068
HapMap-HCBAsian 90IG0.488888890.422222230.088888891.000000000.699999990.30000001
HapMap-JPTAsian 90IG0.466666670.488888890.044444450.250592000.711111130.28888890
HapMap-YRISub-Saharan African 120IG0.833333310.150000010.016666670.479500000.908333360.09166667
ss76411667ICMHP 10IG0.800000010.20000000 0.899999980.10000000
ss95216260S24 48AF 0.579999980.41999999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.303+/-0.2440000ALFRED: 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
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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