NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs1805404                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.2085/25303 (ExAC)
A=0.2183/1093 (1000 Genomes)
A=0.1477/1921 (GO-ESP)
A=0.1845/23169 (TOPMED)
HGVS Names
  • CM000663.2:g.226402257G>A
  • CM000663.2:g.226402257G>C
  • NC_000001.10:g.226589958G>A
  • NC_000001.11:g.226402257G>A
  • NC_000001.11:g.226402257G>C
  • NM_001618.3:c.243C>G
  • NM_001618.3:c.243C>T
  • NP_001609.2:p.Asp81=
  • NP_001609.2:p.Asp81Glu
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 ss276244222 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1805404 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
ss2667848UWGC|adprt-e2+t44byFreqfwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct12/11/0004/07/0492Genomicunknown
ss3188747HGBASE|SNP000064389fwd/BC/Tggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcgg07/23/0110/10/0398cDNAunknown
ss3807460SC_JCM|AC073830.2_84077fwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct09/25/0110/10/03100Genomicunknown
ss4480397EGP_SNPS|ADPRT-006019byFreqfwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct07/01/0204/07/04106Genomicunknown
ss4924709YUSUKE|IMS-JST084485byFreqfwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct07/24/0210/10/03108Genomicunknown
ss5586196SNP500CANCER|PARP1-02byFreqfwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct09/26/0204/07/04113Genomicunknown
ss6404826WI_SSAHASNP|NT_004525.13_2695952rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc02/12/0310/10/03111Genomicunknown
ss13004660SC_SNP|NT_004559.10_103276rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc10/22/0310/31/03119Genomicunknown
ss16230518CGAP-GAI|1469205fwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct11/18/0311/22/03120cDNAunknown
ss16441563CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004559.11_2766152rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc02/17/0403/04/04120Genomicunknown
ss22886566IMCJ-GDT|IMCJ-ADPRT_37-CTfwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct03/22/0403/22/04121Genomicunknown
ss28508063MGC_GENOME_DIFF|BC037545x37548557-G2766152Arev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc08/25/0408/25/04126cDNAunknown
ss41185532ABI|hCV11639199byFreqrev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc07/16/0511/03/06126Genomicunknown
ss66860125EGP_SNPS|ADPRT_006019fwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct11/09/0603/02/07127Genomicunknown
ss76610950AFFY|AFFY_6_1M_SNP_A-8472289fwd/BC/Tagcttcggtgggatgacagcagaaagtcaaga08/28/0708/30/07130Genomicunknown
ss76877459CGM_KYOTO|719795rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc09/12/0709/12/07129cDNAunknown
ss86237648CORNELL|hCV11639199byFreqrev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc01/21/0809/05/14129Genomicunknown
ss86342312CANCER-GENOME|367rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc01/25/0801/25/08129Genomicunknown
ss95212955CNG|17745931rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc03/13/0803/13/08129Genomicunknown
ss104853778KRIBB_YJKIM|KHS1246096fwd/BC/Tggatgggttctctgagcttcggtgggatgacagcagaaagtcaagaagacagcggaagct07/10/0807/10/08130Genomicunknown
ss106636552BGI|BGI_rs1805404rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc09/16/0806/17/09130Genomicunknown
ss1089995451000GENOMES|CEU.trio.12.15.2008_259920_chr1_224656581rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc12/16/0812/16/08130Genomicunknown
ss156365127GMI|GMI_SNP_37432146rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc06/24/0906/25/09131Genomicunknown
ss159700722SEATTLESEQ|PARP1-224656581rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc07/10/0907/10/09131Genomicunknown
ss160463332ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1805404-128_T_R_1562128403rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc08/04/0910/02/09131Genomicunknown
ss167543547COMPLETE_GENOMICS|NA20431_36_chr1_224656581rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc09/30/0909/30/09132Genomicunknown
ss199689423BUSHMAN|BUSHMAN-chr1-224656580rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc02/16/1003/06/10132Genomicunknown
ss2189161481000GENOMES|pilot_1_YRI_725831_chr1_224656581rev/A/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc04/22/1004/22/10132Genomicunknown
ss2309289321000GENOMES|pilot_1_CEU_533561_chr1_224656581rev/A/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc05/01/1005/01/10132Genomicunknown
ss2385367051000GENOMES|pilot_1_CHB+JPT_421782_chr1_224656581rev/A/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc05/01/1005/01/10132Genomicunknown
ss253867772BL|SNP216418_1_224656581rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc08/18/1008/19/10134Genomicunknown
ss276244222GMI|GMI_AK_SNP_564389rev/A/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc12/16/1012/16/10137Genomicunknown
ss342033498NHLBI-ESP|ESP2500-chr1-226589958byFreqrev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc03/25/1109/05/14134Genomicunknown
ss481069118ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1805404-128_T_R_1617235999rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc01/30/1208/28/15146Genomicunknown
ss4897948221000GENOMES|20110521_exome_331160_chr1_226589958rev/TA/Gagcttccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacccatcc02/10/1202/21/12137Genomicunknown
ss491616399CLINSEQ_SNP|SNV-chr1-224656581byFreqrev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/06/1209/05/14137Genomicunknown
ss536542221ILLUMINA|HumanOmni5-4v1_B_kgp9906609-0_T_F_1905067196rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc06/22/1208/28/15146Genomicunknown
ss555178984TISHKOFF|snp_chr1_226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc11/22/1211/23/12138Genomicunknown
ss648750655SSMP|1_226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc12/14/1202/10/15138Genomicunknown
ss974439995JMKIDD_LAB|KhoeSan_Exomes_chr1_226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/06/1403/06/14142Genomicunknown
ss976213857EVA-GONL|EVA-GONL_rs1805404rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc04/23/1404/23/14142Genomicunknown
ss1067432561JMKIDD_LAB|HGDP_exomes_chr1_226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc07/09/1407/09/14142Genomicunknown
ss1068654086JMKIDD_LAB|HGDP_WGS_chr1_226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc07/10/1407/10/14142Genomicunknown
ss12949124651000GENOMES|PHASE3_V1_5805196rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc08/16/1408/16/14142Genomicunknown
ss1574721955EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1805404rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc02/19/1502/19/15144Genomicunknown
ss1584015466EVA_FINRISK|EVA_FINRISK_rs1805404rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc02/27/1502/27/15144Genomicunknown
ss1585611777EVA_DECODE|EVA_DECODE_1_224656581_1482536_rs1805404rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/02/1503/02/15144Genomicunknown
ss1602279628EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_226589958_3192558rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/04/1503/04/15144Genomicunknown
ss1645273661EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_226589958_3192558rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/04/1503/04/15144Genomicunknown
ss1686082621EVA_EXAC|EVA_EXAC_931497rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/04/1503/04/15144Genomicunknown
ss1710945862EVA_MGP|EVA_XIMO_62614rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/09/1503/09/15144Genomicunknown
ss1712410449EVA_SVP|EVA_SVP_105001rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc03/12/1503/12/15144Genomicunknown
ss1795818749HAMMER_LAB|Hsieh_609147rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc07/15/1507/15/15146Genomicunknown
ss1919435899WEILL_CORNELL_DGM|SNV:chr1:226589958rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc10/16/1510/16/15147Genomicunknown
ss1966989403GENOMED|rs1805404rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc02/16/1602/16/16147Genomicunknown
ss2020242416JJLAB|SNP744971rev/TA/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc08/29/1608/30/16149Genomicunknown
ss2148276738USC_VALOUEV|NC_000001.10:g.226589958G>Arev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc11/17/1611/17/16150Genomicunknown
ss2170629888HUMAN_LONGEVITY|HLI-1-226402257-G-A,Crev/A/C/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc11/18/1611/18/16150Genomicunknown
ss2624632505SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV474479rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc01/06/1701/06/17151Genomicunknown
ss2698274942GRF|rs1805404rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc02/13/1702/13/17151Genomicunknown
ss2732319306GNOMAD|exomes_rs1805404rev/A/C/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc05/17/1705/17/17151Genomicunknown
ss2746575367GNOMAD|coding_rs1805404rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc05/17/1705/17/17151Genomicunknown
ss2766966669GNOMAD|rs1805404rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc05/17/1705/17/17151Genomicunknown
ss2988559716SWEGEN|NC_000001.10:g.226589958G>Arev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc05/30/1705/30/17151Genomicunknown
ss3023881621BIOINF_KMB_FNS_UNIBA|1.226402257G>Arev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc07/05/1707/05/17151Genomicunknown
ss3343943065CSHL|rs1805404rev/A/Gccgctgtcttcttgactttctgctgtcatcccaccgaagctcagagaacc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1805404|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 CAAGTGTCTT CTGTGCATTT CACTAGGCCA TGAGGCAGCT CACCACTAAA TGTAGCAGTG
 TGTGGTCAAA AGGGACGTGG GGCAGAGCTC AGTGGTAAAA GGCCACCTTT CTCGTGGCTG
 TGTTTGGTGT CCTAAGAGAA TGAGCTCAAG AACAGTGGGC TACAGTCTTC TGACCCTTGG
 GGAAGATCGT GAGAAGGATG CTGCAGCTCT TCATGTGAGA GCGGAGGCTG TCCTCCTTTC
 ACAGATAGGA GAACAAAAGT TTCATGTGCT ATCCCACTGC TGGGGCTGGG ACTGGGGTCG
 AGGTCAAGGT CAAGGTCTAG TGGGTCTAAG TCAAAAGTTA ACTGCTTACT TACTTCCCTC
 TGTTTCTCTT CCTTCTAGTC GCCCATGTTT GATGGAAAAG TCCCACACTG GTACCACTTC
 TCCTGCTTCT GGAAGGTGGG CCACTCCATC CGGCACCCTG ACGTTGAGGT GGATGGGTTC
 TCTGAGCTTC GGTGGGATGA
 B
 CAGCAGAAAG TCAAGAAGAC AGCGGAAGCT GGAGGAGTGA CAGGTGTGTA CATACTGGGG
 CAGCATGGGC ATTCAGCCCC CACCCTGAAG CTCCCAGGAG GGCCTCGTCT CAGAGAGCAA
 AGCAAACCTC CCCCAGCTTG CCCTCTCCCA CATGTGCAGA TCAAGCGTAT GGTGCCCATG
 TTATTTCAGC AACACCTCCT GGACTCAGCA TCATCTGTTG CATGATATTT GGTATTTTGT
 TTTTCCAGGT GCTTGGAATG TAGCCTTTAA AGTTGTTTTG TTTTTAATAT ACTTTATTTT
 TGTTCATGGC AAAAGTAAGC AAAGAACAAA GAGTTTCCAG TACCCCCTCC CCCTCCCACC
 ACACAGGCTC TTCCTTGTCA ACACCTCCCA CCAGAGTAGT ACATTTGTTA TAATTGAGGA
 ACCTACACTG ACACATCATT ATTGCCCAGA GTCCAGAAAC TCCTGATGCT CTACATTCTA
 TGGGTTTGGA CAAATGTATG

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
G67244 NT_004917.1 AC011651 AC041043 AL359704 AL359742 BC037545 BE513299
dbSNP Blast Analysis
UniGene Cluster ID
177766

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1805404 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
ss1294912465EAS 1008AF 0.563499990.43650001
EUR 1006AF 0.845900000.15410000
AFR 1322AF 0.884999990.11500000
AMR 694AF 0.642700020.35730001
SAS 978AF 0.899800000.10020000
ss167543547PGP 2IG 1.00000000 0.500000000.50000000
ss1686082621ExAc_Aggregated_Populations121412AF 0.791503310.20849669
ss199689423BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss218916148pilot_1_YRI_low_coverage_panel 118AF 0.872881350.12711865
ss230928932pilot_1_CEU_low_coverage_panel 120AF 0.866666670.13333334
ss238536705pilot_1_CHB+JPT_low_coverage_panel 120AF 0.550000010.44999999
ss2667848NIHPDRGlobal 94IG0.574468080.361702110.063829791.000000000.755319180.24468085
ss342033498ESP_Cohort_Populations 4552GF0.736379620.237697720.025922670.099721000.855228480.14477153
ss41185532HapMap-CEUEuropean 224IG0.732142870.232142850.035714290.317310000.848214270.15178572
HapMap-HCBAsian 86IG0.186046510.627906980.186046510.099721000.500000000.50000000
HapMap-JPTAsian 172IG0.348837200.395348850.255813960.099721000.546511650.45348838
HapMap-YRISub-Saharan African 226IG0.787610590.185840710.026548670.250592000.880530950.11946902
HAPMAP-ASW 98IG0.775510190.22448979 0.751830000.887755100.11224490
HAPMAP-CHBAsian 82IG0.268292700.560975610.170731710.402784000.548780500.45121950
HAPMAP-CHD 168IG0.250000000.571428600.178571430.200325000.535714270.46428570
HAPMAP-GIH 174IG0.804597680.149425280.045977010.010028000.879310370.12068965
HAPMAP-LWK 176IG0.750000000.25000000 0.527089000.875000000.12500000
HAPMAP-MEX 98IG0.428571430.367346940.204081640.150222000.612244900.38775510
HAPMAP-MKK 286IG0.762237790.216783210.020979020.654721000.870629370.12937063
HAPMAP-TSI 176IG0.806818190.181818190.011363641.000000000.897727250.10227273
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss4480397PDR90Global 166IG0.650602400.289156620.060240970.317310000.795180740.20481928
ss491616399CSAgilent 1323GF0.736000000.236999990.027000000.250592000.854500000.14550000
ss4924709JBIC-allele 1484AF 0.587599990.41239998
ss5586196P1 204AF0.607999980.333000000.059000000.654721000.775000040.22500001
CAUC1 62AF0.773999990.22600000 0.479500000.887000020.11299999
AFR1 48AF0.500000000.458000030.042000000.438578000.728999970.27100000
HISP1 46AF0.565000000.43500000 0.200325000.782999990.21700001
PAC1 48AF0.542000000.250000000.208000000.050043000.667000000.33300000
ss86237648AGI_ASP_populationmultiple 72IG0.666666690.277777790.055555560.527089000.805555580.19444445

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.330+/-0.2370000

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNYES