NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs2075650                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1294/15709 (ExAC)
G=0.1194/598 (1000 Genomes)
G=0.1325/1723 (GO-ESP)
G=0.1273/15979 (TOPMED)
HGVS Names
  • CM000681.2:g.44892362A>G
  • NC_000019.10:g.44892362A>G
  • NC_000019.9:g.45395619A>G
  • NG_042854.1:g.6143A>G
  • NM_001128916.1:c.275-31A>G
  • NM_001128917.1:c.275-31A>G
  • NM_006114.2:c.275-31A>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 ss283224104 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2075650 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
ss2990798YUSUKE|IMS-JST003326byFreqfwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag05/24/0110/10/0396Genomicunknown
ss3184467HGBASE|SNP000570051fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc07/09/0110/10/0398Genomicunknown
ss44165050ABI|hCV3084828byFreqfwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag07/18/0511/03/06126Genomicunknown
ss66643222ILLUMINA|HumanHap300v1.1_rs2075650fwd/BA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag11/09/0611/09/06127Genomicunknown
ss67222875ILLUMINA|HumanHap550v1.1_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag11/14/0611/14/06127Genomicunknown
ss67617352ILLUMINA|HumanHap650Yv1.0_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag11/14/0611/14/06127Genomicunknown
ss70701165ILLUMINA|HumanHap550v3.0__rs2075650rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct04/20/0703/30/08130Genomicunknown
ss71267245ILLUMINA|HumanHap650Yv3.0_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag04/23/0704/23/07127Genomicunknown
ss75542716ILLUMINA|ILMN_Human_1M_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag08/28/0708/29/07129Genomicunknown
ss79112945ILLUMINA|HumanHap300v2.0_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag04/18/0711/18/07130Genomicunknown
ss83967019KRIBB_YJKIM|KHS586943fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag12/04/0712/06/07130Genomicunknown
ss96308957HUMANGENOME_JCVI|1103691153271fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag03/26/0803/26/08130Genomicunknown
ss117716987ILLUMINA-UK|NA18507_000050951_NCBI36.1_chr19_50087459fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag01/19/0901/20/09130Genomic99 %
ss121911060ILLUMINA|HumanCNV370v1_C_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag04/14/0904/14/09131Genomicunknown
ss139675066ENSEMBL|ENSSNP7790639fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag12/08/0810/16/09131Genomicunknown
ss153847184ILLUMINA|Human610_Quadv1_B_rs2075650-128_B_R_1501706625rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct06/18/0906/20/09131Genomicunknown
ss155938258GMI|GMI_SNP_135479759fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag06/24/0906/24/09131Genomicunknown
ss159356786ILLUMINA|Human660W-Quad_v1_A_rs2075650-128_B_R_1501706625rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct07/06/0907/07/09131Genomicunknown
ss160499251ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2075650-128_B_R_1501706625rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct08/04/0910/02/09131Genomicunknown
ss168243705COMPLETE_GENOMICS|NA07022_36_chr19_50087459fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag09/30/0909/30/09132Genomicunknown
ss171004078ILLUMINA|HumanCNV370-Quadv3_C_rs2075650-128_B_R_1501706625rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct10/01/0910/03/09132Genomicunknown
ss173102404ILLUMINA|Human1M-Duov3_B_rs2075650-128_B_R_1501706625rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct10/01/0910/03/09132Genomicunknown
ss181835721PAGE_STUDY|PAGE_EAGLE_rs2075650fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag12/14/0912/23/10132Genomicunknown
ss181931359PAGE_STUDY|PAGE_MEC_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc12/15/0904/16/10132Genomicunknown
ss182258769PAGE_STUDY|PAGE_MEC-HI_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc12/16/0912/23/10132Genomicunknown
ss2281564891000GENOMES|pilot_1_YRI_9966172_chr19_50087459fwd/A/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag04/22/1004/22/10132Genomicunknown
ss2376895441000GENOMES|pilot_1_CEU_7294173_chr19_50087459fwd/A/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag05/01/1005/01/10132Genomicunknown
ss2438923961000GENOMES|pilot_1_CHB+JPT_5777473_chr19_50087459fwd/A/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag05/01/1005/01/10132Genomicunknown
ss244287023ILLUMINA|CVDSNP55v1_A_rs2075650rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct06/10/1006/10/10132Genomicunknown
ss283224104GMI|GMI_AK_SNP_7544525fwd/A/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag12/16/1012/16/10137Genomicunknown
ss410919148ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs2075650rev/BC/Tctggagaagagaaacgctgtcacactccacccaaccccacaccaactctcatctcttcct06/07/1106/07/11135Genomicunknown
ss480414717ILLUMINA|HumanOmni2.5-4v1_B_rs2075650-128_B_R_1615265299fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc01/30/1210/28/16137Genomicunknown
ss480428153ILLUMINA|HumanOmniExpress-12v1_C_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc01/30/1210/27/16137Genomicunknown
ss481211656ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc01/30/1208/28/15146Genomicunknown
ss485004872ILLUMINA|HumanOmni2.5-4v1_D_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc01/30/1210/28/16137Genomicunknown
ss4911617301000GENOMES|20110521_exome_669528_chr19_45395619fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag02/10/1202/22/12137Genomicunknown
ss491549542EXOME_CHIP|.GWAS._265768_chr_19_45395619fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag03/05/1203/06/12137Genomicunknown
ss491769721CLINSEQ_SNP|SNV-chr19-50087459byFreqfwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/06/1209/05/14137Genomicunknown
ss537035509ILLUMINA|HumanOmni5-4v1_B_rs2075650-131_B_R_1908327365fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc06/22/1208/29/15146Genomicunknown
ss566007486TISHKOFF|snp_chr19_45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/22/1211/23/12138Genomicunknown
ss661874517SSMP|19_45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc12/14/1202/14/15138Genomicunknown
ss713528704NHLBI-ESP|ESP6500SI-chr19-45395619fwd/TA/Gaggaagagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttctccag02/20/1302/20/13138Genomicunknown
ss778480072ILLUMINA|HumanOmni25Exome-8v1_A_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/30/1307/10/15146Genomicunknown
ss780682908ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/30/1307/10/15146Genomicunknown
ss782948755ILLUMINA|HumanOmni2.5-4v1_H_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/30/1307/29/15146Genomicunknown
ss783356281ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/31/1306/19/15146Genomicunknown
ss783911086ILLUMINA|HumanOmniExpressExome-8v1_A_rs2075650-131_B_R_1908327365fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/31/1306/19/15146Genomicunknown
ss825443463ILLUMINA|HumanCNV370v1_C_rs2075650-126_B_R_IFB1152030535:0fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc06/24/1311/21/14144Genomicunknown
ss832204640ILLUMINA|HumanOmniExpress-12v1_H_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc09/17/1306/18/15146Genomicunknown
ss833935939ILLUMINA|HumanOmni2.5-8v1_A_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc09/18/1307/29/15146Genomicunknown
ss974506669JMKIDD_LAB|KhoeSan_Exomes_chr19_45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/06/1403/06/14142Genomicunknown
ss994339046EVA-GONL|EVA-GONL_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc04/23/1405/01/14142Genomicunknown
ss1067590761JMKIDD_LAB|HGDP_exomes_chr19_45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc07/09/1407/09/14142Genomicunknown
ss1081930372JMKIDD_LAB|HGDP_WGS_chr19_45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc07/10/1407/12/14142Genomicunknown
ss13633256271000GENOMES|PHASE3_V1_77055227fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc08/16/1408/16/14142Genomicunknown
ss1428413900DDI|DDI_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/04/1411/04/14144Genomicunknown
ss1578653584EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/19/1502/20/15144Genomicunknown
ss1584118329EVA_FINRISK|EVA_FINRISK_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/27/1502/27/15144Genomicunknown
ss1638043372EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_45395619_42493538fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/04/1503/04/15144Genomicunknown
ss1681037405EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_45395619_42493538fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/04/1503/04/15144Genomicunknown
ss1693664951EVA_EXAC|EVA_EXAC_9102936fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/04/1503/04/15144Genomicunknown
ss1698393984EVA_DECODE|EVA_DECODE_19_50087459_334789_rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/02/1503/05/15144Genomicunknown
ss1711517442EVA_MGP|EVA_XIMO_633202fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/09/1503/09/15144Genomicunknown
ss1713664889EVA_SVP|EVA_SVP_1358968fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/12/1503/12/15144Genomicunknown
ss1752288206ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/27/1506/09/15146Genomicunknown
ss1752288207ILLUMINA|OmniExpressExome-8v1-1_B_rs2075650-131_B_R_1908327365fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/27/1506/09/15146Genomicunknown
ss1917938916ILLUMINA|HumanExome-12v1-1_B_exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc10/16/1510/16/15147Genomicunknown
ss1937835661WEILL_CORNELL_DGM|SNV:chr19:45395619fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc10/16/1510/19/15147Genomicunknown
ss1946537650ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc10/29/1510/29/15147Genomicunknown
ss1959869615ILLUMINA|exm-rs2075650-131_B_R_1990480723fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/13/1511/13/15147Genomicunknown
ss1968650709GENOMED|rs2075650fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/16/1602/16/16147Genomicunknown
ss2029695247JJLAB|SNP10197802fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc08/29/1608/31/16149Genomicunknown
ss2094804134ILLUMINA|Immuno_BeadChip_11419691_B_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc09/27/1609/27/16150Genomicunknown
ss2095085192ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs2075650-131_B_R_1852928657fwd/TA/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc09/27/1609/27/16150Genomicunknown
ss2158238007USC_VALOUEV|NC_000019.9:g.45395619A>Gfwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/17/1611/17/16150Genomicunknown
ss2226011115HUMAN_LONGEVITY|HLI-19-44892362-A-Gfwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/18/1611/18/16150Genomicunknown
ss2391819493TOPMED|19_45395619_A/Gfwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc11/19/1611/19/16150Genomicunknown
ss2633544178ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2075650-131_B_R_19083273fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/02/1702/02/17151Genomicunknown
ss2633544179ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs2075650-131_B_R_2130fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/02/1702/02/17151Genomicunknown
ss2702851293GRF|rs2075650fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc02/13/1702/13/17151Genomicunknown
ss2710884160ILLUMINA|Consortium-OncoArray_15047405_A_chr19_45395619_A_G-100_B_R_21989fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc03/22/1703/22/17151Genomicunknown
ss2744089835GNOMAD|exomes_rs2075650fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/17/1705/17/17151Genomicunknown
ss2750218635GNOMAD|coding_rs2075650fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/17/1705/17/17151Genomicunknown
ss2963328612GNOMAD|rs2075650fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/23/1705/23/17151Genomicunknown
ss2985144674AFFY|Axiom_PsorMich_Affx-16020064fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/24/1705/24/17151Genomicunknown
ss2985775651AFFY|Axiom_Smokesc1_Affx-16020064fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/24/1705/24/17151Genomicunknown
ss3017540496SWEGEN|NC_000019.9:g.45395619A>Gfwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc05/30/1705/30/17151Genomicunknown
ss3021911461ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs2075650-138_B_R_2260159211fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc06/28/1706/28/17151Genomicunknown
ss3028677750BIOINF_KMB_FNS_UNIBA|19.44892362A>Gfwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc07/05/1707/05/17151Genomicunknown
ss3294327891TOPMED|TOPMed_freeze_5?chr19:44,892,362fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc10/02/1710/02/17151Genomicunknown
ss3352320632CSHL|rs2075650fwd/A/Ggagatgagagttggtgtggggttgggtggagtgtgacagcgtttctcttc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2075650|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TCAAATGCTG GAAACGGGAT GGAATGTCAT AGCAGTAGAG AAAAGCCTTT AGGGACCTGA
 GGAGCCCCGG GATCAGCCAA GCCAGACTTC TCTTGTGATC GGGAAGGCAA CTGAGGCCCA
 AGGTCACGGT GTCAGCAAGG TGTCAGCGAG GTTCCTTGGG TATGGGACCC AAAGCCTCCG
 GATCCCAGCC TGGAGCAATT AGAGTAGTAG TAGTGGTGGA GATTTATGGA GTTCTGTTCT
 GGTGTTCATT ATACGTTAAC TCATTAGATC CTTGGGACAA TTCTGTGTGG TGAGGGTCCC
 ATCTTTCAGA TGATGAGTTT GACCTAAAGT TGCTCAGCTT GGTGGCAGTG AGATTTGAGC
 AAGCAAAGGC CCTGGCCCTG TCTAACTAGG CTGTACTGCC TCTTTACAGG TGGAATCCTT
 TGTGAGATGT TCTGCTGTGG GTCTCTGGAG AGAGCTGGGG GTGGTAGGGA AGGAAGAGAT
 GAGAGTTGGT GTGGGGTTGG
 R
 GTGGAGTGTG ACAGCGTTTC TCTTCTCCAG AGCTGTTTCC CATTCAGATG GAGGGTGTCA
 AGCTCACAGT CAACAAAGGG TTGAGTAACC ATTTTCAGGT GAGCCTTCCT GGTGTCCTTA
 CCCACCAGAG ATCGTCCCCG CCGTCCCCCT CCCTGCATCT GCACACTCGG CCCAATTACT
 CCTCCCTCAA GAGCTGGGCT CCCTGATACT TGAAAAGACT CGGAGATATA GTGCCAGACT
 GACTACTCAG TTTGGGGACC TAGAATCCAG AGGTACTGTC TCCCCATAGC AGCTAGGCTG
 GAGTGAAGGA ACAGGTCTGT GGGCCTACCG GCAGCACCTC CTTTCTCTGA GTCTCTTAGT
 CAGGCCGTGC CTCCCAGTCT TCATCCCCTG CCCAGCCCAG AGACCTTGTC CTTGCCCTCT
 TCAGTGGGCA AGCCTATCTG TCCAGTATCG TCACAGCTCT CGCTTTCCTT CCAGGTCAAC
 CACACAGTAG CCCTCAGCAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000019 ABBA01040890
dbSNP Blast Analysis
OMIM
104310

  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/G
G/G
HWPA
G
ss117716987YRI 2IG 1.00000000 0.500000000.50000000
ss1363325627EAS 1008AF 0.902800020.09720000
EUR 1006AF 0.868800040.13120000
AFR 1322AF 0.869099970.13090001
AMR 694AF 0.894800010.10519999
SAS 978AF 0.875299990.12469999
ss139675066ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss168243705CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1693664951ExAc_Aggregated_Populations121412AF 0.870581150.12941884
ss228156489pilot_1_YRI_low_coverage_panel 118AF 0.889830530.11016949
ss237689544pilot_1_CEU_low_coverage_panel 120AF 0.824999990.17500000
ss243892396pilot_1_CHB+JPT_low_coverage_panel 120AF 0.883333330.11666667
ss2990798JBIC-allele 894AF 0.852999990.14700000
ss44165050HapMap-CEUEuropean 226IG0.716814160.247787610.035398230.438578000.840707960.15929204
HapMap-HCBAsian 86IG0.790697690.20930232 0.751830000.895348850.10465116
HapMap-JPTAsian 172IG0.790697690.197674420.011627911.000000000.889534890.11046512
HapMap-YRISub-Saharan African 226IG0.752212410.203539820.044247790.099721000.853982330.14601770
HAPMAP-ASW 98IG0.714285730.244897960.040816330.479500000.836734710.16326530
HAPMAP-CHBAsian 82IG0.756097560.24390244 0.751830000.878048780.12195122
HAPMAP-CHD 170IG0.811764720.164705890.023529410.250592000.894117650.10588235
HAPMAP-GIH 176IG0.772727250.204545450.022727270.583882000.875000000.12500000
HAPMAP-LWK 180IG0.644444470.333333340.022222220.438578000.811111090.18888889
HAPMAP-MEX 100IG0.779999970.22000000 0.751830000.889999990.11000000
HAPMAP-MKK 286IG0.790209770.202797200.006993010.583882000.891608420.10839161
HAPMAP-TSI 176IG0.818181810.170454550.011363641.000000000.903409060.09659091
ss491769721CSAgilent 594GF0.730269730.245754260.023976020.751830000.853146850.14685315
ss96308957J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.225+/-0.2490000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement