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: rs2219078                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
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:A=0.2803/33921 (ExAC)
A=0.3498/1752 (1000 Genomes)
A=0.2272/2955 (GO-ESP)
A=0.2754/34584 (TOPMED)
HGVS Names
  • CM000664.2:g.108258742G>A
  • NC_000002.11:g.108875198G>A
  • NC_000002.12:g.108258742G>A
  • NM_001008743.2:c.535G>A
  • NM_001320878.1:c.535G>A
  • NP_001008743.1:p.Gly179Arg
  • NP_001307807.1:p.Gly179Arg
  • XP_016859642.1:p.Gly224Arg
  • XP_016859643.1:p.Gly224Arg
  • XP_016859644.1:p.Gly224Arg
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 ss276614212 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2219078 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
ss3162341TSC-CSHL|TSC1281907byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt06/08/0110/25/0696Genomicunknown
ss9912159BCM_SSAHASNP|chr2.NT_022171.13_10941222fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt06/27/0310/10/03116Genomicunknown
ss21578559SSAHASNP|WGSA-200403-chr2.chr2.NT_022171.13_10941222fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/20/0403/20/04121Genomicunknown
ss23243315PERLEGEN|afd0781607byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt08/10/0409/13/04123Genomicunknown
ss44224786ABI|hCV2171259fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt07/18/0507/18/05126Genomicunknown
ss66556308ILLUMINA|HumanHap300v1.1_rs2219078fwd/BA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/09/0611/09/06127Genomicunknown
ss67234779ILLUMINA|HumanHap550v1.1_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/14/0611/14/06127Genomicunknown
ss67630761ILLUMINA|HumanHap650Yv1.0_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/14/0611/14/06127Genomicunknown
ss68824109PERLEGEN|PGP00781607byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt01/30/0708/14/07127Genomicunknown
ss70713125ILLUMINA|HumanHap550v3.0__rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt04/20/0703/30/08130Genomicunknown
ss71280692ILLUMINA|HumanHap650Yv3.0_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt04/23/0704/23/07127Genomicunknown
ss75489308ILLUMINA|ILMN_Human_1M_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt08/28/0708/29/07129Genomicunknown
ss76572916AFFY|AFFY_6_1M_SNP_A-8434057rev/BC/Ttggtcaaaccaggaccgccaacaactggaaga08/28/0708/30/07129Genomicunknown
ss77570826HGSV|Cor12156_SNV_20070510.chr2_108333716fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt10/09/0710/13/07129Genomicunknown
ss79121184ILLUMINA|HumanHap300v2.0_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt04/18/0711/18/07130Genomicunknown
ss80099754HGSV|Cor18507_SNV_20070510.chr2_108333716fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/23/0711/24/07130Genomicunknown
ss83303260HGSV|Cor18555_SNV_20070510.chr2_108333716fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/27/0712/04/07130Genomicunknown
ss83605279HGSV|Cor18956_SNV_20070510.chr2_108333716fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt11/30/0712/05/07130Genomicunknown
ss83999610KRIBB_YJKIM|KHS597503fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt12/04/0712/06/07130Genomicunknown
ss86241339CORNELL|hCV2171259byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt01/21/0809/05/14129Genomicunknown
ss97064228HUMANGENOME_JCVI|1103658180305fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/28/0803/28/08130Genomicunknown
ss103556751BGI|BGI_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt06/06/0806/18/09131Genomicunknown
ss117824368ILLUMINA-UK|NA18507_000137737_NCBI36.1_chr2_108241630fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt01/19/0901/20/09130Genomic99 %
ss121954047ILLUMINA|HumanCNV370v1_C_rs2219078fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt04/14/0904/14/09131Genomicunknown
ss136201789ENSEMBL|ENSSNP1574955fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt12/08/0810/15/09131Genomicunknown
ss153885709ILLUMINA|Human610_Quadv1_B_rs2219078-128_T_F_1501727998fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt06/18/0906/20/09131Genomicunknown
ss157481635GMI|GMI_SNP_107576109fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt06/24/0906/25/09131Genomicunknown
ss159369278ILLUMINA|Human660W-Quad_v1_A_rs2219078-128_T_F_1501727998fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt07/06/0907/07/09131Genomicunknown
ss159702545SEATTLESEQ|SULT1C3-108241630fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt07/10/0907/10/09131Genomicunknown
ss160516056ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2219078-128_T_F_1501727998fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt08/04/0910/02/09131Genomicunknown
ss164957758COMPLETE_GENOMICS|NA07022_36_chr2_108241630fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt09/29/0909/30/09132Genomicunknown
ss166997680COMPLETE_GENOMICS|NA20431_36_chr2_108241630fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt09/30/0909/30/09132Genomicunknown
ss171098174ILLUMINA|HumanCNV370-Quadv3_C_rs2219078-128_T_F_1501727998fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt10/01/0910/03/09132Genomicunknown
ss173186321ILLUMINA|Human1M-Duov3_B_rs2219078-128_T_F_1501727998fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt10/01/0910/03/09132Genomicunknown
ss200861919BUSHMAN|BUSHMAN-chr2-108241629byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt02/16/1009/05/14132Genomicunknown
ss205883239BCM-HGSC-SUB|BCM_CMT_1011-456855fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/15/1003/16/10132Genomicunknown
ss2109680931000GENOMES|YRI.trio.3.2010_177124_chr2_108241630fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/29/1003/29/10132Genomicunknown
ss2194272451000GENOMES|pilot_1_YRI_1236928_chr2_108241630fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt04/22/1004/22/10132Genomicunknown
ss2313023011000GENOMES|pilot_1_CEU_906930_chr2_108241630fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt05/01/1005/01/10132Genomicunknown
ss2388254201000GENOMES|pilot_1_CHB+JPT_710497_chr2_108241630fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt05/01/1005/01/10132Genomicunknown
ss276614212GMI|GMI_AK_SNP_934421fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt12/16/1012/16/10137Genomicunknown
ss284407985GMI|GMI_NA10851_SNP_420756fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt12/17/1012/17/10138Genomicunknown
ss292338588PJP|SNP_1844946_chr2_108241630fwd/A/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt01/21/1101/21/11134Genomicunknown
ss342073287NHLBI-ESP|ESP2500-chr2-108875198byFreqfwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/25/1109/05/14134Genomicunknown
ss481278435ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2219078-131_T_F_1863036480fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg01/30/1208/28/15146Genomicunknown
ss483877567ILLUMINA|HumanOmni2.5-4v1_B_SNP2-108241630-0_T_F_1616205657fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg01/30/1210/28/16137Genomicunknown
ss484015140ILLUMINA|HumanOmni2.5-4v1_D_kgp8026986-0_T_F_1813500456fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg01/30/1210/28/16137Genomicunknown
ss4898281071000GENOMES|20110521_exome_347546_chr2_108875198fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt02/10/1202/21/12137Genomicunknown
ss491322871EXOME_CHIP|nonsyn_39098_chr_2_108875198fwd/TA/Gacagtgctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaaggatggt03/05/1203/05/12137Genomicunknown
ss491789214CLINSEQ_SNP|SNV-chr2-108241630byFreqfwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/06/1209/05/14137Genomicunknown
ss536207765ILLUMINA|HumanOmni5-4v1_B_kgp8026986-0_T_F_1813500456fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg06/22/1208/28/15146Genomicunknown
ss555781070TISHKOFF|snp_chr2_108875198fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/22/1211/23/12138Genomicunknown
ss649397934SSMP|2_108875198fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg12/14/1202/10/15138Genomicunknown
ss779436294ILLUMINA|HumanOmni25Exome-8v1_A_kgp8026986-0_T_F_1813500456fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/30/1307/09/15146Genomicunknown
ss780785818ILLUMINA|HumanOmni25Exome-8v1_A_exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/30/1307/09/15146Genomicunknown
ss782452057ILLUMINA|HumanOmni2.5-4v1_H_kgp8026986-0_T_F_1813500456fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/30/1307/28/15146Genomicunknown
ss783466362ILLUMINA|HumanOmniExpressExome-8v1_A_exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/31/1306/19/15146Genomicunknown
ss825451702ILLUMINA|HumanCNV370v1_C_rs2219078-126_T_F_IFB1136463966:0fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg06/24/1311/21/14144Genomicunknown
ss834905686ILLUMINA|HumanOmni2.5-8v1_A_kgp8026986-0_T_F_1813500456fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg09/18/1307/28/15146Genomicunknown
ss977198858EVA-GONL|EVA-GONL_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg04/23/1404/23/14142Genomicunknown
ss1067440012JMKIDD_LAB|HGDP_exomes_chr2_108875198fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg07/09/1407/09/14142Genomicunknown
ss1069379393JMKIDD_LAB|HGDP_WGS_chr2_108875198fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg07/10/1407/10/14142Genomicunknown
ss12986923791000GENOMES|PHASE3_V1_9735953fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg08/16/1408/16/14142Genomicunknown
ss1397301278HAMMER_LAB|HAMMER_LAB_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg09/30/1409/30/14146Genomicunknown
ss1428685784DDI|DDI_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/04/1411/04/14144Genomicunknown
ss1579021747EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg02/19/1502/20/15144Genomicunknown
ss1584020282EVA_FINRISK|EVA_FINRISK_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg02/27/1502/27/15144Genomicunknown
ss1586623362EVA_DECODE|EVA_DECODE_2_108241630_825266_rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/02/1503/02/15144Genomicunknown
ss1604248289EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_108875198_5348911fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/04/1503/04/15144Genomicunknown
ss1647242322EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_108875198_5348911fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/04/1503/04/15144Genomicunknown
ss1686459561EVA_EXAC|EVA_EXAC_1338248fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/04/1503/04/15144Genomicunknown
ss1710975295EVA_MGP|EVA_XIMO_92047fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/09/1503/09/15144Genomicunknown
ss1712479804EVA_SVP|EVA_SVP_174356fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg03/12/1503/12/15144Genomicunknown
ss1752304191ILLUMINA|OmniExpressExome-8v1-1_B_exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/27/1506/09/15146Genomicunknown
ss1797259706HAMMER_LAB|Hsieh_1026312fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg07/15/1507/15/15146Genomicunknown
ss1917752547ILLUMINA|HumanExome-12v1-1_B_exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg10/16/1510/16/15147Genomicunknown
ss1920442930WEILL_CORNELL_DGM|SNV:chr2:108875198fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg10/16/1510/16/15147Genomicunknown
ss1946048800ILLUMINA|HumanCoreExome-12v1-0_C_exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg10/29/1510/29/15147Genomicunknown
ss1958446880ILLUMINA|exm219026-0_T_F_1918940555fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/13/1511/13/15147Genomicunknown
ss1968851184GENOMED|rs2219078fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg02/16/1602/16/16147Genomicunknown
ss2020752032JJLAB|SNP1254587fwd/TA/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg08/29/1608/30/16149Genomicunknown
ss2148807213USC_VALOUEV|NC_000002.11:g.108875198G>Afwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/17/1611/17/16150Genomicunknown
ss2233117588HUMAN_LONGEVITY|HLI-2-108258742-G-Afwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/18/1611/18/16150Genomicunknown
ss2399311130TOPMED|2_108875198_G/Afwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg11/19/1611/19/16150Genomicunknown
ss2624881832SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV788194fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg01/06/1701/06/17151Genomicunknown
ss2633655646ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp8026986-0_T_F_181350045fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg02/02/1702/02/17151Genomicunknown
ss2703413338GRF|rs2219078fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg02/13/1702/13/17151Genomicunknown
ss2732899760GNOMAD|exomes_rs2219078fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/17/1705/17/17151Genomicunknown
ss2746752370GNOMAD|coding_rs2219078fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/17/1705/17/17151Genomicunknown
ss2777803288GNOMAD|rs2219078fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/17/1705/17/17151Genomicunknown
ss2985181608AFFY|Axiom_PsorMich_Affx-17214114fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/24/1705/24/17151Genomicunknown
ss2990148708SWEGEN|NC_000002.11:g.108875198G>Afwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg05/30/1705/30/17151Genomicunknown
ss3022002946ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm219026-0_T_F_1918940555fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg06/28/1706/28/17151Genomicunknown
ss3024138301BIOINF_KMB_FNS_UNIBA|2.108258742G>Afwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg07/05/1707/05/17151Genomicunknown
ss3318748504TOPMED|TOPMed_freeze_5?chr2:108,258,742fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg10/02/1710/02/17151Genomicunknown
ss3344399132CSHL|rs2219078fwd/A/Ggctctgacttcttccagttgttggcggtcctggtttgaccatgtgaaagg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2219078|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CTAGTGAAAA GAAAATGCAT CCCATGTTTA CCACGTAGAC ACAGCCTCAG CTGGAAATAG
 AAGTTCTCCT GGAGGGCACC CCTCTTTCTG CTGCTGCTGA GTCTCTTTTG GAAGAGGAAC
 TTGCAAACTG CATAGTGCAG CTATACAGGG AAAGCAGCAG GAGGACCCTA CCCATTTATA
 GGATGGCCTG AATTAGTTGA GTCTGAAACT AAACATGGTT TACCAGGAAC AGGGGAAGAA
 TTTTATTGCC GAATGTTTTA AGACATGTCA CAAGACATAG TCAATGTGTG CAAAGTCACA
 TATAATAAAT GTGTACTATA AATCTCGGCT TTACACCATA TAGACAAATT TTATTACTAG
 AAAATTATTT CCACTTCGTT AAGGAACCAG AACGATAGTT ACAGAAGCTT ATTTCAAAGG
 AGCACTAATT TACTTTATAG CCTTGGGTTT TGTCCCAGTA CTGGGAACTA ACAGTGCTCT
 GACTTCTTCC AGTTGTTGGC
 R
 GGTCCTGGTT TGACCATGTG AAAGGATGGT GGGCTGCAAA AGACATGCAC CGGATCCTCT
 ACCTCTTCTA CGAGGATATT AAAAAAGTAA GTGGCACTGA GACTTATAGG TCAGACCCAG
 AAACCCTCCT GACAATGTTA TTCTGTTAAA AAGCTGTGTC TTTAATTGGC CAAGTTCTTC
 TTCTTTCCTC CCTCTTCACA ATGCCTTTTT CTCCCATGAT CAGAATCCAA AACATGAGAT
 CCACAAGGTG TTGGAATTCT TGGAGAAAAC TTGGTCAGGT GATGTTATAA ACAAGATTGT
 CCACCATACC TCATTTGATG TAATGAAGGA TAATCCCATG GCCAACCATA CTGCGGTACC
 TGCTCACATA TTCAATCACT CCATCTCAAA ATTTATGAGG AAAGGTTGGT GGCATTTCTT
 TTCCTTAACT GAACTCTAAA AAATTTTCTA CCCTATATGC TAAAATAATT TTCAACCTAA
 TTTTCAGGCA GAAGTGACTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022171 ABBA01000753
dbSNP Blast Analysis
3D structure mapping
NP_001008743  

  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
A/G
G
G/G
N
HWPA
G
N
ss117824368YRI 2IG 1.00000000 0.500000000.50000000
ss1298692379EAS 1008AF 0.676600040.32340002
EUR 1006AF 0.191800000.80820000
AFR 1322AF 0.306400000.69360000
AMR 694AF 0.387599970.61240000
SAS 978AF 0.207600010.79240000
ss136201789ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss164957758CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss166997680PGP 2IG 1.00000000 0.500000000.50000000
ss1686459561ExAc_Aggregated_Populations121404AF 0.280031950.71996802
ss200861919BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss219427245pilot_1_YRI_low_coverage_panel 118AF 0.313559320.68644071
ss231302301pilot_1_CEU_low_coverage_panel 120AF 0.224999990.77499998
ss23243315AFD_EUR_PANELEuropean 46IG 0.130434780.34782609 0.52173913 0.402784000.304347810.69565219
AFD_AFR_PANELAfrican American 42IG 0.047619050.71428573 0.23809524 0.050043000.404761910.59523809
AFD_CHN_PANELAsian 48IG 0.708333310.20833333 0.08333334 0.150222000.812500000.18750000
ss238825420pilot_1_CHB+JPT_low_coverage_panel 120AF 0.733333350.26666668
ss3162341HapMap-CEUEuropean 226IG 0.026548670.30973452 0.66371679 0.654721000.181415930.81858408
HapMap-HCBAsian 86IG 0.418604640.53488374 0.04651163 0.150222000.686046540.31395349
HapMap-JPTAsian 172IG 0.604651150.38372093 0.01162791 0.099721000.796511650.20348836
HapMap-YRISub-Saharan African 224IG 0.071428570.42857143 0.50000000 0.654721000.285714300.71428573
CHMJAsian 74IG0.70270270 0.28378379 0.01351351 0.702702700.283783790.01351351
HAPMAP-ASW 98IG 0.081632650.32653061 0.59183675 0.438578000.244897960.75510204
HAPMAP-CHBAsian 82IG 0.439024390.53658539 0.02439024 0.099721000.707317050.29268292
HAPMAP-CHD 170IG 0.494117650.43529412 0.07058824 0.583882000.711764690.28823531
HAPMAP-GIH 174IG 0.022988510.24137931 0.73563218 1.000000000.143678160.85632181
HAPMAP-LWK 178IG 0.089887640.41573033 0.49438202 1.000000000.297752800.70224720
HAPMAP-MEX 100IG 0.239999990.47999999 0.28000000 1.000000000.479999990.51999998
HAPMAP-MKK 286IG 0.069930070.37762237 0.55244756 1.000000000.258741260.74125874
HAPMAP-TSI 174IG 0.022988510.35632184 0.62068963 0.317310000.201149420.79885060
ss342073287ESP_Cohort_Populations 4546GF 0.058512980.35019797 0.59128904 0.317310000.233611970.76638806
ss491789214CSAgilent 1317GF 0.049000000.31999999 0.63099998 0.438578000.209000010.79100001
ss68824109HapMap-CEUEuropean 120IG 0.016666670.40000001 0.58333331 0.200325000.216666670.78333336
HapMap-HCBAsian 90IG 0.400000010.53333336 0.06666667 0.200325000.666666690.33333334
HapMap-JPTAsian 90IG 0.644444470.35555556 0.438578000.822222230.17777778
HapMap-YRISub-Saharan African 120IG 0.133333340.33333334 0.53333336 0.150222000.300000010.69999999
ss86241339AGI_ASP_populationmultiple 30IG 0.266666680.20000000 0.53333336 0.050043000.366666670.63333333
ss97064228J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.403+/-0.1970000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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