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Reference SNP (refSNP) Cluster Report: rs699                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.4516/54768 (ExAC)
A=0.2949/1477 (1000 Genomes)
A=0.4383/5701 (GO-ESP)
A=0.4030/50609 (TOPMED)
HGVS Names
  • CM000663.2:g.230710048A>G
  • NC_000001.10:g.230845794A>G
  • NC_000001.11:g.230710048A>G
  • NG_008836.1:g.9543T>C
  • NM_000029.3:c.803T>C
  • NP_000020.1:p.Met268Thr
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 ss276256126 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs699 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
ss704WIAF|WIAF-1344fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt01/23/9912/23/0336Genomicunknown
ss5428DEBNICK|cSNP-152fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt06/04/9910/10/0352cDNAunknown
ss6484ARAVINDA|CHAK00094byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt06/29/9904/07/0452Genomicunknown
ss11901CGAP-GAI|54470byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt08/23/9904/07/0492cDNA99 %
ss1510443LEE|37530fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt09/13/0010/10/0386cDNAunknown
ss3240877YUSUKE|IMS-JST050962byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt09/05/0110/10/03100Genomicunknown
ss3474289SC_JCM|AL157880.14_7139fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt09/24/0110/10/03100Genomicunknown
ss4404260LEE|e37530fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt04/26/0210/10/03106cDNAunknown
ss6695891WI_SSAHASNP|NT_021973.13_776783rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca02/12/0310/10/03111Genomicunknown
ss16264528CGAP-GAI|1529335fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt11/18/0311/22/03120cDNAunknown
ss16338660WIPGA|WI-50054byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt12/12/0304/07/04120Genomicunknown
ss16338962PARC|AGT-006862byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt12/17/0304/07/04120Genomicunknown
ss22886629IMCJ-GDT|IMCJ-AGT_2-ctbyFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt03/22/0410/26/06121Genomicunknown
ss24795960SEQUENOM|sqnm137107fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccc06/18/0406/18/04123cDNAunknown
ss28510655MGC_GENOME_DIFF|BC011519x37539921-A776783Grev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca08/25/0408/25/04126cDNAunknown
ss41315627ABI|hCV1985481byFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca07/16/0508/14/07126Genomicunknown
ss48405656APPLERA_GI|hCV1985481byFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca09/28/0511/03/06126Genomicunknown
ss65729138ILLUMINA|Human1-rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt10/10/0610/10/06127Genomicunknown
ss66689419ILLUMINA|HumanHap300v1.1_rs699fwd/TC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt11/09/0611/09/06127Genomicunknown
ss67526267ILLUMINA|HumanHap550v1.1_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt11/14/0611/14/06127Genomicunknown
ss67893963ILLUMINA|HumanHap650Yv1.0_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt11/14/0611/14/06127Genomicunknown
ss68756182PHARMGKB_PAAR-UCHI|PS205109_PA146863312_484byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt01/23/0703/31/08127Genomicunknown
ss70900601ILLUMINA|HumanHap550v3.0__rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt04/20/0703/31/08130Genomicunknown
ss71495837ILLUMINA|HumanHap650Yv3.0_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt04/23/0704/23/07127Genomicunknown
ss75563522ILLUMINA|ILMN_Human_1M_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt08/28/0708/29/07129Genomicunknown
ss76867062CGM_KYOTO|8417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca09/12/0709/12/07129cDNAunknown
ss76898489SI_EXO|NT_004559.13_7047948byFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca09/20/0709/05/14129Genomicunknown
ss79241387ILLUMINA|HumanHap300v2.0_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt04/18/0711/18/07130Genomicunknown
ss83344277KRIBB_YJKIM|KHS439381fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt12/04/0712/04/07130Genomicunknown
ss84151430PHARMGKB_PARC|PS206538_PA151493464_6862byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt12/06/0709/05/14130Genomicunknown
ss84169976PHARMGKB_GERA|PS205983_PA146855990_301byFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/06/0709/05/14130Genomicunknown
ss84733296HGSV|Cor18517_SNV_20070510.chr1_227152529rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/06/0712/07/07130Genomicunknown
ss86211304RSG_UW|AGT-006133byFreqfwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt12/12/0709/05/14129Genomicunknown
ss86215597RSG_JCVI|AGT-010525_010526-A_GbyFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/12/0709/05/14129Genomicunknown
ss86342331CANCER-GENOME|15558rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca01/25/0801/25/08129Genomicunknown
ss88003508BCMHGSC_JDW|JWB-0198635rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca02/26/0802/27/08129Genomicunknown
ss95211226CNG|17444648rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca03/13/0803/13/08129Genomicunknown
ss99294632HUMANGENOME_JCVI|1103675360420rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca04/03/0804/03/08130Genomicunknown
ss102830762BGI|BGI_rs699rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca06/04/0806/17/09131Genomicunknown
ss1090212051000GENOMES|CEU.trio.12.15.2008_265227_chr1_228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/16/0812/16/08130Genomicunknown
ss1119141881000GENOMES|NA19240_2008_12_16_241638_chr1_228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/17/0812/17/08130Genomicunknown
ss119241034ILLUMINA-UK|NA18507_000241337_NCBI36.1_chr1_228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca01/21/0901/22/09130Genomic99 %
ss120036571ILLUMINA|GS0007123-OPA_Ober-rs699rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca02/24/0902/24/09131Genomicunknown
ss122663428ILLUMINA|HumanCNV370v1_C_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt04/14/0904/15/09131Genomicunknown
ss139040775ENSEMBL|ENSSNP170869rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/08/0810/16/09131Genomicunknown
ss154396826ILLUMINA|Human610_Quadv1_B_rs699-128_B_F_1501836617fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt06/18/0906/20/09131Genomicunknown
ss156402016GMI|GMI_SNP_150012294rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca06/24/0906/25/09131Genomicunknown
ss159572250ILLUMINA|Human660W-Quad_v1_A_rs699-128_B_F_1501836617fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt07/06/0907/07/09131Genomicunknown
ss159700825SEATTLESEQ|AGT-228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca07/10/0907/10/09131Genomicunknown
ss160834104ILLUMINA|HumanOmni1-Quad_v1-0_B_rs699-128_B_F_1512206671fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt08/04/0910/04/09131Genomicunknown
ss167558898COMPLETE_GENOMICS|NA20431_36_chr1_228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca09/30/0909/30/09132Genomicunknown
ss172228947ILLUMINA|HumanCNV370-Quadv3_C_rs699-128_B_F_1501836617fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt10/01/0910/04/09132Genomicunknown
ss174195550ILLUMINA|Human1M-Duov3_B_rs699-128_B_F_1501836617fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt10/01/0910/04/09132Genomicunknown
ss199729303BUSHMAN|BUSHMAN-chr1-228912416rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca02/16/1003/06/10132Genomicunknown
ss2189334131000GENOMES|pilot_1_YRI_743096_chr1_228912417rev/A/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca04/22/1004/22/10132Genomicunknown
ss2309409601000GENOMES|pilot_1_CEU_545589_chr1_228912417rev/A/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca05/01/1005/01/10132Genomicunknown
ss2385475161000GENOMES|pilot_1_CHB+JPT_432593_chr1_228912417rev/A/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca05/01/1005/01/10132Genomicunknown
ss244307360ILLUMINA|CVDSNP55v1_A_rs699fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt06/10/1006/10/10132Genomicunknown
ss253884106BL|SNP220727_1_228912417rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca08/18/1008/19/10134Genomicunknown
ss262866345RSG_JCVI|AGT-007957_007958-A_GbyFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca09/24/1009/05/14134Genomicunknown
ss275513909OMIM-CURATED-RECORDS|306fwd/BC/Ttgacaggatggaagactggctgctccctgagggagccagtgtggacagcaccctggcttt11/22/1011/22/10133Genomicunknown
ss276256126GMI|GMI_AK_SNP_576293rev/A/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca12/16/1012/16/10137Genomicunknown
ss290753202PJP|SNP_259560_chr1_228912417rev/A/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca01/21/1101/21/11134Genomicunknown
ss342035784NHLBI-ESP|ESP2500-chr1-230845794byFreqrev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca03/25/1109/05/14134Genomicunknown
ss481424313ILLUMINA|HumanOmni2.5-4v1_B_rs699-128_B_F_1614288731rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc01/30/1210/28/16137Genomicunknown
ss481451642ILLUMINA|HumanOmniExpress-12v1_C_rs699-131_B_F_1862787252rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc01/30/1210/27/16137Genomicunknown
ss482431839ILLUMINA|HumanOmni1-Quad_v1-0_C_rs699-131_B_F_1865474115rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc01/30/1208/28/15146Genomicunknown
ss485507166ILLUMINA|HumanOmni2.5-4v1_D_rs699-131_B_F_1862787252rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc01/30/1210/27/16137Genomicunknown
ss4897962481000GENOMES|20110521_exome_331860_chr1_230845794rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca02/10/1202/21/12137Genomicunknown
ss491312311EXOME_CHIP|nonsyn_28538_chr_1_230845794rev/TA/Gaaagccagggtgctgtccacactggctccctcagggagcagccagtcttccatcctgtca03/05/1203/05/12137Genomicunknown
ss491617262CLINSEQ_SNP|SNV-chr1-228912417byFreqrev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/06/1209/05/14137Genomicunknown
ss537419439ILLUMINA|HumanOmni5-4v1_B_rs699-131_B_F_1908510078rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc06/22/1208/28/15146Genomicunknown
ss648772932SSMP|1_230845794rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc12/14/1202/10/15138Genomicunknown
ss778588039ILLUMINA|HumanOmni25Exome-8v1_A_rs699-131_B_F_1865474115rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/30/1307/09/15146Genomicunknown
ss780759502ILLUMINA|HumanOmni25Exome-8v1_A_exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/30/1307/09/15146Genomicunknown
ss783199131ILLUMINA|HumanOmni2.5-4v1_H_rs699-131_B_F_1862787252rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/30/1307/28/15146Genomicunknown
ss783438312ILLUMINA|HumanOmniExpressExome-8v1_A_exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/31/1306/18/15146Genomicunknown
ss784154108ILLUMINA|HumanOmniExpressExome-8v1_A_rs699-131_B_F_1908510078rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/31/1306/18/15146Genomicunknown
ss825571905ILLUMINA|HumanCNV370v1_C_rs699-126_B_F_IFB1135796028:0rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc06/24/1311/21/14144Genomicunknown
ss832459084ILLUMINA|HumanOmniExpress-12v1_H_rs699-131_B_F_1862787252rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc09/17/1306/18/15146Genomicunknown
ss834045208ILLUMINA|HumanOmni2.5-8v1_A_rs699-131_B_F_1865474115rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc09/18/1307/28/15146Genomicunknown
ss976246001EVA-GONL|EVA-GONL_rs699rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc04/23/1404/23/14142Genomicunknown
ss1067433170JMKIDD_LAB|HGDP_exomes_chr1_230845794rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc07/09/1407/09/14142Genomicunknown
ss1068678314JMKIDD_LAB|HGDP_WGS_chr1_230845794rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc07/10/1407/10/14142Genomicunknown
ss12950349191000GENOMES|PHASE3_V1_5932680rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc08/16/1408/16/14142Genomicunknown
ss1426140698DDI|DDI_rs699rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/04/1411/04/14144Genomicunknown
ss1574742361EVA_GENOME_DK|EVA_GENOME_DK_snv_rs699rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/19/1502/19/15144Genomicunknown
ss1584015822EVA_FINRISK|EVA_FINRISK_rs699rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/27/1502/27/15144Genomicunknown
ss1602344742EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_230845794_3264095rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/04/1503/04/15144Genomicunknown
ss1645338775EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_230845794_3264095rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/04/1503/04/15144Genomicunknown
ss1686106090EVA_EXAC|EVA_EXAC_956503rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/04/1503/04/15144Genomicunknown
ss1710947378EVA_MGP|EVA_XIMO_64130rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/09/1503/09/15144Genomicunknown
ss1712412874EVA_SVP|EVA_SVP_107426rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/12/1503/12/15144Genomicunknown
ss1751904327ILLUMINA|OmniExpressExome-8v1-1_B_exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/27/1506/09/15146Genomicunknown
ss1751904328ILLUMINA|OmniExpressExome-8v1-1_B_rs699-131_B_F_1908510078rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/27/1506/09/15146Genomicunknown
ss1917743741ILLUMINA|HumanExome-12v1-1_B_exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc10/16/1510/16/15147Genomicunknown
ss1919467681WEILL_CORNELL_DGM|SNV:chr1:230845794rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc10/16/1510/16/15147Genomicunknown
ss1946026293ILLUMINA|HumanCoreExome-12v1-0_C_exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc10/29/1510/29/15147Genomicunknown
ss1946026294ILLUMINA|HumanCoreExome-12v1-0_C_rs699-131_B_F_1908510078rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc10/29/1510/29/15147Genomicunknown
ss1958366161ILLUMINA|exm158099-0_B_R_1921361752rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/13/1511/13/15147Genomicunknown
ss1958366162ILLUMINA|rs699-131_B_F_1908510078rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/13/1511/13/15147Genomicunknown
ss1966996816GENOMED|rs699rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/16/1602/16/16147Genomicunknown
ss2020259070JJLAB|SNP761625rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc08/29/1608/30/16149Genomicunknown
ss2094786875ILLUMINA|Immuno_BeadChip_11419691_B_rs699-131_B_F_1865474115rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc09/27/1609/27/16150Genomicunknown
ss2095002557ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs699-131_B_F_1865474115rev/TA/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc09/27/1609/27/16150Genomicunknown
ss2148294810USC_VALOUEV|NC_000001.10:g.230845794A>Grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/17/1611/17/16150Genomicunknown
ss2170880478HUMAN_LONGEVITY|HLI-1-230710048-A-Grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/18/1611/18/16150Genomicunknown
ss2333529217TOPMED|1_230845794_A/Grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc11/19/1611/19/16150Genomicunknown
ss2624641481SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV485054rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc01/06/1701/06/17151Genomicunknown
ss2632641552ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs699-131_B_F_1908510078rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/02/1702/02/17151Genomicunknown
ss2635008215ILLUMINA|Cancer_BeadChip_11459870_A_rs699-128_B_F_1614288731rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/02/1702/02/17151Genomicunknown
ss2698294649GRF|rs699rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc02/13/1702/13/17151Genomicunknown
ss2710696776ILLUMINA|Consortium-OncoArray_15047405_A_rs699-131_B_F_1908510078rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc03/22/1703/22/17151Genomicunknown
ss2732354723GNOMAD|exomes_rs699rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/17/1705/17/17151Genomicunknown
ss2746586389GNOMAD|coding_rs699rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/17/1705/17/17151Genomicunknown
ss2767311573GNOMAD|rs699rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/17/1705/17/17151Genomicunknown
ss2984897294AFFY|Axiom_PsorMich_Affx-7605649rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/24/1705/24/17151Genomicunknown
ss2985540500AFFY|Axiom_Smokesc1_Affx-7605649rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/24/1705/24/17151Genomicunknown
ss2988609550SWEGEN|NC_000001.10:g.230845794A>Grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc05/30/1705/30/17151Genomicunknown
ss3021190151ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm158099-0_B_R_1921361752rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc06/28/1706/28/17151Genomicunknown
ss3021190152ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs699-138_B_F_2258056576rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc06/28/1706/28/17151Genomicunknown
ss3023057694EVA_SAMSUNG_MC|EXOMES.1:g230845794a>grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc07/03/1707/03/17151Genomicunknown
ss3023890141BIOINF_KMB_FNS_UNIBA|1.230710048A>Grev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc07/05/1707/05/17151Genomicunknown
ss3105901501TOPMED|TOPMed_freeze_5?chr1:230,710,048rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc09/28/1709/28/17151Genomicunknown
ss3343956717CSHL|rs699rev/A/Gcagggtgctgtccacactggctccctcagggagcagccagtcttccatcc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs699|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GAGGGCCGCA ATGGTCGGGA TGCTGGCCAA CTTCTTGGGC TTCCGTATAT ATGGCATGCA
 CAGTGAGCTA TGGGGCGTGG TCCATGGGGC CACCGTCCTC TCCCCAACGG CTGTCTTTGG
 CACCCTGGCC TCTCTCTATC TGGGAGCCTT GGACCACACA GCTGACAGGC TACAGGCAAT
 CCTGGGTGTT CCTTGGAAGG ACAAGAACTG CACCTCCCGG CTGGATGCGC ACAAGGTCCT
 GTCTGCCCTG CAGGCTGTAC AGGGCCTGCT AGTGGCCCAG GGCAGGGCTG ATAGCCAGGC
 CCAGCTGCTG CTGTCCACGG TGGTGGGCGT GTTCACAGCC CCAGGCCTGC ACCTGAAGCA
 GCCGTTTGTG CAGGGCCTGG CTCTCTATAC CCCTGTGGTC CTCCCACGCT CTCTGGACTT
 CACAGAACTG GATGTTGCTG CTGAGAAGAT TGACAGGTTC ATGCAGGCTG TGACAGGATG
 GAAGACTGGC TGCTCCCTGA
 Y
 GGGAGCCAGT GTGGACAGCA CCCTGGCTTT CAACACCTAC GTCCACTTCC AAGGTAAGGC
 AAACCTCTCT GCTGGCTCTG GCCCTAGGAC TTAGTATCCA ATGTGTAGCT GAGATCAGCC
 AGTCAGGCCT TGGAGATGGG CAGGGGGCAG CCCTGCGGAC ATACCTGGTG ACCACCCTTG
 AGAAGTGGGG AAGTGGCTGC TCCGCTGGGT CCCTGGATGG GCCGTCCACC TCCTGGACCT
 GCTGCCCTAC TATGTGCACG ACTATACAAC ATCCTTTTTC TTACATCATT TAATCCCCTT
 ATGATGTGGT GAAGAGGTAT TTGTGCCTTT GTTTACCAGT GAAGAAATAG AGACTCGGAG
 AAACAAAGTG CCTTGCTCAA GATGGCACAG CCACCAGTGG GGGTCCTGGG ATTGAAACCC
 ACATCTCCTG GCCCCACAGC CCAGTTCTAC ACTCAGAAGG GTCAGGTTCA TATCTCTTGA
 GAAGGTCAGG AACTGGGGTC

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
G44347 sqnm137107 X15324 ABBA01033026 AL512328 BC011519 BI962959 Hs.3697 NM_000029
dbSNP Blast Analysis
UniGene Cluster ID
19383
3D structure mapping
NP_000020  
OMIM
106150.0001

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs699 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
C
C/C
C/T
G/G
T/T
HWPA
C
G
T
ss11901POOLED_CEPH 188AF 0.42799997 0.57200003
ss119241034YRI 2IG 1.00000000 0.50000000 0.50000000
ss1295034919EAS 1008AF 0.85319996 0.14680000
EUR 1006AF 0.41150001 0.58850002
AFR 1322AF 0.90319997 0.09680000
AMR 694AF 0.63540000 0.36460000
SAS 978AF 0.63599998 0.36399999
ss139040775ENSEMBL_Venter 2IG 1.00000000 0.50000000 0.50000000
ss16338660POP-WIPGA-12-05-2003multiple 78IG 0.384615390.43589744 0.179487180.58388200 0.60256410 0.39743590
ss16338962PARC-AFRICAN-PANELAfrican American 48IG 0.708333310.25000000 0.041666670.65472100 0.83333331 0.16666667
PARC-EUROPEAN-PANELEuropean 46IG 0.130434780.65217394 0.217391300.15022200 0.45652175 0.54347825
CEPH 184AF 0.43000001 0.56999999
ss167558898PGP 2IG 1.00000000 0.50000000 0.50000000
ss1686106090ExAc_Aggregated_Populations121412AF 0.54821599 0.45178401
ss199729303BANTU 1IG 1.00000000 1.00000000
ss218933413pilot_1_YRI_low_coverage_panel 118AF 0.89830506 0.10169491
ss22886629IMCJ-JP2 88AF 0.84100002 0.15899999
IMCJ-AA1 194AF 0.83000004 0.17000000
IMCJ-CA1 198AF 0.38900003 0.61100000
IMCJ-JP1 130AF 0.80000001 0.20000000
ss230940960pilot_1_CEU_low_coverage_panel 120AF 0.35833332 0.64166665
ss238547516pilot_1_CHB+JPT_low_coverage_panel 120AF 0.80833334 0.19166666
ss262866345R132_ISDP1 2014AF 0.67775571 0.32224429
ss3240877JBIC-allele 1064AF 0.81199998 0.18799999
ss342035784ESP_Cohort_Populations 4532GF 0.370697260.40953222 0.219770520.00100000 0.57546335 0.42453662
ss41315627CABG_NORTHAMERICAN 2136GF 0.219101130.46910113 0.311797740.09972100 0.45365170 0.54634833
ss48405656AGI_ASP populationmultiple 76IG 0.500000000.23684211 0.263157900.00250100 0.61842108 0.38157895
ss491617262CSAgilent 1316GF 0.186813210.46353647 0.349650380.25059200 0.41858143 0.58141857
ss6484HYP1 80AF 0.89999998 0.10000000
ss68756182PA146863313 2070AF 0.72077292 0.27922705
ss76898489HapMap-CEUEuropean 226IG 0.194690270.43362832 0.371681420.27332200 0.41150442 0.58849555
HapMap-HCBAsian 86IG 0.511627910.41860464 0.069767451.00000000 0.72093022 0.27906978
HapMap-JPTAsian 172IG 0.686046540.30232558 0.011627910.31731000 0.83720928 0.16279070
HapMap-YRISub-Saharan African 226IG 0.840707960.15929204 0.75183000 0.92035401 0.07964602
POP 1 160GF0.824999990.17500000 0.402784000.91250002 0.08750000
POP 2 160GF0.774999980.22499999 0.273322000.88749999 0.11250000
POP 3 160GF0.787500020.20000000 0.01250000 1.000000000.88749999 0.11250000
HAPMAP-ASW 98IG 0.571428600.34693879 0.081632650.58388200 0.74489796 0.25510204
HAPMAP-CHBAsian 82IG 0.756097560.21951219 0.024390240.75183000 0.86585367 0.13414635
HAPMAP-CHD 170IG 0.670588250.28235295 0.047058820.52708900 0.81176472 0.18823530
HAPMAP-GIH 176IG 0.375000000.46590909 0.159090911.00000000 0.60795456 0.39204547
HAPMAP-LWK 180IG 0.800000010.18888889 0.011111111.00000000 0.89444447 0.10555556
HAPMAP-MEX 100IG 0.479999990.41999999 0.100000001.00000000 0.69000000 0.31000000
HAPMAP-MKK 286IG 0.727272750.25874126 0.013986010.52708900 0.85664338 0.14335664
HAPMAP-TSI 176IG 0.215909090.43181819 0.352272720.27332200 0.43181819 0.56818181
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss84151430PA151493465 94AF 0.64893615 0.35106382
ss84169976PA146855991 1036AF 0.62451738 0.37548262
ss86211304CHAKRAVARTI_CLINICAL_PANEL 964AF 0.65145230 0.34854773
CHAKRAVARTI_CAUCASIAN_CLINICAL_PANEL 460AF 0.44565219 0.55434781
CHAKRAVARTI_AFRICAN_AMERICAN_CLINICAL_PANEL 496AF 0.84274191 0.15725806
ss86215597R44_ISDP1 554AF 0.43862817 0.56137186
ss99294632J. Craig Venter 2IG 1.00000000 0.50000000 0.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.495+/-0.0480000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNYESYES

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