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Reference SNP (refSNP) Cluster Report: rs7412                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.0718/972 (ExAC)
T=0.0751/376 (1000 Genomes)
T=0.0663/627 (GO-ESP)
T=0.0821/10314 (TOPMED)
HGVS Names
  • CM000681.2:g.44908822C>T
  • NC_000019.10:g.44908822C>T
  • NC_000019.9:g.45412079C>T
  • NG_007084.2:g.8041C>T
  • NM_000041.3:c.526C>T
  • NM_001302688.1:c.604C>T
  • NM_001302689.1:c.526C>T
  • NM_001302690.1:c.526C>T
  • NM_001302691.1:c.526C>T
  • NP_000032.1:p.Arg176Cys
  • NP_001289617.1:p.Arg202Cys
  • NP_001289618.1:p.Arg176Cys
  • NP_001289619.1:p.Arg176Cys
  • NP_001289620.1:p.Arg176Cys
  • XP_005258924.1:p.Arg202Cys
  • XP_005258925.1:p.Arg176Cys
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 ss283224141 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7412 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
ss9266CGAP-GAI|49743fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg08/23/9910/10/0352cDNA99 %
ss870165DEBNICK|ae4075byFreqfwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg08/29/0004/07/0486Genomicunknown
ss1542565LEE|830440rev/TA/Gcgcgggccccggcctggtacactgccaggccttctgcaggtcatcggcatcgcggaggag09/13/0010/10/0386cDNAunknown
ss4429119LEE|e830440rev/TA/Gcgcgggccccggcctggtacactgccaggccttctgcaggtcatcggcatcgcggaggag04/26/0210/10/03106cDNAunknown
ss12568612CUORCGL|SNP3byFreqfwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg07/08/0310/25/06117Genomicunknown
ss15840556SC_SNP|NT_011109.15_17680297byFreqfwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg11/17/0305/16/04120Genomicunknown
ss16231140CGAP-GAI|1470428fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg11/18/0311/22/03120cDNAunknown
ss75234864ILLUMINA|ILMN_Human_1M_rs7412fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg08/28/0708/29/07129Genomicunknown
ss107936539RSG_UW|APOE-005012byFreqfwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg12/08/0809/05/14130Genomicunknown
ss119338070KRIBB_YJKIM|KHS1500317fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg02/04/0902/04/09131Genomicunknown
ss160878071ILLUMINA|HumanOmni1-Quad_v1-0_B_rs7412-128_B_F_1514224636fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg08/04/0910/04/09131Genomicunknown
ss168244006COMPLETE_GENOMICS|NA07022_36_chr19_50103919fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg09/30/0909/30/09132Genomicunknown
ss174365507ILLUMINA|Human1M-Duov3_B_rs7412-128_B_F_1514224636fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg10/01/0910/04/09132Genomicunknown
ss181341927PAGE_STUDY|PAGE_WHI_rs7412rev/TA/Gcgcgggccccggcctggtacactgccaggccttctgcaggtcatcggcatcgcggaggag12/04/0912/04/09132Genomicunknown
ss203765855BUSHMAN|BUSHMAN-chr19-50103918fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg02/16/1003/09/10132Genomicunknown
ss2281565551000GENOMES|pilot_1_YRI_9966238_chr19_50103919fwd/C/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg04/22/1004/22/10132Genomicunknown
ss2376895971000GENOMES|pilot_1_CEU_7294226_chr19_50103919fwd/C/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg05/01/1005/01/10132Genomicunknown
ss2438924321000GENOMES|pilot_1_CHB+JPT_5777509_chr19_50103919fwd/C/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg05/01/1005/01/10132Genomicunknown
ss244239675OMICIA|2010_April_001_002_APOE_107741_0001fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg05/27/1005/28/10132Genomicunknown
ss244309427ILLUMINA|CVDSNP55v1_A_rs7412fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg06/10/1006/10/10132Genomicunknown
ss275517959OMIM-CURATED-RECORDS|503fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg12/03/1012/03/10133Genomicunknown
ss283224141GMI|GMI_AK_SNP_7544562fwd/C/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg12/16/1012/16/10137Genomicunknown
ss410828265ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr19_50103919fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg06/07/1106/07/11135Genomicunknown
ss469414606PAGE_STUDY|PAGE_MEC_Y1_rs7412fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc09/26/1109/26/11137Genomicunknown
ss481561588ILLUMINA|HumanOmni2.5-4v1_B_rs7412-128_B_F_1615266162fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc01/30/1210/28/16137Genomicunknown
ss481591097ILLUMINA|HumanOmniExpress-12v1_C_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc01/30/1210/27/16137Genomicunknown
ss482563225ILLUMINA|HumanOmni1-Quad_v1-0_C_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc01/30/1208/28/15146Genomicunknown
ss485575806ILLUMINA|HumanOmni2.5-4v1_D_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc01/30/1210/28/16137Genomicunknown
ss4911617531000GENOMES|20110521_exome_669551_chr19_45412079fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg02/10/1202/22/12137Genomicunknown
ss491549550EXOME_CHIP|nonsyn_265776_chr_19_45412079fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg03/05/1203/06/12137Genomicunknown
ss537712917NCBI-CURATED-RECORDS|32902_2fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg07/19/1201/04/13137Genomicunknown
ss661874597SSMP|19_45412079fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc12/14/1202/14/15138Genomicunknown
ss713519653NHLBI-ESP|ESP6500SI-chr19-45412079fwd/BC/Tctcctccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggcccgcg02/20/1302/20/13138Genomicunknown
ss783233469ILLUMINA|HumanOmni2.5-4v1_H_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/30/1307/29/15146Genomicunknown
ss783424859ILLUMINA|HumanOmniExpressExome-8v1_A_exm1479366-0_B_F_1923260329fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/31/1306/19/15146Genomicunknown
ss832493923ILLUMINA|HumanOmniExpress-12v1_H_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc09/17/1306/18/15146Genomicunknown
ss974506673JMKIDD_LAB|KhoeSan_Exomes_chr19_45412079fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/06/1403/06/14142Genomicunknown
ss994339188EVA-GONL|EVA-GONL_rs7412fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc04/23/1405/01/14142Genomicunknown
ss13633261911000GENOMES|PHASE3_V1_77055814fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc08/16/1408/16/14142Genomicunknown
ss1578653636EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7412fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc02/19/1502/20/15144Genomicunknown
ss1638043658EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_45412079_42493853fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/04/1503/04/15144Genomicunknown
ss1681037691EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_45412079_42493853fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/04/1503/04/15144Genomicunknown
ss1693665421EVA_EXAC|EVA_EXAC_9103442fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/04/1503/04/15144Genomicunknown
ss1698394132EVA_DECODE|EVA_DECODE_19_50103919_334937_rs7412fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/02/1503/05/15144Genomicunknown
ss1713664899EVA_SVP|EVA_SVP_1358978fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/12/1503/12/15144Genomicunknown
ss1752288225ILLUMINA|OmniExpressExome-8v1-1_B_exm1479366-0_B_F_1923260329fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/27/1506/09/15146Genomicunknown
ss1752288226ILLUMINA|OmniExpressExome-8v1-1_B_rs7412-131_B_F_1908532804fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/27/1506/09/15146Genomicunknown
ss1917938922ILLUMINA|HumanExome-12v1-1_B_exm1479366-0_B_F_1923260329fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc10/16/1510/16/15147Genomicunknown
ss1937835823WEILL_CORNELL_DGM|SNV:chr19:45412079fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc10/16/1510/19/15147Genomicunknown
ss1946537659ILLUMINA|HumanCoreExome-12v1-0_C_exm1479366-0_B_F_1923260329fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc10/29/1510/29/15147Genomicunknown
ss1959869693ILLUMINA|exm1479366-0_B_F_1923260329fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc11/13/1511/13/15147Genomicunknown
ss2029695319JJLAB|SNP10197874fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc08/29/1608/31/16149Genomicunknown
ss2094804140ILLUMINA|Immuno_BeadChip_11419691_B_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc09/27/1609/27/16150Genomicunknown
ss2095085224ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs7412-131_B_F_1852928551fwd/BC/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc09/27/1609/27/16150Genomicunknown
ss2158238083USC_VALOUEV|NC_000019.9:g.45412079C>Tfwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc11/17/1611/17/16150Genomicunknown
ss2226012259HUMAN_LONGEVITY|HLI-19-44908822-C-Tfwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc11/18/1611/18/16150Genomicunknown
ss2391820678TOPMED|19_45412079_C/Tfwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc11/19/1611/19/16150Genomicunknown
ss2633544201ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs7412-131_B_F_1908532804fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc02/02/1702/02/17151Genomicunknown
ss2633544202ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs7412-131_B_F_2130252fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc02/02/1702/02/17151Genomicunknown
ss2635083902ILLUMINA|Cancer_BeadChip_11459870_A_rs7412-128_B_F_1615266162fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc02/02/1702/02/17151Genomicunknown
ss2710884165ILLUMINA|Consortium-OncoArray_15047405_A_rs7412-131_B_F_1908532804fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc03/22/1703/22/17151Genomicunknown
ss2744090577GNOMAD|exomes_rs7412fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/17/1705/17/17151Genomicunknown
ss2750218836GNOMAD|coding_rs7412fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/17/1705/17/17151Genomicunknown
ss2963330131GNOMAD|rs7412fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/23/1705/23/17151Genomicunknown
ss2985144683AFFY|Axiom_PsorMich_Affx-16020324fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/24/1705/24/17151Genomicunknown
ss2985775661AFFY|Axiom_Smokesc1_Affx-16020324fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/24/1705/24/17151Genomicunknown
ss3017540730SWEGEN|NC_000019.9:g.45412079C>Tfwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc05/30/1705/30/17151Genomicunknown
ss3021911610ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs7412_fwd_dup1-138_B_F_23164fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc06/28/1706/28/17151Genomicunknown
ss3021911611ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs7412_fwd_f2bt_dup1-138_B_F_fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc06/28/1706/28/17151Genomicunknown
ss3021911612ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs7412_rev_dup1-138_T_R_23164fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc06/28/1706/28/17151Genomicunknown
ss3021911613ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs7412_rev_f2bt_dup1-138_T_R_fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc06/28/1706/28/17151Genomicunknown
ss3294331472TOPMED|TOPMed_freeze_5?chr19:44,908,822fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc10/02/1710/02/17151Genomicunknown
ss3352320694CSHL|rs7412fwd/C/Tccgcgatgccgatgacctgcagaaggcctggcagtgtaccaggccggggc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7412|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CACCTTGCCC GGCCTCCTAG CTCCTTCTTC GTCTCTGCCT CTGCCCTCTG CATCTGCTCT
 CTGCATCTGT CTCTGTCTCC TTCTCTCGGC CTCTGCCCCG TTCCTTCTCT CCCTCTTGGG
 TCTCTCTGGC TCATCCCCAT CTCGCCCGCC CCATCCCAGC CCTTCTCCCC GCCTCCCACT
 GTGCGACACC CTCCCGCCCT CTCGGCCGCA GGGCGCTGAT GGACGAGACC ATGAAGGAGT
 TGAAGGCCTA CAAATCGGAA CTGGAGGAAC AACTGACCCC GGTGGCGGAG GAGACGCGGG
 CACGGCTGTC CAAGGAGCTG CAGGCGGCGC AGGCCCGGCT GGGCGCGGAC ATGGAGGACG
 TGTGCGGCCG CCTGGTGCAG TACCGCGGCG AGGTGCAGGC CATGCTCGGC CAGAGCACCG
 AGGAGCTGCG GGTGCGCCTC GCCTCCCACC TGCGCAAGCT GCGTAAGCGG CTCCTCCGCG
 ATGCCGATGA CCTGCAGAAG
 Y
 GCCTGGCAGT GTACCAGGCC GGGGCCCGCG AGGGCGCCGA GCGCGGCCTC AGCGCCATCC
 GCGAGCGCCT GGGGCCCCTG GTGGAACAGG GCCGCGTGCG GGCCGCCACT GTGGGCTCCC
 TGGCCGGCCA GCCGCTACAG GAGCGGGCCC AGGCCTGGGG CGAGCGGCTG CGCGCGCGGA
 TGGAGGAGAT GGGCAGCCGG ACCCGCGACC GCCTGGACGA GGTGAAGGAG CAGGTGGCGG
 AGGTGCGCGC CAAGCTGGAG GAGCAGGCCC AGCAGATACG CCTGCAGGCC GAGGCCTTCC
 AGGCCCGCCT CAAGAGCTGG TTCGAGCCCC TGGTGGAAGA CATGCAGCGC CAGTGGGCCG
 GGCTGGTGGA GAAGGTGCAG GCTGCCGTGG GCACCAGCGC CGCCCCTGTG CCCAGCGACA
 ATCACTGAAC GCCGAAGCCT GCAGCCATGC GACCCCACGC CACCCCGTGC CTCCTGCCTC
 CGCGCAGCCT GCAGCGGGAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011109 AI796947 Hs.169401 NM_000041
dbSNP Blast Analysis
UniGene Cluster ID
515465
3D structure mapping
NP_000032  
OMIM
107741.0001
107741.0015

  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.
SourceC/C
C/T
T/T
HWPC
T
ss107936539HapMap-HCBAsian 84IG0.809523820.19047619 1.000000000.904761910.09523810
HapMap-JPTAsian 168IG0.892857130.10714286 1.000000000.946428600.05357143
HapMap-YRISub-Saharan African 220IG0.809090910.19090909 0.654721000.904545430.09545454
HAPMAP-ASW 96IG0.770833310.208333330.020833330.751830000.875000000.12500000
HAPMAP-CHBAsian 82IG0.756097560.24390244 0.751830000.878048780.12195122
HAPMAP-CHD 168IG0.833333310.16666667 0.751830000.916666690.08333334
HAPMAP-GIH 174IG0.908045950.080459770.011494250.099721000.948275860.05172414
HAPMAP-LWK 172IG0.895348850.10465116 1.000000000.947674390.05232558
HAPMAP-MEX 98IG0.877551020.12244898 1.000000000.938775540.06122449
HAPMAP-TSI 170IG0.917647060.08235294 1.000000000.958823500.04117647
ABECASIS_CLINICAL_PANEL 752AF 0.929521260.07047872
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss12568612American Caucasians 1783AF 0.912999990.08700000
ss1363326191EAS 1008AF 0.899800000.10020000
EUR 1006AF 0.937400040.06260000
AFR 1322AF 0.897099970.10290000
AMR 694AF 0.952399970.04760000
SAS 978AF 0.956000030.04400000
ss15840556CEPH 184AF 0.720000030.27999997
CABG_NORTHAMERICAN 2160GF0.893518510.105555560.000925930.250592000.946296270.05370370
ss168244006CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1693665421ExAc_Aggregated_Populations 97640AF 0.964020910.03597911
ss203765855BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss228156555pilot_1_YRI_low_coverage_panel 118AF 0.906779650.09322034
ss237689597pilot_1_CEU_low_coverage_panel 120AF 0.933333340.06666667
ss243892432pilot_1_CHB+JPT_low_coverage_panel 120AF 0.949999990.05000000
ss870165MDECODE-1 48AF 0.810000000.19000000
MDECODE-2 48AF 0.960000040.04000000
MDECODE-3 48AF 0.960000040.04000000
MDECODE-4 48AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.133+/-0.2210000ALFRED: 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
UNKNOWNUNKNOWNYES

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