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Reference SNP (refSNP) Cluster Report: rs229541                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/151
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 (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4465/2236 (1000 Genomes)
G=0.4870/61152 (TOPMED)
HGVS Names
  • CM000684.2:g.37195278G>A
  • NC_000022.10:g.37591318G>A
  • NC_000022.11:g.37195278G>A
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 ss11004773 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs229541 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
ss297067KWOK|OVLP-000621-301353rev/TA/Gcagttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt06/30/0010/10/0379Genomic97 %
ss1244481KWOK|OVLP-000804-467043fwd/BC/Taaaggcccctcttagtgaagggcaaagatgttatcagaaattgggttagaggcccaactg09/02/0010/10/0387Genomic97 %
ss2048836KWOK|OVLP-000925-423174fwd/BC/Taaaggcccctcttagtgaagggcaaagatgttatcagaaattgggttagaggcccaactg10/06/0010/10/0387Genomic97 %
ss4046893SC_JCM|Z82188.2_43709rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt09/26/0110/10/03117Genomicunknown
ss7997626SC_SNP|NT_011520.8_16806103rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt04/15/0310/10/03126Genomicunknown
ss11004773BCM_SSAHASNP|chr22.NT_011520.9_16900372byFreqrev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt06/30/0310/25/06116Genomicunknown
ss13359319SC_SNP|NT_011520.9_16900372rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt10/22/0310/31/03120Genomicunknown
ss24601554PERLEGEN|afd4247540byFreqrev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt08/10/0409/13/04123Genomicunknown
ss44295462ABI|hCV3289739byFreqrev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt07/18/0511/03/06126Genomicunknown
ss65825378KRIBB_YJKIM|KHS1163byFreqfwd/BC/Taaaggcccctcttagtgaagggcaaagatgttatcagaaattgggttagaggcccaaatg10/17/0612/16/06127Genomicunknown
ss66247957AFFY|SNP_A-4277652byFreqrev/TA/Gacccaatttctgataacatctttgcccttcac10/27/0608/14/07127Genomicunknown
ss69272697PERLEGEN|PGP04247540byFreqrev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt01/30/0708/14/07127Genomicunknown
ss76393338AFFY|AFFY_6_1M_SNP_A-4277652byFreqrev/TA/Gacccaatttctgataacatctttgcccttcac08/28/0703/07/10129Genomicunknown
ss78253798HGSV|Cor12878_SNV_20070510.chr22_35915818rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt10/17/0710/18/07129Genomicunknown
ss81374188HGSV|Cor18507_SNV_20070510.chr22_35915818rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt11/26/0711/29/07130Genomicunknown
ss81411192KRIBB_YJKIM|KHS37377fwd/BC/Taaaggcccctcttagtgaagggcaaagatgttatcagaaattgggttagaggcccaaatg11/30/0711/30/07130Genomicunknown
ss83050777HGSV|Cor19240_SNV_20070510.chr22_35915818rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt11/30/0712/04/07130Genomicunknown
ss96125470HUMANGENOME_JCVI|1103691041143rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt03/25/0803/25/08130Genomicunknown
ss103863563BGI|BGI_rs229541rev/TA/Gcakttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt06/07/0806/18/09131Genomicunknown
ss1126481451000GENOMES|CEU.trio.12.15.2008_3809277_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt12/17/0812/17/08130Genomicunknown
ss1142123871000GENOMES|NA19240_2008_12_16_3444077_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt12/18/0812/18/08130Genomicunknown
ss117405776ILLUMINA-UK|NA18507_000025599_NCBI36.1_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt01/19/0901/19/09130Genomic99 %
ss143438470ENSEMBL|ENSSNP9705830rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt12/08/0810/17/09131Genomicunknown
ss157182232GMI|GMI_SNP_24565907rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt06/24/0906/25/09131Genomicunknown
ss160531814ILLUMINA|HumanOmni1-Quad_v1-0_B_rs229541-128_T_R_1569355638rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt08/04/0910/03/09131Genomicunknown
ss167949173COMPLETE_GENOMICS|NA07022_36_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt09/30/0909/30/09132Genomicunknown
ss169259117COMPLETE_GENOMICS|NA19240_36_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt10/01/0910/01/09132Genomicunknown
ss171979225COMPLETE_GENOMICS|NA20431_36_chr22_35921264rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt10/01/0910/01/09132Genomicunknown
ss173461391AFFY|GenomeWideSNP_5_SNP_A-4277652rev/TA/Gacccaatttctgataacatctttgcccttcac10/01/0910/03/09132Genomicunknown
ss204089947BUSHMAN|BUSHMAN-chr22-35921263byFreqrev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt02/16/1009/05/14132Genomicunknown
ss208827298BCM-HGSC-SUB|BCM_CMT_1011-3282733rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt03/15/1003/20/10132Genomicunknown
ss2286834951000GENOMES|pilot_1_YRI_10493178_chr22_35921264rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt04/22/1004/22/10132Genomicunknown
ss2380721171000GENOMES|pilot_1_CEU_7676746_chr22_35921264rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt05/01/1005/01/10132Genomicunknown
ss2441893731000GENOMES|pilot_1_CHB+JPT_6074450_chr22_35921264rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt05/01/1005/01/10132Genomicunknown
ss283638296GMI|GMI_AK_SNP_7958717rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt12/16/1012/16/10137Genomicunknown
ss287570450GMI|GMI_NA10851_SNP_3583250rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt12/17/1012/17/10138Genomicunknown
ss292762222PJP|SNP_2268580_chr22_35921264rev/A/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt01/21/1101/21/11134Genomicunknown
ss481341726ILLUMINA|HumanOmni1-Quad_v1-0_C_rs229541-131_T_R_1858974493rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg01/30/1208/28/15146Genomicunknown
ss491571364EXOME_CHIP|.GWAS._287590_chr_22_37591318rev/TA/Gcatttgggcctctaacccaatttctgataacatctttgcccttcactaagaggggccttt03/05/1203/06/12137Genomicunknown
ss566645866TISHKOFF|snp_chr22_37591318rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/22/1211/23/12138Genomicunknown
ss662575577SSMP|22_37591318rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg12/14/1202/14/15138Genomicunknown
ss780683297ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/30/1307/10/15146Genomicunknown
ss783356687ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/31/1306/19/15146Genomicunknown
ss995360334EVA-GONL|EVA-GONL_rs229541rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg04/23/1405/01/14142Genomicunknown
ss1082664774JMKIDD_LAB|HGDP_WGS_chr22_37591318rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg07/10/1407/12/14142Genomicunknown
ss13671965581000GENOMES|PHASE3_V1_81089617rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg08/16/1408/16/14142Genomicunknown
ss1429259210DDI|DDI_rs229541rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/04/1411/04/14144Genomicunknown
ss1579756283EVA_GENOME_DK|EVA_GENOME_DK_snv_rs229541rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/19/1502/20/15144Genomicunknown
ss1640012001EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_22_37591318_44668251rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg03/04/1503/04/15144Genomicunknown
ss1683006034EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_22_37591318_44668251rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg03/04/1503/04/15144Genomicunknown
ss1699430473EVA_DECODE|EVA_DECODE_22_35921264_162767_rs229541rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg03/02/1503/05/15144Genomicunknown
ss1713741905EVA_SVP|EVA_SVP_1435984rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg03/12/1503/12/15144Genomicunknown
ss1752421245ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/27/1506/09/15146Genomicunknown
ss1809792709HAMMER_LAB|Hsieh_8824769rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg07/15/1507/16/15146Genomicunknown
ss1917955733ILLUMINA|HumanExome-12v1-1_B_exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg10/16/1510/16/15147Genomicunknown
ss1938926895WEILL_CORNELL_DGM|SNV:chr22:37591318rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg10/16/1510/19/15147Genomicunknown
ss1946590942ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg10/29/1510/29/15147Genomicunknown
ss1959980252ILLUMINA|exm-rs229541-131_T_R_1990490212rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/13/1511/13/15147Genomicunknown
ss1969274409GENOMED|rs229541rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/16/1602/16/16147Genomicunknown
ss2030235684JJLAB|SNP10738239rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg08/29/1608/31/16149Genomicunknown
ss2094923669ILLUMINA|Immuno_BeadChip_11419691_B_imm_22_35921264-1_B_R_1670113475rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg09/27/1609/27/16150Genomicunknown
ss2095123254ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_22_35921264-1_B_R_2310701974rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg09/27/1609/27/16150Genomicunknown
ss2095123255ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs229541-138_T_R_2264358797rev/TA/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg09/27/1609/27/16150Genomicunknown
ss2158854895USC_VALOUEV|NC_000022.10:g.37591318G>Arev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/17/1611/17/16150Genomicunknown
ss2247394955HUMAN_LONGEVITY|HLI-22-37195278-G-Arev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/18/1611/18/16150Genomicunknown
ss2414359368TOPMED|22_37591318_G/Arev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg11/19/1611/19/16150Genomicunknown
ss2629615148SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6846054rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg01/06/1701/06/17151Genomicunknown
ss2633879556ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs229541-131_T_R_191530262rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/02/1702/02/17151Genomicunknown
ss2633879557ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs229541-131_T_R_21302rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/02/1702/02/17151Genomicunknown
ss2635112202ILLUMINA|Cancer_BeadChip_11459870_A_rs229541-128_T_R_1660354832rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/02/1702/02/17151Genomicunknown
ss2704606878GRF|rs229541rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg02/13/1702/13/17151Genomicunknown
ss2974471334GNOMAD|rs229541rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/23/1705/23/17151Genomicunknown
ss2985238838AFFY|Axiom_PsorMich_Affx-19549490rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/24/1705/24/17151Genomicunknown
ss2985855252AFFY|Axiom_Smokesc1_Affx-19549490rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/24/1705/24/17151Genomicunknown
ss3019317258SWEGEN|NC_000022.10:g.37591318G>Arev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg05/30/1705/30/17151Genomicunknown
ss3022187064ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs229541-131_T_R_1990490212rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg06/28/1706/28/17151Genomicunknown
ss3028955134BIOINF_KMB_FNS_UNIBA|22.37195278G>Arev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg07/05/1707/05/17151Genomicunknown
ss3352841909CSHL|rs229541rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg10/02/1710/02/17151Genomicunknown
ss3377375752TOPMED|TOPMed_freeze_5?chr22:37,195,278rev/A/Ggggcctctaacccaatttctgataacatctttgcccttcactaagagggg10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs229541|allelePos=1030|totalLen=7641|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTGAGGCAGG ACCCTGCCAG ACCCAGAGGC AAACAGGCTG CCCTCCTGTG AACTTGTTGG
 GGGTCATTTC CACAAGGGAA TAGTTCTAGA AGACCAGGGT GAGTCAGTAA CAATGGCAGA
 ATTCCAGTCA GAGGAAGAAG ACTTTGGTGT AGCTGGGGCT GGAGCATAGA GGAGCGACTT
 GGCTGCCGCC CTGGCCCTGt gtcagaggtg ttagaaccag agccactcca tcttgagtag
 gagctgggta aaatagggct gagacctgct gggctgcatt cccaggaggt taggcatttt
 tagtcacagg atgagatggg agtcggcagg actggtatca taagatacag gtcataaata
 ccctgctgat aaacaggatg cgctaaacaa gccggccaaa acacaccaaa tccaagatgg
 tgatgaaagt gatctctggt catcctcact gctcattata cactaattat aatgcattag
 catgctaaaa gacactccca ccagcaccat gacaatttac aaatgccatg gcaatgtcca
 gaaattacct tatacggtct aaaagcggga ggaactctca gttctgggga aatctcccct
 ttcttggaaa actgattaat aatccaccct ttgtttagca tataatcaag aaataaccat
 aaaaacagcc aaccagcagc gctcaggggt ggtctgtcta tggagtagcc attcttttgt
 ttctttactt ctctgtaaac ttgctttgac ttcactctgt ggactcacct caaattcttt
 cttgtgcgag tccaggaacc ctctctttgg gtctggattg ggaccccttt ccagtaccaT
 tttttctagt gaaccacgaa gggacgatac cagaaaacac cctcaaccca aaggaaatag
 actacagccc caattggctg actttgggta agtgagggat attttattct gggtaatgta
 tggatttggg ttaggttccc tcctcagaaa tagggggtta aaggcccctc ttagtgaagg
 gcaaagatg
 Y
 ttatcagaaa ttgggttaga ggcccaaatg aagaaggttg gagtccttag ggagttagag
 gtccccctcg gtcatgtccc ttggtaagga gaaatggatt aggcactatg ggatattaac
 cactattctc ttttcattaa tctgccttgc actgtttgct gacagctgtg agtgacagga
 ttaggcacgt acaggatcat gggacatggg gagctttctt ctccccaaag ggggaaactt
 tagagatgat gagattgctg gaaaagatac ctttgctact gacaagcgac ctcctgaact
 attgatccag tgtcaatgga atggaggcct ctggcctccc tgagctcctc agcttctcca
 ccccccggca ggcaatgctt ttcttcctct ctcctttctc ttttctatct tttctgtcac
 tcagggtgac tctccactct tccatcttgc ccagctacca tatgttgaaa cttctggttg
 gagggcattc cacctcactt ggagtggatc aaagatgaca agggccatcg ggagcaagtt
 tgagccttgc caggttgatg ttgggcactg agtggggtgg ctagtctcct ggaatggaaa
 atgttaattt ggtttcccca tgcagcctgt tggacagcat cttacaaaat taagaggctt
 ttgcctgtgg ttccatgaaa tggaaaaaga cgattttctt ttgtaacgtg tcttggcccc
 catagcaatg gcacagtaag cagggccatc aaagccacag agagaaaggg aacccagaaa
 cctggcatgc tggcaaaggg taagaatttc ttaccagtca ggcttctggc ctctcttggt
 gcaaactggt tgaataaatg ataaaaatca ctgtttgtct ctcctgcaag gaatttgatt
 aatacgaaaa agaattcatg ggggctagtc ttaagcttta gaaaatctgg tgtacttagt
 gctatgaatt tttctttctg tgtcagtctg tcataaaaag aggtactata ggatagaatg
 tgggcctagg acccatataa gcccattatt caagttggcc cagcaaactc gtcagttaca
 aacttggcgg caggtccctg aaacaaaaac tagatgaggt ttctgtcttg tctttttttt
 tacgtccttg caagtttaac cttgtgaccg tgtgggagta ctttctctta gtctccacca
 tccagacgac aggaagctgg ggcttcatgt gatagcccta aaaattgtcc tgagcagtta
 aaagcctttg cacgcttgaa attggcttct ctgggctcct tccaggaagg aaaacagaaa
 ctgtctagtg ccgtggctca gtagctaagg ctttgtctct tcacactggg gacccaggtt
 caattcccac cttagggaat gagtcctttc tggtttaata tctatgtgac ctttgccatt
 tattcatttt cttctccata aacagcttct gacttctcgt ttgaattttc ctttctctgc
 actacccttg gcgattctag atctcgtaaa aactgcttat cacctctttg aaaatacctt
 gtatacctgg gttaagtgct aaccttagtt aaggcttacc ggtttcacct gggaggttac
 tgttagtgaa gttcaaaagc cagaaatatt ggctgtttgt cccggctaga gtctggtaac
 aagatttggt taaaagtcag cttaattaaa aatggatatc caagctatac atatatttaa
 aaggccttta tgcttttttt tctcttcttg gctcttattt ttctgaaaaa ttttttcttt
 tcagtcgact taattttttt ccccattttg tcttcttgcc actcttgatg ccccacctga
 gaggacctaa gataaatttt aatagcctgg gacttctcag gaaaaaagga ggtgctacag
 accctgtttt gggagaaacc tctgttctcc tcatggacac ccccaggaat tgaaagcaga
 tagaccactc tcaaaatcta aggctctgct ctgttttgta ttgtgttatc tgacagtttt
 gacttttggg gatatcagaa attactttgc attttaagag agcttttagc cttgctatgt
 aataactagg tggggaatac acttttaggg atggctaatg gcagttttgt ggggatactt
 ggctcttcgc acctttggat cagaaaagca tgctcttggc cacctagaaa gtatggaagt
 gtccccaccc tccattgaaa gataagactg ccatggggga tgggctgatt ccctctcttt
 gggatccagg atccaatata aaaatgaaac ccttaatttt ggggttctgt tttgccttcc
 agctgtgcct gcttattagg ccttagaaac tgcaggcttt cctggccctg tttcttgaag
 ggctccaccc tgaagtcagt aatccaatta agaaacttaa aaattggcaa atgaaaaatc
 ttacaactac tggatcttct gtctgtgtat ttatatatgt tgtgtgtgtg atgttgatat
 atgaaagagc tctgattaat tggcttaaaa ataataagta cttaaatcaa atattttgtc
 agaaaaatag aaacattaat gccttttggt tcacatgact ttaataatct ttgggaaata
 gagacagttt taaagattat cagtaacatt aaaatatctt caaactttag acatttggtc
 taaattaggc aggtcagatt ttaggtttgc taaatgcctc aaggtcataa actgcatcat
 tgacttttga aaattgccca gcttacctgc tttggggcca ttagattcta gataaggcct
 ggggacttgt cgagttagcc atgcccccag ctatgctgga aagagtcaga ccttatctgc
 acttctgcag ataaggctgt cctaggctcc acacctggaa tataagtaaa actgcttact
 taccaggttt ttcaccaaaa aataaaagtt gctaagagtt aacatcgtaa tatgttatat
 gtaattgaga ctactagaga aacagtttta tatgcaaggt gtgtaaggaa aattgaatat
 gcttttggta agaagattat aagaaagcat gggaatgtgg actttccccc tactttagag
 ggttaaagga ttgtttcaag ttaggtagga taaagctgaa ggtttgagca agttatggaa
 ggtttgtgaa agattaatct tgtaaaagaa attctgtgtg aacttattgg cttaaattaa
 agggatatta ttcagttttt ccataaatta aatatggaat aaaagtataa caaggttttc
 ttagagcact ggtatactct ttaacaagaa aattgtaaag agctataaaa ggtttatgag
 actcttacct catggtcaaa cattaaaatt ggatagagtt gtctataagg ctttattatg
 aattgggttt gacattaata gtacacaaat gcaaaggtaa aatttggctt tctctcttga
 acaagttttt catgtaatat tgaaaaataa ttaaagattt ttgtttgcct tttgaataag
 ctatagaaaa aagaaaggaa cgaaaagaga cagttttttt tggaaagcta agtcttccct
 ttatcggtga gtaaaggttt ttgcccttaa aaacatcttt gagttatcat tttggccaaa
 taaatgactt atggtgacct gggatgctat tttgtagtat caaatgtttt aaatttttga
 tatttgacaa actttccaaa atcaaattct aagttatgcc tttttctaac ctgattagtc
 ctttagatat taggtcccct aaagtccaaa aatgacatat ttggcttatt tggtacatta
 aaataataca ggaagcattg tcaaatatga aattgtgttt ggctttcttt gggctgtgtt
 tatataaata tgttattggt atgtgttcca aaattatggg aaactcctat aattctgata
 tgaacattat caatactaat ggacattatc aataataatt ataattgtta tgatgttaat
 ttattatatg ccacagaggt atccacattt cctagtcaat gatattaatt ctttaaccat
 gactgctcta agtctttctg tcatccatag acaattgttg tcttgctttt attctcttca
 aaaggtggtt tataatcagc tataggactc tgatgagtac tcttaaatgc agagaaaaag
 aaaacatcat ccaagactct tggaaaacta acacatatat atcaagcaaa acaggaatta
 attgcataga ctgaactaat aaaagactga aataatcttt tatgactttt tgcttaaaat
 gttgttgatc tttctgtttt gtttttcaga gtcaagaaac ccccccttct tgagctattt
 acagctttta acaattgagt aaagtacgct ccggtaagga ttataaaaca aagttttgtc
 caaaaacaaa atttggaata tgtttttttc tctttacctg atttctgcag aatttggaaa
 ctatttgtga gtgttcttaa cttacggcaa tatagttatt tgcataagtg cagtaagaat
 ctgtttttcc ttctttcttc tttttttttt tttgtaacag gacacaattg gagaaactgg
 ttatttaaca agggtttgac tcgagtggca tgctttcaaa tataaacaga cttctttaag
 gaattaaagt tgactaatag agccaataaa agcctcttgg aaaaactggt cttgtacctt
 gtgtatgaag tccctgtata gggttcctga cctgtggtaa gtaaagaatg taactttctg
 acaggcctgg gagccccgag ttatctcggg acctcaagag gagaggaatt tatctaactc
 atacaggttc ttgcaggcat aggtaaatcc atggctgggc tcaaagcttt aaaacatcta
 atctaagata ccttatgaaa caaagccaat tttaaaagga gcctgtatgg caaataatta
 tacttgctgc actttatgca aataatgaag ccaagtataa taagactaaa gcttattttg
 caaataaatt ggtcctacca tgatttgttt ttaataaaaa atgggagact ggagagagaa
 aaacggtgtt tcaaaaaata tggtacacct gtcatagatt ctagtctcat ccattgtttt
 tgagtttttt gtctgcaatt tagactgacc ttgcttcttt ctgtgaacca aacagtcatc
 tcttgactgc ttctcgtcag aaacaagagg gatggataac ataaaaatct ggatcagtat
 ctaattctga gcatgtattg gaatcgtcta gcaactccgt atcagctcat CTAgcaattc
 ctgtgactaa gaatgcctaa cctcctggga atgcagccca gtaggtctca gcctcatttt
 acccgataag tcacaggcat tcttgcccag ttcatggaaa gccttcttat ttggattact
 tgggataatt ttacttattt tactttgctg ttgtagaata tattgctgct atactctttg
 tgtaagaatg caagataagc ttactcagtg cttccttaaa ttgaacacat taatcttcca
 gatatcacct tttgttagga ctcagagtta caaatgactc tgaacacacc aacattttct
 tactcagttc ctctctgcac caaacccaag agactctaat agttaggcag gaatatcatc
 gcctctattc agcctgaaga agttacagaa gatggatctt catgcctcta caacccttaa
 gattaaacgt tccctcgtaa aagagagtag ggaaatatgt cagaggtgtt caaaataggg
 caactccatc ttgaataggg gctgggtaaa atgaggctaa gacctgccag gctgcattcc
 caggaggtca ggcatttgta gtcacaggaa gggataggaa gttggcagga ctggtatcac
 aagatacagg tcatcaagac cctgctgaga aacagtatgc ggtaaacaaa ccagccaaaa
 cctgccaaat ctaagattgc aatgaaagtg acatctggtc atccttattg ctcattgtat
 gttaattaaa atgtgttagc ttgctaaaac acacttctac cagcaccaag acagcctaca
 aataccatgg caatgtccgg aaattaccct atattgtcta aaagggggag gaagcctcag
 tttcaggaaa ttcccacccc tttcctggaa aactcatgaa taatccaccc ctgtttagca
 taggatcaag aaataactat aaaaatagcc aactagcagt gcttgggggt gctctgccta
 tggagtagcc attcttttgt ttctttgctt ctctaataaa cttgctttca ctttgctctg
 tggacttacc ccaaattctt tctggtgcaa gatccaagaa ttctctcttg gggtctgatc
 agtacccctc tctggtaaca CTTGCATGAT ACCTGAGGAG GTCAGCCTGG TCATTCACCC
 AACAAACATG GGTTAAGCCC TCCCATGTGC CTGGCACAAA GGGGGCTGAG GACTGCAGTT
 CTGGAACACC TAGGCTCTGA GAGGCGACGC GACTGTGGTA GCAGGGCCAG GATTCTAGCC
 TGTGCCTGGA G

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
Z82188 ABBA01055461 AC008048 Z82188.2
dbSNP Blast Analysis
OMIM
222100

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs229541 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC
C/C
C/T
N
T
T/T
HWPC
N
T
ss11004773HapMap-CEUEuropean 224IG 0.339285700.48214287 0.178571431.000000000.58035713 0.41964287
HapMap-HCBAsian 86IG 0.32558140 0.674418630.527089000.16279070 0.83720928
HapMap-JPTAsian 170IG 0.235294120.28235295 0.482352940.001000000.37647060 0.62352943
HapMap-YRISub-Saharan African 226IG 0.061946900.33628318 0.601769920.654721000.23008850 0.76991153
CHMJAsian 74IG0.28378379 0.013513510.70270270 0.283783790.013513510.70270270
HAPMAP-ASW 96IG 0.125000000.45833334 0.416666661.000000000.35416666 0.64583331
HAPMAP-CHBAsian 82IG 0.024390240.29268292 0.682926831.000000000.17073171 0.82926828
HAPMAP-CHD 162IG 0.049382720.44444445 0.506172840.273322000.27160493 0.72839504
HAPMAP-LWK 178IG 0.157303380.47191012 0.370786521.000000000.39325842 0.60674155
HAPMAP-MEX 96IG 0.250000000.50000000 0.25000000 0.50000000 0.50000000
HAPMAP-MKK 286IG 0.195804190.46853146 0.335664330.654721000.43006992 0.56993008
HAPMAP-TSI 172IG 0.255813960.59302324 0.151162790.099721000.55232561 0.44767442
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss117405776YRI 2IG 1.00000000 0.50000000 0.50000000
ss1367196558EAS 1008AF 0.31250000 0.68750000
EUR 1006AF 0.57550001 0.42449999
AFR 1322AF 0.32380000 0.67619997
AMR 694AF 0.54320002 0.45679998
SAS 978AF 0.54909998 0.45089999
ss143438470ENSEMBL_Venter 2IG 1.00000000 0.50000000 0.50000000
ss167949173CEUEuropean 2IG 1.00000000 0.50000000 0.50000000
ss169259117YRISub-Saharan African 2IG 1.00000000 1.00000000
ss171979225PGP 2IG 1.00000000 0.50000000 0.50000000
ss204089947BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
BANTU 2IG 1.00000000 0.50000000 0.50000000
ss228683495pilot_1_YRI_low_coverage_panel 118AF 0.20338982 0.79661018
ss238072117pilot_1_CEU_low_coverage_panel 120AF 0.62500000 0.37500000
ss244189373pilot_1_CHB+JPT_low_coverage_panel 120AF 0.19166666 0.80833334
ss24601554AFD_EUR_PANELEuropean 48IG 0.333333340.58333331 0.083333340.250592000.62500000 0.37500000
AFD_AFR_PANELAfrican American 46IG 0.086956520.43478259 0.478260871.000000000.30434781 0.69565219
AFD_CHN_PANELAsian 48IG 0.54166669 0.458333340.250592000.27083334 0.72916669
ss44295462AoD_African_American 90AF 0.31999999 0.68000001
AoD_Caucasian 92AF 0.62000000 0.38000000
ss65825378KHP1 174AF 0.080459770.42528737 0.494252861.000000000.29310346 0.70689654
ss66247957HapMap-CEUEuropean 118IG 0.423728820.37288135 0.203389820.099721000.61016947 0.38983050
HapMap-HCBAsian 90IG 0.33333334 0.666666690.479500000.16666667 0.83333331
HapMap-JPTAsian 90IG 0.200000000.33333334 0.466666670.099721000.36666667 0.63333333
HapMap-YRISub-Saharan African 120IG 0.050000000.36666667 0.583333311.000000000.23333333 0.76666665
ss69272697HapMap-CEUEuropean 120IG 0.416666660.36666667 0.216666670.099721000.60000002 0.40000001
HapMap-HCBAsian 90IG 0.33333334 0.666666690.479500000.16666667 0.83333331
HapMap-JPTAsian 90IG 0.222222220.31111112 0.466666670.025056000.37777779 0.62222224
HapMap-YRISub-Saharan African 120IG 0.050000000.36666667 0.583333311.000000000.23333333 0.76666665
ss76393338ICMHP 10IG 0.200000000.20000000 0.60000002 0.30000001 0.69999999
ss96125470J. Craig Venter 2IG 1.00000000 0.50000000 0.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.494+/-0.0530000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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