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Reference SNP (refSNP) Cluster Report: rs369328                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:80/147
Map to Genome Build:107/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
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:A=0.4720/10432 (ExAC)
G=0.4229/2118 (1000 Genomes)
G=0.4532/4992 (GO-ESP)
HGVS Names
  • NC_000006.11:g.90565242A>G
  • NC_000006.12:g.89855523A>G
  • NM_001137667.1:c.279A>G
  • NM_001137668.1:c.279A>G
  • NM_012115.3:c.279A>G
  • NP_001131139.1:p.Lys93=
  • NP_001131140.1:p.Lys93=
  • NP_036247.1:p.Lys93=
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 ss278916383 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs369328 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
ss469735SC_JCM|AC015708.3_37662fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga07/12/0010/10/0380Genomicunknown
ss3928670SC_JCM|AL353692.14_50968rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat09/25/0110/10/03100Genomicunknown
ss17108306CSHL-HAPMAP|CSHL-HuAA-200402.chr6.NT_007299.12_28385415byFreqrev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat02/17/0405/17/04120Genomicunknown
ss24392897PERLEGEN|afd0344816byFreqrev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat08/10/0409/13/04123Genomicunknown
ss44684498ABI|hCV2744023rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat07/19/0507/19/05126Genomicunknown
ss66778799ILLUMINA|HumanHap300v1.1_rs369328fwd/TC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga11/09/0611/09/06127Genomicunknown
ss67297173ILLUMINA|HumanHap550v1.1_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga11/14/0611/14/06127Genomicunknown
ss67701642ILLUMINA|HumanHap650Yv1.0_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga11/14/0611/14/06127Genomicunknown
ss68983562PERLEGEN|PGP00344816byFreqrev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat01/30/0708/14/07127Genomicunknown
ss70775800ILLUMINA|HumanHap550v3.0__rs369328rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat04/20/0703/30/08130Genomicunknown
ss71351808ILLUMINA|HumanHap650Yv3.0_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga04/23/0704/23/07127Genomicunknown
ss71643435SI_EXO|NT_007299.12_28385415byFreqrev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat05/07/0703/31/08127Genomicunknown
ss75765754ILLUMINA|ILMN_Human_1M_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga08/28/0708/29/07129Genomicunknown
ss79162992ILLUMINA|HumanHap300v2.0_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga04/18/0711/18/07130Genomicunknown
ss83440518KRIBB_YJKIM|KHS462288fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga12/04/0712/05/07130Genomicunknown
ss93514564BCMHGSC_JDW|JWB-2182619rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat02/26/0803/04/08129Genomicunknown
ss1105151351000GENOMES|CEU.trio.12.15.2008_1571245_chr6_90621963rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat12/17/0812/17/08130Genomicunknown
ss1147301301000GENOMES|NA19240_2008_12_16_1408998_chr6_90621963rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat12/18/0812/18/08130Genomicunknown
ss122197764ILLUMINA|HumanCNV370v1_C_rs369328fwd/BC/Tatactctacctgtgtctgtatttctttaaatttttcatcagctctttcatttgtagttga04/14/0904/15/09131Genomicunknown
ss144139435ENSEMBL|ENSSNP13095249rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat06/05/0906/06/09131Genomicunknown
ss154262864ILLUMINA|Human610_Quadv1_B_rs369328-128_T_R_1501756057rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat06/18/0906/20/09131Genomicunknown
ss157281468GMI|GMI_SNP_44750480rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat06/24/0906/25/09131Genomicunknown
ss159439737ILLUMINA|Human660W-Quad_v1_A_rs369328-128_T_R_1501756057rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat07/06/0907/07/09131Genomicunknown
ss160631493ILLUMINA|HumanOmni1-Quad_v1-0_B_rs369328-128_T_R_1501756057rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat08/04/0910/04/09131Genomicunknown
ss163945423COMPLETE_GENOMICS|NA19240_36_chr6_90621963rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat09/29/0909/29/09132Genomicunknown
ss171608095ILLUMINA|HumanCNV370-Quadv3_C_rs369328-128_T_R_1501756057rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat10/01/0910/04/09132Genomicunknown
ss173611090ILLUMINA|Human1M-Duov3_B_rs369328-128_T_R_1501756057rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat10/01/0910/04/09132Genomicunknown
ss202161465BUSHMAN|BUSHMAN-chr6-90621962byFreqrev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat02/16/1009/05/14132Genomicunknown
ss2225325611000GENOMES|pilot_1_YRI_4342244_chr6_90621963rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat04/22/1004/22/10132Genomicunknown
ss2335798811000GENOMES|pilot_1_CEU_3184510_chr6_90621963rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat05/01/1005/01/10132Genomicunknown
ss2406146131000GENOMES|pilot_1_CHB+JPT_2499690_chr6_90621963rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat05/01/1005/01/10132Genomicunknown
ss278916383GMI|GMI_AK_SNP_3236624rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat12/16/1012/16/10137Genomicunknown
ss285459455GMI|GMI_NA10851_SNP_1472228rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat12/17/1012/17/10138Genomicunknown
ss293661191PJP|SNP_3167549_chr6_90621963rev/A/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat01/21/1101/21/11134Genomicunknown
ss480799919ILLUMINA|HumanOmni2.5-4v1_B_rs369328-128_T_R_1732095743rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat01/30/1201/31/12137Genomicunknown
ss480815643ILLUMINA|HumanOmniExpress-12v1_C_rs369328-131_T_R_1857465274rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat01/30/1201/31/12137Genomicunknown
ss481740879ILLUMINA|HumanOmni1-Quad_v1-0_C_rs369328-131_T_R_1865484508rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag01/30/1208/28/15146Genomicunknown
ss485194728ILLUMINA|HumanOmni2.5-4v1_D_rs369328-131_T_R_1857465274rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat01/30/1202/04/12137Genomicunknown
ss491893869CLINSEQ_SNP|SNV-chr6-90621963byFreqrev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/06/1209/05/14137Genomicunknown
ss537183710ILLUMINA|HumanOmni5-4v1_B__rs369328-131_T_R_1894006681rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag06/22/1208/29/15146Genomicunknown
ss559363320TISHKOFF|snp_chr6_90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag11/22/1211/23/12138Genomicunknown
ss653364050SSMP|6_90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag12/14/1202/11/15138Genomicunknown
ss712724705NHLBI-ESP|ESP6500SI-chr6-90565242rev/TA/Gtcaactacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtagagtat02/20/1302/20/13138Genomicunknown
ss778893059ILLUMINA|HumanOmni25Exome-8v1_A_rs369328-131_T_R_1865484508rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag05/30/1307/09/15142Genomicunknown
ss783043418ILLUMINA|HumanOmni2.5-4v1_H_rs369328-131_T_R_1857465274rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag05/30/1307/28/15146Genomicunknown
ss784002554ILLUMINA|HumanOmniExpressExome-8v1_A_rs369328-131_T_R_1894006681rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag05/31/1306/19/15142Genomicunknown
ss832301179ILLUMINA|HumanOmniExpress-12v1_H_rs369328-131_T_R_1857465274rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag09/17/1306/19/15146Genomicunknown
ss834354205ILLUMINA|HumanOmni2.5-8v1_A_rs369328-131_T_R_1865484508rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag09/18/1307/28/15142Genomicunknown
ss974461385JMKIDD_LAB|KhoeSan_Exomes_chr6_90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/06/1403/06/14142Genomicunknown
ss983219477EVA-GONL|EVA-GONL_rs369328rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag04/23/1404/24/14142Genomicunknown
ss1067481493JMKIDD_LAB|HGDP_exomes_chr6_90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag07/09/1407/09/14142Genomicunknown
ss1073822110JMKIDD_LAB|HGDP_WGS_chr6_90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag07/10/1407/11/14142Genomicunknown
ss13212139351000GENOMES|PHASE3_V1_33216423rev/A/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag08/16/1408/16/14142Genomicunknown
ss1430815996DDI|DDI_rs369328rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag11/04/1411/05/14144Genomicunknown
ss1581787065EVA_GENOME_DK|EVA_GENOME_DK_snv_rs369328rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag02/19/1502/20/15144Genomicunknown
ss1616129004EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_90565242_18403563rev/A/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/04/1503/04/15144Genomicunknown
ss1659123037EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_90565242_18403563rev/A/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/04/1503/04/15144Genomicunknown
ss1688429370EVA_EXAC|EVA_EXAC_3466301rev/A/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/04/1503/04/15144Genomicunknown
ss1711137999EVA_MGP|EVA_XIMO_253759rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/09/1503/09/15144Genomicunknown
ss1712880854EVA_SVP|EVA_SVP_575221rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag03/12/1503/12/15144Genomicunknown
ss1752652031ILLUMINA|OmniExpressExome-8v1-1_B_rs369328-131_T_R_1894006681rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag05/27/1506/09/15146Genomicunknown
ss1804554181HAMMER_LAB|Hsieh_3564900rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag07/15/1507/15/15146Genomicunknown
ss1926476034WEILL_CORNELL_DGM|SNV:chr6:90565242rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag10/16/1510/17/15147Genomicunknown
ss1946185518ILLUMINA|HumanCoreExome-12v1-0_C_rs369328-131_T_R_1894006681rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag10/29/1510/29/15147Genomicunknown
ss1958931964ILLUMINA|rs369328-131_T_R_1894006681rev/TA/Gtacaaatgaaagagctgatgaaaaatttaaagaaatacagacacaggtag11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs369328|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=147
 TTGCCACATT TGCTATTTCA TTCAATTTCA TCAACTCAGG AAATAATGCA TACTTGCCAC
 ATTTGCTATT TCATTTAATA CTAAAAGAAA GCTTCCTTAT AAACTGTCAA CACTTTAACA
 TTTTAATTTC TATTTATAAC AACTTTTTTT TTGTTGTTTT ACTTTTTTTA AGTGACAGGG
 TCTTGCTCTG TCACCCAGGC TGGAGTGCAG TGGCACAATC ACAGCTCACT TTAACTTCAA
 ACTCCTGAGT TCAAGAGTCC TCCCTCCTCA GCCTCCTAAG TAGCTAGGAC TACAGGGGGC
 CATACACAGC TAATTGTTTT ATTTTTTTGT AGAGATGAGG TTTCGCTACC TTGCTAAGGC
 TGGGCTCAAA CTCCTGGCCT CAAGCAATCC TCTCACCTCT GCCTCTCAAA GTGCTGAAAT
 TACTGGTGTG AGTCACTGTG CCTGGTAATT TGTTTTTTAT GTTTTCATTT ATACTCTACC
 TGTGTCTGTA TTTCTTTAAA
 Y
 TTTTTCATCA GCTCTTTCAT TTGTAGTTGA CATTTTCCAT ATTCTACTTG CAACTATAAA
 ATATAAAAGG ATTAATTGAA GTATCATTCA AAATTATTTT CTTAGCTTAA CTGGCATTTC
 TAAATATTTT AAATTTTGCA AATCAATTCA CTAAGAAGGC AGATGAGGTC TACTTCTACC
 AGAAAGATAA CCAGTTTTAA AGTTAAGCCT ACAAATAATC TATTTTGTTT AGTTTCACAT
 TCAACATCCA AACCTTAAAA TTCAAATATA GTAGAAAGAA ATAGAAGTCT GAGGACATTT
 TATGCAACAT ATAATTTAAC TTTGTACATA TCATGAAAGA AAAAATGTTG TAACACTGTT
 TGCCTGTTGA GGTTTTATAT TCAGATGCTT AAATTGGGTC AAGCAAAATT ATAACTAAAT
 TTAGACAAGT ATTCAGAAAA CATTCCTTTA AAAAACAGGT CTGAAGACAA AAACTGACTT
 AAATATTTGT TAGTCTAAGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007299.12 AC015708 AL158813 AL353692
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs369328 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
ss1321213935EAS 1008AF 0.30059999 0.69940001
EUR 1006AF 0.54170001 0.45829999
AFR 1322AF 0.35020000 0.64980000
AMR 694AF 0.33139998 0.66859996
SAS 978AF 0.59000003 0.41000000
ss144139435ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss163945423YRISub-Saharan African 2IG 1.00000000 0.50000000 0.50000000
ss1688429370ExAc_Aggregated_Populations 69644AF 0.39160588 0.60839415
ss17108306CHMJAsian 74IG0.24324325 0.027027030.72972971 0.243243250.027027030.72972971
ss202161465BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
BANTU 2IG 1.00000000 0.50000000 0.50000000
ss222532561pilot_1_YRI_low_coverage_panel 118AF 0.27118644 0.72881359
ss233579881pilot_1_CEU_low_coverage_panel 120AF 0.56666666 0.43333334
ss240614613pilot_1_CHB+JPT_low_coverage_panel 120AF 0.23333333 0.76666665
ss24392897AFD_EUR_PANELEuropean 48IG 0.208333330.54166669 0.250000000.751830000.47916666 0.52083331
AFD_AFR_PANELAfrican American 44IG 0.136363640.31818181 0.545454560.273322000.29545453 0.70454544
AFD_CHN_PANELAsian 48IG 0.125000000.37500000 0.500000000.583882000.31250000 0.68750000
ss491893869CSAgilent 567GF 0.285000000.46500000 0.250000000.250592000.51749998 0.48249999
ss71643435HapMap-CEUEuropean 226IG 0.283185840.47787610 0.238938050.654721000.52212387 0.47787610
HapMap-HCBAsian 86IG 0.093023260.51162791 0.395348850.438578000.34883720 0.65116280
HapMap-JPTAsian 172IG 0.058139540.33720931 0.604651150.751830000.22674419 0.77325583
HapMap-YRISub-Saharan African 226IG 0.106194690.40707964 0.486725660.654721000.30973452 0.69026548
HAPMAP-ASW 98IG 0.102040820.42857143 0.469387771.000000000.31632653 0.68367344
HAPMAP-CHBAsian 82IG 0.097560970.41463414 0.487804891.000000000.30487806 0.69512194
HAPMAP-CHD 170IG 0.117647060.40000001 0.482352940.479500000.31764707 0.68235296
HAPMAP-GIH 176IG 0.340909090.55681819 0.102272730.099721000.61931819 0.38068181
HAPMAP-LWK 180IG 0.066666670.35555556 0.577777800.751830000.24444444 0.75555557
HAPMAP-MEX 100IG 0.140000000.41999999 0.440000000.654721000.34999999 0.64999998
HAPMAP-MKK 284IG 0.126760560.43661973 0.436619730.751830000.34507042 0.65492958
HAPMAP-TSI 176IG 0.318181810.44318181 0.238636360.317310000.53977275 0.46022728

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.498+/-0.02812661055160ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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