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Reference SNP (refSNP) Cluster Report: rs10519177                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
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:G=0.3878/1942 (1000 Genomes)
G=0.3580/44958 (TOPMED)
HGVS Names
  • CM000677.2:g.48464998A>G
  • NC_000015.10:g.48464998A>G
  • NC_000015.9:g.48757195A>G
  • NG_008805.2:g.185791T>C
  • NM_000138.4:c.4942+570T>C
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 ss282245353 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10519177 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
ss14921391PERLEGEN|PS03563565byFreqfwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc11/13/0304/07/04119Genomicunknown
ss21246874SSAHASNP|WGSA-200403-chr15.chr15.NT_010194.16_19547752fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc03/19/0403/19/04121Genomicunknown
ss23430464PERLEGEN|afd3563565byFreqfwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc08/10/0409/13/04123Genomicunknown
ss43723126ABI|hCV1132304byFreqfwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc07/18/0511/03/06126Genomicunknown
ss65996462AFFY|SNP_A-1691157rev/BC/Ttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtg10/26/0610/26/06127Genomicunknown
ss66474873AFFY|SNP_A-2278479byFreqrev/BC/Ttggaggaatcacacaatgtttaggaaagagac10/29/0603/31/08127Genomicunknown
ss66763423ILLUMINA|HumanHap300v1.1_rs10519177fwd/BA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc11/09/0611/09/06127Genomicunknown
ss66895229ILLUMINA|HumanHap550v1.1_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc11/14/0611/14/06127Genomicunknown
ss67003788ILLUMINA|HumanHap650Yv1.0_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc11/14/0611/14/06127Genomicunknown
ss70375980ILLUMINA|HumanHap300v2.0_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc04/18/0711/18/07127Genomicunknown
ss70491262ILLUMINA|HumanHap550v3.0__rs10519177rev/BC/Tggttttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtgctctg04/20/0703/30/08130Genomicunknown
ss71015843ILLUMINA|HumanHap650Yv3.0_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc04/23/0704/23/07127Genomicunknown
ss75793603ILLUMINA|ILMN_Human_1M_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc08/28/0708/29/07129Genomicunknown
ss76285354AFFY|AFFY_6_1M_SNP_A-2278479byFreqrev/BC/Ttggaggaatcacacaatgtttaggaaagagac08/28/0703/07/10129Genomicunknown
ss84980073KRIBB_YJKIM|KHS865406fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc12/04/0712/08/07130Genomicunknown
ss96809230HUMANGENOME_JCVI|1103645604885fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc03/27/0803/27/08130Genomicunknown
ss1141377581000GENOMES|NA19240_2008_12_16_2834717_chr15_46544487fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc12/18/0812/18/08130Genomicunknown
ss118217094ILLUMINA-UK|NA18507_000032513_NCBI36.1_chr15_46544487fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc01/20/0901/21/09130Genomic99 %
ss121366576ILLUMINA|HumanCNV370v1_C_rs10519177fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc04/14/0904/14/09131Genomicunknown
ss132399153ENSEMBL|ENSSNP1104005fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc12/08/0810/15/09131Genomicunknown
ss152789431ILLUMINA|Human610_Quadv1_B_rs10519177-127_B_R_1501607518rev/BC/Tggttttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtgctctg06/18/0906/19/09131Genomicunknown
ss156509707GMI|GMI_SNP_70990298fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc06/24/0906/25/09131Genomicunknown
ss159136058ILLUMINA|Human660W-Quad_v1_A_rs10519177-128_B_R_1501607518rev/BC/Tggttttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtgctctg07/06/0907/06/09131Genomicunknown
ss169379239COMPLETE_GENOMICS|NA19240_36_chr15_46544487fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc10/01/0910/01/09132Genomicunknown
ss169553644ILLUMINA|HumanCNV370-Quadv3_C_rs10519177-127_B_R_1501607518rev/BC/Tggttttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtgctctg10/01/0910/02/09132Genomicunknown
ss170355491ILLUMINA|Human1M-Duov3_B_rs10519177-127_B_R_1501607518rev/BC/Tggttttcatctacatggaggaatcacacaatgtttaggaaagagacctccttgtgctctg10/01/0910/01/09132Genomicunknown
ss171059046COMPLETE_GENOMICS|NA20431_36_chr15_46544487fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc10/01/0910/01/09132Genomicunknown
ss173125600AFFY|GenomeWideSNP_5_SNP_A-2278479rev/BC/Ttggaggaatcacacaatgtttaggaaagagac10/01/0910/03/09132Genomicunknown
ss200813419BUSHMAN|BUSHMAN-chr15-46544486fwd/TA/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc02/16/1003/07/10132Genomicunknown
ss2268801181000GENOMES|pilot_1_YRI_8689801_chr15_46544487fwd/A/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc04/22/1004/22/10132Genomicunknown
ss2367689871000GENOMES|pilot_1_CEU_6373616_chr15_46544487fwd/A/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc05/01/1005/01/10132Genomicunknown
ss2431574651000GENOMES|pilot_1_CHB+JPT_5042542_chr15_46544487fwd/A/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc05/01/1005/01/10132Genomicunknown
ss282245353GMI|GMI_AK_SNP_6565752fwd/A/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc12/16/1012/16/10137Genomicunknown
ss291715380PJP|SNP_1221738_chr15_46544487fwd/A/Gcagagcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatgaaaacc01/21/1101/21/11134Genomicunknown
ss536622793ILLUMINA|HumanOmni5-4v1_B_rs10519177-131_B_R_1908658656fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga06/22/1208/29/15146Genomicunknown
ss564466772TISHKOFF|snp_chr15_48757195fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga11/22/1211/23/12138Genomicunknown
ss660186966SSMP|15_48757195fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga12/14/1202/13/15138Genomicunknown
ss825345591ILLUMINA|HumanCNV370v1_C_rs10519177-126_B_R_IFB1136745957:0fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga06/24/1311/21/14144Genomicunknown
ss991761479EVA-GONL|EVA-GONL_rs10519177fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga04/23/1404/30/14142Genomicunknown
ss1080105807JMKIDD_LAB|HGDP_WGS_chr15_48757195fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga07/10/1407/12/14142Genomicunknown
ss13533672671000GENOMES|PHASE3_V1_66695665fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga08/16/1408/16/14142Genomicunknown
ss1427617975DDI|DDI_rs10519177fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga11/04/1411/04/14144Genomicunknown
ss1577599282EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10519177fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga02/19/1502/19/15144Genomicunknown
ss1632944944EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_48757195_36878192fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga03/04/1503/04/15144Genomicunknown
ss1675938977EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_48757195_36878192fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga03/04/1503/04/15144Genomicunknown
ss1695777680EVA_DECODE|EVA_DECODE_15_46544487_192256_rs10519177fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga03/02/1503/04/15144Genomicunknown
ss1713487938EVA_SVP|EVA_SVP_1182305fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga03/12/1503/12/15144Genomicunknown
ss1808192796HAMMER_LAB|Hsieh_7217769fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga07/15/1507/16/15146Genomicunknown
ss1935165313WEILL_CORNELL_DGM|SNV:chr15:48757195fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga10/16/1510/18/15147Genomicunknown
ss1968100423GENOMED|rs10519177fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga02/16/1602/16/16147Genomicunknown
ss2028361751JJLAB|SNP8864306fwd/TA/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga08/29/1608/31/16149Genomicunknown
ss2156762847USC_VALOUEV|NC_000015.9:g.48757195A>Gfwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga11/17/1611/17/16150Genomicunknown
ss2206574917HUMAN_LONGEVITY|HLI-15-48464998-A-Gfwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga11/18/1611/18/16150Genomicunknown
ss2371249812TOPMED|15_48757195_A/Gfwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga11/19/1611/19/16150Genomicunknown
ss2628674828SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5663374fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga01/06/1701/06/17151Genomicunknown
ss2701231796GRF|rs10519177fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga02/13/1702/13/17151Genomicunknown
ss2934626217GNOMAD|rs10519177fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga05/23/1705/23/17151Genomicunknown
ss3013243076SWEGEN|NC_000015.9:g.48757195A>Gfwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga05/30/1705/30/17151Genomicunknown
ss3028003937BIOINF_KMB_FNS_UNIBA|15.48464998A>Gfwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga07/05/1707/05/17151Genomicunknown
ss3226999980TOPMED|TOPMed_freeze_5?chr15:48,464,998fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga10/01/1710/01/17151Genomicunknown
ss3351103970CSHL|rs10519177fwd/A/Gcacaaggaggtctctttcctaaacattgtgtgattcctccatgtagatga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10519177|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGAGCAAGAC TCTGTCTCGA AACAAACAAA CAAAAAACAA AAACAAAAAA GAAAAGGAAC
 TCTTGCCTTC TGACATGAGG CATTATCAAA TATAATAATG AGTCTCCTAA TAAATTAACC
 TATAATATCC TCAAAGGTAG GCAGAGATAG AAATGTGGAG AAATTAAAAT ATCAAATATC
 CCTTAGGAAG ACAAGTACGC TTCTTATGCT CACAAAATCT ATGATAGGGT ATATAGTATC
 CCGAAGCCAT TAACAGCTGG CTTCATGAAT CTGCATTGGT AAGGCAGCAT GGAGCATATT
 TCACATCCTC TCCCCACTTC CAAATGAAGG AGTTGATTCT AATCTTTGTT AACTCCATGG
 GTCTTAGAGC TGTGCCATAT ACACTGTGAT GTTCAACTAA TACTCAATAA GGTTGCCATT
 GTCTGGGTGA CCTAATAAGC CATTAAAGAG CCAGGGGAAT ATTTCTTATG CAGAGCACAA
 GGAGGTCTCT TTCCTAAACA
 R
 TTGTGTGATT CCTCCATGTA GATGAAAACC ATGGCTCATG GCTGAAGTGC TCTGAAACCT
 GTAAGTGGTT AATATTCTCC ACCTTTCCAG TAACACAGGA TGAACAAGGG CCACCACTCA
 TAGCATAAAG CCAAAGGGCC GCCTTCTAGG AGAAGCTTAT TTGAATACAT GAGCACCAAT
 GGTAAGTGGT GAAGGATTAA AAGAAGAGGG CCCAGAACTC CTCCAAATAG AGAAGGAACA
 CTGAAATTGG ACCTGTGCCA TTCATGTAAA AAATGGCTTT TCTGAAGAGC ATGGAAAAAT
 ATTTTGTAAG CATAAATGAG GCTATGGTCC AGCAGAATAA GATTCTGTTT TTCTCAGGAA
 AAGAGGGAGA TTTAGGACTT ACCAGAAATG ACATCACTTG AGTAACATTA GTCCAAATTG
 CCACATGTGA GACATATCTA CCTGGCTATG TTCGTGTTTA GAACATTGTG CTACACTGCT
 AAATTCTATT TTCCTAGTAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010194 ABBA01039137
dbSNP Blast Analysis

  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/G
G/G
HWPA
G
ss118217094YRI 2IG 1.00000000 1.00000000
ss132399153ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss1353367267EAS 1008AF 0.598200020.40180001
EUR 1006AF 0.745500030.25450000
AFR 1322AF 0.370700000.62930000
AMR 694AF 0.721899990.27810001
SAS 978AF 0.738200010.26179999
ss14921391AfAmAfrican American 12IG 0.666666690.33333334 0.333333340.66666669
CaucasianEuropean 22IG1.00000000 1.00000000
AsianAsian 12IG0.166666670.666666690.16666667 0.500000000.50000000
CEPHEuropean 10IG1.00000000 1.00000000
PDpanelGlobal 46IG0.434782590.347826090.217391300.200325000.608695630.39130434
ss169379239YRISub-Saharan African 2IG 1.00000000 1.00000000
ss171059046PGP 2IG 1.00000000 0.500000000.50000000
ss226880118pilot_1_YRI_low_coverage_panel 118AF 0.347457620.65254235
ss23430464AFD_EUR_PANELEuropean 48IG0.583333310.291666660.125000000.200325000.729166690.27083334
AFD_AFR_PANELAfrican American 46IG0.260869560.608695630.130434780.254213000.565217380.43478259
AFD_CHN_PANELAsian 48IG0.291666660.583333310.125000000.342782000.583333310.41666666
ss236768987pilot_1_CEU_low_coverage_panel 120AF 0.741666670.25833333
ss243157465pilot_1_CHB+JPT_low_coverage_panel 120AF 0.566666660.43333334
ss43723126HapMap-CEUEuropean 226IG0.575221240.353982300.070796460.654721000.752212410.24778761
HapMap-HCBAsian 86IG0.418604640.511627910.069767450.294266000.674418630.32558140
HapMap-JPTAsian 172IG0.279069780.465116290.255813960.527089000.511627910.48837209
HapMap-YRISub-Saharan African 226IG0.132743360.469026540.398230081.000000000.367256640.63274336
HAPMAP-ASW 98IG0.102040820.428571430.469387771.000000000.316326530.68367344
HAPMAP-CHBAsian 82IG0.170731710.682926830.146341460.020022000.512195110.48780489
HAPMAP-CHD 170IG0.352941190.458823530.188235300.654721000.582352940.41764706
HAPMAP-GIH 176IG0.545454560.340909090.113636370.150222000.715909060.28409091
HAPMAP-LWK 180IG0.111111110.466666670.422222230.751830000.344444450.65555555
HAPMAP-MEX 100IG0.680000010.220000000.100000000.020022000.790000020.20999999
HAPMAP-MKK 286IG0.328671340.482517480.188811181.000000000.569930080.43006992
HAPMAP-TSI 176IG0.590909060.363636370.045454550.751830000.772727250.22727273
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss66474873HapMap-CEUEuropean 118IG0.525423710.440677970.033898310.250592000.745762710.25423729
HapMap-HCBAsian 90IG0.422222230.488888890.088888890.527089000.666666690.33333334
HapMap-JPTAsian 90IG0.244444440.533333360.222222220.654721000.511111140.48888889
HapMap-YRISub-Saharan African 120IG0.133333340.449999990.416666661.000000000.358333320.64166665
ss76285354ICMHP 6IG0.33333334 0.66666669 0.333333340.66666669
ss96809230J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.475+/-0.1090000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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