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Reference SNP (refSNP) Cluster Report: rs35478150                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:A:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.0398/2395 (ExAC)
C=0.0167/63 (1000 Genomes)
C=0.0331/348 (GO-ESP)
C=0.0312/3922 (TOPMED)
HGVS Names
  • CM000685.2:g.18619962A>C
  • NC_000023.10:g.18638082A>C
  • NC_000023.11:g.18619962A>C
  • NG_008475.1:g.199358A>C
  • NM_001037343.1:c.2372A>C
  • NM_001323289.1:c.2372A>C
  • NM_003159.2:c.2372A>C
  • NP_001032420.1:p.Gln791Pro
  • NP_001310218.1:p.Gln791Pro
  • NP_003150.1:p.Gln791Pro
  • XP_005274641.1:p.Gln791Pro
  • XP_005274642.1:p.Gln774Pro
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 ss342550474 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35478150 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
ss48534345CANCER-GENOME|NC_000023.8_18397739byFreqfwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata10/20/0509/05/14126Genomicunknown
ss69258576PERLEGEN|PGP14524237byFreqfwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata01/30/0703/31/08127Genomicunknown
ss74969636ILLUMINA|ILMN_Human_1M_rs35478150fwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata08/28/0708/29/07129Genomicunknown
ss160627270ILLUMINA|HumanOmni1-Quad_v1-0_B_rs35478150-128_B_R_1513938095rev/BG/Ttatatagaaactggtcatctacttactgttgagatttcttctttttctttttcattgacc08/04/0910/04/09131Genomicunknown
ss173601220ILLUMINA|Human1M-Duov3_B_rs35478150-127_B_R_1513938095rev/BG/Ttatatagaaactggtcatctacttactgttgagatttcttctttttctttttcattgacc10/01/0910/04/09132Genomicunknown
ss3413409521000GENOMES|20100804_snps_92656_chrX_18638082fwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata03/23/1103/23/11134Genomicunknown
ss342550474NHLBI-ESP|ESP2500-chrX-18638082byFreqfwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata03/25/1109/05/14134Genomicunknown
ss480791494ILLUMINA|HumanOmni2.5-4v1_B_rs35478150-128_B_R_1513938095fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct01/30/1210/29/16137Genomicunknown
ss480807188ILLUMINA|HumanOmniExpress-12v1_C_rs35478150-131_B_R_1857455003fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct01/30/1210/27/16137Genomicunknown
ss481723837ILLUMINA|HumanOmni1-Quad_v1-0_C_rs35478150-131_B_R_1865352458fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct01/30/1208/28/15146Genomicunknown
ss485190533ILLUMINA|HumanOmni2.5-4v1_D_rs35478150-131_B_R_1857455003fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct01/30/1210/28/16137Genomicunknown
ss4911985261000GENOMES|20110521_exome_706324_chrX_18638082fwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata02/10/1202/22/12137Genomicunknown
ss491575368EXOME_CHIP|nonsyn_291594_chr_X_18638082fwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata03/05/1203/06/12137Genomicunknown
ss491949126CLINSEQ_SNP|SNV-chrX-18548003fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/06/1203/13/12137Genomicunknown
ss535305835ILLUMINA|HumanOmni5-4v1_B_kgp30805851-0_B_R_1892668606fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct06/22/1208/28/15146Genomicunknown
ss538296841CHWRETT|CDKL5: c.2372A>Cfwd/TA/Cggtcaatgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttctatata08/08/1208/08/12137Genomicunknown
ss780765118ILLUMINA|HumanOmni25Exome-8v1_A_exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/30/1307/09/15142Genomicunknown
ss783041317ILLUMINA|HumanOmni2.5-4v1_H_rs35478150-131_B_R_1857455003fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/30/1307/28/15146Genomicunknown
ss783444410ILLUMINA|HumanOmniExpressExome-8v1_A_exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/31/1306/19/15142Genomicunknown
ss784000560ILLUMINA|HumanOmniExpressExome-8v1_A_rs35478150-131_B_R_1894889654fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/31/1306/19/15146Genomicunknown
ss832299063ILLUMINA|HumanOmniExpress-12v1_H_rs35478150-131_B_R_1857455003fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct09/17/1306/19/15146Genomicunknown
ss833976224ILLUMINA|HumanOmni2.5-8v1_A_rs35478150-131_B_R_1865352458fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct09/18/1307/28/15146Genomicunknown
ss15536871921000GENOMES|PHASE3_chrX_461016byFreqfwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct08/16/1408/07/15144Genomicunknown
ss1583339780EVA_GENOME_DK|EVA_GENOME_DK_snv_rs35478150fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct02/19/1502/20/15144Genomicunknown
ss1640416067EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18638082_45113961fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/04/1503/04/15144Genomicunknown
ss1683410100EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18638082_45113961fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/04/1503/04/15144Genomicunknown
ss1694468742EVA_EXAC|EVA_EXAC_9966684fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/04/1503/04/15144Genomicunknown
ss1711578190EVA_MGP|EVA_XIMO_693950fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/09/1503/09/15144Genomicunknown
ss1752802264ILLUMINA|OmniExpressExome-8v1-1_B_exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/27/1506/09/15146Genomicunknown
ss1752802265ILLUMINA|OmniExpressExome-8v1-1_B_rs35478150-131_B_R_1894889654fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/27/1506/09/15146Genomicunknown
ss1917716307ILLUMINA|HumanExome-12v1-1_B_exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct10/16/1510/16/15147Genomicunknown
ss1939182690WEILL_CORNELL_DGM|SNV:chrX:18638082fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct10/16/1510/19/15147Genomicunknown
ss1945969518ILLUMINA|HumanCoreExome-12v1-0_C_exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct10/29/1510/29/15147Genomicunknown
ss1958178819ILLUMINA|exm1630299-0_T_F_1922066615fwd/TA/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct11/13/1511/13/15147Genomicunknown
ss2316005003HUMAN_LONGEVITY|HLI-X-18619962-A-Cfwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct11/18/1611/18/16150Genomicunknown
ss2634943045ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs35478150-131_B_R_1894889fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct02/02/1702/02/17151Genomicunknown
ss2711178530ILLUMINA|Consortium-OncoArray_15047405_A_exm1630299-0_T_F_1922066615fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct03/22/1703/22/17151Genomicunknown
ss2745323728GNOMAD|exomes_rs35478150fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/17/1705/17/17151Genomicunknown
ss2746082314GNOMAD|coding_rs35478150fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/17/1705/17/17151Genomicunknown
ss2976935522GNOMAD|rs35478150fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/23/1705/23/17151Genomicunknown
ss2985481519AFFY|Axiom_PsorMich_Affx-34746266fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/24/1705/24/17151Genomicunknown
ss3019695014SWEGEN|NC_000023.10:g.18638082A>Cfwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct05/30/1705/30/17151Genomicunknown
ss3022993153ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1630299-0_T_F_1922066615fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct06/28/1706/28/17151Genomicunknown
ss3352913086CSHL|rs35478150fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct10/02/1710/02/17151Genomicunknown
ss3606387982TOPMED|TOPMed_freeze_5?chrX:18,619,962fwd/A/Catgaaaaagaaaaagaagaaatctcaacagtaagtagatgaccagtttct10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35478150|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 CTCCTGTGCT TTTTTAGAGG CTCTTTACCC AAGTGTTTGA TTCTTCCCGG CTATAGGAAC
 CTAGTGTCAT GCATTTTCAG TCCTTATTAT ATTTGTCACA CAATGGCAAG AAAATGATTG
 AAAAATCAAT ATGATAAAAA TGTCTTCTCA TTTAGGAAAA GTCCTGAAAA TATTAGTCAT
 TCAGAGCAAC TCAAGGAAAA AGAGAAGCAA GGATTTTTCA GGTCAATGAA AAAGAAAAAG
 AAGAAATCTC
 M
 AACAGTAAGT AGATGACCAG TTTCTATATA TAATAACATG TTTCTGCATT ATTCAATGGA
 TACTTTACAC TTTGCACTTG GCAATCAAAG TTGATTGTTT TCTTATTGAG ACTTGACATT
 TTTGCACTGT ATTATGTCTC TTTCTGAAAT TCTTTACAAC TATCCTCTCA ACAGAGCCTT
 TTCTACATTC AACAGAATCT CCAGGAATAG AAGAAATTTA ATTTGGATGA CAGAGAACAC
 TTTAAGCCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023.8
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/C
C/C
HWPA
C
ss1553687192EAS 1008AF 1.00000000
EUR 1006AF 0.956299960.04370000
AFR 1322AF 1.00000000
AMR 694AF 0.981300000.01870000
SAS 978AF 0.993900000.00610000
ss1694468742ExAc_Aggregated_Populations121100AF 0.967952130.03204789
ss342550474ESP_Cohort_Populations 2752GF0.952034890.039244190.008720930.001000000.971656980.02834302
ss48534345HapMap-JPTAsian 170IG0.988235290.01176471 1.000000000.994117620.00588235
HAPMAP-GIH 170IG0.98823529 0.011764710.001000000.988235290.01176471

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.076+/-0.1800000

  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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