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Reference SNP (refSNP) Cluster Report: rs75057928                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:C:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:G=0.0221/1929 (ExAC)
G=0.0697/263 (1000 Genomes)
G=0.0245/259 (GO-ESP)
G=0.0368/4615 (TOPMED)
HGVS Names
  • CM000685.2:g.18587935C>G
  • CM000685.2:g.18587935C>T
  • NC_000023.10:g.18606055C>G
  • NC_000023.10:g.18606055C>T
  • NC_000023.11:g.18587935C>G
  • NC_000023.11:g.18587935C>T
  • NG_008475.1:g.167331C>G
  • NG_008475.1:g.167331C>T
  • NM_001037343.1:c.555-19C>G
  • NM_001037343.1:c.555-19C>T
  • NM_001323289.1:c.555-19C>G
  • NM_001323289.1:c.555-19C>T
  • NM_003159.2:c.555-19C>G
  • NM_003159.2:c.555-19C>T
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 ss283705433 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs75057928 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
ss157371043GMI|GMI_SNP_219627974fwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg06/24/0906/25/09131Genomicunknown
ss283705433GMI|GMI_AK_SNP_8025876fwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg12/16/1012/16/10137Genomicunknown
ss3413408661000GENOMES|20100804_snps_92570_chrX_18606055fwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg03/23/1103/23/11134Genomicunknown
ss4911985201000GENOMES|20110521_exome_706318_chrX_18606055fwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg02/10/1202/22/12137Genomicunknown
ss535319416ILLUMINA|HumanOmni5-4v1_B_kgp30973236-0_B_R_1891671538fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc06/22/1208/28/15146Genomicunknown
ss538296535CHWRETT|CDKL5: c.555-19C>Gfwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg08/08/1208/08/12137Genomicunknown
ss566785217TISHKOFF|snp_chrX_18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc11/22/1211/23/12138Genomicunknown
ss662716913SSMP|X_18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc12/14/1202/14/15138Genomicunknown
ss713644558NHLBI-ESP|ESP6500SI-chrX-18606055fwd/C/Gacattatattttttcagttgccaaaataattcttcctttatttttcagcgctccctatgg02/20/1302/20/13138Genomicunknown
ss974513932JMKIDD_LAB|KhoeSan_Exomes_chrX_18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/06/1403/06/14142Genomicunknown
ss1067609185JMKIDD_LAB|HGDP_exomes_chrX_18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc07/09/1407/09/14142Genomicunknown
ss1082815175JMKIDD_LAB|HGDP_WGS_chrX_18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc07/10/1407/12/14142Genomicunknown
ss15536866031000GENOMES|PHASE3_chrX_460427byFreqfwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc08/16/1408/07/15144Genomicunknown
ss1640415785EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18606055_45113653fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/04/1503/04/15144Genomicunknown
ss1683409818EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18606055_45113653fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/04/1503/04/15144Genomicunknown
ss1694468492EVA_EXAC|EVA_EXAC_9966415fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/04/1503/04/15144Genomicunknown
ss1694468493EVA_EXAC|EVA_EXAC_9966416fwd/C/Tatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/04/1503/04/15144Genomicunknown
ss1711578186EVA_MGP|EVA_XIMO_693946fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc03/09/1503/09/15144Genomicunknown
ss1939182601WEILL_CORNELL_DGM|SNV:chrX:18606055fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc10/16/1510/19/15147Genomicunknown
ss1958178787ILLUMINA|rs75057928-138_B_R_2270930650fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc11/13/1511/13/15147Genomicunknown
ss2316003823HUMAN_LONGEVITY|HLI-X-18587935-C-Gfwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc11/18/1611/18/16150Genomicunknown
ss2710097084GRF|rs75057928fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc02/13/1702/13/17151Genomicunknown
ss2745323362GNOMAD|exomes_rs75057928fwd/C/G/Tatattttttcagttgccaaaataattcttcctttatttttcagcgctccc05/17/1705/17/17151Genomicunknown
ss2746082227GNOMAD|coding_rs75057928fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc05/17/1705/17/17151Genomicunknown
ss2976934001GNOMAD|rs75057928fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc05/23/1705/23/17151Genomicunknown
ss3022993135ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs75057928-138_B_R_2270930650fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc06/28/1706/28/17151Genomicunknown
ss3606384241TOPMED|TOPMed_freeze_5?chrX:18,587,935fwd/C/Gatattttttcagttgccaaaataattcttcctttatttttcagcgctccc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs75057928|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 AGTCATCAGA AACTGTGATG CTGAGCGATG GAAGGTTAAA TAATATTCAG TGTTAAGGAA
 ACACATAAAT CAGTACATAG TAAATTTTAA TAGACTGAAC TCATAAAATG GATAAGATGT
 ATCTTTTTGA CATTTAGAGA GCTAAAGGAT AATTATTTGT CTTAGAAAAT ACAATTATTT
 GGAAGCATTT CATTCCCCAA GTGAGGTGTT ACTTGCCAGA TATGTATACT GTATTAGGGT
 TTATTAAGCC GTTCACATTT AAGATACATA TCTATTTATG TGAATAAATT TCAAATTAGT
 GTATACTAAC TAAATTGTTA TTAAATTGAT GGCTTTATTA GCATAGGTTT ATTCACTTGT
 GTTCTGATGA TTTGCTTTTC AGCCTTCTTT TCACATGGAA CTTTTTAATT TCATAAATAT
 ACAAGTGTGC TGCACATAAA TTTGTTCACA ATAATTTGGA AATTATCAAA ACATTATATT
 TTTTCAGTTG CCAAAATAAT
 B
 TCTTCCTTTA TTTTTCAGCG CTCCCTATGG AAAGTCCGTG GACATGTGGT CGGTGGGCTG
 TATTCTTGGG GAGCTTAGCG ATGGACAGCC TTTATTTCCT GGAGAAAGTG AAATTGACCA
 ACTTTTTACT ATTCAGAAGG TGCTAGGACC ACTTCCATCT GAGCAGATGA AGCTTTTCTA
 CAGTAATCCT CGCTTCCATG GGCTCCGGGT AAGAGGTTTT GCTGAAACCC AAAATGGAAT
 CAATACTGCA GTATTTGAGT CATTGTTCAT TGCACAATGG AATGCTAAAC TATCCTTTGA
 ATACTATTTC TTTTCCCATT ACAGTGTTTA TAATCCCTAT TATAATATTT TATTTCCGAA
 TTTTTTAATA GTACTTGTGG ATTTAAAAAG TGGTTAGAAT TCAAATTCTA ATCTTTTTTC
 TAATTTTTAA GTTCCAGTTT TTCAAAATCT TTTTTAGTGT ATACATTTTT ACACACTAAA
 CTTTGGTTAT CTTATATTGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
G
T
ss1553686603EAS 1008AF 0.859099980.14090000
EUR 1006AF 1.00000000
AFR 1322AF 0.954599980.04540000
AMR 694AF 0.981300000.01870000
SAS 978AF 0.950900020.04910000
ss1694468492ExAc_Aggregated_Populations121406AF 0.968164680.03183533
ss1694468493ExAc_Aggregated_Populations117543AF 0.99998301 0.00001702

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.064+/-0.1670000

  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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