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Reference SNP (refSNP) Cluster Report: rs57670668                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0096/1160 (ExAC)
C=0.0050/25 (1000 Genomes)
C=0.0122/159 (GO-ESP)
C=0.0097/1224 (TOPMED)
HGVS Names
  • CM000681.2:g.41116576G>A
  • CM000681.2:g.41116576G>C
  • NC_000019.10:g.41116576G>A
  • NC_000019.10:g.41116576G>C
  • NC_000019.9:g.41622481G>C
  • NG_007930.1:g.7129G>A
  • NG_007930.1:g.7129G>C
  • NM_000774.4:c.293G>A
  • NM_000774.4:c.293G>C
  • NP_000765.2:p.Arg98His
  • NP_000765.2:p.Arg98Pro
  • NR_135528.1:n.365G>A
  • NR_135528.1:n.365G>C
  • XP_005258629.1:p.Arg98Pro
  • XP_011524853.1:p.Arg98His
  • XP_011524853.1:p.Arg98Pro
  • XP_011524854.1:p.Arg98His
  • XP_011524854.1:p.Arg98Pro
  • XP_011524855.1:p.Arg173His
  • XP_011524855.1:p.Arg173Pro
  • XP_011524856.1:p.Arg34His
  • XP_011524856.1:p.Arg34Pro
  • XP_011524857.1:p.Arg173His
  • XP_011524857.1:p.Arg173Pro
  • XP_016881873.1:p.Arg173His
  • XP_016881873.1:p.Arg173Pro
  • XP_016881874.1:p.Arg173His
  • XP_016881874.1:p.Arg173Pro
  • XP_016881875.1:p.Arg173His
  • XP_016881875.1:p.Arg173Pro
  • XP_016881876.1:p.Arg173His
  • XP_016881876.1:p.Arg173Pro
  • XR_243905.1:n.390G>C
  • XR_243906.1:n.393G>C
  • XR_430190.3:n.696G>A
  • XR_430190.3:n.696G>C
  • XR_935755.1:n.508G>A
  • XR_935755.1:n.508G>C
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 ss95212627 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs57670668 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
ss84157968PHARMGKB_AB_DME|PS206198_PA149588360_301fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac12/06/0712/10/07129Genomicunknown
ss86251957CORNELL|hCV25653908fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac01/21/0809/29/10130Genomicunknown
ss95212627APPLERA_GI|hCV25653908fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac11/30/0503/13/08130Genomicunknown
ss105434262AFFY_DM3_1|DMET3B11458fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac09/03/0809/03/08130Genomicunknown
ss105440186SNP500CANCER|CYP2F1-03byFreqfwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac09/05/0809/05/14130Genomicunknown
ss2376808571000GENOMES|pilot_1_CEU_7285486_chr19_46314321fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac05/01/1005/01/10132Genomicunknown
ss342499049NHLBI-ESP|ESP2500-chr19-41622481byFreqfwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac03/25/1109/05/14134Genomicunknown
ss4911596971000GENOMES|20110521_exome_667495_chr19_41622481fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac02/10/1202/22/12137Genomicunknown
ss491547704EXOME_CHIP|nonsyn_263930_chr_19_41622481fwd/C/Gtggtggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaactttac03/05/1203/06/12137Genomicunknown
ss491767807CLINSEQ_SNP|SNV-chr19-46314321byFreqfwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/06/1209/05/14137Genomicunknown
ss535642179ILLUMINA|HumanOmni5-4v1_B_kgp4845820-0_T_R_1905883216fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac06/22/1208/29/15146Genomicunknown
ss994310204EVA-GONL|EVA-GONL_rs57670668fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac04/23/1405/01/14142Genomicunknown
ss1067589720JMKIDD_LAB|HGDP_exomes_chr19_41622481fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac07/09/1407/09/14142Genomicunknown
ss1081910944JMKIDD_LAB|HGDP_WGS_chr19_41622481fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac07/10/1407/12/14142Genomicunknown
ss13632060081000GENOMES|PHASE3_V1_76931154fwd/A/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac08/16/1408/16/14142Genomicunknown
ss13632060091000GENOMES|PHASE3_V1_76931155fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac08/16/1408/16/14142Genomicunknown
ss1584117718EVA_FINRISK|EVA_FINRISK_rs57670668fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac02/27/1502/27/15144Genomicunknown
ss1637988856EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_41622481_42433102fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/04/1503/04/15144Genomicunknown
ss1680982889EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_41622481_42433102fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/04/1503/04/15144Genomicunknown
ss1693618783EVA_EXAC|EVA_EXAC_9053719fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/04/1503/04/15144Genomicunknown
ss1693618784EVA_EXAC|EVA_EXAC_9053720fwd/A/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/04/1503/04/15144Genomicunknown
ss1698363884EVA_DECODE|EVA_DECODE_19_46314321_304689_rs57670668fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/02/1503/05/15144Genomicunknown
ss1711514172EVA_MGP|EVA_XIMO_629932fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/09/1503/09/15144Genomicunknown
ss1946536083ILLUMINA|HumanCoreExome-12v1-0_C_kgp4845820-0_T_R_1905883216fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac10/29/1510/29/15147Genomicunknown
ss1959865388ILLUMINA|kgp4845820-0_T_R_1905883216fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac11/13/1511/13/15147Genomicunknown
ss2029681317JJLAB|SNP10183872fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac08/29/1608/31/16149Genomicunknown
ss2225835397HUMAN_LONGEVITY|HLI-19-41116576-G-A,Cfwd/A/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac11/18/1611/18/16150Genomicunknown
ss2391567360TOPMED|19_41622481_G/Afwd/A/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac11/19/1611/19/16150Genomicunknown
ss2391567361TOPMED|19_41622481_G/Cfwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac11/19/1611/19/16150Genomicunknown
ss2633541213ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp4845820-0_T_R_190588321fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac02/02/1702/02/17151Genomicunknown
ss2710883079ILLUMINA|Consortium-OncoArray_15047405_A_kgp4845820-0_T_R_1905883216fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac03/22/1703/22/17151Genomicunknown
ss2744020656GNOMAD|exomes_rs57670668fwd/A/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/17/1705/17/17151Genomicunknown
ss2750196061GNOMAD|coding_rs57670668fwd/A/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/17/1705/17/17151Genomicunknown
ss2962986422GNOMAD|rs57670668fwd/A/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/23/1705/23/17151Genomicunknown
ss2985142543AFFY|Axiom_PsorMich_Affx-15966703fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/24/1705/24/17151Genomicunknown
ss2985775102AFFY|Axiom_Smokesc1_Affx-15966703fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/24/1705/24/17151Genomicunknown
ss3017490543SWEGEN|NC_000019.9:g.41622481G>Cfwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/30/1705/30/17151Genomicunknown
ss3017490544SWEGEN|NC_000019.9:g.41622481G>Afwd/A/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac05/30/1705/30/17151Genomicunknown
ss3021907152ILLUMINA|MEGA_Consortium_v2_15070954_A2_kgp4845820-0_T_R_1905883216fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac06/28/1706/28/17151Genomicunknown
ss3293559300TOPMED|TOPMed_freeze_5?chr19:41,116,576-01fwd/A/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac10/02/1710/02/17151Genomicunknown
ss3293559301TOPMED|TOPMed_freeze_5?chr19:41,116,576-02fwd/C/Ggaccagggagaggagtttagtggcccggtgactaccctgcctttttcaac10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs57670668|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 CTGCCTCCGG GACCCAGACC CCTCTCAATC CTGGGAAACC TGCTGCTGCT TTGCTCCCAA
 GACATGCTGA CTTCTCTCAC TAAGGTGCAA GGCCCTTAGC TTGGGTGATG GTGGAAGGAT
 AAGGAGGAGG GGTCCCATGG CCACAGGCCC CCCTGTAACT TCTGTCTTCC TACCCTCAGC
 TGAGCAAGGA GTATGGCTCC ATGTACACAG TGCACCTGGG ACCCAGGCGG GTGGTGGTCC
 TCAGCGGGTA CCAAGCTGTG AAGGAGGCCC TGGTGGACCA GGGAGAGGAG TTTAGTGGCC
 V
 CGGTGACTAC CCTGCCTTTT TCAACTTTAC CAAGGGCAAT GGTAAGCCTC GTCCTTGTCT
 CCTCCGCTCT CGGCCTTTTC CATATTGAGG GAGGGGGTGA GGGTGAGAGA CTGTTGTCTC
 AATCTTGTTG ACACTCAGGG CTGCTGACAT CACTGATGAC ACCAAATGCA ATGCAGCGAG
 GCAGTGTTGG TCTATGGCAA ATTCTCTCCC ACCTTCCTCA CCTCCAGATC CCACCACTTT
 CCTGAATTGT ACTCTTGCAC CACTCCTCAT CTCCATCCAA CCCCAACCCC ATTGTCATCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000019
dbSNP Blast Analysis
3D structure mapping
NP_000765  

  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.
SourceC/C
C/G
G/G
HWPA
C
G
ss105440186P1 204GF 0.009803920.990196051.00000000 0.004901960.99509805
CAUC1 62GF 1.00000000 1.00000000
AFR1 48GF 1.00000000 1.00000000
HISP1 46GF 1.00000000 1.00000000
PAC1 48GF 0.041666670.958333311.00000000 0.020833330.97916669
P2 410GF 0.004878050.995121961.00000000 0.002439020.99756098
CAUC2 120GF 0.016666670.983333351.00000000 0.008333330.99166667
AFR2 112GF 1.00000000 1.00000000
P3 556GF 0.014388490.985611501.00000000 0.007194240.99280578
CAUC3 132GF 0.030303030.969697001.00000000 0.015151520.98484850
AFR3 150GF 0.013333330.986666681.00000000 0.006666670.99333334
HISP3 96GF 1.00000000 1.00000000
PAC3 178GF 0.011235960.988764051.00000000 0.005617980.99438202
ASI2 178GF 1.00000000 1.00000000
ss1693618783ExAc_Aggregated_Populations121376AF 0.009557080.99044293
ss1693618784ExAc_Aggregated_Populations120252AF 0.00029937 0.99970061
ss237680857pilot_1_CEU_low_coverage_panel 120AF 0.016666670.98333335
ss342499049ESP_Cohort_Populations 4540GF 0.019823790.980176210.65472100 0.009911890.99008811
ss491767807CSAgilent 1263GF 0.021000000.979000031.00000000 0.010500000.98949999
ss84157968PA149588361 356AF 0.002808990.99719101
ss86251957AGI_ASP_populationmultiple 78IG 0.025641030.974358981.00000000 0.012820510.98717946

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.020+/-0.0970000

  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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