Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs328                 ** With non-pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/137
Map to Genome Build:37.4
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMed
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Clinical Channel:link to VariationViewerlink to OMIM
Clinical Significance:With non-pathogenic allele [detail]
MAF/MinorAlleleCount:G=0.096/210
MAF Source:1000 Genomes
HGVS Names
NC_000008.10:g.19819724C>G
NG_008855.1:g.28143C>G
NM_000237.2:c.1421C>G
NP_000228.1:p.Ser474Ter
NT_167187.1:g.7677870C>G
Links , Linkout
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer) back to top

  GeneView back to top

  Submitter records for this RefSNP Cluster back to top
The submission ss279724045 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs328 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
ss329DEBNICK|lp09040fwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga11/24/9812/23/0336Genomicunknown
ss3173350WIAF-CSNP|WIAF-11037byFreqfwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga06/19/0104/07/0498cDNAunknown
ss4921960YUSUKE|IMS-JST089900byFreqfwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga07/24/0210/10/03108Genomicunknown
ss10467174BCM_SSAHASNP|chr8.NT_030737.7_3540948byFreqfwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga06/29/0305/16/04116Genomicunknown
ss16343000IMCJ-GDT|IMCJ-LPL_10-cgfwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga01/16/0401/23/04120Genomicunknown
ss24648907PERLEGEN|afd1879961byFreqfwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga08/10/0409/13/04123Genomicunknown
ss48420139APPLERA_GI|hCV901792byFreqrev/C/Gtcagctttagcccagaatgctcaccagcctacttcttattcagagacttgtcatggcatt09/28/0511/03/06126Genomicunknown
ss69043156PERLEGEN|PGP01879961byFreqfwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga01/30/0708/14/07127Genomicunknown
ss71648660SI_EXO|NT_030737.9_7664652byFreqfwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga05/07/0703/31/08127Genomicunknown
ss74808885AFFY|SNP_M-181501fwd/TC/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga08/09/0708/09/07128Genomicunknown
ss181341878PAGE_STUDY|PAGE_WHI_rs328fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga12/04/0912/04/09132Genomicunknown
ss181834342PAGE_STUDY|PAGE_CALiCo_rs328fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga12/14/0912/23/10132Genomicunknown
ss181835906PAGE_STUDY|PAGE_EAGLE_rs328fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaag12/14/0912/23/10132Genomicunknown
ss182258758PAGE_STUDY|PAGE_MEC-HI_rs328fwd/C/Gcatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaa12/16/0912/23/10132Genomicunknown
ss198888197BUSHMAN|BUSHMAN-chr8-19864003fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga02/16/1003/06/10132Genomicunknown
ss2173214271000GENOMES|pilot_3_CEU_1478_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2173976331000GENOMES|pilot_3_CHB_1429_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2173991741000GENOMES|pilot_3_CHD_1459_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2174072331000GENOMES|pilot_3_JPT_1236_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2174182961000GENOMES|pilot_3_TSI_1363_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2174190271000GENOMES|pilot_3_LWK_2256_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2174224291000GENOMES|pilot_3_YRI_2158_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/09/1004/09/10132Genomicunknown
ss2235856701000GENOMES|pilot_1_YRI_5395353_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga04/22/1004/22/10132Genomicunknown
ss2343525041000GENOMES|pilot_1_CEU_3957133_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga05/01/1005/01/10132Genomicunknown
ss2412273191000GENOMES|pilot_1_CHB+JPT_3112396_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga05/01/1005/01/10132Genomicunknown
ss244238714OMICIA|2010_April_001_033_LPL_609708_0014fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga05/27/1005/28/10132Genomicunknown
ss244294501ILLUMINA|CVDSNP55v1_A_rs328fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga06/10/1006/10/10132Genomicunknown
ss252841585OMIM-CURATED-RECORDS|16465fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga08/10/1008/10/10132Genomicunknown
ss254171515BL|SNP40403_8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga08/19/1008/19/10134Genomicunknown
ss279724045GMI|GMI_AK_SNP_4044298fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga12/16/1012/16/10137Genomicunknown
ss342253806NHLBI-ESP|ESP2500-chr8-19819724fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga03/25/1103/26/11134Genomicunknown
ss410878568ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_19864004fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga06/07/1106/07/11135Genomicunknown
ss484193264ILLUMINA|HumanOmni2.5-4v1_D_kgp9004347-0_T_F_1822230007fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga01/30/1202/03/12137Genomicunknown
ss485584695ILLUMINA|HumanOmni2.5-4v1_B_SNP8-19864004-0_T_F_1621293178fwd/C/Gaatgccatgacaagtctctgaataagaagtannnnngtgagcattctgggctaaagctga01/30/1202/05/12137Genomicunknown
ss4909609261000GENOMES|20110521_exome_468724_chr8_19819724fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga02/10/1202/21/12137Genomicunknown
ss491410902EXOME_CHIP|stopgl_127128_chr_8_19819724fwd/C/Gaatgccatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaagctga03/05/1203/05/12137Genomicunknown
ss491921994CLINSEQ_SNP|SNV-chr8-19864004fwd/C/Gcatgacaagtctctgaataagaagtaggctggtgagcattctgggctaaa03/06/1203/13/12137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs328|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=137
 AGAAAAAGAT CTTGGGGATG GAAATGTTAT AAAGAATCTT TTTTACACTA GCAATGTCTA
 GCTGAAGGCA GATGCCCTAA TTCCTTAATG CAGATGCTAA GAGATGGCAG AGTTGATCTT
 TTATCATCTC TTGGTGAAAG CCCAGTAACA TAAGACTGCT CTAGGCTGTC TGCATGCCTG
 TCTATCTAAA TTAACTAGCT TGGTTGCTGA ACACCAGGTT AGGCTCTCAA ATTACCCTCT
 GATTCTGATG TGGCCTGAGT GTGACAGTTA ATTATTGGGA ATATCAAAAC AATTACCCAG
 CATGATCATG TATTATTTAA ACAGTCCTGA CAGAACTGTA CCTTTGTGAA CAGTGCTTTT
 GATTGTTCTA CATGGCATAT TCACATCCAT TTTCTTCCAC AGGGTGATCT TCTGTTCTAG
 GGAGAAAGTG TCTCATTTGC AGAAAGGAAA GGCACCTGCG GTATTTGTGA AATGCCATGA
 CAAGTCTCTG AATAAGAAGT
 S
 AGGCTGGTGA GCATTCTGGG CTAAAGCTGA CTGGGCATCC TGAGCTTGCA CCCTAAGGGA
 GGCAGCTTCA TGCATTCCTC TTCACCCCAT CACCAGCAGC TTGCCCTGAC TCATGTGATC
 AAAGCATTCA ATCAGTCTTT CTTAGTCCTT CTGCATATGT ATCAAATGGG TCTGTTGCTT
 TATGCAATAC TTCCTCTTTT TTTCTTTCTC CTCTTGTTTC TCCCAGCCCG GACCTTCAAC
 CCAGGCACAC ATTTTAGGTT TTATTTTACT CCTTGAACTA CCCCTGAATC TTCACTTCTC
 CTTTTTTCTC TACTGCGTCT CTGCTGACTT TGCAGATGCC ATCTGCAGAG CATGTAACAC
 AAGTTTAGTA GTTGCCGTTC TGGCTGTGGG TGCAGCTCTT CCCAGGATGT ATTCAGGGAA
 GTAAAAAGAT CTCACTGCAT CACCTGCAGC CACATAGTTC TTGATTCTCC AAGTGCCAGC
 ATACTCCGGG ACACACAGCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030737.9
dbSNP Blast Analysis
UniGene Cluster ID
180878
OMIM
609708.0014

  Population Diversity back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC
C/C
C/G
G
G/G
HWPC
G
ss10467174CEPH 184AF 0.640 0.360
CHMJAsian 74IG 0.905 0.095 0.905 0.095
ss198888197BUSHMAN_POP 2IG 1.000 0.500 0.500
ss217321427pilot_3_CEU_exon_capture_panel 178AF 0.899 0.101
ss217397633pilot_3_CHB_exon_capture_panel 218AF 0.867 0.133
ss217399174pilot_3_CHD_exon_capture_panel 210AF 0.871 0.129
ss217407233pilot_3_JPT_exon_capture_panel 208AF 0.894 0.106
ss217418296pilot_3_TSI_exon_capture_panel 130AF 0.869 0.131
ss217419027pilot_3_LWK_exon_capture_panel 216AF 0.958 0.042
ss217422429pilot_3_YRI_exon_capture_panel 224AF 0.955 0.045
ss223585670pilot_1_YRI_low_coverage_panel 118AF 0.975 0.025
ss234352504pilot_1_CEU_low_coverage_panel 120AF 0.875 0.125
ss241227319pilot_1_CHB+JPT_low_coverage_panel 120AF 0.883 0.117
ss24648907AFD_EUR_PANELEuropean 44IG 0.545 0.364 0.091 0.752 0.727 0.273
AFD_AFR_PANELAfrican American 42IG 0.905 0.095 1.000 0.952 0.048
AFD_CHN_PANELAsian 46IG 0.870 0.130 1.000 0.935 0.065
ss3173350WIAF-CSNP-MITOGPOP5multiple 112IG 0.964 0.036 1.000 0.982 0.018
ss342253806ESP_Cohort_Populations 4550GF 0.848 0.147 0.005 0.403 0.922 0.078
ss48420139AGI_ASP populationmultiple 70IG 0.914 0.086 1.000 0.957 0.043
ss491921994CSAgilent 1169GF 0.824 0.166 0.010 0.907 0.093
ss4921960JBIC-allele 1458AF 0.860 0.140
ss69043156HapMap-CEUEuropean 120IG 0.767 0.217 0.017 1.000 0.875 0.125
HapMap-HCBAsian 90IG 0.822 0.178 1.000 0.911 0.089
HapMap-JPTAsian 90IG 0.733 0.244 0.022 1.000 0.856 0.144
HapMap-YRISub-Saharan African 120IG 0.933 0.067 1.000 0.967 0.033
ss71648660HapMap-CEUEuropean 120IG 0.767 0.217 0.017 1.000 0.875 0.125
HapMap-HCBAsian 90IG 0.822 0.178 1.000 0.911 0.089
HapMap-JPTAsian 88IG 0.727 0.250 0.023 1.000 0.852 0.148
HapMap-YRISub-Saharan African 120IG 0.933 0.067 1.000 0.967 0.033
ENSEMBL_Watson 2IG 1.000 1.000
ENSEMBL_Venter 2IG 1.000 1.000
Concordant GenotypeTotal SampleCC/CC/GGG/G
ss19888819711
ss246489077051122
ss317335056542
ss4842013936332
ss69043156269216512
ss71648660526217512
RefSNP Genotype SummaryTotal IndividualCC/CC/GGG/G
rs3286763206536
Discordant Genotypes:
Indiviudal
SampleID		SubSNP(ss)GenotypePopulation
Handle		Submitter
Population		Submitter
SampleID		SampleID
Alias		Submission
Batch		NCBI
ProbeID
399ss24648907C/GPERLEGENAFD_EUR_PANELNA1083071_IND_CHR_8
399ss69043156C/CCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01chr8-HapMap-CEU
399ss71648660C/CCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01r27_ch8_CEU_illumina:golden_gate_1.0.0
Genotype data submitted for691 samples from676 individualsIndividual with multiple genotypes submission:276

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNYESYES

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement