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Reference SNP (refSNP) Cluster Report: rs4916176                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1821/912 (1000 Genomes)
C=0.1800/22599 (TOPMED)
HGVS Names
  • CM000663.2:g.248697340A>C
  • NC_000001.10:g.248860641A>C
  • NC_000001.11:g.248697340A>C
  • NR_125950.1:n.146+133A>C
  • XR_247117.1:n.413+133A>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 ss276316178 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4916176 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
ss9850946BCM_SSAHASNP|chr1.NT_077390.2_173132byFreqfwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta06/27/0310/30/04116Genomicunknown
ss11380892WI_SSAHASNP|chr1.NT_077390.2_173132fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta07/03/0310/10/03116Genomicunknown
ss23161881PERLEGEN|afd4288010byFreqfwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta08/10/0409/13/04123Genomicunknown
ss43957562ABI|hCV26825657fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta07/18/0507/18/05126Genomicunknown
ss66364376AFFY|SNP_A-2000891byFreqfwd/TA/Cgtggtctgactctgtaatatgtccaactggct10/29/0603/31/08127Genomicunknown
ss66685398ILLUMINA|HumanHap300v1.1_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta11/09/0611/09/06127Genomicunknown
ss67398142ILLUMINA|HumanHap550v1.1_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta11/14/0611/14/06127Genomicunknown
ss67768699ILLUMINA|HumanHap650Yv1.0_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta11/14/0611/14/06127Genomicunknown
ss70835775ILLUMINA|HumanHap550v3.0__rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta04/20/0703/31/08130Genomicunknown
ss71418989ILLUMINA|HumanHap650Yv3.0_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta04/23/0704/23/07127Genomicunknown
ss75564695ILLUMINA|ILMN_Human_1M_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta08/28/0708/29/07129Genomicunknown
ss76085675AFFY|AFFY_6_1M_SNP_A-2000891fwd/TA/Cgtggtctgactctgtaatatgtccaactggct08/28/0708/29/07129Genomicunknown
ss78501069HGSV|Cor18507_SNV_20070510.chr1_245186682fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta10/19/0710/19/07129Genomicunknown
ss79202345ILLUMINA|HumanHap300v2.0_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta04/18/0711/18/07130Genomicunknown
ss84397361KRIBB_YJKIM|KHS701512fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta12/04/0712/07/07130Genomicunknown
ss88056549BCMHGSC_JDW|JWB-0219887fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta02/26/0802/27/08129Genomicunknown
ss1091452161000GENOMES|CEU.trio.12.15.2008_295541_chr1_246927264fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta12/16/0812/16/08130Genomicunknown
ss119292955ILLUMINA-UK|NA18507_000268448_NCBI36.1_chr1_246927264fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta01/21/0901/22/09130Genomic99 %
ss122430040ILLUMINA|HumanCNV370v1_C_rs4916176fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta04/14/0904/15/09131Genomicunknown
ss138196470ENSEMBL|ENSSNP6671975fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta05/15/0905/17/09131Genomicunknown
ss154328650ILLUMINA|Human610_Quadv1_B_rs4916176-128_T_F_1501783091fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta06/18/0906/20/09131Genomicunknown
ss159505170ILLUMINA|Human660W-Quad_v1_A_rs4916176-128_T_F_1501783091fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta07/06/0907/07/09131Genomicunknown
ss160727521ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4916176-128_T_F_1501783091fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta08/04/0910/04/09131Genomicunknown
ss171976110ILLUMINA|HumanCNV370-Quadv3_C_rs4916176-128_T_F_1501783091fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta10/01/0910/04/09132Genomicunknown
ss172451430AFFY|GenomeWideSNP_5_SNP_A-2000891fwd/TA/Cgtggtctgactctgtaatatgtccaactggct10/01/0910/02/09132Genomicunknown
ss173872921ILLUMINA|Human1M-Duov3_B_rs4916176-128_T_F_1501783091fwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta10/01/0910/04/09132Genomicunknown
ss199920063BUSHMAN|BUSHMAN-chr1-246927263byFreqfwd/TA/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta02/16/1009/05/14132Genomicunknown
ss2190121461000GENOMES|pilot_1_YRI_821829_chr1_246927264fwd/A/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta04/22/1004/22/10132Genomicunknown
ss2310000491000GENOMES|pilot_1_CEU_604678_chr1_246927264fwd/A/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta05/01/1005/01/10132Genomicunknown
ss2385937211000GENOMES|pilot_1_CHB+JPT_478798_chr1_246927264fwd/A/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta05/01/1005/01/10132Genomicunknown
ss276316178GMI|GMI_AK_SNP_636345fwd/A/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta12/16/1012/16/10137Genomicunknown
ss290792045PJP|SNP_298403_chr1_246927264fwd/A/Catgaggacacagcagtggtctgactctgtaatatgtccaactggctttcacattcactta01/21/1101/21/11134Genomicunknown
ss482112234ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4916176-131_T_F_1863147619fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc01/30/1208/28/15146Genomicunknown
ss537292959ILLUMINA|HumanOmni5-4v1_B_rs4916176-131_T_F_1866551854fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc06/22/1208/28/15146Genomicunknown
ss555294269TISHKOFF|snp_chr1_248860641fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc11/22/1211/23/12138Genomicunknown
ss648871488SSMP|1_248860641fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc12/14/1202/10/15138Genomicunknown
ss825532863ILLUMINA|HumanCNV370v1_C_rs4916176-126_T_F_IFB1152240365:0fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc06/24/1311/21/14144Genomicunknown
ss833016512ILLUMINA|Human660W-Quad_v1_C_rs4916176-131_T_F_1863147619fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc09/18/1307/02/15142Genomicunknown
ss833607340ILLUMINA|Human660W-Quad_v1_H_rs4916176-131_T_F_1863147619fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc09/18/1307/02/15142Genomicunknown
ss976394876EVA-GONL|EVA-GONL_rs4916176fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc04/23/1404/23/14142Genomicunknown
ss1068789375JMKIDD_LAB|HGDP_WGS_chr1_248860641fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc07/10/1407/10/14142Genomicunknown
ss12955668981000GENOMES|PHASE3_V1_6488995fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc08/16/1408/16/14142Genomicunknown
ss1426188669DDI|DDI_rs4916176fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc11/04/1411/04/14144Genomicunknown
ss1574840669EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4916176fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc02/19/1502/19/15144Genomicunknown
ss1585796344EVA_DECODE|EVA_DECODE_1_246927264_1667105_rs4916176fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc03/02/1503/02/15144Genomicunknown
ss1602623048EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_248860641_3572815fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc03/04/1503/04/15144Genomicunknown
ss1645617081EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_248860641_3572815fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc03/04/1503/04/15144Genomicunknown
ss1712424331EVA_SVP|EVA_SVP_118883fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc03/12/1503/12/15144Genomicunknown
ss1796105543HAMMER_LAB|Hsieh_690313fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc07/15/1507/15/15146Genomicunknown
ss1919621500WEILL_CORNELL_DGM|SNV:chr1:248860641fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc10/16/1510/16/15147Genomicunknown
ss2020338334JJLAB|SNP840889fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc08/29/1608/30/16149Genomicunknown
ss2094787198ILLUMINA|Immuno_BeadChip_11419691_B_rs4916176-131_T_F_1866551854fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc09/27/1609/27/16150Genomicunknown
ss2095004118ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs4916176-131_T_F_1866551854fwd/TA/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc09/27/1609/27/16150Genomicunknown
ss2148377658USC_VALOUEV|NC_000001.10:g.248860641A>Cfwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc11/17/1611/17/16150Genomicunknown
ss2171918407HUMAN_LONGEVITY|HLI-1-248697340-A-Cfwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc11/18/1611/18/16150Genomicunknown
ss2334617397TOPMED|1_248860641_A/Cfwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc11/19/1611/19/16150Genomicunknown
ss2698387417GRF|rs4916176fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc02/13/1702/13/17151Genomicunknown
ss2768791638GNOMAD|rs4916176fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc05/17/1705/17/17151Genomicunknown
ss2988838119SWEGEN|NC_000001.10:g.248860641A>Cfwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc05/30/1705/30/17151Genomicunknown
ss3023932606BIOINF_KMB_FNS_UNIBA|1.248697340A>Cfwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc07/05/1707/05/17151Genomicunknown
ss3109264698TOPMED|TOPMed_freeze_5?chr1:248,697,340fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc09/28/1709/28/17151Genomicunknown
ss3344029307CSHL|rs4916176fwd/A/Cgacacagcagtggtctgactctgtaatatgtccaactggctttcacattc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4916176|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GGCAGGGATT TTTATAGTAA CTCTAGTGTT ATTGGATGCG TTTGAAAGTG TCACATGAGG
 AAGGCAGGGG TGAGGATTAG GGAAGGGTGA ATGGGGTGGG TGGATCTAGT TCTAGCGGCT
 GTTCTATGAG AATGAGTACA TTTGCTTGTC AATGGCAAAT AACTAGCCAG TCTTCTATCT
 TTTTTTAACA GTCTCCTGGG AGATTAAGAT GAGTGATCTA GAGGAGGAAG ATGTTGATGA
 ATTCAGCTCC AGTGGTTTTA AGTGCCCAAC ATGCTTTGCA GTGCAAGGAA GGAAATGCGA
 TACAGAACTC AAATGGTGTG CAGCAGATAA AATAAAGTGT ATTGAATTCT CTGGCATCAT
 AAACACAGGT ACTTTTCTAG GATGTACTGG TATTCTCTCA CAAGCTTATG GGGTATGTGT
 TCCAAGGGTA GGGTTGAGGA GAAATCAGCT TTTGTCCAAA TCTCTTAGAA ATGAGGACAC
 AGCAGTGGTC TGACTCTGTA
 M
 ATATGTCCAA CTGGCTTTCA CATTCACTTA TTTTTGAATT GATACATGTA TTCATTGACA
 GGCTCTCTAC TAGCTTTGAG GAAGTTGGTT CAGCATATTG GAGGAATCTT CATCTTCTGC
 AAATTTTGGT TAGGTTTAAA AAAAAAAAAA AAAAAAAAAC ATGGCCGGGC GCGGTAGCTC
 ATGCCTGTAA TCCCAGCACT TTGGGAGGCT GAGGCGGGCA GATCACTTGA GGTCGGGAGT
 TCAAGACCAG CCTGACCAAC ATGGAGAAAC CCCGTCCCTA CTAAAAATAC AAAATTGGCC
 GGAGTGGTGG CACATGCCTG TAATCCCAGC TACTCGGGAG ACTGAGGCAG GAGAATCACT
 TGAACCCAGG AGGCGGAGGT TGTGGTGAGC CGAGATTGCT CCACTGCACT CCAGCCTGGG
 CAACAAGAGC AAAACTCCAT CTCAAAAAAA CAAAAAACAA AAAACCACGG GGGCAATGTG
 TGCTTTTTTC CTCTGTTGTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077390
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
ss119292955YRI 2IG 1.00000000 0.500000000.50000000
ss1295566898EAS 1008AF 0.865100030.13490000
EUR 1006AF 0.878700020.12130000
AFR 1322AF 0.673200010.32679999
AMR 694AF 0.897699950.10230000
SAS 978AF 0.845600010.15440001
ss138196470ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss199920063BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss219012146pilot_1_YRI_low_coverage_panel 118AF 0.677966120.32203391
ss231000049pilot_1_CEU_low_coverage_panel 120AF 0.916666690.08333334
ss23161881AFD_EUR_PANELEuropean 48IG0.833333310.16666667 1.000000000.916666690.08333334
AFD_AFR_PANELAfrican American 44IG0.500000000.363636370.136363640.479500000.681818190.31818181
AFD_CHN_PANELAsian 48IG0.625000000.333333340.041666671.000000000.791666690.20833333
ss238593721pilot_1_CHB+JPT_low_coverage_panel 120AF 0.850000020.15000001
ss66364376HapMap-CEUEuropean 118IG0.830508470.16949153 1.000000000.915254240.08474576
HapMap-HCBAsian 90IG0.666666690.200000000.133333340.004998000.766666650.23333333
HapMap-JPTAsian 90IG0.800000010.177777780.022222220.527089000.888888900.11111111
HapMap-YRISub-Saharan African 120IG0.516666650.400000010.083333341.000000000.716666640.28333333
ss76085675ICMHP 10IG1.00000000 1.00000000
ss9850946HapMap-CEUEuropean 226IG0.752212410.24778761 0.479500000.876106200.12389380
HapMap-HCBAsian 86IG0.651162800.209302320.139534890.004998000.755813960.24418604
HapMap-JPTAsian 170IG0.800000010.176470590.023529410.317310000.888235270.11176471
HapMap-YRISub-Saharan African 226IG0.415929200.469026540.115044250.751830000.650442480.34955752
HAPMAP-ASW 98IG0.612244900.326530610.061224490.751830000.775510190.22448979
HAPMAP-CHBAsian 82IG0.853658560.14634146 1.000000000.926829280.07317073
HAPMAP-CHD 170IG0.705882370.235294120.058823530.099721000.823529420.17647059
HAPMAP-GIH 176IG0.636363630.352272720.011363640.150222000.812500000.18750000
HAPMAP-LWK 180IG0.388888900.400000010.211111110.099721000.588888880.41111112
HAPMAP-MEX 100IG0.720000030.28000000 0.583882000.860000010.14000000
HAPMAP-MKK 286IG0.412587400.482517480.104895110.438578000.653846140.34615386
HAPMAP-TSI 176IG0.795454560.193181810.011363641.000000000.892045440.10795455
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.298+/-0.2450000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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