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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs12142199

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1313807 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.485107 (128403/264690, TOPMED)
G=0.423222 (105968/250384, GnomAD_exome)
G=0.259165 (44596/172076, ALFA) (+ 19 more)
G=0.420928 (50668/120372, ExAC)
A=0.00662 (111/16760, 8.3KJPN)
G=0.41357 (5378/13004, GO-ESP)
A=0.3101 (1553/5008, 1000G)
G=0.2132 (955/4480, Estonian)
G=0.2146 (827/3854, ALSPAC)
G=0.2104 (780/3708, TWINSUK)
A=0.0154 (45/2922, KOREAN)
A=0.2838 (537/1892, HapMap)
A=0.0147 (27/1832, Korea1K)
G=0.183 (183/998, GoNL)
A=0.016 (10/616, Vietnamese)
G=0.215 (129/600, NorthernSweden)
G=0.257 (137/534, MGP)
G=0.240 (73/304, FINRISK)
G=0.394 (85/216, Qatari)
G=0.238 (50/210, SGDP_PRJ)
G=0.24 (24/98, Ancient Sardinia)
G=0.30 (13/44, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
INTS11 : Missense Variant
MIR6727 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 1 NC_000001.11:g.1313807G>A
GRCh38.p13 chr 1 NC_000001.11:g.1313807G>C
GRCh38.p13 chr 1 NC_000001.11:g.1313807G>T
GRCh37.p13 chr 1 NC_000001.10:g.1249187G>A
GRCh37.p13 chr 1 NC_000001.10:g.1249187G>C
GRCh37.p13 chr 1 NC_000001.10:g.1249187G>T
Gene: INTS11, integrator complex subunit 11 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
INTS11 transcript variant 5 NM_001256463.2:c.579C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform 5 NP_001243392.1:p.Phe193= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant 5 NM_001256463.2:c.579C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform 5 NP_001243392.1:p.Phe193Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 5 NM_001256463.2:c.579C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform 5 NP_001243392.1:p.Phe193Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 2 NM_017871.6:c.882C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform 2 NP_060341.2:p.Phe294= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant 2 NM_017871.6:c.882C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform 2 NP_060341.2:p.Phe294Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 2 NM_017871.6:c.882C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform 2 NP_060341.2:p.Phe294Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 4 NM_001256462.2:c.588C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform 4 NP_001243391.1:p.Phe196= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant 4 NM_001256462.2:c.588C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform 4 NP_001243391.1:p.Phe196Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 4 NM_001256462.2:c.588C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform 4 NP_001243391.1:p.Phe196Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 1 NM_001256456.2:c.900C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform 1 NP_001243385.1:p.Phe300= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant 1 NM_001256456.2:c.900C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform 1 NP_001243385.1:p.Phe300Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 1 NM_001256456.2:c.900C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform 1 NP_001243385.1:p.Phe300Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 3 NM_001256460.2:c.795C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform 3 NP_001243389.1:p.Phe265= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant 3 NM_001256460.2:c.795C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform 3 NP_001243389.1:p.Phe265Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant 3 NM_001256460.2:c.795C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform 3 NP_001243389.1:p.Phe265Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X1 XM_011541647.1:c.1062C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform X1 XP_011539949.1:p.Phe354= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant X1 XM_011541647.1:c.1062C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform X1 XP_011539949.1:p.Phe354Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X1 XM_011541647.1:c.1062C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform X1 XP_011539949.1:p.Phe354Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X2 XM_011541648.1:c.948C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform X2 XP_011539950.1:p.Phe316= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant X2 XM_011541648.1:c.948C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform X2 XP_011539950.1:p.Phe316Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X2 XM_011541648.1:c.948C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform X2 XP_011539950.1:p.Phe316Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X3 XM_017001557.1:c.510C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857046.1:p.Phe170= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant X3 XM_017001557.1:c.510C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857046.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X3 XM_017001557.1:c.510C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857046.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X5 XM_017001558.1:c.510C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857047.1:p.Phe170= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant X5 XM_017001558.1:c.510C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857047.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X5 XM_017001558.1:c.510C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_016857047.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X4 XM_011541650.2:c.510C>T F [TTC] > F [TTT] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_011539952.1:p.Phe170= F (Phe) > F (Phe) Synonymous Variant
INTS11 transcript variant X4 XM_011541650.2:c.510C>G F [TTC] > L [TTG] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_011539952.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
INTS11 transcript variant X4 XM_011541650.2:c.510C>A F [TTC] > L [TTA] Coding Sequence Variant
integrator complex subunit 11 isoform X3 XP_011539952.1:p.Phe170Leu F (Phe) > L (Leu) Missense Variant
Gene: MIR6727, microRNA 6727 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR6727 transcript NR_106785.1:n. N/A Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 172076 G=0.259165 A=0.740835, C=0.000000, T=0.000000
European Sub 142968 G=0.199653 A=0.800347, C=0.000000, T=0.000000
African Sub 9092 G=0.8374 A=0.1626, C=0.0000, T=0.0000
African Others Sub 328 G=0.973 A=0.027, C=0.000, T=0.000
African American Sub 8764 G=0.8324 A=0.1676, C=0.0000, T=0.0000
Asian Sub 678 G=0.988 A=0.012, C=0.000, T=0.000
East Asian Sub 516 G=0.988 A=0.012, C=0.000, T=0.000
Other Asian Sub 162 G=0.988 A=0.012, C=0.000, T=0.000
Latin American 1 Sub 980 G=0.468 A=0.532, C=0.000, T=0.000
Latin American 2 Sub 5786 G=0.6248 A=0.3752, C=0.0000, T=0.0000
South Asian Sub 138 G=0.674 A=0.326, C=0.000, T=0.000
Other Sub 12434 G=0.28961 A=0.71039, C=0.00000, T=0.00000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.485107 A=0.514893
gnomAD - Exomes Global Study-wide 250384 G=0.423222 A=0.576778
gnomAD - Exomes European Sub 134540 G=0.213297 A=0.786703
gnomAD - Exomes Asian Sub 48992 G=0.74884 A=0.25116
gnomAD - Exomes American Sub 34564 G=0.66312 A=0.33688
gnomAD - Exomes African Sub 16160 G=0.85248 A=0.14752
gnomAD - Exomes Ashkenazi Jewish Sub 10020 G=0.18273 A=0.81727
gnomAD - Exomes Other Sub 6108 G=0.3368 A=0.6632
ExAC Global Study-wide 120372 G=0.420928 A=0.579072
ExAC Europe Sub 72498 G=0.20878 A=0.79122
ExAC Asian Sub 25144 G=0.74085 A=0.25915
ExAC American Sub 11554 G=0.68478 A=0.31522
ExAC African Sub 10280 G=0.84397 A=0.15603
ExAC Other Sub 896 G=0.353 A=0.647
8.3KJPN JAPANESE Study-wide 16760 G=0.99338 A=0.00662
GO Exome Sequencing Project Global Study-wide 13004 G=0.41357 A=0.58643
GO Exome Sequencing Project European American Sub 8600 G=0.2022 A=0.7978
GO Exome Sequencing Project African American Sub 4404 G=0.8263 A=0.1737
1000Genomes Global Study-wide 5008 G=0.6899 A=0.3101
1000Genomes African Sub 1322 G=0.9349 A=0.0651
1000Genomes East Asian Sub 1008 G=0.9812 A=0.0188
1000Genomes Europe Sub 1006 G=0.1948 A=0.8052
1000Genomes South Asian Sub 978 G=0.660 A=0.340
1000Genomes American Sub 694 G=0.561 A=0.439
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2132 A=0.7868
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2146 A=0.7854
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2104 A=0.7896
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9846 A=0.0154
HapMap Global Study-wide 1892 G=0.7162 A=0.2838
HapMap American Sub 770 G=0.584 A=0.416
HapMap African Sub 692 G=0.906 A=0.094
HapMap Asian Sub 254 G=0.992 A=0.008
HapMap Europe Sub 176 G=0.148 A=0.852
Korean Genome Project KOREAN Study-wide 1832 G=0.9853 A=0.0147
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.183 A=0.817
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.984 A=0.016
Northern Sweden ACPOP Study-wide 600 G=0.215 A=0.785
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.257 A=0.743
FINRISK Finnish from FINRISK project Study-wide 304 G=0.240 A=0.760
Qatari Global Study-wide 216 G=0.394 A=0.606
SGDP_PRJ Global Study-wide 210 G=0.238 A=0.762
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 98 G=0.24 A=0.76
Siberian Global Study-wide 44 G=0.30 A=0.70
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C T
GRCh38.p13 chr 1 NC_000001.11:g.1313807= NC_000001.11:g.1313807G>A NC_000001.11:g.1313807G>C NC_000001.11:g.1313807G>T
GRCh37.p13 chr 1 NC_000001.10:g.1249187= NC_000001.10:g.1249187G>A NC_000001.10:g.1249187G>C NC_000001.10:g.1249187G>T
INTS11 transcript variant 2 NM_017871.6:c.882= NM_017871.6:c.882C>T NM_017871.6:c.882C>G NM_017871.6:c.882C>A
INTS11 transcript variant 2 NM_017871.5:c.882= NM_017871.5:c.882C>T NM_017871.5:c.882C>G NM_017871.5:c.882C>A
INTS11 transcript variant 1 NM_001256456.2:c.900= NM_001256456.2:c.900C>T NM_001256456.2:c.900C>G NM_001256456.2:c.900C>A
INTS11 transcript variant 1 NM_001256456.1:c.900= NM_001256456.1:c.900C>T NM_001256456.1:c.900C>G NM_001256456.1:c.900C>A
INTS11 transcript variant 3 NM_001256460.2:c.795= NM_001256460.2:c.795C>T NM_001256460.2:c.795C>G NM_001256460.2:c.795C>A
INTS11 transcript variant 3 NM_001256460.1:c.795= NM_001256460.1:c.795C>T NM_001256460.1:c.795C>G NM_001256460.1:c.795C>A
INTS11 transcript variant X4 XM_011541650.2:c.510= XM_011541650.2:c.510C>T XM_011541650.2:c.510C>G XM_011541650.2:c.510C>A
INTS11 transcript variant 4 NM_001256462.2:c.588= NM_001256462.2:c.588C>T NM_001256462.2:c.588C>G NM_001256462.2:c.588C>A
INTS11 transcript variant 4 NM_001256462.1:c.588= NM_001256462.1:c.588C>T NM_001256462.1:c.588C>G NM_001256462.1:c.588C>A
INTS11 transcript variant 5 NM_001256463.2:c.579= NM_001256463.2:c.579C>T NM_001256463.2:c.579C>G NM_001256463.2:c.579C>A
INTS11 transcript variant 5 NM_001256463.1:c.579= NM_001256463.1:c.579C>T NM_001256463.1:c.579C>G NM_001256463.1:c.579C>A
INTS11 transcript variant X2 XM_011541648.1:c.948= XM_011541648.1:c.948C>T XM_011541648.1:c.948C>G XM_011541648.1:c.948C>A
INTS11 transcript variant X1 XM_011541647.1:c.1062= XM_011541647.1:c.1062C>T XM_011541647.1:c.1062C>G XM_011541647.1:c.1062C>A
INTS11 transcript variant X5 XM_017001558.1:c.510= XM_017001558.1:c.510C>T XM_017001558.1:c.510C>G XM_017001558.1:c.510C>A
INTS11 transcript variant X3 XM_017001557.1:c.510= XM_017001557.1:c.510C>T XM_017001557.1:c.510C>G XM_017001557.1:c.510C>A
CPSF3L transcript variant 2 NM_032179.1:c.817= NM_032179.1:c.817C>T NM_032179.1:c.817C>G NM_032179.1:c.817C>A
integrator complex subunit 11 isoform 2 NP_060341.2:p.Phe294= NP_060341.2:p.Phe294= NP_060341.2:p.Phe294Leu NP_060341.2:p.Phe294Leu
integrator complex subunit 11 isoform 1 NP_001243385.1:p.Phe300= NP_001243385.1:p.Phe300= NP_001243385.1:p.Phe300Leu NP_001243385.1:p.Phe300Leu
integrator complex subunit 11 isoform 3 NP_001243389.1:p.Phe265= NP_001243389.1:p.Phe265= NP_001243389.1:p.Phe265Leu NP_001243389.1:p.Phe265Leu
integrator complex subunit 11 isoform X3 XP_011539952.1:p.Phe170= XP_011539952.1:p.Phe170= XP_011539952.1:p.Phe170Leu XP_011539952.1:p.Phe170Leu
integrator complex subunit 11 isoform 4 NP_001243391.1:p.Phe196= NP_001243391.1:p.Phe196= NP_001243391.1:p.Phe196Leu NP_001243391.1:p.Phe196Leu
integrator complex subunit 11 isoform 5 NP_001243392.1:p.Phe193= NP_001243392.1:p.Phe193= NP_001243392.1:p.Phe193Leu NP_001243392.1:p.Phe193Leu
integrator complex subunit 11 isoform X2 XP_011539950.1:p.Phe316= XP_011539950.1:p.Phe316= XP_011539950.1:p.Phe316Leu XP_011539950.1:p.Phe316Leu
integrator complex subunit 11 isoform X1 XP_011539949.1:p.Phe354= XP_011539949.1:p.Phe354= XP_011539949.1:p.Phe354Leu XP_011539949.1:p.Phe354Leu
integrator complex subunit 11 isoform X3 XP_016857047.1:p.Phe170= XP_016857047.1:p.Phe170= XP_016857047.1:p.Phe170Leu XP_016857047.1:p.Phe170Leu
integrator complex subunit 11 isoform X3 XP_016857046.1:p.Phe170= XP_016857046.1:p.Phe170= XP_016857046.1:p.Phe170Leu XP_016857046.1:p.Phe170Leu
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

117 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18291173 Feb 28, 2004 (120)
2 SSAHASNP ss20514600 Apr 05, 2004 (121)
3 MGC_GENOME_DIFF ss28504584 Sep 24, 2004 (126)
4 MGC_GENOME_DIFF ss28504595 Sep 24, 2004 (126)
5 MGC_GENOME_DIFF ss28506070 Sep 24, 2004 (126)
6 APPLERA_GI ss48418332 Mar 10, 2006 (126)
7 PERLEGEN ss68756332 May 16, 2007 (127)
8 AFFY ss74813087 Aug 16, 2007 (128)
9 ILLUMINA ss75064772 Dec 07, 2007 (129)
10 HGSV ss78325262 Dec 07, 2007 (129)
11 BCMHGSC_JDW ss87159005 Mar 23, 2008 (129)
12 HUMANGENOME_JCVI ss99179836 Feb 06, 2009 (130)
13 1000GENOMES ss107938648 Jan 22, 2009 (130)
14 ENSEMBL ss131647967 Dec 01, 2009 (131)
15 SEATTLESEQ ss159695720 Dec 01, 2009 (131)
16 ILLUMINA ss160036941 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163709768 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss165983459 Jul 04, 2010 (132)
19 ILLUMINA ss171890945 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205221790 Jul 04, 2010 (132)
21 1000GENOMES ss218192919 Jul 14, 2010 (132)
22 1000GENOMES ss230397083 Jul 14, 2010 (132)
23 1000GENOMES ss238116519 Jul 15, 2010 (132)
24 ILLUMINA ss244275520 Jul 04, 2010 (132)
25 BL ss252866695 May 09, 2011 (134)
26 GMI ss283988202 Apr 25, 2013 (138)
27 PJP ss290494542 May 09, 2011 (134)
28 NHLBI-ESP ss341925102 May 09, 2011 (134)
29 ILLUMINA ss479681389 May 04, 2012 (137)
30 ILLUMINA ss479686902 May 04, 2012 (137)
31 ILLUMINA ss480213431 Sep 08, 2015 (146)
32 ILLUMINA ss484639247 May 04, 2012 (137)
33 1000GENOMES ss489714948 May 04, 2012 (137)
34 CLINSEQ_SNP ss491582021 May 04, 2012 (137)
35 ILLUMINA ss536758512 Sep 08, 2015 (146)
36 TISHKOFF ss553716066 Apr 25, 2013 (138)
37 SSMP ss647519796 Apr 25, 2013 (138)
38 ILLUMINA ss778775308 Sep 08, 2015 (146)
39 ILLUMINA ss782766462 Sep 08, 2015 (146)
40 ILLUMINA ss783732747 Sep 08, 2015 (146)
41 ILLUMINA ss832018811 Sep 08, 2015 (146)
42 ILLUMINA ss834235197 Sep 08, 2015 (146)
43 JMKIDD_LAB ss974432540 Aug 21, 2014 (142)
44 EVA-GONL ss974773929 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067414573 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1067614703 Aug 21, 2014 (142)
47 1000GENOMES ss1289358619 Aug 21, 2014 (142)
48 DDI ss1425686192 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584003711 Apr 01, 2015 (144)
50 EVA_DECODE ss1584133894 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1599386139 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1642380172 Apr 01, 2015 (144)
53 EVA_EXAC ss1685231470 Apr 01, 2015 (144)
54 EVA_MGP ss1710883967 Apr 01, 2015 (144)
55 EVA_SVP ss1712305645 Apr 01, 2015 (144)
56 ILLUMINA ss1751867695 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1917966484 Feb 12, 2016 (147)
58 GENOMED ss1966667957 Jul 19, 2016 (147)
59 JJLAB ss2019500883 Sep 14, 2016 (149)
60 ILLUMINA ss2094782215 Dec 20, 2016 (150)
61 ILLUMINA ss2094948887 Dec 20, 2016 (150)
62 USC_VALOUEV ss2147488004 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2159402925 Dec 20, 2016 (150)
64 TOPMED ss2321542485 Dec 20, 2016 (150)
65 ILLUMINA ss2632465970 Nov 08, 2017 (151)
66 GNOMAD ss2731008831 Nov 08, 2017 (151)
67 GNOMAD ss2746177566 Nov 08, 2017 (151)
68 GNOMAD ss2750695285 Nov 08, 2017 (151)
69 AFFY ss2984841444 Nov 08, 2017 (151)
70 AFFY ss2985495032 Nov 08, 2017 (151)
71 SWEGEN ss2986157735 Nov 08, 2017 (151)
72 EVA_SAMSUNG_MC ss3023056084 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3023514669 Nov 08, 2017 (151)
74 TOPMED ss3066524011 Nov 08, 2017 (151)
75 CSHL ss3343275523 Nov 08, 2017 (151)
76 ILLUMINA ss3626007514 Oct 11, 2018 (152)
77 ILLUMINA ss3630505935 Oct 11, 2018 (152)
78 ILLUMINA ss3633571539 Oct 11, 2018 (152)
79 ILLUMINA ss3634302278 Oct 11, 2018 (152)
80 ILLUMINA ss3635265741 Oct 11, 2018 (152)
81 ILLUMINA ss3635978827 Oct 11, 2018 (152)
82 ILLUMINA ss3637016082 Oct 11, 2018 (152)
83 ILLUMINA ss3637732633 Oct 11, 2018 (152)
84 ILLUMINA ss3640009644 Oct 11, 2018 (152)
85 ILLUMINA ss3642746903 Oct 11, 2018 (152)
86 OMUKHERJEE_ADBS ss3646219153 Oct 11, 2018 (152)
87 URBANLAB ss3646582081 Oct 11, 2018 (152)
88 ILLUMINA ss3651366346 Oct 11, 2018 (152)
89 ILLUMINA ss3653615223 Oct 11, 2018 (152)
90 EGCUT_WGS ss3654268847 Jul 12, 2019 (153)
91 EVA_DECODE ss3686002327 Jul 12, 2019 (153)
92 ACPOP ss3726720493 Jul 12, 2019 (153)
93 ILLUMINA ss3744603208 Jul 12, 2019 (153)
94 EVA ss3745726709 Jul 12, 2019 (153)
95 ILLUMINA ss3772104959 Jul 12, 2019 (153)
96 PACBIO ss3783303232 Jul 12, 2019 (153)
97 PACBIO ss3788980967 Jul 12, 2019 (153)
98 PACBIO ss3793853567 Jul 12, 2019 (153)
99 KHV_HUMAN_GENOMES ss3798749460 Jul 12, 2019 (153)
100 EVA ss3823544331 Apr 25, 2020 (154)
101 EVA ss3825517445 Apr 25, 2020 (154)
102 EVA ss3825549659 Apr 25, 2020 (154)
103 EVA ss3825983615 Apr 25, 2020 (154)
104 EVA ss3836379253 Apr 25, 2020 (154)
105 EVA ss3841783282 Apr 25, 2020 (154)
106 SGDP_PRJ ss3848009880 Apr 25, 2020 (154)
107 KRGDB ss3892853155 Apr 25, 2020 (154)
108 KOGIC ss3943640957 Apr 25, 2020 (154)
109 FSA-LAB ss3983911042 Apr 25, 2021 (155)
110 FSA-LAB ss3983911043 Apr 25, 2021 (155)
111 EVA ss3984774141 Apr 25, 2021 (155)
112 EVA ss3986007886 Apr 25, 2021 (155)
113 EVA ss3986091873 Apr 25, 2021 (155)
114 TOPMED ss4436583887 Apr 25, 2021 (155)
115 TOMMO_GENOMICS ss5142077307 Apr 25, 2021 (155)
116 EVA ss5236862616 Apr 25, 2021 (155)
117 EVA ss5237158441 Apr 25, 2021 (155)
118 1000Genomes NC_000001.10 - 1249187 Oct 11, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1249187 Oct 11, 2018 (152)
120 Genetic variation in the Estonian population NC_000001.10 - 1249187 Oct 11, 2018 (152)
121 ExAC NC_000001.10 - 1249187 Oct 11, 2018 (152)
122 FINRISK NC_000001.10 - 1249187 Apr 25, 2020 (154)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 197496 (NC_000001.11:1313806:G:A 77655/140142)
Row 197497 (NC_000001.11:1313806:G:C 1/140180)

- Apr 25, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 197496 (NC_000001.11:1313806:G:A 77655/140142)
Row 197497 (NC_000001.11:1313806:G:C 1/140180)

- Apr 25, 2021 (155)
125 gnomAD - Exomes NC_000001.10 - 1249187 Jul 12, 2019 (153)
126 GO Exome Sequencing Project NC_000001.10 - 1249187 Oct 11, 2018 (152)
127 Genome of the Netherlands Release 5 NC_000001.10 - 1249187 Apr 25, 2020 (154)
128 HapMap NC_000001.11 - 1313807 Apr 25, 2020 (154)
129 KOREAN population from KRGDB NC_000001.10 - 1249187 Apr 25, 2020 (154)
130 Korean Genome Project NC_000001.11 - 1313807 Apr 25, 2020 (154)
131 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 1249187 Apr 25, 2020 (154)
132 Northern Sweden NC_000001.10 - 1249187 Jul 12, 2019 (153)
133 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1249187 Apr 25, 2021 (155)
134 Qatari NC_000001.10 - 1249187 Apr 25, 2020 (154)
135 SGDP_PRJ NC_000001.10 - 1249187 Apr 25, 2020 (154)
136 Siberian NC_000001.10 - 1249187 Apr 25, 2020 (154)
137 8.3KJPN NC_000001.10 - 1249187 Apr 25, 2021 (155)
138 TopMed NC_000001.11 - 1313807 Apr 25, 2021 (155)
139 UK 10K study - Twins NC_000001.10 - 1249187 Oct 11, 2018 (152)
140 A Vietnamese Genetic Variation Database NC_000001.10 - 1249187 Jul 12, 2019 (153)
141 ALFA NC_000001.11 - 1313807 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17850282 Mar 10, 2006 (126)
rs17850293 Mar 10, 2006 (126)
rs17851768 Mar 10, 2006 (126)
rs52791574 Sep 21, 2007 (128)
rs386523011 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78325262 NC_000001.8:1289109:G:A NC_000001.11:1313806:G:A (self)
ss87159005, ss107938648, ss163709768, ss165983459, ss205221790, ss252866695, ss283988202, ss290494542, ss479681389, ss491582021, ss1584133894, ss1712305645, ss3642746903 NC_000001.9:1239049:G:A NC_000001.11:1313806:G:A (self)
23963, 8776, 7095, 4405622, 172, 23706, 3067, 3618, 30549, 719, 5358, 68, 8414, 26860, 4358, 46614, 8776, 1894, ss218192919, ss230397083, ss238116519, ss341925102, ss479686902, ss480213431, ss484639247, ss489714948, ss536758512, ss553716066, ss647519796, ss778775308, ss782766462, ss783732747, ss832018811, ss834235197, ss974432540, ss974773929, ss1067414573, ss1067614703, ss1289358619, ss1425686192, ss1584003711, ss1599386139, ss1642380172, ss1685231470, ss1710883967, ss1751867695, ss1917966484, ss1966667957, ss2019500883, ss2094782215, ss2094948887, ss2147488004, ss2321542485, ss2632465970, ss2731008831, ss2746177566, ss2750695285, ss2984841444, ss2985495032, ss2986157735, ss3023056084, ss3343275523, ss3626007514, ss3630505935, ss3633571539, ss3634302278, ss3635265741, ss3635978827, ss3637016082, ss3637732633, ss3640009644, ss3646219153, ss3651366346, ss3653615223, ss3654268847, ss3726720493, ss3744603208, ss3745726709, ss3772104959, ss3783303232, ss3788980967, ss3793853567, ss3823544331, ss3825517445, ss3825549659, ss3825983615, ss3836379253, ss3848009880, ss3892853155, ss3983911042, ss3983911043, ss3984774141, ss3986007886, ss3986091873, ss5142077307 NC_000001.10:1249186:G:A NC_000001.11:1313806:G:A (self)
405, 18958, 111802, 190222, 4345959411, ss2159402925, ss3023514669, ss3066524011, ss3646582081, ss3686002327, ss3798749460, ss3841783282, ss3943640957, ss4436583887, ss5236862616, ss5237158441 NC_000001.11:1313806:G:A NC_000001.11:1313806:G:A (self)
ss28504584, ss28504595, ss28506070, ss48418332, ss68756332, ss74813087, ss75064772, ss99179836, ss131647967, ss159695720, ss160036941, ss171890945, ss244275520 NT_004350.19:727818:G:A NC_000001.11:1313806:G:A (self)
ss18291173, ss20514600 NT_077913.2:252897:G:A NC_000001.11:1313806:G:A (self)
ss2746177566, ss2750695285 NC_000001.10:1249186:G:C NC_000001.11:1313806:G:C (self)
4345959411 NC_000001.11:1313806:G:C NC_000001.11:1313806:G:C
4345959411 NC_000001.11:1313806:G:T NC_000001.11:1313806:G:T
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs12142199

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad