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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.

rs8099917

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr19:39252525 (GRCh38.p12) 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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.195165 (36168/185320, ALFA Project)
G=0.152539 (19154/125568, TOPMED)
G=0.14906 (11731/78700, PAGE_STUDY) (+ 17 more)
G=0.14710 (4615/31374, GnomAD)
G=0.1312 (657/5008, 1000G)
G=0.2054 (920/4480, Estonian)
G=0.1943 (749/3854, ALSPAC)
G=0.2009 (745/3708, TWINSUK)
G=0.0519 (152/2930, KOREAN)
G=0.1665 (347/2084, HGDP_Stanford)
G=0.1196 (226/1890, HapMap)
G=0.198 (198/998, GoNL)
G=0.275 (172/626, Chileans)
G=0.128 (77/600, NorthernSweden)
G=0.148 (32/216, Qatari)
G=0.079 (17/216, Vietnamese)
T=0.432 (64/148, SGDP_PRJ)
G=0.23 (9/40, GENOME_DK)
T=0.50 (6/12, Siberian)
G=0.50 (6/12, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
None
Publications
445 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.p12 chr 19 NC_000019.10:g.39252525T>G
GRCh37.p13 chr 19 NC_000019.9:g.39743165T>G
IFNL4 RefSeqGene NG_055295.1:g.1332A>C
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.

Allele: G (allele ID: 227802 )
ClinVar Accession Disease Names Clinical Significance
RCV000211192.1 interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy Drug-Response
RCV000211316.1 peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy Drug-Response
RCV000835188.1 not provided Benign

ALFA Allele Frequency (New)
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 351980 T=0.808472 G=0.191528
European Sub 300656 T=0.802565 G=0.197435
African Sub 11762 T=0.93105 G=0.06895
African Others Sub 414 T=0.957 G=0.043
African American Sub 11348 T=0.93012 G=0.06988
Asian Sub 6968 T=0.9470 G=0.0530
East Asian Sub 4998 T=0.9436 G=0.0564
Other Asian Sub 1970 T=0.9558 G=0.0442
Latin American 1 Sub 1278 T=0.8028 G=0.1972
Latin American 2 Sub 9326 T=0.6974 G=0.3026
South Asian Sub 5236 T=0.8373 G=0.1627
Other Sub 16754 T=0.82404 G=0.17596


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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
ALFA Total Global 185320 T=0.804835 G=0.195165
ALFA European Sub 156324 T=0.804080 G=0.195920
ALFA Other Sub 8678 T=0.8016 G=0.1984
ALFA Latin American 2 Sub 7540 T=0.6905 G=0.3095
ALFA African Sub 6740 T=0.9266 G=0.0734
ALFA South Asian Sub 4916 T=0.8365 G=0.1635
ALFA Latin American 1 Sub 706 T=0.775 G=0.225
ALFA Asian Sub 416 T=0.935 G=0.065
TopMed Global Study-wide 125568 T=0.847461 G=0.152539
The PAGE Study Global Study-wide 78700 T=0.85094 G=0.14906
The PAGE Study AfricanAmerican Sub 32514 T=0.93095 G=0.06905
The PAGE Study Mexican Sub 10810 T=0.67956 G=0.32044
The PAGE Study Asian Sub 8318 T=0.9053 G=0.0947
The PAGE Study PuertoRican Sub 7918 T=0.7909 G=0.2091
The PAGE Study NativeHawaiian Sub 4534 T=0.9199 G=0.0801
The PAGE Study Cuban Sub 4230 T=0.7816 G=0.2184
The PAGE Study Dominican Sub 3828 T=0.8365 G=0.1635
The PAGE Study CentralAmerican Sub 2450 T=0.7110 G=0.2890
The PAGE Study SouthAmerican Sub 1982 T=0.6978 G=0.3022
The PAGE Study NativeAmerican Sub 1260 T=0.8111 G=0.1889
The PAGE Study SouthAsian Sub 856 T=0.860 G=0.140
gnomAD - Genomes Global Study-wide 31374 T=0.85290 G=0.14710
gnomAD - Genomes European Sub 18890 T=0.81863 G=0.18137
gnomAD - Genomes African Sub 8704 T=0.9274 G=0.0726
gnomAD - Genomes East Asian Sub 1558 T=0.9461 G=0.0539
gnomAD - Genomes Other Sub 1088 T=0.8438 G=0.1562
gnomAD - Genomes American Sub 844 T=0.713 G=0.287
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.790 G=0.210
1000Genomes Global Study-wide 5008 T=0.8688 G=0.1312
1000Genomes African Sub 1322 T=0.9576 G=0.0424
1000Genomes East Asian Sub 1008 T=0.9236 G=0.0764
1000Genomes Europe Sub 1006 T=0.8320 G=0.1680
1000Genomes South Asian Sub 978 T=0.833 G=0.167
1000Genomes American Sub 694 T=0.723 G=0.277
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7946 G=0.2054
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8057 G=0.1943
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7991 G=0.2009
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9481 G=0.0519
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8335 G=0.1665
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.945 G=0.055
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.836 G=0.164
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.809 G=0.191
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.775 G=0.225
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.930 G=0.070
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.569 G=0.431
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.94 G=0.06
HapMap Global Study-wide 1890 T=0.8804 G=0.1196
HapMap American Sub 770 T=0.845 G=0.155
HapMap African Sub 690 T=0.930 G=0.070
HapMap Asian Sub 254 T=0.906 G=0.094
HapMap Europe Sub 176 T=0.801 G=0.199
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.802 G=0.198
Chileans Chilean Study-wide 626 T=0.725 G=0.275
Northern Sweden ACPOP Study-wide 600 T=0.872 G=0.128
Qatari Global Study-wide 216 T=0.852 G=0.148
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.921 G=0.079
SGDP_PRJ Global Study-wide 148 T=0.432 G=0.568
The Danish reference pan genome Danish Study-wide 40 T=0.78 G=0.23
Siberian Global Study-wide 12 T=0.50 G=0.50
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 T= G
GRCh38.p12 chr 19 NC_000019.10:g.39252525= NC_000019.10:g.39252525T>G
GRCh37.p13 chr 19 NC_000019.9:g.39743165= NC_000019.9:g.39743165T>G
IFNL4 RefSeqGene NG_055295.1:g.1332= NG_055295.1:g.1332A>C
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#.

120 SubSNP, 19 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12449652 Jul 11, 2003 (116)
2 ABI ss44192664 Mar 14, 2006 (126)
3 ILLUMINA ss66661174 Nov 30, 2006 (127)
4 ILLUMINA ss67871944 Nov 30, 2006 (127)
5 ILLUMINA ss68016642 Nov 30, 2006 (127)
6 ILLUMINA ss70970599 May 26, 2008 (130)
7 ILLUMINA ss71581269 May 17, 2007 (127)
8 ILLUMINA ss75518341 Dec 07, 2007 (129)
9 AFFY ss76465447 Dec 07, 2007 (129)
10 ILLUMINA ss79281525 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss84786739 Dec 15, 2007 (130)
12 HUMANGENOME_JCVI ss96306179 Feb 06, 2009 (130)
13 1000GENOMES ss111372558 Jan 25, 2009 (130)
14 ILLUMINA ss122903099 Dec 01, 2009 (131)
15 ENSEMBL ss136265838 Dec 01, 2009 (131)
16 ILLUMINA ss154469241 Dec 01, 2009 (131)
17 ILLUMINA ss159643761 Dec 01, 2009 (131)
18 ILLUMINA ss160949984 Dec 01, 2009 (131)
19 ILLUMINA ss172398663 Jul 04, 2010 (132)
20 ILLUMINA ss174719076 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss208411054 Jul 04, 2010 (132)
22 1000GENOMES ss228138282 Jul 14, 2010 (132)
23 1000GENOMES ss237676136 Jul 15, 2010 (132)
24 1000GENOMES ss243882613 Jul 15, 2010 (132)
25 GMI ss283208450 May 04, 2012 (137)
26 PJP ss292249558 May 09, 2011 (134)
27 ILLUMINA ss481784914 May 04, 2012 (137)
28 ILLUMINA ss481817209 May 04, 2012 (137)
29 ILLUMINA ss482778596 Sep 08, 2015 (146)
30 ILLUMINA ss485687146 May 04, 2012 (137)
31 EXOME_CHIP ss491546753 May 04, 2012 (137)
32 ILLUMINA ss537555932 Sep 08, 2015 (146)
33 TISHKOFF ss565980841 Apr 25, 2013 (138)
34 SSMP ss661845373 Apr 25, 2013 (138)
35 ILLUMINA ss779050861 Sep 08, 2015 (146)
36 ILLUMINA ss780687039 Sep 08, 2015 (146)
37 ILLUMINA ss783289159 Sep 08, 2015 (146)
38 ILLUMINA ss783360582 Sep 08, 2015 (146)
39 ILLUMINA ss784241887 Sep 08, 2015 (146)
40 ILLUMINA ss825612043 Apr 01, 2015 (144)
41 ILLUMINA ss832550385 Sep 08, 2015 (146)
42 ILLUMINA ss833154601 Jul 13, 2019 (153)
43 ILLUMINA ss834513823 Sep 08, 2015 (146)
44 EVA-GONL ss994296060 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1081901695 Aug 21, 2014 (142)
46 1000GENOMES ss1363150534 Aug 21, 2014 (142)
47 DDI ss1428402837 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1578638595 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1637962007 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1680956040 Apr 01, 2015 (144)
51 EVA_DECODE ss1698349591 Apr 01, 2015 (144)
52 EVA_SVP ss1713662431 Apr 01, 2015 (144)
53 ILLUMINA ss1752284786 Sep 08, 2015 (146)
54 ILLUMINA ss1752284787 Sep 08, 2015 (146)
55 ILLUMINA ss1917937286 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1937789906 Feb 12, 2016 (147)
57 ILLUMINA ss1946535273 Feb 12, 2016 (147)
58 ILLUMINA ss1946535274 Feb 12, 2016 (147)
59 ILLUMINA ss1959863222 Feb 12, 2016 (147)
60 ILLUMINA ss1959863223 Feb 12, 2016 (147)
61 AMU ss1966653269 Feb 12, 2016 (147)
62 GENOMED ss1968643486 Jul 19, 2016 (147)
63 JJLAB ss2029674052 Sep 14, 2016 (149)
64 ILLUMINA ss2094804032 Dec 20, 2016 (150)
65 ILLUMINA ss2095084990 Dec 20, 2016 (150)
66 USC_VALOUEV ss2158214129 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2225739600 Dec 20, 2016 (150)
68 TOPMED ss2391451231 Dec 20, 2016 (150)
69 ILLUMINA ss2633539540 Nov 08, 2017 (151)
70 GRF ss2702824685 Nov 08, 2017 (151)
71 ILLUMINA ss2710882570 Nov 08, 2017 (151)
72 GNOMAD ss2962824520 Nov 08, 2017 (151)
73 AFFY ss2985141452 Nov 08, 2017 (151)
74 AFFY ss2985771910 Nov 08, 2017 (151)
75 SWEGEN ss3017465748 Nov 08, 2017 (151)
76 ILLUMINA ss3021904983 Nov 08, 2017 (151)
77 ILLUMINA ss3021904984 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3028669080 Nov 08, 2017 (151)
79 TOPMED ss3293196343 Nov 08, 2017 (151)
80 CSHL ss3352301451 Nov 08, 2017 (151)
81 ILLUMINA ss3625741613 Oct 12, 2018 (152)
82 ILLUMINA ss3627931544 Oct 12, 2018 (152)
83 ILLUMINA ss3627931545 Oct 12, 2018 (152)
84 ILLUMINA ss3631511038 Oct 12, 2018 (152)
85 ILLUMINA ss3633180182 Oct 12, 2018 (152)
86 ILLUMINA ss3633890580 Oct 12, 2018 (152)
87 ILLUMINA ss3634735056 Oct 12, 2018 (152)
88 ILLUMINA ss3634735057 Oct 12, 2018 (152)
89 ILLUMINA ss3635577385 Oct 12, 2018 (152)
90 ILLUMINA ss3636422601 Oct 12, 2018 (152)
91 ILLUMINA ss3637329123 Oct 12, 2018 (152)
92 ILLUMINA ss3638226968 Oct 12, 2018 (152)
93 ILLUMINA ss3639119746 Oct 12, 2018 (152)
94 ILLUMINA ss3639570456 Oct 12, 2018 (152)
95 ILLUMINA ss3640442364 Oct 12, 2018 (152)
96 ILLUMINA ss3640442365 Oct 12, 2018 (152)
97 ILLUMINA ss3643199923 Oct 12, 2018 (152)
98 ILLUMINA ss3644723819 Oct 12, 2018 (152)
99 ILLUMINA ss3644723820 Oct 12, 2018 (152)
100 URBANLAB ss3650917431 Oct 12, 2018 (152)
101 ILLUMINA ss3652330916 Oct 12, 2018 (152)
102 ILLUMINA ss3652330917 Oct 12, 2018 (152)
103 ILLUMINA ss3653913974 Oct 12, 2018 (152)
104 EGCUT_WGS ss3684234271 Jul 13, 2019 (153)
105 EVA_DECODE ss3702761755 Jul 13, 2019 (153)
106 ILLUMINA ss3725728311 Jul 13, 2019 (153)
107 ACPOP ss3743036020 Jul 13, 2019 (153)
108 ILLUMINA ss3744166659 Jul 13, 2019 (153)
109 ILLUMINA ss3744464425 Jul 13, 2019 (153)
110 ILLUMINA ss3745035075 Jul 13, 2019 (153)
111 ILLUMINA ss3745035076 Jul 13, 2019 (153)
112 EVA ss3756060639 Jul 13, 2019 (153)
113 PAGE_CC ss3772013098 Jul 13, 2019 (153)
114 ILLUMINA ss3772532212 Jul 13, 2019 (153)
115 ILLUMINA ss3772532213 Jul 13, 2019 (153)
116 KHV_HUMAN_GENOMES ss3821308699 Jul 13, 2019 (153)
117 EVA ss3835460735 Apr 27, 2020 (154)
118 HGDP ss3847599454 Apr 27, 2020 (154)
119 SGDP_PRJ ss3888209110 Apr 27, 2020 (154)
120 KRGDB ss3938319898 Apr 27, 2020 (154)
121 1000Genomes NC_000019.9 - 39743165 Oct 12, 2018 (152)
122 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 39743165 Oct 12, 2018 (152)
123 Chileans NC_000019.9 - 39743165 Apr 27, 2020 (154)
124 Genetic variation in the Estonian population NC_000019.9 - 39743165 Oct 12, 2018 (152)
125 The Danish reference pan genome NC_000019.9 - 39743165 Apr 27, 2020 (154)
126 gnomAD - Genomes NC_000019.9 - 39743165 Jul 13, 2019 (153)
127 Genome of the Netherlands Release 5 NC_000019.9 - 39743165 Apr 27, 2020 (154)
128 HGDP-CEPH-db Supplement 1 NC_000019.8 - 44435005 Apr 27, 2020 (154)
129 HapMap NC_000019.10 - 39252525 Apr 27, 2020 (154)
130 KOREAN population from KRGDB NC_000019.9 - 39743165 Apr 27, 2020 (154)
131 Northern Sweden NC_000019.9 - 39743165 Jul 13, 2019 (153)
132 The PAGE Study NC_000019.10 - 39252525 Jul 13, 2019 (153)
133 Qatari NC_000019.9 - 39743165 Apr 27, 2020 (154)
134 SGDP_PRJ NC_000019.9 - 39743165 Apr 27, 2020 (154)
135 Siberian NC_000019.9 - 39743165 Apr 27, 2020 (154)
136 TopMed NC_000019.10 - 39252525 Oct 12, 2018 (152)
137 UK 10K study - Twins NC_000019.9 - 39743165 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000019.9 - 39743165 Jul 13, 2019 (153)
139 dbGaP Population Frequency Project NC_000019.10 - 39252525 Apr 27, 2020 (154)
140 ClinVar RCV000211192.1 Oct 12, 2018 (152)
141 ClinVar RCV000211316.1 Oct 12, 2018 (152)
142 ClinVar RCV000835188.1 Apr 27, 2020 (154)
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)
rs60715659 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
277346, ss111372558, ss208411054, ss283208450, ss292249558, ss481784914, ss825612043, ss1698349591, ss1713662431, ss3639119746, ss3639570456, ss3643199923, ss3847599454 NC_000019.8:44435004:T:G NC_000019.10:39252524:T:G (self)
76557401, 42403218, 205386, 29972519, 4821118, 208984080, 18889848, 45497292, 16320885, 19831828, 40226090, 10730483, 42403218, 9366677, ss228138282, ss237676136, ss243882613, ss481817209, ss482778596, ss485687146, ss491546753, ss537555932, ss565980841, ss661845373, ss779050861, ss780687039, ss783289159, ss783360582, ss784241887, ss832550385, ss833154601, ss834513823, ss994296060, ss1081901695, ss1363150534, ss1428402837, ss1578638595, ss1637962007, ss1680956040, ss1752284786, ss1752284787, ss1917937286, ss1937789906, ss1946535273, ss1946535274, ss1959863222, ss1959863223, ss1966653269, ss1968643486, ss2029674052, ss2094804032, ss2095084990, ss2158214129, ss2391451231, ss2633539540, ss2702824685, ss2710882570, ss2962824520, ss2985141452, ss2985771910, ss3017465748, ss3021904983, ss3021904984, ss3352301451, ss3625741613, ss3627931544, ss3627931545, ss3631511038, ss3633180182, ss3633890580, ss3634735056, ss3634735057, ss3635577385, ss3636422601, ss3637329123, ss3638226968, ss3640442364, ss3640442365, ss3644723819, ss3644723820, ss3652330916, ss3652330917, ss3653913974, ss3684234271, ss3743036020, ss3744166659, ss3744464425, ss3745035075, ss3745035076, ss3756060639, ss3772532212, ss3772532213, ss3835460735, ss3888209110, ss3938319898 NC_000019.9:39743164:T:G NC_000019.10:39252524:T:G (self)
RCV000211192.1, RCV000211316.1, RCV000835188.1, 1695573, 1234567, 181075873, 914221806, ss2225739600, ss3028669080, ss3293196343, ss3650917431, ss3702761755, ss3725728311, ss3772013098, ss3821308699 NC_000019.10:39252524:T:G NC_000019.10:39252524:T:G (self)
ss12449652 NT_011109.15:12011382:T:G NC_000019.10:39252524:T:G (self)
ss44192664, ss66661174, ss67871944, ss68016642, ss70970599, ss71581269, ss75518341, ss76465447, ss79281525, ss84786739, ss96306179, ss122903099, ss136265838, ss154469241, ss159643761, ss160949984, ss172398663, ss174719076 NT_011109.16:12011382:T:G NC_000019.10:39252524:T:G (self)
Help

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

445 citations for rs8099917
PMID Title Author Year Journal
19749757 Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C. Tanaka Y et al. 2009 Nature genetics
19749758 IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. Suppiah V et al. 2009 Nature genetics
20060832 Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Rauch A et al. 2010 Gastroenterology
20184973 Interleukin-28b: a key piece of the hepatitis C virus recovery puzzle. Thio CL et al. 2010 Gastroenterology
20434452 Hepatic ISG expression is associated with genetic variation in interleukin 28B and the outcome of IFN therapy for chronic hepatitis C. Honda M et al. 2010 Gastroenterology
20576307 Common variation of IL28 affects gamma-GTP levels and inflammation of the liver in chronically infected hepatitis C virus patients. Abe H et al. 2010 Journal of hepatology
20648473 Amino acid substitution in hepatitis C virus core region and genetic variation near the interleukin 28B gene predict viral response to telaprevir with peginterferon and ribavirin. Akuta N et al. 2010 Hepatology (Baltimore, Md.)
20708617 Variants in IL28B in liver recipients and donors correlate with response to peg-interferon and ribavirin therapy for recurrent hepatitis C. Fukuhara T et al. 2010 Gastroenterology
20728570 Impact of IL28B genotype on the early and sustained virologic response in treatment-naïve patients with chronic hepatitis C. Stättermayer AF et al. 2011 Clinical gastroenterology and hepatology
20729732 Host genetic basis for hepatitis C virus clearance: a role for blood collection centers. Selvarajah S et al. 2010 Current opinion in hematology
20803561 Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C virus infection. Grebely J et al. 2010 Hepatology (Baltimore, Md.)
20931559 IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. Urban TJ et al. 2010 Hepatology (Baltimore, Md.)
20950615 IL28B and the control of hepatitis C virus infection. Balagopal A et al. 2010 Gastroenterology
21048934 IL28B SNP rs8099917 is strongly associated with pegylated interferon-α and ribavirin therapy treatment failure in HCV/HIV-1 coinfected patients. Aparicio E et al. 2010 PloS one
21068134 HCV substitutions and IL28B polymorphisms on outcome of peg-interferon plus ribavirin combination therapy. Hayes CN et al. 2011 Gut
21080244 The IL-28 genotype: how it will affect the care of patients with hepatitis C virus infection. Pearlman BL et al. 2011 Current gastroenterology reports
21112657 Importance of IL28B gene polymorphisms in hepatitis C virus genotype 2 and 3 infected patients. Sarrazin C et al. 2011 Journal of hepatology
21112660 Predictive value of the IL28B polymorphism on the effect of interferon therapy in chronic hepatitis C patients with genotypes 2a and 2b. Kawaoka T et al. 2011 Journal of hepatology
21145800 IL28 variation affects expression of interferon stimulated genes and peg-interferon and ribavirin therapy. Abe H et al. 2011 Journal of hepatology
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28874741 A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma. Chinnaswamy S et al. 2017 Scientific reports
28928439 Polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with chronic hepatitis C-related hepatocellular carcinoma. Hai H et al. 2017 Scientific reports
28962822 High frequencies of a favorable IL-28B rs8099917 polymorphism and the clinical implications in patients with HCV in one multiracial area of Taiwan. Cheng CH et al. 2017 The Kaohsiung journal of medical sciences
29022122 Association of interferon lambda polymorphisms with elevated baseline viral loads in chronic hepatitis C virus genotype 6 infection. Nguyen LT et al. 2018 Archives of virology
29040985 Serum IFN-λ3 Levels Correlate with Serum Hepatitis C Virus RNA Levels in Symptomatic Patients with Acute Hepatitis C. Imoto S et al. 2017 Digestive diseases (Basel, Switzerland)
29055988 [Association of HLA-DQ and IFNL4 polymorphisms with hepatitis B virus infection and clearance]. Chen H et al. 2017 Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
29062905 The impact of the recipient and donor interferon lambda-3 polymorphism on the course of HCV infection following liver transplantation. Wieczorek-Godlewska R et al. 2017 Clinical and experimental hepatology
29095252 Association of interleukin-28B polymorphisms with platelet count and liver function recovery after liver transplant. Li Y et al. 2017 Medicine
29104462 Association of <i>IFNL3</i> Genotype with Hepatic Steatosis in Chronic Hepatitis C Patients Treated with Peginterferon and Ribavirin Combination Therapy. Nakamoto S et al. 2017 International journal of medical sciences
29129607 Polymorphisms in HLA-C and KIR alleles are not associated with HAM/TSP risk in HTLV-1-infected subjects. Assone T et al. 2018 Virus research
29130827 Association of Single-Nucleotide Polymorphisms in Immune-Related Genes with Development of Dengue Hemorrhagic Fever in a Mexican Population. Vargas-Castillo AB et al. 2018 Viral immunology
29226133 Circulating Interferon-<i>λ</i>3, Responsiveness to HBV Vaccination, and HBV/HCV Infections in Haemodialysis Patients. Grzegorzewska AE et al. 2017 BioMed research international
29264884 Distribution of polymorphisms rs12979860, rs8099917 and rs12980275 IL28B in patients with chronic hepatitis C. Wysocka-Leszczyńska J et al. 2017 Advances in clinical and experimental medicine
29285382 <i>IL18</i> rs360719 A&gt;G, <i>IL18R1</i> rs13015714 G&gt;T, <i>IL18RAP</i> rs917997 C&gt;T and <i>IL28B</i> rs8099917 T&gt;G polymorphisms and risk of gastric cardiac adenocarcinoma. Yin J et al. 2017 Molecular and clinical oncology
29302390 Association between genetic polymorphisms of the <i>IL28B</i> gene and leukomonocyte in Chinese hepatitis B virus-infected individuals. Song Y et al. 2017 PeerJ
29340806 Distribution of IL28B and IL10 polymorphisms as genetic predictors of treatment response in Pakistani HCV genotype 3 patients. Naeemi H et al. 2018 Archives of virology
29369421 Genetic variation in IL28B (IFNL3) and response to interferon-alpha treatment in myeloproliferative neoplasms. Lindgren M et al. 2018 European journal of haematology
29404438 A global perspective on hepatitis B-related single nucleotide polymorphisms and evolution during human migration. Tai DI et al. 2017 Hepatology communications
29405153 Effect of Interleukin-28B polymorphism on Interleukin-28 expression and immunological recovery amongst HIV-1-infected individuals following antiretroviral therapy. Srinidhi BV et al. 2017 Indian journal of medical microbiology
29429413 A case of a patient infected with a hepatitis C virus genotype 3a multidrug resistant variant in Pakistan. Zia A et al. 2018 Infectious diseases of poverty
29499724 IL28B gene polymorphism rs12979860, but not rs8099917, contributes to the occurrence of chronic HCV infection in Uruguayan patients. Echeverría N et al. 2018 Virology journal
29504692 Efficacy of ledipasvir/sofosbuvir with or without ribavirin for 12 weeks in genotype 1b HCV patients previously treated with a nonstructural protein 5A inhibitor-containing regimen. Ikeda H et al. 2018 Hepatology research
29517696 Role of IL-28B genetic variants in HCV-related liver disease severity in patients with different viral genotypes. Huang CI et al. 2018 Medicine
29562888 IFNΛ3/4 locus polymorphisms and IFNΛ3 circulating levels are associated with COPD severity and outcomes. Egli A et al. 2018 BMC pulmonary medicine
29686997 Identification of IL-28B Genotype Modification in Hepatocytes after Living Donor Liver Transplantation by Laser Capture Microdissection and Pyrosequencing Analysis. Chiu KW et al. 2018 BioMed research international
29739095 Distribution of IL28B rs12979860 and rs8099917 Genotypes in Patients with Chronic Hepatitis C Virus Infection in Tianjin, China. Qiao K et al. 2018 Clinical laboratory
29755645 Hepatic steatosis in chronic hepatitis B: a study of metabolic and genetic factors. Baclig MO et al. 2018 International journal of molecular epidemiology and genetics
29866105 Polymorphisms in the Th17 cell-related RORC gene are associated with spontaneous clearance of HCV in Chinese women. Xie Z et al. 2018 BMC infectious diseases
29888255 Hepatitis C Virus-Infected Responders and Relapsers to Treatment Show Similar Genetic Profiles of <i>IL28B</i> and <i>IL10</i> Single Nucleotide Polymorphisms. de Souza SL et al. 2018 BioMed research international
29910570 The Role of Biochemical Variations and Genotype Testing in Determining the Virological Response of Patients Infected with Hepatitis C Virus. Shoukat A et al. 2018 Journal of global infectious diseases
29935858 Correlations of indoleamine 2,3-dioxygenase, interferon-λ3, and anti-HBs antibodies in hemodialysis patients. Grzegorzewska AE et al. 2018 Vaccine
30016335 No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B. Wei L et al. 2018 PloS one
30077763 IL28B, IL29 and micro-RNA 548 in subacute sclerosing panencephalitis as a rare disease. Cakmak Genc G et al. 2018 Gene
30157968 Interferon-λ3/4 genetic variants and interferon-λ3 serum levels are biomarkers of lupus nephritis and disease activity in Taiwanese. Chen JY et al. 2018 Arthritis research & therapy
30234607 Interferon lambda 3/4 polymorphisms are associated with AIDS-related Kaposi's sarcoma. Bibert S et al. 2018 AIDS (London, England)
30344298 Impact of the Uridine⁻Cytidine Kinase Like-1 Protein and IL28B rs12979860 and rs8099917 SNPs on the Development of Hepatocellular Carcinoma in Cirrhotic Chronic Hepatitis C Patients-A Pilot Study. Buivydiene A et al. 2018 Medicina (Kaunas, Lithuania)
30381417 Complex Association of Virus- and Host-Related Factors with Hepatocellular Carcinoma Rate following Hepatitis C Virus Clearance. Akuta N et al. 2019 Journal of clinical microbiology
30402710 Interleukin 28A.rs12980602 and interleukin 28B.rs8103142 genotypes could be protective against HCV infection among Egyptians. Zakaria ZA et al. 2019 Immunologic research
30431653 Polymorphism in interferon λ3/interleukin-28B gene and risk to noncirrhotic chronic hepatitis C genotype 3 virus infection and its effect on the response to combined daclatasvir and sofosbuvir therapy. Khan AJ et al. 2019 Journal of medical virology
30623518 Association of serum interferon-λ3 levels with hepatocarcinogenesis in chronic hepatitis C patients treated with direct-acting antiviral agents. Inoue-Shinomiya E et al. 2019 Hepatology research
30695542 [FREQUENCY OF OCCURRENCE OF POLYMORPHIC VARIANTS OF IL28B GENE AND GENOTYPES OF HEPATITIS C VIRUS IN POPULATION OF YAKUTIA: CLINICAL OUTCOMES]. Semenov SI et al. 2017 Zhurnal mikrobiologii, epidemiologii i immunobiologii
30775813 Occult hepatitis C virus infection in patients with beta-thalassemia major: Is it a neglected and unexplained phenomenon? Ayadi A et al. 2019 Journal of cellular biochemistry
30821879 Host genetic factors and clinical parameters influencing the occult hepatitis C virus infection in patients on chronic hemodialysis: Is it still a controversial infection? Ayadi A et al. 2019 Hepatology research
30988680 The interleukin 28B gene polymorphism, rs8099917, in patients with chronic hepatitis C and response to the treatment with pegylated interferon and ribavirin. Kalantari H et al. 2019 Journal of research in medical sciences
31060998 IL-28B genetic variation, gender, age, jaundice, hepatitis C virus genotype, and hepatitis B virus and HIV co-infection in spontaneous clearance of hepatitis C virus. Fedorchenko SV et al. 2019 The Turkish journal of gastroenterology
31144350 IL28B gene polymorphism is correlated with changes in low-density lipoprotein cholesterol levels after clearance of hepatitis C virus using direct-acting antiviral treatment. Morihara D et al. 2019 Journal of gastroenterology and hepatology
31196204 Association of polymorphisms in inflammatory cytokines encoding genes with severe cases of influenza A/H1N1 and B in an Iranian population. Keshavarz M et al. 2019 Virology journal
31201901 The impact of IFNL3 genotype on interferon treatment outcome in patients chronically infected with hepatitis B virus: A meta-analysis. Zhao Z et al. 2019 Microbial pathogenesis
31227111
31396258 Host Genetics of Cytomegalovirus Pathogenesis. Sezgin E et al. 2019 Frontiers in genetics
31475028 Host Genetic Determinants of Hepatitis B Virus Infection. Zhang Z et al. 2019 Frontiers in genetics
31485460 Immunomodulation of CXCL10 Secretion by Hepatitis C Virus: Could CXCL10 Be a Prognostic Marker of Chronic Hepatitis C? Ferrari SM et al. 2019 Journal of immunology research
31488196 Host susceptibility to severe influenza A virus infection. Clohisey S et al. 2019 Critical care (London, England)
31568008 The influence of interleukin 28B polymorphisms on the risk of hepatocellular carcinoma among patients with HBV or HCV infection: An updated meta-analysis. Qin S et al. 2019 Medicine
31642723 Single nucleotide polymorphisms rs12979860 and rs8099917 in IL-28B and spontaneous clearance of hepatitis C genotype 4. Youssef AR et al. 2020 British journal of biomedical science
31645053 Correlation between female sex, IL28B genotype, and the clinical severity of bronchiolitis in pediatric patients. Astudillo P et al. 2020 Pediatric research
31793339 PNPLA3 and IL 28B signature for predicting susceptibility to chronic hepatitis C infection and fibrosis progression. Youssef SS et al. 2019 Archives of physiology and biochemistry
31803800 <i>IFNL4</i> haplotype, linkage disequilibrium and their influence on virological response to hepatitis C virus infection in Indian population. Roy N et al. 2019 Virusdisease
31838260 Occult hepatitis C virus infection in hemophilia patients and its correlation with interferon lambda 3 and 4 polymorphisms. Nafari AH et al. 2020 Infection, genetics and evolution
31999635 Impact of IL28B genetic variant's and viral genotype on treatment outcome of hepatitis C infected patients. Khan MS et al. 2018 Journal of infection in developing countries
32053513 Elevated serum levels of adiponectin and interlukin-28B after IFN/RIB therapy in hepatitis C virus-infected patients. Sadeghi K et al. 2019 Journal of infection in developing countries
32058988 IL-28B genotypes as predictors of long-term outcome in patients with hepatitis C-related severe liver injury. Jordovic J et al. 2019 Journal of infection in developing countries
32180251 IL-28B variant as a predictor in patients with advanced hepatocellular carcinoma treated with hepatic arterial infusion chemotherapy. Terashima T et al. 2020 Journal of gastroenterology and hepatology
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
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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.post565+e32b82c