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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs7849191

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr9:4988761 (GRCh38.p7) 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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.48993 (61519/125568, TOPMED)
C=0.4921 (15186/30860, GnomAD)
C=0.485 (2430/5008, 1000G) (+ 2 more)
T=0.403 (1554/3854, ALSPAC)
T=0.397 (1471/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
JAK2 : Intron Variant
Publications
6 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.p7 chr 9 NC_000009.12:g.4988761C>T
GRCh37.p13 chr 9 NC_000009.11:g.4988761C>T
JAK2 RefSeqGene (LRG_612) NG_009904.1:g.8517C>T
Gene: JAK2, Janus kinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
JAK2 transcript variant 2 NM_001322194.1:c. N/A Intron Variant
JAK2 transcript variant 3 NM_001322195.1:c. N/A Intron Variant
JAK2 transcript variant 4 NM_001322196.1:c. N/A Intron Variant
JAK2 transcript variant 6 NM_001322198.1:c. N/A Intron Variant
JAK2 transcript variant 7 NM_001322199.1:c. N/A Intron Variant
JAK2 transcript variant 1 NM_004972.3:c. N/A Intron Variant
JAK2 transcript variant 5 NM_001322204.1:c. N/A Genic 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
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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
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.48993 T=0.51007
The Genome Aggregation Database Global Study-wide 30860 C=0.4921 T=0.5079
The Genome Aggregation Database European Sub 18442 C=0.5968 T=0.4032
The Genome Aggregation Database African Sub 8698 C=0.224 T=0.776
The Genome Aggregation Database East Asian Sub 1608 C=0.596 T=0.404
The Genome Aggregation Database Other Sub 974 C=0.60 T=0.40
The Genome Aggregation Database American Sub 836 C=0.58 T=0.42
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.67 T=0.33
1000Genomes Global Study-wide 5008 C=0.485 T=0.515
1000Genomes African Sub 1322 C=0.159 T=0.841
1000Genomes East Asian Sub 1008 C=0.599 T=0.401
1000Genomes Europe Sub 1006 C=0.612 T=0.388
1000Genomes South Asian Sub 978 C=0.59 T=0.41
1000Genomes American Sub 694 C=0.61 T=0.39
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.597 T=0.403
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.603 T=0.397
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 C= T Note
GRCh38.p7 chr 9 NC_000009.12:g.4988761C= NC_000009.12:g.4988761C>T
GRCh37.p13 chr 9 NC_000009.11:g.4988761C= NC_000009.11:g.4988761C>T
JAK2 RefSeqGene (LRG_612) NG_009904.1:g.8517C= NG_009904.1:g.8517C>T
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#.

5 Frequency, 73 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11976929 Jul 11, 2003 (116)
2 SC_SNP ss15542764 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19783372 Feb 27, 2004 (120)
4 ABI ss43943633 Mar 15, 2006 (126)
5 ILLUMINA ss66660322 Nov 30, 2006 (127)
6 ILLUMINA ss67839722 Nov 30, 2006 (127)
7 ILLUMINA ss67996768 Nov 30, 2006 (127)
8 PERLEGEN ss69280123 May 17, 2007 (127)
9 ILLUMINA ss70954381 May 25, 2008 (130)
10 ILLUMINA ss71561324 May 17, 2007 (127)
11 ILLUMINA ss75536184 Dec 06, 2007 (129)
12 HGSV ss78113481 Dec 06, 2007 (129)
13 ILLUMINA ss79272571 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss84739051 Dec 15, 2007 (130)
15 HUMANGENOME_JCVI ss97773383 Feb 05, 2009 (130)
16 BGI ss104591970 Dec 01, 2009 (131)
17 1000GENOMES ss108544785 Jan 23, 2009 (130)
18 1000GENOMES ss114059455 Jan 25, 2009 (130)
19 ILLUMINA-UK ss115679342 Feb 14, 2009 (130)
20 ILLUMINA ss122849643 Dec 01, 2009 (131)
21 ENSEMBL ss144111660 Dec 01, 2009 (131)
22 ILLUMINA ss154452057 Dec 01, 2009 (131)
23 GMI ss157116094 Dec 01, 2009 (131)
24 ILLUMINA ss159626789 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss163711736 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss164367524 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss166067968 Jul 04, 2010 (132)
28 ILLUMINA ss172358909 Jul 04, 2010 (132)
29 ILLUMINA ss174583145 Jul 04, 2010 (132)
30 BUSHMAN ss200023384 Jul 04, 2010 (132)
31 1000GENOMES ss224091236 Jul 14, 2010 (132)
32 1000GENOMES ss234703781 Jul 15, 2010 (132)
33 1000GENOMES ss241502073 Jul 15, 2010 (132)
34 ILLUMINA ss244311200 Jul 04, 2010 (132)
35 GMI ss280081491 May 04, 2012 (137)
36 PJP ss294277077 May 09, 2011 (134)
37 ILLUMINA ss537522321 Sep 08, 2015 (146)
38 TISHKOFF ss561200594 Apr 25, 2013 (138)
39 SSMP ss655629544 Apr 25, 2013 (138)
40 ILLUMINA ss825603089 Apr 01, 2015 (144)
41 EVA-GONL ss986251964 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1076065456 Aug 21, 2014 (142)
43 1000GENOMES ss1332670122 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397545569 Sep 08, 2015 (146)
45 DDI ss1431732556 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1582963186 Apr 01, 2015 (144)
47 EVA_DECODE ss1595876238 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1622132780 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1665126813 Apr 01, 2015 (144)
50 EVA_SVP ss1713086443 Apr 01, 2015 (144)
51 HAMMER_LAB ss1805853743 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1929531532 Feb 12, 2016 (147)
53 GENOMED ss1971141015 Jul 19, 2016 (147)
54 JJLAB ss2025473135 Sep 14, 2016 (149)
55 ILLUMINA ss2094993735 Dec 20, 2016 (150)
56 ILLUMINA ss2095217883 Dec 20, 2016 (150)
57 ILLUMINA ss2095217884 Dec 20, 2016 (150)
58 USC_VALOUEV ss2153703182 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2308924857 Dec 20, 2016 (150)
60 TOPMED ss2478921612 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2627212686 Nov 08, 2017 (151)
62 GRF ss2709499204 Nov 08, 2017 (151)
63 GNOMAD ss2874784125 Nov 08, 2017 (151)
64 AFFY ss2986098824 Nov 08, 2017 (151)
65 SWEGEN ss3004297082 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3026524946 Nov 08, 2017 (151)
67 CSHL ss3348496983 Nov 08, 2017 (151)
68 TOPMED ss3580541228 Nov 08, 2017 (151)
69 ILLUMINA ss3630201501 Jul 20, 2018 (151)
70 ILLUMINA ss3638797362 Jul 20, 2018 (151)
71 ILLUMINA ss3639402396 Jul 20, 2018 (151)
72 ILLUMINA ss3639733016 Jul 20, 2018 (151)
73 ILLUMINA ss3643725503 Jul 20, 2018 (151)
74 1000Genomes NC_000009.11 - 4988761 Jul 20, 2018 (151)
75 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 4988761 Jul 20, 2018 (151)
76 The Genome Aggregation Database NC_000009.11 - 4988761 Jul 20, 2018 (151)
77 Trans-Omics for Precision Medicine NC_000009.12 - 4988761 Jul 20, 2018 (151)
78 UK 10K study - Twins NC_000009.11 - 4988761 Jul 20, 2018 (151)
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)
rs59254669 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss78113481, ss3639402396, ss3639733016 NC_000009.9:4978760:C= NC_000009.12:4988760:C= (self)
ss108544785, ss114059455, ss115679342, ss163711736, ss164367524, ss166067968, ss200023384, ss280081491, ss294277077, ss825603089, ss1397545569, ss1595876238, ss1713086443, ss2094993735, ss3643725503 NC_000009.10:4978760:C= NC_000009.12:4988760:C= (self)
44891914, 24981081, 215411880, 24981081, ss224091236, ss234703781, ss241502073, ss537522321, ss561200594, ss655629544, ss986251964, ss1076065456, ss1332670122, ss1431732556, ss1582963186, ss1622132780, ss1665126813, ss1805853743, ss1929531532, ss1971141015, ss2025473135, ss2095217883, ss2095217884, ss2153703182, ss2478921612, ss2627212686, ss2709499204, ss2874784125, ss2986098824, ss3004297082, ss3348496983, ss3630201501, ss3638797362 NC_000009.11:4988760:C= NC_000009.12:4988760:C= (self)
404712595, ss2308924857, ss3026524946, ss3580541228 NC_000009.12:4988760:C= NC_000009.12:4988760:C= (self)
ss11976929 NT_008413.15:4978760:C= NC_000009.12:4988760:C= (self)
ss15542764, ss19783372 NT_008413.16:4978760:C= NC_000009.12:4988760:C= (self)
ss43943633, ss66660322, ss67839722, ss67996768, ss69280123, ss70954381, ss71561324, ss75536184, ss79272571, ss84739051, ss97773383, ss104591970, ss122849643, ss144111660, ss154452057, ss157116094, ss159626789, ss172358909, ss174583145, ss244311200 NT_008413.18:4978760:C= NC_000009.12:4988760:C= (self)
ss78113481, ss3639402396, ss3639733016 NC_000009.9:4978760:C>T NC_000009.12:4988760:C>T (self)
ss108544785, ss114059455, ss115679342, ss163711736, ss164367524, ss166067968, ss200023384, ss280081491, ss294277077, ss825603089, ss1397545569, ss1595876238, ss1713086443, ss2094993735, ss3643725503 NC_000009.10:4978760:C>T NC_000009.12:4988760:C>T (self)
44891914, 24981081, 215411880, 24981081, ss224091236, ss234703781, ss241502073, ss537522321, ss561200594, ss655629544, ss986251964, ss1076065456, ss1332670122, ss1431732556, ss1582963186, ss1622132780, ss1665126813, ss1805853743, ss1929531532, ss1971141015, ss2025473135, ss2095217883, ss2095217884, ss2153703182, ss2478921612, ss2627212686, ss2709499204, ss2874784125, ss2986098824, ss3004297082, ss3348496983, ss3630201501, ss3638797362 NC_000009.11:4988760:C>T NC_000009.12:4988760:C>T (self)
404712595, ss2308924857, ss3026524946, ss3580541228 NC_000009.12:4988760:C>T NC_000009.12:4988760:C>T (self)
ss11976929 NT_008413.15:4978760:C>T NC_000009.12:4988760:C>T (self)
ss15542764, ss19783372 NT_008413.16:4978760:C>T NC_000009.12:4988760:C>T (self)
ss43943633, ss66660322, ss67839722, ss67996768, ss69280123, ss70954381, ss71561324, ss75536184, ss79272571, ss84739051, ss97773383, ss104591970, ss122849643, ss144111660, ss154452057, ss157116094, ss159626789, ss172358909, ss174583145, ss244311200 NT_008413.18:4978760:C>T NC_000009.12:4988760:C>T (self)
Help

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

6 citations for rs7849191
PMID Title Author Year Journal
18239666 Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile. Ge D et al. 2008 Obesity (Silver Spring, Md.)
19068216 Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Anderson CA et al. 2009 Gastroenterology
22185674 Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders. Penas-Steinhardt A et al. 2011 BMC medical genetics
22768290 Single nucleotide polymorphism (SNP)-based loss of heterozygosity (LOH) testing by real time PCR in patients suspect of myeloproliferative disease. Huijsmans CJ et al. 2012 PloS one
25526816 Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study. Koh SP et al. 2014 BMC genetics
27774581 A preliminary study of new single polymorphisms in the T helper type 17 pathway for psoriasis in the Korean population. Kim SY et al. 2017 Clinical and experimental immunology

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: 0.1.4.post833+d3ba21e