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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.

rs16139

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:24285260 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.032319 (9868/305334, ALFA)
C=0.021909 (5799/264690, TOPMED)
C=0.027107 (3801/140220, GnomAD) (+ 20 more)
C=0.01144 (900/78702, PAGE_STUDY)
C=0.0170 (85/5008, 1000G)
C=0.0645 (289/4480, Estonian)
C=0.0304 (117/3854, ALSPAC)
C=0.0313 (116/3708, TWINSUK)
C=0.0007 (2/2920, KOREAN)
C=0.0005 (1/1832, Korea1K)
C=0.0273 (31/1136, Daghestan)
C=0.043 (43/998, GoNL)
C=0.003 (2/792, PRJEB37584)
C=0.050 (30/600, NorthernSweden)
C=0.019 (10/534, MGP)
C=0.025 (8/326, HapMap)
C=0.076 (23/304, FINRISK)
C=0.032 (7/216, Qatari)
C=0.03 (1/40, GENOME_DK)
T=0.50 (7/14, SGDP_PRJ)
C=0.50 (7/14, SGDP_PRJ)
T=0.5 (3/6, Siberian)
C=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NPY : Missense Variant
LOC107986777 : Intron Variant
Publications
40 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 7 NC_000007.14:g.24285260T>A
GRCh38.p13 chr 7 NC_000007.14:g.24285260T>C
GRCh37.p13 chr 7 NC_000007.13:g.24324879T>A
GRCh37.p13 chr 7 NC_000007.13:g.24324879T>C
NPY RefSeqGene NG_016148.1:g.6073T>A
NPY RefSeqGene NG_016148.1:g.6073T>C
Gene: NPY, neuropeptide Y (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NPY transcript NM_000905.4:c.20T>A L [CTG] > Q [CAG] Coding Sequence Variant
pro-neuropeptide Y preproprotein NP_000896.1:p.Leu7Gln L (Leu) > Q (Gln) Missense Variant
NPY transcript NM_000905.4:c.20T>C L [CTG] > P [CCG] Coding Sequence Variant
pro-neuropeptide Y preproprotein NP_000896.1:p.Leu7Pro L (Leu) > P (Pro) Missense Variant
Gene: LOC107986777, uncharacterized LOC107986777 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107986777 transcript variant X3 XR_001745121.1:n. N/A Intron Variant
LOC107986777 transcript variant X6 XR_001745122.1:n. N/A Intron Variant
LOC107986777 transcript variant X4 XR_001745123.1:n. N/A Intron Variant
LOC107986777 transcript variant X5 XR_001745124.1:n. N/A Intron Variant
LOC107986777 transcript variant X7 XR_001745125.1:n. N/A Intron Variant
LOC107986777 transcript variant X8 XR_001745126.1:n. N/A Intron Variant
LOC107986777 transcript variant X10 XR_001745127.1:n. N/A Intron Variant
LOC107986777 transcript variant X9 XR_001745129.1:n. N/A Intron Variant
LOC107986777 transcript variant X12 XR_001745130.1:n. N/A Intron Variant
LOC107986777 transcript variant X13 XR_001745131.1:n. N/A Intron Variant
LOC107986777 transcript variant X14 XR_001745132.1:n. N/A Intron Variant
LOC107986777 transcript variant X11 XR_001745128.1:n. 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.

Allele: C (allele ID: 29063 )
ClinVar Accession Disease Names Clinical Significance
RCV000015068.2 NEUROPEPTIDE Y POLYMORPHISM 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 305334 T=0.967681 C=0.032319
European Sub 260210 T=0.964967 C=0.035033
African Sub 8672 T=0.9926 C=0.0074
African Others Sub 304 T=0.997 C=0.003
African American Sub 8368 T=0.9925 C=0.0075
Asian Sub 6866 T=0.9997 C=0.0003
East Asian Sub 4912 T=0.9998 C=0.0002
Other Asian Sub 1954 T=0.9995 C=0.0005
Latin American 1 Sub 1396 T=0.9864 C=0.0136
Latin American 2 Sub 6654 T=0.9839 C=0.0161
South Asian Sub 368 T=0.965 C=0.035
Other Sub 21168 T=0.97416 C=0.02584


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
Allele Frequency Aggregator Total Global 305334 T=0.967681 C=0.032319
Allele Frequency Aggregator European Sub 260210 T=0.964967 C=0.035033
Allele Frequency Aggregator Other Sub 21168 T=0.97416 C=0.02584
Allele Frequency Aggregator African Sub 8672 T=0.9926 C=0.0074
Allele Frequency Aggregator Asian Sub 6866 T=0.9997 C=0.0003
Allele Frequency Aggregator Latin American 2 Sub 6654 T=0.9839 C=0.0161
Allele Frequency Aggregator Latin American 1 Sub 1396 T=0.9864 C=0.0136
Allele Frequency Aggregator South Asian Sub 368 T=0.965 C=0.035
TopMed Global Study-wide 264690 T=0.978091 C=0.021909
gnomAD - Genomes Global Study-wide 140220 T=0.972893 C=0.027107
gnomAD - Genomes European Sub 75938 T=0.95873 C=0.04127
gnomAD - Genomes African Sub 42020 T=0.99331 C=0.00669
gnomAD - Genomes American Sub 13658 T=0.97877 C=0.02123
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9889 C=0.0111
gnomAD - Genomes East Asian Sub 3130 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2152 T=0.9730 C=0.0270
The PAGE Study Global Study-wide 78702 T=0.98856 C=0.01144
The PAGE Study AfricanAmerican Sub 32516 T=0.99243 C=0.00757
The PAGE Study Mexican Sub 10810 T=0.98196 C=0.01804
The PAGE Study Asian Sub 8318 T=0.9998 C=0.0002
The PAGE Study PuertoRican Sub 7918 T=0.9814 C=0.0186
The PAGE Study NativeHawaiian Sub 4534 T=0.9896 C=0.0104
The PAGE Study Cuban Sub 4230 T=0.9754 C=0.0246
The PAGE Study Dominican Sub 3828 T=0.9882 C=0.0118
The PAGE Study CentralAmerican Sub 2450 T=0.9910 C=0.0090
The PAGE Study SouthAmerican Sub 1982 T=0.9834 C=0.0166
The PAGE Study NativeAmerican Sub 1260 T=0.9722 C=0.0278
The PAGE Study SouthAsian Sub 856 T=0.972 C=0.028
1000Genomes Global Study-wide 5008 T=0.9830 C=0.0170
1000Genomes African Sub 1322 T=0.9977 C=0.0023
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9602 C=0.0398
1000Genomes South Asian Sub 978 T=0.964 C=0.036
1000Genomes American Sub 694 T=0.990 C=0.010
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9355 C=0.0645
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9696 C=0.0304
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9687 C=0.0313
KOREAN population from KRGDB KOREAN Study-wide 2920 T=0.9993 C=0.0007
Korean Genome Project KOREAN Study-wide 1832 T=0.9995 C=0.0005
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.9727 C=0.0273
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.971 C=0.029
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.993 C=0.007
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.992 C=0.008
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.972 C=0.028
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.94 C=0.06
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.94 C=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.957 C=0.043
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.997 C=0.003
CNV burdens in cranial meningiomas CRM Sub 792 T=0.997 C=0.003
Northern Sweden ACPOP Study-wide 600 T=0.950 C=0.050
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.981 C=0.019
HapMap Global Study-wide 326 T=0.975 C=0.025
HapMap American Sub 120 T=0.933 C=0.067
HapMap African Sub 118 T=1.000 C=0.000
HapMap Asian Sub 88 T=1.00 C=0.00
FINRISK Finnish from FINRISK project Study-wide 304 T=0.924 C=0.076
Qatari Global Study-wide 216 T=0.968 C=0.032
The Danish reference pan genome Danish Study-wide 40 T=0.97 C=0.03
SGDP_PRJ Global Study-wide 14 T=0.50 C=0.50
Siberian Global Study-wide 6 T=0.5 C=0.5
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= A C
GRCh38.p13 chr 7 NC_000007.14:g.24285260= NC_000007.14:g.24285260T>A NC_000007.14:g.24285260T>C
GRCh37.p13 chr 7 NC_000007.13:g.24324879= NC_000007.13:g.24324879T>A NC_000007.13:g.24324879T>C
NPY RefSeqGene NG_016148.1:g.6073= NG_016148.1:g.6073T>A NG_016148.1:g.6073T>C
NPY transcript NM_000905.4:c.20= NM_000905.4:c.20T>A NM_000905.4:c.20T>C
NPY transcript NM_000905.3:c.20= NM_000905.3:c.20T>A NM_000905.3:c.20T>C
pro-neuropeptide Y preproprotein NP_000896.1:p.Leu7= NP_000896.1:p.Leu7Gln NP_000896.1:p.Leu7Pro
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#.

107 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ACEVAN ss18563 Sep 19, 2000 (54)
2 ACEVAN ss4253009 Jan 04, 2002 (102)
3 PERLEGEN ss24434107 Sep 20, 2004 (123)
4 APPLERA_GI ss48427983 Mar 15, 2006 (126)
5 PERLEGEN ss69009441 May 17, 2007 (127)
6 AFFY ss74806725 Aug 16, 2007 (128)
7 ILLUMINA ss74876984 Dec 06, 2007 (129)
8 SI_EXO ss76888875 Dec 06, 2007 (129)
9 SEATTLESEQ ss159714453 Dec 01, 2009 (131)
10 ILLUMINA ss160378839 Dec 01, 2009 (131)
11 ILLUMINA ss172602276 Jul 04, 2010 (132)
12 1000GENOMES ss233892178 Jul 15, 2010 (132)
13 ILLUMINA ss244280359 Jul 04, 2010 (132)
14 OMICIA ss275516232 Nov 30, 2010 (133)
15 OMIM-CURATED-RECORDS ss275518044 Dec 03, 2010 (133)
16 NHLBI-ESP ss342232252 May 09, 2011 (134)
17 ILLUMINA ss480052972 May 04, 2012 (137)
18 ILLUMINA ss480061576 May 04, 2012 (137)
19 ILLUMINA ss480732671 Sep 08, 2015 (146)
20 ILLUMINA ss484824408 May 04, 2012 (137)
21 1000GENOMES ss490942695 May 04, 2012 (137)
22 EXOME_CHIP ss491397516 May 04, 2012 (137)
23 CLINSEQ_SNP ss491903667 May 04, 2012 (137)
24 ILLUMINA ss536901518 Sep 08, 2015 (146)
25 ILLUMINA ss779034268 Sep 08, 2015 (146)
26 ILLUMINA ss780858198 Aug 21, 2014 (142)
27 ILLUMINA ss782858766 Sep 08, 2015 (146)
28 ILLUMINA ss783542473 Aug 21, 2014 (142)
29 ILLUMINA ss783823155 Sep 08, 2015 (146)
30 ILLUMINA ss832112759 Sep 08, 2015 (146)
31 ILLUMINA ss834497028 Sep 08, 2015 (146)
32 EVA-GONL ss984058706 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1067486844 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1074447266 Aug 21, 2014 (142)
35 1000GENOMES ss1324327445 Aug 21, 2014 (142)
36 HAMMER_LAB ss1397487993 Sep 08, 2015 (146)
37 EVA_GENOME_DK ss1582114405 Apr 01, 2015 (144)
38 EVA_FINRISK ss1584051582 Apr 01, 2015 (144)
39 EVA_DECODE ss1593627489 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1617783857 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1660777890 Apr 01, 2015 (144)
42 EVA_EXAC ss1688675246 Apr 01, 2015 (144)
43 EVA_EXAC ss1688675247 Apr 01, 2015 (144)
44 EVA_MGP ss1711157647 Apr 01, 2015 (144)
45 EVA_SVP ss1712939471 Apr 01, 2015 (144)
46 ILLUMINA ss1752679170 Sep 08, 2015 (146)
47 ILLUMINA ss1752679171 Sep 08, 2015 (146)
48 ILLUMINA ss1917815575 Feb 12, 2016 (147)
49 WEILL_CORNELL_DGM ss1927304012 Feb 12, 2016 (147)
50 ILLUMINA ss1946204352 Feb 12, 2016 (147)
51 ILLUMINA ss1958996003 Feb 12, 2016 (147)
52 JJLAB ss2024328655 Sep 14, 2016 (149)
53 USC_VALOUEV ss2152524841 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2292487155 Dec 20, 2016 (150)
55 TOPMED ss2461346796 Dec 20, 2016 (150)
56 ILLUMINA ss2634580552 Nov 08, 2017 (151)
57 GNOMAD ss2736339289 Nov 08, 2017 (151)
58 GNOMAD ss2747792068 Nov 08, 2017 (151)
59 GNOMAD ss2850877051 Nov 08, 2017 (151)
60 AFFY ss2985402125 Nov 08, 2017 (151)
61 AFFY ss2986033753 Nov 08, 2017 (151)
62 SWEGEN ss3000786624 Nov 08, 2017 (151)
63 ILLUMINA ss3022717551 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3025958567 Nov 08, 2017 (151)
65 TOPMED ss3525053370 Nov 08, 2017 (151)
66 ILLUMINA ss3629773281 Oct 12, 2018 (152)
67 ILLUMINA ss3629773282 Oct 12, 2018 (152)
68 ILLUMINA ss3632489362 Oct 12, 2018 (152)
69 ILLUMINA ss3633456228 Oct 12, 2018 (152)
70 ILLUMINA ss3634180810 Oct 12, 2018 (152)
71 ILLUMINA ss3635112574 Oct 12, 2018 (152)
72 ILLUMINA ss3635112575 Oct 12, 2018 (152)
73 ILLUMINA ss3635860795 Oct 12, 2018 (152)
74 ILLUMINA ss3636843151 Oct 12, 2018 (152)
75 ILLUMINA ss3637613738 Oct 12, 2018 (152)
76 ILLUMINA ss3638686060 Oct 12, 2018 (152)
77 ILLUMINA ss3640819870 Oct 12, 2018 (152)
78 ILLUMINA ss3640819871 Oct 12, 2018 (152)
79 ILLUMINA ss3641209476 Oct 12, 2018 (152)
80 ILLUMINA ss3641506875 Oct 12, 2018 (152)
81 ILLUMINA ss3643623041 Oct 12, 2018 (152)
82 ILLUMINA ss3644937462 Oct 12, 2018 (152)
83 OMUKHERJEE_ADBS ss3646350189 Oct 12, 2018 (152)
84 ILLUMINA ss3653245728 Oct 12, 2018 (152)
85 ILLUMINA ss3654162665 Oct 12, 2018 (152)
86 EGCUT_WGS ss3668714968 Jul 13, 2019 (153)
87 EVA_DECODE ss3719295050 Jul 13, 2019 (153)
88 ILLUMINA ss3726428844 Jul 13, 2019 (153)
89 ACPOP ss3734447448 Jul 13, 2019 (153)
90 ILLUMINA ss3744566303 Jul 13, 2019 (153)
91 ILLUMINA ss3745412460 Jul 13, 2019 (153)
92 ILLUMINA ss3745412461 Jul 13, 2019 (153)
93 EVA ss3766310724 Jul 13, 2019 (153)
94 PAGE_CC ss3771357979 Jul 13, 2019 (153)
95 ILLUMINA ss3772905641 Jul 13, 2019 (153)
96 ILLUMINA ss3772905642 Jul 13, 2019 (153)
97 EVA ss3824262973 Apr 26, 2020 (154)
98 EVA ss3825716549 Apr 26, 2020 (154)
99 EVA ss3830467850 Apr 26, 2020 (154)
100 SGDP_PRJ ss3866843253 Apr 26, 2020 (154)
101 KRGDB ss3913881017 Apr 26, 2020 (154)
102 KOGIC ss3961068517 Apr 26, 2020 (154)
103 FSA-LAB ss3984362310 Apr 26, 2021 (155)
104 EVA ss3984585094 Apr 26, 2021 (155)
105 EVA ss3986376420 Apr 26, 2021 (155)
106 TOPMED ss4739017872 Apr 26, 2021 (155)
107 EVA ss5237417327 Apr 26, 2021 (155)
108 1000Genomes NC_000007.13 - 24324879 Oct 12, 2018 (152)
109 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 24324879 Oct 12, 2018 (152)
110 Genome-wide autozygosity in Daghestan NC_000007.12 - 24291404 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000007.13 - 24324879 Oct 12, 2018 (152)
112 ExAC

Submission ignored due to conflicting rows:
Row 8736184 (NC_000007.13:24324878:T:T 117476/121144, NC_000007.13:24324878:T:C 3668/121144)
Row 8736185 (NC_000007.13:24324878:T:T 121143/121144, NC_000007.13:24324878:T:A 1/121144)

- Oct 12, 2018 (152)
113 ExAC

Submission ignored due to conflicting rows:
Row 8736184 (NC_000007.13:24324878:T:T 117476/121144, NC_000007.13:24324878:T:C 3668/121144)
Row 8736185 (NC_000007.13:24324878:T:T 121143/121144, NC_000007.13:24324878:T:A 1/121144)

- Oct 12, 2018 (152)
114 FINRISK NC_000007.13 - 24324879 Apr 26, 2020 (154)
115 The Danish reference pan genome NC_000007.13 - 24324879 Apr 26, 2020 (154)
116 gnomAD - Genomes NC_000007.14 - 24285260 Apr 26, 2021 (155)
117 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5498379 (NC_000007.13:24324878:T:T 250627/250628, NC_000007.13:24324878:T:A 1/250628)
Row 5498380 (NC_000007.13:24324878:T:T 243161/250628, NC_000007.13:24324878:T:C 7467/250628)

- Jul 13, 2019 (153)
118 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5498379 (NC_000007.13:24324878:T:T 250627/250628, NC_000007.13:24324878:T:A 1/250628)
Row 5498380 (NC_000007.13:24324878:T:T 243161/250628, NC_000007.13:24324878:T:C 7467/250628)

- Jul 13, 2019 (153)
119 Genome of the Netherlands Release 5 NC_000007.13 - 24324879 Apr 26, 2020 (154)
120 HapMap NC_000007.14 - 24285260 Apr 26, 2020 (154)
121 KOREAN population from KRGDB NC_000007.13 - 24324879 Apr 26, 2020 (154)
122 Korean Genome Project NC_000007.14 - 24285260 Apr 26, 2020 (154)
123 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 24324879 Apr 26, 2020 (154)
124 Northern Sweden NC_000007.13 - 24324879 Jul 13, 2019 (153)
125 The PAGE Study NC_000007.14 - 24285260 Jul 13, 2019 (153)
126 CNV burdens in cranial meningiomas NC_000007.13 - 24324879 Apr 26, 2021 (155)
127 Qatari NC_000007.13 - 24324879 Apr 26, 2020 (154)
128 SGDP_PRJ NC_000007.13 - 24324879 Apr 26, 2020 (154)
129 Siberian NC_000007.13 - 24324879 Apr 26, 2020 (154)
130 TopMed NC_000007.14 - 24285260 Apr 26, 2021 (155)
131 UK 10K study - Twins NC_000007.13 - 24324879 Oct 12, 2018 (152)
132 ALFA NC_000007.14 - 24285260 Apr 26, 2021 (155)
133 ClinVar RCV000015068.2 Oct 12, 2018 (152)
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)
rs17313995 Oct 08, 2004 (123)
rs52829669 Sep 21, 2007 (128)
rs386539811 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1688675247, ss2736339289 NC_000007.13:24324878:T:A NC_000007.14:24285259:T:A (self)
462248, ss160378839, ss244280359, ss480052972, ss491903667, ss1397487993, ss1593627489, ss1712939471, ss3643623041 NC_000007.12:24291403:T:C NC_000007.14:24285259:T:C (self)
36268750, 20218765, 14453216, 48043, 8279344, 9014455, 21058411, 273407, 7732313, 134514, 9345942, 18860233, 5041195, 20218765, ss233892178, ss342232252, ss480061576, ss480732671, ss484824408, ss490942695, ss491397516, ss536901518, ss779034268, ss780858198, ss782858766, ss783542473, ss783823155, ss832112759, ss834497028, ss984058706, ss1067486844, ss1074447266, ss1324327445, ss1582114405, ss1584051582, ss1617783857, ss1660777890, ss1688675246, ss1711157647, ss1752679170, ss1752679171, ss1917815575, ss1927304012, ss1946204352, ss1958996003, ss2024328655, ss2152524841, ss2461346796, ss2634580552, ss2736339289, ss2747792068, ss2850877051, ss2985402125, ss2986033753, ss3000786624, ss3022717551, ss3629773281, ss3629773282, ss3632489362, ss3633456228, ss3634180810, ss3635112574, ss3635112575, ss3635860795, ss3636843151, ss3637613738, ss3638686060, ss3640819870, ss3640819871, ss3641209476, ss3641506875, ss3644937462, ss3646350189, ss3653245728, ss3654162665, ss3668714968, ss3734447448, ss3744566303, ss3745412460, ss3745412461, ss3766310724, ss3772905641, ss3772905642, ss3824262973, ss3825716549, ss3830467850, ss3866843253, ss3913881017, ss3984362310, ss3984585094, ss3986376420, ss5237417327 NC_000007.13:24324878:T:C NC_000007.14:24285259:T:C (self)
RCV000015068.2, 255738833, 3357701, 17446518, 579448, 360568387, 576395431, 27324256, ss275516232, ss275518044, ss2292487155, ss3025958567, ss3525053370, ss3719295050, ss3726428844, ss3771357979, ss3961068517, ss4739017872 NC_000007.14:24285259:T:C NC_000007.14:24285259:T:C (self)
ss76888875 NT_007819.16:23813836:T:C NC_000007.14:24285259:T:C (self)
ss18563, ss4253009, ss24434107, ss48427983, ss69009441, ss74806725, ss74876984, ss159714453, ss172602276 NT_007819.17:24314878:T:C NC_000007.14:24285259:T:C (self)
Help

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

40 citations for rs16139
PMID Title Author Year Journal
9846584 Association of a leucine(7)-to-proline(7) polymorphism in the signal peptide of neuropeptide Y with high serum cholesterol and LDL cholesterol levels. Karvonen MK et al. 1998 Nature medicine
9920351 Neuropeptide Y: a novel link between the neuroendocrine system and cholesterol metabolism. Uusitupa MI et al. 1998 Annals of medicine
10770181 Leucine 7 to proline 7 polymorphism in the preproneuropeptide Y is associated with birth weight and serum triglyceride concentration in preschool aged children. Karvonen MK et al. 2000 The Journal of clinical endocrinology and metabolism
10852461 Leucine 7 to proline 7 polymorphism in the neuropeptide Y gene is associated with enhanced carotid atherosclerosis in elderly patients with type 2 diabetes and control subjects. Niskanen L et al. 2000 The Journal of clinical endocrinology and metabolism
10869113 Neuropeptide Y polymorphism and alcohol consumption in middle-aged men. Kauhanen J et al. 2000 American journal of medical genetics
12215082 A functional neuropeptide Y Leu7Pro polymorphism associated with alcohol dependence in a large population sample from the United States. Lappalainen J et al. 2002 Archives of general psychiatry
12843176 Changes in diurnal sympathoadrenal balance and pituitary hormone secretion in subjects with Leu7Pro polymorphism in the prepro-neuropeptide Y. Kallio J et al. 2003 The Journal of clinical endocrinology and metabolism
17357083 Medical sequencing at the extremes of human body mass. Ahituv N et al. 2007 American journal of human genetics
18385673 Genetic variation in human NPY expression affects stress response and emotion. Zhou Z et al. 2008 Nature
18828811 Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence. Wetherill L et al. 2008 Alcoholism, clinical and experimental research
19119412 Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis. Shah SH et al. 2009 PLoS genetics
19470168 NPAS2 and PER2 are linked to risk factors of the metabolic syndrome. Englund A et al. 2009 Journal of circadian rhythms
19587357 A systematic meta-analysis of genetic association studies for diabetic retinopathy. Abhary S et al. 2009 Diabetes
20180986 CLOCK is suggested to associate with comorbid alcohol use and depressive disorders. Sjöholm LK et al. 2010 Journal of circadian rhythms
20347642 Insights to the genetics of diabetic nephropathy through a genome-wide association study of the GoKinD collection. Pezzolesi MG et al. 2010 Seminars in nephrology
20351714 Poor replication of candidate genes for major depressive disorder using genome-wide association data. Bosker FJ et al. 2011 Molecular psychiatry
20549395 Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. Cornelis MC et al. 2010 Current psychiatry reports
21300944 Emotion processing, major depression, and functional genetic variation of neuropeptide Y. Mickey BJ et al. 2011 Archives of general psychiatry
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21818152 Polymorphisms in the NPY2R gene show significant associations with BMI that are additive to FTO, MC4R, and NPFFR2 gene effects. Hunt SC et al. 2011 Obesity (Silver Spring, Md.)
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
21917383 Genetic modulation of plasma NPY stress response is suppressed in substance abuse: association with clinical outcomes. Xu K et al. 2012 Psychoneuroendocrinology
21937627 Polymorphisms in the neuropeptide Y gene and the risk of obesity: findings from two prospective cohorts. Yeung EH et al. 2011 The Journal of clinical endocrinology and metabolism
22290120 The evolutionary significance of depression in Pathogen Host Defense (PATHOS-D). Raison CL et al. 2013 Molecular psychiatry
23122776 Neuropeptide Y polymorphism increases the risk for asthma in overweight subjects; protection from atherosclerosis in asthmatic subjects--the cardiovascular risk in young Finns study. Jaakkola U et al. 2012 Neuropeptides
23910631 Neuropeptide Y autoantibodies in patients with long-term type 1 and type 2 diabetes and neuropathy. Skärstrand H et al. 2013 Journal of diabetes and its complications
23964269 The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms. Lin WJ et al. 2013 Frontiers in endocrinology
24201779 Genetic variability in energy balance and pancreatic cancer risk in a population-based case-control study in Minnesota. Zhang J et al. 2014 Pancreas
25221996 Association of neuropeptide Y (NPY), interleukin-1B (IL1B) genetic variants and correlation of IL1B transcript levels with vitiligo susceptibility. Laddha NC et al. 2014 PloS one
25258030 Neuropeptide Y is a minor autoantigen in newly diagnosed type 1 diabetes patients. Skärstrand H et al. 2015 Pediatric diabetes
26240981 Comprehensive evaluation of the neuropeptide-Y gene variants in the risk of obesity: a case-control study and meta-analysis. Zain SM et al. 2015 Pharmacogenetics and genomics
27159875 Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus. Kautzky-Willer A et al. 2016 Endocrine reviews
27559040 Association study of two functional single nucleotide polymorphisms of neuropeptide y gene with multiple sclerosis. Mohammadi SM et al. 2016 Neuropeptides
27730450 Candidate gene studies of diabetic retinopathy in human. Priščáková P et al. 2016 Molecular biology reports
27749914 Association of Neuropeptide-Y (NPY) and Interleukin-1beta (IL1B), Genotype-Phenotype Correlation and Plasma Lipids with Type-II Diabetes. Patel R et al. 2016 PloS one
28468933 The metabolic syndrome in mice overexpressing neuropeptide Y in noradrenergic neurons. Ailanen L et al. 2017 The Journal of endocrinology
28636007 Analysis of association of gene variants with obesity traits in New Zealand European children at 6 years of age. Krishnan M et al. 2017 Molecular bioSystems
29062372 The Relationship between Body Mass Index (BMI) and Depression According to the rs16139NPY Gene. Dolatian A et al. 2017 Iranian journal of psychiatry
29494882 Neuropeptide Y, stressful life events and personality trait conscientiousness: Preliminary associations from a Swedish longitudinal study. Melas PA et al. 2018 Psychiatry research
33652060 Neuropeptide Y gene variants in obesity, dietary intake, blood pressure, lipid and glucose metabolism: A longitudinal birth cohort study. Katus U et al. 2021 Peptides
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.post593+28e45f6