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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.

rs255

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19954390 (GRCh38.p14) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.181322 (47994/264690, TOPMED)
C=0.166838 (41243/247204, GnomAD_exome)
C=0.174851 (24497/140102, GnomAD) (+ 21 more)
C=0.170583 (20024/117386, ExAC)
C=0.16773 (8014/47778, ALFA)
C=0.22057 (6233/28258, 14KJPN)
C=0.22321 (3741/16760, 8.3KJPN)
C=0.09934 (1292/13006, GO-ESP)
C=0.2114 (1354/6404, 1000G_30x)
C=0.2065 (1034/5008, 1000G)
C=0.1404 (629/4480, Estonian)
C=0.1510 (582/3854, ALSPAC)
C=0.1502 (557/3708, TWINSUK)
C=0.2099 (615/2930, KOREAN)
C=0.2101 (397/1890, HapMap)
C=0.1943 (356/1832, Korea1K)
C=0.141 (141/998, GoNL)
C=0.115 (69/600, NorthernSweden)
C=0.169 (90/534, MGP)
C=0.153 (33/216, Qatari)
T=0.413 (81/196, SGDP_PRJ)
C=0.15 (6/40, GENOME_DK)
T=0.50 (8/16, Siberian)
C=0.50 (8/16, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Intron Variant
Publications
2 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 47778 T=0.83227 C=0.16773
European Sub 34692 T=0.84850 C=0.15150
African Sub 7554 T=0.7675 C=0.2325
African Others Sub 250 T=0.748 C=0.252
African American Sub 7304 T=0.7682 C=0.2318
Asian Sub 192 T=0.719 C=0.281
East Asian Sub 134 T=0.694 C=0.306
Other Asian Sub 58 T=0.78 C=0.22
Latin American 1 Sub 182 T=0.846 C=0.154
Latin American 2 Sub 754 T=0.840 C=0.160
South Asian Sub 114 T=0.754 C=0.246
Other Sub 4290 T=0.8203 C=0.1797


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
TopMed Global Study-wide 264690 T=0.818678 C=0.181322
gnomAD - Exomes Global Study-wide 247204 T=0.833162 C=0.166838
gnomAD - Exomes European Sub 132352 T=0.860977 C=0.139023
gnomAD - Exomes Asian Sub 48556 T=0.77704 C=0.22296
gnomAD - Exomes American Sub 34202 T=0.84279 C=0.15721
gnomAD - Exomes African Sub 16044 T=0.76764 C=0.23236
gnomAD - Exomes Ashkenazi Jewish Sub 10000 T=0.8050 C=0.1950
gnomAD - Exomes Other Sub 6050 T=0.8410 C=0.1590
gnomAD - Genomes Global Study-wide 140102 T=0.825149 C=0.174851
gnomAD - Genomes European Sub 75908 T=0.85594 C=0.14406
gnomAD - Genomes African Sub 41944 T=0.77356 C=0.22644
gnomAD - Genomes American Sub 13644 T=0.82439 C=0.17561
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.8066 C=0.1934
gnomAD - Genomes East Asian Sub 3128 T=0.7868 C=0.2132
gnomAD - Genomes Other Sub 2154 T=0.8338 C=0.1662
ExAC Global Study-wide 117386 T=0.829417 C=0.170583
ExAC Europe Sub 71008 T=0.85492 C=0.14508
ExAC Asian Sub 24420 T=0.77338 C=0.22662
ExAC American Sub 10980 T=0.84098 C=0.15902
ExAC African Sub 10084 T=0.77043 C=0.22957
ExAC Other Sub 894 T=0.858 C=0.142
Allele Frequency Aggregator Total Global 47778 T=0.83227 C=0.16773
Allele Frequency Aggregator European Sub 34692 T=0.84850 C=0.15150
Allele Frequency Aggregator African Sub 7554 T=0.7675 C=0.2325
Allele Frequency Aggregator Other Sub 4290 T=0.8203 C=0.1797
Allele Frequency Aggregator Latin American 2 Sub 754 T=0.840 C=0.160
Allele Frequency Aggregator Asian Sub 192 T=0.719 C=0.281
Allele Frequency Aggregator Latin American 1 Sub 182 T=0.846 C=0.154
Allele Frequency Aggregator South Asian Sub 114 T=0.754 C=0.246
14KJPN JAPANESE Study-wide 28258 T=0.77943 C=0.22057
8.3KJPN JAPANESE Study-wide 16760 T=0.77679 C=0.22321
GO Exome Sequencing Project Global Study-wide 13006 T=0.90066 C=0.09934
GO Exome Sequencing Project European American Sub 8600 T=0.9230 C=0.0770
GO Exome Sequencing Project African American Sub 4406 T=0.8570 C=0.1430
1000Genomes_30x Global Study-wide 6404 T=0.7886 C=0.2114
1000Genomes_30x African Sub 1786 T=0.7738 C=0.2262
1000Genomes_30x Europe Sub 1266 T=0.8325 C=0.1675
1000Genomes_30x South Asian Sub 1202 T=0.7671 C=0.2329
1000Genomes_30x East Asian Sub 1170 T=0.7487 C=0.2513
1000Genomes_30x American Sub 980 T=0.833 C=0.167
1000Genomes Global Study-wide 5008 T=0.7935 C=0.2065
1000Genomes African Sub 1322 T=0.7814 C=0.2186
1000Genomes East Asian Sub 1008 T=0.7520 C=0.2480
1000Genomes Europe Sub 1006 T=0.8479 C=0.1521
1000Genomes South Asian Sub 978 T=0.764 C=0.236
1000Genomes American Sub 694 T=0.840 C=0.160
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8596 C=0.1404
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8490 C=0.1510
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8498 C=0.1502
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7901 C=0.2099
HapMap Global Study-wide 1890 T=0.7899 C=0.2101
HapMap American Sub 770 T=0.803 C=0.197
HapMap African Sub 690 T=0.770 C=0.230
HapMap Asian Sub 254 T=0.776 C=0.224
HapMap Europe Sub 176 T=0.835 C=0.165
Korean Genome Project KOREAN Study-wide 1832 T=0.8057 C=0.1943
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.859 C=0.141
Northern Sweden ACPOP Study-wide 600 T=0.885 C=0.115
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.831 C=0.169
Qatari Global Study-wide 216 T=0.847 C=0.153
SGDP_PRJ Global Study-wide 196 T=0.413 C=0.587
The Danish reference pan genome Danish Study-wide 40 T=0.85 C=0.15
Siberian Global Study-wide 16 T=0.50 C=0.50
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.p14 chr 8 NC_000008.11:g.19954390T>C
GRCh37.p13 chr 8 NC_000008.10:g.19811901T>C
LPL RefSeqGene (LRG_1298) NG_008855.2:g.57674T>C
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.775+37T>C N/A Intron 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: 1171839 )
ClinVar Accession Disease Names Clinical Significance
RCV001540357.2 not provided Benign
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= C
GRCh38.p14 chr 8 NC_000008.11:g.19954390= NC_000008.11:g.19954390T>C
GRCh37.p13 chr 8 NC_000008.10:g.19811901= NC_000008.10:g.19811901T>C
LPL RefSeqGene (LRG_1298) NG_008855.2:g.57674= NG_008855.2:g.57674T>C
LPL transcript NM_000237.2:c.775+37= NM_000237.2:c.775+37T>C
LPL transcript NM_000237.3:c.775+37= NM_000237.3:c.775+37T>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#.

94 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss255 Sep 19, 2000 (36)
2 WI_SSAHASNP ss6803993 Feb 20, 2003 (111)
3 BCM_SSAHASNP ss10421747 Jul 11, 2003 (116)
4 ILLUMINA ss65750586 Oct 15, 2006 (127)
5 ILLUMINA ss74989534 Dec 07, 2007 (129)
6 BGI ss104512504 Dec 01, 2009 (131)
7 KRIBB_YJKIM ss119336838 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss162223993 Jul 04, 2010 (132)
9 ILLUMINA ss173388011 Jul 04, 2010 (132)
10 BUSHMAN ss198888082 Jul 04, 2010 (132)
11 1000GENOMES ss223585621 Jul 14, 2010 (132)
12 1000GENOMES ss234352465 Jul 15, 2010 (132)
13 1000GENOMES ss241227289 Jul 15, 2010 (132)
14 ILLUMINA ss244291051 Jul 04, 2010 (132)
15 BL ss254171396 May 09, 2011 (134)
16 GMI ss279724010 May 04, 2012 (137)
17 ILLUMINA ss410878527 Sep 17, 2011 (135)
18 ILLUMINA ss484373144 May 04, 2012 (137)
19 ILLUMINA ss485584676 May 04, 2012 (137)
20 1000GENOMES ss490960917 May 04, 2012 (137)
21 ILLUMINA ss536555477 Sep 08, 2015 (146)
22 TISHKOFF ss560600101 Apr 25, 2013 (138)
23 SSMP ss655035539 Apr 25, 2013 (138)
24 NHLBI-ESP ss712828526 Apr 25, 2013 (138)
25 ILLUMINA ss780629202 Sep 08, 2015 (146)
26 ILLUMINA ss782632906 Sep 08, 2015 (146)
27 ILLUMINA ss836122976 Sep 08, 2015 (146)
28 EVA-GONL ss985272606 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1075339991 Aug 21, 2014 (142)
30 1000GENOMES ss1328915082 Aug 21, 2014 (142)
31 DDI ss1431441572 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1582593746 Apr 01, 2015 (144)
33 EVA_DECODE ss1594862262 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1620133675 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1663127708 Apr 01, 2015 (144)
36 EVA_EXAC ss1689111531 Apr 01, 2015 (144)
37 EVA_MGP ss1711194698 Apr 01, 2015 (144)
38 EVA_SVP ss1713021085 Apr 01, 2015 (144)
39 HAMMER_LAB ss1805432774 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1928562354 Feb 12, 2016 (147)
41 GENOMED ss1970929928 Jul 19, 2016 (147)
42 JJLAB ss2024980539 Sep 14, 2016 (149)
43 USC_VALOUEV ss2153202005 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2301287827 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2626975140 Nov 08, 2017 (151)
46 ILLUMINA ss2634720439 Nov 08, 2017 (151)
47 GRF ss2708962514 Nov 08, 2017 (151)
48 GNOMAD ss2737022323 Nov 08, 2017 (151)
49 GNOMAD ss2748007707 Nov 08, 2017 (151)
50 GNOMAD ss2864092719 Nov 08, 2017 (151)
51 AFFY ss2986076168 Nov 08, 2017 (151)
52 SWEGEN ss3002804420 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3026281095 Nov 08, 2017 (151)
54 CSHL ss3348082018 Nov 08, 2017 (151)
55 ILLUMINA ss3630013632 Oct 12, 2018 (152)
56 ILLUMINA ss3632620990 Oct 12, 2018 (152)
57 ILLUMINA ss3638748365 Oct 12, 2018 (152)
58 ILLUMINA ss3642618964 Oct 12, 2018 (152)
59 ILLUMINA ss3643680163 Oct 12, 2018 (152)
60 OMUKHERJEE_ADBS ss3646373016 Oct 12, 2018 (152)
61 EGCUT_WGS ss3670484445 Jul 13, 2019 (153)
62 EVA_DECODE ss3721555421 Jul 13, 2019 (153)
63 ACPOP ss3735467023 Jul 13, 2019 (153)
64 EVA ss3767717741 Jul 13, 2019 (153)
65 PACBIO ss3786087357 Jul 13, 2019 (153)
66 PACBIO ss3791353766 Jul 13, 2019 (153)
67 PACBIO ss3796234933 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3810881202 Jul 13, 2019 (153)
69 EVA ss3824351397 Apr 26, 2020 (154)
70 EVA ss3825737072 Apr 26, 2020 (154)
71 EVA ss3831054894 Apr 26, 2020 (154)
72 SGDP_PRJ ss3869436688 Apr 26, 2020 (154)
73 KRGDB ss3916862519 Apr 26, 2020 (154)
74 KOGIC ss3963402153 Apr 26, 2020 (154)
75 FSA-LAB ss3984393690 Apr 27, 2021 (155)
76 FSA-LAB ss3984393691 Apr 27, 2021 (155)
77 EVA ss3986415470 Apr 27, 2021 (155)
78 EVA ss4017379935 Apr 27, 2021 (155)
79 TOPMED ss4778092589 Apr 27, 2021 (155)
80 TOMMO_GENOMICS ss5187654382 Apr 27, 2021 (155)
81 1000G_HIGH_COVERAGE ss5276330126 Oct 14, 2022 (156)
82 EVA ss5315316831 Oct 14, 2022 (156)
83 HUGCELL_USP ss5472980748 Oct 14, 2022 (156)
84 EVA ss5509275466 Oct 14, 2022 (156)
85 1000G_HIGH_COVERAGE ss5566253965 Oct 14, 2022 (156)
86 EVA ss5624176079 Oct 14, 2022 (156)
87 SANFORD_IMAGENETICS ss5644923817 Oct 14, 2022 (156)
88 TOMMO_GENOMICS ss5729270970 Oct 14, 2022 (156)
89 YY_MCH ss5809516727 Oct 14, 2022 (156)
90 EVA ss5830224451 Oct 14, 2022 (156)
91 EVA ss5848702261 Oct 14, 2022 (156)
92 EVA ss5856287085 Oct 14, 2022 (156)
93 EVA ss5888021454 Oct 14, 2022 (156)
94 EVA ss5974104308 Oct 14, 2022 (156)
95 1000Genomes NC_000008.10 - 19811901 Oct 12, 2018 (152)
96 1000Genomes_30x NC_000008.11 - 19954390 Oct 14, 2022 (156)
97 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19811901 Oct 12, 2018 (152)
98 Genetic variation in the Estonian population NC_000008.10 - 19811901 Oct 12, 2018 (152)
99 ExAC NC_000008.10 - 19811901 Oct 12, 2018 (152)
100 The Danish reference pan genome NC_000008.10 - 19811901 Apr 26, 2020 (154)
101 gnomAD - Genomes NC_000008.11 - 19954390 Apr 27, 2021 (155)
102 gnomAD - Exomes NC_000008.10 - 19811901 Jul 13, 2019 (153)
103 GO Exome Sequencing Project NC_000008.10 - 19811901 Oct 12, 2018 (152)
104 Genome of the Netherlands Release 5 NC_000008.10 - 19811901 Apr 26, 2020 (154)
105 HapMap NC_000008.11 - 19954390 Apr 26, 2020 (154)
106 KOREAN population from KRGDB NC_000008.10 - 19811901 Apr 26, 2020 (154)
107 Korean Genome Project NC_000008.11 - 19954390 Apr 26, 2020 (154)
108 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 19811901 Apr 26, 2020 (154)
109 Northern Sweden NC_000008.10 - 19811901 Jul 13, 2019 (153)
110 Qatari NC_000008.10 - 19811901 Apr 26, 2020 (154)
111 SGDP_PRJ NC_000008.10 - 19811901 Apr 26, 2020 (154)
112 Siberian NC_000008.10 - 19811901 Apr 26, 2020 (154)
113 8.3KJPN NC_000008.10 - 19811901 Apr 27, 2021 (155)
114 14KJPN NC_000008.11 - 19954390 Oct 14, 2022 (156)
115 TopMed NC_000008.11 - 19954390 Apr 27, 2021 (155)
116 UK 10K study - Twins NC_000008.10 - 19811901 Oct 12, 2018 (152)
117 ALFA NC_000008.11 - 19954390 Apr 27, 2021 (155)
118 ClinVar RCV001540357.2 Oct 14, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss162223993, ss198888082, ss254171396, ss279724010, ss485584676, ss1594862262, ss1713021085, ss3643680163 NC_000008.9:19856180:T:C NC_000008.11:19954389:T:C (self)
41009824, 22797067, 16222693, 9205125, 8758684, 6190706, 809249, 10186922, 24039913, 310458, 8751888, 10604284, 21453668, 5718359, 45623689, 22797067, ss223585621, ss234352465, ss241227289, ss484373144, ss490960917, ss536555477, ss560600101, ss655035539, ss712828526, ss780629202, ss782632906, ss836122976, ss985272606, ss1075339991, ss1328915082, ss1431441572, ss1582593746, ss1620133675, ss1663127708, ss1689111531, ss1711194698, ss1805432774, ss1928562354, ss1970929928, ss2024980539, ss2153202005, ss2626975140, ss2634720439, ss2708962514, ss2737022323, ss2748007707, ss2864092719, ss2986076168, ss3002804420, ss3348082018, ss3630013632, ss3632620990, ss3638748365, ss3642618964, ss3646373016, ss3670484445, ss3735467023, ss3767717741, ss3786087357, ss3791353766, ss3796234933, ss3824351397, ss3825737072, ss3831054894, ss3869436688, ss3916862519, ss3984393690, ss3984393691, ss3986415470, ss4017379935, ss5187654382, ss5315316831, ss5509275466, ss5624176079, ss5644923817, ss5830224451, ss5848702261, ss5974104308 NC_000008.10:19811900:T:C NC_000008.11:19954389:T:C (self)
RCV001540357.2, 53779900, 289194548, 3580969, 19780154, 63108074, 615470149, 7261945919, ss2301287827, ss3026281095, ss3721555421, ss3810881202, ss3963402153, ss4778092589, ss5276330126, ss5472980748, ss5566253965, ss5729270970, ss5809516727, ss5856287085, ss5888021454 NC_000008.11:19954389:T:C NC_000008.11:19954389:T:C (self)
ss10421747 NT_030737.7:3533124:T:C NC_000008.11:19954389:T:C (self)
ss255, ss6803993, ss65750586, ss74989534, ss104512504, ss119336838, ss173388011, ss244291051, ss410878527 NT_167187.1:7670046:T:C NC_000008.11:19954389: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.

2 citations for rs255
PMID Title Author Year Journal
20410100 Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos. Voruganti VS et al. 2010 The American journal of clinical nutrition
21303902 Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol. Edmondson AC et al. 2011 Circulation. Cardiovascular genetics
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.post761+d5e8e07