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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.

rs6051788

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:3358798 (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 / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.363565 (96232/264690, TOPMED)
T=0.366266 (51278/140002, GnomAD)
T=0.38548 (30338/78702, PAGE_STUDY) (+ 19 more)
T=0.49236 (13913/28258, 14KJPN)
T=0.35272 (6933/19656, ALFA)
T=0.49308 (8264/16760, 8.3KJPN)
T=0.3732 (2390/6404, 1000G_30x)
T=0.3722 (1864/5008, 1000G)
T=0.3435 (1539/4480, Estonian)
T=0.3594 (1385/3854, ALSPAC)
T=0.3579 (1327/3708, TWINSUK)
C=0.4747 (1391/2930, KOREAN)
C=0.4825 (884/1832, Korea1K)
T=0.3915 (444/1134, Daghestan)
T=0.358 (357/998, GoNL)
T=0.375 (225/600, NorthernSweden)
T=0.264 (120/454, SGDP_PRJ)
T=0.294 (96/326, HapMap)
T=0.366 (79/216, Qatari)
C=0.472 (101/214, Vietnamese)
T=0.28 (13/46, Siberian)
T=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DNAAF9 : Intron Variant
Publications
0 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 19656 T=0.35272 C=0.64728
European Sub 14448 T=0.35126 C=0.64874
African Sub 3384 T=0.3307 C=0.6693
African Others Sub 114 T=0.377 C=0.623
African American Sub 3270 T=0.3291 C=0.6709
Asian Sub 148 T=0.520 C=0.480
East Asian Sub 122 T=0.500 C=0.500
Other Asian Sub 26 T=0.62 C=0.38
Latin American 1 Sub 146 T=0.384 C=0.616
Latin American 2 Sub 610 T=0.454 C=0.546
South Asian Sub 106 T=0.226 C=0.774
Other Sub 814 T=0.375 C=0.625


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=0.363565 C=0.636435
gnomAD - Genomes Global Study-wide 140002 T=0.366266 C=0.633734
gnomAD - Genomes European Sub 75830 T=0.36578 C=0.63422
gnomAD - Genomes African Sub 41942 T=0.33129 C=0.66871
gnomAD - Genomes American Sub 13636 T=0.42908 C=0.57092
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.3847 C=0.6153
gnomAD - Genomes East Asian Sub 3124 T=0.5528 C=0.4472
gnomAD - Genomes Other Sub 2148 T=0.3678 C=0.6322
The PAGE Study Global Study-wide 78702 T=0.38548 C=0.61452
The PAGE Study AfricanAmerican Sub 32516 T=0.33734 C=0.66266
The PAGE Study Mexican Sub 10810 T=0.41434 C=0.58566
The PAGE Study Asian Sub 8318 T=0.5055 C=0.4945
The PAGE Study PuertoRican Sub 7918 T=0.3484 C=0.6516
The PAGE Study NativeHawaiian Sub 4534 T=0.5022 C=0.4978
The PAGE Study Cuban Sub 4230 T=0.3745 C=0.6255
The PAGE Study Dominican Sub 3828 T=0.3665 C=0.6335
The PAGE Study CentralAmerican Sub 2450 T=0.4424 C=0.5576
The PAGE Study SouthAmerican Sub 1982 T=0.4117 C=0.5883
The PAGE Study NativeAmerican Sub 1260 T=0.3794 C=0.6206
The PAGE Study SouthAsian Sub 856 T=0.332 C=0.668
14KJPN JAPANESE Study-wide 28258 T=0.49236 C=0.50764
Allele Frequency Aggregator Total Global 19656 T=0.35272 C=0.64728
Allele Frequency Aggregator European Sub 14448 T=0.35126 C=0.64874
Allele Frequency Aggregator African Sub 3384 T=0.3307 C=0.6693
Allele Frequency Aggregator Other Sub 814 T=0.375 C=0.625
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.454 C=0.546
Allele Frequency Aggregator Asian Sub 148 T=0.520 C=0.480
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.384 C=0.616
Allele Frequency Aggregator South Asian Sub 106 T=0.226 C=0.774
8.3KJPN JAPANESE Study-wide 16760 T=0.49308 C=0.50692
1000Genomes_30x Global Study-wide 6404 T=0.3732 C=0.6268
1000Genomes_30x African Sub 1786 T=0.3460 C=0.6540
1000Genomes_30x Europe Sub 1266 T=0.3491 C=0.6509
1000Genomes_30x South Asian Sub 1202 T=0.2745 C=0.7255
1000Genomes_30x East Asian Sub 1170 T=0.5222 C=0.4778
1000Genomes_30x American Sub 980 T=0.397 C=0.603
1000Genomes Global Study-wide 5008 T=0.3722 C=0.6278
1000Genomes African Sub 1322 T=0.3555 C=0.6445
1000Genomes East Asian Sub 1008 T=0.5198 C=0.4802
1000Genomes Europe Sub 1006 T=0.3469 C=0.6531
1000Genomes South Asian Sub 978 T=0.260 C=0.740
1000Genomes American Sub 694 T=0.385 C=0.615
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3435 C=0.6565
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3594 C=0.6406
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3579 C=0.6421
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5253 C=0.4747, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.5175 C=0.4825
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.3915 C=0.6085
Genome-wide autozygosity in Daghestan Daghestan Sub 626 T=0.439 C=0.561
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.292 C=0.708
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.410 C=0.590
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.296 C=0.704
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.34 C=0.66
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.33 C=0.67
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.358 C=0.642
Northern Sweden ACPOP Study-wide 600 T=0.375 C=0.625
SGDP_PRJ Global Study-wide 454 T=0.264 C=0.736
HapMap Global Study-wide 326 T=0.294 C=0.706
HapMap American Sub 120 T=0.267 C=0.733
HapMap African Sub 116 T=0.267 C=0.733
HapMap Asian Sub 90 T=0.37 C=0.63
Qatari Global Study-wide 216 T=0.366 C=0.634
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.528 C=0.472
Siberian Global Study-wide 46 T=0.28 C=0.72
The Danish reference pan genome Danish Study-wide 40 T=0.40 C=0.60
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 20 NC_000020.11:g.3358798T>C
GRCh38.p14 chr 20 NC_000020.11:g.3358798T>G
GRCh37.p13 chr 20 NC_000020.10:g.3339445T>C
GRCh37.p13 chr 20 NC_000020.10:g.3339445T>G
DNAAF9 RefSeqGene NG_031974.2:g.53865A>G
DNAAF9 RefSeqGene NG_031974.2:g.53865A>C
Gene: DNAAF9, dynein axonemal assembly factor 9 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DNAAF9 transcript NM_001009984.3:c.690+718A…

NM_001009984.3:c.690+718A>G

N/A Intron Variant
DNAAF9 transcript variant X1 XM_005260684.5:c.690+718A…

XM_005260684.5:c.690+718A>G

N/A Intron Variant
DNAAF9 transcript variant X2 XM_047440081.1:c.690+718A…

XM_047440081.1:c.690+718A>G

N/A Intron Variant
DNAAF9 transcript variant X4 XM_005260687.6:c. N/A Genic Upstream Transcript Variant
DNAAF9 transcript variant X3 XM_011529208.4: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
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 G
GRCh38.p14 chr 20 NC_000020.11:g.3358798= NC_000020.11:g.3358798T>C NC_000020.11:g.3358798T>G
GRCh37.p13 chr 20 NC_000020.10:g.3339445= NC_000020.10:g.3339445T>C NC_000020.10:g.3339445T>G
DNAAF9 RefSeqGene NG_031974.2:g.53865= NG_031974.2:g.53865A>G NG_031974.2:g.53865A>C
C20orf194 transcript NM_001009984.2:c.690+718= NM_001009984.2:c.690+718A>G NM_001009984.2:c.690+718A>C
DNAAF9 transcript NM_001009984.3:c.690+718= NM_001009984.3:c.690+718A>G NM_001009984.3:c.690+718A>C
C20orf194 transcript variant X1 XM_005260684.1:c.690+718= XM_005260684.1:c.690+718A>G XM_005260684.1:c.690+718A>C
DNAAF9 transcript variant X1 XM_005260684.5:c.690+718= XM_005260684.5:c.690+718A>G XM_005260684.5:c.690+718A>C
C20orf194 transcript variant X2 XM_005260685.1:c.297+718= XM_005260685.1:c.297+718A>G XM_005260685.1:c.297+718A>C
C20orf194 transcript variant X3 XM_005260686.1:c.690+718= XM_005260686.1:c.690+718A>G XM_005260686.1:c.690+718A>C
DNAAF9 transcript variant X2 XM_047440081.1:c.690+718= XM_047440081.1:c.690+718A>G XM_047440081.1:c.690+718A>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#.

77 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8364305 Apr 21, 2003 (114)
2 BCM_SSAHASNP ss10950985 Jul 11, 2003 (117)
3 WI_SSAHASNP ss12479592 Jul 11, 2003 (117)
4 CSHL-HAPMAP ss20121329 Feb 27, 2004 (120)
5 ABI ss41378192 Mar 15, 2006 (126)
6 PERLEGEN ss69233710 May 16, 2007 (127)
7 BGI ss106175493 Feb 06, 2009 (130)
8 1000GENOMES ss111627113 Jan 25, 2009 (130)
9 1000GENOMES ss115381048 Jan 25, 2009 (130)
10 ENSEMBL ss161318568 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167694594 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss168907417 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss171834760 Jul 04, 2010 (132)
14 BUSHMAN ss203812483 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss208729321 Jul 04, 2010 (132)
16 1000GENOMES ss228225297 Jul 14, 2010 (132)
17 1000GENOMES ss237740519 Jul 15, 2010 (132)
18 1000GENOMES ss243931751 Jul 15, 2010 (132)
19 BL ss255439529 May 09, 2011 (134)
20 GMI ss283279021 May 04, 2012 (137)
21 GMI ss287412988 Apr 25, 2013 (138)
22 PJP ss292566008 May 09, 2011 (134)
23 TISHKOFF ss566100410 Apr 25, 2013 (138)
24 SSMP ss661970255 Apr 25, 2013 (138)
25 EVA-GONL ss994483631 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1082029324 Aug 21, 2014 (142)
27 1000GENOMES ss1363862520 Aug 21, 2014 (142)
28 HAMMER_LAB ss1397761669 Sep 08, 2015 (146)
29 DDI ss1428978986 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1579413707 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1638301955 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1681295988 Apr 01, 2015 (144)
33 EVA_DECODE ss1698538032 Apr 01, 2015 (144)
34 HAMMER_LAB ss1809396962 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1937992561 Feb 12, 2016 (147)
36 ILLUMINA ss1959893554 Feb 12, 2016 (147)
37 GENOMED ss1969077320 Jul 19, 2016 (147)
38 JJLAB ss2029773145 Sep 14, 2016 (149)
39 USC_VALOUEV ss2158327198 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2629383991 Nov 08, 2017 (151)
41 GRF ss2703998987 Nov 08, 2017 (151)
42 GNOMAD ss2964869933 Nov 08, 2017 (151)
43 SWEGEN ss3017784698 Nov 08, 2017 (151)
44 ILLUMINA ss3022095630 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3028718580 Nov 08, 2017 (151)
46 CSHL ss3352392974 Nov 08, 2017 (151)
47 ILLUMINA ss3652549738 Oct 12, 2018 (152)
48 EGCUT_WGS ss3684498337 Jul 13, 2019 (153)
49 EVA_DECODE ss3706455743 Jul 13, 2019 (153)
50 ILLUMINA ss3725895317 Jul 13, 2019 (153)
51 ACPOP ss3743202121 Jul 13, 2019 (153)
52 EVA ss3758358232 Jul 13, 2019 (153)
53 PAGE_CC ss3772032504 Jul 13, 2019 (153)
54 PACBIO ss3788584829 Jul 13, 2019 (153)
55 PACBIO ss3793487249 Jul 13, 2019 (153)
56 PACBIO ss3798374382 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3821529852 Jul 13, 2019 (153)
58 EVA ss3835559392 Apr 27, 2020 (154)
59 EVA ss3841403343 Apr 27, 2020 (154)
60 EVA ss3846910751 Apr 27, 2020 (154)
61 SGDP_PRJ ss3888623270 Apr 27, 2020 (154)
62 KRGDB ss3938804744 Apr 27, 2020 (154)
63 KOGIC ss3981728378 Apr 27, 2020 (154)
64 TOPMED ss5080540148 Apr 27, 2021 (155)
65 TOMMO_GENOMICS ss5228615475 Apr 27, 2021 (155)
66 1000G_HIGH_COVERAGE ss5307906948 Oct 13, 2022 (156)
67 EVA ss5435935407 Oct 13, 2022 (156)
68 HUGCELL_USP ss5500324729 Oct 13, 2022 (156)
69 EVA ss5512140310 Oct 13, 2022 (156)
70 1000G_HIGH_COVERAGE ss5613901662 Oct 13, 2022 (156)
71 SANFORD_IMAGENETICS ss5662761038 Oct 13, 2022 (156)
72 TOMMO_GENOMICS ss5787539913 Oct 13, 2022 (156)
73 YY_MCH ss5817770629 Oct 13, 2022 (156)
74 EVA ss5845372233 Oct 13, 2022 (156)
75 EVA ss5853045328 Oct 13, 2022 (156)
76 EVA ss5922469856 Oct 13, 2022 (156)
77 EVA ss5957658865 Oct 13, 2022 (156)
78 1000Genomes NC_000020.10 - 3339445 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000020.11 - 3358798 Oct 13, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 3339445 Oct 12, 2018 (152)
81 Genome-wide autozygosity in Daghestan NC_000020.9 - 3287445 Apr 27, 2020 (154)
82 Genetic variation in the Estonian population NC_000020.10 - 3339445 Oct 12, 2018 (152)
83 The Danish reference pan genome NC_000020.10 - 3339445 Apr 27, 2020 (154)
84 gnomAD - Genomes NC_000020.11 - 3358798 Apr 27, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000020.10 - 3339445 Apr 27, 2020 (154)
86 HapMap NC_000020.11 - 3358798 Apr 27, 2020 (154)
87 KOREAN population from KRGDB NC_000020.10 - 3339445 Apr 27, 2020 (154)
88 Korean Genome Project NC_000020.11 - 3358798 Apr 27, 2020 (154)
89 Northern Sweden NC_000020.10 - 3339445 Jul 13, 2019 (153)
90 The PAGE Study NC_000020.11 - 3358798 Jul 13, 2019 (153)
91 Qatari NC_000020.10 - 3339445 Apr 27, 2020 (154)
92 SGDP_PRJ NC_000020.10 - 3339445 Apr 27, 2020 (154)
93 Siberian NC_000020.10 - 3339445 Apr 27, 2020 (154)
94 8.3KJPN NC_000020.10 - 3339445 Apr 27, 2021 (155)
95 14KJPN NC_000020.11 - 3358798 Oct 13, 2022 (156)
96 TopMed NC_000020.11 - 3358798 Apr 27, 2021 (155)
97 UK 10K study - Twins NC_000020.10 - 3339445 Oct 12, 2018 (152)
98 A Vietnamese Genetic Variation Database NC_000020.10 - 3339445 Jul 13, 2019 (153)
99 ALFA NC_000020.11 - 3358798 Apr 27, 2021 (155)
Help

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

Associated ID History Updated (Build)
rs6515801 Aug 26, 2003 (117)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
275875, ss111627113, ss115381048, ss167694594, ss168907417, ss171834760, ss203812483, ss208729321, ss255439529, ss283279021, ss287412988, ss292566008, ss1397761669, ss1698538032 NC_000020.9:3287444:T:C NC_000020.11:3358797:T:C (self)
77294765, 42783721, 30236585, 5578646, 19063296, 45982138, 16486986, 20034483, 40640250, 10843552, 86584782, 42783721, 9444798, ss228225297, ss237740519, ss243931751, ss566100410, ss661970255, ss994483631, ss1082029324, ss1363862520, ss1428978986, ss1579413707, ss1638301955, ss1681295988, ss1809396962, ss1937992561, ss1959893554, ss1969077320, ss2029773145, ss2158327198, ss2629383991, ss2703998987, ss2964869933, ss3017784698, ss3022095630, ss3352392974, ss3652549738, ss3684498337, ss3743202121, ss3758358232, ss3788584829, ss3793487249, ss3798374382, ss3835559392, ss3841403343, ss3888623270, ss3938804744, ss5228615475, ss5435935407, ss5512140310, ss5662761038, ss5845372233, ss5957658865 NC_000020.10:3339444:T:C NC_000020.11:3358797:T:C (self)
101427597, 545054893, 2054538, 38106379, 1253973, 121377017, 355649093, 5106052119, ss3028718580, ss3706455743, ss3725895317, ss3772032504, ss3821529852, ss3846910751, ss3981728378, ss5080540148, ss5307906948, ss5500324729, ss5613901662, ss5787539913, ss5817770629, ss5853045328, ss5922469856 NC_000020.11:3358797:T:C NC_000020.11:3358797:T:C (self)
ss8364305, ss10950985, ss12479592, ss20121329, ss41378192, ss69233710, ss106175493, ss161318568 NT_011387.8:3279444:T:C NC_000020.11:3358797:T:C (self)
45982138, ss3938804744 NC_000020.10:3339444:T:G NC_000020.11:3358797: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.

No publications for rs6051788

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