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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.

rs175174

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:20140031 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.448578 (118734/264690, TOPMED)
G=0.397342 (87555/220352, ALFA)
G=0.436931 (61110/139862, GnomAD) (+ 16 more)
A=0.48537 (38153/78606, PAGE_STUDY)
A=0.39180 (6565/16756, 8.3KJPN)
A=0.4794 (2401/5008, 1000G)
G=0.4085 (1830/4480, Estonian)
G=0.3874 (1493/3854, ALSPAC)
G=0.3851 (1428/3708, TWINSUK)
A=0.3669 (1075/2930, KOREAN)
G=0.4873 (919/1886, HapMap)
A=0.3461 (634/1832, Korea1K)
G=0.383 (382/998, GoNL)
G=0.407 (244/600, NorthernSweden)
G=0.288 (154/534, MGP)
A=0.310 (129/416, SGDP_PRJ)
G=0.315 (68/216, Qatari)
G=0.28 (11/40, GENOME_DK)
A=0.44 (16/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZDHHC8 : Intron Variant
Publications
17 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 22 NC_000022.11:g.20140031A>C
GRCh38.p13 chr 22 NC_000022.11:g.20140031A>G
GRCh38.p13 chr 22 NC_000022.11:g.20140031A>T
GRCh37.p13 chr 22 NC_000022.10:g.20127554A>C
GRCh37.p13 chr 22 NC_000022.10:g.20127554A>G
GRCh37.p13 chr 22 NC_000022.10:g.20127554A>T
ZDHHC8 RefSeqGene NG_021420.1:g.13191A>C
ZDHHC8 RefSeqGene NG_021420.1:g.13191A>G
ZDHHC8 RefSeqGene NG_021420.1:g.13191A>T
Gene: ZDHHC8, zinc finger DHHC-type palmitoyltransferase 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZDHHC8 transcript variant 1 NM_001185024.2:c.558-84A>C N/A Intron Variant
ZDHHC8 transcript variant 2 NM_013373.4:c.558-84A>C N/A Intron Variant
ZDHHC8 transcript variant X1 XM_006724239.2:c.558-84A>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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 220352 A=0.602658 G=0.397342
European Sub 187840 A=0.621007 G=0.378993
African Sub 7212 A=0.5257 G=0.4743
African Others Sub 244 A=0.500 G=0.500
African American Sub 6968 A=0.5265 G=0.4735
Asian Sub 3688 A=0.3251 G=0.6749
East Asian Sub 2364 A=0.3350 G=0.6650
Other Asian Sub 1324 A=0.3074 G=0.6926
Latin American 1 Sub 748 A=0.582 G=0.418
Latin American 2 Sub 6288 A=0.4146 G=0.5854
South Asian Sub 190 A=0.453 G=0.547
Other Sub 14386 A=0.55811 G=0.44189


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 A=0.551422 G=0.448578
gnomAD - Genomes Global Study-wide 139862 A=0.563069 G=0.436931
gnomAD - Genomes European Sub 75758 A=0.60928 G=0.39072
gnomAD - Genomes African Sub 41866 A=0.51698 G=0.48302
gnomAD - Genomes American Sub 13636 A=0.50015 G=0.49985
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.5900 G=0.4100
gnomAD - Genomes East Asian Sub 3130 A=0.3147 G=0.6853
gnomAD - Genomes Other Sub 2150 A=0.5512 G=0.4488
The PAGE Study Global Study-wide 78606 A=0.48537 G=0.51463
The PAGE Study AfricanAmerican Sub 32470 A=0.52510 G=0.47490
The PAGE Study Mexican Sub 10806 A=0.42097 G=0.57903
The PAGE Study Asian Sub 8306 A=0.3808 G=0.6192
The PAGE Study PuertoRican Sub 7906 A=0.5368 G=0.4632
The PAGE Study NativeHawaiian Sub 4520 A=0.3489 G=0.6511
The PAGE Study Cuban Sub 4230 A=0.5927 G=0.4073
The PAGE Study Dominican Sub 3828 A=0.5489 G=0.4511
The PAGE Study CentralAmerican Sub 2448 A=0.4330 G=0.5670
The PAGE Study SouthAmerican Sub 1978 A=0.4444 G=0.5556
The PAGE Study NativeAmerican Sub 1260 A=0.4937 G=0.5063
The PAGE Study SouthAsian Sub 854 A=0.470 G=0.530
8.3KJPN JAPANESE Study-wide 16756 A=0.39180 G=0.60820
1000Genomes Global Study-wide 5008 A=0.4794 G=0.5206
1000Genomes African Sub 1322 A=0.5136 G=0.4864
1000Genomes East Asian Sub 1008 A=0.3105 G=0.6895
1000Genomes Europe Sub 1006 A=0.6163 G=0.3837
1000Genomes South Asian Sub 978 A=0.481 G=0.519
1000Genomes American Sub 694 A=0.460 G=0.540
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5915 G=0.4085
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6126 G=0.3874
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6149 G=0.3851
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3669 C=0.0000, G=0.6331, T=0.0000
HapMap Global Study-wide 1886 A=0.5127 G=0.4873
HapMap American Sub 768 A=0.482 G=0.518
HapMap African Sub 692 A=0.555 G=0.445
HapMap Asian Sub 250 A=0.380 G=0.620
HapMap Europe Sub 176 A=0.670 G=0.330
Korean Genome Project KOREAN Study-wide 1832 A=0.3461 G=0.6539
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.617 G=0.383
Northern Sweden ACPOP Study-wide 600 A=0.593 G=0.407
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.712 G=0.288
SGDP_PRJ Global Study-wide 416 A=0.310 G=0.690
Qatari Global Study-wide 216 A=0.685 G=0.315
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Siberian Global Study-wide 36 A=0.44 G=0.56
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 A= C G T
GRCh38.p13 chr 22 NC_000022.11:g.20140031= NC_000022.11:g.20140031A>C NC_000022.11:g.20140031A>G NC_000022.11:g.20140031A>T
GRCh37.p13 chr 22 NC_000022.10:g.20127554= NC_000022.10:g.20127554A>C NC_000022.10:g.20127554A>G NC_000022.10:g.20127554A>T
ZDHHC8 RefSeqGene NG_021420.1:g.13191= NG_021420.1:g.13191A>C NG_021420.1:g.13191A>G NG_021420.1:g.13191A>T
ZDHHC8 transcript variant 1 NM_001185024.1:c.558-84= NM_001185024.1:c.558-84A>C NM_001185024.1:c.558-84A>G NM_001185024.1:c.558-84A>T
ZDHHC8 transcript variant 1 NM_001185024.2:c.558-84= NM_001185024.2:c.558-84A>C NM_001185024.2:c.558-84A>G NM_001185024.2:c.558-84A>T
ZDHHC8 transcript variant 2 NM_013373.3:c.558-84= NM_013373.3:c.558-84A>C NM_013373.3:c.558-84A>G NM_013373.3:c.558-84A>T
ZDHHC8 transcript variant 2 NM_013373.4:c.558-84= NM_013373.4:c.558-84A>C NM_013373.4:c.558-84A>G NM_013373.4:c.558-84A>T
ZDHHC8 transcript variant X1 XM_006724239.2:c.558-84= XM_006724239.2:c.558-84A>C XM_006724239.2:c.558-84A>G XM_006724239.2:c.558-84A>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#.

135 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss233192 Jul 12, 2000 (79)
2 KWOK ss1750495 Oct 18, 2000 (87)
3 SC_JCM ss2451775 Nov 09, 2000 (92)
4 YUSUKE ss3227542 Sep 28, 2001 (100)
5 SC_SNP ss13344477 Dec 05, 2003 (119)
6 ABI ss44331068 Mar 13, 2006 (126)
7 ILLUMINA ss65764580 Oct 16, 2006 (127)
8 KRIBB_YJKIM ss65825281 Dec 01, 2006 (127)
9 ILLUMINA ss74866201 Dec 06, 2007 (129)
10 KRIBB_YJKIM ss80750557 Dec 16, 2007 (130)
11 HGSV ss80815856 Dec 16, 2007 (130)
12 HGSV ss85891495 Dec 16, 2007 (130)
13 HGSV ss85897570 Dec 16, 2007 (130)
14 BCMHGSC_JDW ss91877944 Mar 24, 2008 (129)
15 BGI ss103842082 Dec 01, 2009 (131)
16 1000GENOMES ss112552376 Jan 25, 2009 (130)
17 1000GENOMES ss114037624 Jan 25, 2009 (130)
18 ILLUMINA-UK ss117362555 Feb 14, 2009 (130)
19 KRIBB_YJKIM ss119342863 Dec 01, 2009 (131)
20 ENSEMBL ss138335421 Dec 01, 2009 (131)
21 GMI ss157035753 Dec 01, 2009 (131)
22 ILLUMINA ss160446420 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss167686744 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss168894675 Jul 04, 2010 (132)
25 ILLUMINA ss172843109 Jul 04, 2010 (132)
26 BUSHMAN ss204050883 Jul 04, 2010 (132)
27 1000GENOMES ss228618753 Jul 14, 2010 (132)
28 1000GENOMES ss238022884 Jul 15, 2010 (132)
29 1000GENOMES ss244152104 Jul 15, 2010 (132)
30 BL ss255843266 May 09, 2011 (134)
31 GMI ss283587636 May 04, 2012 (137)
32 PJP ss292736543 May 09, 2011 (134)
33 ILLUMINA ss480249059 May 04, 2012 (137)
34 ILLUMINA ss480259911 May 04, 2012 (137)
35 ILLUMINA ss481001732 Sep 08, 2015 (146)
36 ILLUMINA ss484922457 May 04, 2012 (137)
37 EXOME_CHIP ss491568556 May 04, 2012 (137)
38 ILLUMINA ss536972349 Sep 08, 2015 (146)
39 TISHKOFF ss566561605 Apr 25, 2013 (138)
40 SSMP ss662484714 Apr 25, 2013 (138)
41 ILLUMINA ss778462156 Sep 08, 2015 (146)
42 ILLUMINA ss780799691 Sep 08, 2015 (146)
43 ILLUMINA ss782907567 Sep 08, 2015 (146)
44 ILLUMINA ss783481048 Sep 08, 2015 (146)
45 ILLUMINA ss783870828 Sep 08, 2015 (146)
46 ILLUMINA ss832162460 Sep 08, 2015 (146)
47 ILLUMINA ss833917865 Sep 08, 2015 (146)
48 EVA-GONL ss995224290 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1082571359 Aug 21, 2014 (142)
50 1000GENOMES ss1366688726 Aug 21, 2014 (142)
51 DDI ss1429220207 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1579704743 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1639756769 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1682750802 Apr 01, 2015 (144)
55 EVA_DECODE ss1699293444 Apr 01, 2015 (144)
56 EVA_MGP ss1711560671 Apr 01, 2015 (144)
57 EVA_SVP ss1713731398 Apr 01, 2015 (144)
58 ILLUMINA ss1752414146 Sep 08, 2015 (146)
59 ILLUMINA ss1752414147 Sep 08, 2015 (146)
60 HAMMER_LAB ss1809734498 Sep 08, 2015 (146)
61 ILLUMINA ss1917953515 Feb 12, 2016 (147)
62 WEILL_CORNELL_DGM ss1938785713 Feb 12, 2016 (147)
63 ILLUMINA ss1946578059 Feb 12, 2016 (147)
64 ILLUMINA ss1946578062 Feb 12, 2016 (147)
65 ILLUMINA ss1959965997 Feb 12, 2016 (147)
66 ILLUMINA ss1959965998 Feb 12, 2016 (147)
67 GENOMED ss1969247153 Jul 19, 2016 (147)
68 JJLAB ss2030166027 Sep 14, 2016 (149)
69 USC_VALOUEV ss2158776112 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2246468932 Dec 20, 2016 (150)
71 TOPMED ss2413296215 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629581229 Nov 08, 2017 (151)
73 ILLUMINA ss2633863019 Nov 08, 2017 (151)
74 ILLUMINA ss2635110839 Nov 08, 2017 (151)
75 GRF ss2704518973 Nov 08, 2017 (151)
76 ILLUMINA ss2710952938 Nov 08, 2017 (151)
77 GNOMAD ss2973002414 Nov 08, 2017 (151)
78 AFFY ss2985850806 Nov 08, 2017 (151)
79 SWEGEN ss3019088722 Nov 08, 2017 (151)
80 ILLUMINA ss3022172178 Nov 08, 2017 (151)
81 ILLUMINA ss3022172179 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3028920715 Nov 08, 2017 (151)
83 CSHL ss3352777040 Nov 08, 2017 (151)
84 TOPMED ss3374097396 Nov 08, 2017 (151)
85 ILLUMINA ss3625799546 Oct 12, 2018 (152)
86 ILLUMINA ss3628506456 Oct 12, 2018 (152)
87 ILLUMINA ss3628506457 Oct 12, 2018 (152)
88 ILLUMINA ss3631815367 Oct 12, 2018 (152)
89 ILLUMINA ss3633268942 Oct 12, 2018 (152)
90 ILLUMINA ss3633984349 Oct 12, 2018 (152)
91 ILLUMINA ss3634861123 Oct 12, 2018 (152)
92 ILLUMINA ss3634861124 Oct 12, 2018 (152)
93 ILLUMINA ss3635668982 Oct 12, 2018 (152)
94 ILLUMINA ss3636556714 Oct 12, 2018 (152)
95 ILLUMINA ss3637421176 Oct 12, 2018 (152)
96 ILLUMINA ss3638374592 Oct 12, 2018 (152)
97 ILLUMINA ss3640568424 Oct 12, 2018 (152)
98 ILLUMINA ss3640568425 Oct 12, 2018 (152)
99 ILLUMINA ss3641136409 Oct 12, 2018 (152)
100 ILLUMINA ss3641432794 Oct 12, 2018 (152)
101 ILLUMINA ss3643334988 Oct 12, 2018 (152)
102 ILLUMINA ss3644796453 Oct 12, 2018 (152)
103 ILLUMINA ss3644796454 Oct 12, 2018 (152)
104 OMUKHERJEE_ADBS ss3646561342 Oct 12, 2018 (152)
105 ILLUMINA ss3652633738 Oct 12, 2018 (152)
106 ILLUMINA ss3652633739 Oct 12, 2018 (152)
107 EGCUT_WGS ss3685621242 Jul 13, 2019 (153)
108 EVA_DECODE ss3707957791 Jul 13, 2019 (153)
109 ILLUMINA ss3725957731 Jul 13, 2019 (153)
110 ACPOP ss3743824512 Jul 13, 2019 (153)
111 ILLUMINA ss3744205073 Jul 13, 2019 (153)
112 ILLUMINA ss3744500576 Jul 13, 2019 (153)
113 ILLUMINA ss3745160952 Jul 13, 2019 (153)
114 ILLUMINA ss3745160953 Jul 13, 2019 (153)
115 EVA ss3759232875 Jul 13, 2019 (153)
116 PAGE_CC ss3772082465 Jul 13, 2019 (153)
117 ILLUMINA ss3772656931 Jul 13, 2019 (153)
118 ILLUMINA ss3772656932 Jul 13, 2019 (153)
119 PACBIO ss3788793836 Jul 13, 2019 (153)
120 PACBIO ss3793664875 Jul 13, 2019 (153)
121 PACBIO ss3798551203 Jul 13, 2019 (153)
122 KHV_HUMAN_GENOMES ss3822400369 Jul 13, 2019 (153)
123 EVA ss3825965713 Apr 27, 2020 (154)
124 EVA ss3835928503 Apr 27, 2020 (154)
125 SGDP_PRJ ss3890259491 Apr 27, 2020 (154)
126 KRGDB ss3940643890 Apr 27, 2020 (154)
127 KOGIC ss3983392973 Apr 27, 2020 (154)
128 FSA-LAB ss3984229990 Apr 27, 2021 (155)
129 EVA ss3984758390 Apr 27, 2021 (155)
130 EVA ss3984758391 Apr 27, 2021 (155)
131 EVA ss3986853713 Apr 27, 2021 (155)
132 EVA ss4017873787 Apr 27, 2021 (155)
133 TOPMED ss5105157996 Apr 27, 2021 (155)
134 TOMMO_GENOMICS ss5232046963 Apr 27, 2021 (155)
135 EVA ss5237254870 Apr 27, 2021 (155)
136 1000Genomes NC_000022.10 - 20127554 Oct 12, 2018 (152)
137 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 20127554 Oct 12, 2018 (152)
138 Genetic variation in the Estonian population NC_000022.10 - 20127554 Oct 12, 2018 (152)
139 The Danish reference pan genome NC_000022.10 - 20127554 Apr 27, 2020 (154)
140 gnomAD - Genomes NC_000022.11 - 20140031 Apr 27, 2021 (155)
141 Genome of the Netherlands Release 5 NC_000022.10 - 20127554 Apr 27, 2020 (154)
142 HapMap NC_000022.11 - 20140031 Apr 27, 2020 (154)
143 KOREAN population from KRGDB NC_000022.10 - 20127554 Apr 27, 2020 (154)
144 Korean Genome Project NC_000022.11 - 20140031 Apr 27, 2020 (154)
145 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 20127554 Apr 27, 2020 (154)
146 Northern Sweden NC_000022.10 - 20127554 Jul 13, 2019 (153)
147 The PAGE Study NC_000022.11 - 20140031 Jul 13, 2019 (153)
148 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 307971 (NC_000022.10:20127553:A:G 486/718)
Row 307972 (NC_000022.10:20127553:A:G 486/712)

- Apr 27, 2021 (155)
149 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 307971 (NC_000022.10:20127553:A:G 486/718)
Row 307972 (NC_000022.10:20127553:A:G 486/712)

- Apr 27, 2021 (155)
150 Qatari NC_000022.10 - 20127554 Apr 27, 2020 (154)
151 SGDP_PRJ NC_000022.10 - 20127554 Apr 27, 2020 (154)
152 Siberian NC_000022.10 - 20127554 Apr 27, 2020 (154)
153 8.3KJPN NC_000022.10 - 20127554 Apr 27, 2021 (155)
154 TopMed NC_000022.11 - 20140031 Apr 27, 2021 (155)
155 UK 10K study - Twins NC_000022.10 - 20127554 Oct 12, 2018 (152)
156 ALFA NC_000022.11 - 20140031 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)
rs1633448 Jan 18, 2001 (92)
rs61658230 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47821284, ss3940643890 NC_000022.10:20127553:A:C NC_000022.11:20140030:A:C (self)
ss80815856, ss85891495, ss85897570 NC_000022.8:18502107:A:G NC_000022.11:20140030:A:G (self)
ss91877944, ss112552376, ss114037624, ss117362555, ss167686744, ss168894675, ss204050883, ss255843266, ss283587636, ss292736543, ss480249059, ss1699293444, ss1713731398, ss2635110839, ss3643334988 NC_000022.9:18507553:A:G NC_000022.11:20140030:A:G (self)
80223320, 44385038, 31359490, 5869682, 19775281, 47821284, 676431, 17109377, 20827635, 42276471, 11292466, 90016270, 44385038, ss228618753, ss238022884, ss244152104, ss480259911, ss481001732, ss484922457, ss491568556, ss536972349, ss566561605, ss662484714, ss778462156, ss780799691, ss782907567, ss783481048, ss783870828, ss832162460, ss833917865, ss995224290, ss1082571359, ss1366688726, ss1429220207, ss1579704743, ss1639756769, ss1682750802, ss1711560671, ss1752414146, ss1752414147, ss1809734498, ss1917953515, ss1938785713, ss1946578059, ss1946578062, ss1959965997, ss1959965998, ss1969247153, ss2030166027, ss2158776112, ss2413296215, ss2629581229, ss2633863019, ss2704518973, ss2710952938, ss2973002414, ss2985850806, ss3019088722, ss3022172178, ss3022172179, ss3352777040, ss3625799546, ss3628506456, ss3628506457, ss3631815367, ss3633268942, ss3633984349, ss3634861123, ss3634861124, ss3635668982, ss3636556714, ss3637421176, ss3638374592, ss3640568424, ss3640568425, ss3641136409, ss3641432794, ss3644796453, ss3644796454, ss3646561342, ss3652633738, ss3652633739, ss3685621242, ss3743824512, ss3744205073, ss3744500576, ss3745160952, ss3745160953, ss3759232875, ss3772656931, ss3772656932, ss3788793836, ss3793664875, ss3798551203, ss3825965713, ss3835928503, ss3890259491, ss3940643890, ss3984229990, ss3984758390, ss3984758391, ss3986853713, ss4017873787, ss5232046963 NC_000022.10:20127553:A:G NC_000022.11:20140030:A:G (self)
566583872, 2228210, 39770974, 1303934, 237475335, 380266943, 12575301891, ss2246468932, ss3028920715, ss3374097396, ss3707957791, ss3725957731, ss3772082465, ss3822400369, ss3983392973, ss5105157996, ss5237254870 NC_000022.11:20140030:A:G NC_000022.11:20140030:A:G (self)
ss233192, ss1750495, ss2451775, ss3227542, ss13344477, ss44331068, ss65764580, ss65825281, ss74866201, ss80750557, ss103842082, ss119342863, ss138335421, ss157035753, ss160446420, ss172843109 NT_011519.10:3279703:A:G NC_000022.11:20140030:A:G (self)
47821284, ss3940643890 NC_000022.10:20127553:A:T NC_000022.11:20140030:A:T (self)
Help

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

17 citations for rs175174
PMID Title Author Year Journal
15184899 Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia. Mukai J et al. 2004 Nature genetics
15489219 Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8. Chen WY et al. 2004 Human molecular genetics
15631889 No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population. Saito S et al. 2005 Neuroscience letters
15992527 No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples. Glaser B et al. 2005 Biological psychiatry
16150541 The ZDHHC8 gene did not associate with bipolar disorder or schizophrenia. Otani K et al. 2005 Neuroscience letters
16225675 ZDHHC8 as a candidate gene for schizophrenia: analysis of a putative functional intronic marker in case-control and family-based association studies. Faul T et al. 2005 BMC psychiatry
16860541 Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility. Glaser B et al. 2006 Schizophrenia research
17622328 Analysis of TBX1 variation in patients with psychotic and affective disorders. Funke BH et al. 2007 Molecular medicine (Cambridge, Mass.)
17728672 ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia. Demily C et al. 2007 Psychiatric genetics
18075473 HTF9C gene of 22q11.21 region associates with schizophrenia having deficit-sustained attention. Liu YL et al. 2007 Psychiatric genetics
19197363 A genome-wide investigation of SNPs and CNVs in schizophrenia. Need AC et al. 2009 PLoS genetics
20661937 Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets. Xu M et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
22763378 Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms. Shashi V et al. 2012 European journal of human genetics
23403413 ZDHHC8 gene may play a role in cortical volumes of patients with schizophrenia. Ota VK et al. 2013 Schizophrenia research
27909454 Linkage and Association Analyses of Schizophrenia with Genetic Variations on Chromosome 22q11 in Koreans. Yoon SC et al. 2016 Psychiatry investigation
28332369 Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population. Shin JG et al. 2017 Yonsei medical journal
28562378 Lack of association between COMT Val158Met and ZDHHC8 rs175174 polymorphisms and susceptibility to schizophrenia in a Brazilian population. Moraes LS et al. 2017 Psychiatric 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
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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.post596+ae089ad