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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.

rs175175

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:20141128 (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>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.242665 (64231/264690, TOPMED)
T=0.252064 (35301/140048, GnomAD)
T=0.29089 (5495/18890, ALFA) (+ 14 more)
T=0.20456 (3428/16758, 8.3KJPN)
T=0.2175 (1089/5008, 1000G)
T=0.3217 (1240/3854, ALSPAC)
T=0.3239 (1201/3708, TWINSUK)
T=0.1833 (536/2924, KOREAN)
T=0.340 (339/998, GoNL)
T=0.348 (209/600, NorthernSweden)
G=0.466 (249/534, MGP)
T=0.171 (88/516, SGDP_PRJ)
T=0.238 (78/328, HapMap)
T=0.314 (103/328, Vietnamese)
T=0.338 (73/216, Qatari)
T=0.21 (11/52, Siberian)
T=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZDHHC8 : Intron Variant
Publications
0 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.20141128T>C
GRCh38.p13 chr 22 NC_000022.11:g.20141128T>G
GRCh37.p13 chr 22 NC_000022.10:g.20128651T>C
GRCh37.p13 chr 22 NC_000022.10:g.20128651T>G
ZDHHC8 RefSeqGene NG_021420.1:g.14288T>C
ZDHHC8 RefSeqGene NG_021420.1:g.14288T>G
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.895-89T>C N/A Intron Variant
ZDHHC8 transcript variant 2 NM_013373.4:c.895-89T>C N/A Intron Variant
ZDHHC8 transcript variant X1 XM_006724239.2:c.895-89T>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 18890 T=0.29089 G=0.70911
European Sub 14286 T=0.32871 G=0.67129
African Sub 2946 T=0.1415 G=0.8585
African Others Sub 114 T=0.105 G=0.895
African American Sub 2832 T=0.1430 G=0.8570
Asian Sub 112 T=0.223 G=0.777
East Asian Sub 86 T=0.22 G=0.78
Other Asian Sub 26 T=0.23 G=0.77
Latin American 1 Sub 146 T=0.274 G=0.726
Latin American 2 Sub 610 T=0.184 G=0.816
South Asian Sub 98 T=0.26 G=0.74
Other Sub 692 T=0.260 G=0.740


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=0.242665 G=0.757335
gnomAD - Genomes Global Study-wide 140048 T=0.252064 G=0.747936
gnomAD - Genomes European Sub 75832 T=0.32372 G=0.67628
gnomAD - Genomes African Sub 41974 T=0.13287 G=0.86713
gnomAD - Genomes American Sub 13646 T=0.23304 G=0.76696
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.2676 G=0.7324
gnomAD - Genomes East Asian Sub 3124 T=0.1850 G=0.8150
gnomAD - Genomes Other Sub 2150 T=0.2460 G=0.7540
8.3KJPN JAPANESE Study-wide 16758 T=0.20456 G=0.79544
1000Genomes Global Study-wide 5008 T=0.2175 G=0.7825
1000Genomes African Sub 1322 T=0.1248 G=0.8752
1000Genomes East Asian Sub 1008 T=0.1925 G=0.8075
1000Genomes Europe Sub 1006 T=0.3042 G=0.6958
1000Genomes South Asian Sub 978 T=0.304 G=0.696
1000Genomes American Sub 694 T=0.183 G=0.817
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3217 G=0.6783
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3239 G=0.6761
KOREAN population from KRGDB KOREAN Study-wide 2924 T=0.1833 C=0.0000, G=0.8167
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.340 G=0.660
Northern Sweden ACPOP Study-wide 600 T=0.348 G=0.652
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.534 G=0.466
SGDP_PRJ Global Study-wide 516 T=0.171 G=0.829
HapMap Global Study-wide 328 T=0.238 G=0.762
HapMap African Sub 120 T=0.100 G=0.900
HapMap American Sub 120 T=0.325 G=0.675
HapMap Asian Sub 88 T=0.31 G=0.69
A Vietnamese Genetic Variation Database Global Study-wide 328 T=0.314 G=0.686
Qatari Global Study-wide 216 T=0.338 G=0.662
Siberian Global Study-wide 52 T=0.21 G=0.79
The Danish reference pan genome Danish Study-wide 40 T=0.42 G=0.57
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.p13 chr 22 NC_000022.11:g.20141128= NC_000022.11:g.20141128T>C NC_000022.11:g.20141128T>G
GRCh37.p13 chr 22 NC_000022.10:g.20128651= NC_000022.10:g.20128651T>C NC_000022.10:g.20128651T>G
ZDHHC8 RefSeqGene NG_021420.1:g.14288= NG_021420.1:g.14288T>C NG_021420.1:g.14288T>G
ZDHHC8 transcript variant 1 NM_001185024.1:c.895-89= NM_001185024.1:c.895-89T>C NM_001185024.1:c.895-89T>G
ZDHHC8 transcript variant 1 NM_001185024.2:c.895-89= NM_001185024.2:c.895-89T>C NM_001185024.2:c.895-89T>G
ZDHHC8 transcript variant 2 NM_013373.3:c.895-89= NM_013373.3:c.895-89T>C NM_013373.3:c.895-89T>G
ZDHHC8 transcript variant 2 NM_013373.4:c.895-89= NM_013373.4:c.895-89T>C NM_013373.4:c.895-89T>G
ZDHHC8 transcript variant X1 XM_006724239.2:c.895-89= XM_006724239.2:c.895-89T>C XM_006724239.2:c.895-89T>G
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, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss233193 Jul 12, 2000 (79)
2 SC_JCM ss480796 Jul 16, 2000 (80)
3 SC ss869606 Aug 11, 2000 (85)
4 KWOK ss1750496 Oct 18, 2000 (87)
5 SC_SNP ss8287616 Apr 21, 2003 (114)
6 BCM_SSAHASNP ss11010281 Jul 11, 2003 (116)
7 SC_SNP ss13344478 Dec 05, 2003 (119)
8 ABI ss44323912 Mar 14, 2006 (126)
9 KRIBB_YJKIM ss65825282 Nov 30, 2006 (127)
10 HGSV ss77728308 Dec 07, 2007 (129)
11 HGSV ss80504485 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss80750560 Dec 15, 2007 (130)
13 HGSV ss84843724 Dec 15, 2007 (130)
14 HGSV ss85792603 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss91877947 Mar 24, 2008 (129)
16 BGI ss103842085 Dec 01, 2009 (131)
17 1000GENOMES ss112552380 Jan 25, 2009 (130)
18 1000GENOMES ss114037633 Jan 25, 2009 (130)
19 ILLUMINA-UK ss117362557 Feb 14, 2009 (130)
20 ENSEMBL ss138335422 Dec 01, 2009 (131)
21 GMI ss157035759 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss167686755 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss168894691 Jul 04, 2010 (132)
24 BUSHMAN ss204050885 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208849985 Jul 04, 2010 (132)
26 1000GENOMES ss228618754 Jul 14, 2010 (132)
27 1000GENOMES ss238022885 Jul 15, 2010 (132)
28 1000GENOMES ss244152105 Jul 15, 2010 (132)
29 BL ss255843269 May 09, 2011 (134)
30 GMI ss283587637 May 04, 2012 (137)
31 GMI ss287550348 Apr 25, 2013 (138)
32 PJP ss292736545 May 09, 2011 (134)
33 CLINSEQ_SNP ss491819685 May 04, 2012 (137)
34 TISHKOFF ss566561608 Apr 25, 2013 (138)
35 SSMP ss662484719 Apr 25, 2013 (138)
36 EVA-GONL ss995224293 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1067603938 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1082571360 Aug 21, 2014 (142)
39 1000GENOMES ss1366688759 Aug 21, 2014 (142)
40 DDI ss1429220208 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1579704745 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1639756782 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1682750815 Apr 01, 2015 (144)
44 EVA_DECODE ss1699293449 Apr 01, 2015 (144)
45 EVA_MGP ss1711560673 Apr 01, 2015 (144)
46 HAMMER_LAB ss1809734499 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1938785719 Feb 12, 2016 (147)
48 JJLAB ss2030166030 Sep 14, 2016 (149)
49 ILLUMINA ss2094811023 Dec 20, 2016 (150)
50 USC_VALOUEV ss2158776115 Dec 20, 2016 (150)
51 TOPMED ss2413296285 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2629581230 Nov 08, 2017 (151)
53 GRF ss2704518977 Nov 08, 2017 (151)
54 GNOMAD ss2973002508 Nov 08, 2017 (151)
55 SWEGEN ss3019088726 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3028920716 Nov 08, 2017 (151)
57 CSHL ss3352777042 Nov 08, 2017 (151)
58 TOPMED ss3374097585 Nov 08, 2017 (151)
59 OMUKHERJEE_ADBS ss3646561343 Oct 12, 2018 (152)
60 URBANLAB ss3651152078 Oct 12, 2018 (152)
61 EVA_DECODE ss3707957802 Jul 13, 2019 (153)
62 ACPOP ss3743824513 Jul 13, 2019 (153)
63 EVA ss3759232888 Jul 13, 2019 (153)
64 PACBIO ss3788793837 Jul 13, 2019 (153)
65 PACBIO ss3793664876 Jul 13, 2019 (153)
66 PACBIO ss3798551204 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3822400374 Jul 13, 2019 (153)
68 EVA ss3825965718 Apr 27, 2020 (154)
69 EVA ss3835928504 Apr 27, 2020 (154)
70 EVA ss3841592646 Apr 27, 2020 (154)
71 EVA ss3847107309 Apr 27, 2020 (154)
72 SGDP_PRJ ss3890259502 Apr 27, 2020 (154)
73 KRGDB ss3940643904 Apr 27, 2020 (154)
74 FSA-LAB ss3984229991 Apr 27, 2021 (155)
75 TOPMED ss5105158264 Apr 27, 2021 (155)
76 TOMMO_GENOMICS ss5232046995 Apr 27, 2021 (155)
77 EVA ss5237254871 Apr 27, 2021 (155)
78 1000Genomes NC_000022.10 - 20128651 Oct 12, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 20128651 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000022.10 - 20128651 Apr 27, 2020 (154)
81 gnomAD - Genomes NC_000022.11 - 20141128 Apr 27, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000022.10 - 20128651 Apr 27, 2020 (154)
83 HapMap NC_000022.11 - 20141128 Apr 27, 2020 (154)
84 KOREAN population from KRGDB NC_000022.10 - 20128651 Apr 27, 2020 (154)
85 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 20128651 Apr 27, 2020 (154)
86 Northern Sweden NC_000022.10 - 20128651 Jul 13, 2019 (153)
87 Qatari NC_000022.10 - 20128651 Apr 27, 2020 (154)
88 SGDP_PRJ NC_000022.10 - 20128651 Apr 27, 2020 (154)
89 Siberian NC_000022.10 - 20128651 Apr 27, 2020 (154)
90 8.3KJPN NC_000022.10 - 20128651 Apr 27, 2021 (155)
91 TopMed NC_000022.11 - 20141128 Apr 27, 2021 (155)
92 UK 10K study - Twins NC_000022.10 - 20128651 Oct 12, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000022.10 - 20128651 Jul 13, 2019 (153)
94 ALFA NC_000022.11 - 20141128 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)
rs695773 Sep 19, 2000 (85)
rs60163529 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47821298, ss3940643904 NC_000022.10:20128650:T:C NC_000022.11:20141127:T:C (self)
ss77728308, ss80504485, ss84843724, ss85792603 NC_000022.8:18503204:T:G NC_000022.11:20141127:T:G (self)
ss91877947, ss112552380, ss114037633, ss117362557, ss167686755, ss168894691, ss204050885, ss208849985, ss255843269, ss283587637, ss287550348, ss292736545, ss491819685, ss1699293449 NC_000022.9:18508650:T:G NC_000022.11:20141127:T:G (self)
80223353, 44385052, 5869684, 19775284, 47821298, 676433, 17109378, 20827641, 42276482, 11292469, 90016302, 44385052, 9793264, ss228618754, ss238022885, ss244152105, ss566561608, ss662484719, ss995224293, ss1067603938, ss1082571360, ss1366688759, ss1429220208, ss1579704745, ss1639756782, ss1682750815, ss1711560673, ss1809734499, ss1938785719, ss2030166030, ss2094811023, ss2158776115, ss2413296285, ss2629581230, ss2704518977, ss2973002508, ss3019088726, ss3352777042, ss3646561343, ss3743824513, ss3759232888, ss3788793837, ss3793664876, ss3798551204, ss3825965718, ss3835928504, ss3841592646, ss3890259502, ss3940643904, ss3984229991, ss5232046995 NC_000022.10:20128650:T:G NC_000022.11:20141127:T:G (self)
566584090, 2228211, 237475517, 380267211, 2883620945, ss3028920716, ss3374097585, ss3651152078, ss3707957802, ss3822400374, ss3847107309, ss5105158264, ss5237254871 NC_000022.11:20141127:T:G NC_000022.11:20141127:T:G (self)
ss233193, ss480796, ss869606, ss1750496, ss8287616, ss11010281, ss13344478, ss44323912, ss65825282, ss80750560, ss103842085, ss138335422, ss157035759 NT_011519.10:3280800:T:G NC_000022.11:20141127: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 rs175175

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.post596+ae089ad