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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.

rs119103286

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:88841196 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000038 (10/264690, TOPMED)
A=0.000064 (16/250626, GnomAD_exome)
A=0.000036 (5/140110, GnomAD) (+ 4 more)
A=0.000092 (11/119892, ExAC)
A=0.00015 (14/92390, ALFA)
A=0.00004 (3/78638, PAGE_STUDY)
A=0.0002 (1/4480, Estonian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTC8 : Synonymous Variant
Publications
3 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 92510 G=0.99985 A=0.00015
European Sub 78710 G=0.99983 A=0.00017
African Sub 4068 G=1.0000 A=0.0000
African Others Sub 124 G=1.000 A=0.000
African American Sub 3944 G=1.0000 A=0.0000
Asian Sub 228 G=1.000 A=0.000
East Asian Sub 146 G=1.000 A=0.000
Other Asian Sub 82 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 630 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 8624 G=0.9999 A=0.0001


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 G=0.999962 A=0.000038
gnomAD - Exomes Global Study-wide 250626 G=0.999936 A=0.000064
gnomAD - Exomes European Sub 134802 G=0.999889 A=0.000111
gnomAD - Exomes Asian Sub 48974 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34482 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16208 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6102 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140110 G=0.999964 A=0.000036
gnomAD - Genomes European Sub 75882 G=0.99993 A=0.00007
gnomAD - Genomes African Sub 41994 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13636 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 A=0.0000
ExAC Global Study-wide 119892 G=0.999908 A=0.000092
ExAC Europe Sub 72460 G=0.99986 A=0.00014
ExAC Asian Sub 24962 G=1.00000 A=0.00000
ExAC American Sub 11370 G=0.99991 A=0.00009
ExAC African Sub 10204 G=1.00000 A=0.00000
ExAC Other Sub 896 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 92390 G=0.99985 A=0.00015
Allele Frequency Aggregator European Sub 78608 G=0.99983 A=0.00017
Allele Frequency Aggregator Other Sub 8620 G=0.9999 A=0.0001
Allele Frequency Aggregator African Sub 4054 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 630 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 228 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 A=0.000
The PAGE Study Global Study-wide 78638 G=0.99996 A=0.00004
The PAGE Study AfricanAmerican Sub 32488 G=0.99991 A=0.00009
The PAGE Study Mexican Sub 10804 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8308 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7912 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4528 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4228 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2448 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1258 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 854 G=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9998 A=0.0002
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 14 NC_000014.9:g.88841196G>A
GRCh37.p13 chr 14 NC_000014.8:g.89307540G>A
TTC8 RefSeqGene NG_008126.2:g.22044G>A
Gene: TTC8, tetratricopeptide repeat domain 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTC8 transcript variant 5 NM_001288782.1:c.-104= N/A 5 Prime UTR Variant
TTC8 transcript variant 6 NM_001288783.1:c.-199= N/A 5 Prime UTR Variant
TTC8 transcript variant 2 NM_198309.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform B NP_938051.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 3 NM_198310.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform C NP_938052.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 4 NM_001288781.1:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform D NP_001275710.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 8 NM_001366535.2:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform G NP_001353464.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 9 NM_001366536.2:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform H NP_001353465.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 1 NM_144596.4:c.489G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform A NP_653197.2:p.Thr163= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant 7 NR_159362.2:n.516G>A N/A Non Coding Transcript Variant
TTC8 transcript variant X1 XM_011536433.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform X1 XP_011534735.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
TTC8 transcript variant X2 XM_011536434.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
tetratricopeptide repeat protein 8 isoform X2 XP_011534736.1:p.Thr153= T (Thr) > T (Thr) Synonymous 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: A (allele ID: 17569 )
ClinVar Accession Disease Names Clinical Significance
RCV000002639.9 Bardet-Biedl syndrome 8 Uncertain-Significance
RCV000203928.6 Bardet-Biedl syndrome Pathogenic
RCV000415339.1 Intellectual disability, moderate,Postaxial foot polydactyly,Truncal obesity Likely-Pathogenic
RCV001074706.1 Retinal dystrophy Pathogenic
RCV001197566.1 Retinitis pigmentosa 51 Pathogenic
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 G= A
GRCh38.p14 chr 14 NC_000014.9:g.88841196= NC_000014.9:g.88841196G>A
GRCh37.p13 chr 14 NC_000014.8:g.89307540= NC_000014.8:g.89307540G>A
TTC8 RefSeqGene NG_008126.2:g.22044= NG_008126.2:g.22044G>A
TTC8 transcript variant 1 NM_144596.4:c.489= NM_144596.4:c.489G>A
TTC8 transcript variant 1 NM_144596.3:c.489= NM_144596.3:c.489G>A
TTC8 transcript variant 1 NM_144596.2:c.489= NM_144596.2:c.489G>A
TTC8 transcript variant 2 NM_198309.3:c.459= NM_198309.3:c.459G>A
TTC8 transcript variant 2 NM_198309.2:c.459= NM_198309.2:c.459G>A
TTC8 transcript variant 3 NM_198310.3:c.459= NM_198310.3:c.459G>A
TTC8 transcript variant 3 NM_198310.2:c.459= NM_198310.2:c.459G>A
TTC8 transcript variant 7 NR_159362.2:n.516= NR_159362.2:n.516G>A
TTC8 transcript variant 7 NR_159362.1:n.516= NR_159362.1:n.516G>A
TTC8 transcript variant 8 NM_001366535.2:c.459= NM_001366535.2:c.459G>A
TTC8 transcript variant 8 NM_001366535.1:c.459= NM_001366535.1:c.459G>A
TTC8 transcript variant 9 NM_001366536.2:c.459= NM_001366536.2:c.459G>A
TTC8 transcript variant 9 NM_001366536.1:c.459= NM_001366536.1:c.459G>A
TTC8 transcript variant 4 NM_001288781.1:c.459= NM_001288781.1:c.459G>A
TTC8 transcript variant 5 NM_001288782.1:c.-104= NM_001288782.1:c.-104G>A
TTC8 transcript variant 6 NM_001288783.1:c.-199= NM_001288783.1:c.-199G>A
TTC8 transcript variant X1 XM_011536433.3:c.459= XM_011536433.3:c.459G>A
TTC8 transcript variant X1 XM_011536433.2:c.459= XM_011536433.2:c.459G>A
TTC8 transcript variant X3 XM_011536433.1:c.459= XM_011536433.1:c.459G>A
TTC8 transcript variant X2 XM_011536434.3:c.459= XM_011536434.3:c.459G>A
TTC8 transcript variant X2 XM_011536434.2:c.459= XM_011536434.2:c.459G>A
TTC8 transcript variant X4 XM_011536434.1:c.459= XM_011536434.1:c.459G>A
tetratricopeptide repeat protein 8 isoform A NP_653197.2:p.Thr163= NP_653197.2:p.Thr163=
tetratricopeptide repeat protein 8 isoform B NP_938051.1:p.Thr153= NP_938051.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform C NP_938052.1:p.Thr153= NP_938052.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform G NP_001353464.1:p.Thr153= NP_001353464.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform H NP_001353465.1:p.Thr153= NP_001353465.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform D NP_001275710.1:p.Thr153= NP_001275710.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform X1 XP_011534735.1:p.Thr153= XP_011534735.1:p.Thr153=
tetratricopeptide repeat protein 8 isoform X2 XP_011534736.1:p.Thr153= XP_011534736.1:p.Thr153=
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#.

33 SubSNP, 7 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss253285750 Aug 18, 2010 (132)
2 NHLBI-ESP ss342393585 May 09, 2011 (134)
3 EXOME_CHIP ss491488269 May 04, 2012 (137)
4 ILLUMINA ss780703882 Sep 08, 2015 (146)
5 ILLUMINA ss783378275 Sep 08, 2015 (146)
6 EVA_EXAC ss1691589001 Apr 01, 2015 (144)
7 ILLUMINA ss1752146597 Sep 08, 2015 (146)
8 ILLUMINA ss1917891466 Feb 12, 2016 (147)
9 ILLUMINA ss1946383561 Feb 12, 2016 (147)
10 ILLUMINA ss1959574832 Feb 12, 2016 (147)
11 GNOMAD ss2740882226 Nov 08, 2017 (151)
12 GNOMAD ss2749186804 Nov 08, 2017 (151)
13 GNOMAD ss2930655521 Nov 08, 2017 (151)
14 AFFY ss2985028775 Nov 08, 2017 (151)
15 SWEGEN ss3012626795 Nov 08, 2017 (151)
16 ILLUMINA ss3021592373 Nov 08, 2017 (151)
17 ILLUMINA ss3627280097 Oct 12, 2018 (152)
18 ILLUMINA ss3634589037 Oct 12, 2018 (152)
19 ILLUMINA ss3640296364 Oct 12, 2018 (152)
20 ILLUMINA ss3644636718 Oct 12, 2018 (152)
21 ILLUMINA ss3651990030 Oct 12, 2018 (152)
22 ILLUMINA ss3653800223 Oct 12, 2018 (152)
23 EGCUT_WGS ss3679891035 Jul 13, 2019 (153)
24 ILLUMINA ss3725469267 Jul 13, 2019 (153)
25 ILLUMINA ss3744414842 Jul 13, 2019 (153)
26 ILLUMINA ss3744889643 Jul 13, 2019 (153)
27 PAGE_CC ss3771806102 Jul 13, 2019 (153)
28 ILLUMINA ss3772388405 Jul 13, 2019 (153)
29 EVA ss3824872484 Apr 27, 2020 (154)
30 TOPMED ss4979662207 Apr 27, 2021 (155)
31 EVA ss5847729646 Oct 16, 2022 (156)
32 EVA ss5948200285 Oct 16, 2022 (156)
33 EVA ss5979449131 Oct 16, 2022 (156)
34 Genetic variation in the Estonian population NC_000014.8 - 89307540 Oct 12, 2018 (152)
35 ExAC NC_000014.8 - 89307540 Oct 12, 2018 (152)
36 gnomAD - Genomes NC_000014.9 - 88841196 Apr 27, 2021 (155)
37 gnomAD - Exomes NC_000014.8 - 89307540 Jul 13, 2019 (153)
38 The PAGE Study NC_000014.9 - 88841196 Jul 13, 2019 (153)
39 TopMed NC_000014.9 - 88841196 Apr 27, 2021 (155)
40 ALFA NC_000014.9 - 88841196 Apr 27, 2021 (155)
41 ClinVar RCV000002639.9 Oct 16, 2022 (156)
42 ClinVar RCV000203928.6 Oct 16, 2022 (156)
43 ClinVar RCV000415339.1 Oct 12, 2018 (152)
44 ClinVar RCV001074706.1 Apr 27, 2021 (155)
45 ClinVar RCV001197566.1 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
25629283, 1943065, 10139166, ss342393585, ss491488269, ss780703882, ss783378275, ss1691589001, ss1752146597, ss1917891466, ss1946383561, ss1959574832, ss2740882226, ss2749186804, ss2930655521, ss2985028775, ss3012626795, ss3021592373, ss3627280097, ss3634589037, ss3640296364, ss3644636718, ss3651990030, ss3653800223, ss3679891035, ss3744414842, ss3744889643, ss3772388405, ss3824872484, ss5847729646, ss5948200285, ss5979449131 NC_000014.8:89307539:G:A NC_000014.9:88841195:G:A (self)
RCV000002639.9, RCV000203928.6, RCV000415339.1, RCV001074706.1, RCV001197566.1, 458737314, 1027571, 195207866, 12178080599, ss253285750, ss3725469267, ss3771806102, ss4979662207 NC_000014.9:88841195:G:A NC_000014.9:88841195:G:A (self)
Help

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

3 citations for rs119103286
PMID Title Author Year Journal
16308660 BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. Stoetzel C et al. 2006 Journal of human genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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