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dbSNP Short Genetic Variations

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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr8:38146068 (GRCh38.p12) 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.

C>A / C>T
Variation Type
SNV Single Nucleotide Variation
T=0.000 (1/3854, ALSPAC)
T=0.000 (0/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
STAR : Missense Variant
4 citations
Genomic View
See rs on genome

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.p12 chr 8 NC_000008.11:g.38146068C>A
GRCh38.p12 chr 8 NC_000008.11:g.38146068C>T
GRCh37.p13 chr 8 NC_000008.10:g.38003586C>A
GRCh37.p13 chr 8 NC_000008.10:g.38003586C>T
STAR RefSeqGene NG_011827.1:g.10015G>T
STAR RefSeqGene NG_011827.1:g.10015G>A
Gene: STAR, steroidogenic acute regulatory protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
STAR transcript NM_000349.2:c.545G>T R [CGT] > L [CTT] Coding Sequence Variant
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Arg182Leu R (Arg) > L (Leu) Missense Variant
STAR transcript NM_000349.2:c.545G>A R [CGT] > H [CAT] Coding Sequence Variant
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Arg182His R (Arg) > H (His) Missense Variant

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: 24027 )
ClinVar Accession Disease Names Clinical Significance
RCV000009551.2 Cholesterol monooxygenase (side-chain cleaving) deficiency Pathogenic
Allele: T (allele ID: 24034 )
ClinVar Accession Disease Names Clinical Significance
RCV000009558.2 Cholesterol monooxygenase (side-chain cleaving) deficiency Likely-Pathogenic
RCV000518086.1 not provided Pathogenic

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").

Study Population Group Sample Size Ref Allele Alt Allele
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=1.000 T=0.000
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.000 T=0.000

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 C= A T Note
GRCh38.p12 chr 8 NC_000008.11:g.38...






GRCh37.p13 chr 8 NC_000008.10:g.38...






STAR RefSeqGene NG_011827.1:g.100...






STAR transcript NM_000349.2:c.545G= NM_000349.2:c.545G>T NM_000349.2:c.545G>A
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Arg...







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#.

6 SubSNP, 2 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMICIA ss244238732 Aug 29, 2012 (137)
2 OMICIA ss244238734 Aug 29, 2012 (137)
3 OMIM-CURATED-RECORDS ss290085695 Jan 11, 2011 (133)
4 OMIM-CURATED-RECORDS ss290085703 Jan 11, 2011 (133)
5 EVA_UK10K_ALSPAC ss1620424711 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1663418744 Apr 01, 2015 (144)
7 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 38003586 Oct 12, 2018 (152)
8 UK 10K study - Twins NC_000008.10 - 38003586 Oct 12, 2018 (152)
9 ClinVar RCV000009551.2 Oct 12, 2018 (152)
10 ClinVar RCV000009558.2 Oct 12, 2018 (152)
11 ClinVar RCV000518086.1 Oct 12, 2018 (152)

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)
rs104894088 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
23115207, 23115207, ss1620424711, ss1663418744 NC_000008.10:38003585:C= NC_000008.11:38146067:C= (self)
ss244238732, ss244238734, ss290085695, ss290085703 NC_000008.11:38146067:C= NC_000008.11:38146067:C= (self)
RCV000009551.2, ss244238732, ss290085695 NC_000008.11:38146067:C>A NC_000008.11:38146067:C>A (self)
23115207, 23115207, ss1620424711, ss1663418744 NC_000008.10:38003585:C>T NC_000008.11:38146067:C>T (self)
RCV000009558.2, RCV000518086.1, ss244238734, ss290085703 NC_000008.11:38146067:C>T NC_000008.11:38146067:C>T (self)

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

4 citations for rs104894086
PMID Title Author Year Journal
8948562 The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. Bose HS et al. 1996 The New England journal of medicine
11061515 Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. Bose HS et al. 2000 The Journal of clinical endocrinology and metabolism
11509019 Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. Achermann JC et al. 2001 Molecular genetics and metabolism
15546900 A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. Chen X et al. 2005 The Journal of clinical endocrinology and metabolism

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.post58+e54ea20