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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.

rs72552290

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:38148666 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003467 (871/251228, GnomAD_exome)
T=0.014533 (2039/140302, GnomAD)
T=0.004273 (515/120534, ExAC) (+ 8 more)
T=0.00106 (59/55548, ALFA)
T=0.01422 (185/13006, GO-ESP)
T=0.0166 (106/6404, 1000G_30x)
T=0.0166 (83/5008, 1000G)
T=0.002 (1/534, MGP)
T=0.005 (1/216, Qatari)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
STAR : Missense 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 55548 C=0.99894 G=0.00000, T=0.00106
European Sub 43026 C=0.99988 G=0.00000, T=0.00012
African Sub 3506 C=0.9912 G=0.0000, T=0.0088
African Others Sub 126 C=1.000 G=0.000, T=0.000
African American Sub 3380 C=0.9908 G=0.0000, T=0.0092
Asian Sub 182 C=1.000 G=0.000, T=0.000
East Asian Sub 124 C=1.000 G=0.000, T=0.000
Other Asian Sub 58 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 508 C=0.982 G=0.000, T=0.018
Latin American 2 Sub 702 C=1.000 G=0.000, T=0.000
South Asian Sub 114 C=1.000 G=0.000, T=0.000
Other Sub 7510 C=0.9981 G=0.0000, T=0.0019


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
gnomAD - Exomes Global Study-wide 251228 C=0.996533 T=0.003467
gnomAD - Exomes European Sub 135176 C=0.999933 T=0.000067
gnomAD - Exomes Asian Sub 49006 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34592 C=0.99847 T=0.00153
gnomAD - Exomes African Sub 16238 C=0.95092 T=0.04908
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=0.99990 T=0.00010
gnomAD - Exomes Other Sub 6138 C=0.9985 T=0.0015
gnomAD - Genomes Global Study-wide 140302 C=0.985467 T=0.014533
gnomAD - Genomes European Sub 75964 C=0.99987 T=0.00013
gnomAD - Genomes African Sub 42064 C=0.95343 T=0.04657
gnomAD - Genomes American Sub 13666 C=0.99700 T=0.00300
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9865 T=0.0135
ExAC Global Study-wide 120534 C=0.995727 T=0.004273
ExAC Europe Sub 72726 C=0.99992 T=0.00008
ExAC Asian Sub 25118 C=0.99992 T=0.00008
ExAC American Sub 11560 C=0.99879 T=0.00121
ExAC African Sub 10230 C=0.95200 T=0.04800
ExAC Other Sub 900 C=0.998 T=0.002
Allele Frequency Aggregator Total Global 55548 C=0.99894 G=0.00000, T=0.00106
Allele Frequency Aggregator European Sub 43026 C=0.99988 G=0.00000, T=0.00012
Allele Frequency Aggregator Other Sub 7510 C=0.9981 G=0.0000, T=0.0019
Allele Frequency Aggregator African Sub 3506 C=0.9912 G=0.0000, T=0.0088
Allele Frequency Aggregator Latin American 2 Sub 702 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 508 C=0.982 G=0.000, T=0.018
Allele Frequency Aggregator Asian Sub 182 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 114 C=1.000 G=0.000, T=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.98578 T=0.01422
GO Exome Sequencing Project European American Sub 8600 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 C=0.9580 T=0.0420
1000Genomes_30x Global Study-wide 6404 C=0.9834 T=0.0166
1000Genomes_30x African Sub 1786 C=0.9406 T=0.0594
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9834 T=0.0166
1000Genomes African Sub 1322 C=0.9372 T=0.0628
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 T=0.002
Qatari Global Study-wide 216 C=0.995 T=0.005
SGDP_PRJ Global Study-wide 6 C=0.5 T=0.5
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 8 NC_000008.11:g.38148666C>G
GRCh38.p14 chr 8 NC_000008.11:g.38148666C>T
GRCh37.p13 chr 8 NC_000008.10:g.38006184C>G
GRCh37.p13 chr 8 NC_000008.10:g.38006184C>T
STAR RefSeqGene NG_011827.1:g.7417G>C
STAR RefSeqGene NG_011827.1:g.7417G>A
Gene: STAR, steroidogenic acute regulatory protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
STAR transcript NM_000349.3:c.153G>C Q [CAG] > H [CAC] Coding Sequence Variant
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Gln51His Q (Gln) > H (His) Missense Variant
STAR transcript NM_000349.3:c.153G>A Q [CAG] > Q [CAA] Coding Sequence Variant
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Gln51= Q (Gln) > Q (Gln) 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: T (allele ID: 314157 )
ClinVar Accession Disease Names Clinical Significance
RCV000396528.7 Congenital lipoid adrenal hyperplasia due to STAR deficency Benign
RCV000956599.9 not provided Benign-Likely-Benign
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 C= G T
GRCh38.p14 chr 8 NC_000008.11:g.38148666= NC_000008.11:g.38148666C>G NC_000008.11:g.38148666C>T
GRCh37.p13 chr 8 NC_000008.10:g.38006184= NC_000008.10:g.38006184C>G NC_000008.10:g.38006184C>T
STAR RefSeqGene NG_011827.1:g.7417= NG_011827.1:g.7417G>C NG_011827.1:g.7417G>A
STAR transcript NM_000349.3:c.153= NM_000349.3:c.153G>C NM_000349.3:c.153G>A
STAR transcript NM_000349.2:c.153= NM_000349.2:c.153G>C NM_000349.2:c.153G>A
STAR transcript variant 2 NM_001007243.1:c.153= NM_001007243.1:c.153G>C NM_001007243.1:c.153G>A
steroidogenic acute regulatory protein, mitochondrial NP_000340.2:p.Gln51= NP_000340.2:p.Gln51His NP_000340.2:p.Gln51=
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#.

39 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss105441728 Feb 13, 2009 (130)
2 1000GENOMES ss223657973 Jul 14, 2010 (132)
3 NHLBI-ESP ss342257171 May 09, 2011 (134)
4 ILLUMINA ss482124644 May 04, 2012 (137)
5 ILLUMINA ss485614733 May 04, 2012 (137)
6 1000GENOMES ss490963739 May 04, 2012 (137)
7 ILLUMINA ss534510032 Sep 08, 2015 (146)
8 TISHKOFF ss560690287 Apr 25, 2013 (138)
9 ILLUMINA ss779115619 Sep 08, 2015 (146)
10 ILLUMINA ss781657172 Sep 08, 2015 (146)
11 ILLUMINA ss834579880 Sep 08, 2015 (146)
12 1000GENOMES ss1329454304 Aug 21, 2014 (142)
13 DDI ss1431483101 Apr 01, 2015 (144)
14 EVA_EXAC ss1689167368 Apr 01, 2015 (144)
15 EVA_MGP ss1711198736 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1928702398 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2302421605 Dec 20, 2016 (150)
18 ILLUMINA ss2634737591 Nov 08, 2017 (151)
19 GNOMAD ss2737109121 Nov 08, 2017 (151)
20 GNOMAD ss2748034436 Nov 08, 2017 (151)
21 GNOMAD ss2865613496 Nov 08, 2017 (151)
22 AFFY ss2986080718 Nov 08, 2017 (151)
23 ILLUMINA ss3630043024 Oct 12, 2018 (152)
24 ILLUMINA ss3632637164 Oct 12, 2018 (152)
25 KHV_HUMAN_GENOMES ss3811043981 Jul 13, 2019 (153)
26 EVA ss3824363816 Apr 26, 2020 (154)
27 EVA ss3825739832 Apr 26, 2020 (154)
28 SGDP_PRJ ss3869719005 Apr 26, 2020 (154)
29 FSA-LAB ss3984397591 Apr 26, 2021 (155)
30 EVA ss3986420718 Apr 26, 2021 (155)
31 TOPMED ss4782699474 Apr 26, 2021 (155)
32 TOPMED ss4782699475 Apr 26, 2021 (155)
33 1000G_HIGH_COVERAGE ss5276800618 Oct 16, 2022 (156)
34 EVA ss5380518801 Oct 16, 2022 (156)
35 HUGCELL_USP ss5473407291 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5566963885 Oct 16, 2022 (156)
37 SANFORD_IMAGENETICS ss5645189388 Oct 16, 2022 (156)
38 EVA ss5888569085 Oct 16, 2022 (156)
39 EVA ss5974385324 Oct 16, 2022 (156)
40 1000Genomes NC_000008.10 - 38006184 Oct 12, 2018 (152)
41 1000Genomes_30x NC_000008.11 - 38148666 Oct 16, 2022 (156)
42 ExAC NC_000008.10 - 38006184 Oct 12, 2018 (152)
43 gnomAD - Genomes NC_000008.11 - 38148666 Apr 26, 2021 (155)
44 gnomAD - Exomes NC_000008.10 - 38006184 Jul 13, 2019 (153)
45 GO Exome Sequencing Project NC_000008.10 - 38006184 Oct 12, 2018 (152)
46 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 38006184 Apr 26, 2020 (154)
47 Qatari NC_000008.10 - 38006184 Apr 26, 2020 (154)
48 SGDP_PRJ NC_000008.10 - 38006184 Apr 26, 2020 (154)
49 TopMed

Submission ignored due to conflicting rows:
Row 620077034 (NC_000008.11:38148665:C:G 1/264690)
Row 620077035 (NC_000008.11:38148665:C:T 4176/264690)

- Apr 26, 2021 (155)
50 TopMed

Submission ignored due to conflicting rows:
Row 620077034 (NC_000008.11:38148665:C:G 1/264690)
Row 620077035 (NC_000008.11:38148665:C:T 4176/264690)

- Apr 26, 2021 (155)
51 ALFA NC_000008.11 - 38148666 Apr 26, 2021 (155)
52 ClinVar RCV000396528.7 Oct 16, 2022 (156)
53 ClinVar RCV000956599.9 Oct 16, 2022 (156)
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
2536910162, ss4782699474 NC_000008.11:38148665:C:G NC_000008.11:38148665:C:G (self)
ss485614733 NC_000008.9:38125340:C:T NC_000008.11:38148665:C:T (self)
41566776, 9265101, 6279896, 821664, 314496, 10744328, 21735985, ss223657973, ss342257171, ss482124644, ss490963739, ss534510032, ss560690287, ss779115619, ss781657172, ss834579880, ss1329454304, ss1431483101, ss1689167368, ss1711198736, ss1928702398, ss2634737591, ss2737109121, ss2748034436, ss2865613496, ss2986080718, ss3630043024, ss3632637164, ss3824363816, ss3825739832, ss3869719005, ss3984397591, ss3986420718, ss5380518801, ss5645189388, ss5974385324 NC_000008.10:38006183:C:T NC_000008.11:38148665:C:T (self)
RCV000396528.7, RCV000956599.9, 54489820, 293087407, 2536910162, ss2302421605, ss3811043981, ss4782699475, ss5276800618, ss5473407291, ss5566963885, ss5888569085 NC_000008.11:38148665:C:T NC_000008.11:38148665:C:T (self)
ss105441728 NT_167187.1:25864329:C:T NC_000008.11:38148665:C:T (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 rs72552290

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