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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.

rs7373

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:54849938 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.426216 (112815/264690, TOPMED)
G=0.399990 (56013/140036, GnomAD)
G=0.34259 (6875/20068, ALFA) (+ 16 more)
C=0.48389 (8110/16760, 8.3KJPN)
G=0.4359 (2183/5008, 1000G)
G=0.2400 (1075/4480, Estonian)
G=0.3095 (1193/3854, ALSPAC)
G=0.2977 (1104/3708, TWINSUK)
C=0.4348 (1274/2930, KOREAN)
C=0.4219 (773/1832, Korea1K)
G=0.339 (338/998, GoNL)
G=0.267 (160/600, NorthernSweden)
G=0.320 (171/534, MGP)
G=0.491 (161/328, HapMap)
C=0.326 (105/322, SGDP_PRJ)
G=0.398 (86/216, Qatari)
C=0.403 (87/216, Vietnamese)
G=0.33 (13/40, GENOME_DK)
C=0.42 (10/24, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DHCR24 : 3 Prime UTR 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 1 NC_000001.11:g.54849938C>G
GRCh38.p13 chr 1 NC_000001.11:g.54849938C>T
GRCh37.p13 chr 1 NC_000001.10:g.55315611C>G
GRCh37.p13 chr 1 NC_000001.10:g.55315611C>T
DHCR24 RefSeqGene (LRG_1272) NG_008839.1:g.42311G>C
DHCR24 RefSeqGene (LRG_1272) NG_008839.1:g.42311G>A
Gene: DHCR24, 24-dehydrocholesterol reductase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DHCR24 transcript NM_014762.4:c.*2295= N/A 3 Prime UTR 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: G (allele ID: 282592 )
ClinVar Accession Disease Names Clinical Significance
RCV000288846.2 Desmosterolosis Benign

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 20068 C=0.65741 G=0.34259
European Sub 15436 C=0.71579 G=0.28421
African Sub 2946 C=0.4070 G=0.5930
African Others Sub 114 C=0.351 G=0.649
African American Sub 2832 C=0.4093 G=0.5907
Asian Sub 112 C=0.411 G=0.589
East Asian Sub 86 C=0.43 G=0.57
Other Asian Sub 26 C=0.35 G=0.65
Latin American 1 Sub 146 C=0.562 G=0.438
Latin American 2 Sub 610 C=0.503 G=0.497
South Asian Sub 98 C=0.79 G=0.21
Other Sub 720 C=0.601 G=0.399


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 C=0.573784 G=0.426216
gnomAD - Genomes Global Study-wide 140036 C=0.600010 G=0.399990
gnomAD - Genomes European Sub 75872 C=0.70523 G=0.29477
gnomAD - Genomes African Sub 41920 C=0.41734 G=0.58266
gnomAD - Genomes American Sub 13644 C=0.60202 G=0.39798
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.6948 G=0.3052
gnomAD - Genomes East Asian Sub 3124 C=0.3915 G=0.6085
gnomAD - Genomes Other Sub 2154 C=0.5924 G=0.4076
Allele Frequency Aggregator Total Global 20068 C=0.65741 G=0.34259
Allele Frequency Aggregator European Sub 15436 C=0.71579 G=0.28421
Allele Frequency Aggregator African Sub 2946 C=0.4070 G=0.5930
Allele Frequency Aggregator Other Sub 720 C=0.601 G=0.399
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.503 G=0.497
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.562 G=0.438
Allele Frequency Aggregator Asian Sub 112 C=0.411 G=0.589
Allele Frequency Aggregator South Asian Sub 98 C=0.79 G=0.21
8.3KJPN JAPANESE Study-wide 16760 C=0.48389 G=0.51611
1000Genomes Global Study-wide 5008 C=0.5641 G=0.4359
1000Genomes African Sub 1322 C=0.3979 G=0.6021
1000Genomes East Asian Sub 1008 C=0.4167 G=0.5833
1000Genomes Europe Sub 1006 C=0.6769 G=0.3231
1000Genomes South Asian Sub 978 C=0.823 G=0.177
1000Genomes American Sub 694 C=0.566 G=0.434
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7600 G=0.2400
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6905 G=0.3095
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7023 G=0.2977
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4348 G=0.5652, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.4219 G=0.5781
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.661 G=0.339
Northern Sweden ACPOP Study-wide 600 C=0.733 G=0.267
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.680 G=0.320
HapMap Global Study-wide 328 C=0.509 G=0.491
HapMap African Sub 120 C=0.358 G=0.642
HapMap American Sub 120 C=0.692 G=0.308
HapMap Asian Sub 88 C=0.47 G=0.53
SGDP_PRJ Global Study-wide 322 C=0.326 G=0.674
Qatari Global Study-wide 216 C=0.602 G=0.398
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.403 G=0.597
The Danish reference pan genome Danish Study-wide 40 C=0.68 G=0.33
Siberian Global Study-wide 24 C=0.42 G=0.58
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.p13 chr 1 NC_000001.11:g.54849938= NC_000001.11:g.54849938C>G NC_000001.11:g.54849938C>T
GRCh37.p13 chr 1 NC_000001.10:g.55315611= NC_000001.10:g.55315611C>G NC_000001.10:g.55315611C>T
DHCR24 RefSeqGene (LRG_1272) NG_008839.1:g.42311= NG_008839.1:g.42311G>C NG_008839.1:g.42311G>A
DHCR24 transcript NM_014762.4:c.*2295= NM_014762.4:c.*2295G>C NM_014762.4:c.*2295G>A
DHCR24 transcript NM_014762.3:c.*2295= NM_014762.3:c.*2295G>C NM_014762.3:c.*2295G>A
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#.

76 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss9211 Sep 19, 2000 (52)
2 SC_JCM ss829797 Aug 11, 2000 (85)
3 TSC-CSHL ss1465941 Oct 04, 2000 (86)
4 LEE ss1545849 Oct 04, 2000 (86)
5 YUSUKE ss3215297 Sep 28, 2001 (100)
6 LEE ss4431358 May 29, 2002 (106)
7 SC_SNP ss13036697 Dec 05, 2003 (119)
8 CGAP-GAI ss16259957 Feb 27, 2004 (120)
9 ABI ss43854254 Mar 15, 2006 (126)
10 ILLUMINA ss65735550 Oct 15, 2006 (127)
11 HGSV ss81026022 Dec 15, 2007 (130)
12 BCMHGSC_JDW ss87435945 Mar 23, 2008 (129)
13 BGI ss102742277 Dec 01, 2009 (131)
14 1000GENOMES ss108202841 Jan 23, 2009 (130)
15 1000GENOMES ss110455378 Jan 24, 2009 (130)
16 ILLUMINA-UK ss118696685 Feb 14, 2009 (130)
17 ENSEMBL ss137938983 Dec 01, 2009 (131)
18 GMI ss155003729 Dec 01, 2009 (131)
19 ILLUMINA ss160876609 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss163392898 Jul 04, 2010 (132)
21 ILLUMINA ss168876119 Jul 04, 2010 (132)
22 BUSHMAN ss198455883 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss205253903 Jul 04, 2010 (132)
24 1000GENOMES ss218384319 Jul 14, 2010 (132)
25 1000GENOMES ss230533973 Jul 14, 2010 (132)
26 1000GENOMES ss238228494 Jul 15, 2010 (132)
27 GMI ss275826162 May 04, 2012 (137)
28 GMI ss284049820 Apr 25, 2013 (138)
29 ILLUMINA ss482558836 Sep 08, 2015 (146)
30 ILLUMINA ss533074606 Sep 08, 2015 (146)
31 TISHKOFF ss554110918 Apr 25, 2013 (138)
32 SSMP ss647941287 Apr 25, 2013 (138)
33 EVA-GONL ss975159222 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067885233 Aug 21, 2014 (142)
35 1000GENOMES ss1290889225 Aug 21, 2014 (142)
36 DDI ss1425807762 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1574058032 Apr 01, 2015 (144)
38 EVA_DECODE ss1584525498 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1600171474 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1643165507 Apr 01, 2015 (144)
41 EVA_MGP ss1710906200 Apr 01, 2015 (144)
42 HAMMER_LAB ss1794361718 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1918367971 Feb 12, 2016 (147)
44 GENOMED ss1966744784 Jul 19, 2016 (147)
45 JJLAB ss2019699518 Sep 14, 2016 (149)
46 USC_VALOUEV ss2147713723 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2162498424 Dec 20, 2016 (150)
48 TOPMED ss2324738714 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2624362590 Nov 08, 2017 (151)
50 GRF ss2697625943 Nov 08, 2017 (151)
51 GNOMAD ss2755144521 Nov 08, 2017 (151)
52 SWEGEN ss2986816141 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3023609739 Nov 08, 2017 (151)
54 TOPMED ss3076637580 Nov 08, 2017 (151)
55 CSHL ss3343453025 Nov 08, 2017 (151)
56 ILLUMINA ss3626097549 Oct 11, 2018 (152)
57 ILLUMINA ss3635999952 Oct 11, 2018 (152)
58 ILLUMINA ss3637756694 Oct 11, 2018 (152)
59 OMUKHERJEE_ADBS ss3646231018 Oct 11, 2018 (152)
60 EGCUT_WGS ss3654879816 Jul 12, 2019 (153)
61 EVA_DECODE ss3686770326 Jul 12, 2019 (153)
62 ACPOP ss3727046094 Jul 12, 2019 (153)
63 EVA ss3746202525 Jul 12, 2019 (153)
64 KHV_HUMAN_GENOMES ss3799211695 Jul 12, 2019 (153)
65 EVA ss3825565582 Apr 25, 2020 (154)
66 EVA ss3826170943 Apr 25, 2020 (154)
67 EVA ss3836472071 Apr 25, 2020 (154)
68 EVA ss3841878135 Apr 25, 2020 (154)
69 SGDP_PRJ ss3848844648 Apr 25, 2020 (154)
70 KRGDB ss3893855270 Apr 25, 2020 (154)
71 KOGIC ss3944511023 Apr 25, 2020 (154)
72 FSA-LAB ss3983932327 Apr 25, 2021 (155)
73 FSA-LAB ss3983932328 Apr 25, 2021 (155)
74 EVA ss3986010797 Apr 25, 2021 (155)
75 TOPMED ss4449718030 Apr 25, 2021 (155)
76 TOMMO_GENOMICS ss5143948414 Apr 25, 2021 (155)
77 1000Genomes NC_000001.10 - 55315611 Oct 11, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 55315611 Oct 11, 2018 (152)
79 Genetic variation in the Estonian population NC_000001.10 - 55315611 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000001.10 - 55315611 Apr 25, 2020 (154)
81 gnomAD - Genomes NC_000001.11 - 54849938 Apr 25, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000001.10 - 55315611 Apr 25, 2020 (154)
83 HapMap NC_000001.11 - 54849938 Apr 25, 2020 (154)
84 KOREAN population from KRGDB NC_000001.10 - 55315611 Apr 25, 2020 (154)
85 Korean Genome Project NC_000001.11 - 54849938 Apr 25, 2020 (154)
86 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 55315611 Apr 25, 2020 (154)
87 Northern Sweden NC_000001.10 - 55315611 Jul 12, 2019 (153)
88 Qatari NC_000001.10 - 55315611 Apr 25, 2020 (154)
89 SGDP_PRJ NC_000001.10 - 55315611 Apr 25, 2020 (154)
90 Siberian NC_000001.10 - 55315611 Apr 25, 2020 (154)
91 8.3KJPN NC_000001.10 - 55315611 Apr 25, 2021 (155)
92 TopMed NC_000001.11 - 54849938 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 55315611 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 55315611 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 54849938 Apr 25, 2021 (155)
96 ClinVar RCV000288846.2 Apr 25, 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)
rs656720 Sep 19, 2000 (85)
rs3202206 Jul 03, 2002 (106)
rs59440526 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81026022 NC_000001.8:55027631:C:G NC_000001.11:54849937:C:G (self)
ss87435945, ss108202841, ss110455378, ss118696685, ss160876609, ss163392898, ss198455883, ss205253903, ss275826162, ss284049820, ss1584525498 NC_000001.9:55088198:C:G NC_000001.11:54849937:C:G (self)
1607541, 874360, 618064, 1501002, 370665, 1032664, 22952, 330959, 409901, 861628, 230077, 1917721, 874360, 179254, ss218384319, ss230533973, ss238228494, ss482558836, ss533074606, ss554110918, ss647941287, ss975159222, ss1067885233, ss1290889225, ss1425807762, ss1574058032, ss1600171474, ss1643165507, ss1710906200, ss1794361718, ss1918367971, ss1966744784, ss2019699518, ss2147713723, ss2324738714, ss2624362590, ss2697625943, ss2755144521, ss2986816141, ss3343453025, ss3626097549, ss3635999952, ss3637756694, ss3646231018, ss3654879816, ss3727046094, ss3746202525, ss3825565582, ss3826170943, ss3836472071, ss3848844648, ss3893855270, ss3983932327, ss3983932328, ss3986010797, ss5143948414 NC_000001.10:55315610:C:G NC_000001.11:54849937:C:G (self)
RCV000288846.2, 11381444, 67897, 889024, 8385896, 13324365, 517285417, ss2162498424, ss3023609739, ss3076637580, ss3686770326, ss3799211695, ss3841878135, ss3944511023, ss4449718030 NC_000001.11:54849937:C:G NC_000001.11:54849937:C:G (self)
ss13036697 NT_032977.5:7764522:C:G NC_000001.11:54849937:C:G (self)
ss9211, ss829797, ss1465941, ss1545849, ss3215297, ss4431358, ss16259957, ss43854254, ss65735550, ss102742277, ss137938983, ss155003729, ss168876119 NT_032977.9:25287528:C:G NC_000001.11:54849937:C:G (self)
1032664, ss3893855270 NC_000001.10:55315610:C:T NC_000001.11:54849937: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 rs7373

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