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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.

rs894

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr18:63504364 (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
A>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.467959 (123864/264690, TOPMED)
C=0.483041 (67648/140046, GnomAD)
A=0.46463 (16696/35934, ALFA) (+ 15 more)
A=0.48825 (8183/16760, 8.3KJPN)
C=0.4245 (2126/5008, 1000G)
A=0.3973 (1780/4480, Estonian)
A=0.4032 (1554/3854, ALSPAC)
A=0.3967 (1471/3708, TWINSUK)
C=0.4928 (1444/2930, KOREAN)
C=0.3977 (750/1886, HapMap)
A=0.4864 (891/1832, Korea1K)
A=0.437 (436/998, GoNL)
A=0.445 (267/600, NorthernSweden)
A=0.357 (117/328, SGDP_PRJ)
C=0.412 (89/216, Qatari)
A=0.407 (88/216, Vietnamese)
A=0.35 (14/40, GENOME_DK)
A=0.32 (12/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SERPINB5 : 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 18 NC_000018.10:g.63504364A>C
GRCh38.p13 chr 18 NC_000018.10:g.63504364A>T
GRCh37.p13 chr 18 NC_000018.9:g.61171597A>C
GRCh37.p13 chr 18 NC_000018.9:g.61171597A>T
Gene: SERPINB5, serpin family B member 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SERPINB5 transcript NM_002639.5:c.*642= N/A 3 Prime UTR Variant
SERPINB5 transcript variant X1 XM_006722483.3:c. N/A Genic Downstream Transcript 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 35934 A=0.46463 C=0.53537
European Sub 26124 A=0.40817 C=0.59183
African Sub 3846 A=0.7462 C=0.2538
African Others Sub 136 A=0.772 C=0.228
African American Sub 3710 A=0.7453 C=0.2547
Asian Sub 176 A=0.369 C=0.631
East Asian Sub 116 A=0.345 C=0.655
Other Asian Sub 60 A=0.42 C=0.58
Latin American 1 Sub 312 A=0.500 C=0.500
Latin American 2 Sub 2852 A=0.5645 C=0.4355
South Asian Sub 126 A=0.643 C=0.357
Other Sub 2498 A=0.5008 C=0.4992


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 A=0.532041 C=0.467959
gnomAD - Genomes Global Study-wide 140046 A=0.516959 C=0.483041
gnomAD - Genomes European Sub 75856 A=0.40772 C=0.59228
gnomAD - Genomes African Sub 41970 A=0.72864 C=0.27136
gnomAD - Genomes American Sub 13622 A=0.50690 C=0.49310
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.4253 C=0.5747
gnomAD - Genomes East Asian Sub 3126 A=0.4747 C=0.5253
gnomAD - Genomes Other Sub 2150 A=0.5056 C=0.4944
Allele Frequency Aggregator Total Global 35934 A=0.46463 C=0.53537
Allele Frequency Aggregator European Sub 26124 A=0.40817 C=0.59183
Allele Frequency Aggregator African Sub 3846 A=0.7462 C=0.2538
Allele Frequency Aggregator Latin American 2 Sub 2852 A=0.5645 C=0.4355
Allele Frequency Aggregator Other Sub 2498 A=0.5008 C=0.4992
Allele Frequency Aggregator Latin American 1 Sub 312 A=0.500 C=0.500
Allele Frequency Aggregator Asian Sub 176 A=0.369 C=0.631
Allele Frequency Aggregator South Asian Sub 126 A=0.643 C=0.357
8.3KJPN JAPANESE Study-wide 16760 A=0.48825 C=0.51175
1000Genomes Global Study-wide 5008 A=0.5755 C=0.4245
1000Genomes African Sub 1322 A=0.7867 C=0.2133
1000Genomes East Asian Sub 1008 A=0.4335 C=0.5665
1000Genomes Europe Sub 1006 A=0.4254 C=0.5746
1000Genomes South Asian Sub 978 A=0.624 C=0.376
1000Genomes American Sub 694 A=0.529 C=0.471
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3973 C=0.6027
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4032 C=0.5968
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3967 C=0.6033
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5072 C=0.4928, T=0.0000
HapMap Global Study-wide 1886 A=0.6023 C=0.3977
HapMap American Sub 768 A=0.514 C=0.486
HapMap African Sub 688 A=0.786 C=0.214
HapMap Asian Sub 254 A=0.508 C=0.492
HapMap Europe Sub 176 A=0.403 C=0.597
Korean Genome Project KOREAN Study-wide 1832 A=0.4864 C=0.5136
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.437 C=0.563
Northern Sweden ACPOP Study-wide 600 A=0.445 C=0.555
SGDP_PRJ Global Study-wide 328 A=0.357 C=0.643
Qatari Global Study-wide 216 A=0.588 C=0.412
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.407 C=0.593
The Danish reference pan genome Danish Study-wide 40 A=0.35 C=0.65
Siberian Global Study-wide 38 A=0.32 C=0.68
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 A= C T
GRCh38.p13 chr 18 NC_000018.10:g.63504364= NC_000018.10:g.63504364A>C NC_000018.10:g.63504364A>T
GRCh37.p13 chr 18 NC_000018.9:g.61171597= NC_000018.9:g.61171597A>C NC_000018.9:g.61171597A>T
SERPINB5 transcript NM_002639.5:c.*642= NM_002639.5:c.*642A>C NM_002639.5:c.*642A>T
SERPINB5 transcript NM_002639.4:c.*642= NM_002639.4:c.*642A>C NM_002639.4:c.*642A>T
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#.

68 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss916 Sep 19, 2000 (36)
2 AFFY ss76614473 Dec 06, 2007 (129)
3 BCMHGSC_JDW ss90824113 Mar 24, 2008 (129)
4 KRIBB_YJKIM ss104807693 Feb 06, 2009 (130)
5 BGI ss106551596 Feb 06, 2009 (130)
6 1000GENOMES ss110696966 Jan 25, 2009 (130)
7 ILLUMINA-UK ss117909077 Feb 14, 2009 (130)
8 ENSEMBL ss137430318 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss168388619 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss171898756 Jul 04, 2010 (132)
11 BUSHMAN ss203390390 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss208058452 Jul 04, 2010 (132)
13 1000GENOMES ss227921329 Jul 14, 2010 (132)
14 1000GENOMES ss237512108 Jul 15, 2010 (132)
15 1000GENOMES ss243751461 Jul 15, 2010 (132)
16 BL ss255733140 May 09, 2011 (134)
17 GMI ss283032909 May 04, 2012 (137)
18 ILLUMINA ss483756642 May 04, 2012 (137)
19 ILLUMINA ss484033154 May 04, 2012 (137)
20 ILLUMINA ss536224778 Sep 08, 2015 (146)
21 TISHKOFF ss565712945 Apr 25, 2013 (138)
22 SSMP ss661550257 Apr 25, 2013 (138)
23 ILLUMINA ss779523628 Sep 08, 2015 (146)
24 ILLUMINA ss782461151 Sep 08, 2015 (146)
25 ILLUMINA ss834994127 Sep 08, 2015 (146)
26 EVA-GONL ss993849399 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1081590402 Aug 21, 2014 (142)
28 1000GENOMES ss1361478933 Aug 21, 2014 (142)
29 DDI ss1428255688 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1578453225 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1637124398 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1680118431 Apr 01, 2015 (144)
33 EVA_DECODE ss1697911907 Apr 01, 2015 (144)
34 EVA_SVP ss1713635098 Apr 01, 2015 (144)
35 WEILL_CORNELL_DGM ss1937316605 Feb 12, 2016 (147)
36 JJLAB ss2029429676 Sep 14, 2016 (149)
37 USC_VALOUEV ss2157937602 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2222513372 Dec 20, 2016 (150)
39 TOPMED ss2387920503 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2629213070 Nov 08, 2017 (151)
41 ILLUMINA ss2633487732 Nov 08, 2017 (151)
42 GRF ss2702531050 Nov 08, 2017 (151)
43 GNOMAD ss2957962347 Nov 08, 2017 (151)
44 SWEGEN ss3016711336 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3028544595 Nov 08, 2017 (151)
46 TOPMED ss3282227362 Nov 08, 2017 (151)
47 CSHL ss3352077153 Nov 08, 2017 (151)
48 ILLUMINA ss3627835633 Oct 12, 2018 (152)
49 ILLUMINA ss3631463663 Oct 12, 2018 (152)
50 EGCUT_WGS ss3683561805 Jul 13, 2019 (153)
51 EVA_DECODE ss3701884995 Jul 13, 2019 (153)
52 ACPOP ss3742645114 Jul 13, 2019 (153)
53 EVA ss3755533595 Jul 13, 2019 (153)
54 PACBIO ss3788403118 Jul 13, 2019 (153)
55 PACBIO ss3793329863 Jul 13, 2019 (153)
56 PACBIO ss3798216306 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3820787320 Jul 13, 2019 (153)
58 EVA ss3825917311 Apr 27, 2020 (154)
59 EVA ss3835228239 Apr 27, 2020 (154)
60 EVA ss3841232773 Apr 27, 2020 (154)
61 EVA ss3846735532 Apr 27, 2020 (154)
62 SGDP_PRJ ss3887254547 Apr 27, 2020 (154)
63 KRGDB ss3937152043 Apr 27, 2020 (154)
64 KOGIC ss3980367377 Apr 27, 2020 (154)
65 FSA-LAB ss3984134393 Apr 26, 2021 (155)
66 EVA ss3986078013 Apr 26, 2021 (155)
67 TOPMED ss5060692913 Apr 26, 2021 (155)
68 TOMMO_GENOMICS ss5225680203 Apr 26, 2021 (155)
69 1000Genomes NC_000018.9 - 61171597 Oct 12, 2018 (152)
70 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 61171597 Oct 12, 2018 (152)
71 Genetic variation in the Estonian population NC_000018.9 - 61171597 Oct 12, 2018 (152)
72 The Danish reference pan genome NC_000018.9 - 61171597 Apr 27, 2020 (154)
73 gnomAD - Genomes NC_000018.10 - 63504364 Apr 26, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000018.9 - 61171597 Apr 27, 2020 (154)
75 HapMap NC_000018.10 - 63504364 Apr 27, 2020 (154)
76 KOREAN population from KRGDB NC_000018.9 - 61171597 Apr 27, 2020 (154)
77 Korean Genome Project NC_000018.10 - 63504364 Apr 27, 2020 (154)
78 Northern Sweden NC_000018.9 - 61171597 Jul 13, 2019 (153)
79 Qatari NC_000018.9 - 61171597 Apr 27, 2020 (154)
80 SGDP_PRJ NC_000018.9 - 61171597 Apr 27, 2020 (154)
81 Siberian NC_000018.9 - 61171597 Apr 27, 2020 (154)
82 8.3KJPN NC_000018.9 - 61171597 Apr 26, 2021 (155)
83 TopMed NC_000018.10 - 63504364 Apr 26, 2021 (155)
84 UK 10K study - Twins NC_000018.9 - 61171597 Oct 12, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000018.9 - 61171597 Jul 13, 2019 (153)
86 ALFA NC_000018.10 - 63504364 Apr 26, 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
ss76614473, ss90824113, ss110696966, ss117909077, ss168388619, ss171898756, ss203390390, ss208058452, ss255733140, ss283032909, ss483756642, ss1697911907, ss1713635098 NC_000018.8:59322576:A:C NC_000018.10:63504363:A:C (self)
74824212, 41472362, 29300053, 4643212, 18474475, 44329437, 15929979, 19358527, 39271527, 10453956, 83649510, 41472362, 9163333, ss227921329, ss237512108, ss243751461, ss484033154, ss536224778, ss565712945, ss661550257, ss779523628, ss782461151, ss834994127, ss993849399, ss1081590402, ss1361478933, ss1428255688, ss1578453225, ss1637124398, ss1680118431, ss1937316605, ss2029429676, ss2157937602, ss2387920503, ss2629213070, ss2633487732, ss2702531050, ss2957962347, ss3016711336, ss3352077153, ss3627835633, ss3631463663, ss3683561805, ss3742645114, ss3755533595, ss3788403118, ss3793329863, ss3798216306, ss3825917311, ss3835228239, ss3841232773, ss3887254547, ss3937152043, ss3984134393, ss3986078013, ss5225680203 NC_000018.9:61171596:A:C NC_000018.10:63504363:A:C (self)
527804006, 1626394, 36745378, 172340264, 276238576, 1780098940, ss2222513372, ss3028544595, ss3282227362, ss3701884995, ss3820787320, ss3846735532, ss3980367377, ss5060692913 NC_000018.10:63504363:A:C NC_000018.10:63504363:A:C (self)
ss916, ss104807693, ss106551596, ss137430318 NT_025028.14:8962460:A:C NC_000018.10:63504363:A:C (self)
44329437, ss3937152043 NC_000018.9:61171596:A:T NC_000018.10:63504363:A: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 rs894

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