Name: rs5823804
Published: September 21, 2022
License: Open Access

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.

rs5823804

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:31394681-31394695 (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: del(A)₆ / del(A)₄ / delAAA / delAA…
del(A)₆ / del(A)₄ / delAAA / delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₅=0.0347 (174/5008, 1000G)
del(A)₆=0.000 (0/104, ALFA)
del(A)₄=0.000 (0/104, ALFA) (+ 4 more)
delAAA=0.000 (0/104, ALFA)
delAA=0.000 (0/104, ALFA)
delA=0.000 (0/104, ALFA)
dupA=0.000 (0/104, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DSG1-AS1 : Intron Variant
DSG4 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	104	AAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	94	AAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	2	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	4	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₁₅=0.0347	delAA=0.9653
1000Genomes	African	Sub	1322	(A)₁₅=0.0030	delAA=0.9970
1000Genomes	East Asian	Sub	1008	(A)₁₅=0.0040	delAA=0.9960
1000Genomes	Europe	Sub	1006	(A)₁₅=0.0924	delAA=0.9076
1000Genomes	South Asian	Sub	978	(A)₁₅=0.045	delAA=0.955
1000Genomes	American	Sub	694	(A)₁₅=0.042	delAA=0.958
Allele Frequency Aggregator	Total	Global	104	(A)₁₅=1.000	del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	European	Sub	94	(A)₁₅=1.00	del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Other	Sub	4	(A)₁₅=1.0	del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₁₅=1.0	del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	2	(A)₁₅=1.0	del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₁₅=1.0	del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	African	Sub	0	(A)₁₅=0	del(A)₆=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₅=0	del(A)₆=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0

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 18	NC_000018.10:g.31394690_31394695del
GRCh38.p14 chr 18	NC_000018.10:g.31394692_31394695del
GRCh38.p14 chr 18	NC_000018.10:g.31394693_31394695del
GRCh38.p14 chr 18	NC_000018.10:g.31394694_31394695del
GRCh38.p14 chr 18	NC_000018.10:g.31394695del
GRCh38.p14 chr 18	NC_000018.10:g.31394695dup
GRCh37.p13 chr 18	NC_000018.9:g.28974653_28974658del
GRCh37.p13 chr 18	NC_000018.9:g.28974655_28974658del
GRCh37.p13 chr 18	NC_000018.9:g.28974656_28974658del
GRCh37.p13 chr 18	NC_000018.9:g.28974657_28974658del
GRCh37.p13 chr 18	NC_000018.9:g.28974658del
GRCh37.p13 chr 18	NC_000018.9:g.28974658dup
DSG4 RefSeqGene	NG_013040.1:g.22914_22919del
DSG4 RefSeqGene	NG_013040.1:g.22916_22919del
DSG4 RefSeqGene	NG_013040.1:g.22917_22919del
DSG4 RefSeqGene	NG_013040.1:g.22918_22919del
DSG4 RefSeqGene	NG_013040.1:g.22919del
DSG4 RefSeqGene	NG_013040.1:g.22919dup

Gene: DSG4, desmoglein 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG4 transcript variant 1	NM_001134453.3:c.1005+235… NM_001134453.3:c.1005+2350_1005+2355del	N/A	Intron Variant
DSG4 transcript variant 2	NM_177986.5:c.1005+2350_1… NM_177986.5:c.1005+2350_1005+2355del	N/A	Intron Variant

Gene: DSG1-AS1, DSG1 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG1-AS1 transcript variant 1	NR_110788.1:n.	N/A	Intron Variant
DSG1-AS1 transcript variant 2	NR_110789.1:n.	N/A	Genic Upstream Transcript 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.

Not Reported in ClinVar

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)₁₅=	del(A)₆	del(A)₄	delAAA	delAA	delA	dupA
GRCh38.p14 chr 18	NC_000018.10:g.31394681_31394695=	NC_000018.10:g.31394690_31394695del	NC_000018.10:g.31394692_31394695del	NC_000018.10:g.31394693_31394695del	NC_000018.10:g.31394694_31394695del	NC_000018.10:g.31394695del	NC_000018.10:g.31394695dup
GRCh37.p13 chr 18	NC_000018.9:g.28974644_28974658=	NC_000018.9:g.28974653_28974658del	NC_000018.9:g.28974655_28974658del	NC_000018.9:g.28974656_28974658del	NC_000018.9:g.28974657_28974658del	NC_000018.9:g.28974658del	NC_000018.9:g.28974658dup
DSG4 RefSeqGene	NG_013040.1:g.22905_22919=	NG_013040.1:g.22914_22919del	NG_013040.1:g.22916_22919del	NG_013040.1:g.22917_22919del	NG_013040.1:g.22918_22919del	NG_013040.1:g.22919del	NG_013040.1:g.22919dup
DSG4 transcript variant 1	NM_001134453.1:c.1005+2341=	NM_001134453.1:c.1005+2350_1005+2355del	NM_001134453.1:c.1005+2352_1005+2355del	NM_001134453.1:c.1005+2353_1005+2355del	NM_001134453.1:c.1005+2354_1005+2355del	NM_001134453.1:c.1005+2355del	NM_001134453.1:c.1005+2355dup
DSG4 transcript variant 1	NM_001134453.3:c.1005+2341=	NM_001134453.3:c.1005+2350_1005+2355del	NM_001134453.3:c.1005+2352_1005+2355del	NM_001134453.3:c.1005+2353_1005+2355del	NM_001134453.3:c.1005+2354_1005+2355del	NM_001134453.3:c.1005+2355del	NM_001134453.3:c.1005+2355dup
DSG4 transcript variant 2	NM_177986.3:c.1005+2341=	NM_177986.3:c.1005+2350_1005+2355del	NM_177986.3:c.1005+2352_1005+2355del	NM_177986.3:c.1005+2353_1005+2355del	NM_177986.3:c.1005+2354_1005+2355del	NM_177986.3:c.1005+2355del	NM_177986.3:c.1005+2355dup
DSG4 transcript variant 2	NM_177986.5:c.1005+2341=	NM_177986.5:c.1005+2350_1005+2355del	NM_177986.5:c.1005+2352_1005+2355del	NM_177986.5:c.1005+2353_1005+2355del	NM_177986.5:c.1005+2354_1005+2355del	NM_177986.5:c.1005+2355del	NM_177986.5:c.1005+2355dup

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#.

61 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40898214	Mar 15, 2016 (147)
2	ABI	ss40951550	Mar 15, 2016 (147)
3	HGSV	ss77841843	Sep 08, 2015 (146)
4	HGSV	ss77843949	Sep 08, 2015 (146)
5	HUMANGENOME_JCVI	ss95708466	Mar 15, 2016 (147)
6	BL	ss256196145	May 09, 2011 (138)
7	GMI	ss288505662	Mar 15, 2016 (147)
8	GMI	ss289353585	May 04, 2012 (138)
9	PJP	ss294935173	Aug 21, 2014 (142)
10	PJP	ss294935174	May 09, 2011 (138)
11	BILGI_BIOE	ss666708679	Apr 25, 2013 (138)
12	SSIP	ss947379903	Aug 21, 2014 (142)
13	1000GENOMES	ss1377319148	Aug 21, 2014 (142)
14	DDI	ss1536865729	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1708946586	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1708946633	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1710756349	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1710756361	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1809002117	Sep 08, 2015 (146)
20	JJLAB	ss2031365324	Sep 14, 2016 (149)
21	SWEGEN	ss3016347635	Nov 08, 2017 (151)
22	MCHAISSO	ss3063888652	Nov 08, 2017 (151)
23	MCHAISSO	ss3064733317	Nov 08, 2017 (151)
24	MCHAISSO	ss3065677288	Nov 08, 2017 (151)
25	BEROUKHIMLAB	ss3644422712	Oct 12, 2018 (152)
26	BIOINF_KMB_FNS_UNIBA	ss3645480844	Oct 12, 2018 (152)
27	URBANLAB	ss3650768937	Oct 12, 2018 (152)
28	EVA_DECODE	ss3701440364	Jul 13, 2019 (153)
29	EVA_DECODE	ss3701440365	Jul 13, 2019 (153)
30	EVA_DECODE	ss3701440366	Jul 13, 2019 (153)
31	ACPOP	ss3742446629	Jul 13, 2019 (153)
32	ACPOP	ss3742446630	Jul 13, 2019 (153)
33	PACBIO	ss3788342780	Jul 13, 2019 (153)
34	PACBIO	ss3793278429	Jul 13, 2019 (153)
35	PACBIO	ss3798164733	Jul 13, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3820517729	Jul 13, 2019 (153)
37	EVA	ss3835114705	Apr 27, 2020 (154)
38	EVA	ss3841174202	Apr 27, 2020 (154)
39	EVA	ss3846675793	Apr 27, 2020 (154)
40	KOGIC	ss3979937956	Apr 27, 2020 (154)
41	KOGIC	ss3979937957	Apr 27, 2020 (154)
42	KOGIC	ss3979937958	Apr 27, 2020 (154)
43	GNOMAD	ss4320023260	Apr 27, 2021 (155)
44	GNOMAD	ss4320023261	Apr 27, 2021 (155)
45	GNOMAD	ss4320023262	Apr 27, 2021 (155)
46	GNOMAD	ss4320023263	Apr 27, 2021 (155)
47	GNOMAD	ss4320023264	Apr 27, 2021 (155)
48	TOMMO_GENOMICS	ss5224666066	Apr 27, 2021 (155)
49	TOMMO_GENOMICS	ss5224666067	Apr 27, 2021 (155)
50	TOMMO_GENOMICS	ss5224666068	Apr 27, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5304900411	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5304900412	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5304900413	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5497710018	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5782312541	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5782312542	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5782312543	Oct 16, 2022 (156)
58	EVA	ss5827390163	Oct 16, 2022 (156)
59	EVA	ss5827390164	Oct 16, 2022 (156)
60	EVA	ss5852007649	Oct 16, 2022 (156)
61	EVA	ss5873620923	Oct 16, 2022 (156)
62	1000Genomes	NC_000018.9 - 28974644	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40926067 (NC_000018.9:28974644:A: 3455/3854) Row 40926068 (NC_000018.9:28974643:AAA: 206/3854)	-	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40926067 (NC_000018.9:28974644:A: 3455/3854) Row 40926068 (NC_000018.9:28974643:AAA: 206/3854)	-	Oct 12, 2018 (152)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521195863 (NC_000018.10:31394680::A 33/134458) Row 521195864 (NC_000018.10:31394680:A: 801/134294) Row 521195865 (NC_000018.10:31394680:AA: 123577/134422)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521195863 (NC_000018.10:31394680::A 33/134458) Row 521195864 (NC_000018.10:31394680:A: 801/134294) Row 521195865 (NC_000018.10:31394680:AA: 123577/134422)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521195863 (NC_000018.10:31394680::A 33/134458) Row 521195864 (NC_000018.10:31394680:A: 801/134294) Row 521195865 (NC_000018.10:31394680:AA: 123577/134422)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521195863 (NC_000018.10:31394680::A 33/134458) Row 521195864 (NC_000018.10:31394680:A: 801/134294) Row 521195865 (NC_000018.10:31394680:AA: 123577/134422)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521195863 (NC_000018.10:31394680::A 33/134458) Row 521195864 (NC_000018.10:31394680:A: 801/134294) Row 521195865 (NC_000018.10:31394680:AA: 123577/134422)...	-	Apr 27, 2021 (155)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 36315957 (NC_000018.10:31394680:AAA: 73/1830) Row 36315958 (NC_000018.10:31394681:AA: 1629/1830) Row 36315959 (NC_000018.10:31394682:A: 128/1830)	-	Apr 27, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 36315957 (NC_000018.10:31394680:AAA: 73/1830) Row 36315958 (NC_000018.10:31394681:AA: 1629/1830) Row 36315959 (NC_000018.10:31394682:A: 128/1830)	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 36315957 (NC_000018.10:31394680:AAA: 73/1830) Row 36315958 (NC_000018.10:31394681:AA: 1629/1830) Row 36315959 (NC_000018.10:31394682:A: 128/1830)	-	Apr 27, 2020 (154)
73	Northern Sweden Submission ignored due to conflicting rows: Row 15731494 (NC_000018.9:28974643:AA: 437/572) Row 15731495 (NC_000018.9:28974643:A: 6/572)	-	Jul 13, 2019 (153)
74	Northern Sweden Submission ignored due to conflicting rows: Row 15731494 (NC_000018.9:28974643:AA: 437/572) Row 15731495 (NC_000018.9:28974643:A: 6/572)	-	Jul 13, 2019 (153)
75	8.3KJPN Submission ignored due to conflicting rows: Row 82635373 (NC_000018.9:28974643:AA: 16390/16760) Row 82635374 (NC_000018.9:28974643:AAA: 36/16760) Row 82635375 (NC_000018.9:28974643:A: 328/16760)	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 82635373 (NC_000018.9:28974643:AA: 16390/16760) Row 82635374 (NC_000018.9:28974643:AAA: 36/16760) Row 82635375 (NC_000018.9:28974643:A: 328/16760)	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 82635373 (NC_000018.9:28974643:AA: 16390/16760) Row 82635374 (NC_000018.9:28974643:AAA: 36/16760) Row 82635375 (NC_000018.9:28974643:A: 328/16760)	-	Apr 27, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 116149645 (NC_000018.10:31394680:AA: 27643/28254) Row 116149646 (NC_000018.10:31394680:AAA: 63/28254) Row 116149647 (NC_000018.10:31394680:A: 545/28254)	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 116149645 (NC_000018.10:31394680:AA: 27643/28254) Row 116149646 (NC_000018.10:31394680:AAA: 63/28254) Row 116149647 (NC_000018.10:31394680:A: 545/28254)	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 116149645 (NC_000018.10:31394680:AA: 27643/28254) Row 116149646 (NC_000018.10:31394680:AAA: 63/28254) Row 116149647 (NC_000018.10:31394680:A: 545/28254)	-	Oct 16, 2022 (156)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40926067 (NC_000018.9:28974644:A: 3338/3708) Row 40926068 (NC_000018.9:28974643:AAA: 178/3708)	-	Oct 12, 2018 (152)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40926067 (NC_000018.9:28974644:A: 3338/3708) Row 40926068 (NC_000018.9:28974643:AAA: 178/3708)	-	Oct 12, 2018 (152)
83	ALFA	NC_000018.10 - 31394681	Apr 27, 2021 (155)

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)
rs35093913	May 23, 2006 (127)
rs56228408	Apr 25, 2013 (138)
rs143674689	Sep 17, 2011 (135)
rs149825685	May 11, 2012 (137)
rs150728496	May 11, 2012 (137)
rs66504056	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4320023264	NC_000018.10:31394680:AAAA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss1708946586, ss1708946633, ss5224666067, ss5827390164	NC_000018.9:28974643:AAA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3701440366, ss3979937956, ss4320023263, ss5304900412, ss5782312542	NC_000018.10:31394680:AAA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss256196145, ss289353585, ss294935173	NC_000018.8:27228641:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss77841843, ss77843949, ss294935174	NC_000018.8:27228654:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
73881453, ss666708679, ss1377319148, ss1536865729, ss1809002117, ss2031365324, ss3016347635, ss3644422712, ss3742446629, ss3788342780, ss3793278429, ss3798164733, ss3835114705, ss3841174202, ss5224666066, ss5827390163	NC_000018.9:28974643:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss947379903, ss1710756349, ss1710756361	NC_000018.9:28974644:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3063888652, ss3064733317, ss3065677288, ss3645480844, ss3650768937, ss3820517729, ss3846675793, ss4320023262, ss5304900411, ss5497710018, ss5782312541, ss5852007649, ss5873620923	NC_000018.10:31394680:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3701440365, ss3979937957	NC_000018.10:31394681:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss40951550, ss288505662	NT_010966.14:10463745:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss95708466	NT_010966.14:10463758:AA:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3742446630, ss5224666068	NC_000018.9:28974643:A:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
	NC_000018.9:28974644:A:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4320023261, ss5304900413, ss5782312543	NC_000018.10:31394680:A:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3701440364, ss3979937958	NC_000018.10:31394682:A:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss40898214	NT_010966.14:10463745:A:	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss40951550	NT_010966.14:10463745:AA:A	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4320023260	NC_000018.10:31394680::A	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3030543635	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000018.10:31394680:AAAAAAAAAAAA… NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)

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

No publications for rs5823804

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5823804