Name: rs548494062
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.

rs548494062

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:36507618-36507627 (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: delGG / delG / dupG / dupGG / dupG…
delGG / delG / dupG / dupGG / dupGGG / dup(G)₄ / dup(G)₅ / dup(G)₆ / dup(G)₇ / dup(G)₈ / dup(G)₉ / dup(G)₁₀ / ins(G)₁₁ / ins(G)₁₂ / ins(G)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: (G)₁₀=0.3764 (1885/5008, 1000G)
delGG=0.000 (0/732, ALFA)
delG=0.000 (0/732, ALFA) (+ 8 more)
dupG=0.000 (0/732, ALFA)
dupGG=0.000 (0/732, ALFA)
dupGGG=0.000 (0/732, ALFA)
dup(G)₄=0.000 (0/732, ALFA)
dup(G)₅=0.000 (0/732, ALFA)
dup(G)₆=0.000 (0/732, ALFA)
dup(G)₇=0.000 (0/732, ALFA)
(G)₁₀=0.47 (18/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SFTA3 : 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	732	GGGGGGGGGG=1.000	GGGGGGGG=0.000, GGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
European	Sub	58	GGGGGGGGGG=1.00	GGGGGGGG=0.00, GGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
African	Sub	630	GGGGGGGGGG=1.000	GGGGGGGG=0.000, GGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
African Others	Sub	24	GGGGGGGGGG=1.00	GGGGGGGG=0.00, GGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
African American	Sub	606	GGGGGGGGGG=1.000	GGGGGGGG=0.000, GGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	GGGGGGGGGG=0	GGGGGGGG=0, GGGGGGGGG=0, GGGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGGG=0	0	0	0	N/A
East Asian	Sub	0	GGGGGGGGGG=0	GGGGGGGG=0, GGGGGGGGG=0, GGGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGGG=0	0	0	0	N/A
Other Asian	Sub	0	GGGGGGGGGG=0	GGGGGGGG=0, GGGGGGGGG=0, GGGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGGG=0	0	0	0	N/A
Latin American 1	Sub	6	GGGGGGGGGG=1.0	GGGGGGGG=0.0, GGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	10	GGGGGGGGGG=1.0	GGGGGGGG=0.0, GGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	GGGGGGGGGG=1.0	GGGGGGGG=0.0, GGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
Other	Sub	26	GGGGGGGGGG=1.00	GGGGGGGG=0.00, GGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupG=0.6236
1000Genomes	African	Sub	1322	- No frequency provided	dupG=0.1997
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupG=0.9117
1000Genomes	Europe	Sub	1006	- No frequency provided	dupG=0.7545
1000Genomes	South Asian	Sub	978	- No frequency provided	dupG=0.749
1000Genomes	American	Sub	694	- No frequency provided	dupG=0.646
Allele Frequency Aggregator	Total	Global	732	(G)₁₀=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000, dup(G)₆=0.000, dup(G)₇=0.000
Allele Frequency Aggregator	African	Sub	630	(G)₁₀=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000, dup(G)₆=0.000, dup(G)₇=0.000
Allele Frequency Aggregator	European	Sub	58	(G)₁₀=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00, dup(G)₆=0.00, dup(G)₇=0.00
Allele Frequency Aggregator	Other	Sub	26	(G)₁₀=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00, dup(G)₆=0.00, dup(G)₇=0.00
Allele Frequency Aggregator	Latin American 2	Sub	10	(G)₁₀=1.0	delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0, dup(G)₅=0.0, dup(G)₆=0.0, dup(G)₇=0.0
Allele Frequency Aggregator	Latin American 1	Sub	6	(G)₁₀=1.0	delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0, dup(G)₅=0.0, dup(G)₆=0.0, dup(G)₇=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(G)₁₀=1.0	delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0, dup(G)₅=0.0, dup(G)₆=0.0, dup(G)₇=0.0
Allele Frequency Aggregator	Asian	Sub	0	(G)₁₀=0	delGG=0, delG=0, dupG=0, dupGG=0, dupGGG=0, dup(G)₄=0, dup(G)₅=0, dup(G)₆=0, dup(G)₇=0
The Danish reference pan genome	Danish	Study-wide	38	- No frequency provided	dupG=0.53

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 14	NC_000014.9:g.36507626_36507627del
GRCh38.p14 chr 14	NC_000014.9:g.36507627del
GRCh38.p14 chr 14	NC_000014.9:g.36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507626_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507625_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507624_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507623_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507622_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507621_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507620_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507619_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507618_36507627dup
GRCh38.p14 chr 14	NC_000014.9:g.36507627_36507628insGGGGGGGGGGG
GRCh38.p14 chr 14	NC_000014.9:g.36507627_36507628insGGGGGGGGGGGG
GRCh38.p14 chr 14	NC_000014.9:g.36507627_36507628insGGGGGGGGGGGGG
GRCh37.p13 chr 14	NC_000014.8:g.36976831_36976832del
GRCh37.p13 chr 14	NC_000014.8:g.36976832del
GRCh37.p13 chr 14	NC_000014.8:g.36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976831_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976830_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976829_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976828_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976827_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976826_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976825_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976824_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976823_36976832dup
GRCh37.p13 chr 14	NC_000014.8:g.36976832_36976833insGGGGGGGGGGG
GRCh37.p13 chr 14	NC_000014.8:g.36976832_36976833insGGGGGGGGGGGG
GRCh37.p13 chr 14	NC_000014.8:g.36976832_36976833insGGGGGGGGGGGGG

Gene: SFTA3, surfactant associated 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SFTA3 transcript variant 5	NR_138597.1:n.	N/A	Intron Variant
SFTA3 transcript variant 6	NR_138598.1:n.	N/A	Intron Variant
SFTA3 transcript variant 7	NR_138599.1:n.	N/A	Intron Variant
SFTA3 transcript variant 8	NR_138600.1:n.	N/A	Intron Variant
SFTA3 transcript variant 9	NR_138601.1:n.	N/A	Intron Variant
SFTA3 transcript variant 1	NR_161362.1:n.	N/A	Intron Variant
SFTA3 transcript variant 2	NR_161363.1:n.	N/A	Intron Variant
SFTA3 transcript variant 3	NR_161364.1:n.	N/A	Intron Variant
SFTA3 transcript variant 4	NR_161365.1:n.	N/A	Intron 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	(G)₁₀=	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄	dup(G)₅	dup(G)₆	dup(G)₇	dup(G)₈	dup(G)₉	dup(G)₁₀	ins(G)₁₁	ins(G)₁₂	ins(G)₁₃
GRCh38.p14 chr 14	NC_000014.9:g.36507618_36507627=	NC_000014.9:g.36507626_36507627del	NC_000014.9:g.36507627del	NC_000014.9:g.36507627dup	NC_000014.9:g.36507626_36507627dup	NC_000014.9:g.36507625_36507627dup	NC_000014.9:g.36507624_36507627dup	NC_000014.9:g.36507623_36507627dup	NC_000014.9:g.36507622_36507627dup	NC_000014.9:g.36507621_36507627dup	NC_000014.9:g.36507620_36507627dup	NC_000014.9:g.36507619_36507627dup	NC_000014.9:g.36507618_36507627dup	NC_000014.9:g.36507627_36507628insGGGGGGGGGGG	NC_000014.9:g.36507627_36507628insGGGGGGGGGGGG	NC_000014.9:g.36507627_36507628insGGGGGGGGGGGGG
GRCh37.p13 chr 14	NC_000014.8:g.36976823_36976832=	NC_000014.8:g.36976831_36976832del	NC_000014.8:g.36976832del	NC_000014.8:g.36976832dup	NC_000014.8:g.36976831_36976832dup	NC_000014.8:g.36976830_36976832dup	NC_000014.8:g.36976829_36976832dup	NC_000014.8:g.36976828_36976832dup	NC_000014.8:g.36976827_36976832dup	NC_000014.8:g.36976826_36976832dup	NC_000014.8:g.36976825_36976832dup	NC_000014.8:g.36976824_36976832dup	NC_000014.8:g.36976823_36976832dup	NC_000014.8:g.36976832_36976833insGGGGGGGGGGG	NC_000014.8:g.36976832_36976833insGGGGGGGGGGGG	NC_000014.8:g.36976832_36976833insGGGGGGGGGGGGG
SFTA3 transcript variant 1	NM_001101341.1:c.42+5494=	NM_001101341.1:c.42+5493_42+5494del	NM_001101341.1:c.42+5494del	NM_001101341.1:c.42+5494dup	NM_001101341.1:c.42+5493_42+5494dup	NM_001101341.1:c.42+5492_42+5494dup	NM_001101341.1:c.42+5491_42+5494dup	NM_001101341.1:c.42+5490_42+5494dup	NM_001101341.1:c.42+5489_42+5494dup	NM_001101341.1:c.42+5488_42+5494dup	NM_001101341.1:c.42+5487_42+5494dup	NM_001101341.1:c.42+5486_42+5494dup	NM_001101341.1:c.42+5485_42+5494dup	NM_001101341.1:c.42+5494_42+5495insCCCCCCCCCCC	NM_001101341.1:c.42+5494_42+5495insCCCCCCCCCCCC	NM_001101341.1:c.42+5494_42+5495insCCCCCCCCCCCCC

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#.

67 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4292067	Oct 12, 2018 (152)
2	HGSV	ss83684512	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss95638044	Oct 12, 2018 (152)
4	HUMANGENOME_JCVI	ss96889796	Oct 12, 2018 (152)
5	PJP	ss294827365	Oct 12, 2018 (152)
6	LUNTER	ss552350398	Oct 12, 2018 (152)
7	SSMP	ss664221894	Apr 01, 2015 (144)
8	1000GENOMES	ss1373940710	Aug 21, 2014 (142)
9	EVA_GENOME_DK	ss1574740541	Apr 01, 2015 (144)
10	SWEGEN	ss3012019593	Nov 08, 2017 (151)
11	URBANLAB	ss3650181978	Oct 12, 2018 (152)
12	EVA_DECODE	ss3696460615	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696460616	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696460617	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696460618	Jul 13, 2019 (153)
16	EVA_DECODE	ss3696460619	Jul 13, 2019 (153)
17	EVA_DECODE	ss3696460620	Jul 13, 2019 (153)
18	ACPOP	ss3740282093	Jul 13, 2019 (153)
19	ACPOP	ss3740282094	Jul 13, 2019 (153)
20	ACPOP	ss3740282095	Jul 13, 2019 (153)
21	ACPOP	ss3740282096	Jul 13, 2019 (153)
22	ACPOP	ss3740282097	Jul 13, 2019 (153)
23	ACPOP	ss3740282098	Jul 13, 2019 (153)
24	PACBIO	ss3787634374	Jul 13, 2019 (153)
25	PACBIO	ss3787634375	Jul 13, 2019 (153)
26	PACBIO	ss3792677654	Jul 13, 2019 (153)
27	PACBIO	ss3792677655	Jul 13, 2019 (153)
28	PACBIO	ss3797561768	Jul 13, 2019 (153)
29	PACBIO	ss3797561769	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3817517699	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3817517700	Jul 13, 2019 (153)
32	EVA	ss3833859531	Apr 27, 2020 (154)
33	KOGIC	ss3974714453	Apr 27, 2020 (154)
34	KOGIC	ss3974714454	Apr 27, 2020 (154)
35	KOGIC	ss3974714455	Apr 27, 2020 (154)
36	KOGIC	ss3974714456	Apr 27, 2020 (154)
37	KOGIC	ss3974714457	Apr 27, 2020 (154)
38	KOGIC	ss3974714458	Apr 27, 2020 (154)
39	GNOMAD	ss4276111142	Apr 26, 2021 (155)
40	GNOMAD	ss4276111144	Apr 26, 2021 (155)
41	GNOMAD	ss4276111150	Apr 26, 2021 (155)
42	GNOMAD	ss4276111152	Apr 26, 2021 (155)
43	GNOMAD	ss4276111155	Apr 26, 2021 (155)
44	GNOMAD	ss4276111156	Apr 26, 2021 (155)
45	GNOMAD	ss4276111157	Apr 26, 2021 (155)
46	GNOMAD	ss4276111158	Apr 26, 2021 (155)
47	GNOMAD	ss4276111159	Apr 26, 2021 (155)
48	GNOMAD	ss4276111161	Apr 26, 2021 (155)
49	GNOMAD	ss4276111162	Apr 26, 2021 (155)
50	GNOMAD	ss4276111163	Apr 26, 2021 (155)
51	GNOMAD	ss4276111164	Apr 26, 2021 (155)
52	GNOMAD	ss4276111174	Apr 26, 2021 (155)
53	GNOMAD	ss4276111175	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5295829938	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5489923361	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5489923362	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5489923363	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5489923364	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5489923365	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5765393143	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5765393144	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5765393145	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5765393147	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5765393148	Oct 16, 2022 (156)
65	EVA	ss5840952810	Oct 16, 2022 (156)
66	EVA	ss5840952811	Oct 16, 2022 (156)
67	EVA	ss5840952812	Oct 16, 2022 (156)
68	1000Genomes	NC_000014.8 - 36976823	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000014.8 - 36976823	Apr 27, 2020 (154)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 447934205 (NC_000014.9:36507617::G 21833/79218) Row 447934207 (NC_000014.9:36507617::GG 11561/78640) Row 447934213 (NC_000014.9:36507617::GGG 17616/78366)...	-	Apr 26, 2021 (155)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 31092454 (NC_000014.9:36507617::GGGGGGGGG 85/1440) Row 31092455 (NC_000014.9:36507617::G 327/1440) Row 31092456 (NC_000014.9:36507617::GGG 317/1440)...	-	Apr 27, 2020 (154)
91	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
93	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
94	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
95	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
96	Northern Sweden Submission ignored due to conflicting rows: Row 13566958 (NC_000014.8:36976822::G 210/538) Row 13566959 (NC_000014.8:36976822::GGG 164/538) Row 13566960 (NC_000014.8:36976822::GG 53/538)...	-	Jul 13, 2019 (153)
97	14KJPN Submission ignored due to conflicting rows: Row 99230247 (NC_000014.9:36507617::GGG 6335/25366) Row 99230248 (NC_000014.9:36507617::G 7491/25366) Row 99230249 (NC_000014.9:36507617::GG 1291/25366)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 99230247 (NC_000014.9:36507617::GGG 6335/25366) Row 99230248 (NC_000014.9:36507617::G 7491/25366) Row 99230249 (NC_000014.9:36507617::GG 1291/25366)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 99230247 (NC_000014.9:36507617::GGG 6335/25366) Row 99230248 (NC_000014.9:36507617::G 7491/25366) Row 99230249 (NC_000014.9:36507617::GG 1291/25366)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 99230247 (NC_000014.9:36507617::GGG 6335/25366) Row 99230248 (NC_000014.9:36507617::G 7491/25366) Row 99230249 (NC_000014.9:36507617::GG 1291/25366)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 99230247 (NC_000014.9:36507617::GGG 6335/25366) Row 99230248 (NC_000014.9:36507617::G 7491/25366) Row 99230249 (NC_000014.9:36507617::GG 1291/25366)...	-	Oct 16, 2022 (156)
102	ALFA	NC_000014.9 - 36507618	Apr 26, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4276111175	NC_000014.9:36507617:GG:	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGG	(self)
ss3012019593, ss3740282097	NC_000014.8:36976822:G:	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGG	(self)
ss3817517699, ss4276111174, ss5489923364	NC_000014.9:36507617:G:	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGG	(self)
ss552350398	NC_000014.7:36046573::G	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	(self)
ss294827365	NC_000014.7:36046580::G	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	(self)
63521504, 443310, ss664221894, ss1373940710, ss1574740541, ss3740282093, ss3787634374, ss3792677654, ss3797561768, ss5840952810	NC_000014.8:36976822::G	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	(self)
ss3650181978, ss3696460620, ss3817517700, ss3974714454, ss4276111142, ss5489923361, ss5765393144	NC_000014.9:36507617::G	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGG	(self)
ss3740282095, ss3787634375, ss3792677655, ss3797561769, ss3833859531, ss5840952812	NC_000014.8:36976822::GG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3696460619, ss3974714457, ss4276111144, ss5295829938, ss5489923362, ss5765393145	NC_000014.9:36507617::GG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG	(self)
ss96889796	NT_026437.12:17976822::GG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3740282094, ss5840952811	NC_000014.8:36976822::GGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3696460618, ss3974714455, ss4276111150, ss5489923363, ss5765393143	NC_000014.9:36507617::GGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4292067, ss83684512, ss95638044	NT_026437.12:17976832::GGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3740282096	NC_000014.8:36976822::GGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3696460617, ss3974714458, ss4276111152, ss5489923365, ss5765393148	NC_000014.9:36507617::GGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3696460616, ss4276111155, ss5765393147	NC_000014.9:36507617::GGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss4276111156	NC_000014.9:36507617::GGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
ss3696460615, ss4276111157	NC_000014.9:36507617::GGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
13042335343	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss4276111158	NC_000014.9:36507617::GGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss3740282098	NC_000014.8:36976822::GGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
ss3974714453, ss4276111159	NC_000014.9:36507617::GGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
ss3974714456, ss4276111161	NC_000014.9:36507617::GGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	(self)
ss4276111162	NC_000014.9:36507617::GGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	(self)
ss4276111163	NC_000014.9:36507617::GGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG	(self)
ss4276111164	NC_000014.9:36507617::GGGGGGGGGGGGG	NC_000014.9:36507617:GGGGGGGGGG:GG… NC_000014.9:36507617:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG	(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 rs548494062

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
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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

rs548494062