Name: rs1308439463
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.

rs1308439463

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:74284234-74284253 (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)₁₀ / del(A)₇ / del(A)₅ / del…
del(A)₁₀ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.00000 (0/11752, ALFA)
del(A)₇=0.00000 (0/11752, ALFA)
delAAA=0.00000 (0/11752, ALFA) (+ 5 more)
delAA=0.00000 (0/11752, ALFA)
delA=0.00000 (0/11752, ALFA)
dupA=0.00000 (0/11752, ALFA)
dupAA=0.00000 (0/11752, ALFA)
del(A)₇=0.006 (3/532, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYB5A : 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	HWEP
Total	Global	11752	AAAAAAAAAAAAAAAAAAAA=1.00000	AAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	7556	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2780	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	106	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African American	Sub	2674	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	108	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
East Asian	Sub	84	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	24	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	146	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	610	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	94	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	458	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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
Allele Frequency Aggregator	Total	Global	11752	(A)₂₀=1.00000	del(A)₁₀=0.00000, del(A)₇=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	7556	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₇=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	2780	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₇=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	458	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	108	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₇=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Northern Sweden	ACPOP	Study-wide	532	(A)₂₀=0.994	del(A)₇=0.006

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.74284244_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284247_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284249_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284250_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284251_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284252_74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284253del
GRCh38.p14 chr 18	NC_000018.10:g.74284253dup
GRCh38.p14 chr 18	NC_000018.10:g.74284252_74284253dup
GRCh38.p14 chr 18	NC_000018.10:g.74284251_74284253dup
GRCh38.p14 chr 18	NC_000018.10:g.74284250_74284253dup
GRCh37.p13 chr 18	NC_000018.9:g.71951479_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951482_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951484_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951485_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951486_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951487_71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951488del
GRCh37.p13 chr 18	NC_000018.9:g.71951488dup
GRCh37.p13 chr 18	NC_000018.9:g.71951487_71951488dup
GRCh37.p13 chr 18	NC_000018.9:g.71951486_71951488dup
GRCh37.p13 chr 18	NC_000018.9:g.71951485_71951488dup
CYB5A RefSeqGene	NG_023211.1:g.12744_12753del
CYB5A RefSeqGene	NG_023211.1:g.12747_12753del
CYB5A RefSeqGene	NG_023211.1:g.12749_12753del
CYB5A RefSeqGene	NG_023211.1:g.12750_12753del
CYB5A RefSeqGene	NG_023211.1:g.12751_12753del
CYB5A RefSeqGene	NG_023211.1:g.12752_12753del
CYB5A RefSeqGene	NG_023211.1:g.12753del
CYB5A RefSeqGene	NG_023211.1:g.12753dup
CYB5A RefSeqGene	NG_023211.1:g.12752_12753dup
CYB5A RefSeqGene	NG_023211.1:g.12751_12753dup
CYB5A RefSeqGene	NG_023211.1:g.12750_12753dup

Gene: CYB5A, cytochrome b5 type A (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYB5A transcript variant 3	NM_001190807.3:c.129+7504… NM_001190807.3:c.129+7504_129+7513del	N/A	Intron Variant
CYB5A transcript variant 2	NM_001914.4:c.129+7504_12… NM_001914.4:c.129+7504_129+7513del	N/A	Intron Variant
CYB5A transcript variant 1	NM_148923.4:c.129+7504_12… NM_148923.4:c.129+7504_129+7513del	N/A	Intron Variant
CYB5A transcript variant X1	XM_011525835.3:c.129+7504… XM_011525835.3:c.129+7504_129+7513del	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	(A)₂₀=	del(A)₁₀	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 18	NC_000018.10:g.74284234_74284253=	NC_000018.10:g.74284244_74284253del	NC_000018.10:g.74284247_74284253del	NC_000018.10:g.74284249_74284253del	NC_000018.10:g.74284250_74284253del	NC_000018.10:g.74284251_74284253del	NC_000018.10:g.74284252_74284253del	NC_000018.10:g.74284253del	NC_000018.10:g.74284253dup	NC_000018.10:g.74284252_74284253dup	NC_000018.10:g.74284251_74284253dup	NC_000018.10:g.74284250_74284253dup
GRCh37.p13 chr 18	NC_000018.9:g.71951469_71951488=	NC_000018.9:g.71951479_71951488del	NC_000018.9:g.71951482_71951488del	NC_000018.9:g.71951484_71951488del	NC_000018.9:g.71951485_71951488del	NC_000018.9:g.71951486_71951488del	NC_000018.9:g.71951487_71951488del	NC_000018.9:g.71951488del	NC_000018.9:g.71951488dup	NC_000018.9:g.71951487_71951488dup	NC_000018.9:g.71951486_71951488dup	NC_000018.9:g.71951485_71951488dup
CYB5A RefSeqGene	NG_023211.1:g.12734_12753=	NG_023211.1:g.12744_12753del	NG_023211.1:g.12747_12753del	NG_023211.1:g.12749_12753del	NG_023211.1:g.12750_12753del	NG_023211.1:g.12751_12753del	NG_023211.1:g.12752_12753del	NG_023211.1:g.12753del	NG_023211.1:g.12753dup	NG_023211.1:g.12752_12753dup	NG_023211.1:g.12751_12753dup	NG_023211.1:g.12750_12753dup
CYB5A transcript variant 3	NM_001190807.2:c.129+7513=	NM_001190807.2:c.129+7504_129+7513del	NM_001190807.2:c.129+7507_129+7513del	NM_001190807.2:c.129+7509_129+7513del	NM_001190807.2:c.129+7510_129+7513del	NM_001190807.2:c.129+7511_129+7513del	NM_001190807.2:c.129+7512_129+7513del	NM_001190807.2:c.129+7513del	NM_001190807.2:c.129+7513dup	NM_001190807.2:c.129+7512_129+7513dup	NM_001190807.2:c.129+7511_129+7513dup	NM_001190807.2:c.129+7510_129+7513dup
CYB5A transcript variant 3	NM_001190807.3:c.129+7513=	NM_001190807.3:c.129+7504_129+7513del	NM_001190807.3:c.129+7507_129+7513del	NM_001190807.3:c.129+7509_129+7513del	NM_001190807.3:c.129+7510_129+7513del	NM_001190807.3:c.129+7511_129+7513del	NM_001190807.3:c.129+7512_129+7513del	NM_001190807.3:c.129+7513del	NM_001190807.3:c.129+7513dup	NM_001190807.3:c.129+7512_129+7513dup	NM_001190807.3:c.129+7511_129+7513dup	NM_001190807.3:c.129+7510_129+7513dup
CYB5A transcript variant 2	NM_001914.3:c.129+7513=	NM_001914.3:c.129+7504_129+7513del	NM_001914.3:c.129+7507_129+7513del	NM_001914.3:c.129+7509_129+7513del	NM_001914.3:c.129+7510_129+7513del	NM_001914.3:c.129+7511_129+7513del	NM_001914.3:c.129+7512_129+7513del	NM_001914.3:c.129+7513del	NM_001914.3:c.129+7513dup	NM_001914.3:c.129+7512_129+7513dup	NM_001914.3:c.129+7511_129+7513dup	NM_001914.3:c.129+7510_129+7513dup
CYB5A transcript variant 2	NM_001914.4:c.129+7513=	NM_001914.4:c.129+7504_129+7513del	NM_001914.4:c.129+7507_129+7513del	NM_001914.4:c.129+7509_129+7513del	NM_001914.4:c.129+7510_129+7513del	NM_001914.4:c.129+7511_129+7513del	NM_001914.4:c.129+7512_129+7513del	NM_001914.4:c.129+7513del	NM_001914.4:c.129+7513dup	NM_001914.4:c.129+7512_129+7513dup	NM_001914.4:c.129+7511_129+7513dup	NM_001914.4:c.129+7510_129+7513dup
CYB5A transcript variant 1	NM_148923.3:c.129+7513=	NM_148923.3:c.129+7504_129+7513del	NM_148923.3:c.129+7507_129+7513del	NM_148923.3:c.129+7509_129+7513del	NM_148923.3:c.129+7510_129+7513del	NM_148923.3:c.129+7511_129+7513del	NM_148923.3:c.129+7512_129+7513del	NM_148923.3:c.129+7513del	NM_148923.3:c.129+7513dup	NM_148923.3:c.129+7512_129+7513dup	NM_148923.3:c.129+7511_129+7513dup	NM_148923.3:c.129+7510_129+7513dup
CYB5A transcript variant 1	NM_148923.4:c.129+7513=	NM_148923.4:c.129+7504_129+7513del	NM_148923.4:c.129+7507_129+7513del	NM_148923.4:c.129+7509_129+7513del	NM_148923.4:c.129+7510_129+7513del	NM_148923.4:c.129+7511_129+7513del	NM_148923.4:c.129+7512_129+7513del	NM_148923.4:c.129+7513del	NM_148923.4:c.129+7513dup	NM_148923.4:c.129+7512_129+7513dup	NM_148923.4:c.129+7511_129+7513dup	NM_148923.4:c.129+7510_129+7513dup
CYB5A transcript variant X1	XM_011525835.3:c.129+7513=	XM_011525835.3:c.129+7504_129+7513del	XM_011525835.3:c.129+7507_129+7513del	XM_011525835.3:c.129+7509_129+7513del	XM_011525835.3:c.129+7510_129+7513del	XM_011525835.3:c.129+7511_129+7513del	XM_011525835.3:c.129+7512_129+7513del	XM_011525835.3:c.129+7513del	XM_011525835.3:c.129+7513dup	XM_011525835.3:c.129+7512_129+7513dup	XM_011525835.3:c.129+7511_129+7513dup	XM_011525835.3:c.129+7510_129+7513dup

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#.

30 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3702048529	Jul 13, 2019 (153)
2	ACPOP	ss3742724124	Jul 13, 2019 (153)
3	EVA	ss3835274474	Apr 27, 2020 (154)
4	KOGIC	ss3980516845	Apr 27, 2020 (154)
5	KOGIC	ss3980516846	Apr 27, 2020 (154)
6	KOGIC	ss3980516847	Apr 27, 2020 (154)
7	GNOMAD	ss4325343724	Apr 26, 2021 (155)
8	GNOMAD	ss4325343725	Apr 26, 2021 (155)
9	GNOMAD	ss4325343726	Apr 26, 2021 (155)
10	GNOMAD	ss4325343727	Apr 26, 2021 (155)
11	GNOMAD	ss4325343728	Apr 26, 2021 (155)
12	GNOMAD	ss4325343729	Apr 26, 2021 (155)
13	GNOMAD	ss4325343730	Apr 26, 2021 (155)
14	GNOMAD	ss4325343731	Apr 26, 2021 (155)
15	GNOMAD	ss4325343732	Apr 26, 2021 (155)
16	GNOMAD	ss4325343733	Apr 26, 2021 (155)
17	TOPMED	ss5063480085	Apr 26, 2021 (155)
18	TOPMED	ss5063480086	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5226037151	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5226037152	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5226037153	Apr 26, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5305973531	Oct 16, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5305973532	Oct 16, 2022 (156)
24	HUGCELL_USP	ss5498680667	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5498680668	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5498680669	Oct 16, 2022 (156)
27	TOMMO_GENOMICS	ss5784072826	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5784072827	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5784072828	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5784072829	Oct 16, 2022 (156)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 530099471 (NC_000018.10:74284233::A 378/67768) Row 530099472 (NC_000018.10:74284233::AA 13/67766) Row 530099473 (NC_000018.10:74284233::AAA 0/67964)...	-	Apr 26, 2021 (155)
41	Korean Genome Project Submission ignored due to conflicting rows: Row 36894846 (NC_000018.10:74284236:A: 67/1792) Row 36894847 (NC_000018.10:74284237::A 97/1792) Row 36894848 (NC_000018.10:74284235:AA: 12/1792)	-	Apr 27, 2020 (154)
42	Korean Genome Project Submission ignored due to conflicting rows: Row 36894846 (NC_000018.10:74284236:A: 67/1792) Row 36894847 (NC_000018.10:74284237::A 97/1792) Row 36894848 (NC_000018.10:74284235:AA: 12/1792)	-	Apr 27, 2020 (154)
43	Korean Genome Project Submission ignored due to conflicting rows: Row 36894846 (NC_000018.10:74284236:A: 67/1792) Row 36894847 (NC_000018.10:74284237::A 97/1792) Row 36894848 (NC_000018.10:74284235:AA: 12/1792)	-	Apr 27, 2020 (154)
44	Northern Sweden	NC_000018.9 - 71951469	Jul 13, 2019 (153)
45	8.3KJPN Submission ignored due to conflicting rows: Row 84006458 (NC_000018.9:71951468::A 37/16518) Row 84006459 (NC_000018.9:71951468:AA: 1/16518) Row 84006460 (NC_000018.9:71951468:AAAAAAA: 2/16518)	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 84006458 (NC_000018.9:71951468::A 37/16518) Row 84006459 (NC_000018.9:71951468:AA: 1/16518) Row 84006460 (NC_000018.9:71951468:AAAAAAA: 2/16518)	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 84006458 (NC_000018.9:71951468::A 37/16518) Row 84006459 (NC_000018.9:71951468:AA: 1/16518) Row 84006460 (NC_000018.9:71951468:AAAAAAA: 2/16518)	-	Apr 26, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 117909930 (NC_000018.10:74284233::A 75/27974) Row 117909931 (NC_000018.10:74284233:AA: 1/27974) Row 117909932 (NC_000018.10:74284233:A: 14/27974)...	-	Oct 16, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 117909930 (NC_000018.10:74284233::A 75/27974) Row 117909931 (NC_000018.10:74284233:AA: 1/27974) Row 117909932 (NC_000018.10:74284233:A: 14/27974)...	-	Oct 16, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 117909930 (NC_000018.10:74284233::A 75/27974) Row 117909931 (NC_000018.10:74284233:AA: 1/27974) Row 117909932 (NC_000018.10:74284233:A: 14/27974)...	-	Oct 16, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 117909930 (NC_000018.10:74284233::A 75/27974) Row 117909931 (NC_000018.10:74284233:AA: 1/27974) Row 117909932 (NC_000018.10:74284233:A: 14/27974)...	-	Oct 16, 2022 (156)
52	TopMed Submission ignored due to conflicting rows: Row 279025748 (NC_000018.10:74284233:AAA: 1/264690) Row 279025749 (NC_000018.10:74284233:AAAAAAA: 8/264690)	-	Apr 26, 2021 (155)
53	TopMed Submission ignored due to conflicting rows: Row 279025748 (NC_000018.10:74284233:AAA: 1/264690) Row 279025749 (NC_000018.10:74284233:AAAAAAA: 8/264690)	-	Apr 26, 2021 (155)
54	ALFA	NC_000018.10 - 74284234	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
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
16008989, ss3742724124, ss5226037153	NC_000018.9:71951468:AAAAAAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4325343733, ss5063480086, ss5784072829	NC_000018.10:74284233:AAAAAAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4325343732	NC_000018.10:74284233:AAAAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4325343731	NC_000018.10:74284233:AAAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4325343730, ss5063480085	NC_000018.10:74284233:AAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5226037152	NC_000018.9:71951468:AA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4325343729, ss5498680669, ss5784072827	NC_000018.10:74284233:AA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3980516847	NC_000018.10:74284235:AA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4325343728, ss5305973531, ss5498680668, ss5784072828	NC_000018.10:74284233:A:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3980516845	NC_000018.10:74284236:A:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3835274474, ss5226037151	NC_000018.9:71951468::A	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4325343724, ss5305973532, ss5498680667, ss5784072826	NC_000018.10:74284233::A	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3980516846	NC_000018.10:74284237::A	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4325343725	NC_000018.10:74284233::AA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
1381852064	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4325343726	NC_000018.10:74284233::AAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702048529	NC_000018.10:74284252::AAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4325343727	NC_000018.10:74284233::AAAA	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3284280854	NC_000018.10:74284233:AAAAAAAAAA:	NC_000018.10:74284233:AAAAAAAAAAAA… NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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

No publications for rs1308439463

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

rs1308439463