Name: rs907079191
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.

rs907079191

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:131466905-131466924 (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(AC)₅ / del(AC)₄ / del(AC)₃ / d…
del(AC)₅ / del(AC)₄ / del(AC)₃ / delACAC / delAC / dupAC / dupACAC / dup(AC)₃ / dup(AC)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(AC)₄=0.000023 (6/264690, TOPMED)
dupAC=0.00276 (48/17367, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MKLN1 : 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	17367	ACACACACACACACACACAC=0.99683	ACACACACACAC=0.00000, ACACACACACACACAC=0.00000, ACACACACACACACACAC=0.00040, ACACACACACACACACACACAC=0.00276, ACACACACACACACACACACACAC=0.00000, ACACACACACACACACACACACACAC=0.00000, ACACACACACACACACACACACACACAC=0.00000	0.994583	0.000115	0.005302	8
European	Sub	13843	ACACACACACACACACACAC=0.99603	ACACACACACAC=0.00000, ACACACACACACACAC=0.00000, ACACACACACACACACAC=0.00051, ACACACACACACACACACACAC=0.00347, ACACACACACACACACACACACAC=0.00000, ACACACACACACACACACACACACAC=0.00000, ACACACACACACACACACACACACACAC=0.00000	0.993202	0.000145	0.006653	6
African	Sub	2318	ACACACACACACACACACAC=1.0000	ACACACACACAC=0.0000, ACACACACACACACAC=0.0000, ACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	88	ACACACACACACACACACAC=1.00	ACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
African American	Sub	2230	ACACACACACACACACACAC=1.0000	ACACACACACAC=0.0000, ACACACACACACACAC=0.0000, ACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	108	ACACACACACACACACACAC=1.000	ACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	ACACACACACACACACACAC=1.00	ACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	ACACACACACACACACACAC=1.00	ACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	122	ACACACACACACACACACAC=1.000	ACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	450	ACACACACACACACACACAC=1.000	ACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	ACACACACACACACACACAC=1.00	ACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other	Sub	436	ACACACACACACACACACAC=1.000	ACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000	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
TopMed	Global	Study-wide	264690	(AC)₁₀=0.999977	del(AC)₄=0.000023
Allele Frequency Aggregator	Total	Global	17367	(AC)₁₀=0.99683	del(AC)₄=0.00000, delACAC=0.00000, delAC=0.00040, dupAC=0.00276, dupACAC=0.00000, dup(AC)₃=0.00000, dup(AC)₄=0.00000
Allele Frequency Aggregator	European	Sub	13843	(AC)₁₀=0.99603	del(AC)₄=0.00000, delACAC=0.00000, delAC=0.00051, dupAC=0.00347, dupACAC=0.00000, dup(AC)₃=0.00000, dup(AC)₄=0.00000
Allele Frequency Aggregator	African	Sub	2318	(AC)₁₀=1.0000	del(AC)₄=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0000, dupACAC=0.0000, dup(AC)₃=0.0000, dup(AC)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	450	(AC)₁₀=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Other	Sub	436	(AC)₁₀=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	122	(AC)₁₀=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	Asian	Sub	108	(AC)₁₀=1.000	del(AC)₄=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(AC)₁₀=1.00	del(AC)₄=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00

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 7	NC_000007.14:g.131466905AC[5]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[6]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[7]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[8]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[9]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[11]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[12]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[13]
GRCh38.p14 chr 7	NC_000007.14:g.131466905AC[14]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[5]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[6]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[7]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[8]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[9]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[11]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[12]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[13]
GRCh37.p13 chr 7	NC_000007.13:g.131151664AC[14]

Gene: MKLN1, muskelin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MKLN1 transcript variant 1	NM_001145354.2:c.1859+490… NM_001145354.2:c.1859+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant 3	NM_001321316.2:c.1307+490… NM_001321316.2:c.1307+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant 2	NM_013255.5:c.1928+490AC[… NM_013255.5:c.1928+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant X1	XM_006715993.4:c.1928+490… XM_006715993.4:c.1928+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant X2	XM_047420401.1:c.1859+490… XM_047420401.1:c.1859+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant X4	XM_047420402.1:c.1652+490… XM_047420402.1:c.1652+490AC[5]	N/A	Intron Variant
MKLN1 transcript variant X3	XM_011516224.4:c.	N/A	Genic Downstream 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	(AC)₁₀=	del(AC)₅	del(AC)₄	del(AC)₃	delACAC	delAC	dupAC	dupACAC	dup(AC)₃	dup(AC)₄
GRCh38.p14 chr 7	NC_000007.14:g.131466905_131466924=	NC_000007.14:g.131466905AC[5]	NC_000007.14:g.131466905AC[6]	NC_000007.14:g.131466905AC[7]	NC_000007.14:g.131466905AC[8]	NC_000007.14:g.131466905AC[9]	NC_000007.14:g.131466905AC[11]	NC_000007.14:g.131466905AC[12]	NC_000007.14:g.131466905AC[13]	NC_000007.14:g.131466905AC[14]
GRCh37.p13 chr 7	NC_000007.13:g.131151664_131151683=	NC_000007.13:g.131151664AC[5]	NC_000007.13:g.131151664AC[6]	NC_000007.13:g.131151664AC[7]	NC_000007.13:g.131151664AC[8]	NC_000007.13:g.131151664AC[9]	NC_000007.13:g.131151664AC[11]	NC_000007.13:g.131151664AC[12]	NC_000007.13:g.131151664AC[13]	NC_000007.13:g.131151664AC[14]
MKLN1 transcript variant 1	NM_001145354.1:c.1859+490=	NM_001145354.1:c.1859+490AC[5]	NM_001145354.1:c.1859+490AC[6]	NM_001145354.1:c.1859+490AC[7]	NM_001145354.1:c.1859+490AC[8]	NM_001145354.1:c.1859+490AC[9]	NM_001145354.1:c.1859+490AC[11]	NM_001145354.1:c.1859+490AC[12]	NM_001145354.1:c.1859+490AC[13]	NM_001145354.1:c.1859+490AC[14]
MKLN1 transcript variant 1	NM_001145354.2:c.1859+490=	NM_001145354.2:c.1859+490AC[5]	NM_001145354.2:c.1859+490AC[6]	NM_001145354.2:c.1859+490AC[7]	NM_001145354.2:c.1859+490AC[8]	NM_001145354.2:c.1859+490AC[9]	NM_001145354.2:c.1859+490AC[11]	NM_001145354.2:c.1859+490AC[12]	NM_001145354.2:c.1859+490AC[13]	NM_001145354.2:c.1859+490AC[14]
MKLN1 transcript variant 3	NM_001321316.2:c.1307+490=	NM_001321316.2:c.1307+490AC[5]	NM_001321316.2:c.1307+490AC[6]	NM_001321316.2:c.1307+490AC[7]	NM_001321316.2:c.1307+490AC[8]	NM_001321316.2:c.1307+490AC[9]	NM_001321316.2:c.1307+490AC[11]	NM_001321316.2:c.1307+490AC[12]	NM_001321316.2:c.1307+490AC[13]	NM_001321316.2:c.1307+490AC[14]
MKLN1 transcript variant 2	NM_013255.4:c.1928+490=	NM_013255.4:c.1928+490AC[5]	NM_013255.4:c.1928+490AC[6]	NM_013255.4:c.1928+490AC[7]	NM_013255.4:c.1928+490AC[8]	NM_013255.4:c.1928+490AC[9]	NM_013255.4:c.1928+490AC[11]	NM_013255.4:c.1928+490AC[12]	NM_013255.4:c.1928+490AC[13]	NM_013255.4:c.1928+490AC[14]
MKLN1 transcript variant 2	NM_013255.5:c.1928+490=	NM_013255.5:c.1928+490AC[5]	NM_013255.5:c.1928+490AC[6]	NM_013255.5:c.1928+490AC[7]	NM_013255.5:c.1928+490AC[8]	NM_013255.5:c.1928+490AC[9]	NM_013255.5:c.1928+490AC[11]	NM_013255.5:c.1928+490AC[12]	NM_013255.5:c.1928+490AC[13]	NM_013255.5:c.1928+490AC[14]
MKLN1 transcript variant X1	XM_005250355.1:c.1928+490=	XM_005250355.1:c.1928+490AC[5]	XM_005250355.1:c.1928+490AC[6]	XM_005250355.1:c.1928+490AC[7]	XM_005250355.1:c.1928+490AC[8]	XM_005250355.1:c.1928+490AC[9]	XM_005250355.1:c.1928+490AC[11]	XM_005250355.1:c.1928+490AC[12]	XM_005250355.1:c.1928+490AC[13]	XM_005250355.1:c.1928+490AC[14]
MKLN1 transcript variant X2	XM_005250356.1:c.1307+490=	XM_005250356.1:c.1307+490AC[5]	XM_005250356.1:c.1307+490AC[6]	XM_005250356.1:c.1307+490AC[7]	XM_005250356.1:c.1307+490AC[8]	XM_005250356.1:c.1307+490AC[9]	XM_005250356.1:c.1307+490AC[11]	XM_005250356.1:c.1307+490AC[12]	XM_005250356.1:c.1307+490AC[13]	XM_005250356.1:c.1307+490AC[14]
MKLN1 transcript variant X1	XM_006715993.4:c.1928+490=	XM_006715993.4:c.1928+490AC[5]	XM_006715993.4:c.1928+490AC[6]	XM_006715993.4:c.1928+490AC[7]	XM_006715993.4:c.1928+490AC[8]	XM_006715993.4:c.1928+490AC[9]	XM_006715993.4:c.1928+490AC[11]	XM_006715993.4:c.1928+490AC[12]	XM_006715993.4:c.1928+490AC[13]	XM_006715993.4:c.1928+490AC[14]
MKLN1 transcript variant X2	XM_047420401.1:c.1859+490=	XM_047420401.1:c.1859+490AC[5]	XM_047420401.1:c.1859+490AC[6]	XM_047420401.1:c.1859+490AC[7]	XM_047420401.1:c.1859+490AC[8]	XM_047420401.1:c.1859+490AC[9]	XM_047420401.1:c.1859+490AC[11]	XM_047420401.1:c.1859+490AC[12]	XM_047420401.1:c.1859+490AC[13]	XM_047420401.1:c.1859+490AC[14]
MKLN1 transcript variant X4	XM_047420402.1:c.1652+490=	XM_047420402.1:c.1652+490AC[5]	XM_047420402.1:c.1652+490AC[6]	XM_047420402.1:c.1652+490AC[7]	XM_047420402.1:c.1652+490AC[8]	XM_047420402.1:c.1652+490AC[9]	XM_047420402.1:c.1652+490AC[11]	XM_047420402.1:c.1652+490AC[12]	XM_047420402.1:c.1652+490AC[13]	XM_047420402.1:c.1652+490AC[14]

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#.

35 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288873122	Jan 10, 2018 (151)
2	EVA_DECODE	ss3720722080	Jul 13, 2019 (153)
3	EVA_DECODE	ss3720722081	Jul 13, 2019 (153)
4	EVA_DECODE	ss3720722082	Jul 13, 2019 (153)
5	EVA_DECODE	ss3720722083	Jul 13, 2019 (153)
6	EVA_DECODE	ss3720722084	Jul 13, 2019 (153)
7	ACPOP	ss3735084647	Jul 13, 2019 (153)
8	ACPOP	ss3735084648	Jul 13, 2019 (153)
9	EVA	ss3830827333	Apr 26, 2020 (154)
10	GNOMAD	ss4173377871	Apr 26, 2021 (155)
11	GNOMAD	ss4173377872	Apr 26, 2021 (155)
12	GNOMAD	ss4173377873	Apr 26, 2021 (155)
13	GNOMAD	ss4173377874	Apr 26, 2021 (155)
14	GNOMAD	ss4173377877	Apr 26, 2021 (155)
15	GNOMAD	ss4173377878	Apr 26, 2021 (155)
16	GNOMAD	ss4173377879	Apr 26, 2021 (155)
17	TOPMED	ss4764303477	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5185653969	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5185653970	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5185653971	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5185653972	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5185653973	Apr 26, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5274792400	Oct 13, 2022 (156)
24	HUGCELL_USP	ss5471672742	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5471672743	Oct 13, 2022 (156)
26	HUGCELL_USP	ss5471672744	Oct 13, 2022 (156)
27	HUGCELL_USP	ss5471672745	Oct 13, 2022 (156)
28	HUGCELL_USP	ss5471672746	Oct 13, 2022 (156)
29	TOMMO_GENOMICS	ss5726669677	Oct 13, 2022 (156)
30	TOMMO_GENOMICS	ss5726669678	Oct 13, 2022 (156)
31	TOMMO_GENOMICS	ss5726669679	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5726669680	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5726669682	Oct 13, 2022 (156)
34	EVA	ss5823546822	Oct 13, 2022 (156)
35	EVA	ss5823546823	Oct 13, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277111734 (NC_000007.14:131466904::AC 3481/138870) Row 277111735 (NC_000007.14:131466904::ACAC 4290/138874) Row 277111736 (NC_000007.14:131466904::ACACAC 212/138898)...	-	Apr 26, 2021 (155)
43	Northern Sweden Submission ignored due to conflicting rows: Row 8369512 (NC_000007.13:131151663::AC 3/600) Row 8369513 (NC_000007.13:131151663:AC: 3/600)	-	Jul 13, 2019 (153)
44	Northern Sweden Submission ignored due to conflicting rows: Row 8369512 (NC_000007.13:131151663::AC 3/600) Row 8369513 (NC_000007.13:131151663:AC: 3/600)	-	Jul 13, 2019 (153)
45	8.3KJPN Submission ignored due to conflicting rows: Row 43623276 (NC_000007.13:131151663::AC 75/16756) Row 43623277 (NC_000007.13:131151663:AC: 31/16756) Row 43623278 (NC_000007.13:131151663::ACACAC 4/16756)...	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 43623276 (NC_000007.13:131151663::AC 75/16756) Row 43623277 (NC_000007.13:131151663:AC: 31/16756) Row 43623278 (NC_000007.13:131151663::ACACAC 4/16756)...	-	Apr 26, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 43623276 (NC_000007.13:131151663::AC 75/16756) Row 43623277 (NC_000007.13:131151663:AC: 31/16756) Row 43623278 (NC_000007.13:131151663::ACACAC 4/16756)...	-	Apr 26, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 43623276 (NC_000007.13:131151663::AC 75/16756) Row 43623277 (NC_000007.13:131151663:AC: 31/16756) Row 43623278 (NC_000007.13:131151663::ACACAC 4/16756)...	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 43623276 (NC_000007.13:131151663::AC 75/16756) Row 43623277 (NC_000007.13:131151663:AC: 31/16756) Row 43623278 (NC_000007.13:131151663::ACACAC 4/16756)...	-	Apr 26, 2021 (155)
50	14KJPN Submission ignored due to conflicting rows: Row 60506781 (NC_000007.14:131466904:AC: 55/28258) Row 60506782 (NC_000007.14:131466904::AC 115/28258) Row 60506783 (NC_000007.14:131466904::ACAC 681/28258)...	-	Oct 13, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 60506781 (NC_000007.14:131466904:AC: 55/28258) Row 60506782 (NC_000007.14:131466904::AC 115/28258) Row 60506783 (NC_000007.14:131466904::ACAC 681/28258)...	-	Oct 13, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 60506781 (NC_000007.14:131466904:AC: 55/28258) Row 60506782 (NC_000007.14:131466904::AC 115/28258) Row 60506783 (NC_000007.14:131466904::ACAC 681/28258)...	-	Oct 13, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 60506781 (NC_000007.14:131466904:AC: 55/28258) Row 60506782 (NC_000007.14:131466904::AC 115/28258) Row 60506783 (NC_000007.14:131466904::ACAC 681/28258)...	-	Oct 13, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 60506781 (NC_000007.14:131466904:AC: 55/28258) Row 60506782 (NC_000007.14:131466904::AC 115/28258) Row 60506783 (NC_000007.14:131466904::ACAC 681/28258)...	-	Oct 13, 2022 (156)
55	TopMed	NC_000007.14 - 131466905	Apr 26, 2021 (155)
56	ALFA	NC_000007.14 - 131466905	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
ss3720722084	NC_000007.14:131466904:ACACACACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACAC	(self)
601681036, ss4173377879, ss4764303477	NC_000007.14:131466904:ACACACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACAC	(self)
ss5185653973	NC_000007.13:131151663:ACACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACAC	(self)
ss5726669682	NC_000007.14:131466904:ACACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACAC
ss4173377878	NC_000007.14:131466904:ACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACAC	(self)
ss3720722083	NC_000007.14:131466910:ACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACAC	(self)
ss3735084648, ss5185653970, ss5823546822	NC_000007.13:131151663:AC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC	(self)
ss4173377877, ss5471672744, ss5726669677	NC_000007.14:131466904:AC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC	(self)
ss3720722082	NC_000007.14:131466912:AC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACAC	(self)
ss3735084647, ss3830827333, ss5185653969, ss5823546823	NC_000007.13:131151663::AC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss4173377871, ss5274792400, ss5471672742, ss5726669678	NC_000007.14:131466904::AC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss3720722081	NC_000007.14:131466914::AC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss288873122	NC_000007.12:130802223::ACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
ss5185653972	NC_000007.13:131151663::ACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
ss4173377872, ss5471672743, ss5726669679	NC_000007.14:131466904::ACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
ss3720722080	NC_000007.14:131466914::ACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
ss5185653971	NC_000007.13:131151663::ACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss4173377873, ss5471672745, ss5726669680	NC_000007.14:131466904::ACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss4173377874, ss5471672746	NC_000007.14:131466904::ACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
12644647219	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2467465419	NC_000007.13:131151663:ACACACAC:	NC_000007.14:131466904:ACACACACACA… NC_000007.14:131466904:ACACACACACACACACACAC:ACACACACACAC

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

No publications for rs907079191

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

rs907079191