Name: rs57730968
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.

rs57730968

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:7588610-7588626 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.3229 (1617/5008, 1000G)
del(A)₄=0.0000 (0/2352, ALFA)
delAAA=0.0000 (0/2352, ALFA) (+ 6 more)
delAA=0.0000 (0/2352, ALFA)
delA=0.0000 (0/2352, ALFA)
dupA=0.0000 (0/2352, ALFA)
dupAA=0.0000 (0/2352, ALFA)
dupAAA=0.0000 (0/2352, ALFA)
dup(A)₅=0.0000 (0/2352, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SNRNP48 : 2KB Upstream 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	2352	AAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1320	AAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	624	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	32	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	592	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	48	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	38	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	18	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	196	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	26	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	120	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₁₇=0.6771	delA=0.3229
1000Genomes	African	Sub	1322	(A)₁₇=0.6036	delA=0.3964
1000Genomes	East Asian	Sub	1008	(A)₁₇=0.6895	delA=0.3105
1000Genomes	Europe	Sub	1006	(A)₁₇=0.7276	delA=0.2724
1000Genomes	South Asian	Sub	978	(A)₁₇=0.691	delA=0.309
1000Genomes	American	Sub	694	(A)₁₇=0.706	delA=0.294
Allele Frequency Aggregator	Total	Global	2352	(A)₁₇=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	1320	(A)₁₇=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	624	(A)₁₇=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	196	(A)₁₇=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	120	(A)₁₇=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	48	(A)₁₇=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(A)₁₇=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(A)₁₇=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=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 6	NC_000006.12:g.7588623_7588626del
GRCh38.p14 chr 6	NC_000006.12:g.7588624_7588626del
GRCh38.p14 chr 6	NC_000006.12:g.7588625_7588626del
GRCh38.p14 chr 6	NC_000006.12:g.7588626del
GRCh38.p14 chr 6	NC_000006.12:g.7588626dup
GRCh38.p14 chr 6	NC_000006.12:g.7588625_7588626dup
GRCh38.p14 chr 6	NC_000006.12:g.7588624_7588626dup
GRCh38.p14 chr 6	NC_000006.12:g.7588622_7588626dup
GRCh38.p14 chr 6	NC_000006.12:g.7588618_7588626dup
GRCh37.p13 chr 6	NC_000006.11:g.7588856_7588859del
GRCh37.p13 chr 6	NC_000006.11:g.7588857_7588859del
GRCh37.p13 chr 6	NC_000006.11:g.7588858_7588859del
GRCh37.p13 chr 6	NC_000006.11:g.7588859del
GRCh37.p13 chr 6	NC_000006.11:g.7588859dup
GRCh37.p13 chr 6	NC_000006.11:g.7588858_7588859dup
GRCh37.p13 chr 6	NC_000006.11:g.7588857_7588859dup
GRCh37.p13 chr 6	NC_000006.11:g.7588855_7588859dup
GRCh37.p13 chr 6	NC_000006.11:g.7588851_7588859dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51987_51990del
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51988_51990del
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51989_51990del
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51990del
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51990dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51989_51990dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51988_51990dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51986_51990dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51982_51990dup

Gene: SNRNP48, small nuclear ribonucleoprotein U11/U12 subunit 48 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SNRNP48 transcript	NM_152551.4:c.	N/A	Upstream Transcript Variant
SNRNP48 transcript variant X1	XM_011514312.4:c.	N/A	Upstream Transcript Variant
SNRNP48 transcript variant X2	XM_047418238.1:c.	N/A	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)₁₇=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₉
GRCh38.p14 chr 6	NC_000006.12:g.7588610_7588626=	NC_000006.12:g.7588623_7588626del	NC_000006.12:g.7588624_7588626del	NC_000006.12:g.7588625_7588626del	NC_000006.12:g.7588626del	NC_000006.12:g.7588626dup	NC_000006.12:g.7588625_7588626dup	NC_000006.12:g.7588624_7588626dup	NC_000006.12:g.7588622_7588626dup	NC_000006.12:g.7588618_7588626dup
GRCh37.p13 chr 6	NC_000006.11:g.7588843_7588859=	NC_000006.11:g.7588856_7588859del	NC_000006.11:g.7588857_7588859del	NC_000006.11:g.7588858_7588859del	NC_000006.11:g.7588859del	NC_000006.11:g.7588859dup	NC_000006.11:g.7588858_7588859dup	NC_000006.11:g.7588857_7588859dup	NC_000006.11:g.7588855_7588859dup	NC_000006.11:g.7588851_7588859dup
DSP RefSeqGene (LRG_423)	NG_008803.1:g.51974_51990=	NG_008803.1:g.51987_51990del	NG_008803.1:g.51988_51990del	NG_008803.1:g.51989_51990del	NG_008803.1:g.51990del	NG_008803.1:g.51990dup	NG_008803.1:g.51989_51990dup	NG_008803.1:g.51988_51990dup	NG_008803.1:g.51986_51990dup	NG_008803.1:g.51982_51990dup

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#.

51 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80989315	Dec 15, 2007 (144)
2	HGSV	ss81596349	Dec 14, 2007 (129)
3	HUMANGENOME_JCVI	ss95418405	Feb 06, 2009 (144)
4	HUMANGENOME_JCVI	ss98450239	Feb 13, 2009 (130)
5	PJP	ss295263084	May 09, 2011 (137)
6	PJP	ss295263085	Jan 10, 2018 (151)
7	BILGI_BIOE	ss666341738	Apr 25, 2013 (138)
8	1000GENOMES	ss1375093818	Feb 12, 2016 (147)
9	EVA_UK10K_ALSPAC	ss1705027984	Feb 12, 2016 (147)
10	EVA_UK10K_TWINSUK	ss1705027993	Feb 12, 2016 (147)
11	EVA_UK10K_TWINSUK	ss1710251414	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710251418	Apr 01, 2015 (144)
13	SWEGEN	ss2998472471	Nov 08, 2017 (151)
14	MCHAISSO	ss3065067259	Nov 17, 2017 (151)
15	EVA_DECODE	ss3716529545	Jul 13, 2019 (153)
16	EVA_DECODE	ss3716529546	Jul 13, 2019 (153)
17	EVA_DECODE	ss3716529547	Jul 13, 2019 (153)
18	EVA_DECODE	ss3716529548	Jul 13, 2019 (153)
19	EVA_DECODE	ss3716529549	Jul 13, 2019 (153)
20	EVA_DECODE	ss3716529550	Jul 13, 2019 (153)
21	ACPOP	ss3733179460	Jul 13, 2019 (153)
22	ACPOP	ss3733179461	Jul 13, 2019 (153)
23	PACBIO	ss3785365005	Jul 13, 2019 (153)
24	PACBIO	ss3790731766	Jul 13, 2019 (153)
25	PACBIO	ss3795608978	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3807740696	Jul 13, 2019 (153)
27	EVA	ss3829717700	Apr 26, 2020 (154)
28	KOGIC	ss3958448690	Apr 26, 2020 (154)
29	KOGIC	ss3958448691	Apr 26, 2020 (154)
30	KOGIC	ss3958448692	Apr 26, 2020 (154)
31	GNOMAD	ss4136452036	Apr 26, 2021 (155)
32	GNOMAD	ss4136452037	Apr 26, 2021 (155)
33	GNOMAD	ss4136452038	Apr 26, 2021 (155)
34	GNOMAD	ss4136452039	Apr 26, 2021 (155)
35	GNOMAD	ss4136452040	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5176037255	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5176037256	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5176037257	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5267305031	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5267305032	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5267305033	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5267305034	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5465105240	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5465105241	Oct 13, 2022 (156)
45	TOMMO_GENOMICS	ss5713669183	Oct 13, 2022 (156)
46	TOMMO_GENOMICS	ss5713669184	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5713669186	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5713669187	Oct 13, 2022 (156)
49	EVA	ss5841756195	Oct 13, 2022 (156)
50	EVA	ss5841756196	Oct 13, 2022 (156)
51	EVA	ss5855190476	Oct 13, 2022 (156)
52	1000Genomes	NC_000006.11 - 7588843	Oct 12, 2018 (152)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17037788 (NC_000006.11:7588842:A: 1079/3854) Row 17037789 (NC_000006.11:7588842::AA 1081/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17037788 (NC_000006.11:7588842:A: 1079/3854) Row 17037789 (NC_000006.11:7588842::AA 1081/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 216322170 (NC_000006.12:7588609::A 35407/113212) Row 216322171 (NC_000006.12:7588609::AA 93/113480) Row 216322172 (NC_000006.12:7588609:A: 32005/113330)...	-	Apr 26, 2021 (155)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 14826691 (NC_000006.12:7588610:A: 447/1824) Row 14826692 (NC_000006.12:7588611::A 180/1824) Row 14826693 (NC_000006.12:7588609:AA: 13/1824)	-	Apr 26, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 14826691 (NC_000006.12:7588610:A: 447/1824) Row 14826692 (NC_000006.12:7588611::A 180/1824) Row 14826693 (NC_000006.12:7588609:AA: 13/1824)	-	Apr 26, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 14826691 (NC_000006.12:7588610:A: 447/1824) Row 14826692 (NC_000006.12:7588611::A 180/1824) Row 14826693 (NC_000006.12:7588609:AA: 13/1824)	-	Apr 26, 2020 (154)
64	Northern Sweden Submission ignored due to conflicting rows: Row 6464325 (NC_000006.11:7588842::A 132/510) Row 6464326 (NC_000006.11:7588842:A: 56/510)	-	Jul 13, 2019 (153)
65	Northern Sweden Submission ignored due to conflicting rows: Row 6464325 (NC_000006.11:7588842::A 132/510) Row 6464326 (NC_000006.11:7588842:A: 56/510)	-	Jul 13, 2019 (153)
66	8.3KJPN Submission ignored due to conflicting rows: Row 34006562 (NC_000006.11:7588842:A: 2703/16722) Row 34006563 (NC_000006.11:7588842::A 1674/16722) Row 34006564 (NC_000006.11:7588842:AA: 8/16722)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 34006562 (NC_000006.11:7588842:A: 2703/16722) Row 34006563 (NC_000006.11:7588842::A 1674/16722) Row 34006564 (NC_000006.11:7588842:AA: 8/16722)	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 34006562 (NC_000006.11:7588842:A: 2703/16722) Row 34006563 (NC_000006.11:7588842::A 1674/16722) Row 34006564 (NC_000006.11:7588842:AA: 8/16722)	-	Apr 26, 2021 (155)
69	14KJPN Submission ignored due to conflicting rows: Row 47506287 (NC_000006.12:7588609:A: 4721/28258) Row 47506288 (NC_000006.12:7588609::A 2951/28258) Row 47506290 (NC_000006.12:7588609:AA: 13/28258)...	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 47506287 (NC_000006.12:7588609:A: 4721/28258) Row 47506288 (NC_000006.12:7588609::A 2951/28258) Row 47506290 (NC_000006.12:7588609:AA: 13/28258)...	-	Oct 13, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 47506287 (NC_000006.12:7588609:A: 4721/28258) Row 47506288 (NC_000006.12:7588609::A 2951/28258) Row 47506290 (NC_000006.12:7588609:AA: 13/28258)...	-	Oct 13, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 47506287 (NC_000006.12:7588609:A: 4721/28258) Row 47506288 (NC_000006.12:7588609::A 2951/28258) Row 47506290 (NC_000006.12:7588609:AA: 13/28258)...	-	Oct 13, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17037788 (NC_000006.11:7588842:A: 1002/3708) Row 17037789 (NC_000006.11:7588842::AA 978/3708)	-	Oct 12, 2018 (152)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17037788 (NC_000006.11:7588842:A: 1002/3708) Row 17037789 (NC_000006.11:7588842::AA 978/3708)	-	Oct 12, 2018 (152)
75	ALFA	NC_000006.12 - 7588610	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).

Associated ID	History Updated (Build)
rs58359415	Jul 01, 2015 (144)
rs67956596	May 11, 2012 (137)
rs67956597	Feb 27, 2009 (130)
rs67956598	Feb 27, 2009 (130)
rs67956599	Feb 27, 2009 (130)
rs71888871	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4136452040	NC_000006.12:7588609:AAAA:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3716529550, ss4136452039	NC_000006.12:7588609:AAA:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5176037257	NC_000006.11:7588842:AA:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3065067259, ss3958448692, ss4136452038, ss5267305034, ss5713669186, ss5855190476	NC_000006.12:7588609:AA:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3716529549	NC_000006.12:7588610:AA:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss81596349	NC_000006.9:7533857:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss295263084	NC_000006.10:7533841:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
30602015, ss1375093818, ss1705027984, ss1705027993, ss2998472471, ss3733179461, ss5176037255	NC_000006.11:7588842:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3807740696, ss5267305032, ss5465105240, ss5713669183	NC_000006.12:7588609:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3958448690	NC_000006.12:7588610:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3716529548	NC_000006.12:7588611:A:	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss295263085	NC_000006.10:7533858::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss666341738, ss3733179460, ss3785365005, ss3790731766, ss3795608978, ss3829717700, ss5176037256, ss5841756195	NC_000006.11:7588842::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4136452036, ss5267305031, ss5465105241, ss5713669184	NC_000006.12:7588609::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3958448691	NC_000006.12:7588611::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3716529547	NC_000006.12:7588612::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss98450239	NT_007592.15:7528842::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95418405	NT_007592.15:7528859::A	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5841756196	NC_000006.11:7588842::AA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710251414, ss1710251418	NC_000006.11:7588843::AA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4136452037, ss5267305033, ss5713669187	NC_000006.12:7588609::AA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3716529546	NC_000006.12:7588612::AA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss80989315	NT_007592.15:7528859::AA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10228215976	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3716529545	NC_000006.12:7588612::AAAAAAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3489446411	NC_000006.12:7588609::AAAAA	NC_000006.12:7588609:AAAAAAAAAAAAA… NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs57730968

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

rs57730968