Name: rs11294605
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.

rs11294605

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:75990275-75990287 (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(C)₄ / delCCC / delCC / delC / …
del(C)₄ / delCCC / delCC / delC / dupC / dupCC
Variation Type: Indel Insertion and Deletion
Frequency: delC=0.2861 (1623/5672, ALFA)
(C)₁₃=0.3480 (1743/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SDAD1 : Intron Variant
SDAD1-AS1 : 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	5672	CCCCCCCCCCCCC=0.5093	CCCCCCCCCC=0.0005, CCCCCCCCCCC=0.1916, CCCCCCCCCCCC=0.2861, CCCCCCCCCCCCCC=0.0123, CCCCCCCCCCCCCCC=0.0000	0.521669	0.194757	0.283574	32
European	Sub	5422	CCCCCCCCCCCCC=0.4878	CCCCCCCCCC=0.0006, CCCCCCCCCCC=0.1997, CCCCCCCCCCCC=0.2990, CCCCCCCCCCCCCC=0.0129, CCCCCCCCCCCCCCC=0.0000	0.488266	0.208357	0.303377	32
African	Sub	160	CCCCCCCCCCCCC=1.000	CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	CCCCCCCCCCCCC=1.0	CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	156	CCCCCCCCCCCCC=1.000	CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	CCCCCCCCCCCCC=1.0	CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	CCCCCCCCCCCCC=1.0	CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	CCCCCCCCCCCCC=0	CCCCCCCCCC=0, CCCCCCCCCCC=0, CCCCCCCCCCCC=0, CCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCC=0	0	0	0	N/A
Latin American 1	Sub	6	CCCCCCCCCCCCC=1.0	CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	16	CCCCCCCCCCCCC=1.00	CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	20	CCCCCCCCCCCCC=1.00	CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other	Sub	46	CCCCCCCCCCCCC=0.87	CCCCCCCCCC=0.00, CCCCCCCCCCC=0.09, CCCCCCCCCCCC=0.04, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCC=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5672	(C)₁₃=0.5093	delCCC=0.0005, delCC=0.1916, delC=0.2861, dupC=0.0123, dupCC=0.0000
Allele Frequency Aggregator	European	Sub	5422	(C)₁₃=0.4878	delCCC=0.0006, delCC=0.1997, delC=0.2990, dupC=0.0129, dupCC=0.0000
Allele Frequency Aggregator	African	Sub	160	(C)₁₃=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Other	Sub	46	(C)₁₃=0.87	delCCC=0.00, delCC=0.09, delC=0.04, dupC=0.00, dupCC=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(C)₁₃=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
Allele Frequency Aggregator	Latin American 2	Sub	16	(C)₁₃=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	6	(C)₁₃=1.0	delCCC=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0
Allele Frequency Aggregator	Asian	Sub	2	(C)₁₃=1.0	delCCC=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0
1000Genomes	Global	Study-wide	5008	(C)₁₃=0.3480	delCC=0.6520
1000Genomes	African	Sub	1322	(C)₁₃=0.3434	delCC=0.6566
1000Genomes	East Asian	Sub	1008	(C)₁₃=0.1845	delCC=0.8155
1000Genomes	Europe	Sub	1006	(C)₁₃=0.4394	delCC=0.5606
1000Genomes	South Asian	Sub	978	(C)₁₃=0.476	delCC=0.524
1000Genomes	American	Sub	694	(C)₁₃=0.281	delCC=0.719

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 4	NC_000004.12:g.75990284_75990287del
GRCh38.p14 chr 4	NC_000004.12:g.75990285_75990287del
GRCh38.p14 chr 4	NC_000004.12:g.75990286_75990287del
GRCh38.p14 chr 4	NC_000004.12:g.75990287del
GRCh38.p14 chr 4	NC_000004.12:g.75990287dup
GRCh38.p14 chr 4	NC_000004.12:g.75990286_75990287dup
GRCh37.p13 chr 4	NC_000004.11:g.76911437_76911440del
GRCh37.p13 chr 4	NC_000004.11:g.76911438_76911440del
GRCh37.p13 chr 4	NC_000004.11:g.76911439_76911440del
GRCh37.p13 chr 4	NC_000004.11:g.76911440del
GRCh37.p13 chr 4	NC_000004.11:g.76911440dup
GRCh37.p13 chr 4	NC_000004.11:g.76911439_76911440dup

Gene: SDAD1, SDA1 domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SDAD1 transcript variant 2	NM_001288983.2:c.90+474_9… NM_001288983.2:c.90+474_90+477del	N/A	Intron Variant
SDAD1 transcript variant 3	NM_001288984.2:c.-277+474… NM_001288984.2:c.-277+474_-277+477del	N/A	Intron Variant
SDAD1 transcript variant 1	NM_018115.4:c.90+474_90+4… NM_018115.4:c.90+474_90+477del	N/A	Intron Variant
SDAD1 transcript variant X1	XM_005263102.5:c.15+418_1… XM_005263102.5:c.15+418_15+421del	N/A	Intron Variant
SDAD1 transcript variant X2	XM_047415888.1:c.	N/A	Genic Upstream Transcript Variant

Gene: SDAD1-AS1, SDAD1 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SDAD1-AS1 transcript	NR_125906.1: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	(C)₁₃=	del(C)₄	delCCC	delCC	delC	dupC	dupCC
GRCh38.p14 chr 4	NC_000004.12:g.75990275_75990287=	NC_000004.12:g.75990284_75990287del	NC_000004.12:g.75990285_75990287del	NC_000004.12:g.75990286_75990287del	NC_000004.12:g.75990287del	NC_000004.12:g.75990287dup	NC_000004.12:g.75990286_75990287dup
GRCh37.p13 chr 4	NC_000004.11:g.76911428_76911440=	NC_000004.11:g.76911437_76911440del	NC_000004.11:g.76911438_76911440del	NC_000004.11:g.76911439_76911440del	NC_000004.11:g.76911440del	NC_000004.11:g.76911440dup	NC_000004.11:g.76911439_76911440dup
SDAD1 transcript variant 2	NM_001288983.2:c.90+477=	NM_001288983.2:c.90+474_90+477del	NM_001288983.2:c.90+475_90+477del	NM_001288983.2:c.90+476_90+477del	NM_001288983.2:c.90+477del	NM_001288983.2:c.90+477dup	NM_001288983.2:c.90+476_90+477dup
SDAD1 transcript variant 3	NM_001288984.2:c.-277+477=	NM_001288984.2:c.-277+474_-277+477del	NM_001288984.2:c.-277+475_-277+477del	NM_001288984.2:c.-277+476_-277+477del	NM_001288984.2:c.-277+477del	NM_001288984.2:c.-277+477dup	NM_001288984.2:c.-277+476_-277+477dup
SDAD1 transcript	NM_018115.2:c.90+477=	NM_018115.2:c.90+474_90+477del	NM_018115.2:c.90+475_90+477del	NM_018115.2:c.90+476_90+477del	NM_018115.2:c.90+477del	NM_018115.2:c.90+477dup	NM_018115.2:c.90+476_90+477dup
SDAD1 transcript variant 1	NM_018115.4:c.90+477=	NM_018115.4:c.90+474_90+477del	NM_018115.4:c.90+475_90+477del	NM_018115.4:c.90+476_90+477del	NM_018115.4:c.90+477del	NM_018115.4:c.90+477dup	NM_018115.4:c.90+476_90+477dup
SDAD1 transcript variant X1	XM_005263102.1:c.15+421=	XM_005263102.1:c.15+418_15+421del	XM_005263102.1:c.15+419_15+421del	XM_005263102.1:c.15+420_15+421del	XM_005263102.1:c.15+421del	XM_005263102.1:c.15+421dup	XM_005263102.1:c.15+420_15+421dup
SDAD1 transcript variant X1	XM_005263102.5:c.15+421=	XM_005263102.5:c.15+418_15+421del	XM_005263102.5:c.15+419_15+421del	XM_005263102.5:c.15+420_15+421del	XM_005263102.5:c.15+421del	XM_005263102.5:c.15+421dup	XM_005263102.5:c.15+420_15+421dup
SDAD1 transcript variant X2	XM_005263103.1:c.90+477=	XM_005263103.1:c.90+474_90+477del	XM_005263103.1:c.90+475_90+477del	XM_005263103.1:c.90+476_90+477del	XM_005263103.1:c.90+477del	XM_005263103.1:c.90+477dup	XM_005263103.1:c.90+476_90+477dup
SDAD1 transcript variant X3	XM_005263104.1:c.-277+477=	XM_005263104.1:c.-277+474_-277+477del	XM_005263104.1:c.-277+475_-277+477del	XM_005263104.1:c.-277+476_-277+477del	XM_005263104.1:c.-277+477del	XM_005263104.1:c.-277+477dup	XM_005263104.1:c.-277+476_-277+477dup
SDAD1 transcript variant X4	XM_005263105.1:c.-277+421=	XM_005263105.1:c.-277+418_-277+421del	XM_005263105.1:c.-277+419_-277+421del	XM_005263105.1:c.-277+420_-277+421del	XM_005263105.1:c.-277+421del	XM_005263105.1:c.-277+421dup	XM_005263105.1:c.-277+420_-277+421dup

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#.

59 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42372978	Dec 03, 2013 (138)
2	HGSV	ss79991788	Aug 21, 2014 (142)
3	HUMANGENOME_JCVI	ss98912274	Feb 13, 2009 (137)
4	GMI	ss288543220	May 04, 2012 (137)
5	PJP	ss295172592	May 09, 2011 (137)
6	TISHKOFF	ss554098091	Apr 25, 2013 (138)
7	BILGI_BIOE	ss666264653	Apr 25, 2013 (138)
8	1000GENOMES	ss1372338633	Aug 21, 2014 (142)
9	DDI	ss1536413401	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1704215531	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1704215557	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710153623	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710153624	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1710153625	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1710153626	Apr 01, 2015 (144)
16	HAMMER_LAB	ss1801676677	Sep 08, 2015 (146)
17	HAMMER_LAB	ss1801676679	Sep 08, 2015 (146)
18	HAMMER_LAB	ss1801676682	Sep 08, 2015 (146)
19	MCHAISSO	ss3064108359	Nov 08, 2017 (151)
20	BEROUKHIMLAB	ss3644157809	Oct 12, 2018 (152)
21	EVA_DECODE	ss3712340395	Jul 13, 2019 (153)
22	EVA_DECODE	ss3712340396	Jul 13, 2019 (153)
23	EVA_DECODE	ss3712340397	Jul 13, 2019 (153)
24	EVA_DECODE	ss3712340398	Jul 13, 2019 (153)
25	ACPOP	ss3731281615	Jul 13, 2019 (153)
26	ACPOP	ss3731281616	Jul 13, 2019 (153)
27	PACBIO	ss3784759311	Jul 13, 2019 (153)
28	PACBIO	ss3790211088	Jul 13, 2019 (153)
29	PACBIO	ss3795086438	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3805119161	Jul 13, 2019 (153)
31	EVA	ss3828619651	Apr 26, 2020 (154)
32	EVA	ss3837751497	Apr 26, 2020 (154)
33	EVA	ss3843188926	Apr 26, 2020 (154)
34	GNOMAD	ss4113896531	Apr 26, 2021 (155)
35	GNOMAD	ss4113896532	Apr 26, 2021 (155)
36	GNOMAD	ss4113896535	Apr 26, 2021 (155)
37	GNOMAD	ss4113896536	Apr 26, 2021 (155)
38	GNOMAD	ss4113896537	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5166372840	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5166372841	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5166372842	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5166372843	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5166372844	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5259724965	Oct 17, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5259724966	Oct 17, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5259724967	Oct 17, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5259724968	Oct 17, 2022 (156)
48	HUGCELL_USP	ss5458426342	Oct 17, 2022 (156)
49	HUGCELL_USP	ss5458426343	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5458426344	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5458426345	Oct 17, 2022 (156)
52	TOMMO_GENOMICS	ss5700902177	Oct 17, 2022 (156)
53	TOMMO_GENOMICS	ss5700902178	Oct 17, 2022 (156)
54	TOMMO_GENOMICS	ss5700902179	Oct 17, 2022 (156)
55	TOMMO_GENOMICS	ss5700902180	Oct 17, 2022 (156)
56	TOMMO_GENOMICS	ss5700902181	Oct 17, 2022 (156)
57	EVA	ss5844199706	Oct 17, 2022 (156)
58	EVA	ss5844199707	Oct 17, 2022 (156)
59	EVA	ss5844199708	Oct 17, 2022 (156)
60	1000Genomes	NC_000004.11 - 76911428	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 12092763 (NC_000004.11:76911428:C: 1606/3854) Row 12092764 (NC_000004.11:76911427:CCC: 136/3854)	-	Oct 12, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 12092763 (NC_000004.11:76911428:C: 1606/3854) Row 12092764 (NC_000004.11:76911427:CCC: 136/3854)	-	Oct 12, 2018 (152)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 154108890 (NC_000004.12:75990274::C 3032/109910) Row 154108891 (NC_000004.12:75990274::CC 70/110224) Row 154108894 (NC_000004.12:75990274:C: 41133/109850)...	-	Apr 26, 2021 (155)
69	Northern Sweden Submission ignored due to conflicting rows: Row 4566480 (NC_000004.11:76911427:CC: 159/596) Row 4566481 (NC_000004.11:76911427:C: 217/596)	-	Jul 13, 2019 (153)
70	Northern Sweden Submission ignored due to conflicting rows: Row 4566480 (NC_000004.11:76911427:CC: 159/596) Row 4566481 (NC_000004.11:76911427:C: 217/596)	-	Jul 13, 2019 (153)
71	8.3KJPN Submission ignored due to conflicting rows: Row 24342147 (NC_000004.11:76911427:CC: 8554/16730) Row 24342148 (NC_000004.11:76911427:C: 6118/16730) Row 24342149 (NC_000004.11:76911427:CCC: 64/16730)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 24342147 (NC_000004.11:76911427:CC: 8554/16730) Row 24342148 (NC_000004.11:76911427:C: 6118/16730) Row 24342149 (NC_000004.11:76911427:CCC: 64/16730)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 24342147 (NC_000004.11:76911427:CC: 8554/16730) Row 24342148 (NC_000004.11:76911427:C: 6118/16730) Row 24342149 (NC_000004.11:76911427:CCC: 64/16730)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 24342147 (NC_000004.11:76911427:CC: 8554/16730) Row 24342148 (NC_000004.11:76911427:C: 6118/16730) Row 24342149 (NC_000004.11:76911427:CCC: 64/16730)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 24342147 (NC_000004.11:76911427:CC: 8554/16730) Row 24342148 (NC_000004.11:76911427:C: 6118/16730) Row 24342149 (NC_000004.11:76911427:CCC: 64/16730)...	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 34739281 (NC_000004.12:75990274:CC: 14291/28252) Row 34739282 (NC_000004.12:75990274:C: 10558/28252) Row 34739283 (NC_000004.12:75990274::C 750/28252)...	-	Oct 17, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 34739281 (NC_000004.12:75990274:CC: 14291/28252) Row 34739282 (NC_000004.12:75990274:C: 10558/28252) Row 34739283 (NC_000004.12:75990274::C 750/28252)...	-	Oct 17, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 34739281 (NC_000004.12:75990274:CC: 14291/28252) Row 34739282 (NC_000004.12:75990274:C: 10558/28252) Row 34739283 (NC_000004.12:75990274::C 750/28252)...	-	Oct 17, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 34739281 (NC_000004.12:75990274:CC: 14291/28252) Row 34739282 (NC_000004.12:75990274:C: 10558/28252) Row 34739283 (NC_000004.12:75990274::C 750/28252)...	-	Oct 17, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 34739281 (NC_000004.12:75990274:CC: 14291/28252) Row 34739282 (NC_000004.12:75990274:C: 10558/28252) Row 34739283 (NC_000004.12:75990274::C 750/28252)...	-	Oct 17, 2022 (156)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 12092762 (NC_000004.11:76911429:C: 1758/3708) Row 12092763 (NC_000004.11:76911428:CC: 1555/3708) Row 12092764 (NC_000004.11:76911427:CCC: 139/3708)	-	Apr 26, 2020 (154)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 12092763 (NC_000004.11:76911428:C: 1555/3708) Row 12092764 (NC_000004.11:76911427:CCC: 139/3708)	-	Oct 12, 2018 (152)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 12092763 (NC_000004.11:76911428:C: 1555/3708) Row 12092764 (NC_000004.11:76911427:CCC: 139/3708)	-	Oct 12, 2018 (152)
84	ALFA	NC_000004.12 - 75990275	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)
rs60071149	Oct 04, 2011 (135)
rs796951792	Nov 08, 2017 (151)
rs375742046	Apr 01, 2015 (144)
rs796403028	Sep 11, 2015 (146)
rs35326108	May 11, 2012 (137)
rs35725550	May 11, 2012 (137)
rs71657392	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4113896537	NC_000004.12:75990274:CCCC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCC	(self)
ss1704215531, ss1704215557, ss1801676682, ss3828619651, ss5166372842, ss5844199708	NC_000004.11:76911427:CCC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC	(self)
ss554098091	NC_000004.11:76911437:CCC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC	(self)
ss3712340398, ss4113896536, ss5259724967, ss5458426345, ss5700902180	NC_000004.12:75990274:CCC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC	(self)
11642066134	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC	(self)
ss288543220	NC_000004.10:77130451:CC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
21754468, ss666264653, ss1372338633, ss1536413401, ss1801676679, ss3731281615, ss5166372840, ss5844199706	NC_000004.11:76911427:CC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss1710153625, ss1710153626	NC_000004.11:76911428:CC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss3064108359, ss3805119161, ss4113896535, ss5259724966, ss5458426342, ss5700902177	NC_000004.12:75990274:CC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
11642066134	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss3712340397	NC_000004.12:75990275:CC:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss79991788	NC_000004.9:77268618:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss295172592	NC_000004.10:77130451:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss1801676677, ss3644157809, ss3731281616, ss3837751497, ss5166372841, ss5844199707	NC_000004.11:76911427:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
	NC_000004.11:76911428:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss1710153623, ss1710153624	NC_000004.11:76911429:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3843188926, ss5259724965, ss5458426343, ss5700902178	NC_000004.12:75990274:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
11642066134	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3712340396	NC_000004.12:75990276:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss98912274	NT_016354.19:1459148:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss42372978	NT_016354.19:1459159:C:	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3784759311, ss3790211088, ss3795086438, ss5166372843	NC_000004.11:76911427::C	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4113896531, ss5259724968, ss5458426344, ss5700902179	NC_000004.12:75990274::C	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
11642066134	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3712340395	NC_000004.12:75990277::C	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss5166372844	NC_000004.11:76911427::CC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss4113896532, ss5700902181	NC_000004.12:75990274::CC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
11642066134	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC	NC_000004.12:75990274:CCCCCCCCCCCC… NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC	(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 rs11294605

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

rs11294605