Name: rs3069388
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.

rs3069388

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:58359496-58359513 (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(T)₇ / del(T)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.1205 (1152/9560, ALFA)
delT=0.3962 (1984/5008, 1000G)
dupTT=0.3101 (1195/3854, ALSPAC) (+ 1 more)
dupTT=0.2891 (1072/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAB22A : 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	9560	TTTTTTTTTTTTTTTTTT=0.8729	TTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0048, TTTTTTTTTTTTTTTTTTT=0.0013, TTTTTTTTTTTTTTTTTTTT=0.1205, TTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.803053	0.043248	0.153699	32
European	Sub	7988	TTTTTTTTTTTTTTTTTT=0.8484	TTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0058, TTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTTT=0.1437, TTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.764437	0.051641	0.183923	32
African	Sub	1082	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	42	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1040	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	22	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	186	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	30	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	196	TTTTTTTTTTTTTTTTTT=0.980	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.020, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	0.969388	0.010204	0.020408	13

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	9560	(T)₁₈=0.8729	del(T)₇=0.0002, delTT=0.0000, delT=0.0048, dupT=0.0013, dupTT=0.1205, dupTTT=0.0003, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	7988	(T)₁₈=0.8484	del(T)₇=0.0003, delTT=0.0000, delT=0.0058, dupT=0.0015, dupTT=0.1437, dupTTT=0.0004, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	1082	(T)₁₈=1.0000	del(T)₇=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	Other	Sub	196	(T)₁₈=0.980	del(T)₇=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.020, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	186	(T)₁₈=1.000	del(T)₇=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	56	(T)₁₈=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(T)₁₈=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	22	(T)₁₈=1.00	del(T)₇=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₈=0.6038	delT=0.3962
1000Genomes	African	Sub	1322	(T)₁₈=0.5877	delT=0.4123
1000Genomes	East Asian	Sub	1008	(T)₁₈=0.6062	delT=0.3938
1000Genomes	Europe	Sub	1006	(T)₁₈=0.5895	delT=0.4105
1000Genomes	South Asian	Sub	978	(T)₁₈=0.637	delT=0.363
1000Genomes	American	Sub	694	(T)₁₈=0.605	delT=0.395
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupTT=0.3101
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupTT=0.2891

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 20	NC_000020.11:g.58359507_58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359509_58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359510_58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359511_58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359512_58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359513del
GRCh38.p14 chr 20	NC_000020.11:g.58359513dup
GRCh38.p14 chr 20	NC_000020.11:g.58359512_58359513dup
GRCh38.p14 chr 20	NC_000020.11:g.58359511_58359513dup
GRCh38.p14 chr 20	NC_000020.11:g.58359510_58359513dup
GRCh38.p14 chr 20	NC_000020.11:g.58359509_58359513dup
GRCh38.p14 chr 20	NC_000020.11:g.58359506_58359513dup
GRCh37.p13 chr 20	NC_000020.10:g.56934563_56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934565_56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934566_56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934567_56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934568_56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934569del
GRCh37.p13 chr 20	NC_000020.10:g.56934569dup
GRCh37.p13 chr 20	NC_000020.10:g.56934568_56934569dup
GRCh37.p13 chr 20	NC_000020.10:g.56934567_56934569dup
GRCh37.p13 chr 20	NC_000020.10:g.56934566_56934569dup
GRCh37.p13 chr 20	NC_000020.10:g.56934565_56934569dup
GRCh37.p13 chr 20	NC_000020.10:g.56934562_56934569dup

Gene: RAB22A, RAB22A, member RAS oncogene family (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAB22A transcript	NM_020673.3:c.488-99_488-… NM_020673.3:c.488-99_488-93del	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	(T)₁₈=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₈
GRCh38.p14 chr 20	NC_000020.11:g.58359496_58359513=	NC_000020.11:g.58359507_58359513del	NC_000020.11:g.58359509_58359513del	NC_000020.11:g.58359510_58359513del	NC_000020.11:g.58359511_58359513del	NC_000020.11:g.58359512_58359513del	NC_000020.11:g.58359513del	NC_000020.11:g.58359513dup	NC_000020.11:g.58359512_58359513dup	NC_000020.11:g.58359511_58359513dup	NC_000020.11:g.58359510_58359513dup	NC_000020.11:g.58359509_58359513dup	NC_000020.11:g.58359506_58359513dup
GRCh37.p13 chr 20	NC_000020.10:g.56934552_56934569=	NC_000020.10:g.56934563_56934569del	NC_000020.10:g.56934565_56934569del	NC_000020.10:g.56934566_56934569del	NC_000020.10:g.56934567_56934569del	NC_000020.10:g.56934568_56934569del	NC_000020.10:g.56934569del	NC_000020.10:g.56934569dup	NC_000020.10:g.56934568_56934569dup	NC_000020.10:g.56934567_56934569dup	NC_000020.10:g.56934566_56934569dup	NC_000020.10:g.56934565_56934569dup	NC_000020.10:g.56934562_56934569dup
RAB22A transcript	NM_020673.2:c.488-110=	NM_020673.2:c.488-99_488-93del	NM_020673.2:c.488-97_488-93del	NM_020673.2:c.488-96_488-93del	NM_020673.2:c.488-95_488-93del	NM_020673.2:c.488-94_488-93del	NM_020673.2:c.488-93del	NM_020673.2:c.488-93dup	NM_020673.2:c.488-94_488-93dup	NM_020673.2:c.488-95_488-93dup	NM_020673.2:c.488-96_488-93dup	NM_020673.2:c.488-97_488-93dup	NM_020673.2:c.488-100_488-93dup
RAB22A transcript	NM_020673.3:c.488-110=	NM_020673.3:c.488-99_488-93del	NM_020673.3:c.488-97_488-93del	NM_020673.3:c.488-96_488-93del	NM_020673.3:c.488-95_488-93del	NM_020673.3:c.488-94_488-93del	NM_020673.3:c.488-93del	NM_020673.3:c.488-93dup	NM_020673.3:c.488-94_488-93dup	NM_020673.3:c.488-95_488-93dup	NM_020673.3:c.488-96_488-93dup	NM_020673.3:c.488-97_488-93dup	NM_020673.3:c.488-100_488-93dup
RAB22A transcript variant X1	XM_005260469.1:c.416-110=	XM_005260469.1:c.416-99_416-93del	XM_005260469.1:c.416-97_416-93del	XM_005260469.1:c.416-96_416-93del	XM_005260469.1:c.416-95_416-93del	XM_005260469.1:c.416-94_416-93del	XM_005260469.1:c.416-93del	XM_005260469.1:c.416-93dup	XM_005260469.1:c.416-94_416-93dup	XM_005260469.1:c.416-95_416-93dup	XM_005260469.1:c.416-96_416-93dup	XM_005260469.1:c.416-97_416-93dup	XM_005260469.1:c.416-100_416-93dup

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#.

63 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4300753	Jan 05, 2002 (102)
2	ABI	ss41373898	Mar 14, 2006 (126)
3	DEVINE_LAB	ss49912064	Mar 15, 2016 (147)
4	BCMHGSC_JDW	ss103652781	Mar 15, 2016 (147)
5	GMI	ss289418784	May 04, 2012 (137)
6	SSMP	ss664485695	Apr 01, 2015 (144)
7	SSIP	ss947406612	Aug 21, 2014 (142)
8	1000GENOMES	ss1378553854	Aug 21, 2014 (142)
9	EVA_UK10K_ALSPAC	ss1709411885	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1709412138	Apr 01, 2015 (144)
11	TMC_SNPDB	ss1997139627	Jul 19, 2016 (147)
12	SWEGEN	ss3018405740	Nov 08, 2017 (151)
13	EVA_DECODE	ss3707224641	Jul 13, 2019 (153)
14	EVA_DECODE	ss3707224642	Jul 13, 2019 (153)
15	EVA_DECODE	ss3707224643	Jul 13, 2019 (153)
16	EVA_DECODE	ss3707224644	Jul 13, 2019 (153)
17	EVA_DECODE	ss3707224645	Jul 13, 2019 (153)
18	EVA_DECODE	ss3707224646	Jul 13, 2019 (153)
19	ACPOP	ss3743513967	Jul 13, 2019 (153)
20	ACPOP	ss3743513968	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3821971291	Jul 13, 2019 (153)
22	EVA	ss3835743068	Apr 27, 2020 (154)
23	KOGIC	ss3982559490	Apr 27, 2020 (154)
24	KOGIC	ss3982559491	Apr 27, 2020 (154)
25	KOGIC	ss3982559492	Apr 27, 2020 (154)
26	KOGIC	ss3982559493	Apr 27, 2020 (154)
27	KOGIC	ss3982559494	Apr 27, 2020 (154)
28	FSA-LAB	ss3984219708	Apr 26, 2021 (155)
29	GNOMAD	ss4355760798	Apr 26, 2021 (155)
30	GNOMAD	ss4355760799	Apr 26, 2021 (155)
31	GNOMAD	ss4355760800	Apr 26, 2021 (155)
32	GNOMAD	ss4355760801	Apr 26, 2021 (155)
33	GNOMAD	ss4355760802	Apr 26, 2021 (155)
34	GNOMAD	ss4355760803	Apr 26, 2021 (155)
35	GNOMAD	ss4355760804	Apr 26, 2021 (155)
36	GNOMAD	ss4355760805	Apr 26, 2021 (155)
37	GNOMAD	ss4355760806	Apr 26, 2021 (155)
38	GNOMAD	ss4355760807	Apr 26, 2021 (155)
39	GNOMAD	ss4355760808	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5230274496	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5230274497	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5230274498	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5230274499	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5230274500	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5309286134	Oct 13, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5309286135	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5309286136	Oct 13, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5309286137	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5309286138	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5309286139	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5501519236	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5501519237	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5501519238	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5501519239	Oct 13, 2022 (156)
55	EVA	ss5624115097	Oct 13, 2022 (156)
56	EVA	ss5624115098	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5790270208	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5790270209	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5790270210	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5790270211	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5790270212	Oct 13, 2022 (156)
62	EVA	ss5845883539	Oct 13, 2022 (156)
63	EVA	ss5958416045	Oct 13, 2022 (156)
64	1000Genomes	NC_000020.10 - 56934552	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 56934552	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 555781886 (NC_000020.11:58359495::T 2044/127514) Row 555781887 (NC_000020.11:58359495::TT 37545/127258) Row 555781888 (NC_000020.11:58359495::TTT 430/127510)...	-	Apr 26, 2021 (155)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 38937491 (NC_000020.11:58359497::T 159/1832) Row 38937492 (NC_000020.11:58359496:T: 227/1832) Row 38937493 (NC_000020.11:58359495:TT: 17/1832)...	-	Apr 27, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 38937491 (NC_000020.11:58359497::T 159/1832) Row 38937492 (NC_000020.11:58359496:T: 227/1832) Row 38937493 (NC_000020.11:58359495:TT: 17/1832)...	-	Apr 27, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 38937491 (NC_000020.11:58359497::T 159/1832) Row 38937492 (NC_000020.11:58359496:T: 227/1832) Row 38937493 (NC_000020.11:58359495:TT: 17/1832)...	-	Apr 27, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 38937491 (NC_000020.11:58359497::T 159/1832) Row 38937492 (NC_000020.11:58359496:T: 227/1832) Row 38937493 (NC_000020.11:58359495:TT: 17/1832)...	-	Apr 27, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 38937491 (NC_000020.11:58359497::T 159/1832) Row 38937492 (NC_000020.11:58359496:T: 227/1832) Row 38937493 (NC_000020.11:58359495:TT: 17/1832)...	-	Apr 27, 2020 (154)
82	Northern Sweden Submission ignored due to conflicting rows: Row 16798832 (NC_000020.10:56934551::TT 162/598) Row 16798833 (NC_000020.10:56934551:T: 5/598)	-	Jul 13, 2019 (153)
83	Northern Sweden Submission ignored due to conflicting rows: Row 16798832 (NC_000020.10:56934551::TT 162/598) Row 16798833 (NC_000020.10:56934551:T: 5/598)	-	Jul 13, 2019 (153)
84	8.3KJPN Submission ignored due to conflicting rows: Row 88243803 (NC_000020.10:56934551::TT 5613/16742) Row 88243804 (NC_000020.10:56934551::TTT 18/16742) Row 88243805 (NC_000020.10:56934551::T 34/16742)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 88243803 (NC_000020.10:56934551::TT 5613/16742) Row 88243804 (NC_000020.10:56934551::TTT 18/16742) Row 88243805 (NC_000020.10:56934551::T 34/16742)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 88243803 (NC_000020.10:56934551::TT 5613/16742) Row 88243804 (NC_000020.10:56934551::TTT 18/16742) Row 88243805 (NC_000020.10:56934551::T 34/16742)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 88243803 (NC_000020.10:56934551::TT 5613/16742) Row 88243804 (NC_000020.10:56934551::TTT 18/16742) Row 88243805 (NC_000020.10:56934551::T 34/16742)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 88243803 (NC_000020.10:56934551::TT 5613/16742) Row 88243804 (NC_000020.10:56934551::TTT 18/16742) Row 88243805 (NC_000020.10:56934551::T 34/16742)...	-	Apr 26, 2021 (155)
89	14KJPN Submission ignored due to conflicting rows: Row 124107312 (NC_000020.11:58359495:T: 209/28258) Row 124107313 (NC_000020.11:58359495::TT 9659/28258) Row 124107314 (NC_000020.11:58359495:TT: 46/28258)...	-	Oct 13, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 124107312 (NC_000020.11:58359495:T: 209/28258) Row 124107313 (NC_000020.11:58359495::TT 9659/28258) Row 124107314 (NC_000020.11:58359495:TT: 46/28258)...	-	Oct 13, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 124107312 (NC_000020.11:58359495:T: 209/28258) Row 124107313 (NC_000020.11:58359495::TT 9659/28258) Row 124107314 (NC_000020.11:58359495:TT: 46/28258)...	-	Oct 13, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 124107312 (NC_000020.11:58359495:T: 209/28258) Row 124107313 (NC_000020.11:58359495::TT 9659/28258) Row 124107314 (NC_000020.11:58359495:TT: 46/28258)...	-	Oct 13, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 124107312 (NC_000020.11:58359495:T: 209/28258) Row 124107313 (NC_000020.11:58359495::TT 9659/28258) Row 124107314 (NC_000020.11:58359495:TT: 46/28258)...	-	Oct 13, 2022 (156)
94	UK 10K study - Twins	NC_000020.10 - 56934552	Oct 12, 2018 (152)
95	ALFA	NC_000020.11 - 58359496	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)
rs200700256	May 11, 2012 (137)
rs11484297	May 11, 2012 (137)
rs33925119	May 11, 2012 (137)
rs34858362	May 11, 2012 (137)
rs72295179	May 11, 2012 (137)
rs375498933	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4355760808, ss5309286138	NC_000020.11:58359495:TTTTTTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4355760807	NC_000020.11:58359495:TTTTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4355760806	NC_000020.11:58359495:TTTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss103652781	NT_011362.10:27130657:TTTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3984219708	NC_000020.10:56934551:TTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4355760805	NC_000020.11:58359495:TTT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5230274499	NC_000020.10:56934551:TT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3707224641, ss3982559492, ss4355760804, ss5309286139, ss5790270210	NC_000020.11:58359495:TT:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss289418784	NC_000020.9:56367957:T:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
78801324, ss1378553854, ss3018405740, ss3743513968, ss5230274500, ss5624115098	NC_000020.10:56934551:T:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3821971291, ss4355760803, ss5309286136, ss5501519237, ss5790270208	NC_000020.11:58359495:T:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3707224642, ss3982559491	NC_000020.11:58359496:T:	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1997139627, ss5230274498, ss5624115097	NC_000020.10:56934551::T	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4355760798, ss5309286135, ss5501519236, ss5790270211	NC_000020.11:58359495::T	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3707224643, ss3982559490	NC_000020.11:58359497::T	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
43631634, 43631634, ss664485695, ss1709411885, ss1709412138, ss3743513967, ss3835743068, ss5230274496, ss5845883539, ss5958416045	NC_000020.10:56934551::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss947406612	NC_000020.10:56934552::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4355760799, ss5309286134, ss5501519238, ss5790270209	NC_000020.11:58359495::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3707224644, ss3982559493	NC_000020.11:58359497::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss49912064	NT_011362.10:27130644::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4300753, ss41373898	NT_011362.10:27130661::TT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5230274497	NC_000020.10:56934551::TTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4355760800, ss5309286137, ss5501519239, ss5790270212	NC_000020.11:58359495::TTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3707224645, ss3982559494	NC_000020.11:58359497::TTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4355760801	NC_000020.11:58359495::TTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
302654816	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4355760802	NC_000020.11:58359495::TTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3707224646	NC_000020.11:58359497::TTTTTTTT	NC_000020.11:58359495:TTTTTTTTTTTT… NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs3069388

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

rs3069388