Name: rs55994916
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.

rs55994916

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:12910326-12910344 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₀ / del(A)₉ / del(A)₅ / del…
del(A)₁₀ / del(A)₉ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₉ / dup(A)₁₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.0000 (0/4440, ALFA)
del(A)₉=0.0000 (0/4440, ALFA)
del(A)₄=0.0000 (0/4440, ALFA) (+ 7 more)
delAAA=0.0000 (0/4440, ALFA)
delAA=0.0000 (0/4440, ALFA)
delA=0.0000 (0/4440, ALFA)
dupA=0.0000 (0/4440, ALFA)
dupAA=0.0000 (0/4440, ALFA)
dupAAA=0.0000 (0/4440, ALFA)
dup(A)₄=0.0000 (0/4440, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC01722 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	4440	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2842	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1190	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	54	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1136	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	40	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	28	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	60	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	110	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	32	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	166	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	4440	(A)₁₉=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, 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)₄=0.0000
Allele Frequency Aggregator	European	Sub	2842	(A)₁₉=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, 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)₄=0.0000
Allele Frequency Aggregator	African	Sub	1190	(A)₁₉=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, 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)₄=0.0000
Allele Frequency Aggregator	Other	Sub	166	(A)₁₉=1.000	del(A)₁₀=0.000, del(A)₉=0.000, 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)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	110	(A)₁₉=1.000	del(A)₁₀=0.000, del(A)₉=0.000, 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)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	60	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₉=0.00, 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)₄=0.00
Allele Frequency Aggregator	Asian	Sub	40	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₉=0.00, 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)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₉=0.00, 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)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 20	NC_000020.11:g.12910335_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910336_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910340_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910341_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910342_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910343_12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910344del
GRCh38.p14 chr 20	NC_000020.11:g.12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910343_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910342_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910341_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910340_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910339_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910338_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910336_12910344dup
GRCh38.p14 chr 20	NC_000020.11:g.12910328_12910344dup
GRCh37.p13 chr 20	NC_000020.10:g.12890983_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890984_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890988_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890989_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890990_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890991_12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890992del
GRCh37.p13 chr 20	NC_000020.10:g.12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890991_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890990_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890989_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890988_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890987_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890986_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890984_12890992dup
GRCh37.p13 chr 20	NC_000020.10:g.12890976_12890992dup

Gene: LINC01722, long intergenic non-protein coding RNA 1722 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01722 transcript	NR_109868.1: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	(A)₁₉=	del(A)₁₀	del(A)₉	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₉	dup(A)₁₇
GRCh38.p14 chr 20	NC_000020.11:g.12910326_12910344=	NC_000020.11:g.12910335_12910344del	NC_000020.11:g.12910336_12910344del	NC_000020.11:g.12910340_12910344del	NC_000020.11:g.12910341_12910344del	NC_000020.11:g.12910342_12910344del	NC_000020.11:g.12910343_12910344del	NC_000020.11:g.12910344del	NC_000020.11:g.12910344dup	NC_000020.11:g.12910343_12910344dup	NC_000020.11:g.12910342_12910344dup	NC_000020.11:g.12910341_12910344dup	NC_000020.11:g.12910340_12910344dup	NC_000020.11:g.12910339_12910344dup	NC_000020.11:g.12910338_12910344dup	NC_000020.11:g.12910336_12910344dup	NC_000020.11:g.12910328_12910344dup
GRCh37.p13 chr 20	NC_000020.10:g.12890974_12890992=	NC_000020.10:g.12890983_12890992del	NC_000020.10:g.12890984_12890992del	NC_000020.10:g.12890988_12890992del	NC_000020.10:g.12890989_12890992del	NC_000020.10:g.12890990_12890992del	NC_000020.10:g.12890991_12890992del	NC_000020.10:g.12890992del	NC_000020.10:g.12890992dup	NC_000020.10:g.12890991_12890992dup	NC_000020.10:g.12890990_12890992dup	NC_000020.10:g.12890989_12890992dup	NC_000020.10:g.12890988_12890992dup	NC_000020.10:g.12890987_12890992dup	NC_000020.10:g.12890986_12890992dup	NC_000020.10:g.12890984_12890992dup	NC_000020.10:g.12890976_12890992dup

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#.

58 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77840316	Dec 06, 2007 (129)
2	HUMANGENOME_JCVI	ss95736277	Feb 13, 2009 (130)
3	HUMANGENOME_JCVI	ss96243402	Feb 16, 2009 (130)
4	GMI	ss289402727	May 04, 2012 (137)
5	TISHKOFF	ss554975488	Apr 25, 2013 (138)
6	SSMP	ss664462104	Apr 01, 2015 (144)
7	SSIP	ss947400487	Aug 21, 2014 (142)
8	HAMMER_LAB	ss1809431023	Sep 08, 2015 (146)
9	URBANLAB	ss3650975427	Oct 12, 2018 (152)
10	EVA_DECODE	ss3706596377	Jul 13, 2019 (153)
11	EVA_DECODE	ss3706596378	Jul 13, 2019 (153)
12	EVA_DECODE	ss3706596379	Jul 13, 2019 (153)
13	EVA_DECODE	ss3706596380	Jul 13, 2019 (153)
14	EVA_DECODE	ss3706596381	Jul 13, 2019 (153)
15	EVA_DECODE	ss3706596382	Jul 13, 2019 (153)
16	PACBIO	ss3793504333	Jul 13, 2019 (153)
17	PACBIO	ss3798391487	Jul 13, 2019 (153)
18	EVA	ss3835598151	Apr 27, 2020 (154)
19	GNOMAD	ss4335389188	Apr 26, 2021 (155)
20	GNOMAD	ss4335389189	Apr 26, 2021 (155)
21	GNOMAD	ss4335389190	Apr 26, 2021 (155)
22	GNOMAD	ss4335389191	Apr 26, 2021 (155)
23	GNOMAD	ss4335389192	Apr 26, 2021 (155)
24	GNOMAD	ss4335389193	Apr 26, 2021 (155)
25	GNOMAD	ss4335389194	Apr 26, 2021 (155)
26	GNOMAD	ss4335389195	Apr 26, 2021 (155)
27	GNOMAD	ss4335389196	Apr 26, 2021 (155)
28	GNOMAD	ss4335389197	Apr 26, 2021 (155)
29	GNOMAD	ss4335389198	Apr 26, 2021 (155)
30	GNOMAD	ss4335389199	Apr 26, 2021 (155)
31	GNOMAD	ss4335389200	Apr 26, 2021 (155)
32	GNOMAD	ss4335389201	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5228922994	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5228922995	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5228922996	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5228922997	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5228922998	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5228922999	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5308150855	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5308150856	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5308150857	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5308150858	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5308150859	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5308150860	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5500544867	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5500544868	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5500544869	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5500544870	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5500544871	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5500544872	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5787933266	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5787933267	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5787933268	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5787933269	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5787933270	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5787933271	Oct 13, 2022 (156)
57	EVA	ss5845470680	Oct 13, 2022 (156)
58	EVA	ss5922751134	Oct 13, 2022 (156)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547021786 (NC_000020.11:12910325::A 31050/103444) Row 547021787 (NC_000020.11:12910325::AA 462/103646) Row 547021788 (NC_000020.11:12910325::AAA 148/103652)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 86892301 (NC_000020.10:12890973::A 4011/16736) Row 86892302 (NC_000020.10:12890973:AAA: 2795/16736) Row 86892303 (NC_000020.10:12890973:A: 215/16736)...	-	Apr 26, 2021 (155)
80	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 121770370 (NC_000020.11:12910325::A 7267/28258) Row 121770371 (NC_000020.11:12910325:AAA: 4822/28258) Row 121770372 (NC_000020.11:12910325:A: 360/28258)...	-	Oct 13, 2022 (156)
86	ALFA	NC_000020.11 - 12910326	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)
rs368788027	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss554975488	NC_000020.10:12890982:AAAAAAAAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4335389201, ss5922751134	NC_000020.11:12910325:AAAAAAAAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4335389200, ss5308150858, ss5500544872	NC_000020.11:12910325:AAAAAAAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4335389199	NC_000020.11:12910325:AAAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5228922998	NC_000020.10:12890973:AAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4335389198, ss5787933269	NC_000020.11:12910325:AAAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss289402727	NC_000020.9:12838973:AAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss77840316	NC_000020.9:12838989:AAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5228922995, ss5845470680	NC_000020.10:12890973:AAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3706596382, ss4335389197, ss5308150859, ss5500544871, ss5787933267	NC_000020.11:12910325:AAA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5228922997	NC_000020.10:12890973:AA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4335389196, ss5308150857, ss5500544869, ss5787933271	NC_000020.11:12910325:AA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3706596381	NC_000020.11:12910326:AA:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1809431023, ss5228922996	NC_000020.10:12890973:A:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3650975427, ss5308150856, ss5500544867, ss5787933268	NC_000020.11:12910325:A:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3706596380	NC_000020.11:12910327:A:	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss664462104, ss3793504333, ss3798391487, ss3835598151, ss5228922994	NC_000020.10:12890973::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss947400487	NC_000020.10:12890974::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4335389188, ss5308150855, ss5500544868, ss5787933266	NC_000020.11:12910325::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3706596379	NC_000020.11:12910328::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss96243402	NT_011387.8:12830973::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95736277	NT_011387.8:12830992::A	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5228922999	NC_000020.10:12890973::AA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389189, ss5308150860, ss5500544870, ss5787933270	NC_000020.11:12910325::AA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3706596378	NC_000020.11:12910328::AA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389190	NC_000020.11:12910325::AAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389191	NC_000020.11:12910325::AAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7635028302	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389192	NC_000020.11:12910325::AAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389193	NC_000020.11:12910325::AAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389194	NC_000020.11:12910325::AAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706596377	NC_000020.11:12910328::AAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335389195	NC_000020.11:12910325::AAAAAAAAAAA… NC_000020.11:12910325::AAAAAAAAAAAAAAAAA	NC_000020.11:12910325:AAAAAAAAAAAA… NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs55994916

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

rs55994916