Name: rs34360055
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.

rs34360055

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:32741159-32741167 (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: delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.421070 (111453/264690, TOPMED)
dupA=0.1457 (1377/9452, ALFA)
dupA=0.4375 (2191/5008, 1000G) (+ 1 more)
dupA=0.296 (173/584, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COMMD7 : 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	9452	AAAAAAAAA=0.7622	AAAAAAA=0.0000, AAAAAAAA=0.0921, AAAAAAAAAA=0.1457	0.773735	0.069767	0.156498	32
European	Sub	8052	AAAAAAAAA=0.7276	AAAAAAA=0.0000, AAAAAAAA=0.1017, AAAAAAAAAA=0.1706	0.724967	0.085113	0.18992	32
African	Sub	730	AAAAAAAAA=0.945	AAAAAAA=0.000, AAAAAAAA=0.055, AAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	AAAAAAAAA=0.90	AAAAAAA=0.00, AAAAAAAA=0.10, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	700	AAAAAAAAA=0.947	AAAAAAA=0.000, AAAAAAAA=0.053, AAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	46	AAAAAAAAA=0.93	AAAAAAA=0.00, AAAAAAAA=0.07, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	30	AAAAAAAAA=0.93	AAAAAAA=0.00, AAAAAAAA=0.07, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	AAAAAAAAA=0.94	AAAAAAA=0.00, AAAAAAAA=0.06, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	50	AAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	360	AAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	AAAAAAAAA=0.94	AAAAAAA=0.00, AAAAAAAA=0.06, AAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	180	AAAAAAAAA=0.944	AAAAAAA=0.000, AAAAAAAA=0.039, AAAAAAAAAA=0.017	0.964286	0.0	0.035714	0

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
TopMed	Global	Study-wide	264690	(A)₉=0.578930	delA=0.421070
Allele Frequency Aggregator	Total	Global	9452	(A)₉=0.7622	delAA=0.0000, delA=0.0921, dupA=0.1457
Allele Frequency Aggregator	European	Sub	8052	(A)₉=0.7276	delAA=0.0000, delA=0.1017, dupA=0.1706
Allele Frequency Aggregator	African	Sub	730	(A)₉=0.945	delAA=0.000, delA=0.055, dupA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	360	(A)₉=1.000	delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	180	(A)₉=0.944	delAA=0.000, delA=0.039, dupA=0.017
Allele Frequency Aggregator	Latin American 1	Sub	50	(A)₉=1.00	delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	46	(A)₉=0.93	delAA=0.00, delA=0.07, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	34	(A)₉=0.94	delAA=0.00, delA=0.06, dupA=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.4375
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.3654
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.5804
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.3300
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.398
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.579
Northern Sweden	ACPOP	Study-wide	584	- No frequency provided	dupA=0.296

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.32741166_32741167del
GRCh38.p14 chr 20	NC_000020.11:g.32741167del
GRCh38.p14 chr 20	NC_000020.11:g.32741167dup
GRCh38.p14 chr 20	NC_000020.11:g.32741166_32741167dup
GRCh37.p13 chr 20	NC_000020.10:g.31328972dup
GRCh37.p13 chr 20	NC_000020.10:g.31328972del
GRCh37.p13 chr 20	NC_000020.10:g.31328971_31328972dup
GRCh37.p13 chr 20	NC_000020.10:g.31328970_31328972dup

Gene: COMMD7, COMM domain containing 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COMMD7 transcript variant 2	NM_001099339.2:c.84+2148_… NM_001099339.2:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant 1	NM_053041.3:c.84+2148_84+… NM_053041.3:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X1	XM_005260299.5:c.84+2148_… XM_005260299.5:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X2	XM_005260300.5:c.84+2148_… XM_005260300.5:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X3	XM_011528604.4:c.84+2148_… XM_011528604.4:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X4	XM_017027685.3:c.84+2148_… XM_017027685.3:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X5	XM_017027686.3:c.84+2148_… XM_017027686.3:c.84+2148_84+2149del	N/A	Intron Variant
COMMD7 transcript variant X6	XM_047439932.1:c.84+2148_… XM_047439932.1:c.84+2148_84+2149del	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)₉=	delAA	delA	dupA	dupAA
GRCh38.p14 chr 20	NC_000020.11:g.32741159_32741167=	NC_000020.11:g.32741166_32741167del	NC_000020.11:g.32741167del	NC_000020.11:g.32741167dup	NC_000020.11:g.32741166_32741167dup
GRCh37.p13 chr 20	NC_000020.10:g.31328972dup	NC_000020.10:g.31328972del	NC_000020.10:g.31328965_31328972=	NC_000020.10:g.31328971_31328972dup	NC_000020.10:g.31328970_31328972dup
COMMD7 transcript variant 2	NM_001099339.1:c.84+2149dup	NM_001099339.1:c.84+2149del	NM_001099339.1:c.84+2149=	NM_001099339.1:c.84+2148_84+2149dup	NM_001099339.1:c.84+2147_84+2149dup
COMMD7 transcript variant 2	NM_001099339.2:c.84+2149=	NM_001099339.2:c.84+2148_84+2149del	NM_001099339.2:c.84+2149del	NM_001099339.2:c.84+2149dup	NM_001099339.2:c.84+2148_84+2149dup
COMMD7 transcript variant 1	NM_053041.2:c.84+2149dup	NM_053041.2:c.84+2149del	NM_053041.2:c.84+2149=	NM_053041.2:c.84+2148_84+2149dup	NM_053041.2:c.84+2147_84+2149dup
COMMD7 transcript variant 1	NM_053041.3:c.84+2149=	NM_053041.3:c.84+2148_84+2149del	NM_053041.3:c.84+2149del	NM_053041.3:c.84+2149dup	NM_053041.3:c.84+2148_84+2149dup
COMMD7 transcript variant X1	XM_005260299.1:c.84+2149dup	XM_005260299.1:c.84+2149del	XM_005260299.1:c.84+2149=	XM_005260299.1:c.84+2148_84+2149dup	XM_005260299.1:c.84+2147_84+2149dup
COMMD7 transcript variant X1	XM_005260299.5:c.84+2149=	XM_005260299.5:c.84+2148_84+2149del	XM_005260299.5:c.84+2149del	XM_005260299.5:c.84+2149dup	XM_005260299.5:c.84+2148_84+2149dup
COMMD7 transcript variant X2	XM_005260300.1:c.84+2149dup	XM_005260300.1:c.84+2149del	XM_005260300.1:c.84+2149=	XM_005260300.1:c.84+2148_84+2149dup	XM_005260300.1:c.84+2147_84+2149dup
COMMD7 transcript variant X2	XM_005260300.5:c.84+2149=	XM_005260300.5:c.84+2148_84+2149del	XM_005260300.5:c.84+2149del	XM_005260300.5:c.84+2149dup	XM_005260300.5:c.84+2148_84+2149dup
COMMD7 transcript variant X3	XM_011528604.4:c.84+2149=	XM_011528604.4:c.84+2148_84+2149del	XM_011528604.4:c.84+2149del	XM_011528604.4:c.84+2149dup	XM_011528604.4:c.84+2148_84+2149dup
COMMD7 transcript variant X4	XM_017027685.3:c.84+2149=	XM_017027685.3:c.84+2148_84+2149del	XM_017027685.3:c.84+2149del	XM_017027685.3:c.84+2149dup	XM_017027685.3:c.84+2148_84+2149dup
COMMD7 transcript variant X5	XM_017027686.3:c.84+2149=	XM_017027686.3:c.84+2148_84+2149del	XM_017027686.3:c.84+2149del	XM_017027686.3:c.84+2149dup	XM_017027686.3:c.84+2148_84+2149dup
COMMD7 transcript variant X6	XM_047439932.1:c.84+2149=	XM_047439932.1:c.84+2148_84+2149del	XM_047439932.1:c.84+2149del	XM_047439932.1:c.84+2149dup	XM_047439932.1:c.84+2148_84+2149dup

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#.

40 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41440361	Oct 12, 2018 (152)
2	HGSV	ss77917504	Oct 12, 2018 (152)
3	GMI	ss289409091	May 04, 2012 (137)
4	PJP	ss295045730	May 09, 2011 (137)
5	1000GENOMES	ss327941893	May 09, 2011 (138)
6	1000GENOMES	ss328294673	May 09, 2011 (138)
7	LUNTER	ss552659090	Apr 25, 2013 (138)
8	LUNTER	ss553060034	Apr 25, 2013 (138)
9	LUNTER	ss553677853	Apr 25, 2013 (138)
10	SSMP	ss664471064	Apr 09, 2015 (144)
11	BILGI_BIOE	ss666745124	Apr 25, 2013 (138)
12	1000GENOMES	ss1378468345	Aug 28, 2014 (142)
13	HAMMER_LAB	ss1809481687	Sep 11, 2015 (146)
14	SYSTEMSBIOZJU	ss2629432012	Oct 12, 2018 (152)
15	SWEGEN	ss3018111127	Oct 12, 2018 (152)
16	SWEGEN	ss3018111129	Oct 12, 2018 (152)
17	BEROUKHIMLAB	ss3644445782	Oct 12, 2018 (152)
18	BIOINF_KMB_FNS_UNIBA	ss3645643232	Oct 12, 2018 (152)
19	URBANLAB	ss3651012581	Oct 12, 2018 (152)
20	EVA_DECODE	ss3706854686	Jul 13, 2019 (153)
21	EVA_DECODE	ss3706854687	Jul 13, 2019 (153)
22	EVA_DECODE	ss3706854688	Jul 13, 2019 (153)
23	ACPOP	ss3743357342	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3821755247	Jul 13, 2019 (153)
25	EVA	ss3835652156	Apr 27, 2020 (154)
26	KOGIC	ss3982184529	Apr 27, 2020 (154)
27	KOGIC	ss3982184530	Apr 27, 2020 (154)
28	GNOMAD	ss4352572386	Apr 26, 2021 (155)
29	GNOMAD	ss4352572387	Apr 26, 2021 (155)
30	GNOMAD	ss4352572388	Apr 26, 2021 (155)
31	TOPMED	ss5086958679	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5229428355	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5229428356	Apr 26, 2021 (155)
34	HUGCELL_USP	ss5500927906	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5500927908	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5789157712	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5789157713	Oct 16, 2022 (156)
38	EVA	ss5845632295	Oct 16, 2022 (156)
39	EVA	ss5845632296	Oct 16, 2022 (156)
40	EVA	ss5853123445	Oct 16, 2022 (156)
41	1000Genomes	NC_000020.10 - 31328965	Oct 12, 2018 (152)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550478566 (NC_000020.11:32741158::A 115/137616) Row 550478567 (NC_000020.11:32741158:A: 60344/137538) Row 550478568 (NC_000020.11:32741158:AA: 1/137616)	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550478566 (NC_000020.11:32741158::A 115/137616) Row 550478567 (NC_000020.11:32741158:A: 60344/137538) Row 550478568 (NC_000020.11:32741158:AA: 1/137616)	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550478566 (NC_000020.11:32741158::A 115/137616) Row 550478567 (NC_000020.11:32741158:A: 60344/137538) Row 550478568 (NC_000020.11:32741158:AA: 1/137616)	-	Apr 26, 2021 (155)
45	Korean Genome Project Submission ignored due to conflicting rows: Row 38562530 (NC_000020.11:32741158:A: 711/1832) Row 38562531 (NC_000020.11:32741159::A 1/1832)	-	Apr 27, 2020 (154)
46	Korean Genome Project Submission ignored due to conflicting rows: Row 38562530 (NC_000020.11:32741158:A: 711/1832) Row 38562531 (NC_000020.11:32741159::A 1/1832)	-	Apr 27, 2020 (154)
47	Northern Sweden	NC_000020.10 - 31328965	Jul 13, 2019 (153)
48	8.3KJPN Submission ignored due to conflicting rows: Row 87397662 (NC_000020.10:31328964::A 9756/16738) Row 87397663 (NC_000020.10:31328964::AA 202/16738)	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 87397662 (NC_000020.10:31328964::A 9756/16738) Row 87397663 (NC_000020.10:31328964::AA 202/16738)	-	Apr 26, 2021 (155)
50	14KJPN Submission ignored due to conflicting rows: Row 122994816 (NC_000020.11:32741158:A: 9384/28238) Row 122994817 (NC_000020.11:32741158::A 333/28238)	-	Oct 16, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 122994816 (NC_000020.11:32741158:A: 9384/28238) Row 122994817 (NC_000020.11:32741158::A 333/28238)	-	Oct 16, 2022 (156)
52	TopMed	NC_000020.11 - 32741159	Apr 26, 2021 (155)
53	ALFA	NC_000020.11 - 32741159	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)
rs142403606	May 11, 2012 (137)
rs142509633	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4352572388	NC_000020.11:32741158:AA:	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAA	(self)
12822990064	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAA	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAA	(self)
362067624, ss3645643232, ss3651012581, ss3706854688, ss3982184529, ss4352572387, ss5086958679, ss5500927906, ss5789157712, ss5853123445	NC_000020.11:32741158:A:	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAA	(self)
12822990064	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAA	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAA	(self)
ss327941893, ss328294673, ss552659090, ss553060034, ss553677853	NC_000020.9:30792625::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss295045730	NC_000020.9:30792632::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss289409091	NC_000020.9:30792633::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
78041384, 16642207, ss664471064, ss666745124, ss1378468345, ss1809481687, ss2629432012, ss3018111127, ss3644445782, ss3743357342, ss3835652156, ss5229428355, ss5845632295	NC_000020.10:31328964::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss3821755247, ss4352572386, ss5500927908, ss5789157713	NC_000020.11:32741158::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
12822990064	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss3706854687, ss3982184530	NC_000020.11:32741159::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss41440361, ss77917504	NT_011362.10:1525064::A	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA	(self)
ss3018111129, ss5229428356, ss5845632296	NC_000020.10:31328964::AA	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAAA	(self)
ss3706854686	NC_000020.11:32741159::AA	NC_000020.11:32741158:AAAAAAAAA:AA… NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAAA	(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 rs34360055

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

rs34360055