Name: rs60126911
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.

rs60126911

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:212369026-212369040 (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)₆ / del(A)₅ / del(A)₄ / delA…
del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₆=0.000008 (2/264690, TOPMED)
dupA=0.1687 (845/5008, 1000G)
del(A)₆=0.0000 (0/1830, ALFA) (+ 9 more)
del(A)₅=0.0000 (0/1830, ALFA)
del(A)₄=0.0000 (0/1830, ALFA)
delAAA=0.0000 (0/1830, ALFA)
delAA=0.0000 (0/1830, ALFA)
delA=0.0000 (0/1830, ALFA)
dupA=0.0000 (0/1830, ALFA)
dupAA=0.0000 (0/1830, ALFA)
dupAAA=0.0000 (0/1830, ALFA)
dup(A)₄=0.0000 (0/1830, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PACC1 : 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	1830	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	506	AAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African	Sub	1176	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	54	AAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1122	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	6	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	26	AAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	34	AAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	10	AAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	72	AAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₅=0.999992	del(A)₆=0.000008
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.1687
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.1120
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.1746
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.1928
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.191
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.202
Allele Frequency Aggregator	Total	Global	1830	(A)₁₅=1.0000	del(A)₆=0.0000, del(A)₅=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	1176	(A)₁₅=1.0000	del(A)₆=0.0000, del(A)₅=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	506	(A)₁₅=1.000	del(A)₆=0.000, del(A)₅=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	Other	Sub	72	(A)₁₅=1.00	del(A)₆=0.00, del(A)₅=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	Latin American 2	Sub	34	(A)₁₅=1.00	del(A)₆=0.00, del(A)₅=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	Latin American 1	Sub	26	(A)₁₅=1.00	del(A)₆=0.00, del(A)₅=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	10	(A)₁₅=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Asian	Sub	6	(A)₁₅=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0

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 1	NC_000001.11:g.212369035_212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369036_212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369037_212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369038_212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369039_212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369040del
GRCh38.p14 chr 1	NC_000001.11:g.212369040dup
GRCh38.p14 chr 1	NC_000001.11:g.212369039_212369040dup
GRCh38.p14 chr 1	NC_000001.11:g.212369038_212369040dup
GRCh38.p14 chr 1	NC_000001.11:g.212369037_212369040dup
GRCh37.p13 chr 1	NC_000001.10:g.212542377_212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542378_212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542379_212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542380_212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542381_212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542382del
GRCh37.p13 chr 1	NC_000001.10:g.212542382dup
GRCh37.p13 chr 1	NC_000001.10:g.212542381_212542382dup
GRCh37.p13 chr 1	NC_000001.10:g.212542380_212542382dup
GRCh37.p13 chr 1	NC_000001.10:g.212542379_212542382dup

Gene: PACC1, proton activated chloride channel 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PACC1 transcript variant 1	NM_001198862.2:c.1075-365… NM_001198862.2:c.1075-3655_1075-3650del	N/A	Intron Variant
PACC1 transcript variant 3	NM_001377478.1:c.682-3655… NM_001377478.1:c.682-3655_682-3650del	N/A	Intron Variant
PACC1 transcript variant 4	NM_001377479.1:c.661-3655… NM_001377479.1:c.661-3655_661-3650del	N/A	Intron Variant
PACC1 transcript variant 5	NM_001377480.1:c.747-3655… NM_001377480.1:c.747-3655_747-3650del	N/A	Intron Variant
PACC1 transcript variant 2	NM_018252.3:c.892-3655_89… NM_018252.3:c.892-3655_892-3650del	N/A	Intron Variant
PACC1 transcript variant 6	NR_165303.1:n.	N/A	Intron Variant
PACC1 transcript variant X2	XM_011509718.4:c.516-3655… XM_011509718.4:c.516-3655_516-3650del	N/A	Intron Variant
PACC1 transcript variant X1	XM_047424316.1:c.553-3655… XM_047424316.1:c.553-3655_553-3650del	N/A	Intron Variant
PACC1 transcript variant X3	XM_047424317.1:c.784-3655… XM_047424317.1:c.784-3655_784-3650del	N/A	Intron Variant
PACC1 transcript variant X4	XM_047424318.1:c.408-3655… XM_047424318.1:c.408-3655_408-3650del	N/A	Intron Variant
PACC1 transcript variant X5	XM_047424319.1:c.553-3655… XM_047424319.1:c.553-3655_553-3650del	N/A	Intron Variant
PACC1 transcript variant X6	XM_047424320.1:c.639-3655… XM_047424320.1:c.639-3655_639-3650del	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)₁₅=	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 1	NC_000001.11:g.212369026_212369040=	NC_000001.11:g.212369035_212369040del	NC_000001.11:g.212369036_212369040del	NC_000001.11:g.212369037_212369040del	NC_000001.11:g.212369038_212369040del	NC_000001.11:g.212369039_212369040del	NC_000001.11:g.212369040del	NC_000001.11:g.212369040dup	NC_000001.11:g.212369039_212369040dup	NC_000001.11:g.212369038_212369040dup	NC_000001.11:g.212369037_212369040dup
GRCh37.p13 chr 1	NC_000001.10:g.212542368_212542382=	NC_000001.10:g.212542377_212542382del	NC_000001.10:g.212542378_212542382del	NC_000001.10:g.212542379_212542382del	NC_000001.10:g.212542380_212542382del	NC_000001.10:g.212542381_212542382del	NC_000001.10:g.212542382del	NC_000001.10:g.212542382dup	NC_000001.10:g.212542381_212542382dup	NC_000001.10:g.212542380_212542382dup	NC_000001.10:g.212542379_212542382dup
PACC1 transcript variant 1	NM_001198862.1:c.1075-3650=	NM_001198862.1:c.1075-3655_1075-3650del	NM_001198862.1:c.1075-3654_1075-3650del	NM_001198862.1:c.1075-3653_1075-3650del	NM_001198862.1:c.1075-3652_1075-3650del	NM_001198862.1:c.1075-3651_1075-3650del	NM_001198862.1:c.1075-3650del	NM_001198862.1:c.1075-3650dup	NM_001198862.1:c.1075-3651_1075-3650dup	NM_001198862.1:c.1075-3652_1075-3650dup	NM_001198862.1:c.1075-3653_1075-3650dup
PACC1 transcript variant 1	NM_001198862.2:c.1075-3650=	NM_001198862.2:c.1075-3655_1075-3650del	NM_001198862.2:c.1075-3654_1075-3650del	NM_001198862.2:c.1075-3653_1075-3650del	NM_001198862.2:c.1075-3652_1075-3650del	NM_001198862.2:c.1075-3651_1075-3650del	NM_001198862.2:c.1075-3650del	NM_001198862.2:c.1075-3650dup	NM_001198862.2:c.1075-3651_1075-3650dup	NM_001198862.2:c.1075-3652_1075-3650dup	NM_001198862.2:c.1075-3653_1075-3650dup
PACC1 transcript variant 3	NM_001377478.1:c.682-3650=	NM_001377478.1:c.682-3655_682-3650del	NM_001377478.1:c.682-3654_682-3650del	NM_001377478.1:c.682-3653_682-3650del	NM_001377478.1:c.682-3652_682-3650del	NM_001377478.1:c.682-3651_682-3650del	NM_001377478.1:c.682-3650del	NM_001377478.1:c.682-3650dup	NM_001377478.1:c.682-3651_682-3650dup	NM_001377478.1:c.682-3652_682-3650dup	NM_001377478.1:c.682-3653_682-3650dup
PACC1 transcript variant 4	NM_001377479.1:c.661-3650=	NM_001377479.1:c.661-3655_661-3650del	NM_001377479.1:c.661-3654_661-3650del	NM_001377479.1:c.661-3653_661-3650del	NM_001377479.1:c.661-3652_661-3650del	NM_001377479.1:c.661-3651_661-3650del	NM_001377479.1:c.661-3650del	NM_001377479.1:c.661-3650dup	NM_001377479.1:c.661-3651_661-3650dup	NM_001377479.1:c.661-3652_661-3650dup	NM_001377479.1:c.661-3653_661-3650dup
PACC1 transcript variant 5	NM_001377480.1:c.747-3650=	NM_001377480.1:c.747-3655_747-3650del	NM_001377480.1:c.747-3654_747-3650del	NM_001377480.1:c.747-3653_747-3650del	NM_001377480.1:c.747-3652_747-3650del	NM_001377480.1:c.747-3651_747-3650del	NM_001377480.1:c.747-3650del	NM_001377480.1:c.747-3650dup	NM_001377480.1:c.747-3651_747-3650dup	NM_001377480.1:c.747-3652_747-3650dup	NM_001377480.1:c.747-3653_747-3650dup
PACC1 transcript variant 2	NM_018252.2:c.892-3650=	NM_018252.2:c.892-3655_892-3650del	NM_018252.2:c.892-3654_892-3650del	NM_018252.2:c.892-3653_892-3650del	NM_018252.2:c.892-3652_892-3650del	NM_018252.2:c.892-3651_892-3650del	NM_018252.2:c.892-3650del	NM_018252.2:c.892-3650dup	NM_018252.2:c.892-3651_892-3650dup	NM_018252.2:c.892-3652_892-3650dup	NM_018252.2:c.892-3653_892-3650dup
PACC1 transcript variant 2	NM_018252.3:c.892-3650=	NM_018252.3:c.892-3655_892-3650del	NM_018252.3:c.892-3654_892-3650del	NM_018252.3:c.892-3653_892-3650del	NM_018252.3:c.892-3652_892-3650del	NM_018252.3:c.892-3651_892-3650del	NM_018252.3:c.892-3650del	NM_018252.3:c.892-3650dup	NM_018252.3:c.892-3651_892-3650dup	NM_018252.3:c.892-3652_892-3650dup	NM_018252.3:c.892-3653_892-3650dup
TMEM206 transcript variant X1	XM_005273177.1:c.661-3650=	XM_005273177.1:c.661-3655_661-3650del	XM_005273177.1:c.661-3654_661-3650del	XM_005273177.1:c.661-3653_661-3650del	XM_005273177.1:c.661-3652_661-3650del	XM_005273177.1:c.661-3651_661-3650del	XM_005273177.1:c.661-3650del	XM_005273177.1:c.661-3650dup	XM_005273177.1:c.661-3651_661-3650dup	XM_005273177.1:c.661-3652_661-3650dup	XM_005273177.1:c.661-3653_661-3650dup
PACC1 transcript variant X2	XM_011509718.4:c.516-3650=	XM_011509718.4:c.516-3655_516-3650del	XM_011509718.4:c.516-3654_516-3650del	XM_011509718.4:c.516-3653_516-3650del	XM_011509718.4:c.516-3652_516-3650del	XM_011509718.4:c.516-3651_516-3650del	XM_011509718.4:c.516-3650del	XM_011509718.4:c.516-3650dup	XM_011509718.4:c.516-3651_516-3650dup	XM_011509718.4:c.516-3652_516-3650dup	XM_011509718.4:c.516-3653_516-3650dup
PACC1 transcript variant X1	XM_047424316.1:c.553-3650=	XM_047424316.1:c.553-3655_553-3650del	XM_047424316.1:c.553-3654_553-3650del	XM_047424316.1:c.553-3653_553-3650del	XM_047424316.1:c.553-3652_553-3650del	XM_047424316.1:c.553-3651_553-3650del	XM_047424316.1:c.553-3650del	XM_047424316.1:c.553-3650dup	XM_047424316.1:c.553-3651_553-3650dup	XM_047424316.1:c.553-3652_553-3650dup	XM_047424316.1:c.553-3653_553-3650dup
PACC1 transcript variant X3	XM_047424317.1:c.784-3650=	XM_047424317.1:c.784-3655_784-3650del	XM_047424317.1:c.784-3654_784-3650del	XM_047424317.1:c.784-3653_784-3650del	XM_047424317.1:c.784-3652_784-3650del	XM_047424317.1:c.784-3651_784-3650del	XM_047424317.1:c.784-3650del	XM_047424317.1:c.784-3650dup	XM_047424317.1:c.784-3651_784-3650dup	XM_047424317.1:c.784-3652_784-3650dup	XM_047424317.1:c.784-3653_784-3650dup
PACC1 transcript variant X4	XM_047424318.1:c.408-3650=	XM_047424318.1:c.408-3655_408-3650del	XM_047424318.1:c.408-3654_408-3650del	XM_047424318.1:c.408-3653_408-3650del	XM_047424318.1:c.408-3652_408-3650del	XM_047424318.1:c.408-3651_408-3650del	XM_047424318.1:c.408-3650del	XM_047424318.1:c.408-3650dup	XM_047424318.1:c.408-3651_408-3650dup	XM_047424318.1:c.408-3652_408-3650dup	XM_047424318.1:c.408-3653_408-3650dup
PACC1 transcript variant X5	XM_047424319.1:c.553-3650=	XM_047424319.1:c.553-3655_553-3650del	XM_047424319.1:c.553-3654_553-3650del	XM_047424319.1:c.553-3653_553-3650del	XM_047424319.1:c.553-3652_553-3650del	XM_047424319.1:c.553-3651_553-3650del	XM_047424319.1:c.553-3650del	XM_047424319.1:c.553-3650dup	XM_047424319.1:c.553-3651_553-3650dup	XM_047424319.1:c.553-3652_553-3650dup	XM_047424319.1:c.553-3653_553-3650dup
PACC1 transcript variant X6	XM_047424320.1:c.639-3650=	XM_047424320.1:c.639-3655_639-3650del	XM_047424320.1:c.639-3654_639-3650del	XM_047424320.1:c.639-3653_639-3650del	XM_047424320.1:c.639-3652_639-3650del	XM_047424320.1:c.639-3651_639-3650del	XM_047424320.1:c.639-3650del	XM_047424320.1:c.639-3650dup	XM_047424320.1:c.639-3651_639-3650dup	XM_047424320.1:c.639-3652_639-3650dup	XM_047424320.1:c.639-3653_639-3650dup

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#.

52 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81799284	Dec 15, 2007 (129)
2	SSMP	ss663154830	Apr 01, 2015 (144)
3	1000GENOMES	ss1367989908	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1701743034	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1701743051	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709970570	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1709970577	Apr 01, 2015 (144)
8	SWEGEN	ss2988399729	Nov 08, 2017 (151)
9	EVA_DECODE	ss3688570179	Jul 12, 2019 (153)
10	EVA_DECODE	ss3688570180	Jul 12, 2019 (153)
11	EVA_DECODE	ss3688570181	Jul 12, 2019 (153)
12	EVA_DECODE	ss3688570182	Jul 12, 2019 (153)
13	EVA_DECODE	ss3688570183	Jul 12, 2019 (153)
14	ACPOP	ss3727835453	Jul 12, 2019 (153)
15	ACPOP	ss3727835454	Jul 12, 2019 (153)
16	INMEGENXS	ss3745574803	Jul 12, 2019 (153)
17	PACBIO	ss3783679161	Jul 12, 2019 (153)
18	PACBIO	ss3789292708	Jul 12, 2019 (153)
19	PACBIO	ss3794164992	Jul 12, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3800302336	Jul 12, 2019 (153)
21	EVA	ss3826627261	Apr 25, 2020 (154)
22	EVA	ss3836714441	Apr 25, 2020 (154)
23	EVA	ss3842126062	Apr 25, 2020 (154)
24	GNOMAD	ss4010767978	Apr 25, 2021 (155)
25	GNOMAD	ss4010767979	Apr 25, 2021 (155)
26	GNOMAD	ss4010767980	Apr 25, 2021 (155)
27	GNOMAD	ss4010767981	Apr 25, 2021 (155)
28	GNOMAD	ss4010767982	Apr 25, 2021 (155)
29	GNOMAD	ss4010767983	Apr 25, 2021 (155)
30	GNOMAD	ss4010767984	Apr 25, 2021 (155)
31	GNOMAD	ss4010767985	Apr 25, 2021 (155)
32	GNOMAD	ss4010767986	Apr 25, 2021 (155)
33	TOPMED	ss4482482490	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5148294071	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5148294072	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5148294073	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5148294074	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5148294075	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5245690017	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5245690018	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5245690019	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5245690020	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5446136265	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5446136267	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5446136268	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5676016323	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5676016324	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5676016326	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5676016327	Oct 12, 2022 (156)
50	EVA	ss5833218506	Oct 12, 2022 (156)
51	EVA	ss5833218507	Oct 12, 2022 (156)
52	EVA	ss5833218508	Oct 12, 2022 (156)
53	1000Genomes	NC_000001.10 - 212542368	Oct 11, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2966200 (NC_000001.10:212542367:A: 1575/3854) Row 2966201 (NC_000001.10:212542367::A 1426/3854)	-	Oct 11, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2966200 (NC_000001.10:212542367:A: 1575/3854) Row 2966201 (NC_000001.10:212542367::A 1426/3854)	-	Oct 11, 2018 (152)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38686959 (NC_000001.11:212369025::A 36320/111894) Row 38686960 (NC_000001.11:212369025::AA 166/112142) Row 38686961 (NC_000001.11:212369025::AAA 3/112182)...	-	Apr 25, 2021 (155)
66	Northern Sweden Submission ignored due to conflicting rows: Row 1120318 (NC_000001.10:212542367:A: 191/404) Row 1120319 (NC_000001.10:212542367::A 80/404)	-	Jul 12, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 1120318 (NC_000001.10:212542367:A: 191/404) Row 1120319 (NC_000001.10:212542367::A 80/404)	-	Jul 12, 2019 (153)
68	8.3KJPN Submission ignored due to conflicting rows: Row 6263378 (NC_000001.10:212542367::A 5590/16634) Row 6263379 (NC_000001.10:212542367:A: 6741/16634) Row 6263380 (NC_000001.10:212542367::AA 194/16634)...	-	Apr 25, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 6263378 (NC_000001.10:212542367::A 5590/16634) Row 6263379 (NC_000001.10:212542367:A: 6741/16634) Row 6263380 (NC_000001.10:212542367::AA 194/16634)...	-	Apr 25, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 6263378 (NC_000001.10:212542367::A 5590/16634) Row 6263379 (NC_000001.10:212542367:A: 6741/16634) Row 6263380 (NC_000001.10:212542367::AA 194/16634)...	-	Apr 25, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 6263378 (NC_000001.10:212542367::A 5590/16634) Row 6263379 (NC_000001.10:212542367:A: 6741/16634) Row 6263380 (NC_000001.10:212542367::AA 194/16634)...	-	Apr 25, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 6263378 (NC_000001.10:212542367::A 5590/16634) Row 6263379 (NC_000001.10:212542367:A: 6741/16634) Row 6263380 (NC_000001.10:212542367::AA 194/16634)...	-	Apr 25, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 9853427 (NC_000001.11:212369025::A 9658/28220) Row 9853428 (NC_000001.11:212369025:A: 11248/28220) Row 9853430 (NC_000001.11:212369025::AA 335/28220)...	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 9853427 (NC_000001.11:212369025::A 9658/28220) Row 9853428 (NC_000001.11:212369025:A: 11248/28220) Row 9853430 (NC_000001.11:212369025::AA 335/28220)...	-	Oct 12, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 9853427 (NC_000001.11:212369025::A 9658/28220) Row 9853428 (NC_000001.11:212369025:A: 11248/28220) Row 9853430 (NC_000001.11:212369025::AA 335/28220)...	-	Oct 12, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 9853427 (NC_000001.11:212369025::A 9658/28220) Row 9853428 (NC_000001.11:212369025:A: 11248/28220) Row 9853430 (NC_000001.11:212369025::AA 335/28220)...	-	Oct 12, 2022 (156)
77	TopMed	NC_000001.11 - 212369026	Apr 25, 2021 (155)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2966200 (NC_000001.10:212542367:A: 1557/3708) Row 2966201 (NC_000001.10:212542367::A 1400/3708)	-	Oct 11, 2018 (152)
79	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2966200 (NC_000001.10:212542367:A: 1557/3708) Row 2966201 (NC_000001.10:212542367::A 1400/3708)	-	Oct 11, 2018 (152)
80	ALFA	NC_000001.11 - 212369026	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46088825, ss4010767986, ss4482482490	NC_000001.11:212369025:AAAAAA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss5148294075	NC_000001.10:212542367:AAAAA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4010767985, ss5676016327	NC_000001.11:212369025:AAAAA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4010767984	NC_000001.11:212369025:AAAA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3688570183, ss4010767983	NC_000001.11:212369025:AAA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5148294074	NC_000001.10:212542367:AA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4010767982, ss5245690020	NC_000001.11:212369025:AA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3688570182	NC_000001.11:212369026:AA:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss81799284	NC_000001.8:208930776:A:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss663154830, ss1701743034, ss1701743051, ss2988399729, ss3727835453, ss3836714441, ss5148294072, ss5833218507	NC_000001.10:212542367:A:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3842126062, ss5245690017, ss5446136265, ss5676016324	NC_000001.11:212369025:A:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3688570181	NC_000001.11:212369027:A:	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5376766, ss1367989908, ss3727835454, ss3783679161, ss3789292708, ss3794164992, ss3826627261, ss5148294071, ss5833218506	NC_000001.10:212542367::A	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1709970570, ss1709970577, ss3745574803	NC_000001.10:212542368::A	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3800302336, ss4010767978, ss5245690018, ss5446136267, ss5676016323	NC_000001.11:212369025::A	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3688570180	NC_000001.11:212369028::A	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5148294073, ss5833218508	NC_000001.10:212542367::AA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4010767979, ss5245690019, ss5446136268, ss5676016326	NC_000001.11:212369025::AA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3688570179	NC_000001.11:212369028::AA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4010767980	NC_000001.11:212369025::AAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4010767981	NC_000001.11:212369025::AAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10041944223	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:212369025:AAAAAAAAAAA… NC_000001.11:212369025:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(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 rs60126911

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60126911