Name: rs561646
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.

rs561646

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:86034995 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.306479 (81122/264690, TOPMED)
C=0.301831 (42257/140002, GnomAD)
C=0.43361 (12253/28258, 14KJPN) (+ 17 more)
C=0.30471 (5756/18890, ALFA)
C=0.43072 (7218/16758, 8.3KJPN)
C=0.3289 (2106/6404, 1000G_30x)
C=0.3353 (1679/5008, 1000G)
C=0.3165 (1418/4480, Estonian)
C=0.3210 (1237/3854, ALSPAC)
C=0.3083 (1143/3708, TWINSUK)
C=0.3925 (1150/2930, KOREAN)
C=0.3974 (728/1832, Korea1K)
C=0.310 (309/998, GoNL)
C=0.350 (210/600, NorthernSweden)
C=0.264 (117/444, SGDP_PRJ)
C=0.299 (98/328, HapMap)
C=0.407 (88/216, Qatari)
C=0.398 (86/216, Vietnamese)
C=0.26 (13/50, Siberian)
C=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PICALM : Intron Variant
Publications: 1 citation
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18890	C=0.30471	T=0.69529
European	Sub	14286	C=0.31646	T=0.68354
African	Sub	2946	C=0.2169	T=0.7831
African Others	Sub	114	C=0.202	T=0.798
African American	Sub	2832	C=0.2175	T=0.7825
Asian	Sub	112	C=0.339	T=0.661
East Asian	Sub	86	C=0.36	T=0.64
Other Asian	Sub	26	C=0.27	T=0.73
Latin American 1	Sub	146	C=0.281	T=0.719
Latin American 2	Sub	610	C=0.428	T=0.572
South Asian	Sub	98	C=0.42	T=0.58
Other	Sub	692	C=0.311	T=0.689

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	C=0.306479	T=0.693521
gnomAD - Genomes	Global	Study-wide	140002	C=0.301831	T=0.698169
gnomAD - Genomes	European	Sub	75830	C=0.32486	T=0.67514
gnomAD - Genomes	African	Sub	41946	C=0.22491	T=0.77509
gnomAD - Genomes	American	Sub	13630	C=0.37153	T=0.62847
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3715	T=0.6285
gnomAD - Genomes	East Asian	Sub	3122	C=0.3997	T=0.6003
gnomAD - Genomes	Other	Sub	2152	C=0.2988	T=0.7012
14KJPN	JAPANESE	Study-wide	28258	C=0.43361	T=0.56639
Allele Frequency Aggregator	Total	Global	18890	C=0.30471	T=0.69529
Allele Frequency Aggregator	European	Sub	14286	C=0.31646	T=0.68354
Allele Frequency Aggregator	African	Sub	2946	C=0.2169	T=0.7831
Allele Frequency Aggregator	Other	Sub	692	C=0.311	T=0.689
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.428	T=0.572
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.281	T=0.719
Allele Frequency Aggregator	Asian	Sub	112	C=0.339	T=0.661
Allele Frequency Aggregator	South Asian	Sub	98	C=0.42	T=0.58
8.3KJPN	JAPANESE	Study-wide	16758	C=0.43072	T=0.56928
1000Genomes_30x	Global	Study-wide	6404	C=0.3289	T=0.6711
1000Genomes_30x	African	Sub	1786	C=0.2010	T=0.7990
1000Genomes_30x	Europe	Sub	1266	C=0.3136	T=0.6864
1000Genomes_30x	South Asian	Sub	1202	C=0.4151	T=0.5849
1000Genomes_30x	East Asian	Sub	1170	C=0.3897	T=0.6103
1000Genomes_30x	American	Sub	980	C=0.403	T=0.597
1000Genomes	Global	Study-wide	5008	C=0.3353	T=0.6647
1000Genomes	African	Sub	1322	C=0.2141	T=0.7859
1000Genomes	East Asian	Sub	1008	C=0.4008	T=0.5992
1000Genomes	Europe	Sub	1006	C=0.3191	T=0.6809
1000Genomes	South Asian	Sub	978	C=0.407	T=0.593
1000Genomes	American	Sub	694	C=0.393	T=0.607
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3165	T=0.6835
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3210	T=0.6790
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3083	T=0.6917
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3925	A=0.0000, G=0.0000, T=0.6075
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3974	T=0.6026
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.310	T=0.690
Northern Sweden	ACPOP	Study-wide	600	C=0.350	T=0.650
SGDP_PRJ	Global	Study-wide	444	C=0.264	T=0.736
HapMap	Global	Study-wide	328	C=0.299	T=0.701
HapMap	African	Sub	120	C=0.200	T=0.800
HapMap	American	Sub	120	C=0.325	T=0.675
HapMap	Asian	Sub	88	C=0.40	T=0.60
Qatari	Global	Study-wide	216	C=0.407	T=0.593
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.398	T=0.602
Siberian	Global	Study-wide	50	C=0.26	T=0.74
The Danish reference pan genome	Danish	Study-wide	40	C=0.33	T=0.68

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 11	NC_000011.10:g.86034995C>A
GRCh38.p14 chr 11	NC_000011.10:g.86034995C>G
GRCh38.p14 chr 11	NC_000011.10:g.86034995C>T
GRCh37.p13 chr 11	NC_000011.9:g.85746037C>A
GRCh37.p13 chr 11	NC_000011.9:g.85746037C>G
GRCh37.p13 chr 11	NC_000011.9:g.85746037C>T
PICALM RefSeqGene	NG_028942.1:g.39887G>T
PICALM RefSeqGene	NG_028942.1:g.39887G>C
PICALM RefSeqGene	NG_028942.1:g.39887G>A

Gene: PICALM, phosphatidylinositol binding clathrin assembly protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PICALM transcript variant 2	NM_001008660.3:c.131-3384… NM_001008660.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant 3	NM_001206946.2:c.131-3384… NM_001206946.2:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant 4	NM_001206947.2:c.-23-3384… NM_001206947.2:c.-23-3384G>T	N/A	Intron Variant
PICALM transcript variant 1	NM_007166.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X1	XM_005274322.4:c.131-3384… XM_005274322.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X2	XM_005274326.4:c.131-3384… XM_005274326.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X3	XM_005274328.4:c.131-3384… XM_005274328.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X6	XM_005274329.5:c.131-3384… XM_005274329.5:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X9	XM_005274331.4:c.131-3384… XM_005274331.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X9	XM_005274334.4:c.131-3384… XM_005274334.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X12	XM_005274336.4:c.131-3384… XM_005274336.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X15	XM_005274337.4:c.131-3384… XM_005274337.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X22	XM_005274340.4:c.131-3384… XM_005274340.4:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X5	XM_017018381.3:c.131-3384… XM_017018381.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X13	XM_017018383.3:c.131-3384… XM_017018383.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X14	XM_017018384.3:c.131-3384… XM_017018384.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X16	XM_017018385.3:c.131-3384… XM_017018385.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X18	XM_017018386.3:c.131-3384… XM_017018386.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X19	XM_017018387.3:c.131-3384… XM_017018387.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X20	XM_017018388.3:c.131-3384… XM_017018388.3:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X4	XM_024448700.2:c.131-3384… XM_024448700.2:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X7	XM_047427659.1:c.131-3384… XM_047427659.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X8	XM_047427660.1:c.-23-3384… XM_047427660.1:c.-23-3384G>T	N/A	Intron Variant
PICALM transcript variant X10	XM_047427661.1:c.131-3384… XM_047427661.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X11	XM_047427662.1:c.131-3384… XM_047427662.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X17	XM_047427663.1:c.131-3384… XM_047427663.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X21	XM_047427665.1:c.131-3384… XM_047427665.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X23	XM_047427666.1:c.-23-3384… XM_047427666.1:c.-23-3384G>T	N/A	Intron Variant
PICALM transcript variant X24	XM_047427667.1:c.131-3384… XM_047427667.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X25	XM_047427668.1:c.131-3384… XM_047427668.1:c.131-3384G>T	N/A	Intron Variant
PICALM transcript variant X26	XM_047427669.1:c.131-3384… XM_047427669.1:c.131-3384G>T	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 11	NC_000011.10:g.86034995=	NC_000011.10:g.86034995C>A	NC_000011.10:g.86034995C>G	NC_000011.10:g.86034995C>T
GRCh37.p13 chr 11	NC_000011.9:g.85746037=	NC_000011.9:g.85746037C>A	NC_000011.9:g.85746037C>G	NC_000011.9:g.85746037C>T
PICALM RefSeqGene	NG_028942.1:g.39887=	NG_028942.1:g.39887G>T	NG_028942.1:g.39887G>C	NG_028942.1:g.39887G>A
PICALM transcript variant 2	NM_001008660.2:c.131-3384=	NM_001008660.2:c.131-3384G>T	NM_001008660.2:c.131-3384G>C	NM_001008660.2:c.131-3384G>A
PICALM transcript variant 2	NM_001008660.3:c.131-3384=	NM_001008660.3:c.131-3384G>T	NM_001008660.3:c.131-3384G>C	NM_001008660.3:c.131-3384G>A
PICALM transcript variant 3	NM_001206946.1:c.131-3384=	NM_001206946.1:c.131-3384G>T	NM_001206946.1:c.131-3384G>C	NM_001206946.1:c.131-3384G>A
PICALM transcript variant 3	NM_001206946.2:c.131-3384=	NM_001206946.2:c.131-3384G>T	NM_001206946.2:c.131-3384G>C	NM_001206946.2:c.131-3384G>A
PICALM transcript variant 4	NM_001206947.1:c.-23-3384=	NM_001206947.1:c.-23-3384G>T	NM_001206947.1:c.-23-3384G>C	NM_001206947.1:c.-23-3384G>A
PICALM transcript variant 4	NM_001206947.2:c.-23-3384=	NM_001206947.2:c.-23-3384G>T	NM_001206947.2:c.-23-3384G>C	NM_001206947.2:c.-23-3384G>A
PICALM transcript variant 1	NM_007166.3:c.131-3384=	NM_007166.3:c.131-3384G>T	NM_007166.3:c.131-3384G>C	NM_007166.3:c.131-3384G>A
PICALM transcript variant 1	NM_007166.4:c.131-3384=	NM_007166.4:c.131-3384G>T	NM_007166.4:c.131-3384G>C	NM_007166.4:c.131-3384G>A
PICALM transcript variant X1	XM_005274322.1:c.131-3384=	XM_005274322.1:c.131-3384G>T	XM_005274322.1:c.131-3384G>C	XM_005274322.1:c.131-3384G>A
PICALM transcript variant X1	XM_005274322.4:c.131-3384=	XM_005274322.4:c.131-3384G>T	XM_005274322.4:c.131-3384G>C	XM_005274322.4:c.131-3384G>A
PICALM transcript variant X2	XM_005274323.1:c.131-3384=	XM_005274323.1:c.131-3384G>T	XM_005274323.1:c.131-3384G>C	XM_005274323.1:c.131-3384G>A
PICALM transcript variant X3	XM_005274324.1:c.131-3384=	XM_005274324.1:c.131-3384G>T	XM_005274324.1:c.131-3384G>C	XM_005274324.1:c.131-3384G>A
PICALM transcript variant X4	XM_005274325.1:c.131-3384=	XM_005274325.1:c.131-3384G>T	XM_005274325.1:c.131-3384G>C	XM_005274325.1:c.131-3384G>A
PICALM transcript variant X5	XM_005274326.1:c.131-3384=	XM_005274326.1:c.131-3384G>T	XM_005274326.1:c.131-3384G>C	XM_005274326.1:c.131-3384G>A
PICALM transcript variant X2	XM_005274326.4:c.131-3384=	XM_005274326.4:c.131-3384G>T	XM_005274326.4:c.131-3384G>C	XM_005274326.4:c.131-3384G>A
PICALM transcript variant X6	XM_005274327.1:c.131-3384=	XM_005274327.1:c.131-3384G>T	XM_005274327.1:c.131-3384G>C	XM_005274327.1:c.131-3384G>A
PICALM transcript variant X7	XM_005274328.1:c.131-3384=	XM_005274328.1:c.131-3384G>T	XM_005274328.1:c.131-3384G>C	XM_005274328.1:c.131-3384G>A
PICALM transcript variant X3	XM_005274328.4:c.131-3384=	XM_005274328.4:c.131-3384G>T	XM_005274328.4:c.131-3384G>C	XM_005274328.4:c.131-3384G>A
PICALM transcript variant X8	XM_005274329.1:c.131-3384=	XM_005274329.1:c.131-3384G>T	XM_005274329.1:c.131-3384G>C	XM_005274329.1:c.131-3384G>A
PICALM transcript variant X6	XM_005274329.5:c.131-3384=	XM_005274329.5:c.131-3384G>T	XM_005274329.5:c.131-3384G>C	XM_005274329.5:c.131-3384G>A
PICALM transcript variant X9	XM_005274330.1:c.131-3384=	XM_005274330.1:c.131-3384G>T	XM_005274330.1:c.131-3384G>C	XM_005274330.1:c.131-3384G>A
PICALM transcript variant X10	XM_005274331.1:c.131-3384=	XM_005274331.1:c.131-3384G>T	XM_005274331.1:c.131-3384G>C	XM_005274331.1:c.131-3384G>A
PICALM transcript variant X9	XM_005274331.4:c.131-3384=	XM_005274331.4:c.131-3384G>T	XM_005274331.4:c.131-3384G>C	XM_005274331.4:c.131-3384G>A
PICALM transcript variant X11	XM_005274332.1:c.131-3384=	XM_005274332.1:c.131-3384G>T	XM_005274332.1:c.131-3384G>C	XM_005274332.1:c.131-3384G>A
PICALM transcript variant X12	XM_005274333.1:c.131-3384=	XM_005274333.1:c.131-3384G>T	XM_005274333.1:c.131-3384G>C	XM_005274333.1:c.131-3384G>A
PICALM transcript variant X13	XM_005274334.1:c.131-3384=	XM_005274334.1:c.131-3384G>T	XM_005274334.1:c.131-3384G>C	XM_005274334.1:c.131-3384G>A
PICALM transcript variant X9	XM_005274334.4:c.131-3384=	XM_005274334.4:c.131-3384G>T	XM_005274334.4:c.131-3384G>C	XM_005274334.4:c.131-3384G>A
PICALM transcript variant X14	XM_005274335.1:c.131-3384=	XM_005274335.1:c.131-3384G>T	XM_005274335.1:c.131-3384G>C	XM_005274335.1:c.131-3384G>A
PICALM transcript variant X15	XM_005274336.1:c.131-3384=	XM_005274336.1:c.131-3384G>T	XM_005274336.1:c.131-3384G>C	XM_005274336.1:c.131-3384G>A
PICALM transcript variant X12	XM_005274336.4:c.131-3384=	XM_005274336.4:c.131-3384G>T	XM_005274336.4:c.131-3384G>C	XM_005274336.4:c.131-3384G>A
PICALM transcript variant X16	XM_005274337.1:c.131-3384=	XM_005274337.1:c.131-3384G>T	XM_005274337.1:c.131-3384G>C	XM_005274337.1:c.131-3384G>A
PICALM transcript variant X15	XM_005274337.4:c.131-3384=	XM_005274337.4:c.131-3384G>T	XM_005274337.4:c.131-3384G>C	XM_005274337.4:c.131-3384G>A
PICALM transcript variant X19	XM_005274340.1:c.131-3384=	XM_005274340.1:c.131-3384G>T	XM_005274340.1:c.131-3384G>C	XM_005274340.1:c.131-3384G>A
PICALM transcript variant X22	XM_005274340.4:c.131-3384=	XM_005274340.4:c.131-3384G>T	XM_005274340.4:c.131-3384G>C	XM_005274340.4:c.131-3384G>A
PICALM transcript variant X5	XM_017018381.3:c.131-3384=	XM_017018381.3:c.131-3384G>T	XM_017018381.3:c.131-3384G>C	XM_017018381.3:c.131-3384G>A
PICALM transcript variant X13	XM_017018383.3:c.131-3384=	XM_017018383.3:c.131-3384G>T	XM_017018383.3:c.131-3384G>C	XM_017018383.3:c.131-3384G>A
PICALM transcript variant X14	XM_017018384.3:c.131-3384=	XM_017018384.3:c.131-3384G>T	XM_017018384.3:c.131-3384G>C	XM_017018384.3:c.131-3384G>A
PICALM transcript variant X16	XM_017018385.3:c.131-3384=	XM_017018385.3:c.131-3384G>T	XM_017018385.3:c.131-3384G>C	XM_017018385.3:c.131-3384G>A
PICALM transcript variant X18	XM_017018386.3:c.131-3384=	XM_017018386.3:c.131-3384G>T	XM_017018386.3:c.131-3384G>C	XM_017018386.3:c.131-3384G>A
PICALM transcript variant X19	XM_017018387.3:c.131-3384=	XM_017018387.3:c.131-3384G>T	XM_017018387.3:c.131-3384G>C	XM_017018387.3:c.131-3384G>A
PICALM transcript variant X20	XM_017018388.3:c.131-3384=	XM_017018388.3:c.131-3384G>T	XM_017018388.3:c.131-3384G>C	XM_017018388.3:c.131-3384G>A
PICALM transcript variant X4	XM_024448700.2:c.131-3384=	XM_024448700.2:c.131-3384G>T	XM_024448700.2:c.131-3384G>C	XM_024448700.2:c.131-3384G>A
PICALM transcript variant X7	XM_047427659.1:c.131-3384=	XM_047427659.1:c.131-3384G>T	XM_047427659.1:c.131-3384G>C	XM_047427659.1:c.131-3384G>A
PICALM transcript variant X8	XM_047427660.1:c.-23-3384=	XM_047427660.1:c.-23-3384G>T	XM_047427660.1:c.-23-3384G>C	XM_047427660.1:c.-23-3384G>A
PICALM transcript variant X10	XM_047427661.1:c.131-3384=	XM_047427661.1:c.131-3384G>T	XM_047427661.1:c.131-3384G>C	XM_047427661.1:c.131-3384G>A
PICALM transcript variant X11	XM_047427662.1:c.131-3384=	XM_047427662.1:c.131-3384G>T	XM_047427662.1:c.131-3384G>C	XM_047427662.1:c.131-3384G>A
PICALM transcript variant X17	XM_047427663.1:c.131-3384=	XM_047427663.1:c.131-3384G>T	XM_047427663.1:c.131-3384G>C	XM_047427663.1:c.131-3384G>A
PICALM transcript variant X21	XM_047427665.1:c.131-3384=	XM_047427665.1:c.131-3384G>T	XM_047427665.1:c.131-3384G>C	XM_047427665.1:c.131-3384G>A
PICALM transcript variant X23	XM_047427666.1:c.-23-3384=	XM_047427666.1:c.-23-3384G>T	XM_047427666.1:c.-23-3384G>C	XM_047427666.1:c.-23-3384G>A
PICALM transcript variant X24	XM_047427667.1:c.131-3384=	XM_047427667.1:c.131-3384G>T	XM_047427667.1:c.131-3384G>C	XM_047427667.1:c.131-3384G>A
PICALM transcript variant X25	XM_047427668.1:c.131-3384=	XM_047427668.1:c.131-3384G>T	XM_047427668.1:c.131-3384G>C	XM_047427668.1:c.131-3384G>A
PICALM transcript variant X26	XM_047427669.1:c.131-3384=	XM_047427669.1:c.131-3384G>T	XM_047427669.1:c.131-3384G>C	XM_047427669.1:c.131-3384G>A

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#.

76 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss732776	Aug 11, 2000 (83)
2	BCM_SSAHASNP	ss10688521	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12158530	Jul 11, 2003 (116)
4	PERLEGEN	ss24211136	Sep 20, 2004 (123)
5	ABI	ss38669976	Mar 14, 2006 (126)
6	BCMHGSC_JDW	ss88665900	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss97494917	Feb 04, 2009 (130)
8	BGI	ss106756546	Feb 04, 2009 (130)
9	1000GENOMES	ss110781534	Jan 25, 2009 (130)
10	1000GENOMES	ss114907215	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss119924482	Dec 01, 2009 (131)
12	ILLUMINA	ss120241563	Dec 01, 2009 (131)
13	ENSEMBL	ss132696199	Dec 01, 2009 (131)
14	GMI	ss156562250	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss168647442	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss170491147	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss175214214	Jul 04, 2010 (132)
18	BUSHMAN	ss202981102	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss207819742	Jul 04, 2010 (132)
20	1000GENOMES	ss225361190	Jul 14, 2010 (132)
21	1000GENOMES	ss235644229	Jul 15, 2010 (132)
22	1000GENOMES	ss242258364	Jul 15, 2010 (132)
23	ILLUMINA	ss244258794	Jul 04, 2010 (132)
24	BL	ss255314961	May 09, 2011 (134)
25	GMI	ss281095249	May 04, 2012 (137)
26	GMI	ss286421257	Apr 25, 2013 (138)
27	TISHKOFF	ss562707752	Apr 25, 2013 (138)
28	SSMP	ss658220981	Apr 25, 2013 (138)
29	EVA-GONL	ss988765771	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1077899577	Aug 21, 2014 (142)
31	1000GENOMES	ss1342230704	Aug 21, 2014 (142)
32	DDI	ss1426699824	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1575839655	Apr 01, 2015 (144)
34	EVA_DECODE	ss1598430042	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1627080179	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1670074212	Apr 01, 2015 (144)
37	HAMMER_LAB	ss1806913592	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1932124350	Feb 12, 2016 (147)
39	GENOMED	ss1967410031	Jul 19, 2016 (147)
40	JJLAB	ss2026804446	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2155116488	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2184245432	Dec 20, 2016 (150)
43	SYSTEMSBIOZJU	ss2627874595	Nov 08, 2017 (151)
44	GRF	ss2699413810	Nov 08, 2017 (151)
45	GNOMAD	ss2902380090	Nov 08, 2017 (151)
46	SWEGEN	ss3008480424	Nov 08, 2017 (151)
47	BIOINF_KMB_FNS_UNIBA	ss3027199793	Nov 08, 2017 (151)
48	CSHL	ss3349704348	Nov 08, 2017 (151)
49	URBANLAB	ss3649659411	Oct 12, 2018 (152)
50	EGCUT_WGS	ss3675803865	Jul 13, 2019 (153)
51	ACPOP	ss3738377070	Jul 13, 2019 (153)
52	EVA	ss3749586234	Jul 13, 2019 (153)
53	PACBIO	ss3787013238	Jul 13, 2019 (153)
54	PACBIO	ss3792144446	Jul 13, 2019 (153)
55	PACBIO	ss3797026791	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3814918407	Jul 13, 2019 (153)
57	EVA	ss3832742952	Apr 26, 2020 (154)
58	EVA	ss3839929518	Apr 26, 2020 (154)
59	EVA	ss3845410057	Apr 26, 2020 (154)
60	SGDP_PRJ	ss3876749088	Apr 26, 2020 (154)
61	KRGDB	ss3925173010	Apr 26, 2020 (154)
62	KOGIC	ss3970401798	Apr 26, 2020 (154)
63	TOPMED	ss4893570313	Apr 27, 2021 (155)
64	TOMMO_GENOMICS	ss5203070388	Apr 27, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5288260071	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5483332599	Oct 16, 2022 (156)
67	EVA	ss5510445982	Oct 16, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5584402509	Oct 16, 2022 (156)
69	SANFORD_IMAGENETICS	ss5624280661	Oct 16, 2022 (156)
70	SANFORD_IMAGENETICS	ss5651697270	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5751288412	Oct 16, 2022 (156)
72	YY_MCH	ss5812616358	Oct 16, 2022 (156)
73	EVA	ss5836978265	Oct 16, 2022 (156)
74	EVA	ss5850068848	Oct 16, 2022 (156)
75	EVA	ss5920927509	Oct 16, 2022 (156)
76	EVA	ss5943019307	Oct 16, 2022 (156)
77	1000Genomes	NC_000011.9 - 85746037	Oct 12, 2018 (152)
78	1000Genomes_30x	NC_000011.10 - 86034995	Oct 16, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 85746037	Oct 12, 2018 (152)
80	Genetic variation in the Estonian population	NC_000011.9 - 85746037	Oct 12, 2018 (152)
81	The Danish reference pan genome	NC_000011.9 - 85746037	Apr 26, 2020 (154)
82	gnomAD - Genomes	NC_000011.10 - 86034995	Apr 27, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000011.9 - 85746037	Apr 26, 2020 (154)
84	HapMap	NC_000011.10 - 86034995	Apr 26, 2020 (154)
85	KOREAN population from KRGDB	NC_000011.9 - 85746037	Apr 26, 2020 (154)
86	Korean Genome Project	NC_000011.10 - 86034995	Apr 26, 2020 (154)
87	Northern Sweden	NC_000011.9 - 85746037	Jul 13, 2019 (153)
88	Qatari	NC_000011.9 - 85746037	Apr 26, 2020 (154)
89	SGDP_PRJ	NC_000011.9 - 85746037	Apr 26, 2020 (154)
90	Siberian	NC_000011.9 - 85746037	Apr 26, 2020 (154)
91	8.3KJPN	NC_000011.9 - 85746037	Apr 27, 2021 (155)
92	14KJPN	NC_000011.10 - 86034995	Oct 16, 2022 (156)
93	TopMed	NC_000011.10 - 86034995	Apr 27, 2021 (155)
94	UK 10K study - Twins	NC_000011.9 - 85746037	Oct 12, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000011.9 - 85746037	Jul 13, 2019 (153)
96	ALFA	NC_000011.10 - 86034995	Apr 27, 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)
rs17817310	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
32350404, ss3925173010	NC_000011.9:85746036:C:A	NC_000011.10:86034994:C:A	(self)
32350404, ss3925173010	NC_000011.9:85746036:C:G	NC_000011.10:86034994:C:G	(self)
ss88665900, ss110781534, ss114907215, ss119924482, ss168647442, ss170491147, ss175214214, ss202981102, ss207819742, ss255314961, ss281095249, ss286421257, ss1598430042	NC_000011.8:85423684:C:T	NC_000011.10:86034994:C:T	(self)
54785508, 30411711, 21542113, 2656361, 13567327, 32350404, 11661935, 14166280, 28766068, 7632842, 61039695, 30411711, 6743974, ss225361190, ss235644229, ss242258364, ss562707752, ss658220981, ss988765771, ss1077899577, ss1342230704, ss1426699824, ss1575839655, ss1627080179, ss1670074212, ss1806913592, ss1932124350, ss1967410031, ss2026804446, ss2155116488, ss2627874595, ss2699413810, ss2902380090, ss3008480424, ss3349704348, ss3675803865, ss3738377070, ss3749586234, ss3787013238, ss3792144446, ss3797026791, ss3832742952, ss3839929518, ss3876749088, ss3925173010, ss5203070388, ss5510445982, ss5624280661, ss5651697270, ss5836978265, ss5943019307	NC_000011.9:85746036:C:T	NC_000011.10:86034994:C:T	(self)
71928444, 386670806, 655801, 26779799, 85125516, 109115969, 14228678099, ss2184245432, ss3027199793, ss3649659411, ss3814918407, ss3845410057, ss3970401798, ss4893570313, ss5288260071, ss5483332599, ss5584402509, ss5751288412, ss5812616358, ss5850068848, ss5920927509	NC_000011.10:86034994:C:T	NC_000011.10:86034994:C:T	(self)
ss10688521, ss12158530	NT_033927.5:15945064:C:T	NC_000011.10:86034994:C:T	(self)
ss732776, ss24211136, ss38669976, ss97494917, ss106756546, ss120241563, ss132696199, ss156562250, ss244258794	NT_167190.1:31051831:C:T	NC_000011.10:86034994:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs561646

PMID	Title	Author	Year	Journal
16451668	Application of the regression of offspring on mid-parent method to detect associations between single-nucleotide polymorphisms and the beta 2 electroencephalogram phenotype in the COGA data.	Roy-Gagnon MH et al.	2005	BMC genetics

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs561646