Name: rs5828609
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.

rs5828609

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54978235-54978251 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₅ / del(T)₄ / delTTT / delTT…
del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.2950 (1928/6535, ALFA)
(T)₁₇=0.3468 (1737/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NLRP2 : 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	6535	TTTTTTTTTTTTTTTTT=0.7044	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.2950, TTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTT=0.0000	0.553478	0.144039	0.302482	32
European	Sub	6263	TTTTTTTTTTTTTTTTT=0.6922	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.3072, TTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTT=0.0000	0.535018	0.149984	0.314998	32
African	Sub	120	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	6	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	114	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	24	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	44	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	20	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	64	TTTTTTTTTTTTTTTTT=0.94	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.06, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	0.90625	0.03125	0.0625	4

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6535	(T)₁₇=0.7044	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.2950, dupT=0.0006, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	6263	(T)₁₇=0.6922	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.3072, dupT=0.0006, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	120	(T)₁₇=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	64	(T)₁₇=0.94	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.06, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	44	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	24	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(T)₁₇=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₇=0	del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.3468	delT=0.6532
1000Genomes	African	Sub	1322	(T)₁₇=0.2927	delT=0.7073
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.2341	delT=0.7659
1000Genomes	Europe	Sub	1006	(T)₁₇=0.4801	delT=0.5199
1000Genomes	South Asian	Sub	978	(T)₁₇=0.409	delT=0.591
1000Genomes	American	Sub	694	(T)₁₇=0.333	delT=0.667

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 19	NC_000019.10:g.54978247_54978251del
GRCh38.p14 chr 19	NC_000019.10:g.54978248_54978251del
GRCh38.p14 chr 19	NC_000019.10:g.54978249_54978251del
GRCh38.p14 chr 19	NC_000019.10:g.54978250_54978251del
GRCh38.p14 chr 19	NC_000019.10:g.54978251del
GRCh38.p14 chr 19	NC_000019.10:g.54978251dup
GRCh38.p14 chr 19	NC_000019.10:g.54978250_54978251dup
GRCh38.p14 chr 19	NC_000019.10:g.54978244_54978251dup
GRCh37.p13 chr 19	NC_000019.9:g.55489615_55489619del
GRCh37.p13 chr 19	NC_000019.9:g.55489616_55489619del
GRCh37.p13 chr 19	NC_000019.9:g.55489617_55489619del
GRCh37.p13 chr 19	NC_000019.9:g.55489618_55489619del
GRCh37.p13 chr 19	NC_000019.9:g.55489619del
GRCh37.p13 chr 19	NC_000019.9:g.55489619dup
GRCh37.p13 chr 19	NC_000019.9:g.55489618_55489619dup
GRCh37.p13 chr 19	NC_000019.9:g.55489612_55489619dup
NLRP2 RefSeqGene	NG_052633.1:g.30118_30122del
NLRP2 RefSeqGene	NG_052633.1:g.30119_30122del
NLRP2 RefSeqGene	NG_052633.1:g.30120_30122del
NLRP2 RefSeqGene	NG_052633.1:g.30121_30122del
NLRP2 RefSeqGene	NG_052633.1:g.30122del
NLRP2 RefSeqGene	NG_052633.1:g.30122dup
NLRP2 RefSeqGene	NG_052633.1:g.30121_30122dup
NLRP2 RefSeqGene	NG_052633.1:g.30115_30122dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690408_690412del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690409_690412del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690410_690412del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690411_690412del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690412del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690412dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690411_690412dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690405_690412dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690407_690411del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690408_690411del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690409_690411del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690410_690411del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690411del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690411dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690410_690411dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690404_690411dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896612_896616del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896613_896616del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896614_896616del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896615_896616del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896616del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896616dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896615_896616dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896609_896616dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960319_960323del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960320_960323del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960321_960323del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960322_960323del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960323del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960323dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960322_960323dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960316_960323dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985770_985774del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985771_985774del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985772_985774del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985773_985774del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985774del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985774dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985773_985774dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985767_985774dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958233_958237del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958234_958237del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958235_958237del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958236_958237del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958237del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958237dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958236_958237dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958230_958237dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623449_623453del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623450_623453del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623451_623453del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623452_623453del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623453del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623453dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623452_623453dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623446_623453dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623448_623452del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623449_623452del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623450_623452del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623451_623452del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623452del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623452dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623451_623452dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623445_623452dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881645_881649del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881646_881649del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881647_881649del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881648_881649del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881649del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881649dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881648_881649dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881642_881649dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960729_960733del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960730_960733del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960731_960733del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960732_960733del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960733del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960733dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960732_960733dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960726_960733dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.880999_881003del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881000_881003del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881001_881003del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881002_881003del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881003del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881003dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.881002_881003dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.880996_881003dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952615_952619del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952616_952619del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952617_952619del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952618_952619del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952619del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952619dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952618_952619dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952612_952619dup

Gene: NLRP2, NLR family pyrin domain containing 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NLRP2 transcript variant 2	NM_001174081.3:c.397+424_… NM_001174081.3:c.397+424_397+428del	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.397+424_… NM_001174082.3:c.397+424_397+428del	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.328+424_… NM_001174083.2:c.328+424_328+428del	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.397+424_… NM_001348003.2:c.397+424_397+428del	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.397+424_397… NM_017852.5:c.397+424_397+428del	N/A	Intron Variant
NLRP2 transcript variant 6	NR_145325.2: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	(T)₁₇=	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dup(T)₈
GRCh38.p14 chr 19	NC_000019.10:g.54978235_54978251=	NC_000019.10:g.54978247_54978251del	NC_000019.10:g.54978248_54978251del	NC_000019.10:g.54978249_54978251del	NC_000019.10:g.54978250_54978251del	NC_000019.10:g.54978251del	NC_000019.10:g.54978251dup	NC_000019.10:g.54978250_54978251dup	NC_000019.10:g.54978244_54978251dup
GRCh37.p13 chr 19	NC_000019.9:g.55489603_55489619=	NC_000019.9:g.55489615_55489619del	NC_000019.9:g.55489616_55489619del	NC_000019.9:g.55489617_55489619del	NC_000019.9:g.55489618_55489619del	NC_000019.9:g.55489619del	NC_000019.9:g.55489619dup	NC_000019.9:g.55489618_55489619dup	NC_000019.9:g.55489612_55489619dup
NLRP2 RefSeqGene	NG_052633.1:g.30106_30122=	NG_052633.1:g.30118_30122del	NG_052633.1:g.30119_30122del	NG_052633.1:g.30120_30122del	NG_052633.1:g.30121_30122del	NG_052633.1:g.30122del	NG_052633.1:g.30122dup	NG_052633.1:g.30121_30122dup	NG_052633.1:g.30115_30122dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.690396_690412=	NW_003571061.2:g.690408_690412del	NW_003571061.2:g.690409_690412del	NW_003571061.2:g.690410_690412del	NW_003571061.2:g.690411_690412del	NW_003571061.2:g.690412del	NW_003571061.2:g.690412dup	NW_003571061.2:g.690411_690412dup	NW_003571061.2:g.690405_690412dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.690395_690411=	NW_003571061.1:g.690407_690411del	NW_003571061.1:g.690408_690411del	NW_003571061.1:g.690409_690411del	NW_003571061.1:g.690410_690411del	NW_003571061.1:g.690411del	NW_003571061.1:g.690411dup	NW_003571061.1:g.690410_690411dup	NW_003571061.1:g.690404_690411dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.896600_896616=	NW_003571059.2:g.896612_896616del	NW_003571059.2:g.896613_896616del	NW_003571059.2:g.896614_896616del	NW_003571059.2:g.896615_896616del	NW_003571059.2:g.896616del	NW_003571059.2:g.896616dup	NW_003571059.2:g.896615_896616dup	NW_003571059.2:g.896609_896616dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.960307_960323=	NW_003571058.2:g.960319_960323del	NW_003571058.2:g.960320_960323del	NW_003571058.2:g.960321_960323del	NW_003571058.2:g.960322_960323del	NW_003571058.2:g.960323del	NW_003571058.2:g.960323dup	NW_003571058.2:g.960322_960323dup	NW_003571058.2:g.960316_960323dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.985758_985774=	NW_003571057.2:g.985770_985774del	NW_003571057.2:g.985771_985774del	NW_003571057.2:g.985772_985774del	NW_003571057.2:g.985773_985774del	NW_003571057.2:g.985774del	NW_003571057.2:g.985774dup	NW_003571057.2:g.985773_985774dup	NW_003571057.2:g.985767_985774dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.958221_958237=	NW_003571056.2:g.958233_958237del	NW_003571056.2:g.958234_958237del	NW_003571056.2:g.958235_958237del	NW_003571056.2:g.958236_958237del	NW_003571056.2:g.958237del	NW_003571056.2:g.958237dup	NW_003571056.2:g.958236_958237dup	NW_003571056.2:g.958230_958237dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.623437_623453=	NW_003571055.2:g.623449_623453del	NW_003571055.2:g.623450_623453del	NW_003571055.2:g.623451_623453del	NW_003571055.2:g.623452_623453del	NW_003571055.2:g.623453del	NW_003571055.2:g.623453dup	NW_003571055.2:g.623452_623453dup	NW_003571055.2:g.623446_623453dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.623436_623452=	NW_003571055.1:g.623448_623452del	NW_003571055.1:g.623449_623452del	NW_003571055.1:g.623450_623452del	NW_003571055.1:g.623451_623452del	NW_003571055.1:g.623452del	NW_003571055.1:g.623452dup	NW_003571055.1:g.623451_623452dup	NW_003571055.1:g.623445_623452dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.881633_881649=	NW_003571054.1:g.881645_881649del	NW_003571054.1:g.881646_881649del	NW_003571054.1:g.881647_881649del	NW_003571054.1:g.881648_881649del	NW_003571054.1:g.881649del	NW_003571054.1:g.881649dup	NW_003571054.1:g.881648_881649dup	NW_003571054.1:g.881642_881649dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.960717_960733=	NT_187693.1:g.960729_960733del	NT_187693.1:g.960730_960733del	NT_187693.1:g.960731_960733del	NT_187693.1:g.960732_960733del	NT_187693.1:g.960733del	NT_187693.1:g.960733dup	NT_187693.1:g.960732_960733dup	NT_187693.1:g.960726_960733dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.880987_881003=	NW_003571060.1:g.880999_881003del	NW_003571060.1:g.881000_881003del	NW_003571060.1:g.881001_881003del	NW_003571060.1:g.881002_881003del	NW_003571060.1:g.881003del	NW_003571060.1:g.881003dup	NW_003571060.1:g.881002_881003dup	NW_003571060.1:g.880996_881003dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.952603_952619=	NW_004166865.1:g.952615_952619del	NW_004166865.1:g.952616_952619del	NW_004166865.1:g.952617_952619del	NW_004166865.1:g.952618_952619del	NW_004166865.1:g.952619del	NW_004166865.1:g.952619dup	NW_004166865.1:g.952618_952619dup	NW_004166865.1:g.952612_952619dup
NLRP2 transcript variant 2	NM_001174081.1:c.397+412=	NM_001174081.1:c.397+424_397+428del	NM_001174081.1:c.397+425_397+428del	NM_001174081.1:c.397+426_397+428del	NM_001174081.1:c.397+427_397+428del	NM_001174081.1:c.397+428del	NM_001174081.1:c.397+428dup	NM_001174081.1:c.397+427_397+428dup	NM_001174081.1:c.397+421_397+428dup
NLRP2 transcript variant 2	NM_001174081.3:c.397+412=	NM_001174081.3:c.397+424_397+428del	NM_001174081.3:c.397+425_397+428del	NM_001174081.3:c.397+426_397+428del	NM_001174081.3:c.397+427_397+428del	NM_001174081.3:c.397+428del	NM_001174081.3:c.397+428dup	NM_001174081.3:c.397+427_397+428dup	NM_001174081.3:c.397+421_397+428dup
NLRP2 transcript variant 3	NM_001174082.1:c.397+412=	NM_001174082.1:c.397+424_397+428del	NM_001174082.1:c.397+425_397+428del	NM_001174082.1:c.397+426_397+428del	NM_001174082.1:c.397+427_397+428del	NM_001174082.1:c.397+428del	NM_001174082.1:c.397+428dup	NM_001174082.1:c.397+427_397+428dup	NM_001174082.1:c.397+421_397+428dup
NLRP2 transcript variant 3	NM_001174082.3:c.397+412=	NM_001174082.3:c.397+424_397+428del	NM_001174082.3:c.397+425_397+428del	NM_001174082.3:c.397+426_397+428del	NM_001174082.3:c.397+427_397+428del	NM_001174082.3:c.397+428del	NM_001174082.3:c.397+428dup	NM_001174082.3:c.397+427_397+428dup	NM_001174082.3:c.397+421_397+428dup
NLRP2 transcript variant 4	NM_001174083.1:c.328+412=	NM_001174083.1:c.328+424_328+428del	NM_001174083.1:c.328+425_328+428del	NM_001174083.1:c.328+426_328+428del	NM_001174083.1:c.328+427_328+428del	NM_001174083.1:c.328+428del	NM_001174083.1:c.328+428dup	NM_001174083.1:c.328+427_328+428dup	NM_001174083.1:c.328+421_328+428dup
NLRP2 transcript variant 4	NM_001174083.2:c.328+412=	NM_001174083.2:c.328+424_328+428del	NM_001174083.2:c.328+425_328+428del	NM_001174083.2:c.328+426_328+428del	NM_001174083.2:c.328+427_328+428del	NM_001174083.2:c.328+428del	NM_001174083.2:c.328+428dup	NM_001174083.2:c.328+427_328+428dup	NM_001174083.2:c.328+421_328+428dup
NLRP2 transcript variant 5	NM_001348003.2:c.397+412=	NM_001348003.2:c.397+424_397+428del	NM_001348003.2:c.397+425_397+428del	NM_001348003.2:c.397+426_397+428del	NM_001348003.2:c.397+427_397+428del	NM_001348003.2:c.397+428del	NM_001348003.2:c.397+428dup	NM_001348003.2:c.397+427_397+428dup	NM_001348003.2:c.397+421_397+428dup
NLRP2 transcript variant 1	NM_017852.3:c.397+412=	NM_017852.3:c.397+424_397+428del	NM_017852.3:c.397+425_397+428del	NM_017852.3:c.397+426_397+428del	NM_017852.3:c.397+427_397+428del	NM_017852.3:c.397+428del	NM_017852.3:c.397+428dup	NM_017852.3:c.397+427_397+428dup	NM_017852.3:c.397+421_397+428dup
NLRP2 transcript variant 1	NM_017852.5:c.397+412=	NM_017852.5:c.397+424_397+428del	NM_017852.5:c.397+425_397+428del	NM_017852.5:c.397+426_397+428del	NM_017852.5:c.397+427_397+428del	NM_017852.5:c.397+428del	NM_017852.5:c.397+428dup	NM_017852.5:c.397+427_397+428dup	NM_017852.5:c.397+421_397+428dup
NLRP2 transcript variant X1	XM_005259050.1:c.397+412=	XM_005259050.1:c.397+424_397+428del	XM_005259050.1:c.397+425_397+428del	XM_005259050.1:c.397+426_397+428del	XM_005259050.1:c.397+427_397+428del	XM_005259050.1:c.397+428del	XM_005259050.1:c.397+428dup	XM_005259050.1:c.397+427_397+428dup	XM_005259050.1:c.397+421_397+428dup
NLRP2 transcript variant X2	XM_005277121.1:c.397+412=	XM_005277121.1:c.397+424_397+428del	XM_005277121.1:c.397+425_397+428del	XM_005277121.1:c.397+426_397+428del	XM_005277121.1:c.397+427_397+428del	XM_005277121.1:c.397+428del	XM_005277121.1:c.397+428dup	XM_005277121.1:c.397+427_397+428dup	XM_005277121.1:c.397+421_397+428dup
NLRP2 transcript variant X9	XM_005278284.1:c.397+412=	XM_005278284.1:c.397+424_397+428del	XM_005278284.1:c.397+425_397+428del	XM_005278284.1:c.397+426_397+428del	XM_005278284.1:c.397+427_397+428del	XM_005278284.1:c.397+428del	XM_005278284.1:c.397+428dup	XM_005278284.1:c.397+427_397+428dup	XM_005278284.1:c.397+421_397+428dup

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#.

44 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40967708	Mar 14, 2006 (126)
2	SSMP	ss664454162	Apr 01, 2015 (144)
3	BILGI_BIOE	ss666736048	Apr 25, 2013 (138)
4	SSIP	ss947397818	Aug 21, 2014 (142)
5	1000GENOMES	ss1378270176	Aug 21, 2014 (142)
6	SYSTEMSBIOZJU	ss2629367811	Nov 08, 2017 (151)
7	SWEGEN	ss3017690822	Nov 08, 2017 (151)
8	MCHAISSO	ss3063921537	Nov 08, 2017 (151)
9	MCHAISSO	ss3064770747	Nov 08, 2017 (151)
10	MCHAISSO	ss3065721019	Nov 08, 2017 (151)
11	EVA_DECODE	ss3703019541	Jul 13, 2019 (153)
12	EVA_DECODE	ss3703019542	Jul 13, 2019 (153)
13	EVA_DECODE	ss3703019543	Jul 13, 2019 (153)
14	EVA_DECODE	ss3703019544	Jul 13, 2019 (153)
15	PACBIO	ss3788567927	Jul 13, 2019 (153)
16	PACBIO	ss3793472400	Jul 13, 2019 (153)
17	PACBIO	ss3798359480	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3821462206	Jul 13, 2019 (153)
19	EVA	ss3835528556	Apr 27, 2020 (154)
20	EVA	ss3841387238	Apr 27, 2020 (154)
21	EVA	ss3846894302	Apr 27, 2020 (154)
22	VINODS	ss4033865606	Apr 27, 2021 (155)
23	GNOMAD	ss4333308678	Apr 27, 2021 (155)
24	GNOMAD	ss4333308679	Apr 27, 2021 (155)
25	GNOMAD	ss4333308681	Apr 27, 2021 (155)
26	GNOMAD	ss4333308682	Apr 27, 2021 (155)
27	GNOMAD	ss4333308683	Apr 27, 2021 (155)
28	GNOMAD	ss4333308684	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5228358333	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5228358334	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5228358335	Apr 27, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5307709708	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5307709709	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5307709710	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5500151132	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5500151133	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5500151134	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5787199054	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5787199055	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5787199056	Oct 16, 2022 (156)
41	EVA	ss5840726606	Oct 16, 2022 (156)
42	EVA	ss5840726607	Oct 16, 2022 (156)
43	EVA	ss5852339599	Oct 16, 2022 (156)
44	EVA	ss5981067793	Oct 16, 2022 (156)
45	1000Genomes	NC_000019.9 - 55489603	Oct 12, 2018 (152)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543514870 (NC_000019.10:54978234::T 153/120944) Row 543514871 (NC_000019.10:54978234::TT 1/120952) Row 543514873 (NC_000019.10:54978234:T: 71352/120792)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 86327640 (NC_000019.9:55489602:T: 13145/16742) Row 86327641 (NC_000019.9:55489602:TT: 31/16742) Row 86327642 (NC_000019.9:55489602::T 46/16742)	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 86327640 (NC_000019.9:55489602:T: 13145/16742) Row 86327641 (NC_000019.9:55489602:TT: 31/16742) Row 86327642 (NC_000019.9:55489602::T 46/16742)	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 86327640 (NC_000019.9:55489602:T: 13145/16742) Row 86327641 (NC_000019.9:55489602:TT: 31/16742) Row 86327642 (NC_000019.9:55489602::T 46/16742)	-	Apr 27, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 121036158 (NC_000019.10:54978234:T: 22157/28244) Row 121036159 (NC_000019.10:54978234:TT: 49/28244) Row 121036160 (NC_000019.10:54978234::T 64/28244)	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 121036158 (NC_000019.10:54978234:T: 22157/28244) Row 121036159 (NC_000019.10:54978234:TT: 49/28244) Row 121036160 (NC_000019.10:54978234::T 64/28244)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 121036158 (NC_000019.10:54978234:T: 22157/28244) Row 121036159 (NC_000019.10:54978234:TT: 49/28244) Row 121036160 (NC_000019.10:54978234::T 64/28244)	-	Oct 16, 2022 (156)
58	ALFA	NC_000019.10 - 54978235	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)
rs68013842	Jul 30, 2012 (137)
rs68013843	Feb 27, 2009 (130)
rs68013844	Feb 27, 2009 (130)
rs374222860	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4333308684	NC_000019.10:54978234:TTTT:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4333308683	NC_000019.10:54978234:TTT:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5228358334, ss5840726607	NC_000019.9:55489602:TT:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3703019541, ss4333308682, ss5307709709, ss5500151133, ss5787199055	NC_000019.10:54978234:TT:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
77073908, ss664454162, ss666736048, ss1378270176, ss2629367811, ss3017690822, ss3788567927, ss3793472400, ss3798359480, ss3835528556, ss3841387238, ss5228358333, ss5840726606, ss5981067793	NC_000019.9:55489602:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss947397818	NC_000019.9:55489603:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3063921537, ss3064770747, ss3065721019, ss3821462206, ss3846894302, ss4333308681, ss5307709708, ss5500151132, ss5787199054, ss5852339599	NC_000019.10:54978234:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3703019542	NC_000019.10:54978235:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss40967708	NT_011109.16:27757820:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4033865606	NW_003571059.2:896599:T:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5228358335	NC_000019.9:55489602::T	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4333308678, ss5307709710, ss5500151134, ss5787199056	NC_000019.10:54978234::T	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3703019543	NC_000019.10:54978236::T	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4333308679	NC_000019.10:54978234::TT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
13641073510	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3703019544	NC_000019.10:54978236::TTTTTTTT	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3296438414	NC_000019.10:54978234:TTTTT:	NC_000019.10:54978234:TTTTTTTTTTTT… NC_000019.10:54978234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

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

No publications for rs5828609

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

rs5828609