Name: rs757668995
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.

rs757668995

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54969478-54969497 (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)₁₁ / del(A)₉ / del(A)₈ / del…
del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.0677 (654/9666, ALFA)
delAA=0.15 (6/40, GENOME_DK)

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	9666	AAAAAAAAAAAAAAAAAAAA=0.9234	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0035, AAAAAAAAAAAAAAAAAA=0.0677, AAAAAAAAAAAAAAAAAAA=0.0037, AAAAAAAAAAAAAAAAAAAAA=0.0016, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.879493	0.015433	0.105074	32
European	Sub	8186	AAAAAAAAAAAAAAAAAAAA=0.9098	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0042, AAAAAAAAAAAAAAAAAA=0.0796, AAAAAAAAAAAAAAAAAAA=0.0044, AAAAAAAAAAAAAAAAAAAAA=0.0018, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.857644	0.018296	0.12406	32
African	Sub	1006	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	42	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	964	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	24	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	50	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	156	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	48	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	196	AAAAAAAAAAAAAAAAAAAA=0.990	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.010, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.979592	0.0	0.020408	0

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9666	(A)₂₀=0.9234	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0001, del(A)₄=0.0000, delAAA=0.0035, delAA=0.0677, delA=0.0037, dupA=0.0016, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	8186	(A)₂₀=0.9098	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0001, del(A)₄=0.0000, delAAA=0.0042, delAA=0.0796, delA=0.0044, dupA=0.0018, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	1006	(A)₂₀=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, 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	Other	Sub	196	(A)₂₀=0.990	del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.010, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	156	(A)₂₀=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, 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	Latin American 1	Sub	50	(A)₂₀=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, 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	48	(A)₂₀=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, 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	Asian	Sub	24	(A)₂₀=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, 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
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₀=0.85	delAA=0.15

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.54969487_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969489_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969490_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969491_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969492_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969493_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969494_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969495_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969496_54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969497del
GRCh38.p14 chr 19	NC_000019.10:g.54969497dup
GRCh38.p14 chr 19	NC_000019.10:g.54969496_54969497dup
GRCh38.p14 chr 19	NC_000019.10:g.54969495_54969497dup
GRCh38.p14 chr 19	NC_000019.10:g.54969494_54969497dup
GRCh38.p14 chr 19	NC_000019.10:g.54969493_54969497dup
GRCh38.p14 chr 19	NC_000019.10:g.54969490_54969497dup
GRCh37.p13 chr 19	NC_000019.9:g.55480855_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480857_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480858_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480859_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480860_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480861_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480862_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480863_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480864_55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480865del
GRCh37.p13 chr 19	NC_000019.9:g.55480865dup
GRCh37.p13 chr 19	NC_000019.9:g.55480864_55480865dup
GRCh37.p13 chr 19	NC_000019.9:g.55480863_55480865dup
GRCh37.p13 chr 19	NC_000019.9:g.55480862_55480865dup
GRCh37.p13 chr 19	NC_000019.9:g.55480861_55480865dup
GRCh37.p13 chr 19	NC_000019.9:g.55480858_55480865dup
NLRP2 RefSeqGene	NG_052633.1:g.21358_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21360_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21361_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21362_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21363_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21364_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21365_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21366_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21367_21368del
NLRP2 RefSeqGene	NG_052633.1:g.21368del
NLRP2 RefSeqGene	NG_052633.1:g.21368dup
NLRP2 RefSeqGene	NG_052633.1:g.21367_21368dup
NLRP2 RefSeqGene	NG_052633.1:g.21366_21368dup
NLRP2 RefSeqGene	NG_052633.1:g.21365_21368dup
NLRP2 RefSeqGene	NG_052633.1:g.21364_21368dup
NLRP2 RefSeqGene	NG_052633.1:g.21361_21368dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681648_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681650_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681651_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681652_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681653_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681654_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681655_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681656_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681657_681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681658del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681658dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681657_681658dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681656_681658dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681655_681658dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681654_681658dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681651_681658dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681647_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681649_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681650_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681651_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681652_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681653_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681654_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681655_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681656_681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681657del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681657dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681656_681657dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681655_681657dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681654_681657dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681653_681657dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681650_681657dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887852_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887854_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887855_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887856_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887857_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887858_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887859_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887860_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887861_887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887862del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887861_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887860_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887859_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887858_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887855_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951559_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951561_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951562_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951563_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951564_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951565_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951566_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951567_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951568_951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951569del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951568_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951567_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951566_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951565_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951562_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977010_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977012_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977013_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977014_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977015_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977016_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977017_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977018_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977019_977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977020del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977019_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977018_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977017_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977016_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977013_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949473_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949475_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949476_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949477_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949478_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949479_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949480_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949481_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949482_949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949483del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949482_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949481_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949480_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949479_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949476_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614689_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614691_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614692_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614693_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614694_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614695_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614696_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614697_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614698_614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614699del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614699dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614698_614699dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614697_614699dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614696_614699dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614695_614699dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614692_614699dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614688_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614690_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614691_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614692_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614693_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614694_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614695_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614696_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614697_614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614698del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614698dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614697_614698dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614696_614698dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614695_614698dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614694_614698dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614691_614698dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872885_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872887_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872888_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872889_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872890_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872891_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872892_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872893_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872894_872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872895del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872895dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872894_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872893_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872892_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872891_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872888_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951969_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951971_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951972_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951973_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951974_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951975_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951976_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951977_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951978_951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951979del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951979dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951978_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951977_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951976_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951975_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951972_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251T>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872242_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872244_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872245_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872246_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872247_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872248_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872249_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872250_872252del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251TA[1]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAA
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAAA
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAAAA
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAAAAA
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAAAAAA
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251delinsAAAAAAAAA
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943855_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943857_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943858_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943859_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943860_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943861_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943862_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943863_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943864_943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943865del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943865dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943864_943865dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943863_943865dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943862_943865dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943861_943865dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943858_943865dup

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.-17-512_… NM_001174081.3:c.-17-512_-17-502del	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.-17-512_… NM_001174082.3:c.-17-512_-17-502del	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.-17-512_… NM_001174083.2:c.-17-512_-17-502del	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.-17-512_… NM_001348003.2:c.-17-512_-17-502del	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.-17-512_-17… NM_017852.5:c.-17-512_-17-502del	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	(A)₂₀=	del(A)₁₁	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₈
GRCh38.p14 chr 19	NC_000019.10:g.54969478_54969497=	NC_000019.10:g.54969487_54969497del	NC_000019.10:g.54969489_54969497del	NC_000019.10:g.54969490_54969497del	NC_000019.10:g.54969491_54969497del	NC_000019.10:g.54969492_54969497del	NC_000019.10:g.54969493_54969497del	NC_000019.10:g.54969494_54969497del	NC_000019.10:g.54969495_54969497del	NC_000019.10:g.54969496_54969497del	NC_000019.10:g.54969497del	NC_000019.10:g.54969497dup	NC_000019.10:g.54969496_54969497dup	NC_000019.10:g.54969495_54969497dup	NC_000019.10:g.54969494_54969497dup	NC_000019.10:g.54969493_54969497dup	NC_000019.10:g.54969490_54969497dup
GRCh37.p13 chr 19	NC_000019.9:g.55480846_55480865=	NC_000019.9:g.55480855_55480865del	NC_000019.9:g.55480857_55480865del	NC_000019.9:g.55480858_55480865del	NC_000019.9:g.55480859_55480865del	NC_000019.9:g.55480860_55480865del	NC_000019.9:g.55480861_55480865del	NC_000019.9:g.55480862_55480865del	NC_000019.9:g.55480863_55480865del	NC_000019.9:g.55480864_55480865del	NC_000019.9:g.55480865del	NC_000019.9:g.55480865dup	NC_000019.9:g.55480864_55480865dup	NC_000019.9:g.55480863_55480865dup	NC_000019.9:g.55480862_55480865dup	NC_000019.9:g.55480861_55480865dup	NC_000019.9:g.55480858_55480865dup
NLRP2 RefSeqGene	NG_052633.1:g.21349_21368=	NG_052633.1:g.21358_21368del	NG_052633.1:g.21360_21368del	NG_052633.1:g.21361_21368del	NG_052633.1:g.21362_21368del	NG_052633.1:g.21363_21368del	NG_052633.1:g.21364_21368del	NG_052633.1:g.21365_21368del	NG_052633.1:g.21366_21368del	NG_052633.1:g.21367_21368del	NG_052633.1:g.21368del	NG_052633.1:g.21368dup	NG_052633.1:g.21367_21368dup	NG_052633.1:g.21366_21368dup	NG_052633.1:g.21365_21368dup	NG_052633.1:g.21364_21368dup	NG_052633.1:g.21361_21368dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.681639_681658=	NW_003571061.2:g.681648_681658del	NW_003571061.2:g.681650_681658del	NW_003571061.2:g.681651_681658del	NW_003571061.2:g.681652_681658del	NW_003571061.2:g.681653_681658del	NW_003571061.2:g.681654_681658del	NW_003571061.2:g.681655_681658del	NW_003571061.2:g.681656_681658del	NW_003571061.2:g.681657_681658del	NW_003571061.2:g.681658del	NW_003571061.2:g.681658dup	NW_003571061.2:g.681657_681658dup	NW_003571061.2:g.681656_681658dup	NW_003571061.2:g.681655_681658dup	NW_003571061.2:g.681654_681658dup	NW_003571061.2:g.681651_681658dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.681638_681657=	NW_003571061.1:g.681647_681657del	NW_003571061.1:g.681649_681657del	NW_003571061.1:g.681650_681657del	NW_003571061.1:g.681651_681657del	NW_003571061.1:g.681652_681657del	NW_003571061.1:g.681653_681657del	NW_003571061.1:g.681654_681657del	NW_003571061.1:g.681655_681657del	NW_003571061.1:g.681656_681657del	NW_003571061.1:g.681657del	NW_003571061.1:g.681657dup	NW_003571061.1:g.681656_681657dup	NW_003571061.1:g.681655_681657dup	NW_003571061.1:g.681654_681657dup	NW_003571061.1:g.681653_681657dup	NW_003571061.1:g.681650_681657dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.887843_887862=	NW_003571059.2:g.887852_887862del	NW_003571059.2:g.887854_887862del	NW_003571059.2:g.887855_887862del	NW_003571059.2:g.887856_887862del	NW_003571059.2:g.887857_887862del	NW_003571059.2:g.887858_887862del	NW_003571059.2:g.887859_887862del	NW_003571059.2:g.887860_887862del	NW_003571059.2:g.887861_887862del	NW_003571059.2:g.887862del	NW_003571059.2:g.887862dup	NW_003571059.2:g.887861_887862dup	NW_003571059.2:g.887860_887862dup	NW_003571059.2:g.887859_887862dup	NW_003571059.2:g.887858_887862dup	NW_003571059.2:g.887855_887862dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.951550_951569=	NW_003571058.2:g.951559_951569del	NW_003571058.2:g.951561_951569del	NW_003571058.2:g.951562_951569del	NW_003571058.2:g.951563_951569del	NW_003571058.2:g.951564_951569del	NW_003571058.2:g.951565_951569del	NW_003571058.2:g.951566_951569del	NW_003571058.2:g.951567_951569del	NW_003571058.2:g.951568_951569del	NW_003571058.2:g.951569del	NW_003571058.2:g.951569dup	NW_003571058.2:g.951568_951569dup	NW_003571058.2:g.951567_951569dup	NW_003571058.2:g.951566_951569dup	NW_003571058.2:g.951565_951569dup	NW_003571058.2:g.951562_951569dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.977001_977020=	NW_003571057.2:g.977010_977020del	NW_003571057.2:g.977012_977020del	NW_003571057.2:g.977013_977020del	NW_003571057.2:g.977014_977020del	NW_003571057.2:g.977015_977020del	NW_003571057.2:g.977016_977020del	NW_003571057.2:g.977017_977020del	NW_003571057.2:g.977018_977020del	NW_003571057.2:g.977019_977020del	NW_003571057.2:g.977020del	NW_003571057.2:g.977020dup	NW_003571057.2:g.977019_977020dup	NW_003571057.2:g.977018_977020dup	NW_003571057.2:g.977017_977020dup	NW_003571057.2:g.977016_977020dup	NW_003571057.2:g.977013_977020dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.949464_949483=	NW_003571056.2:g.949473_949483del	NW_003571056.2:g.949475_949483del	NW_003571056.2:g.949476_949483del	NW_003571056.2:g.949477_949483del	NW_003571056.2:g.949478_949483del	NW_003571056.2:g.949479_949483del	NW_003571056.2:g.949480_949483del	NW_003571056.2:g.949481_949483del	NW_003571056.2:g.949482_949483del	NW_003571056.2:g.949483del	NW_003571056.2:g.949483dup	NW_003571056.2:g.949482_949483dup	NW_003571056.2:g.949481_949483dup	NW_003571056.2:g.949480_949483dup	NW_003571056.2:g.949479_949483dup	NW_003571056.2:g.949476_949483dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.614680_614699=	NW_003571055.2:g.614689_614699del	NW_003571055.2:g.614691_614699del	NW_003571055.2:g.614692_614699del	NW_003571055.2:g.614693_614699del	NW_003571055.2:g.614694_614699del	NW_003571055.2:g.614695_614699del	NW_003571055.2:g.614696_614699del	NW_003571055.2:g.614697_614699del	NW_003571055.2:g.614698_614699del	NW_003571055.2:g.614699del	NW_003571055.2:g.614699dup	NW_003571055.2:g.614698_614699dup	NW_003571055.2:g.614697_614699dup	NW_003571055.2:g.614696_614699dup	NW_003571055.2:g.614695_614699dup	NW_003571055.2:g.614692_614699dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.614679_614698=	NW_003571055.1:g.614688_614698del	NW_003571055.1:g.614690_614698del	NW_003571055.1:g.614691_614698del	NW_003571055.1:g.614692_614698del	NW_003571055.1:g.614693_614698del	NW_003571055.1:g.614694_614698del	NW_003571055.1:g.614695_614698del	NW_003571055.1:g.614696_614698del	NW_003571055.1:g.614697_614698del	NW_003571055.1:g.614698del	NW_003571055.1:g.614698dup	NW_003571055.1:g.614697_614698dup	NW_003571055.1:g.614696_614698dup	NW_003571055.1:g.614695_614698dup	NW_003571055.1:g.614694_614698dup	NW_003571055.1:g.614691_614698dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.872876_872895=	NW_003571054.1:g.872885_872895del	NW_003571054.1:g.872887_872895del	NW_003571054.1:g.872888_872895del	NW_003571054.1:g.872889_872895del	NW_003571054.1:g.872890_872895del	NW_003571054.1:g.872891_872895del	NW_003571054.1:g.872892_872895del	NW_003571054.1:g.872893_872895del	NW_003571054.1:g.872894_872895del	NW_003571054.1:g.872895del	NW_003571054.1:g.872895dup	NW_003571054.1:g.872894_872895dup	NW_003571054.1:g.872893_872895dup	NW_003571054.1:g.872892_872895dup	NW_003571054.1:g.872891_872895dup	NW_003571054.1:g.872888_872895dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.951960_951979=	NT_187693.1:g.951969_951979del	NT_187693.1:g.951971_951979del	NT_187693.1:g.951972_951979del	NT_187693.1:g.951973_951979del	NT_187693.1:g.951974_951979del	NT_187693.1:g.951975_951979del	NT_187693.1:g.951976_951979del	NT_187693.1:g.951977_951979del	NT_187693.1:g.951978_951979del	NT_187693.1:g.951979del	NT_187693.1:g.951979dup	NT_187693.1:g.951978_951979dup	NT_187693.1:g.951977_951979dup	NT_187693.1:g.951976_951979dup	NT_187693.1:g.951975_951979dup	NT_187693.1:g.951972_951979dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.872251T>A	NW_003571060.1:g.872242_872252del	NW_003571060.1:g.872244_872252del	NW_003571060.1:g.872245_872252del	NW_003571060.1:g.872246_872252del	NW_003571060.1:g.872247_872252del	NW_003571060.1:g.872248_872252del	NW_003571060.1:g.872249_872252del	NW_003571060.1:g.872250_872252del	NW_003571060.1:g.872251TA[1]	NW_003571060.1:g.872251del	NW_003571060.1:g.872251delinsAA	NW_003571060.1:g.872251delinsAAA	NW_003571060.1:g.872251delinsAAAA	NW_003571060.1:g.872251delinsAAAAA	NW_003571060.1:g.872251delinsAAAAAA	NW_003571060.1:g.872251delinsAAAAAAAAA
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.943846_943865=	NW_004166865.1:g.943855_943865del	NW_004166865.1:g.943857_943865del	NW_004166865.1:g.943858_943865del	NW_004166865.1:g.943859_943865del	NW_004166865.1:g.943860_943865del	NW_004166865.1:g.943861_943865del	NW_004166865.1:g.943862_943865del	NW_004166865.1:g.943863_943865del	NW_004166865.1:g.943864_943865del	NW_004166865.1:g.943865del	NW_004166865.1:g.943865dup	NW_004166865.1:g.943864_943865dup	NW_004166865.1:g.943863_943865dup	NW_004166865.1:g.943862_943865dup	NW_004166865.1:g.943861_943865dup	NW_004166865.1:g.943858_943865dup
NLRP2 transcript variant 2	NM_001174081.1:c.-17-521=	NM_001174081.1:c.-17-512_-17-502del	NM_001174081.1:c.-17-510_-17-502del	NM_001174081.1:c.-17-509_-17-502del	NM_001174081.1:c.-17-508_-17-502del	NM_001174081.1:c.-17-507_-17-502del	NM_001174081.1:c.-17-506_-17-502del	NM_001174081.1:c.-17-505_-17-502del	NM_001174081.1:c.-17-504_-17-502del	NM_001174081.1:c.-17-503_-17-502del	NM_001174081.1:c.-17-502del	NM_001174081.1:c.-17-502dup	NM_001174081.1:c.-17-503_-17-502dup	NM_001174081.1:c.-17-504_-17-502dup	NM_001174081.1:c.-17-505_-17-502dup	NM_001174081.1:c.-17-506_-17-502dup	NM_001174081.1:c.-17-509_-17-502dup
NLRP2 transcript variant 2	NM_001174081.3:c.-17-521=	NM_001174081.3:c.-17-512_-17-502del	NM_001174081.3:c.-17-510_-17-502del	NM_001174081.3:c.-17-509_-17-502del	NM_001174081.3:c.-17-508_-17-502del	NM_001174081.3:c.-17-507_-17-502del	NM_001174081.3:c.-17-506_-17-502del	NM_001174081.3:c.-17-505_-17-502del	NM_001174081.3:c.-17-504_-17-502del	NM_001174081.3:c.-17-503_-17-502del	NM_001174081.3:c.-17-502del	NM_001174081.3:c.-17-502dup	NM_001174081.3:c.-17-503_-17-502dup	NM_001174081.3:c.-17-504_-17-502dup	NM_001174081.3:c.-17-505_-17-502dup	NM_001174081.3:c.-17-506_-17-502dup	NM_001174081.3:c.-17-509_-17-502dup
NLRP2 transcript variant 3	NM_001174082.1:c.-17-521=	NM_001174082.1:c.-17-512_-17-502del	NM_001174082.1:c.-17-510_-17-502del	NM_001174082.1:c.-17-509_-17-502del	NM_001174082.1:c.-17-508_-17-502del	NM_001174082.1:c.-17-507_-17-502del	NM_001174082.1:c.-17-506_-17-502del	NM_001174082.1:c.-17-505_-17-502del	NM_001174082.1:c.-17-504_-17-502del	NM_001174082.1:c.-17-503_-17-502del	NM_001174082.1:c.-17-502del	NM_001174082.1:c.-17-502dup	NM_001174082.1:c.-17-503_-17-502dup	NM_001174082.1:c.-17-504_-17-502dup	NM_001174082.1:c.-17-505_-17-502dup	NM_001174082.1:c.-17-506_-17-502dup	NM_001174082.1:c.-17-509_-17-502dup
NLRP2 transcript variant 3	NM_001174082.3:c.-17-521=	NM_001174082.3:c.-17-512_-17-502del	NM_001174082.3:c.-17-510_-17-502del	NM_001174082.3:c.-17-509_-17-502del	NM_001174082.3:c.-17-508_-17-502del	NM_001174082.3:c.-17-507_-17-502del	NM_001174082.3:c.-17-506_-17-502del	NM_001174082.3:c.-17-505_-17-502del	NM_001174082.3:c.-17-504_-17-502del	NM_001174082.3:c.-17-503_-17-502del	NM_001174082.3:c.-17-502del	NM_001174082.3:c.-17-502dup	NM_001174082.3:c.-17-503_-17-502dup	NM_001174082.3:c.-17-504_-17-502dup	NM_001174082.3:c.-17-505_-17-502dup	NM_001174082.3:c.-17-506_-17-502dup	NM_001174082.3:c.-17-509_-17-502dup
NLRP2 transcript variant 4	NM_001174083.1:c.-17-521=	NM_001174083.1:c.-17-512_-17-502del	NM_001174083.1:c.-17-510_-17-502del	NM_001174083.1:c.-17-509_-17-502del	NM_001174083.1:c.-17-508_-17-502del	NM_001174083.1:c.-17-507_-17-502del	NM_001174083.1:c.-17-506_-17-502del	NM_001174083.1:c.-17-505_-17-502del	NM_001174083.1:c.-17-504_-17-502del	NM_001174083.1:c.-17-503_-17-502del	NM_001174083.1:c.-17-502del	NM_001174083.1:c.-17-502dup	NM_001174083.1:c.-17-503_-17-502dup	NM_001174083.1:c.-17-504_-17-502dup	NM_001174083.1:c.-17-505_-17-502dup	NM_001174083.1:c.-17-506_-17-502dup	NM_001174083.1:c.-17-509_-17-502dup
NLRP2 transcript variant 4	NM_001174083.2:c.-17-521=	NM_001174083.2:c.-17-512_-17-502del	NM_001174083.2:c.-17-510_-17-502del	NM_001174083.2:c.-17-509_-17-502del	NM_001174083.2:c.-17-508_-17-502del	NM_001174083.2:c.-17-507_-17-502del	NM_001174083.2:c.-17-506_-17-502del	NM_001174083.2:c.-17-505_-17-502del	NM_001174083.2:c.-17-504_-17-502del	NM_001174083.2:c.-17-503_-17-502del	NM_001174083.2:c.-17-502del	NM_001174083.2:c.-17-502dup	NM_001174083.2:c.-17-503_-17-502dup	NM_001174083.2:c.-17-504_-17-502dup	NM_001174083.2:c.-17-505_-17-502dup	NM_001174083.2:c.-17-506_-17-502dup	NM_001174083.2:c.-17-509_-17-502dup
NLRP2 transcript variant 5	NM_001348003.2:c.-17-521=	NM_001348003.2:c.-17-512_-17-502del	NM_001348003.2:c.-17-510_-17-502del	NM_001348003.2:c.-17-509_-17-502del	NM_001348003.2:c.-17-508_-17-502del	NM_001348003.2:c.-17-507_-17-502del	NM_001348003.2:c.-17-506_-17-502del	NM_001348003.2:c.-17-505_-17-502del	NM_001348003.2:c.-17-504_-17-502del	NM_001348003.2:c.-17-503_-17-502del	NM_001348003.2:c.-17-502del	NM_001348003.2:c.-17-502dup	NM_001348003.2:c.-17-503_-17-502dup	NM_001348003.2:c.-17-504_-17-502dup	NM_001348003.2:c.-17-505_-17-502dup	NM_001348003.2:c.-17-506_-17-502dup	NM_001348003.2:c.-17-509_-17-502dup
NLRP2 transcript variant 1	NM_017852.3:c.-17-521=	NM_017852.3:c.-17-512_-17-502del	NM_017852.3:c.-17-510_-17-502del	NM_017852.3:c.-17-509_-17-502del	NM_017852.3:c.-17-508_-17-502del	NM_017852.3:c.-17-507_-17-502del	NM_017852.3:c.-17-506_-17-502del	NM_017852.3:c.-17-505_-17-502del	NM_017852.3:c.-17-504_-17-502del	NM_017852.3:c.-17-503_-17-502del	NM_017852.3:c.-17-502del	NM_017852.3:c.-17-502dup	NM_017852.3:c.-17-503_-17-502dup	NM_017852.3:c.-17-504_-17-502dup	NM_017852.3:c.-17-505_-17-502dup	NM_017852.3:c.-17-506_-17-502dup	NM_017852.3:c.-17-509_-17-502dup
NLRP2 transcript variant 1	NM_017852.5:c.-17-521=	NM_017852.5:c.-17-512_-17-502del	NM_017852.5:c.-17-510_-17-502del	NM_017852.5:c.-17-509_-17-502del	NM_017852.5:c.-17-508_-17-502del	NM_017852.5:c.-17-507_-17-502del	NM_017852.5:c.-17-506_-17-502del	NM_017852.5:c.-17-505_-17-502del	NM_017852.5:c.-17-504_-17-502del	NM_017852.5:c.-17-503_-17-502del	NM_017852.5:c.-17-502del	NM_017852.5:c.-17-502dup	NM_017852.5:c.-17-503_-17-502dup	NM_017852.5:c.-17-504_-17-502dup	NM_017852.5:c.-17-505_-17-502dup	NM_017852.5:c.-17-506_-17-502dup	NM_017852.5:c.-17-509_-17-502dup
NLRP2 transcript variant X1	XM_005259050.1:c.-17-521=	XM_005259050.1:c.-17-512_-17-502del	XM_005259050.1:c.-17-510_-17-502del	XM_005259050.1:c.-17-509_-17-502del	XM_005259050.1:c.-17-508_-17-502del	XM_005259050.1:c.-17-507_-17-502del	XM_005259050.1:c.-17-506_-17-502del	XM_005259050.1:c.-17-505_-17-502del	XM_005259050.1:c.-17-504_-17-502del	XM_005259050.1:c.-17-503_-17-502del	XM_005259050.1:c.-17-502del	XM_005259050.1:c.-17-502dup	XM_005259050.1:c.-17-503_-17-502dup	XM_005259050.1:c.-17-504_-17-502dup	XM_005259050.1:c.-17-505_-17-502dup	XM_005259050.1:c.-17-506_-17-502dup	XM_005259050.1:c.-17-509_-17-502dup
NLRP2 transcript variant X2	XM_005277121.1:c.-17-521=	XM_005277121.1:c.-17-512_-17-502del	XM_005277121.1:c.-17-510_-17-502del	XM_005277121.1:c.-17-509_-17-502del	XM_005277121.1:c.-17-508_-17-502del	XM_005277121.1:c.-17-507_-17-502del	XM_005277121.1:c.-17-506_-17-502del	XM_005277121.1:c.-17-505_-17-502del	XM_005277121.1:c.-17-504_-17-502del	XM_005277121.1:c.-17-503_-17-502del	XM_005277121.1:c.-17-502del	XM_005277121.1:c.-17-502dup	XM_005277121.1:c.-17-503_-17-502dup	XM_005277121.1:c.-17-504_-17-502dup	XM_005277121.1:c.-17-505_-17-502dup	XM_005277121.1:c.-17-506_-17-502dup	XM_005277121.1:c.-17-509_-17-502dup
NLRP2 transcript variant X9	XM_005278284.1:c.-17-521=	XM_005278284.1:c.-17-512_-17-502del	XM_005278284.1:c.-17-510_-17-502del	XM_005278284.1:c.-17-509_-17-502del	XM_005278284.1:c.-17-508_-17-502del	XM_005278284.1:c.-17-507_-17-502del	XM_005278284.1:c.-17-506_-17-502del	XM_005278284.1:c.-17-505_-17-502del	XM_005278284.1:c.-17-504_-17-502del	XM_005278284.1:c.-17-503_-17-502del	XM_005278284.1:c.-17-502del	XM_005278284.1:c.-17-502dup	XM_005278284.1:c.-17-503_-17-502dup	XM_005278284.1:c.-17-504_-17-502dup	XM_005278284.1:c.-17-505_-17-502dup	XM_005278284.1:c.-17-506_-17-502dup	XM_005278284.1:c.-17-509_-17-502dup

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	EVA_GENOME_DK	ss1575316089	Apr 01, 2015 (144)
2	EVA_UK10K_TWINSUK	ss1709252807	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1709252812	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1710799587	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1710799588	Apr 01, 2015 (144)
6	SWEGEN	ss3017690613	Nov 08, 2017 (151)
7	MCHAISSO	ss3064770736	Nov 08, 2017 (151)
8	MCHAISSO	ss3064770737	Nov 08, 2017 (151)
9	MCHAISSO	ss3065721010	Nov 08, 2017 (151)
10	EVA_DECODE	ss3703019313	Jul 13, 2019 (153)
11	EVA_DECODE	ss3703019314	Jul 13, 2019 (153)
12	EVA_DECODE	ss3703019315	Jul 13, 2019 (153)
13	EVA_DECODE	ss3703019316	Jul 13, 2019 (153)
14	INMEGENXS	ss3745632438	Jul 13, 2019 (153)
15	PACBIO	ss3788567909	Jul 13, 2019 (153)
16	PACBIO	ss3793472383	Jul 13, 2019 (153)
17	PACBIO	ss3793472384	Jul 13, 2019 (153)
18	PACBIO	ss3798359464	Jul 13, 2019 (153)
19	EVA	ss3835528490	Apr 27, 2020 (154)
20	GNOMAD	ss4333306881	Apr 27, 2021 (155)
21	GNOMAD	ss4333306882	Apr 27, 2021 (155)
22	GNOMAD	ss4333306883	Apr 27, 2021 (155)
23	GNOMAD	ss4333306884	Apr 27, 2021 (155)
24	GNOMAD	ss4333306885	Apr 27, 2021 (155)
25	GNOMAD	ss4333306887	Apr 27, 2021 (155)
26	GNOMAD	ss4333306888	Apr 27, 2021 (155)
27	GNOMAD	ss4333306889	Apr 27, 2021 (155)
28	GNOMAD	ss4333306890	Apr 27, 2021 (155)
29	GNOMAD	ss4333306891	Apr 27, 2021 (155)
30	GNOMAD	ss4333306892	Apr 27, 2021 (155)
31	TOPMED	ss5078751550	Apr 27, 2021 (155)
32	TOPMED	ss5078751551	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5228357764	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5228357765	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5228357766	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5228357767	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5228357768	Apr 27, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5307709273	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5307709274	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5307709275	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5307709276	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5307709277	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5307709278	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5500150781	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5500150782	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5500150783	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5500150784	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5500150785	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5787198328	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5787198329	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5787198330	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5787198331	Oct 16, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42661598 (NC_000019.9:55480846:A: 1596/3854) Row 42661599 (NC_000019.9:55480845:AAA: 792/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42661598 (NC_000019.9:55480846:A: 1596/3854) Row 42661599 (NC_000019.9:55480845:AAA: 792/3854)	-	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000019.9 - 55480846	Apr 27, 2020 (154)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543511849 (NC_000019.10:54969477::A 3772/86520) Row 543511850 (NC_000019.10:54969477::AA 171/86598) Row 543511851 (NC_000019.10:54969477::AAAA 1/86624)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 86327071 (NC_000019.9:55480845:AA: 4157/16686) Row 86327072 (NC_000019.9:55480845:AAA: 35/16686) Row 86327073 (NC_000019.9:55480845:A: 198/16686)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 86327071 (NC_000019.9:55480845:AA: 4157/16686) Row 86327072 (NC_000019.9:55480845:AAA: 35/16686) Row 86327073 (NC_000019.9:55480845:A: 198/16686)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 86327071 (NC_000019.9:55480845:AA: 4157/16686) Row 86327072 (NC_000019.9:55480845:AAA: 35/16686) Row 86327073 (NC_000019.9:55480845:A: 198/16686)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 86327071 (NC_000019.9:55480845:AA: 4157/16686) Row 86327072 (NC_000019.9:55480845:AAA: 35/16686) Row 86327073 (NC_000019.9:55480845:A: 198/16686)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 86327071 (NC_000019.9:55480845:AA: 4157/16686) Row 86327072 (NC_000019.9:55480845:AAA: 35/16686) Row 86327073 (NC_000019.9:55480845:A: 198/16686)...	-	Apr 27, 2021 (155)
72	14KJPN Submission ignored due to conflicting rows: Row 121035432 (NC_000019.10:54969477:AA: 7171/27840) Row 121035433 (NC_000019.10:54969477:A: 345/27840) Row 121035434 (NC_000019.10:54969477:AAA: 63/27840)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 121035432 (NC_000019.10:54969477:AA: 7171/27840) Row 121035433 (NC_000019.10:54969477:A: 345/27840) Row 121035434 (NC_000019.10:54969477:AAA: 63/27840)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 121035432 (NC_000019.10:54969477:AA: 7171/27840) Row 121035433 (NC_000019.10:54969477:A: 345/27840) Row 121035434 (NC_000019.10:54969477:AAA: 63/27840)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 121035432 (NC_000019.10:54969477:AA: 7171/27840) Row 121035433 (NC_000019.10:54969477:A: 345/27840) Row 121035434 (NC_000019.10:54969477:AAA: 63/27840)...	-	Oct 16, 2022 (156)
76	TopMed Submission ignored due to conflicting rows: Row 294297214 (NC_000019.10:54969477:AAAAAAAA: 1/264690) Row 294297215 (NC_000019.10:54969477:AAAAAAAAA: 1/264690)	-	Apr 27, 2021 (155)
77	TopMed Submission ignored due to conflicting rows: Row 294297214 (NC_000019.10:54969477:AAAAAAAA: 1/264690) Row 294297215 (NC_000019.10:54969477:AAAAAAAAA: 1/264690)	-	Apr 27, 2021 (155)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42661598 (NC_000019.9:55480846:A: 1587/3708) Row 42661599 (NC_000019.9:55480845:AAA: 713/3708)	-	Oct 12, 2018 (152)
79	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42661598 (NC_000019.9:55480846:A: 1587/3708) Row 42661599 (NC_000019.9:55480845:AAA: 713/3708)	-	Oct 12, 2018 (152)
80	ALFA	NC_000019.10 - 54969478	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5228357768	NC_000019.9:55480845:AAAAAAAAAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss5078751551	NC_000019.10:54969477:AAAAAAAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5078751550	NC_000019.10:54969477:AAAAAAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4333306892	NC_000019.10:54969477:AAAAAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4333306891, ss5307709278, ss5500150785	NC_000019.10:54969477:AAAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3065721010, ss4333306890, ss5307709276	NC_000019.10:54969477:AAAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1709252807, ss1709252812, ss3017690613, ss3788567909, ss5228357765	NC_000019.9:55480845:AAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3064770736, ss3703019316, ss4333306889, ss5307709277, ss5500150784, ss5787198330	NC_000019.10:54969477:AAA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
642133, ss1575316089, ss3793472383, ss3798359464, ss3835528490, ss5228357764	NC_000019.9:55480845:AA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710799587, ss1710799588, ss3745632438	NC_000019.9:55480846:AA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3064770737, ss4333306888, ss5307709273, ss5500150782, ss5787198328	NC_000019.10:54969477:AA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3703019315	NC_000019.10:54969478:AA:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3793472384, ss5228357766	NC_000019.9:55480845:A:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
	NC_000019.9:55480846:A:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333306887, ss5307709274, ss5500150781, ss5787198329	NC_000019.10:54969477:A:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3703019314	NC_000019.10:54969479:A:	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5228357767	NC_000019.9:55480845::A	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4333306881, ss5307709275, ss5500150783, ss5787198331	NC_000019.10:54969477::A	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3703019313	NC_000019.10:54969480::A	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4333306882	NC_000019.10:54969477::AA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333306883	NC_000019.10:54969477::AAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
343887292	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333306884	NC_000019.10:54969477::AAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4333306885	NC_000019.10:54969477::AAAAAAAA	NC_000019.10:54969477:AAAAAAAAAAAA… NC_000019.10:54969477:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs757668995

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs757668995