Name: rs35241109
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.

rs35241109

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54989981-54989996 (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)₈ / del(A)₄ / delAAA / delAA…
del(A)₈ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₈=0.000004 (1/264690, TOPMED)
delA=0.16931 (2601/15362, ALFA)
delA=0.4313 (2160/5008, 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	15362	AAAAAAAAAAAAAAAA=0.67407	AAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.01282, AAAAAAAAAAAAAAAAA=0.12746, AAAAAAAAAAAAAAAAAA=0.01367, AAAAAAAAAAAAAAA=0.16931, AAAAAAAAAAAAAAAAAAA=0.00241, AAAAAAAAAAAAAAAAAAAA=0.00026	0.607336	0.003538	0.389127	32
European	Sub	10640	AAAAAAAAAAAAAAAA=0.67444	AAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.01297, AAAAAAAAAAAAAAAAA=0.12641, AAAAAAAAAAAAAAAAAA=0.01400, AAAAAAAAAAAAAAA=0.17021, AAAAAAAAAAAAAAAAAAA=0.00169, AAAAAAAAAAAAAAAAAAAA=0.00028	0.610011	0.004818	0.385171	32
African	Sub	1796	AAAAAAAAAAAAAAAA=0.8151	AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0072, AAAAAAAAAAAAAAAAA=0.0713, AAAAAAAAAAAAAAAAAA=0.0050, AAAAAAAAAAAAAAA=0.0997, AAAAAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAAAAA=0.0000	0.807181	0.00133	0.191489	4
African Others	Sub	68	AAAAAAAAAAAAAAAA=0.91	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.07, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	0.878788	0.0	0.121212	0
African American	Sub	1728	AAAAAAAAAAAAAAAA=0.8113	AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0075, AAAAAAAAAAAAAAAAA=0.0735, AAAAAAAAAAAAAAAAAA=0.0052, AAAAAAAAAAAAAAA=0.1007, AAAAAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAAAAA=0.0000	0.803894	0.001391	0.194715	4
Asian	Sub	132	AAAAAAAAAAAAAAAA=0.788	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAAAA=0.053, AAAAAAAAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAA=0.144, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	0.689655	0.0	0.310345	1
East Asian	Sub	82	AAAAAAAAAAAAAAAA=0.84	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.11, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	0.763158	0.0	0.236842	0
Other Asian	Sub	50	AAAAAAAAAAAAAAAA=0.70	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.02, AAAAAAAAAAAAAAAAA=0.06, AAAAAAAAAAAAAAAAAA=0.02, AAAAAAAAAAAAAAA=0.20, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	0.55	0.0	0.45	1
Latin American 1	Sub	54	AAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	208	AAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	58	AAAAAAAAAAAAAAAA=0.98	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.02, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	0.965517	0.0	0.034483	0
Other	Sub	2474	AAAAAAAAAAAAAAAA=0.5222	AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0182, AAAAAAAAAAAAAAAAA=0.1932, AAAAAAAAAAAAAAAAAA=0.0206, AAAAAAAAAAAAAAA=0.2389, AAAAAAAAAAAAAAAAAAA=0.0065, AAAAAAAAAAAAAAAAAAAA=0.0004	0.266165	0.0	0.733835	32

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₆=0.999996	del(A)₈=0.000004
Allele Frequency Aggregator	Total	Global	15362	(A)₁₆=0.67407	del(A)₈=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.01282, delA=0.16931, dupA=0.12746, dupAA=0.01367, dupAAA=0.00241, dup(A)₄=0.00026
Allele Frequency Aggregator	European	Sub	10640	(A)₁₆=0.67444	del(A)₈=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.01297, delA=0.17021, dupA=0.12641, dupAA=0.01400, dupAAA=0.00169, dup(A)₄=0.00028
Allele Frequency Aggregator	Other	Sub	2474	(A)₁₆=0.5222	del(A)₈=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0182, delA=0.2389, dupA=0.1932, dupAA=0.0206, dupAAA=0.0065, dup(A)₄=0.0004
Allele Frequency Aggregator	African	Sub	1796	(A)₁₆=0.8151	del(A)₈=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0072, delA=0.0997, dupA=0.0713, dupAA=0.0050, dupAAA=0.0017, dup(A)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	208	(A)₁₆=1.000	del(A)₈=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	Asian	Sub	132	(A)₁₆=0.788	del(A)₈=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.008, delA=0.144, dupA=0.053, dupAA=0.008, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	58	(A)₁₆=0.98	del(A)₈=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.02, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	54	(A)₁₆=1.00	del(A)₈=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
1000Genomes	Global	Study-wide	5008	(A)₁₆=0.5687	delA=0.4313
1000Genomes	African	Sub	1322	(A)₁₆=0.5673	delA=0.4327
1000Genomes	East Asian	Sub	1008	(A)₁₆=0.5536	delA=0.4464
1000Genomes	Europe	Sub	1006	(A)₁₆=0.6163	delA=0.3837
1000Genomes	South Asian	Sub	978	(A)₁₆=0.553	delA=0.447
1000Genomes	American	Sub	694	(A)₁₆=0.546	delA=0.454

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.54989989_54989996del
GRCh38.p14 chr 19	NC_000019.10:g.54989993_54989996del
GRCh38.p14 chr 19	NC_000019.10:g.54989994_54989996del
GRCh38.p14 chr 19	NC_000019.10:g.54989995_54989996del
GRCh38.p14 chr 19	NC_000019.10:g.54989996del
GRCh38.p14 chr 19	NC_000019.10:g.54989996dup
GRCh38.p14 chr 19	NC_000019.10:g.54989995_54989996dup
GRCh38.p14 chr 19	NC_000019.10:g.54989994_54989996dup
GRCh38.p14 chr 19	NC_000019.10:g.54989993_54989996dup
GRCh38.p14 chr 19	NC_000019.10:g.54989988_54989996dup
GRCh37.p13 chr 19	NC_000019.9:g.55501357_55501364del
GRCh37.p13 chr 19	NC_000019.9:g.55501361_55501364del
GRCh37.p13 chr 19	NC_000019.9:g.55501362_55501364del
GRCh37.p13 chr 19	NC_000019.9:g.55501363_55501364del
GRCh37.p13 chr 19	NC_000019.9:g.55501364del
GRCh37.p13 chr 19	NC_000019.9:g.55501364dup
GRCh37.p13 chr 19	NC_000019.9:g.55501363_55501364dup
GRCh37.p13 chr 19	NC_000019.9:g.55501362_55501364dup
GRCh37.p13 chr 19	NC_000019.9:g.55501361_55501364dup
GRCh37.p13 chr 19	NC_000019.9:g.55501356_55501364dup
NLRP2 RefSeqGene	NG_052633.1:g.41860_41867del
NLRP2 RefSeqGene	NG_052633.1:g.41864_41867del
NLRP2 RefSeqGene	NG_052633.1:g.41865_41867del
NLRP2 RefSeqGene	NG_052633.1:g.41866_41867del
NLRP2 RefSeqGene	NG_052633.1:g.41867del
NLRP2 RefSeqGene	NG_052633.1:g.41867dup
NLRP2 RefSeqGene	NG_052633.1:g.41866_41867dup
NLRP2 RefSeqGene	NG_052633.1:g.41865_41867dup
NLRP2 RefSeqGene	NG_052633.1:g.41864_41867dup
NLRP2 RefSeqGene	NG_052633.1:g.41859_41867dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702150_702157del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702154_702157del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702155_702157del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702156_702157del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702157del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702157dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702156_702157dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702155_702157dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702154_702157dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702149_702157dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702149_702156del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702153_702156del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702154_702156del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702155_702156del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702156del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702156dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702155_702156dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702154_702156dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702153_702156dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702148_702156dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908354_908361del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908358_908361del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908359_908361del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908360_908361del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908361del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908360_908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908359_908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908358_908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908353_908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972061_972068del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972065_972068del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972066_972068del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972067_972068del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972068del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972067_972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972066_972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972065_972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972060_972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997512_997519del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997516_997519del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997517_997519del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997518_997519del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997519del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997518_997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997517_997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997516_997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997511_997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969975_969982del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969979_969982del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969980_969982del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969981_969982del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969982del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969981_969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969980_969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969979_969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969974_969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635191_635198del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635195_635198del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635196_635198del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635197_635198del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635198del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635198dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635197_635198dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635196_635198dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635195_635198dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635190_635198dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635190_635197del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635194_635197del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635195_635197del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635196_635197del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635197del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635197dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635196_635197dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635195_635197dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635194_635197dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635189_635197dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893387_893394del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893391_893394del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893392_893394del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893393_893394del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893394del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893394dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893393_893394dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893392_893394dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893391_893394dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893386_893394dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972471_972478del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972475_972478del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972476_972478del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972477_972478del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972478del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972478dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972477_972478dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972476_972478dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972475_972478dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972470_972478dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892776_892783del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892780_892783del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892781_892783del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892782_892783del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892783del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892783dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892782_892783dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892781_892783dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892780_892783dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892775_892783dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964357_964364del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964361_964364del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964362_964364del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964363_964364del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964364del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964364dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964363_964364dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964362_964364dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964361_964364dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964356_964364dup

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.2367-33_… NM_001174081.3:c.2367-33_2367-26del	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.2301-33_… NM_001174082.3:c.2301-33_2301-26del	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.2298-33_… NM_001174083.2:c.2298-33_2298-26del	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.2358-33_… NM_001348003.2:c.2358-33_2358-26del	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.2367-33_236… NM_017852.5:c.2367-33_2367-26del	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)₁₆=	del(A)₈	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₉
GRCh38.p14 chr 19	NC_000019.10:g.54989981_54989996=	NC_000019.10:g.54989989_54989996del	NC_000019.10:g.54989993_54989996del	NC_000019.10:g.54989994_54989996del	NC_000019.10:g.54989995_54989996del	NC_000019.10:g.54989996del	NC_000019.10:g.54989996dup	NC_000019.10:g.54989995_54989996dup	NC_000019.10:g.54989994_54989996dup	NC_000019.10:g.54989993_54989996dup	NC_000019.10:g.54989988_54989996dup
GRCh37.p13 chr 19	NC_000019.9:g.55501349_55501364=	NC_000019.9:g.55501357_55501364del	NC_000019.9:g.55501361_55501364del	NC_000019.9:g.55501362_55501364del	NC_000019.9:g.55501363_55501364del	NC_000019.9:g.55501364del	NC_000019.9:g.55501364dup	NC_000019.9:g.55501363_55501364dup	NC_000019.9:g.55501362_55501364dup	NC_000019.9:g.55501361_55501364dup	NC_000019.9:g.55501356_55501364dup
NLRP2 RefSeqGene	NG_052633.1:g.41852_41867=	NG_052633.1:g.41860_41867del	NG_052633.1:g.41864_41867del	NG_052633.1:g.41865_41867del	NG_052633.1:g.41866_41867del	NG_052633.1:g.41867del	NG_052633.1:g.41867dup	NG_052633.1:g.41866_41867dup	NG_052633.1:g.41865_41867dup	NG_052633.1:g.41864_41867dup	NG_052633.1:g.41859_41867dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.702142_702157=	NW_003571061.2:g.702150_702157del	NW_003571061.2:g.702154_702157del	NW_003571061.2:g.702155_702157del	NW_003571061.2:g.702156_702157del	NW_003571061.2:g.702157del	NW_003571061.2:g.702157dup	NW_003571061.2:g.702156_702157dup	NW_003571061.2:g.702155_702157dup	NW_003571061.2:g.702154_702157dup	NW_003571061.2:g.702149_702157dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.702141_702156=	NW_003571061.1:g.702149_702156del	NW_003571061.1:g.702153_702156del	NW_003571061.1:g.702154_702156del	NW_003571061.1:g.702155_702156del	NW_003571061.1:g.702156del	NW_003571061.1:g.702156dup	NW_003571061.1:g.702155_702156dup	NW_003571061.1:g.702154_702156dup	NW_003571061.1:g.702153_702156dup	NW_003571061.1:g.702148_702156dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.908346_908361=	NW_003571059.2:g.908354_908361del	NW_003571059.2:g.908358_908361del	NW_003571059.2:g.908359_908361del	NW_003571059.2:g.908360_908361del	NW_003571059.2:g.908361del	NW_003571059.2:g.908361dup	NW_003571059.2:g.908360_908361dup	NW_003571059.2:g.908359_908361dup	NW_003571059.2:g.908358_908361dup	NW_003571059.2:g.908353_908361dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.972053_972068=	NW_003571058.2:g.972061_972068del	NW_003571058.2:g.972065_972068del	NW_003571058.2:g.972066_972068del	NW_003571058.2:g.972067_972068del	NW_003571058.2:g.972068del	NW_003571058.2:g.972068dup	NW_003571058.2:g.972067_972068dup	NW_003571058.2:g.972066_972068dup	NW_003571058.2:g.972065_972068dup	NW_003571058.2:g.972060_972068dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.997504_997519=	NW_003571057.2:g.997512_997519del	NW_003571057.2:g.997516_997519del	NW_003571057.2:g.997517_997519del	NW_003571057.2:g.997518_997519del	NW_003571057.2:g.997519del	NW_003571057.2:g.997519dup	NW_003571057.2:g.997518_997519dup	NW_003571057.2:g.997517_997519dup	NW_003571057.2:g.997516_997519dup	NW_003571057.2:g.997511_997519dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.969967_969982=	NW_003571056.2:g.969975_969982del	NW_003571056.2:g.969979_969982del	NW_003571056.2:g.969980_969982del	NW_003571056.2:g.969981_969982del	NW_003571056.2:g.969982del	NW_003571056.2:g.969982dup	NW_003571056.2:g.969981_969982dup	NW_003571056.2:g.969980_969982dup	NW_003571056.2:g.969979_969982dup	NW_003571056.2:g.969974_969982dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.635183_635198=	NW_003571055.2:g.635191_635198del	NW_003571055.2:g.635195_635198del	NW_003571055.2:g.635196_635198del	NW_003571055.2:g.635197_635198del	NW_003571055.2:g.635198del	NW_003571055.2:g.635198dup	NW_003571055.2:g.635197_635198dup	NW_003571055.2:g.635196_635198dup	NW_003571055.2:g.635195_635198dup	NW_003571055.2:g.635190_635198dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.635182_635197=	NW_003571055.1:g.635190_635197del	NW_003571055.1:g.635194_635197del	NW_003571055.1:g.635195_635197del	NW_003571055.1:g.635196_635197del	NW_003571055.1:g.635197del	NW_003571055.1:g.635197dup	NW_003571055.1:g.635196_635197dup	NW_003571055.1:g.635195_635197dup	NW_003571055.1:g.635194_635197dup	NW_003571055.1:g.635189_635197dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.893379_893394=	NW_003571054.1:g.893387_893394del	NW_003571054.1:g.893391_893394del	NW_003571054.1:g.893392_893394del	NW_003571054.1:g.893393_893394del	NW_003571054.1:g.893394del	NW_003571054.1:g.893394dup	NW_003571054.1:g.893393_893394dup	NW_003571054.1:g.893392_893394dup	NW_003571054.1:g.893391_893394dup	NW_003571054.1:g.893386_893394dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.972463_972478=	NT_187693.1:g.972471_972478del	NT_187693.1:g.972475_972478del	NT_187693.1:g.972476_972478del	NT_187693.1:g.972477_972478del	NT_187693.1:g.972478del	NT_187693.1:g.972478dup	NT_187693.1:g.972477_972478dup	NT_187693.1:g.972476_972478dup	NT_187693.1:g.972475_972478dup	NT_187693.1:g.972470_972478dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.892767_892783=	NW_003571060.1:g.892776_892783del	NW_003571060.1:g.892780_892783del	NW_003571060.1:g.892781_892783del	NW_003571060.1:g.892782_892783del	NW_003571060.1:g.892783del	NW_003571060.1:g.892783dup	NW_003571060.1:g.892782_892783dup	NW_003571060.1:g.892781_892783dup	NW_003571060.1:g.892780_892783dup	NW_003571060.1:g.892775_892783dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.964349_964364=	NW_004166865.1:g.964357_964364del	NW_004166865.1:g.964361_964364del	NW_004166865.1:g.964362_964364del	NW_004166865.1:g.964363_964364del	NW_004166865.1:g.964364del	NW_004166865.1:g.964364dup	NW_004166865.1:g.964363_964364dup	NW_004166865.1:g.964362_964364dup	NW_004166865.1:g.964361_964364dup	NW_004166865.1:g.964356_964364dup
NLRP2 transcript variant 2	NM_001174081.1:c.2367-41=	NM_001174081.1:c.2367-33_2367-26del	NM_001174081.1:c.2367-29_2367-26del	NM_001174081.1:c.2367-28_2367-26del	NM_001174081.1:c.2367-27_2367-26del	NM_001174081.1:c.2367-26del	NM_001174081.1:c.2367-26dup	NM_001174081.1:c.2367-27_2367-26dup	NM_001174081.1:c.2367-28_2367-26dup	NM_001174081.1:c.2367-29_2367-26dup	NM_001174081.1:c.2367-34_2367-26dup
NLRP2 transcript variant 2	NM_001174081.3:c.2367-41=	NM_001174081.3:c.2367-33_2367-26del	NM_001174081.3:c.2367-29_2367-26del	NM_001174081.3:c.2367-28_2367-26del	NM_001174081.3:c.2367-27_2367-26del	NM_001174081.3:c.2367-26del	NM_001174081.3:c.2367-26dup	NM_001174081.3:c.2367-27_2367-26dup	NM_001174081.3:c.2367-28_2367-26dup	NM_001174081.3:c.2367-29_2367-26dup	NM_001174081.3:c.2367-34_2367-26dup
NLRP2 transcript variant 3	NM_001174082.1:c.2301-41=	NM_001174082.1:c.2301-33_2301-26del	NM_001174082.1:c.2301-29_2301-26del	NM_001174082.1:c.2301-28_2301-26del	NM_001174082.1:c.2301-27_2301-26del	NM_001174082.1:c.2301-26del	NM_001174082.1:c.2301-26dup	NM_001174082.1:c.2301-27_2301-26dup	NM_001174082.1:c.2301-28_2301-26dup	NM_001174082.1:c.2301-29_2301-26dup	NM_001174082.1:c.2301-34_2301-26dup
NLRP2 transcript variant 3	NM_001174082.3:c.2301-41=	NM_001174082.3:c.2301-33_2301-26del	NM_001174082.3:c.2301-29_2301-26del	NM_001174082.3:c.2301-28_2301-26del	NM_001174082.3:c.2301-27_2301-26del	NM_001174082.3:c.2301-26del	NM_001174082.3:c.2301-26dup	NM_001174082.3:c.2301-27_2301-26dup	NM_001174082.3:c.2301-28_2301-26dup	NM_001174082.3:c.2301-29_2301-26dup	NM_001174082.3:c.2301-34_2301-26dup
NLRP2 transcript variant 4	NM_001174083.1:c.2298-41=	NM_001174083.1:c.2298-33_2298-26del	NM_001174083.1:c.2298-29_2298-26del	NM_001174083.1:c.2298-28_2298-26del	NM_001174083.1:c.2298-27_2298-26del	NM_001174083.1:c.2298-26del	NM_001174083.1:c.2298-26dup	NM_001174083.1:c.2298-27_2298-26dup	NM_001174083.1:c.2298-28_2298-26dup	NM_001174083.1:c.2298-29_2298-26dup	NM_001174083.1:c.2298-34_2298-26dup
NLRP2 transcript variant 4	NM_001174083.2:c.2298-41=	NM_001174083.2:c.2298-33_2298-26del	NM_001174083.2:c.2298-29_2298-26del	NM_001174083.2:c.2298-28_2298-26del	NM_001174083.2:c.2298-27_2298-26del	NM_001174083.2:c.2298-26del	NM_001174083.2:c.2298-26dup	NM_001174083.2:c.2298-27_2298-26dup	NM_001174083.2:c.2298-28_2298-26dup	NM_001174083.2:c.2298-29_2298-26dup	NM_001174083.2:c.2298-34_2298-26dup
NLRP2 transcript variant 5	NM_001348003.2:c.2358-41=	NM_001348003.2:c.2358-33_2358-26del	NM_001348003.2:c.2358-29_2358-26del	NM_001348003.2:c.2358-28_2358-26del	NM_001348003.2:c.2358-27_2358-26del	NM_001348003.2:c.2358-26del	NM_001348003.2:c.2358-26dup	NM_001348003.2:c.2358-27_2358-26dup	NM_001348003.2:c.2358-28_2358-26dup	NM_001348003.2:c.2358-29_2358-26dup	NM_001348003.2:c.2358-34_2358-26dup
NLRP2 transcript variant 1	NM_017852.3:c.2367-41=	NM_017852.3:c.2367-33_2367-26del	NM_017852.3:c.2367-29_2367-26del	NM_017852.3:c.2367-28_2367-26del	NM_017852.3:c.2367-27_2367-26del	NM_017852.3:c.2367-26del	NM_017852.3:c.2367-26dup	NM_017852.3:c.2367-27_2367-26dup	NM_017852.3:c.2367-28_2367-26dup	NM_017852.3:c.2367-29_2367-26dup	NM_017852.3:c.2367-34_2367-26dup
NLRP2 transcript variant 1	NM_017852.5:c.2367-41=	NM_017852.5:c.2367-33_2367-26del	NM_017852.5:c.2367-29_2367-26del	NM_017852.5:c.2367-28_2367-26del	NM_017852.5:c.2367-27_2367-26del	NM_017852.5:c.2367-26del	NM_017852.5:c.2367-26dup	NM_017852.5:c.2367-27_2367-26dup	NM_017852.5:c.2367-28_2367-26dup	NM_017852.5:c.2367-29_2367-26dup	NM_017852.5:c.2367-34_2367-26dup
NLRP2 transcript variant X1	XM_005259050.1:c.2358-41=	XM_005259050.1:c.2358-33_2358-26del	XM_005259050.1:c.2358-29_2358-26del	XM_005259050.1:c.2358-28_2358-26del	XM_005259050.1:c.2358-27_2358-26del	XM_005259050.1:c.2358-26del	XM_005259050.1:c.2358-26dup	XM_005259050.1:c.2358-27_2358-26dup	XM_005259050.1:c.2358-28_2358-26dup	XM_005259050.1:c.2358-29_2358-26dup	XM_005259050.1:c.2358-34_2358-26dup
NLRP2 transcript variant X2	XM_005277121.1:c.2358-41=	XM_005277121.1:c.2358-33_2358-26del	XM_005277121.1:c.2358-29_2358-26del	XM_005277121.1:c.2358-28_2358-26del	XM_005277121.1:c.2358-27_2358-26del	XM_005277121.1:c.2358-26del	XM_005277121.1:c.2358-26dup	XM_005277121.1:c.2358-27_2358-26dup	XM_005277121.1:c.2358-28_2358-26dup	XM_005277121.1:c.2358-29_2358-26dup	XM_005277121.1:c.2358-34_2358-26dup
NLRP2 transcript variant X9	XM_005278284.1:c.2358-41=	XM_005278284.1:c.2358-33_2358-26del	XM_005278284.1:c.2358-29_2358-26del	XM_005278284.1:c.2358-28_2358-26del	XM_005278284.1:c.2358-27_2358-26del	XM_005278284.1:c.2358-26del	XM_005278284.1:c.2358-26dup	XM_005278284.1:c.2358-27_2358-26dup	XM_005278284.1:c.2358-28_2358-26dup	XM_005278284.1:c.2358-29_2358-26dup	XM_005278284.1:c.2358-34_2358-26dup

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#.

61 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40977413	Mar 14, 2006 (126)
2	HUMANGENOME_JCVI	ss95936879	Feb 13, 2009 (130)
3	GMI	ss289395388	May 04, 2012 (137)
4	PJP	ss294967975	May 09, 2011 (137)
5	1000GENOMES	ss1378270329	Aug 21, 2014 (142)
6	EVA_EXAC	ss1712215267	Jan 10, 2018 (151)
7	EVA_EXAC	ss1712215268	Apr 01, 2015 (144)
8	EVA_EXAC	ss1712215269	Apr 01, 2015 (144)
9	EVA_EXAC	ss1712215270	Apr 01, 2015 (144)
10	EVA_EXAC	ss1712215271	Apr 01, 2015 (144)
11	EVA_EXAC	ss1712215272	Apr 01, 2015 (144)
12	SWEGEN	ss3017691075	Nov 08, 2017 (151)
13	EVA_DECODE	ss3703019853	Jul 13, 2019 (153)
14	EVA_DECODE	ss3703019854	Jul 13, 2019 (153)
15	EVA_DECODE	ss3703019855	Jul 13, 2019 (153)
16	EVA_DECODE	ss3703019856	Jul 13, 2019 (153)
17	EVA_DECODE	ss3703019857	Jul 13, 2019 (153)
18	ACPOP	ss3743150652	Jul 13, 2019 (153)
19	ACPOP	ss3743150653	Jul 13, 2019 (153)
20	PACBIO	ss3788567946	Jul 13, 2019 (153)
21	PACBIO	ss3793472414	Jul 13, 2019 (153)
22	PACBIO	ss3798359495	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3821462366	Jul 13, 2019 (153)
24	EVA	ss3835528645	Apr 27, 2020 (154)
25	FSA-LAB	ss3984164369	Apr 27, 2021 (155)
26	GNOMAD	ss4333311050	Apr 27, 2021 (155)
27	GNOMAD	ss4333311051	Apr 27, 2021 (155)
28	GNOMAD	ss4333311052	Apr 27, 2021 (155)
29	GNOMAD	ss4333311053	Apr 27, 2021 (155)
30	GNOMAD	ss4333311054	Apr 27, 2021 (155)
31	GNOMAD	ss4333311055	Apr 27, 2021 (155)
32	GNOMAD	ss4333311056	Apr 27, 2021 (155)
33	GNOMAD	ss4333311057	Apr 27, 2021 (155)
34	TOPMED	ss5078758617	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5228358985	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5228358986	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5228358987	Apr 27, 2021 (155)
38	EVA	ss5237249907	Apr 27, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5307710256	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5307710257	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5307710258	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5307710259	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5307710260	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5500151610	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5500151611	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5500151612	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5500151613	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5500151614	Oct 16, 2022 (156)
49	EVA	ss5623979662	Oct 16, 2022 (156)
50	EVA	ss5624095135	Oct 16, 2022 (156)
51	EVA	ss5624095136	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5787199933	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5787199934	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5787199935	Oct 16, 2022 (156)
55	EVA	ss5800073964	Oct 16, 2022 (156)
56	EVA	ss5852339663	Oct 16, 2022 (156)
57	EVA	ss5936419644	Oct 16, 2022 (156)
58	EVA	ss5936419645	Oct 16, 2022 (156)
59	EVA	ss5936419646	Oct 16, 2022 (156)
60	EVA	ss5981067803	Oct 16, 2022 (156)
61	EVA	ss5981314996	Oct 16, 2022 (156)
62	1000Genomes	NC_000019.9 - 55501349	Oct 12, 2018 (152)
63	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
64	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
65	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
66	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
67	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
68	ExAC Submission ignored due to conflicting rows: Row 4332632 (NC_000019.9:55501348::AAA 196/85090) Row 4332633 (NC_000019.9:55501348::AA 1666/85090) Row 4332634 (NC_000019.9:55501348::A 13792/85090) Row 4332635 (NC_000019.9:55501348:A: 29573/85090) Row 4332636 (NC_000019.9:55501348:AA: 2092/85090) Row 4332637 (NC_000019.9:55501348:AAA: 68/85090)	-	Oct 12, 2018 (152)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543518754 (NC_000019.10:54989980::A 34381/119266) Row 543518755 (NC_000019.10:54989980::AA 89/119554) Row 543518756 (NC_000019.10:54989980::AAA 583/119546)...	-	Apr 27, 2021 (155)
77	Northern Sweden Submission ignored due to conflicting rows: Row 16435517 (NC_000019.9:55501348::A 97/548) Row 16435518 (NC_000019.9:55501348:A: 63/548)	-	Jul 13, 2019 (153)
78	Northern Sweden Submission ignored due to conflicting rows: Row 16435517 (NC_000019.9:55501348::A 97/548) Row 16435518 (NC_000019.9:55501348:A: 63/548)	-	Jul 13, 2019 (153)
79	8.3KJPN Submission ignored due to conflicting rows: Row 86328292 (NC_000019.9:55501348:A: 3103/16750) Row 86328293 (NC_000019.9:55501348::A 810/16750) Row 86328294 (NC_000019.9:55501348::AA 3/16750)	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 86328292 (NC_000019.9:55501348:A: 3103/16750) Row 86328293 (NC_000019.9:55501348::A 810/16750) Row 86328294 (NC_000019.9:55501348::AA 3/16750)	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 86328292 (NC_000019.9:55501348:A: 3103/16750) Row 86328293 (NC_000019.9:55501348::A 810/16750) Row 86328294 (NC_000019.9:55501348::AA 3/16750)	-	Apr 27, 2021 (155)
82	14KJPN Submission ignored due to conflicting rows: Row 121037037 (NC_000019.10:54989980:A: 5255/28258) Row 121037038 (NC_000019.10:54989980::A 1435/28258) Row 121037039 (NC_000019.10:54989980::AA 3/28258)	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 121037037 (NC_000019.10:54989980:A: 5255/28258) Row 121037038 (NC_000019.10:54989980::A 1435/28258) Row 121037039 (NC_000019.10:54989980::AA 3/28258)	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 121037037 (NC_000019.10:54989980:A: 5255/28258) Row 121037038 (NC_000019.10:54989980::A 1435/28258) Row 121037039 (NC_000019.10:54989980::AA 3/28258)	-	Oct 16, 2022 (156)
85	TopMed	NC_000019.10 - 54989981	Apr 27, 2021 (155)
86	ALFA	NC_000019.10 - 54989981	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)
rs751944295	Jul 01, 2015 (144)
rs72528906	Jul 30, 2012 (137)
rs143660810	May 04, 2012 (137)
rs796498296	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
294304281, ss4333311057, ss5078758617	NC_000019.10:54989980:AAAAAAAA:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss1712215271	NC_000019.9:55501348:AAA:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4333311056	NC_000019.10:54989980:AAA:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1712215267, ss3984164369, ss5936419644	NC_000019.9:55501348:AA:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3703019857, ss4333311055, ss5307710258, ss5500151613	NC_000019.10:54989980:AA:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss289395388	NC_000019.8:60193160:A:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
77074531, ss1378270329, ss1712215268, ss3017691075, ss3743150653, ss3788567946, ss3793472414, ss3798359495, ss5228358985, ss5623979662, ss5624095135, ss5936419645, ss5981067803, ss5981314996	NC_000019.9:55501348:A:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3821462366, ss4333311054, ss5237249907, ss5307710256, ss5500151611, ss5787199933, ss5852339663	NC_000019.10:54989980:A:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3703019856	NC_000019.10:54989981:A:	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss294967975	NC_000019.8:60193161::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1712215269, ss3743150652, ss5228358986, ss5624095136, ss5800073964, ss5936419646	NC_000019.9:55501348::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4333311050, ss5307710257, ss5500151610, ss5787199934	NC_000019.10:54989980::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3703019855	NC_000019.10:54989982::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss40977413	NT_011109.16:27769566::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss95936879	NT_011109.16:27769582::A	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1712215270, ss5228358987	NC_000019.9:55501348::AA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4333311051, ss5307710260, ss5500151612, ss5787199935	NC_000019.10:54989980::AA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3703019854	NC_000019.10:54989982::AA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1712215272, ss3835528645	NC_000019.9:55501348::AAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333311052, ss5307710259, ss5500151614	NC_000019.10:54989980::AAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333311053	NC_000019.10:54989980::AAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6327089710	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3703019853	NC_000019.10:54989982::AAAAAAAAA	NC_000019.10:54989980:AAAAAAAAAAAA… NC_000019.10:54989980:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs35241109

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

rs35241109