Name: rs11305444
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.

rs11305444

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:88609899-88609918 (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)₁₂ / del(A)₁₁ / del(A)₉ / de…
del(A)₁₂ / del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.3244 (1689/5206, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LIPJ : 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	5206	AAAAAAAAAAAAAAAAAAAA=0.6713	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0019, AAAAAAAAAAAAAAAAAAA=0.3244, AAAAAAAAAAAAAAAAAAAAA=0.0023, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.503502	0.154475	0.342023	32
European	Sub	5002	AAAAAAAAAAAAAAAAAAAA=0.6589	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0020, AAAAAAAAAAAAAAAAAAA=0.3367, AAAAAAAAAAAAAAAAAAAAA=0.0024, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.484198	0.160049	0.355754	32
African	Sub	140	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	138	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	28	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	32	AAAAAAAAAAAAAAAAAAAA=0.84	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.16, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	0.8125	0.125	0.0625	6

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5206	(A)₂₀=0.6713	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, delAAA=0.0000, delAA=0.0019, delA=0.3244, dupA=0.0023, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	5002	(A)₂₀=0.6589	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, delAAA=0.0000, delAA=0.0020, delA=0.3367, dupA=0.0024, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	140	(A)₂₀=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	32	(A)₂₀=0.84	del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.16, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	28	(A)₂₀=1.00	del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₂₀=1.0	del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₀=0	del(A)₁₂=0, del(A)₁₁=0, del(A)₉=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₀=0	del(A)₁₂=0, del(A)₁₁=0, del(A)₉=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.88609907_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609908_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609910_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609911_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609913_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609914_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609915_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609916_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609917_88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609918del
GRCh38.p14 chr 10	NC_000010.11:g.88609918dup
GRCh38.p14 chr 10	NC_000010.11:g.88609917_88609918dup
GRCh38.p14 chr 10	NC_000010.11:g.88609916_88609918dup
GRCh38.p14 chr 10	NC_000010.11:g.88609913_88609918dup
GRCh37.p13 chr 10	NC_000010.10:g.90369664_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369665_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369667_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369668_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369670_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369671_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369672_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369673_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369674_90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369675del
GRCh37.p13 chr 10	NC_000010.10:g.90369675dup
GRCh37.p13 chr 10	NC_000010.10:g.90369674_90369675dup
GRCh37.p13 chr 10	NC_000010.10:g.90369673_90369675dup
GRCh37.p13 chr 10	NC_000010.10:g.90369670_90369675dup

Gene: LIPJ, lipase family member J (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LIPJ transcript variant 1	NM_001010939.3:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant 2	NM_001394640.1:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant 3	NR_172141.1:n.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant X3	XM_047424642.1:c.925+3176… XM_047424642.1:c.925+3176_925+3187del	N/A	Intron Variant
LIPJ transcript variant X4	XM_047424643.1:c.867+4203… XM_047424643.1:c.867+4203_867+4214del	N/A	Intron Variant
LIPJ transcript variant X5	XM_005269542.3:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant X1	XM_006717635.4:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant X2	XM_011539315.2:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant X6	XM_011539318.2:c.	N/A	Genic Downstream Transcript Variant
LIPJ transcript variant X7	XM_011539319.1:c.	N/A	Genic Downstream Transcript 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)₁₂	del(A)₁₁	del(A)₉	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₆
GRCh38.p14 chr 10	NC_000010.11:g.88609899_88609918=	NC_000010.11:g.88609907_88609918del	NC_000010.11:g.88609908_88609918del	NC_000010.11:g.88609910_88609918del	NC_000010.11:g.88609911_88609918del	NC_000010.11:g.88609913_88609918del	NC_000010.11:g.88609914_88609918del	NC_000010.11:g.88609915_88609918del	NC_000010.11:g.88609916_88609918del	NC_000010.11:g.88609917_88609918del	NC_000010.11:g.88609918del	NC_000010.11:g.88609918dup	NC_000010.11:g.88609917_88609918dup	NC_000010.11:g.88609916_88609918dup	NC_000010.11:g.88609913_88609918dup
GRCh37.p13 chr 10	NC_000010.10:g.90369656_90369675=	NC_000010.10:g.90369664_90369675del	NC_000010.10:g.90369665_90369675del	NC_000010.10:g.90369667_90369675del	NC_000010.10:g.90369668_90369675del	NC_000010.10:g.90369670_90369675del	NC_000010.10:g.90369671_90369675del	NC_000010.10:g.90369672_90369675del	NC_000010.10:g.90369673_90369675del	NC_000010.10:g.90369674_90369675del	NC_000010.10:g.90369675del	NC_000010.10:g.90369675dup	NC_000010.10:g.90369674_90369675dup	NC_000010.10:g.90369673_90369675dup	NC_000010.10:g.90369670_90369675dup
LIPJ transcript variant X3	XM_047424642.1:c.925+3168=	XM_047424642.1:c.925+3176_925+3187del	XM_047424642.1:c.925+3177_925+3187del	XM_047424642.1:c.925+3179_925+3187del	XM_047424642.1:c.925+3180_925+3187del	XM_047424642.1:c.925+3182_925+3187del	XM_047424642.1:c.925+3183_925+3187del	XM_047424642.1:c.925+3184_925+3187del	XM_047424642.1:c.925+3185_925+3187del	XM_047424642.1:c.925+3186_925+3187del	XM_047424642.1:c.925+3187del	XM_047424642.1:c.925+3187dup	XM_047424642.1:c.925+3186_925+3187dup	XM_047424642.1:c.925+3185_925+3187dup	XM_047424642.1:c.925+3182_925+3187dup
LIPJ transcript variant X4	XM_047424643.1:c.867+4195=	XM_047424643.1:c.867+4203_867+4214del	XM_047424643.1:c.867+4204_867+4214del	XM_047424643.1:c.867+4206_867+4214del	XM_047424643.1:c.867+4207_867+4214del	XM_047424643.1:c.867+4209_867+4214del	XM_047424643.1:c.867+4210_867+4214del	XM_047424643.1:c.867+4211_867+4214del	XM_047424643.1:c.867+4212_867+4214del	XM_047424643.1:c.867+4213_867+4214del	XM_047424643.1:c.867+4214del	XM_047424643.1:c.867+4214dup	XM_047424643.1:c.867+4213_867+4214dup	XM_047424643.1:c.867+4212_867+4214dup	XM_047424643.1:c.867+4209_867+4214dup

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#.

53 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss39866634	Mar 15, 2006 (137)
2	HGSV	ss81593706	Dec 14, 2007 (137)
3	HGSV	ss82348395	Dec 14, 2007 (137)
4	HGSV	ss82928422	Dec 14, 2007 (137)
5	HGSV	ss82979807	Dec 14, 2007 (137)
6	HGSV	ss83169898	Dec 14, 2007 (137)
7	HUMANGENOME_JCVI	ss95548434	Feb 04, 2009 (137)
8	PJP	ss294668690	May 09, 2011 (137)
9	PJP	ss294668691	May 09, 2011 (137)
10	EVA_UK10K_ALSPAC	ss1706839078	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1706839092	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710480270	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710480273	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710480330	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1710480332	Apr 01, 2015 (144)
16	MCHAISSO	ss3063663723	Nov 08, 2017 (151)
17	MCHAISSO	ss3064485031	Nov 08, 2017 (151)
18	MCHAISSO	ss3065396008	Nov 08, 2017 (151)
19	EVA_DECODE	ss3690377981	Jul 13, 2019 (153)
20	EVA_DECODE	ss3690377982	Jul 13, 2019 (153)
21	EVA_DECODE	ss3690377983	Jul 13, 2019 (153)
22	EVA_DECODE	ss3690377984	Jul 13, 2019 (153)
23	EVA_DECODE	ss3690377985	Jul 13, 2019 (153)
24	EVA_DECODE	ss3690377986	Jul 13, 2019 (153)
25	PACBIO	ss3791914821	Jul 13, 2019 (153)
26	PACBIO	ss3796796936	Jul 13, 2019 (153)
27	EVA	ss3832254704	Apr 26, 2020 (154)
28	GNOMAD	ss4222899020	Apr 26, 2021 (155)
29	GNOMAD	ss4222899021	Apr 26, 2021 (155)
30	GNOMAD	ss4222899022	Apr 26, 2021 (155)
31	GNOMAD	ss4222899023	Apr 26, 2021 (155)
32	GNOMAD	ss4222899024	Apr 26, 2021 (155)
33	GNOMAD	ss4222899025	Apr 26, 2021 (155)
34	GNOMAD	ss4222899026	Apr 26, 2021 (155)
35	GNOMAD	ss4222899027	Apr 26, 2021 (155)
36	GNOMAD	ss4222899028	Apr 26, 2021 (155)
37	GNOMAD	ss4222899029	Apr 26, 2021 (155)
38	GNOMAD	ss4222899030	Apr 26, 2021 (155)
39	GNOMAD	ss4222899031	Apr 26, 2021 (155)
40	GNOMAD	ss4222899032	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5198781207	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5198781208	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5284942685	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5284942686	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5480417883	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5480417884	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5480417885	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5744942757	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5744942758	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5744942759	Oct 16, 2022 (156)
51	YY_MCH	ss5811756413	Oct 16, 2022 (156)
52	EVA	ss5824749940	Oct 16, 2022 (156)
53	EVA	ss5849678245	Oct 16, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 28244459 (NC_000010.10:90369656:A: 1689/3854) Row 28244461 (NC_000010.10:90369655:AAA: 195/3854)	-	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 28244459 (NC_000010.10:90369656:A: 1689/3854) Row 28244461 (NC_000010.10:90369655:AAA: 195/3854)	-	Oct 12, 2018 (152)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 359521999 (NC_000010.11:88609898::A 281/76686) Row 359522000 (NC_000010.11:88609898::AA 10/76800) Row 359522001 (NC_000010.11:88609898::AAA 1/76814)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 56750514 (NC_000010.10:90369655:A: 14133/16632) Row 56750515 (NC_000010.10:90369655:AA: 119/16632)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 56750514 (NC_000010.10:90369655:A: 14133/16632) Row 56750515 (NC_000010.10:90369655:AA: 119/16632)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 78779861 (NC_000010.11:88609898:A: 25300/28128) Row 78779862 (NC_000010.11:88609898:AA: 220/28128) Row 78779863 (NC_000010.11:88609898::A 2/28128)	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 78779861 (NC_000010.11:88609898:A: 25300/28128) Row 78779862 (NC_000010.11:88609898:AA: 220/28128) Row 78779863 (NC_000010.11:88609898::A 2/28128)	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 78779861 (NC_000010.11:88609898:A: 25300/28128) Row 78779862 (NC_000010.11:88609898:AA: 220/28128) Row 78779863 (NC_000010.11:88609898::A 2/28128)	-	Oct 16, 2022 (156)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 28244459 (NC_000010.10:90369656:A: 1525/3708) Row 28244461 (NC_000010.10:90369655:AAA: 198/3708)	-	Oct 12, 2018 (152)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 28244459 (NC_000010.10:90369656:AA: 1525/3708) Row 28244460 (NC_000010.10:90369657:A: 1638/3708) Row 28244461 (NC_000010.10:90369655:AAA: 198/3708)	-	Apr 26, 2020 (154)
76	UK 10K study - Twins Submission ignored due to conflicting rows: Row 28244459 (NC_000010.10:90369656:A: 1525/3708) Row 28244461 (NC_000010.10:90369655:AAA: 198/3708)	-	Oct 12, 2018 (152)
77	ALFA	NC_000010.11 - 88609899	Apr 26, 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)
rs35889034	May 11, 2012 (137)
rs57252034	May 23, 2008 (130)
rs66762571	May 11, 2012 (137)
rs66762572	Feb 26, 2009 (130)
rs71911100	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4222899032	NC_000010.11:88609898:AAAAAAAAAAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4222899031	NC_000010.11:88609898:AAAAAAAAAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4222899030	NC_000010.11:88609898:AAAAAAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4222899029	NC_000010.11:88609898:AAAAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3690377986, ss4222899028	NC_000010.11:88609898:AAAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4222899027	NC_000010.11:88609898:AAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3690377985	NC_000010.11:88609899:AAAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1706839078, ss1706839092	NC_000010.10:90369655:AAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4222899026	NC_000010.11:88609898:AAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3690377984	NC_000010.11:88609900:AAA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5198781208	NC_000010.10:90369655:AA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710480270, ss1710480330	NC_000010.10:90369656:AA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4222899025, ss5284942685, ss5480417884, ss5744942758	NC_000010.11:88609898:AA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3690377983	NC_000010.11:88609901:AA:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss81593706, ss82348395, ss82928422, ss82979807, ss83169898	NC_000010.8:90359654:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss294668690	NC_000010.9:90359635:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss294668691	NC_000010.9:90359654:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3791914821, ss3796796936, ss3832254704, ss5198781207, ss5824749940	NC_000010.10:90369655:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
	NC_000010.10:90369656:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710480273, ss1710480332	NC_000010.10:90369657:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3063663723, ss3064485031, ss3065396008, ss4222899024, ss5480417883, ss5744942757, ss5811756413, ss5849678245	NC_000010.11:88609898:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3690377982	NC_000010.11:88609902:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss39866634, ss95548434	NT_030059.13:41174138:A:	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4222899020, ss5284942686, ss5480417885, ss5744942759	NC_000010.11:88609898::A	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3690377981	NC_000010.11:88609903::A	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4222899021	NC_000010.11:88609898::AA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
1963728306	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4222899022	NC_000010.11:88609898::AAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4222899023	NC_000010.11:88609898::AAAAAA	NC_000010.11:88609898:AAAAAAAAAAAA… NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs11305444

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

rs11305444