Name: rs1185861063
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.

rs1185861063

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:30400895-30400923 (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)₁₈ / del(A)₁₇ / del(A)₁₆ / d…
del(A)₁₈ / del(A)₁₇ / del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / 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)₆ / dup(A)₈ / ins(A)₃₀
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₈=0.000 (0/626, ALFA)
del(A)₁₇=0.000 (0/626, ALFA)
del(A)₁₆=0.000 (0/626, ALFA) (+ 21 more)
del(A)₁₅=0.000 (0/626, ALFA)
del(A)₁₄=0.000 (0/626, ALFA)
del(A)₁₃=0.000 (0/626, ALFA)
del(A)₁₂=0.000 (0/626, ALFA)
del(A)₁₁=0.000 (0/626, ALFA)
del(A)₁₀=0.000 (0/626, ALFA)
del(A)₉=0.000 (0/626, ALFA)
del(A)₈=0.000 (0/626, ALFA)
del(A)₇=0.000 (0/626, ALFA)
del(A)₆=0.000 (0/626, ALFA)
del(A)₅=0.000 (0/626, ALFA)
del(A)₄=0.000 (0/626, ALFA)
delAAA=0.000 (0/626, ALFA)
delAA=0.000 (0/626, ALFA)
delA=0.000 (0/626, ALFA)
dupA=0.000 (0/626, ALFA)
dupAA=0.000 (0/626, ALFA)
dupAAA=0.000 (0/626, ALFA)
dup(A)₄=0.000 (0/626, ALFA)
dup(A)₅=0.000 (0/626, ALFA)
ins(A)₃₀=0.004 (2/546, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEC14L2 : 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	626	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	398	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	190	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	186	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

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	626	(A)₂₉=1.000	del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, 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, dup(A)₅=0.000
Allele Frequency Aggregator	European	Sub	398	(A)₂₉=1.000	del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, 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, dup(A)₅=0.000
Allele Frequency Aggregator	African	Sub	190	(A)₂₉=1.000	del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, 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, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	20	(A)₂₉=1.00	del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, 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, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	14	(A)₂₉=1.00	del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, 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, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₉=1.0	del(A)₁₈=0.0, del(A)₁₇=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₂₉=1.0	del(A)₁₈=0.0, del(A)₁₇=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₉=0	del(A)₁₈=0, del(A)₁₇=0, del(A)₁₆=0, del(A)₁₅=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
Northern Sweden	ACPOP	Study-wide	546	- No frequency provided	ins(A)₃₀=0.004

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 22	NC_000022.11:g.30400906_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400907_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400908_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400909_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400910_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400911_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400912_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400913_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400914_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400915_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400916_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400917_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400918_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400919_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400920_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400921_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400922_30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400923del
GRCh38.p14 chr 22	NC_000022.11:g.30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400922_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400921_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400920_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400919_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400918_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400916_30400923dup
GRCh38.p14 chr 22	NC_000022.11:g.30400923_30400924insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 22	NC_000022.10:g.30796895_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796896_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796897_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796898_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796899_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796900_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796901_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796902_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796903_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796904_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796905_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796906_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796907_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796908_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796909_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796910_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796911_30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796912del
GRCh37.p13 chr 22	NC_000022.10:g.30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796911_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796910_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796909_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796908_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796907_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796905_30796912dup
GRCh37.p13 chr 22	NC_000022.10:g.30796912_30796913insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: SEC14L2, SEC14 like lipid binding 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEC14L2 transcript variant 3	NM_001204204.3:c.130+1188… NM_001204204.3:c.130+1188_130+1205del	N/A	Intron Variant
SEC14L2 transcript variant 4	NM_001291932.2:c.-33+3736… NM_001291932.2:c.-33+3736_-33+3753del	N/A	Intron Variant
SEC14L2 transcript variant 1	NM_012429.5:c.130+1188_13… NM_012429.5:c.130+1188_130+1205del	N/A	Intron Variant
SEC14L2 transcript variant 2	NM_033382.3:c.130+1188_13… NM_033382.3:c.130+1188_130+1205del	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)₂₉=	del(A)₁₈	del(A)₁₇	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	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)₆	dup(A)₈	ins(A)₃₀
GRCh38.p14 chr 22	NC_000022.11:g.30400895_30400923=	NC_000022.11:g.30400906_30400923del	NC_000022.11:g.30400907_30400923del	NC_000022.11:g.30400908_30400923del	NC_000022.11:g.30400909_30400923del	NC_000022.11:g.30400910_30400923del	NC_000022.11:g.30400911_30400923del	NC_000022.11:g.30400912_30400923del	NC_000022.11:g.30400913_30400923del	NC_000022.11:g.30400914_30400923del	NC_000022.11:g.30400915_30400923del	NC_000022.11:g.30400916_30400923del	NC_000022.11:g.30400917_30400923del	NC_000022.11:g.30400918_30400923del	NC_000022.11:g.30400919_30400923del	NC_000022.11:g.30400920_30400923del	NC_000022.11:g.30400921_30400923del	NC_000022.11:g.30400922_30400923del	NC_000022.11:g.30400923del	NC_000022.11:g.30400923dup	NC_000022.11:g.30400922_30400923dup	NC_000022.11:g.30400921_30400923dup	NC_000022.11:g.30400920_30400923dup	NC_000022.11:g.30400919_30400923dup	NC_000022.11:g.30400918_30400923dup	NC_000022.11:g.30400916_30400923dup	NC_000022.11:g.30400923_30400924insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 22	NC_000022.10:g.30796884_30796912=	NC_000022.10:g.30796895_30796912del	NC_000022.10:g.30796896_30796912del	NC_000022.10:g.30796897_30796912del	NC_000022.10:g.30796898_30796912del	NC_000022.10:g.30796899_30796912del	NC_000022.10:g.30796900_30796912del	NC_000022.10:g.30796901_30796912del	NC_000022.10:g.30796902_30796912del	NC_000022.10:g.30796903_30796912del	NC_000022.10:g.30796904_30796912del	NC_000022.10:g.30796905_30796912del	NC_000022.10:g.30796906_30796912del	NC_000022.10:g.30796907_30796912del	NC_000022.10:g.30796908_30796912del	NC_000022.10:g.30796909_30796912del	NC_000022.10:g.30796910_30796912del	NC_000022.10:g.30796911_30796912del	NC_000022.10:g.30796912del	NC_000022.10:g.30796912dup	NC_000022.10:g.30796911_30796912dup	NC_000022.10:g.30796910_30796912dup	NC_000022.10:g.30796909_30796912dup	NC_000022.10:g.30796908_30796912dup	NC_000022.10:g.30796907_30796912dup	NC_000022.10:g.30796905_30796912dup	NC_000022.10:g.30796912_30796913insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 3	NM_001204204.1:c.130+1177=	NM_001204204.1:c.130+1188_130+1205del	NM_001204204.1:c.130+1189_130+1205del	NM_001204204.1:c.130+1190_130+1205del	NM_001204204.1:c.130+1191_130+1205del	NM_001204204.1:c.130+1192_130+1205del	NM_001204204.1:c.130+1193_130+1205del	NM_001204204.1:c.130+1194_130+1205del	NM_001204204.1:c.130+1195_130+1205del	NM_001204204.1:c.130+1196_130+1205del	NM_001204204.1:c.130+1197_130+1205del	NM_001204204.1:c.130+1198_130+1205del	NM_001204204.1:c.130+1199_130+1205del	NM_001204204.1:c.130+1200_130+1205del	NM_001204204.1:c.130+1201_130+1205del	NM_001204204.1:c.130+1202_130+1205del	NM_001204204.1:c.130+1203_130+1205del	NM_001204204.1:c.130+1204_130+1205del	NM_001204204.1:c.130+1205del	NM_001204204.1:c.130+1205dup	NM_001204204.1:c.130+1204_130+1205dup	NM_001204204.1:c.130+1203_130+1205dup	NM_001204204.1:c.130+1202_130+1205dup	NM_001204204.1:c.130+1201_130+1205dup	NM_001204204.1:c.130+1200_130+1205dup	NM_001204204.1:c.130+1198_130+1205dup	NM_001204204.1:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 3	NM_001204204.3:c.130+1177=	NM_001204204.3:c.130+1188_130+1205del	NM_001204204.3:c.130+1189_130+1205del	NM_001204204.3:c.130+1190_130+1205del	NM_001204204.3:c.130+1191_130+1205del	NM_001204204.3:c.130+1192_130+1205del	NM_001204204.3:c.130+1193_130+1205del	NM_001204204.3:c.130+1194_130+1205del	NM_001204204.3:c.130+1195_130+1205del	NM_001204204.3:c.130+1196_130+1205del	NM_001204204.3:c.130+1197_130+1205del	NM_001204204.3:c.130+1198_130+1205del	NM_001204204.3:c.130+1199_130+1205del	NM_001204204.3:c.130+1200_130+1205del	NM_001204204.3:c.130+1201_130+1205del	NM_001204204.3:c.130+1202_130+1205del	NM_001204204.3:c.130+1203_130+1205del	NM_001204204.3:c.130+1204_130+1205del	NM_001204204.3:c.130+1205del	NM_001204204.3:c.130+1205dup	NM_001204204.3:c.130+1204_130+1205dup	NM_001204204.3:c.130+1203_130+1205dup	NM_001204204.3:c.130+1202_130+1205dup	NM_001204204.3:c.130+1201_130+1205dup	NM_001204204.3:c.130+1200_130+1205dup	NM_001204204.3:c.130+1198_130+1205dup	NM_001204204.3:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 4	NM_001291932.2:c.-33+3725=	NM_001291932.2:c.-33+3736_-33+3753del	NM_001291932.2:c.-33+3737_-33+3753del	NM_001291932.2:c.-33+3738_-33+3753del	NM_001291932.2:c.-33+3739_-33+3753del	NM_001291932.2:c.-33+3740_-33+3753del	NM_001291932.2:c.-33+3741_-33+3753del	NM_001291932.2:c.-33+3742_-33+3753del	NM_001291932.2:c.-33+3743_-33+3753del	NM_001291932.2:c.-33+3744_-33+3753del	NM_001291932.2:c.-33+3745_-33+3753del	NM_001291932.2:c.-33+3746_-33+3753del	NM_001291932.2:c.-33+3747_-33+3753del	NM_001291932.2:c.-33+3748_-33+3753del	NM_001291932.2:c.-33+3749_-33+3753del	NM_001291932.2:c.-33+3750_-33+3753del	NM_001291932.2:c.-33+3751_-33+3753del	NM_001291932.2:c.-33+3752_-33+3753del	NM_001291932.2:c.-33+3753del	NM_001291932.2:c.-33+3753dup	NM_001291932.2:c.-33+3752_-33+3753dup	NM_001291932.2:c.-33+3751_-33+3753dup	NM_001291932.2:c.-33+3750_-33+3753dup	NM_001291932.2:c.-33+3749_-33+3753dup	NM_001291932.2:c.-33+3748_-33+3753dup	NM_001291932.2:c.-33+3746_-33+3753dup	NM_001291932.2:c.-33+3753_-33+3754insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 1	NM_012429.3:c.130+1177=	NM_012429.3:c.130+1188_130+1205del	NM_012429.3:c.130+1189_130+1205del	NM_012429.3:c.130+1190_130+1205del	NM_012429.3:c.130+1191_130+1205del	NM_012429.3:c.130+1192_130+1205del	NM_012429.3:c.130+1193_130+1205del	NM_012429.3:c.130+1194_130+1205del	NM_012429.3:c.130+1195_130+1205del	NM_012429.3:c.130+1196_130+1205del	NM_012429.3:c.130+1197_130+1205del	NM_012429.3:c.130+1198_130+1205del	NM_012429.3:c.130+1199_130+1205del	NM_012429.3:c.130+1200_130+1205del	NM_012429.3:c.130+1201_130+1205del	NM_012429.3:c.130+1202_130+1205del	NM_012429.3:c.130+1203_130+1205del	NM_012429.3:c.130+1204_130+1205del	NM_012429.3:c.130+1205del	NM_012429.3:c.130+1205dup	NM_012429.3:c.130+1204_130+1205dup	NM_012429.3:c.130+1203_130+1205dup	NM_012429.3:c.130+1202_130+1205dup	NM_012429.3:c.130+1201_130+1205dup	NM_012429.3:c.130+1200_130+1205dup	NM_012429.3:c.130+1198_130+1205dup	NM_012429.3:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 1	NM_012429.5:c.130+1177=	NM_012429.5:c.130+1188_130+1205del	NM_012429.5:c.130+1189_130+1205del	NM_012429.5:c.130+1190_130+1205del	NM_012429.5:c.130+1191_130+1205del	NM_012429.5:c.130+1192_130+1205del	NM_012429.5:c.130+1193_130+1205del	NM_012429.5:c.130+1194_130+1205del	NM_012429.5:c.130+1195_130+1205del	NM_012429.5:c.130+1196_130+1205del	NM_012429.5:c.130+1197_130+1205del	NM_012429.5:c.130+1198_130+1205del	NM_012429.5:c.130+1199_130+1205del	NM_012429.5:c.130+1200_130+1205del	NM_012429.5:c.130+1201_130+1205del	NM_012429.5:c.130+1202_130+1205del	NM_012429.5:c.130+1203_130+1205del	NM_012429.5:c.130+1204_130+1205del	NM_012429.5:c.130+1205del	NM_012429.5:c.130+1205dup	NM_012429.5:c.130+1204_130+1205dup	NM_012429.5:c.130+1203_130+1205dup	NM_012429.5:c.130+1202_130+1205dup	NM_012429.5:c.130+1201_130+1205dup	NM_012429.5:c.130+1200_130+1205dup	NM_012429.5:c.130+1198_130+1205dup	NM_012429.5:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 2	NM_033382.2:c.130+1177=	NM_033382.2:c.130+1188_130+1205del	NM_033382.2:c.130+1189_130+1205del	NM_033382.2:c.130+1190_130+1205del	NM_033382.2:c.130+1191_130+1205del	NM_033382.2:c.130+1192_130+1205del	NM_033382.2:c.130+1193_130+1205del	NM_033382.2:c.130+1194_130+1205del	NM_033382.2:c.130+1195_130+1205del	NM_033382.2:c.130+1196_130+1205del	NM_033382.2:c.130+1197_130+1205del	NM_033382.2:c.130+1198_130+1205del	NM_033382.2:c.130+1199_130+1205del	NM_033382.2:c.130+1200_130+1205del	NM_033382.2:c.130+1201_130+1205del	NM_033382.2:c.130+1202_130+1205del	NM_033382.2:c.130+1203_130+1205del	NM_033382.2:c.130+1204_130+1205del	NM_033382.2:c.130+1205del	NM_033382.2:c.130+1205dup	NM_033382.2:c.130+1204_130+1205dup	NM_033382.2:c.130+1203_130+1205dup	NM_033382.2:c.130+1202_130+1205dup	NM_033382.2:c.130+1201_130+1205dup	NM_033382.2:c.130+1200_130+1205dup	NM_033382.2:c.130+1198_130+1205dup	NM_033382.2:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 2	NM_033382.3:c.130+1177=	NM_033382.3:c.130+1188_130+1205del	NM_033382.3:c.130+1189_130+1205del	NM_033382.3:c.130+1190_130+1205del	NM_033382.3:c.130+1191_130+1205del	NM_033382.3:c.130+1192_130+1205del	NM_033382.3:c.130+1193_130+1205del	NM_033382.3:c.130+1194_130+1205del	NM_033382.3:c.130+1195_130+1205del	NM_033382.3:c.130+1196_130+1205del	NM_033382.3:c.130+1197_130+1205del	NM_033382.3:c.130+1198_130+1205del	NM_033382.3:c.130+1199_130+1205del	NM_033382.3:c.130+1200_130+1205del	NM_033382.3:c.130+1201_130+1205del	NM_033382.3:c.130+1202_130+1205del	NM_033382.3:c.130+1203_130+1205del	NM_033382.3:c.130+1204_130+1205del	NM_033382.3:c.130+1205del	NM_033382.3:c.130+1205dup	NM_033382.3:c.130+1204_130+1205dup	NM_033382.3:c.130+1203_130+1205dup	NM_033382.3:c.130+1202_130+1205dup	NM_033382.3:c.130+1201_130+1205dup	NM_033382.3:c.130+1200_130+1205dup	NM_033382.3:c.130+1198_130+1205dup	NM_033382.3:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X1	XM_005261425.1:c.-33+3725=	XM_005261425.1:c.-33+3736_-33+3753del	XM_005261425.1:c.-33+3737_-33+3753del	XM_005261425.1:c.-33+3738_-33+3753del	XM_005261425.1:c.-33+3739_-33+3753del	XM_005261425.1:c.-33+3740_-33+3753del	XM_005261425.1:c.-33+3741_-33+3753del	XM_005261425.1:c.-33+3742_-33+3753del	XM_005261425.1:c.-33+3743_-33+3753del	XM_005261425.1:c.-33+3744_-33+3753del	XM_005261425.1:c.-33+3745_-33+3753del	XM_005261425.1:c.-33+3746_-33+3753del	XM_005261425.1:c.-33+3747_-33+3753del	XM_005261425.1:c.-33+3748_-33+3753del	XM_005261425.1:c.-33+3749_-33+3753del	XM_005261425.1:c.-33+3750_-33+3753del	XM_005261425.1:c.-33+3751_-33+3753del	XM_005261425.1:c.-33+3752_-33+3753del	XM_005261425.1:c.-33+3753del	XM_005261425.1:c.-33+3753dup	XM_005261425.1:c.-33+3752_-33+3753dup	XM_005261425.1:c.-33+3751_-33+3753dup	XM_005261425.1:c.-33+3750_-33+3753dup	XM_005261425.1:c.-33+3749_-33+3753dup	XM_005261425.1:c.-33+3748_-33+3753dup	XM_005261425.1:c.-33+3746_-33+3753dup	XM_005261425.1:c.-33+3753_-33+3754insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X2	XM_005261426.1:c.-33+3725=	XM_005261426.1:c.-33+3736_-33+3753del	XM_005261426.1:c.-33+3737_-33+3753del	XM_005261426.1:c.-33+3738_-33+3753del	XM_005261426.1:c.-33+3739_-33+3753del	XM_005261426.1:c.-33+3740_-33+3753del	XM_005261426.1:c.-33+3741_-33+3753del	XM_005261426.1:c.-33+3742_-33+3753del	XM_005261426.1:c.-33+3743_-33+3753del	XM_005261426.1:c.-33+3744_-33+3753del	XM_005261426.1:c.-33+3745_-33+3753del	XM_005261426.1:c.-33+3746_-33+3753del	XM_005261426.1:c.-33+3747_-33+3753del	XM_005261426.1:c.-33+3748_-33+3753del	XM_005261426.1:c.-33+3749_-33+3753del	XM_005261426.1:c.-33+3750_-33+3753del	XM_005261426.1:c.-33+3751_-33+3753del	XM_005261426.1:c.-33+3752_-33+3753del	XM_005261426.1:c.-33+3753del	XM_005261426.1:c.-33+3753dup	XM_005261426.1:c.-33+3752_-33+3753dup	XM_005261426.1:c.-33+3751_-33+3753dup	XM_005261426.1:c.-33+3750_-33+3753dup	XM_005261426.1:c.-33+3749_-33+3753dup	XM_005261426.1:c.-33+3748_-33+3753dup	XM_005261426.1:c.-33+3746_-33+3753dup	XM_005261426.1:c.-33+3753_-33+3754insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X3	XM_005261427.1:c.130+1177=	XM_005261427.1:c.130+1188_130+1205del	XM_005261427.1:c.130+1189_130+1205del	XM_005261427.1:c.130+1190_130+1205del	XM_005261427.1:c.130+1191_130+1205del	XM_005261427.1:c.130+1192_130+1205del	XM_005261427.1:c.130+1193_130+1205del	XM_005261427.1:c.130+1194_130+1205del	XM_005261427.1:c.130+1195_130+1205del	XM_005261427.1:c.130+1196_130+1205del	XM_005261427.1:c.130+1197_130+1205del	XM_005261427.1:c.130+1198_130+1205del	XM_005261427.1:c.130+1199_130+1205del	XM_005261427.1:c.130+1200_130+1205del	XM_005261427.1:c.130+1201_130+1205del	XM_005261427.1:c.130+1202_130+1205del	XM_005261427.1:c.130+1203_130+1205del	XM_005261427.1:c.130+1204_130+1205del	XM_005261427.1:c.130+1205del	XM_005261427.1:c.130+1205dup	XM_005261427.1:c.130+1204_130+1205dup	XM_005261427.1:c.130+1203_130+1205dup	XM_005261427.1:c.130+1202_130+1205dup	XM_005261427.1:c.130+1201_130+1205dup	XM_005261427.1:c.130+1200_130+1205dup	XM_005261427.1:c.130+1198_130+1205dup	XM_005261427.1:c.130+1205_130+1206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

35 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3019230771	Nov 08, 2017 (151)
2	MCHAISSO	ss3064885239	Nov 08, 2017 (151)
3	EVA_DECODE	ss3708110319	Jul 13, 2019 (153)
4	EVA_DECODE	ss3708110320	Jul 13, 2019 (153)
5	EVA_DECODE	ss3708110321	Jul 13, 2019 (153)
6	EVA_DECODE	ss3708110322	Jul 13, 2019 (153)
7	ACPOP	ss3743893435	Jul 13, 2019 (153)
8	EVA	ss3835967842	Apr 27, 2020 (154)
9	GNOMAD	ss4363863920	Apr 26, 2021 (155)
10	GNOMAD	ss4363863921	Apr 26, 2021 (155)
11	GNOMAD	ss4363863922	Apr 26, 2021 (155)
12	GNOMAD	ss4363863923	Apr 26, 2021 (155)
13	GNOMAD	ss4363863924	Apr 26, 2021 (155)
14	GNOMAD	ss4363863925	Apr 26, 2021 (155)
15	GNOMAD	ss4363863926	Apr 26, 2021 (155)
16	GNOMAD	ss4363863927	Apr 26, 2021 (155)
17	GNOMAD	ss4363863928	Apr 26, 2021 (155)
18	GNOMAD	ss4363863929	Apr 26, 2021 (155)
19	GNOMAD	ss4363863930	Apr 26, 2021 (155)
20	GNOMAD	ss4363863931	Apr 26, 2021 (155)
21	GNOMAD	ss4363863932	Apr 26, 2021 (155)
22	GNOMAD	ss4363863933	Apr 26, 2021 (155)
23	GNOMAD	ss4363863934	Apr 26, 2021 (155)
24	GNOMAD	ss4363863935	Apr 26, 2021 (155)
25	GNOMAD	ss4363863936	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5232426457	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5232426458	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5232426459	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5232426460	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5232426461	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5793484354	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5793484355	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5793484356	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5793484357	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5793484358	Oct 16, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737683 (NC_000022.11:30400894::A 41/46392) Row 568737684 (NC_000022.11:30400894::AA 375/46398) Row 568737685 (NC_000022.11:30400894::AAA 34/46396)...	-	Apr 26, 2021 (155)
53	Northern Sweden	NC_000022.10 - 30796884	Jul 13, 2019 (153)
54	8.3KJPN Submission ignored due to conflicting rows: Row 90395764 (NC_000022.10:30796883:AAA: 2333/14468) Row 90395765 (NC_000022.10:30796883:A: 1056/14468) Row 90395766 (NC_000022.10:30796883:AA: 2846/14468)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 90395764 (NC_000022.10:30796883:AAA: 2333/14468) Row 90395765 (NC_000022.10:30796883:A: 1056/14468) Row 90395766 (NC_000022.10:30796883:AA: 2846/14468)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 90395764 (NC_000022.10:30796883:AAA: 2333/14468) Row 90395765 (NC_000022.10:30796883:A: 1056/14468) Row 90395766 (NC_000022.10:30796883:AA: 2846/14468)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 90395764 (NC_000022.10:30796883:AAA: 2333/14468) Row 90395765 (NC_000022.10:30796883:A: 1056/14468) Row 90395766 (NC_000022.10:30796883:AA: 2846/14468)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 90395764 (NC_000022.10:30796883:AAA: 2333/14468) Row 90395765 (NC_000022.10:30796883:A: 1056/14468) Row 90395766 (NC_000022.10:30796883:AA: 2846/14468)...	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 127321458 (NC_000022.11:30400894:AAA: 6195/25928) Row 127321459 (NC_000022.11:30400894:AA: 7589/25928) Row 127321460 (NC_000022.11:30400894:A: 2928/25928)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 127321458 (NC_000022.11:30400894:AAA: 6195/25928) Row 127321459 (NC_000022.11:30400894:AA: 7589/25928) Row 127321460 (NC_000022.11:30400894:A: 2928/25928)...	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 127321458 (NC_000022.11:30400894:AAA: 6195/25928) Row 127321459 (NC_000022.11:30400894:AA: 7589/25928) Row 127321460 (NC_000022.11:30400894:A: 2928/25928)...	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 127321458 (NC_000022.11:30400894:AAA: 6195/25928) Row 127321459 (NC_000022.11:30400894:AA: 7589/25928) Row 127321460 (NC_000022.11:30400894:A: 2928/25928)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 127321458 (NC_000022.11:30400894:AAA: 6195/25928) Row 127321459 (NC_000022.11:30400894:AA: 7589/25928) Row 127321460 (NC_000022.11:30400894:A: 2928/25928)...	-	Oct 16, 2022 (156)
64	ALFA	NC_000022.11 - 30400895	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4363863936	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3019230771	NC_000022.10:30796883:AAAAAAAAAAAA… NC_000022.10:30796883:AAAAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4363863935	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4363863934	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4363863933	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4363863932	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4363863931	NC_000022.11:30400894:AAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4363863930	NC_000022.11:30400894:AAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5232426460	NC_000022.10:30796883:AAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4363863929, ss5793484357	NC_000022.11:30400894:AAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4363863928	NC_000022.11:30400894:AAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4363863927	NC_000022.11:30400894:AAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5232426461	NC_000022.10:30796883:AAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5793484358	NC_000022.11:30400894:AAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5232426457	NC_000022.10:30796883:AAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064885239, ss3708110322, ss5793484354	NC_000022.11:30400894:AAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3835967842, ss5232426459	NC_000022.10:30796883:AA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5793484355	NC_000022.11:30400894:AA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110321	NC_000022.11:30400895:AA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5232426458	NC_000022.10:30796883:A:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5793484356	NC_000022.11:30400894:A:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110320	NC_000022.11:30400896:A:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863920	NC_000022.11:30400894::A	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110319	NC_000022.11:30400897::A	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863921	NC_000022.11:30400894::AA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863922	NC_000022.11:30400894::AAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863923	NC_000022.11:30400894::AAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863924	NC_000022.11:30400894::AAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3341781050	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863925	NC_000022.11:30400894::AAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863926	NC_000022.11:30400894::AAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
17178300, ss3743893435	NC_000022.10:30796883::AAAAAAAAAAA… NC_000022.10:30796883::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3376065044	NC_000022.11:30400894:AAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
ss3376065045	NC_000022.11:30400894:AAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
ss3376065056	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAA:	NC_000022.11:30400894:AAAAAAAAAAAA… NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

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

No publications for rs1185861063

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

rs1185861063