Name: rs571521172
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.

rs571521172

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:96617558-96617573 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00054 (10/18376, ALFA)
dupA=0.005 (3/600, NorthernSweden)
dupA=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KANSL3 : 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	HTRZ	HWEP
Total	Global	18376	AAAAAAAAAAAAAAAA=0.99946	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00054, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000	0.998912	0.001088	0
European	Sub	14066	AAAAAAAAAAAAAAAA=0.99929	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00071, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000	0.998578	0.001422	0
African	Sub	2850	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
African Others	Sub	112	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
African American	Sub	2738	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
Asian	Sub	112	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
East Asian	Sub	86	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
Latin American 2	Sub	606	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
South Asian	Sub	98	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other	Sub	498	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	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	18376	(A)₁₆=0.99946	del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00054, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	14066	(A)₁₆=0.99929	del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00071, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator	African	Sub	2850	(A)₁₆=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	606	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	498	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	112	(A)₁₆=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(A)₁₆=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupA=0.005
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.15

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.96617570_96617573del
GRCh38.p14 chr 2	NC_000002.12:g.96617571_96617573del
GRCh38.p14 chr 2	NC_000002.12:g.96617572_96617573del
GRCh38.p14 chr 2	NC_000002.12:g.96617573del
GRCh38.p14 chr 2	NC_000002.12:g.96617573dup
GRCh38.p14 chr 2	NC_000002.12:g.96617572_96617573dup
GRCh38.p14 chr 2	NC_000002.12:g.96617571_96617573dup
GRCh37.p13 chr 2	NC_000002.11:g.97283307_97283310del
GRCh37.p13 chr 2	NC_000002.11:g.97283308_97283310del
GRCh37.p13 chr 2	NC_000002.11:g.97283309_97283310del
GRCh37.p13 chr 2	NC_000002.11:g.97283310del
GRCh37.p13 chr 2	NC_000002.11:g.97283310dup
GRCh37.p13 chr 2	NC_000002.11:g.97283309_97283310dup
GRCh37.p13 chr 2	NC_000002.11:g.97283308_97283310dup

Gene: KANSL3, KAT8 regulatory NSL complex subunit 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KANSL3 transcript variant 1	NM_001115016.3:c.663+1798… NM_001115016.3:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant 8	NM_001349256.2:c.663+1798… NM_001349256.2:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant 9	NM_001349257.2:c.663+1798… NM_001349257.2:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant 10	NM_001349258.2:c.663+1798… NM_001349258.2:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant 11	NM_001349259.2:c.402+1798… NM_001349259.2:c.402+1798_402+1801del	N/A	Intron Variant
KANSL3 transcript variant 12	NM_001349260.2:c.45+1798_… NM_001349260.2:c.45+1798_45+1801del	N/A	Intron Variant
KANSL3 transcript variant 13	NM_001349261.2:c.-75+1798… NM_001349261.2:c.-75+1798_-75+1801del	N/A	Intron Variant
KANSL3 transcript variant 14	NM_001349262.2:c.-21-3942… NM_001349262.2:c.-21-3942_-21-3939del	N/A	Intron Variant
KANSL3 transcript variant 2	NR_047653.2:n.	N/A	Intron Variant
KANSL3 transcript variant 3	NR_047654.2:n.	N/A	Intron Variant
KANSL3 transcript variant 4	NR_047655.2:n.	N/A	Intron Variant
KANSL3 transcript variant 5	NR_047656.2:n.	N/A	Intron Variant
KANSL3 transcript variant 6	NR_047657.2:n.	N/A	Intron Variant
KANSL3 transcript variant 7	NR_047658.2:n.	N/A	Intron Variant
KANSL3 transcript variant 15	NR_146098.2:n.	N/A	Intron Variant
KANSL3 transcript variant 16	NR_146099.2:n.	N/A	Intron Variant
KANSL3 transcript variant 17	NR_146100.2:n.	N/A	Intron Variant
KANSL3 transcript variant 18	NR_146101.2:n.	N/A	Intron Variant
KANSL3 transcript variant 19	NR_146102.2:n.	N/A	Intron Variant
KANSL3 transcript variant X20	XM_005263987.2:c.663+1798… XM_005263987.2:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X1	XM_011511454.4:c.663+1798… XM_011511454.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X4	XM_011511455.4:c.663+1798… XM_011511455.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X5	XM_011511456.4:c.663+1798… XM_011511456.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X3	XM_011511457.4:c.663+1798… XM_011511457.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X7	XM_011511458.4:c.663+1798… XM_011511458.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X9	XM_011511459.4:c.663+1798… XM_011511459.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X10	XM_011511460.4:c.663+1798… XM_011511460.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X12	XM_011511461.4:c.663+1798… XM_011511461.4:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X25	XM_011511462.4:c.492+1798… XM_011511462.4:c.492+1798_492+1801del	N/A	Intron Variant
KANSL3 transcript variant X2	XM_047444995.1:c.663+1798… XM_047444995.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X6	XM_047444996.1:c.663+1798… XM_047444996.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X8	XM_047444998.1:c.663+1798… XM_047444998.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X11	XM_047445005.1:c.663+1798… XM_047445005.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X13	XM_047445006.1:c.663+1798… XM_047445006.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X14	XM_047445007.1:c.663+1798… XM_047445007.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X15	XM_047445010.1:c.663+1798… XM_047445010.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X16	XM_047445012.1:c.663+1798… XM_047445012.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X17	XM_047445013.1:c.663+1798… XM_047445013.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X18	XM_047445015.1:c.663+1798… XM_047445015.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X19	XM_047445018.1:c.663+1798… XM_047445018.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X21	XM_047445021.1:c.663+1798… XM_047445021.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X22	XM_047445024.1:c.663+1798… XM_047445024.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X23	XM_047445028.1:c.663+1798… XM_047445028.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X24	XM_047445030.1:c.663+1798… XM_047445030.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X26	XM_047445031.1:c.663+1798… XM_047445031.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X27	XM_047445032.1:c.492+1798… XM_047445032.1:c.492+1798_492+1801del	N/A	Intron Variant
KANSL3 transcript variant X28	XM_047445033.1:c.492+1798… XM_047445033.1:c.492+1798_492+1801del	N/A	Intron Variant
KANSL3 transcript variant X29	XM_047445034.1:c.264+1798… XM_047445034.1:c.264+1798_264+1801del	N/A	Intron Variant
KANSL3 transcript variant X30	XM_047445035.1:c.663+1798… XM_047445035.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X31	XM_047445039.1:c.663+1798… XM_047445039.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X32	XM_047445042.1:c.45+1798_… XM_047445042.1:c.45+1798_45+1801del	N/A	Intron Variant
KANSL3 transcript variant X33	XM_047445043.1:c.-75+1798… XM_047445043.1:c.-75+1798_-75+1801del	N/A	Intron Variant
KANSL3 transcript variant X34	XM_047445046.1:c.-21-3942… XM_047445046.1:c.-21-3942_-21-3939del	N/A	Intron Variant
KANSL3 transcript variant X35	XM_047445047.1:c.-75+1798… XM_047445047.1:c.-75+1798_-75+1801del	N/A	Intron Variant
KANSL3 transcript variant X36	XM_047445048.1:c.-75+1798… XM_047445048.1:c.-75+1798_-75+1801del	N/A	Intron Variant
KANSL3 transcript variant X37	XM_047445049.1:c.663+1798… XM_047445049.1:c.663+1798_663+1801del	N/A	Intron Variant
KANSL3 transcript variant X38	XM_047445052.1:c.663+1798… XM_047445052.1:c.663+1798_663+1801del	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)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 2	NC_000002.12:g.96617558_96617573=	NC_000002.12:g.96617570_96617573del	NC_000002.12:g.96617571_96617573del	NC_000002.12:g.96617572_96617573del	NC_000002.12:g.96617573del	NC_000002.12:g.96617573dup	NC_000002.12:g.96617572_96617573dup	NC_000002.12:g.96617571_96617573dup
GRCh37.p13 chr 2	NC_000002.11:g.97283295_97283310=	NC_000002.11:g.97283307_97283310del	NC_000002.11:g.97283308_97283310del	NC_000002.11:g.97283309_97283310del	NC_000002.11:g.97283310del	NC_000002.11:g.97283310dup	NC_000002.11:g.97283309_97283310dup	NC_000002.11:g.97283308_97283310dup
KANSL3 transcript variant 1	NM_001115016.2:c.663+1801=	NM_001115016.2:c.663+1798_663+1801del	NM_001115016.2:c.663+1799_663+1801del	NM_001115016.2:c.663+1800_663+1801del	NM_001115016.2:c.663+1801del	NM_001115016.2:c.663+1801dup	NM_001115016.2:c.663+1800_663+1801dup	NM_001115016.2:c.663+1799_663+1801dup
KANSL3 transcript variant 1	NM_001115016.3:c.663+1801=	NM_001115016.3:c.663+1798_663+1801del	NM_001115016.3:c.663+1799_663+1801del	NM_001115016.3:c.663+1800_663+1801del	NM_001115016.3:c.663+1801del	NM_001115016.3:c.663+1801dup	NM_001115016.3:c.663+1800_663+1801dup	NM_001115016.3:c.663+1799_663+1801dup
KANSL3 transcript variant 8	NM_001349256.2:c.663+1801=	NM_001349256.2:c.663+1798_663+1801del	NM_001349256.2:c.663+1799_663+1801del	NM_001349256.2:c.663+1800_663+1801del	NM_001349256.2:c.663+1801del	NM_001349256.2:c.663+1801dup	NM_001349256.2:c.663+1800_663+1801dup	NM_001349256.2:c.663+1799_663+1801dup
KANSL3 transcript variant 9	NM_001349257.2:c.663+1801=	NM_001349257.2:c.663+1798_663+1801del	NM_001349257.2:c.663+1799_663+1801del	NM_001349257.2:c.663+1800_663+1801del	NM_001349257.2:c.663+1801del	NM_001349257.2:c.663+1801dup	NM_001349257.2:c.663+1800_663+1801dup	NM_001349257.2:c.663+1799_663+1801dup
KANSL3 transcript variant 10	NM_001349258.2:c.663+1801=	NM_001349258.2:c.663+1798_663+1801del	NM_001349258.2:c.663+1799_663+1801del	NM_001349258.2:c.663+1800_663+1801del	NM_001349258.2:c.663+1801del	NM_001349258.2:c.663+1801dup	NM_001349258.2:c.663+1800_663+1801dup	NM_001349258.2:c.663+1799_663+1801dup
KANSL3 transcript variant 11	NM_001349259.2:c.402+1801=	NM_001349259.2:c.402+1798_402+1801del	NM_001349259.2:c.402+1799_402+1801del	NM_001349259.2:c.402+1800_402+1801del	NM_001349259.2:c.402+1801del	NM_001349259.2:c.402+1801dup	NM_001349259.2:c.402+1800_402+1801dup	NM_001349259.2:c.402+1799_402+1801dup
KANSL3 transcript variant 12	NM_001349260.2:c.45+1801=	NM_001349260.2:c.45+1798_45+1801del	NM_001349260.2:c.45+1799_45+1801del	NM_001349260.2:c.45+1800_45+1801del	NM_001349260.2:c.45+1801del	NM_001349260.2:c.45+1801dup	NM_001349260.2:c.45+1800_45+1801dup	NM_001349260.2:c.45+1799_45+1801dup
KANSL3 transcript variant 13	NM_001349261.2:c.-75+1801=	NM_001349261.2:c.-75+1798_-75+1801del	NM_001349261.2:c.-75+1799_-75+1801del	NM_001349261.2:c.-75+1800_-75+1801del	NM_001349261.2:c.-75+1801del	NM_001349261.2:c.-75+1801dup	NM_001349261.2:c.-75+1800_-75+1801dup	NM_001349261.2:c.-75+1799_-75+1801dup
KANSL3 transcript variant 14	NM_001349262.2:c.-21-3939=	NM_001349262.2:c.-21-3942_-21-3939del	NM_001349262.2:c.-21-3941_-21-3939del	NM_001349262.2:c.-21-3940_-21-3939del	NM_001349262.2:c.-21-3939del	NM_001349262.2:c.-21-3939dup	NM_001349262.2:c.-21-3940_-21-3939dup	NM_001349262.2:c.-21-3941_-21-3939dup
KANSL3 transcript variant X1	XM_005263980.1:c.663+1801=	XM_005263980.1:c.663+1798_663+1801del	XM_005263980.1:c.663+1799_663+1801del	XM_005263980.1:c.663+1800_663+1801del	XM_005263980.1:c.663+1801del	XM_005263980.1:c.663+1801dup	XM_005263980.1:c.663+1800_663+1801dup	XM_005263980.1:c.663+1799_663+1801dup
KANSL3 transcript variant X2	XM_005263981.1:c.663+1801=	XM_005263981.1:c.663+1798_663+1801del	XM_005263981.1:c.663+1799_663+1801del	XM_005263981.1:c.663+1800_663+1801del	XM_005263981.1:c.663+1801del	XM_005263981.1:c.663+1801dup	XM_005263981.1:c.663+1800_663+1801dup	XM_005263981.1:c.663+1799_663+1801dup
KANSL3 transcript variant X3	XM_005263982.1:c.663+1801=	XM_005263982.1:c.663+1798_663+1801del	XM_005263982.1:c.663+1799_663+1801del	XM_005263982.1:c.663+1800_663+1801del	XM_005263982.1:c.663+1801del	XM_005263982.1:c.663+1801dup	XM_005263982.1:c.663+1800_663+1801dup	XM_005263982.1:c.663+1799_663+1801dup
KANSL3 transcript variant X4	XM_005263983.1:c.663+1801=	XM_005263983.1:c.663+1798_663+1801del	XM_005263983.1:c.663+1799_663+1801del	XM_005263983.1:c.663+1800_663+1801del	XM_005263983.1:c.663+1801del	XM_005263983.1:c.663+1801dup	XM_005263983.1:c.663+1800_663+1801dup	XM_005263983.1:c.663+1799_663+1801dup
KANSL3 transcript variant X7	XM_005263984.1:c.663+1801=	XM_005263984.1:c.663+1798_663+1801del	XM_005263984.1:c.663+1799_663+1801del	XM_005263984.1:c.663+1800_663+1801del	XM_005263984.1:c.663+1801del	XM_005263984.1:c.663+1801dup	XM_005263984.1:c.663+1800_663+1801dup	XM_005263984.1:c.663+1799_663+1801dup
KANSL3 transcript variant X6	XM_005263985.1:c.663+1801=	XM_005263985.1:c.663+1798_663+1801del	XM_005263985.1:c.663+1799_663+1801del	XM_005263985.1:c.663+1800_663+1801del	XM_005263985.1:c.663+1801del	XM_005263985.1:c.663+1801dup	XM_005263985.1:c.663+1800_663+1801dup	XM_005263985.1:c.663+1799_663+1801dup
KANSL3 transcript variant X7	XM_005263986.1:c.663+1801=	XM_005263986.1:c.663+1798_663+1801del	XM_005263986.1:c.663+1799_663+1801del	XM_005263986.1:c.663+1800_663+1801del	XM_005263986.1:c.663+1801del	XM_005263986.1:c.663+1801dup	XM_005263986.1:c.663+1800_663+1801dup	XM_005263986.1:c.663+1799_663+1801dup
KANSL3 transcript variant X10	XM_005263987.1:c.663+1801=	XM_005263987.1:c.663+1798_663+1801del	XM_005263987.1:c.663+1799_663+1801del	XM_005263987.1:c.663+1800_663+1801del	XM_005263987.1:c.663+1801del	XM_005263987.1:c.663+1801dup	XM_005263987.1:c.663+1800_663+1801dup	XM_005263987.1:c.663+1799_663+1801dup
KANSL3 transcript variant X20	XM_005263987.2:c.663+1801=	XM_005263987.2:c.663+1798_663+1801del	XM_005263987.2:c.663+1799_663+1801del	XM_005263987.2:c.663+1800_663+1801del	XM_005263987.2:c.663+1801del	XM_005263987.2:c.663+1801dup	XM_005263987.2:c.663+1800_663+1801dup	XM_005263987.2:c.663+1799_663+1801dup
KANSL3 transcript variant X9	XM_005263988.1:c.402+1801=	XM_005263988.1:c.402+1798_402+1801del	XM_005263988.1:c.402+1799_402+1801del	XM_005263988.1:c.402+1800_402+1801del	XM_005263988.1:c.402+1801del	XM_005263988.1:c.402+1801dup	XM_005263988.1:c.402+1800_402+1801dup	XM_005263988.1:c.402+1799_402+1801dup
KANSL3 transcript variant X10	XM_005263989.1:c.402+1801=	XM_005263989.1:c.402+1798_402+1801del	XM_005263989.1:c.402+1799_402+1801del	XM_005263989.1:c.402+1800_402+1801del	XM_005263989.1:c.402+1801del	XM_005263989.1:c.402+1801dup	XM_005263989.1:c.402+1800_402+1801dup	XM_005263989.1:c.402+1799_402+1801dup
KANSL3 transcript variant X11	XM_005263990.1:c.402+1801=	XM_005263990.1:c.402+1798_402+1801del	XM_005263990.1:c.402+1799_402+1801del	XM_005263990.1:c.402+1800_402+1801del	XM_005263990.1:c.402+1801del	XM_005263990.1:c.402+1801dup	XM_005263990.1:c.402+1800_402+1801dup	XM_005263990.1:c.402+1799_402+1801dup
KANSL3 transcript variant X12	XM_005263991.1:c.327+1801=	XM_005263991.1:c.327+1798_327+1801del	XM_005263991.1:c.327+1799_327+1801del	XM_005263991.1:c.327+1800_327+1801del	XM_005263991.1:c.327+1801del	XM_005263991.1:c.327+1801dup	XM_005263991.1:c.327+1800_327+1801dup	XM_005263991.1:c.327+1799_327+1801dup
KANSL3 transcript variant X13	XM_005263992.1:c.45+1801=	XM_005263992.1:c.45+1798_45+1801del	XM_005263992.1:c.45+1799_45+1801del	XM_005263992.1:c.45+1800_45+1801del	XM_005263992.1:c.45+1801del	XM_005263992.1:c.45+1801dup	XM_005263992.1:c.45+1800_45+1801dup	XM_005263992.1:c.45+1799_45+1801dup
KANSL3 transcript variant X14	XM_005263993.1:c.45+1801=	XM_005263993.1:c.45+1798_45+1801del	XM_005263993.1:c.45+1799_45+1801del	XM_005263993.1:c.45+1800_45+1801del	XM_005263993.1:c.45+1801del	XM_005263993.1:c.45+1801dup	XM_005263993.1:c.45+1800_45+1801dup	XM_005263993.1:c.45+1799_45+1801dup
KANSL3 transcript variant X15	XM_005263994.1:c.45+1801=	XM_005263994.1:c.45+1798_45+1801del	XM_005263994.1:c.45+1799_45+1801del	XM_005263994.1:c.45+1800_45+1801del	XM_005263994.1:c.45+1801del	XM_005263994.1:c.45+1801dup	XM_005263994.1:c.45+1800_45+1801dup	XM_005263994.1:c.45+1799_45+1801dup
KANSL3 transcript variant X1	XM_011511454.4:c.663+1801=	XM_011511454.4:c.663+1798_663+1801del	XM_011511454.4:c.663+1799_663+1801del	XM_011511454.4:c.663+1800_663+1801del	XM_011511454.4:c.663+1801del	XM_011511454.4:c.663+1801dup	XM_011511454.4:c.663+1800_663+1801dup	XM_011511454.4:c.663+1799_663+1801dup
KANSL3 transcript variant X4	XM_011511455.4:c.663+1801=	XM_011511455.4:c.663+1798_663+1801del	XM_011511455.4:c.663+1799_663+1801del	XM_011511455.4:c.663+1800_663+1801del	XM_011511455.4:c.663+1801del	XM_011511455.4:c.663+1801dup	XM_011511455.4:c.663+1800_663+1801dup	XM_011511455.4:c.663+1799_663+1801dup
KANSL3 transcript variant X5	XM_011511456.4:c.663+1801=	XM_011511456.4:c.663+1798_663+1801del	XM_011511456.4:c.663+1799_663+1801del	XM_011511456.4:c.663+1800_663+1801del	XM_011511456.4:c.663+1801del	XM_011511456.4:c.663+1801dup	XM_011511456.4:c.663+1800_663+1801dup	XM_011511456.4:c.663+1799_663+1801dup
KANSL3 transcript variant X3	XM_011511457.4:c.663+1801=	XM_011511457.4:c.663+1798_663+1801del	XM_011511457.4:c.663+1799_663+1801del	XM_011511457.4:c.663+1800_663+1801del	XM_011511457.4:c.663+1801del	XM_011511457.4:c.663+1801dup	XM_011511457.4:c.663+1800_663+1801dup	XM_011511457.4:c.663+1799_663+1801dup
KANSL3 transcript variant X7	XM_011511458.4:c.663+1801=	XM_011511458.4:c.663+1798_663+1801del	XM_011511458.4:c.663+1799_663+1801del	XM_011511458.4:c.663+1800_663+1801del	XM_011511458.4:c.663+1801del	XM_011511458.4:c.663+1801dup	XM_011511458.4:c.663+1800_663+1801dup	XM_011511458.4:c.663+1799_663+1801dup
KANSL3 transcript variant X9	XM_011511459.4:c.663+1801=	XM_011511459.4:c.663+1798_663+1801del	XM_011511459.4:c.663+1799_663+1801del	XM_011511459.4:c.663+1800_663+1801del	XM_011511459.4:c.663+1801del	XM_011511459.4:c.663+1801dup	XM_011511459.4:c.663+1800_663+1801dup	XM_011511459.4:c.663+1799_663+1801dup
KANSL3 transcript variant X10	XM_011511460.4:c.663+1801=	XM_011511460.4:c.663+1798_663+1801del	XM_011511460.4:c.663+1799_663+1801del	XM_011511460.4:c.663+1800_663+1801del	XM_011511460.4:c.663+1801del	XM_011511460.4:c.663+1801dup	XM_011511460.4:c.663+1800_663+1801dup	XM_011511460.4:c.663+1799_663+1801dup
KANSL3 transcript variant X12	XM_011511461.4:c.663+1801=	XM_011511461.4:c.663+1798_663+1801del	XM_011511461.4:c.663+1799_663+1801del	XM_011511461.4:c.663+1800_663+1801del	XM_011511461.4:c.663+1801del	XM_011511461.4:c.663+1801dup	XM_011511461.4:c.663+1800_663+1801dup	XM_011511461.4:c.663+1799_663+1801dup
KANSL3 transcript variant X25	XM_011511462.4:c.492+1801=	XM_011511462.4:c.492+1798_492+1801del	XM_011511462.4:c.492+1799_492+1801del	XM_011511462.4:c.492+1800_492+1801del	XM_011511462.4:c.492+1801del	XM_011511462.4:c.492+1801dup	XM_011511462.4:c.492+1800_492+1801dup	XM_011511462.4:c.492+1799_492+1801dup
KANSL3 transcript variant X2	XM_047444995.1:c.663+1801=	XM_047444995.1:c.663+1798_663+1801del	XM_047444995.1:c.663+1799_663+1801del	XM_047444995.1:c.663+1800_663+1801del	XM_047444995.1:c.663+1801del	XM_047444995.1:c.663+1801dup	XM_047444995.1:c.663+1800_663+1801dup	XM_047444995.1:c.663+1799_663+1801dup
KANSL3 transcript variant X6	XM_047444996.1:c.663+1801=	XM_047444996.1:c.663+1798_663+1801del	XM_047444996.1:c.663+1799_663+1801del	XM_047444996.1:c.663+1800_663+1801del	XM_047444996.1:c.663+1801del	XM_047444996.1:c.663+1801dup	XM_047444996.1:c.663+1800_663+1801dup	XM_047444996.1:c.663+1799_663+1801dup
KANSL3 transcript variant X8	XM_047444998.1:c.663+1801=	XM_047444998.1:c.663+1798_663+1801del	XM_047444998.1:c.663+1799_663+1801del	XM_047444998.1:c.663+1800_663+1801del	XM_047444998.1:c.663+1801del	XM_047444998.1:c.663+1801dup	XM_047444998.1:c.663+1800_663+1801dup	XM_047444998.1:c.663+1799_663+1801dup
KANSL3 transcript variant X11	XM_047445005.1:c.663+1801=	XM_047445005.1:c.663+1798_663+1801del	XM_047445005.1:c.663+1799_663+1801del	XM_047445005.1:c.663+1800_663+1801del	XM_047445005.1:c.663+1801del	XM_047445005.1:c.663+1801dup	XM_047445005.1:c.663+1800_663+1801dup	XM_047445005.1:c.663+1799_663+1801dup
KANSL3 transcript variant X13	XM_047445006.1:c.663+1801=	XM_047445006.1:c.663+1798_663+1801del	XM_047445006.1:c.663+1799_663+1801del	XM_047445006.1:c.663+1800_663+1801del	XM_047445006.1:c.663+1801del	XM_047445006.1:c.663+1801dup	XM_047445006.1:c.663+1800_663+1801dup	XM_047445006.1:c.663+1799_663+1801dup
KANSL3 transcript variant X14	XM_047445007.1:c.663+1801=	XM_047445007.1:c.663+1798_663+1801del	XM_047445007.1:c.663+1799_663+1801del	XM_047445007.1:c.663+1800_663+1801del	XM_047445007.1:c.663+1801del	XM_047445007.1:c.663+1801dup	XM_047445007.1:c.663+1800_663+1801dup	XM_047445007.1:c.663+1799_663+1801dup
KANSL3 transcript variant X15	XM_047445010.1:c.663+1801=	XM_047445010.1:c.663+1798_663+1801del	XM_047445010.1:c.663+1799_663+1801del	XM_047445010.1:c.663+1800_663+1801del	XM_047445010.1:c.663+1801del	XM_047445010.1:c.663+1801dup	XM_047445010.1:c.663+1800_663+1801dup	XM_047445010.1:c.663+1799_663+1801dup
KANSL3 transcript variant X16	XM_047445012.1:c.663+1801=	XM_047445012.1:c.663+1798_663+1801del	XM_047445012.1:c.663+1799_663+1801del	XM_047445012.1:c.663+1800_663+1801del	XM_047445012.1:c.663+1801del	XM_047445012.1:c.663+1801dup	XM_047445012.1:c.663+1800_663+1801dup	XM_047445012.1:c.663+1799_663+1801dup
KANSL3 transcript variant X17	XM_047445013.1:c.663+1801=	XM_047445013.1:c.663+1798_663+1801del	XM_047445013.1:c.663+1799_663+1801del	XM_047445013.1:c.663+1800_663+1801del	XM_047445013.1:c.663+1801del	XM_047445013.1:c.663+1801dup	XM_047445013.1:c.663+1800_663+1801dup	XM_047445013.1:c.663+1799_663+1801dup
KANSL3 transcript variant X18	XM_047445015.1:c.663+1801=	XM_047445015.1:c.663+1798_663+1801del	XM_047445015.1:c.663+1799_663+1801del	XM_047445015.1:c.663+1800_663+1801del	XM_047445015.1:c.663+1801del	XM_047445015.1:c.663+1801dup	XM_047445015.1:c.663+1800_663+1801dup	XM_047445015.1:c.663+1799_663+1801dup
KANSL3 transcript variant X19	XM_047445018.1:c.663+1801=	XM_047445018.1:c.663+1798_663+1801del	XM_047445018.1:c.663+1799_663+1801del	XM_047445018.1:c.663+1800_663+1801del	XM_047445018.1:c.663+1801del	XM_047445018.1:c.663+1801dup	XM_047445018.1:c.663+1800_663+1801dup	XM_047445018.1:c.663+1799_663+1801dup
KANSL3 transcript variant X21	XM_047445021.1:c.663+1801=	XM_047445021.1:c.663+1798_663+1801del	XM_047445021.1:c.663+1799_663+1801del	XM_047445021.1:c.663+1800_663+1801del	XM_047445021.1:c.663+1801del	XM_047445021.1:c.663+1801dup	XM_047445021.1:c.663+1800_663+1801dup	XM_047445021.1:c.663+1799_663+1801dup
KANSL3 transcript variant X22	XM_047445024.1:c.663+1801=	XM_047445024.1:c.663+1798_663+1801del	XM_047445024.1:c.663+1799_663+1801del	XM_047445024.1:c.663+1800_663+1801del	XM_047445024.1:c.663+1801del	XM_047445024.1:c.663+1801dup	XM_047445024.1:c.663+1800_663+1801dup	XM_047445024.1:c.663+1799_663+1801dup
KANSL3 transcript variant X23	XM_047445028.1:c.663+1801=	XM_047445028.1:c.663+1798_663+1801del	XM_047445028.1:c.663+1799_663+1801del	XM_047445028.1:c.663+1800_663+1801del	XM_047445028.1:c.663+1801del	XM_047445028.1:c.663+1801dup	XM_047445028.1:c.663+1800_663+1801dup	XM_047445028.1:c.663+1799_663+1801dup
KANSL3 transcript variant X24	XM_047445030.1:c.663+1801=	XM_047445030.1:c.663+1798_663+1801del	XM_047445030.1:c.663+1799_663+1801del	XM_047445030.1:c.663+1800_663+1801del	XM_047445030.1:c.663+1801del	XM_047445030.1:c.663+1801dup	XM_047445030.1:c.663+1800_663+1801dup	XM_047445030.1:c.663+1799_663+1801dup
KANSL3 transcript variant X26	XM_047445031.1:c.663+1801=	XM_047445031.1:c.663+1798_663+1801del	XM_047445031.1:c.663+1799_663+1801del	XM_047445031.1:c.663+1800_663+1801del	XM_047445031.1:c.663+1801del	XM_047445031.1:c.663+1801dup	XM_047445031.1:c.663+1800_663+1801dup	XM_047445031.1:c.663+1799_663+1801dup
KANSL3 transcript variant X27	XM_047445032.1:c.492+1801=	XM_047445032.1:c.492+1798_492+1801del	XM_047445032.1:c.492+1799_492+1801del	XM_047445032.1:c.492+1800_492+1801del	XM_047445032.1:c.492+1801del	XM_047445032.1:c.492+1801dup	XM_047445032.1:c.492+1800_492+1801dup	XM_047445032.1:c.492+1799_492+1801dup
KANSL3 transcript variant X28	XM_047445033.1:c.492+1801=	XM_047445033.1:c.492+1798_492+1801del	XM_047445033.1:c.492+1799_492+1801del	XM_047445033.1:c.492+1800_492+1801del	XM_047445033.1:c.492+1801del	XM_047445033.1:c.492+1801dup	XM_047445033.1:c.492+1800_492+1801dup	XM_047445033.1:c.492+1799_492+1801dup
KANSL3 transcript variant X29	XM_047445034.1:c.264+1801=	XM_047445034.1:c.264+1798_264+1801del	XM_047445034.1:c.264+1799_264+1801del	XM_047445034.1:c.264+1800_264+1801del	XM_047445034.1:c.264+1801del	XM_047445034.1:c.264+1801dup	XM_047445034.1:c.264+1800_264+1801dup	XM_047445034.1:c.264+1799_264+1801dup
KANSL3 transcript variant X30	XM_047445035.1:c.663+1801=	XM_047445035.1:c.663+1798_663+1801del	XM_047445035.1:c.663+1799_663+1801del	XM_047445035.1:c.663+1800_663+1801del	XM_047445035.1:c.663+1801del	XM_047445035.1:c.663+1801dup	XM_047445035.1:c.663+1800_663+1801dup	XM_047445035.1:c.663+1799_663+1801dup
KANSL3 transcript variant X31	XM_047445039.1:c.663+1801=	XM_047445039.1:c.663+1798_663+1801del	XM_047445039.1:c.663+1799_663+1801del	XM_047445039.1:c.663+1800_663+1801del	XM_047445039.1:c.663+1801del	XM_047445039.1:c.663+1801dup	XM_047445039.1:c.663+1800_663+1801dup	XM_047445039.1:c.663+1799_663+1801dup
KANSL3 transcript variant X32	XM_047445042.1:c.45+1801=	XM_047445042.1:c.45+1798_45+1801del	XM_047445042.1:c.45+1799_45+1801del	XM_047445042.1:c.45+1800_45+1801del	XM_047445042.1:c.45+1801del	XM_047445042.1:c.45+1801dup	XM_047445042.1:c.45+1800_45+1801dup	XM_047445042.1:c.45+1799_45+1801dup
KANSL3 transcript variant X33	XM_047445043.1:c.-75+1801=	XM_047445043.1:c.-75+1798_-75+1801del	XM_047445043.1:c.-75+1799_-75+1801del	XM_047445043.1:c.-75+1800_-75+1801del	XM_047445043.1:c.-75+1801del	XM_047445043.1:c.-75+1801dup	XM_047445043.1:c.-75+1800_-75+1801dup	XM_047445043.1:c.-75+1799_-75+1801dup
KANSL3 transcript variant X34	XM_047445046.1:c.-21-3939=	XM_047445046.1:c.-21-3942_-21-3939del	XM_047445046.1:c.-21-3941_-21-3939del	XM_047445046.1:c.-21-3940_-21-3939del	XM_047445046.1:c.-21-3939del	XM_047445046.1:c.-21-3939dup	XM_047445046.1:c.-21-3940_-21-3939dup	XM_047445046.1:c.-21-3941_-21-3939dup
KANSL3 transcript variant X35	XM_047445047.1:c.-75+1801=	XM_047445047.1:c.-75+1798_-75+1801del	XM_047445047.1:c.-75+1799_-75+1801del	XM_047445047.1:c.-75+1800_-75+1801del	XM_047445047.1:c.-75+1801del	XM_047445047.1:c.-75+1801dup	XM_047445047.1:c.-75+1800_-75+1801dup	XM_047445047.1:c.-75+1799_-75+1801dup
KANSL3 transcript variant X36	XM_047445048.1:c.-75+1801=	XM_047445048.1:c.-75+1798_-75+1801del	XM_047445048.1:c.-75+1799_-75+1801del	XM_047445048.1:c.-75+1800_-75+1801del	XM_047445048.1:c.-75+1801del	XM_047445048.1:c.-75+1801dup	XM_047445048.1:c.-75+1800_-75+1801dup	XM_047445048.1:c.-75+1799_-75+1801dup
KANSL3 transcript variant X37	XM_047445049.1:c.663+1801=	XM_047445049.1:c.663+1798_663+1801del	XM_047445049.1:c.663+1799_663+1801del	XM_047445049.1:c.663+1800_663+1801del	XM_047445049.1:c.663+1801del	XM_047445049.1:c.663+1801dup	XM_047445049.1:c.663+1800_663+1801dup	XM_047445049.1:c.663+1799_663+1801dup
KANSL3 transcript variant X38	XM_047445052.1:c.663+1801=	XM_047445052.1:c.663+1798_663+1801del	XM_047445052.1:c.663+1799_663+1801del	XM_047445052.1:c.663+1800_663+1801del	XM_047445052.1:c.663+1801del	XM_047445052.1:c.663+1801dup	XM_047445052.1:c.663+1800_663+1801dup	XM_047445052.1:c.663+1799_663+1801dup

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#.

20 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947058374	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1575465387	Apr 01, 2015 (144)
3	JJLAB	ss2030429003	Sep 14, 2016 (149)
4	SWEGEN	ss2990015366	Nov 08, 2017 (151)
5	ACPOP	ss3728665793	Jul 13, 2019 (153)
6	PACBIO	ss3783932330	Jul 13, 2019 (153)
7	EVA	ss3827109391	Apr 25, 2020 (154)
8	GNOMAD	ss4046618239	Apr 27, 2021 (155)
9	GNOMAD	ss4046618240	Apr 27, 2021 (155)
10	GNOMAD	ss4046618241	Apr 27, 2021 (155)
11	GNOMAD	ss4046618242	Apr 27, 2021 (155)
12	TOPMED	ss4515696296	Apr 27, 2021 (155)
13	TOPMED	ss4515696297	Apr 27, 2021 (155)
14	TOMMO_GENOMICS	ss5152743145	Apr 27, 2021 (155)
15	TOMMO_GENOMICS	ss5152743146	Apr 27, 2021 (155)
16	1000G_HIGH_COVERAGE	ss5249160244	Oct 12, 2022 (156)
17	HUGCELL_USP	ss5449115159	Oct 12, 2022 (156)
18	HUGCELL_USP	ss5449115160	Oct 12, 2022 (156)
19	TOMMO_GENOMICS	ss5682537774	Oct 12, 2022 (156)
20	TOMMO_GENOMICS	ss5682537775	Oct 12, 2022 (156)
21	The Danish reference pan genome	NC_000002.11 - 97283295	Apr 25, 2020 (154)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66801189 (NC_000002.12:96617557::A 684/113312) Row 66801190 (NC_000002.12:96617557::AA 5/113396) Row 66801191 (NC_000002.12:96617557:A: 539/113284)...	-	Apr 27, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66801189 (NC_000002.12:96617557::A 684/113312) Row 66801190 (NC_000002.12:96617557::AA 5/113396) Row 66801191 (NC_000002.12:96617557:A: 539/113284)...	-	Apr 27, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66801189 (NC_000002.12:96617557::A 684/113312) Row 66801190 (NC_000002.12:96617557::AA 5/113396) Row 66801191 (NC_000002.12:96617557:A: 539/113284)...	-	Apr 27, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66801189 (NC_000002.12:96617557::A 684/113312) Row 66801190 (NC_000002.12:96617557::AA 5/113396) Row 66801191 (NC_000002.12:96617557:A: 539/113284)...	-	Apr 27, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66801189 (NC_000002.12:96617557::A 684/113312) Row 66801190 (NC_000002.12:96617557::AA 5/113396) Row 66801191 (NC_000002.12:96617557:A: 539/113284)...	-	Apr 27, 2021 (155)
27	Northern Sweden	NC_000002.11 - 97283295	Jul 13, 2019 (153)
28	8.3KJPN Submission ignored due to conflicting rows: Row 10712452 (NC_000002.11:97283294:A: 177/16760) Row 10712453 (NC_000002.11:97283294::A 22/16760)	-	Apr 27, 2021 (155)
29	8.3KJPN Submission ignored due to conflicting rows: Row 10712452 (NC_000002.11:97283294:A: 177/16760) Row 10712453 (NC_000002.11:97283294::A 22/16760)	-	Apr 27, 2021 (155)
30	14KJPN Submission ignored due to conflicting rows: Row 16374878 (NC_000002.12:96617557:A: 277/28254) Row 16374879 (NC_000002.12:96617557::A 33/28254)	-	Oct 12, 2022 (156)
31	14KJPN Submission ignored due to conflicting rows: Row 16374878 (NC_000002.12:96617557:A: 277/28254) Row 16374879 (NC_000002.12:96617557::A 33/28254)	-	Oct 12, 2022 (156)
32	TopMed Submission ignored due to conflicting rows: Row 319519175 (NC_000002.12:96617557::AAA 2/264690) Row 319519176 (NC_000002.12:96617557:AAA: 1/264690)	-	Apr 27, 2021 (155)
33	TopMed Submission ignored due to conflicting rows: Row 319519175 (NC_000002.12:96617557::AAA 2/264690) Row 319519176 (NC_000002.12:96617557:AAA: 1/264690)	-	Apr 27, 2021 (155)
34	ALFA	NC_000002.12 - 96617558	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)
rs975057498	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4046618242, ss4515696297	NC_000002.12:96617557:AAA:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4046618241	NC_000002.12:96617557:AA:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss2990015366, ss3783932330, ss5152743145	NC_000002.11:97283294:A:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5449115159, ss5682537774	NC_000002.12:96617557:A:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
682877, 1950658, ss1575465387, ss2030429003, ss3728665793, ss3827109391, ss5152743146	NC_000002.11:97283294::A	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947058374	NC_000002.11:97283295::A	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4046618239, ss5249160244, ss5449115160, ss5682537775	NC_000002.12:96617557::A	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4046618240	NC_000002.12:96617557::AA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4515696296	NC_000002.12:96617557::AAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6607214899	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2398627294	NC_000002.11:97283294:AA:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA
ss3316603605	NC_000002.12:96617557:AAAA:	NC_000002.12:96617557:AAAAAAAAAAAA… NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

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

No publications for rs571521172

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

rs571521172