Name: rs11348370
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.

rs11348370

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:169580495-169580516 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₀ / del(A)₉ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₇ / dup(A)₈ / ins(A)₂₄ / ins(A)₃₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₂=0.4121 (2064/5008, 1000G)
del(A)₁₄=0.00 (0/72, ALFA)
del(A)₁₃=0.00 (0/72, ALFA) (+ 12 more)
del(A)₁₂=0.00 (0/72, ALFA)
del(A)₁₀=0.00 (0/72, ALFA)
del(A)₉=0.00 (0/72, ALFA)
del(A)₅=0.00 (0/72, ALFA)
del(A)₄=0.00 (0/72, ALFA)
delAAA=0.00 (0/72, ALFA)
delAA=0.00 (0/72, ALFA)
delA=0.00 (0/72, ALFA)
dupA=0.00 (0/72, ALFA)
dupAA=0.00 (0/72, ALFA)
dup(A)₅=0.00 (0/72, ALFA)
(A)₂₂=0.38 (12/32, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NEK1 : 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	72	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	46	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	24	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	24	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=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
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.4121	delA=0.5879
1000Genomes	African	Sub	1322	(A)₂₂=0.6067	delA=0.3933
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.3155	delA=0.6845
1000Genomes	Europe	Sub	1006	(A)₂₂=0.3827	delA=0.6173
1000Genomes	South Asian	Sub	978	(A)₂₂=0.281	delA=0.719
1000Genomes	American	Sub	694	(A)₂₂=0.409	delA=0.591
Allele Frequency Aggregator	Total	Global	72	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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, dup(A)₅=0.00
Allele Frequency Aggregator	European	Sub	46	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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, dup(A)₅=0.00
Allele Frequency Aggregator	African	Sub	24	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₀=0.00, del(A)₉=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, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	2	(A)₂₂=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₀=0.0, del(A)₉=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, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₂=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₅=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₂=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₅=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₂=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₅=0
Allele Frequency Aggregator	Other	Sub	0	(A)₂₂=0	del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₀=0, del(A)₉=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₅=0
The Danish reference pan genome	Danish	Study-wide	32	(A)₂₂=0.38	delA=0.62

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 4	NC_000004.12:g.169580503_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580504_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580505_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580507_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580508_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580512_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580513_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580514_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580515_169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580516del
GRCh38.p14 chr 4	NC_000004.12:g.169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580515_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580514_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580513_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580512_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580510_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580509_169580516dup
GRCh38.p14 chr 4	NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.170501654_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501655_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501656_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501658_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501659_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501663_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501664_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501665_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501666_170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501667del
GRCh37.p13 chr 4	NC_000004.11:g.170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501666_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501665_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501664_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501663_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501661_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501660_170501667dup
GRCh37.p13 chr 4	NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NEK1 RefSeqGene	NG_027982.1:g.37120_37133del
NEK1 RefSeqGene	NG_027982.1:g.37121_37133del
NEK1 RefSeqGene	NG_027982.1:g.37122_37133del
NEK1 RefSeqGene	NG_027982.1:g.37124_37133del
NEK1 RefSeqGene	NG_027982.1:g.37125_37133del
NEK1 RefSeqGene	NG_027982.1:g.37129_37133del
NEK1 RefSeqGene	NG_027982.1:g.37130_37133del
NEK1 RefSeqGene	NG_027982.1:g.37131_37133del
NEK1 RefSeqGene	NG_027982.1:g.37132_37133del
NEK1 RefSeqGene	NG_027982.1:g.37133del
NEK1 RefSeqGene	NG_027982.1:g.37133dup
NEK1 RefSeqGene	NG_027982.1:g.37132_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37131_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37130_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37129_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37127_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37126_37133dup
NEK1 RefSeqGene	NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 RefSeqGene	NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: NEK1, NIMA related kinase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NEK1 transcript variant 1	NM_001199397.3:c.868+334_… NM_001199397.3:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 3	NM_001199398.3:c.868+334_… NM_001199398.3:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 4	NM_001199399.3:c.868+334_… NM_001199399.3:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 5	NM_001199400.3:c.868+334_… NM_001199400.3:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 6	NM_001374418.1:c.868+334_… NM_001374418.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 7	NM_001374419.1:c.868+334_… NM_001374419.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 8	NM_001374420.1:c.868+334_… NM_001374420.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 9	NM_001374421.1:c.868+334_… NM_001374421.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 10	NM_001374422.1:c.868+334_… NM_001374422.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 11	NM_001374423.1:c.868+334_… NM_001374423.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 2	NM_012224.4:c.868+334_868… NM_012224.4:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant 12	NR_164630.1:n.	N/A	Intron Variant
NEK1 transcript variant 13	NR_164631.1:n.	N/A	Intron Variant
NEK1 transcript variant X3	XM_011532004.2:c.868+334_… XM_011532004.2:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X12	XM_011532005.3:c.868+334_… XM_011532005.3:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X1	XM_047415731.1:c.868+334_… XM_047415731.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X2	XM_047415732.1:c.868+334_… XM_047415732.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X4	XM_047415733.1:c.868+334_… XM_047415733.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X5	XM_047415734.1:c.868+334_… XM_047415734.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X6	XM_047415735.1:c.868+334_… XM_047415735.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X7	XM_047415736.1:c.868+334_… XM_047415736.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X8	XM_047415737.1:c.247+334_… XM_047415737.1:c.247+334_247+347del	N/A	Intron Variant
NEK1 transcript variant X9	XM_047415738.1:c.247+334_… XM_047415738.1:c.247+334_247+347del	N/A	Intron Variant
NEK1 transcript variant X10	XM_047415739.1:c.247+334_… XM_047415739.1:c.247+334_247+347del	N/A	Intron Variant
NEK1 transcript variant X11	XM_047415740.1:c.868+334_… XM_047415740.1:c.868+334_868+347del	N/A	Intron Variant
NEK1 transcript variant X13	XM_047415741.1:c.868+334_… XM_047415741.1:c.868+334_868+347del	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)₂₂=	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₀	del(A)₉	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₇	dup(A)₈	ins(A)₂₄	ins(A)₃₄
GRCh38.p14 chr 4	NC_000004.12:g.169580495_169580516=	NC_000004.12:g.169580503_169580516del	NC_000004.12:g.169580504_169580516del	NC_000004.12:g.169580505_169580516del	NC_000004.12:g.169580507_169580516del	NC_000004.12:g.169580508_169580516del	NC_000004.12:g.169580512_169580516del	NC_000004.12:g.169580513_169580516del	NC_000004.12:g.169580514_169580516del	NC_000004.12:g.169580515_169580516del	NC_000004.12:g.169580516del	NC_000004.12:g.169580516dup	NC_000004.12:g.169580515_169580516dup	NC_000004.12:g.169580514_169580516dup	NC_000004.12:g.169580513_169580516dup	NC_000004.12:g.169580512_169580516dup	NC_000004.12:g.169580510_169580516dup	NC_000004.12:g.169580509_169580516dup	NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.170501646_170501667=	NC_000004.11:g.170501654_170501667del	NC_000004.11:g.170501655_170501667del	NC_000004.11:g.170501656_170501667del	NC_000004.11:g.170501658_170501667del	NC_000004.11:g.170501659_170501667del	NC_000004.11:g.170501663_170501667del	NC_000004.11:g.170501664_170501667del	NC_000004.11:g.170501665_170501667del	NC_000004.11:g.170501666_170501667del	NC_000004.11:g.170501667del	NC_000004.11:g.170501667dup	NC_000004.11:g.170501666_170501667dup	NC_000004.11:g.170501665_170501667dup	NC_000004.11:g.170501664_170501667dup	NC_000004.11:g.170501663_170501667dup	NC_000004.11:g.170501661_170501667dup	NC_000004.11:g.170501660_170501667dup	NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NEK1 RefSeqGene	NG_027982.1:g.37112_37133=	NG_027982.1:g.37120_37133del	NG_027982.1:g.37121_37133del	NG_027982.1:g.37122_37133del	NG_027982.1:g.37124_37133del	NG_027982.1:g.37125_37133del	NG_027982.1:g.37129_37133del	NG_027982.1:g.37130_37133del	NG_027982.1:g.37131_37133del	NG_027982.1:g.37132_37133del	NG_027982.1:g.37133del	NG_027982.1:g.37133dup	NG_027982.1:g.37132_37133dup	NG_027982.1:g.37131_37133dup	NG_027982.1:g.37130_37133dup	NG_027982.1:g.37129_37133dup	NG_027982.1:g.37127_37133dup	NG_027982.1:g.37126_37133dup	NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTT	NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 1	NM_001199397.1:c.868+347=	NM_001199397.1:c.868+334_868+347del	NM_001199397.1:c.868+335_868+347del	NM_001199397.1:c.868+336_868+347del	NM_001199397.1:c.868+338_868+347del	NM_001199397.1:c.868+339_868+347del	NM_001199397.1:c.868+343_868+347del	NM_001199397.1:c.868+344_868+347del	NM_001199397.1:c.868+345_868+347del	NM_001199397.1:c.868+346_868+347del	NM_001199397.1:c.868+347del	NM_001199397.1:c.868+347dup	NM_001199397.1:c.868+346_868+347dup	NM_001199397.1:c.868+345_868+347dup	NM_001199397.1:c.868+344_868+347dup	NM_001199397.1:c.868+343_868+347dup	NM_001199397.1:c.868+341_868+347dup	NM_001199397.1:c.868+340_868+347dup	NM_001199397.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199397.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 1	NM_001199397.3:c.868+347=	NM_001199397.3:c.868+334_868+347del	NM_001199397.3:c.868+335_868+347del	NM_001199397.3:c.868+336_868+347del	NM_001199397.3:c.868+338_868+347del	NM_001199397.3:c.868+339_868+347del	NM_001199397.3:c.868+343_868+347del	NM_001199397.3:c.868+344_868+347del	NM_001199397.3:c.868+345_868+347del	NM_001199397.3:c.868+346_868+347del	NM_001199397.3:c.868+347del	NM_001199397.3:c.868+347dup	NM_001199397.3:c.868+346_868+347dup	NM_001199397.3:c.868+345_868+347dup	NM_001199397.3:c.868+344_868+347dup	NM_001199397.3:c.868+343_868+347dup	NM_001199397.3:c.868+341_868+347dup	NM_001199397.3:c.868+340_868+347dup	NM_001199397.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199397.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 3	NM_001199398.1:c.868+347=	NM_001199398.1:c.868+334_868+347del	NM_001199398.1:c.868+335_868+347del	NM_001199398.1:c.868+336_868+347del	NM_001199398.1:c.868+338_868+347del	NM_001199398.1:c.868+339_868+347del	NM_001199398.1:c.868+343_868+347del	NM_001199398.1:c.868+344_868+347del	NM_001199398.1:c.868+345_868+347del	NM_001199398.1:c.868+346_868+347del	NM_001199398.1:c.868+347del	NM_001199398.1:c.868+347dup	NM_001199398.1:c.868+346_868+347dup	NM_001199398.1:c.868+345_868+347dup	NM_001199398.1:c.868+344_868+347dup	NM_001199398.1:c.868+343_868+347dup	NM_001199398.1:c.868+341_868+347dup	NM_001199398.1:c.868+340_868+347dup	NM_001199398.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199398.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 3	NM_001199398.3:c.868+347=	NM_001199398.3:c.868+334_868+347del	NM_001199398.3:c.868+335_868+347del	NM_001199398.3:c.868+336_868+347del	NM_001199398.3:c.868+338_868+347del	NM_001199398.3:c.868+339_868+347del	NM_001199398.3:c.868+343_868+347del	NM_001199398.3:c.868+344_868+347del	NM_001199398.3:c.868+345_868+347del	NM_001199398.3:c.868+346_868+347del	NM_001199398.3:c.868+347del	NM_001199398.3:c.868+347dup	NM_001199398.3:c.868+346_868+347dup	NM_001199398.3:c.868+345_868+347dup	NM_001199398.3:c.868+344_868+347dup	NM_001199398.3:c.868+343_868+347dup	NM_001199398.3:c.868+341_868+347dup	NM_001199398.3:c.868+340_868+347dup	NM_001199398.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199398.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 4	NM_001199399.1:c.868+347=	NM_001199399.1:c.868+334_868+347del	NM_001199399.1:c.868+335_868+347del	NM_001199399.1:c.868+336_868+347del	NM_001199399.1:c.868+338_868+347del	NM_001199399.1:c.868+339_868+347del	NM_001199399.1:c.868+343_868+347del	NM_001199399.1:c.868+344_868+347del	NM_001199399.1:c.868+345_868+347del	NM_001199399.1:c.868+346_868+347del	NM_001199399.1:c.868+347del	NM_001199399.1:c.868+347dup	NM_001199399.1:c.868+346_868+347dup	NM_001199399.1:c.868+345_868+347dup	NM_001199399.1:c.868+344_868+347dup	NM_001199399.1:c.868+343_868+347dup	NM_001199399.1:c.868+341_868+347dup	NM_001199399.1:c.868+340_868+347dup	NM_001199399.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199399.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 4	NM_001199399.3:c.868+347=	NM_001199399.3:c.868+334_868+347del	NM_001199399.3:c.868+335_868+347del	NM_001199399.3:c.868+336_868+347del	NM_001199399.3:c.868+338_868+347del	NM_001199399.3:c.868+339_868+347del	NM_001199399.3:c.868+343_868+347del	NM_001199399.3:c.868+344_868+347del	NM_001199399.3:c.868+345_868+347del	NM_001199399.3:c.868+346_868+347del	NM_001199399.3:c.868+347del	NM_001199399.3:c.868+347dup	NM_001199399.3:c.868+346_868+347dup	NM_001199399.3:c.868+345_868+347dup	NM_001199399.3:c.868+344_868+347dup	NM_001199399.3:c.868+343_868+347dup	NM_001199399.3:c.868+341_868+347dup	NM_001199399.3:c.868+340_868+347dup	NM_001199399.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199399.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 5	NM_001199400.1:c.868+347=	NM_001199400.1:c.868+334_868+347del	NM_001199400.1:c.868+335_868+347del	NM_001199400.1:c.868+336_868+347del	NM_001199400.1:c.868+338_868+347del	NM_001199400.1:c.868+339_868+347del	NM_001199400.1:c.868+343_868+347del	NM_001199400.1:c.868+344_868+347del	NM_001199400.1:c.868+345_868+347del	NM_001199400.1:c.868+346_868+347del	NM_001199400.1:c.868+347del	NM_001199400.1:c.868+347dup	NM_001199400.1:c.868+346_868+347dup	NM_001199400.1:c.868+345_868+347dup	NM_001199400.1:c.868+344_868+347dup	NM_001199400.1:c.868+343_868+347dup	NM_001199400.1:c.868+341_868+347dup	NM_001199400.1:c.868+340_868+347dup	NM_001199400.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199400.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 5	NM_001199400.3:c.868+347=	NM_001199400.3:c.868+334_868+347del	NM_001199400.3:c.868+335_868+347del	NM_001199400.3:c.868+336_868+347del	NM_001199400.3:c.868+338_868+347del	NM_001199400.3:c.868+339_868+347del	NM_001199400.3:c.868+343_868+347del	NM_001199400.3:c.868+344_868+347del	NM_001199400.3:c.868+345_868+347del	NM_001199400.3:c.868+346_868+347del	NM_001199400.3:c.868+347del	NM_001199400.3:c.868+347dup	NM_001199400.3:c.868+346_868+347dup	NM_001199400.3:c.868+345_868+347dup	NM_001199400.3:c.868+344_868+347dup	NM_001199400.3:c.868+343_868+347dup	NM_001199400.3:c.868+341_868+347dup	NM_001199400.3:c.868+340_868+347dup	NM_001199400.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001199400.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 6	NM_001374418.1:c.868+347=	NM_001374418.1:c.868+334_868+347del	NM_001374418.1:c.868+335_868+347del	NM_001374418.1:c.868+336_868+347del	NM_001374418.1:c.868+338_868+347del	NM_001374418.1:c.868+339_868+347del	NM_001374418.1:c.868+343_868+347del	NM_001374418.1:c.868+344_868+347del	NM_001374418.1:c.868+345_868+347del	NM_001374418.1:c.868+346_868+347del	NM_001374418.1:c.868+347del	NM_001374418.1:c.868+347dup	NM_001374418.1:c.868+346_868+347dup	NM_001374418.1:c.868+345_868+347dup	NM_001374418.1:c.868+344_868+347dup	NM_001374418.1:c.868+343_868+347dup	NM_001374418.1:c.868+341_868+347dup	NM_001374418.1:c.868+340_868+347dup	NM_001374418.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374418.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 7	NM_001374419.1:c.868+347=	NM_001374419.1:c.868+334_868+347del	NM_001374419.1:c.868+335_868+347del	NM_001374419.1:c.868+336_868+347del	NM_001374419.1:c.868+338_868+347del	NM_001374419.1:c.868+339_868+347del	NM_001374419.1:c.868+343_868+347del	NM_001374419.1:c.868+344_868+347del	NM_001374419.1:c.868+345_868+347del	NM_001374419.1:c.868+346_868+347del	NM_001374419.1:c.868+347del	NM_001374419.1:c.868+347dup	NM_001374419.1:c.868+346_868+347dup	NM_001374419.1:c.868+345_868+347dup	NM_001374419.1:c.868+344_868+347dup	NM_001374419.1:c.868+343_868+347dup	NM_001374419.1:c.868+341_868+347dup	NM_001374419.1:c.868+340_868+347dup	NM_001374419.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374419.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 8	NM_001374420.1:c.868+347=	NM_001374420.1:c.868+334_868+347del	NM_001374420.1:c.868+335_868+347del	NM_001374420.1:c.868+336_868+347del	NM_001374420.1:c.868+338_868+347del	NM_001374420.1:c.868+339_868+347del	NM_001374420.1:c.868+343_868+347del	NM_001374420.1:c.868+344_868+347del	NM_001374420.1:c.868+345_868+347del	NM_001374420.1:c.868+346_868+347del	NM_001374420.1:c.868+347del	NM_001374420.1:c.868+347dup	NM_001374420.1:c.868+346_868+347dup	NM_001374420.1:c.868+345_868+347dup	NM_001374420.1:c.868+344_868+347dup	NM_001374420.1:c.868+343_868+347dup	NM_001374420.1:c.868+341_868+347dup	NM_001374420.1:c.868+340_868+347dup	NM_001374420.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374420.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 9	NM_001374421.1:c.868+347=	NM_001374421.1:c.868+334_868+347del	NM_001374421.1:c.868+335_868+347del	NM_001374421.1:c.868+336_868+347del	NM_001374421.1:c.868+338_868+347del	NM_001374421.1:c.868+339_868+347del	NM_001374421.1:c.868+343_868+347del	NM_001374421.1:c.868+344_868+347del	NM_001374421.1:c.868+345_868+347del	NM_001374421.1:c.868+346_868+347del	NM_001374421.1:c.868+347del	NM_001374421.1:c.868+347dup	NM_001374421.1:c.868+346_868+347dup	NM_001374421.1:c.868+345_868+347dup	NM_001374421.1:c.868+344_868+347dup	NM_001374421.1:c.868+343_868+347dup	NM_001374421.1:c.868+341_868+347dup	NM_001374421.1:c.868+340_868+347dup	NM_001374421.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374421.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 10	NM_001374422.1:c.868+347=	NM_001374422.1:c.868+334_868+347del	NM_001374422.1:c.868+335_868+347del	NM_001374422.1:c.868+336_868+347del	NM_001374422.1:c.868+338_868+347del	NM_001374422.1:c.868+339_868+347del	NM_001374422.1:c.868+343_868+347del	NM_001374422.1:c.868+344_868+347del	NM_001374422.1:c.868+345_868+347del	NM_001374422.1:c.868+346_868+347del	NM_001374422.1:c.868+347del	NM_001374422.1:c.868+347dup	NM_001374422.1:c.868+346_868+347dup	NM_001374422.1:c.868+345_868+347dup	NM_001374422.1:c.868+344_868+347dup	NM_001374422.1:c.868+343_868+347dup	NM_001374422.1:c.868+341_868+347dup	NM_001374422.1:c.868+340_868+347dup	NM_001374422.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374422.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 11	NM_001374423.1:c.868+347=	NM_001374423.1:c.868+334_868+347del	NM_001374423.1:c.868+335_868+347del	NM_001374423.1:c.868+336_868+347del	NM_001374423.1:c.868+338_868+347del	NM_001374423.1:c.868+339_868+347del	NM_001374423.1:c.868+343_868+347del	NM_001374423.1:c.868+344_868+347del	NM_001374423.1:c.868+345_868+347del	NM_001374423.1:c.868+346_868+347del	NM_001374423.1:c.868+347del	NM_001374423.1:c.868+347dup	NM_001374423.1:c.868+346_868+347dup	NM_001374423.1:c.868+345_868+347dup	NM_001374423.1:c.868+344_868+347dup	NM_001374423.1:c.868+343_868+347dup	NM_001374423.1:c.868+341_868+347dup	NM_001374423.1:c.868+340_868+347dup	NM_001374423.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001374423.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 2	NM_012224.2:c.868+347=	NM_012224.2:c.868+334_868+347del	NM_012224.2:c.868+335_868+347del	NM_012224.2:c.868+336_868+347del	NM_012224.2:c.868+338_868+347del	NM_012224.2:c.868+339_868+347del	NM_012224.2:c.868+343_868+347del	NM_012224.2:c.868+344_868+347del	NM_012224.2:c.868+345_868+347del	NM_012224.2:c.868+346_868+347del	NM_012224.2:c.868+347del	NM_012224.2:c.868+347dup	NM_012224.2:c.868+346_868+347dup	NM_012224.2:c.868+345_868+347dup	NM_012224.2:c.868+344_868+347dup	NM_012224.2:c.868+343_868+347dup	NM_012224.2:c.868+341_868+347dup	NM_012224.2:c.868+340_868+347dup	NM_012224.2:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_012224.2:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant 2	NM_012224.4:c.868+347=	NM_012224.4:c.868+334_868+347del	NM_012224.4:c.868+335_868+347del	NM_012224.4:c.868+336_868+347del	NM_012224.4:c.868+338_868+347del	NM_012224.4:c.868+339_868+347del	NM_012224.4:c.868+343_868+347del	NM_012224.4:c.868+344_868+347del	NM_012224.4:c.868+345_868+347del	NM_012224.4:c.868+346_868+347del	NM_012224.4:c.868+347del	NM_012224.4:c.868+347dup	NM_012224.4:c.868+346_868+347dup	NM_012224.4:c.868+345_868+347dup	NM_012224.4:c.868+344_868+347dup	NM_012224.4:c.868+343_868+347dup	NM_012224.4:c.868+341_868+347dup	NM_012224.4:c.868+340_868+347dup	NM_012224.4:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	NM_012224.4:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X1	XM_005263027.1:c.868+347=	XM_005263027.1:c.868+334_868+347del	XM_005263027.1:c.868+335_868+347del	XM_005263027.1:c.868+336_868+347del	XM_005263027.1:c.868+338_868+347del	XM_005263027.1:c.868+339_868+347del	XM_005263027.1:c.868+343_868+347del	XM_005263027.1:c.868+344_868+347del	XM_005263027.1:c.868+345_868+347del	XM_005263027.1:c.868+346_868+347del	XM_005263027.1:c.868+347del	XM_005263027.1:c.868+347dup	XM_005263027.1:c.868+346_868+347dup	XM_005263027.1:c.868+345_868+347dup	XM_005263027.1:c.868+344_868+347dup	XM_005263027.1:c.868+343_868+347dup	XM_005263027.1:c.868+341_868+347dup	XM_005263027.1:c.868+340_868+347dup	XM_005263027.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005263027.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X2	XM_005263028.1:c.868+347=	XM_005263028.1:c.868+334_868+347del	XM_005263028.1:c.868+335_868+347del	XM_005263028.1:c.868+336_868+347del	XM_005263028.1:c.868+338_868+347del	XM_005263028.1:c.868+339_868+347del	XM_005263028.1:c.868+343_868+347del	XM_005263028.1:c.868+344_868+347del	XM_005263028.1:c.868+345_868+347del	XM_005263028.1:c.868+346_868+347del	XM_005263028.1:c.868+347del	XM_005263028.1:c.868+347dup	XM_005263028.1:c.868+346_868+347dup	XM_005263028.1:c.868+345_868+347dup	XM_005263028.1:c.868+344_868+347dup	XM_005263028.1:c.868+343_868+347dup	XM_005263028.1:c.868+341_868+347dup	XM_005263028.1:c.868+340_868+347dup	XM_005263028.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005263028.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X3	XM_011532004.2:c.868+347=	XM_011532004.2:c.868+334_868+347del	XM_011532004.2:c.868+335_868+347del	XM_011532004.2:c.868+336_868+347del	XM_011532004.2:c.868+338_868+347del	XM_011532004.2:c.868+339_868+347del	XM_011532004.2:c.868+343_868+347del	XM_011532004.2:c.868+344_868+347del	XM_011532004.2:c.868+345_868+347del	XM_011532004.2:c.868+346_868+347del	XM_011532004.2:c.868+347del	XM_011532004.2:c.868+347dup	XM_011532004.2:c.868+346_868+347dup	XM_011532004.2:c.868+345_868+347dup	XM_011532004.2:c.868+344_868+347dup	XM_011532004.2:c.868+343_868+347dup	XM_011532004.2:c.868+341_868+347dup	XM_011532004.2:c.868+340_868+347dup	XM_011532004.2:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532004.2:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X12	XM_011532005.3:c.868+347=	XM_011532005.3:c.868+334_868+347del	XM_011532005.3:c.868+335_868+347del	XM_011532005.3:c.868+336_868+347del	XM_011532005.3:c.868+338_868+347del	XM_011532005.3:c.868+339_868+347del	XM_011532005.3:c.868+343_868+347del	XM_011532005.3:c.868+344_868+347del	XM_011532005.3:c.868+345_868+347del	XM_011532005.3:c.868+346_868+347del	XM_011532005.3:c.868+347del	XM_011532005.3:c.868+347dup	XM_011532005.3:c.868+346_868+347dup	XM_011532005.3:c.868+345_868+347dup	XM_011532005.3:c.868+344_868+347dup	XM_011532005.3:c.868+343_868+347dup	XM_011532005.3:c.868+341_868+347dup	XM_011532005.3:c.868+340_868+347dup	XM_011532005.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_011532005.3:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X1	XM_047415731.1:c.868+347=	XM_047415731.1:c.868+334_868+347del	XM_047415731.1:c.868+335_868+347del	XM_047415731.1:c.868+336_868+347del	XM_047415731.1:c.868+338_868+347del	XM_047415731.1:c.868+339_868+347del	XM_047415731.1:c.868+343_868+347del	XM_047415731.1:c.868+344_868+347del	XM_047415731.1:c.868+345_868+347del	XM_047415731.1:c.868+346_868+347del	XM_047415731.1:c.868+347del	XM_047415731.1:c.868+347dup	XM_047415731.1:c.868+346_868+347dup	XM_047415731.1:c.868+345_868+347dup	XM_047415731.1:c.868+344_868+347dup	XM_047415731.1:c.868+343_868+347dup	XM_047415731.1:c.868+341_868+347dup	XM_047415731.1:c.868+340_868+347dup	XM_047415731.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415731.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X2	XM_047415732.1:c.868+347=	XM_047415732.1:c.868+334_868+347del	XM_047415732.1:c.868+335_868+347del	XM_047415732.1:c.868+336_868+347del	XM_047415732.1:c.868+338_868+347del	XM_047415732.1:c.868+339_868+347del	XM_047415732.1:c.868+343_868+347del	XM_047415732.1:c.868+344_868+347del	XM_047415732.1:c.868+345_868+347del	XM_047415732.1:c.868+346_868+347del	XM_047415732.1:c.868+347del	XM_047415732.1:c.868+347dup	XM_047415732.1:c.868+346_868+347dup	XM_047415732.1:c.868+345_868+347dup	XM_047415732.1:c.868+344_868+347dup	XM_047415732.1:c.868+343_868+347dup	XM_047415732.1:c.868+341_868+347dup	XM_047415732.1:c.868+340_868+347dup	XM_047415732.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415732.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X4	XM_047415733.1:c.868+347=	XM_047415733.1:c.868+334_868+347del	XM_047415733.1:c.868+335_868+347del	XM_047415733.1:c.868+336_868+347del	XM_047415733.1:c.868+338_868+347del	XM_047415733.1:c.868+339_868+347del	XM_047415733.1:c.868+343_868+347del	XM_047415733.1:c.868+344_868+347del	XM_047415733.1:c.868+345_868+347del	XM_047415733.1:c.868+346_868+347del	XM_047415733.1:c.868+347del	XM_047415733.1:c.868+347dup	XM_047415733.1:c.868+346_868+347dup	XM_047415733.1:c.868+345_868+347dup	XM_047415733.1:c.868+344_868+347dup	XM_047415733.1:c.868+343_868+347dup	XM_047415733.1:c.868+341_868+347dup	XM_047415733.1:c.868+340_868+347dup	XM_047415733.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415733.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X5	XM_047415734.1:c.868+347=	XM_047415734.1:c.868+334_868+347del	XM_047415734.1:c.868+335_868+347del	XM_047415734.1:c.868+336_868+347del	XM_047415734.1:c.868+338_868+347del	XM_047415734.1:c.868+339_868+347del	XM_047415734.1:c.868+343_868+347del	XM_047415734.1:c.868+344_868+347del	XM_047415734.1:c.868+345_868+347del	XM_047415734.1:c.868+346_868+347del	XM_047415734.1:c.868+347del	XM_047415734.1:c.868+347dup	XM_047415734.1:c.868+346_868+347dup	XM_047415734.1:c.868+345_868+347dup	XM_047415734.1:c.868+344_868+347dup	XM_047415734.1:c.868+343_868+347dup	XM_047415734.1:c.868+341_868+347dup	XM_047415734.1:c.868+340_868+347dup	XM_047415734.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415734.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X6	XM_047415735.1:c.868+347=	XM_047415735.1:c.868+334_868+347del	XM_047415735.1:c.868+335_868+347del	XM_047415735.1:c.868+336_868+347del	XM_047415735.1:c.868+338_868+347del	XM_047415735.1:c.868+339_868+347del	XM_047415735.1:c.868+343_868+347del	XM_047415735.1:c.868+344_868+347del	XM_047415735.1:c.868+345_868+347del	XM_047415735.1:c.868+346_868+347del	XM_047415735.1:c.868+347del	XM_047415735.1:c.868+347dup	XM_047415735.1:c.868+346_868+347dup	XM_047415735.1:c.868+345_868+347dup	XM_047415735.1:c.868+344_868+347dup	XM_047415735.1:c.868+343_868+347dup	XM_047415735.1:c.868+341_868+347dup	XM_047415735.1:c.868+340_868+347dup	XM_047415735.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415735.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X7	XM_047415736.1:c.868+347=	XM_047415736.1:c.868+334_868+347del	XM_047415736.1:c.868+335_868+347del	XM_047415736.1:c.868+336_868+347del	XM_047415736.1:c.868+338_868+347del	XM_047415736.1:c.868+339_868+347del	XM_047415736.1:c.868+343_868+347del	XM_047415736.1:c.868+344_868+347del	XM_047415736.1:c.868+345_868+347del	XM_047415736.1:c.868+346_868+347del	XM_047415736.1:c.868+347del	XM_047415736.1:c.868+347dup	XM_047415736.1:c.868+346_868+347dup	XM_047415736.1:c.868+345_868+347dup	XM_047415736.1:c.868+344_868+347dup	XM_047415736.1:c.868+343_868+347dup	XM_047415736.1:c.868+341_868+347dup	XM_047415736.1:c.868+340_868+347dup	XM_047415736.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415736.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X8	XM_047415737.1:c.247+347=	XM_047415737.1:c.247+334_247+347del	XM_047415737.1:c.247+335_247+347del	XM_047415737.1:c.247+336_247+347del	XM_047415737.1:c.247+338_247+347del	XM_047415737.1:c.247+339_247+347del	XM_047415737.1:c.247+343_247+347del	XM_047415737.1:c.247+344_247+347del	XM_047415737.1:c.247+345_247+347del	XM_047415737.1:c.247+346_247+347del	XM_047415737.1:c.247+347del	XM_047415737.1:c.247+347dup	XM_047415737.1:c.247+346_247+347dup	XM_047415737.1:c.247+345_247+347dup	XM_047415737.1:c.247+344_247+347dup	XM_047415737.1:c.247+343_247+347dup	XM_047415737.1:c.247+341_247+347dup	XM_047415737.1:c.247+340_247+347dup	XM_047415737.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415737.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X9	XM_047415738.1:c.247+347=	XM_047415738.1:c.247+334_247+347del	XM_047415738.1:c.247+335_247+347del	XM_047415738.1:c.247+336_247+347del	XM_047415738.1:c.247+338_247+347del	XM_047415738.1:c.247+339_247+347del	XM_047415738.1:c.247+343_247+347del	XM_047415738.1:c.247+344_247+347del	XM_047415738.1:c.247+345_247+347del	XM_047415738.1:c.247+346_247+347del	XM_047415738.1:c.247+347del	XM_047415738.1:c.247+347dup	XM_047415738.1:c.247+346_247+347dup	XM_047415738.1:c.247+345_247+347dup	XM_047415738.1:c.247+344_247+347dup	XM_047415738.1:c.247+343_247+347dup	XM_047415738.1:c.247+341_247+347dup	XM_047415738.1:c.247+340_247+347dup	XM_047415738.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415738.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X10	XM_047415739.1:c.247+347=	XM_047415739.1:c.247+334_247+347del	XM_047415739.1:c.247+335_247+347del	XM_047415739.1:c.247+336_247+347del	XM_047415739.1:c.247+338_247+347del	XM_047415739.1:c.247+339_247+347del	XM_047415739.1:c.247+343_247+347del	XM_047415739.1:c.247+344_247+347del	XM_047415739.1:c.247+345_247+347del	XM_047415739.1:c.247+346_247+347del	XM_047415739.1:c.247+347del	XM_047415739.1:c.247+347dup	XM_047415739.1:c.247+346_247+347dup	XM_047415739.1:c.247+345_247+347dup	XM_047415739.1:c.247+344_247+347dup	XM_047415739.1:c.247+343_247+347dup	XM_047415739.1:c.247+341_247+347dup	XM_047415739.1:c.247+340_247+347dup	XM_047415739.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415739.1:c.247+347_247+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X11	XM_047415740.1:c.868+347=	XM_047415740.1:c.868+334_868+347del	XM_047415740.1:c.868+335_868+347del	XM_047415740.1:c.868+336_868+347del	XM_047415740.1:c.868+338_868+347del	XM_047415740.1:c.868+339_868+347del	XM_047415740.1:c.868+343_868+347del	XM_047415740.1:c.868+344_868+347del	XM_047415740.1:c.868+345_868+347del	XM_047415740.1:c.868+346_868+347del	XM_047415740.1:c.868+347del	XM_047415740.1:c.868+347dup	XM_047415740.1:c.868+346_868+347dup	XM_047415740.1:c.868+345_868+347dup	XM_047415740.1:c.868+344_868+347dup	XM_047415740.1:c.868+343_868+347dup	XM_047415740.1:c.868+341_868+347dup	XM_047415740.1:c.868+340_868+347dup	XM_047415740.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415740.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NEK1 transcript variant X13	XM_047415741.1:c.868+347=	XM_047415741.1:c.868+334_868+347del	XM_047415741.1:c.868+335_868+347del	XM_047415741.1:c.868+336_868+347del	XM_047415741.1:c.868+338_868+347del	XM_047415741.1:c.868+339_868+347del	XM_047415741.1:c.868+343_868+347del	XM_047415741.1:c.868+344_868+347del	XM_047415741.1:c.868+345_868+347del	XM_047415741.1:c.868+346_868+347del	XM_047415741.1:c.868+347del	XM_047415741.1:c.868+347dup	XM_047415741.1:c.868+346_868+347dup	XM_047415741.1:c.868+345_868+347dup	XM_047415741.1:c.868+344_868+347dup	XM_047415741.1:c.868+343_868+347dup	XM_047415741.1:c.868+341_868+347dup	XM_047415741.1:c.868+340_868+347dup	XM_047415741.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047415741.1:c.868+347_868+348insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

51 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79718092	Dec 15, 2007 (129)
2	HGSV	ss80302366	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95377828	Feb 06, 2009 (130)
4	PJP	ss295200491	May 09, 2011 (137)
5	PJP	ss295200492	May 09, 2011 (134)
6	1000GENOMES	ss1373117007	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1576397990	Apr 01, 2015 (144)
8	SWEGEN	ss2996009541	Nov 08, 2017 (151)
9	EVA_DECODE	ss3713609961	Jul 13, 2019 (153)
10	EVA_DECODE	ss3713609962	Jul 13, 2019 (153)
11	EVA_DECODE	ss3713609963	Jul 13, 2019 (153)
12	ACPOP	ss3731855148	Jul 13, 2019 (153)
13	ACPOP	ss3731855149	Jul 13, 2019 (153)
14	PACBIO	ss3784942393	Jul 13, 2019 (153)
15	PACBIO	ss3790367249	Jul 13, 2019 (153)
16	PACBIO	ss3790367250	Jul 13, 2019 (153)
17	PACBIO	ss3795242936	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3805916867	Jul 13, 2019 (153)
19	EVA	ss3828954303	Apr 26, 2020 (154)
20	GNOMAD	ss4125291818	Apr 26, 2021 (155)
21	GNOMAD	ss4125291819	Apr 26, 2021 (155)
22	GNOMAD	ss4125291820	Apr 26, 2021 (155)
23	GNOMAD	ss4125291821	Apr 26, 2021 (155)
24	GNOMAD	ss4125291822	Apr 26, 2021 (155)
25	GNOMAD	ss4125291823	Apr 26, 2021 (155)
26	GNOMAD	ss4125291824	Apr 26, 2021 (155)
27	GNOMAD	ss4125291825	Apr 26, 2021 (155)
28	GNOMAD	ss4125291826	Apr 26, 2021 (155)
29	GNOMAD	ss4125291827	Apr 26, 2021 (155)
30	GNOMAD	ss4125291828	Apr 26, 2021 (155)
31	GNOMAD	ss4125291829	Apr 26, 2021 (155)
32	GNOMAD	ss4125291830	Apr 26, 2021 (155)
33	GNOMAD	ss4125291831	Apr 26, 2021 (155)
34	GNOMAD	ss4125291832	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5169269337	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5169269338	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5169269339	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5262004223	Oct 17, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5262004224	Oct 17, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5262004225	Oct 17, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5262004226	Oct 17, 2022 (156)
42	HUGCELL_USP	ss5460453393	Oct 17, 2022 (156)
43	HUGCELL_USP	ss5460453394	Oct 17, 2022 (156)
44	HUGCELL_USP	ss5460453395	Oct 17, 2022 (156)
45	HUGCELL_USP	ss5460453396	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5704609502	Oct 17, 2022 (156)
47	TOMMO_GENOMICS	ss5704609503	Oct 17, 2022 (156)
48	TOMMO_GENOMICS	ss5704609504	Oct 17, 2022 (156)
49	EVA	ss5845102069	Oct 17, 2022 (156)
50	EVA	ss5845102070	Oct 17, 2022 (156)
51	EVA	ss5845102071	Oct 17, 2022 (156)
52	1000Genomes	NC_000004.11 - 170501646	Oct 12, 2018 (152)
53	The Danish reference pan genome	NC_000004.11 - 170501646	Apr 26, 2020 (154)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 173135226 (NC_000004.12:169580494::A 645/59830) Row 173135227 (NC_000004.12:169580494::AA 67/59954) Row 173135228 (NC_000004.12:169580494::AAA 17/59956)...	-	Apr 26, 2021 (155)
69	Northern Sweden Submission ignored due to conflicting rows: Row 5140013 (NC_000004.11:170501645:A: 241/540) Row 5140014 (NC_000004.11:170501645:AA: 30/540)	-	Jul 13, 2019 (153)
70	Northern Sweden Submission ignored due to conflicting rows: Row 5140013 (NC_000004.11:170501645:A: 241/540) Row 5140014 (NC_000004.11:170501645:AA: 30/540)	-	Jul 13, 2019 (153)
71	8.3KJPN Submission ignored due to conflicting rows: Row 27238644 (NC_000004.11:170501645:A: 12019/16632) Row 27238645 (NC_000004.11:170501645:AA: 359/16632) Row 27238646 (NC_000004.11:170501645:AAA: 6/16632)	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 27238644 (NC_000004.11:170501645:A: 12019/16632) Row 27238645 (NC_000004.11:170501645:AA: 359/16632) Row 27238646 (NC_000004.11:170501645:AAA: 6/16632)	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 27238644 (NC_000004.11:170501645:A: 12019/16632) Row 27238645 (NC_000004.11:170501645:AA: 359/16632) Row 27238646 (NC_000004.11:170501645:AAA: 6/16632)	-	Apr 26, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 38446606 (NC_000004.12:169580494:A: 23608/28136) Row 38446607 (NC_000004.12:169580494:AA: 689/28136) Row 38446608 (NC_000004.12:169580494:AAA: 12/28136)	-	Oct 17, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 38446606 (NC_000004.12:169580494:A: 23608/28136) Row 38446607 (NC_000004.12:169580494:AA: 689/28136) Row 38446608 (NC_000004.12:169580494:AAA: 12/28136)	-	Oct 17, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 38446606 (NC_000004.12:169580494:A: 23608/28136) Row 38446607 (NC_000004.12:169580494:AA: 689/28136) Row 38446608 (NC_000004.12:169580494:AAA: 12/28136)	-	Oct 17, 2022 (156)
77	ALFA	NC_000004.12 - 169580495	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs34311752	May 11, 2012 (137)
rs35411785	May 23, 2006 (127)
rs143394456	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4125291832	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4125291831	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4125291830	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4125291829	NC_000004.12:169580494:AAAAAAAAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4125291828, ss5262004226	NC_000004.12:169580494:AAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5169269339, ss5845102071	NC_000004.11:170501645:AAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3713609963, ss4125291827, ss5704609504	NC_000004.12:169580494:AAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss79718092	NC_000004.9:170876395:AA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss2996009541, ss3731855149, ss3784942393, ss3790367249, ss5169269338, ss5845102069	NC_000004.11:170501645:AA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5262004224, ss5460453393, ss5704609503	NC_000004.12:169580494:AA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3713609962	NC_000004.12:169580495:AA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss80302366	NC_000004.9:170876396:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss295200491	NC_000004.10:170738220:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss295200492	NC_000004.10:170738241:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
24450433, 961875, ss1373117007, ss1576397990, ss3731855148, ss3790367250, ss3795242936, ss3828954303, ss5169269337, ss5845102070	NC_000004.11:170501645:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3805916867, ss5460453394, ss5704609502	NC_000004.12:169580494:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3713609961	NC_000004.12:169580496:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss95377828	NT_016354.19:95049387:A:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291818, ss5262004225, ss5460453396	NC_000004.12:169580494::A	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291819, ss5262004223, ss5460453395	NC_000004.12:169580494::AA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291820	NC_000004.12:169580494::AAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291821	NC_000004.12:169580494::AAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291822	NC_000004.12:169580494::AAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
488166804	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291823	NC_000004.12:169580494::AAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291824	NC_000004.12:169580494::AAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291825	NC_000004.12:169580494::AAAAAAAAAA… NC_000004.12:169580494::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4125291826	NC_000004.12:169580494::AAAAAAAAAA… NC_000004.12:169580494::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3450099120	NC_000004.12:169580494:AAAAA:	NC_000004.12:169580494:AAAAAAAAAAA… NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

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

No publications for rs11348370

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

rs11348370