Name: rs35746041
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.

rs35746041

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:73672608-73672626 (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)₁₀ / del(A)₈ / del(A)₆ / del…
del(A)₁₀ / del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₉=0.3528 (1767/5008, 1000G)
del(A)₁₀=0.000 (0/758, ALFA)
del(A)₈=0.000 (0/758, ALFA) (+ 9 more)
del(A)₆=0.000 (0/758, ALFA)
del(A)₄=0.000 (0/758, ALFA)
delAAA=0.000 (0/758, ALFA)
delAA=0.000 (0/758, ALFA)
delA=0.000 (0/758, ALFA)
dupA=0.000 (0/758, ALFA)
dupAA=0.000 (0/758, ALFA)
dupAAA=0.000 (0/758, ALFA)
(A)₁₉=0.474 (184/388, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DNAL1 : 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	758	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	610	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	64	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	64	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	14	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	36	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	24	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₁₉=0.3528	delA=0.6472
1000Genomes	African	Sub	1322	(A)₁₉=0.3517	delA=0.6483
1000Genomes	East Asian	Sub	1008	(A)₁₉=0.2550	delA=0.7450
1000Genomes	Europe	Sub	1006	(A)₁₉=0.3757	delA=0.6243
1000Genomes	South Asian	Sub	978	(A)₁₉=0.454	delA=0.546
1000Genomes	American	Sub	694	(A)₁₉=0.321	delA=0.679
Allele Frequency Aggregator	Total	Global	758	(A)₁₉=1.000	del(A)₁₀=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	610	(A)₁₉=1.000	del(A)₁₀=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	64	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	36	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	24	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	14	(A)₁₉=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(A)₁₉=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₁₉=1.0	del(A)₁₀=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Northern Sweden	ACPOP	Study-wide	388	(A)₁₉=0.474	delA=0.526

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 14	NC_000014.9:g.73672617_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672619_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672621_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672622_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672623_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672624_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672625_73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672626del
GRCh38.p14 chr 14	NC_000014.9:g.73672626dup
GRCh38.p14 chr 14	NC_000014.9:g.73672625_73672626dup
GRCh38.p14 chr 14	NC_000014.9:g.73672624_73672626dup
GRCh38.p14 chr 14	NC_000014.9:g.73672623_73672626dup
GRCh37.p13 chr 14	NC_000014.8:g.74139320_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139322_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139324_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139325_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139326_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139327_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139328_74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139329del
GRCh37.p13 chr 14	NC_000014.8:g.74139329dup
GRCh37.p13 chr 14	NC_000014.8:g.74139328_74139329dup
GRCh37.p13 chr 14	NC_000014.8:g.74139327_74139329dup
GRCh37.p13 chr 14	NC_000014.8:g.74139326_74139329dup
DNAL1 RefSeqGene	NG_028083.2:g.32743_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32745_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32747_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32748_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32749_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32750_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32751_32752del
DNAL1 RefSeqGene	NG_028083.2:g.32752del
DNAL1 RefSeqGene	NG_028083.2:g.32752dup
DNAL1 RefSeqGene	NG_028083.2:g.32751_32752dup
DNAL1 RefSeqGene	NG_028083.2:g.32750_32752dup
DNAL1 RefSeqGene	NG_028083.2:g.32749_32752dup

Gene: DNAL1, dynein axonemal light chain 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAL1 transcript variant 2	NM_001201366.2:c.147+1020… NM_001201366.2:c.147+1020_147+1029del	N/A	Intron Variant
DNAL1 transcript variant 1	NM_031427.4:c.264+1020_26… NM_031427.4:c.264+1020_264+1029del	N/A	Intron Variant
DNAL1 transcript variant X2	XM_017021679.3:c.147+1020… XM_017021679.3:c.147+1020_147+1029del	N/A	Intron Variant
DNAL1 transcript variant X1	XM_024449715.2:c.147+1020… XM_024449715.2:c.147+1020_147+1029del	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)₁₉=	del(A)₁₀	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 14	NC_000014.9:g.73672608_73672626=	NC_000014.9:g.73672617_73672626del	NC_000014.9:g.73672619_73672626del	NC_000014.9:g.73672621_73672626del	NC_000014.9:g.73672622_73672626del	NC_000014.9:g.73672623_73672626del	NC_000014.9:g.73672624_73672626del	NC_000014.9:g.73672625_73672626del	NC_000014.9:g.73672626del	NC_000014.9:g.73672626dup	NC_000014.9:g.73672625_73672626dup	NC_000014.9:g.73672624_73672626dup	NC_000014.9:g.73672623_73672626dup
GRCh37.p13 chr 14	NC_000014.8:g.74139311_74139329=	NC_000014.8:g.74139320_74139329del	NC_000014.8:g.74139322_74139329del	NC_000014.8:g.74139324_74139329del	NC_000014.8:g.74139325_74139329del	NC_000014.8:g.74139326_74139329del	NC_000014.8:g.74139327_74139329del	NC_000014.8:g.74139328_74139329del	NC_000014.8:g.74139329del	NC_000014.8:g.74139329dup	NC_000014.8:g.74139328_74139329dup	NC_000014.8:g.74139327_74139329dup	NC_000014.8:g.74139326_74139329dup
DNAL1 RefSeqGene	NG_028083.2:g.32734_32752=	NG_028083.2:g.32743_32752del	NG_028083.2:g.32745_32752del	NG_028083.2:g.32747_32752del	NG_028083.2:g.32748_32752del	NG_028083.2:g.32749_32752del	NG_028083.2:g.32750_32752del	NG_028083.2:g.32751_32752del	NG_028083.2:g.32752del	NG_028083.2:g.32752dup	NG_028083.2:g.32751_32752dup	NG_028083.2:g.32750_32752dup	NG_028083.2:g.32749_32752dup
DNAL1 transcript variant 2	NM_001201366.1:c.147+1011=	NM_001201366.1:c.147+1020_147+1029del	NM_001201366.1:c.147+1022_147+1029del	NM_001201366.1:c.147+1024_147+1029del	NM_001201366.1:c.147+1025_147+1029del	NM_001201366.1:c.147+1026_147+1029del	NM_001201366.1:c.147+1027_147+1029del	NM_001201366.1:c.147+1028_147+1029del	NM_001201366.1:c.147+1029del	NM_001201366.1:c.147+1029dup	NM_001201366.1:c.147+1028_147+1029dup	NM_001201366.1:c.147+1027_147+1029dup	NM_001201366.1:c.147+1026_147+1029dup
DNAL1 transcript variant 2	NM_001201366.2:c.147+1011=	NM_001201366.2:c.147+1020_147+1029del	NM_001201366.2:c.147+1022_147+1029del	NM_001201366.2:c.147+1024_147+1029del	NM_001201366.2:c.147+1025_147+1029del	NM_001201366.2:c.147+1026_147+1029del	NM_001201366.2:c.147+1027_147+1029del	NM_001201366.2:c.147+1028_147+1029del	NM_001201366.2:c.147+1029del	NM_001201366.2:c.147+1029dup	NM_001201366.2:c.147+1028_147+1029dup	NM_001201366.2:c.147+1027_147+1029dup	NM_001201366.2:c.147+1026_147+1029dup
DNAL1 transcript variant 1	NM_031427.3:c.264+1011=	NM_031427.3:c.264+1020_264+1029del	NM_031427.3:c.264+1022_264+1029del	NM_031427.3:c.264+1024_264+1029del	NM_031427.3:c.264+1025_264+1029del	NM_031427.3:c.264+1026_264+1029del	NM_031427.3:c.264+1027_264+1029del	NM_031427.3:c.264+1028_264+1029del	NM_031427.3:c.264+1029del	NM_031427.3:c.264+1029dup	NM_031427.3:c.264+1028_264+1029dup	NM_031427.3:c.264+1027_264+1029dup	NM_031427.3:c.264+1026_264+1029dup
DNAL1 transcript variant 1	NM_031427.4:c.264+1011=	NM_031427.4:c.264+1020_264+1029del	NM_031427.4:c.264+1022_264+1029del	NM_031427.4:c.264+1024_264+1029del	NM_031427.4:c.264+1025_264+1029del	NM_031427.4:c.264+1026_264+1029del	NM_031427.4:c.264+1027_264+1029del	NM_031427.4:c.264+1028_264+1029del	NM_031427.4:c.264+1029del	NM_031427.4:c.264+1029dup	NM_031427.4:c.264+1028_264+1029dup	NM_031427.4:c.264+1027_264+1029dup	NM_031427.4:c.264+1026_264+1029dup
DNAL1 transcript variant X2	XM_017021679.3:c.147+1011=	XM_017021679.3:c.147+1020_147+1029del	XM_017021679.3:c.147+1022_147+1029del	XM_017021679.3:c.147+1024_147+1029del	XM_017021679.3:c.147+1025_147+1029del	XM_017021679.3:c.147+1026_147+1029del	XM_017021679.3:c.147+1027_147+1029del	XM_017021679.3:c.147+1028_147+1029del	XM_017021679.3:c.147+1029del	XM_017021679.3:c.147+1029dup	XM_017021679.3:c.147+1028_147+1029dup	XM_017021679.3:c.147+1027_147+1029dup	XM_017021679.3:c.147+1026_147+1029dup
DNAL1 transcript variant X1	XM_024449715.2:c.147+1011=	XM_024449715.2:c.147+1020_147+1029del	XM_024449715.2:c.147+1022_147+1029del	XM_024449715.2:c.147+1024_147+1029del	XM_024449715.2:c.147+1025_147+1029del	XM_024449715.2:c.147+1026_147+1029del	XM_024449715.2:c.147+1027_147+1029del	XM_024449715.2:c.147+1028_147+1029del	XM_024449715.2:c.147+1029del	XM_024449715.2:c.147+1029dup	XM_024449715.2:c.147+1028_147+1029dup	XM_024449715.2:c.147+1027_147+1029dup	XM_024449715.2:c.147+1026_147+1029dup

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#.

41 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40491658	Mar 15, 2006 (126)
2	HGSV	ss82687320	Dec 15, 2007 (137)
3	1000GENOMES	ss1374281741	Aug 21, 2014 (142)
4	MCHAISSO	ss3063799822	Nov 08, 2017 (151)
5	MCHAISSO	ss3064634686	Nov 08, 2017 (151)
6	MCHAISSO	ss3065563752	Nov 08, 2017 (151)
7	EVA_DECODE	ss3696982266	Jul 13, 2019 (153)
8	EVA_DECODE	ss3696982267	Jul 13, 2019 (153)
9	EVA_DECODE	ss3696982268	Jul 13, 2019 (153)
10	EVA_DECODE	ss3696982269	Jul 13, 2019 (153)
11	EVA_DECODE	ss3696982270	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696982271	Jul 13, 2019 (153)
13	ACPOP	ss3740517844	Jul 13, 2019 (153)
14	PACBIO	ss3787707935	Jul 13, 2019 (153)
15	PACBIO	ss3792739252	Jul 13, 2019 (153)
16	PACBIO	ss3797623614	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3817838394	Jul 13, 2019 (153)
18	EVA	ss3833998421	Apr 27, 2020 (154)
19	GNOMAD	ss4280696071	Apr 26, 2021 (155)
20	GNOMAD	ss4280696072	Apr 26, 2021 (155)
21	GNOMAD	ss4280696073	Apr 26, 2021 (155)
22	GNOMAD	ss4280696074	Apr 26, 2021 (155)
23	GNOMAD	ss4280696076	Apr 26, 2021 (155)
24	GNOMAD	ss4280696077	Apr 26, 2021 (155)
25	GNOMAD	ss4280696078	Apr 26, 2021 (155)
26	GNOMAD	ss4280696079	Apr 26, 2021 (155)
27	GNOMAD	ss4280696080	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5213924927	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5213924928	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5213924929	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5213924930	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5296759573	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5296759574	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5296759575	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5296759576	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5490751268	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5490751270	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5766929553	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5766929554	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5766929555	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5766929556	Oct 16, 2022 (156)
42	1000Genomes	NC_000014.8 - 74139311	Oct 12, 2018 (152)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455613946 (NC_000014.9:73672607::A 54/68350) Row 455613947 (NC_000014.9:73672607::AA 6/68354) Row 455613948 (NC_000014.9:73672607::AAA 2/68352)...	-	Apr 26, 2021 (155)
52	Northern Sweden	NC_000014.8 - 74139311	Jul 13, 2019 (153)
53	8.3KJPN Submission ignored due to conflicting rows: Row 71894234 (NC_000014.8:74139310:A: 13918/16324) Row 71894235 (NC_000014.8:74139310:AA: 17/16324) Row 71894236 (NC_000014.8:74139310:AAAAAA: 12/16324)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 71894234 (NC_000014.8:74139310:A: 13918/16324) Row 71894235 (NC_000014.8:74139310:AA: 17/16324) Row 71894236 (NC_000014.8:74139310:AAAAAA: 12/16324)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 71894234 (NC_000014.8:74139310:A: 13918/16324) Row 71894235 (NC_000014.8:74139310:AA: 17/16324) Row 71894236 (NC_000014.8:74139310:AAAAAA: 12/16324)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 71894234 (NC_000014.8:74139310:A: 13918/16324) Row 71894235 (NC_000014.8:74139310:AA: 17/16324) Row 71894236 (NC_000014.8:74139310:AAAAAA: 12/16324)...	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 100766657 (NC_000014.9:73672607:A: 24611/28014) Row 100766658 (NC_000014.9:73672607:AA: 23/28014) Row 100766659 (NC_000014.9:73672607:AAAAAA: 15/28014)...	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 100766657 (NC_000014.9:73672607:A: 24611/28014) Row 100766658 (NC_000014.9:73672607:AA: 23/28014) Row 100766659 (NC_000014.9:73672607:AAAAAA: 15/28014)...	-	Oct 16, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 100766657 (NC_000014.9:73672607:A: 24611/28014) Row 100766658 (NC_000014.9:73672607:AA: 23/28014) Row 100766659 (NC_000014.9:73672607:AAAAAA: 15/28014)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 100766657 (NC_000014.9:73672607:A: 24611/28014) Row 100766658 (NC_000014.9:73672607:AA: 23/28014) Row 100766659 (NC_000014.9:73672607:AAAAAA: 15/28014)...	-	Oct 16, 2022 (156)
61	ALFA	NC_000014.9 - 73672608	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)
rs60005528	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4280696080	NC_000014.9:73672607:AAAAAAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5213924929	NC_000014.8:74139310:AAAAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4280696079, ss5296759576, ss5766929555	NC_000014.9:73672607:AAAAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3696982271	NC_000014.9:73672607:AAAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4280696078	NC_000014.9:73672607:AAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3696982270	NC_000014.9:73672608:AAAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4280696077, ss5296759574	NC_000014.9:73672607:AAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3696982269	NC_000014.9:73672609:AAA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5213924928	NC_000014.8:74139310:AA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4280696076, ss5296759573, ss5490751270, ss5766929554	NC_000014.9:73672607:AA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3696982268	NC_000014.9:73672610:AA:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss82687320	NC_000014.7:73209081:A:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
64619201, 13802709, ss1374281741, ss3740517844, ss3787707935, ss3792739252, ss3797623614, ss3833998421, ss5213924927	NC_000014.8:74139310:A:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3063799822, ss3064634686, ss3065563752, ss3817838394, ss5490751268, ss5766929553	NC_000014.9:73672607:A:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3696982267	NC_000014.9:73672611:A:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss40491658	NT_026437.12:55139310:A:	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5213924930	NC_000014.8:74139310::A	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4280696071, ss5296759575, ss5766929556	NC_000014.9:73672607::A	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3696982266	NC_000014.9:73672612::A	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4280696072	NC_000014.9:73672607::AA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4280696073	NC_000014.9:73672607::AAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7272151687	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4280696074	NC_000014.9:73672607::AAAA	NC_000014.9:73672607:AAAAAAAAAAAAA… NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs35746041

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

rs35746041