Name: rs60150925
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.

rs60150925

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:27030548-27030565 (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)₉ / del(A)₇ / del(A)₆ / del(…
del(A)₉ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.3229 (1617/5008, 1000G)
del(A)₉=0.000 (0/122, ALFA)
del(A)₇=0.000 (0/122, ALFA) (+ 8 more)
del(A)₆=0.000 (0/122, ALFA)
del(A)₅=0.000 (0/122, ALFA)
delAAA=0.000 (0/122, ALFA)
delAA=0.000 (0/122, ALFA)
delA=0.000 (0/122, ALFA)
dupA=0.000 (0/122, ALFA)
dupAA=0.000 (0/122, ALFA)
dupAAA=0.000 (0/122, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IFT74 : 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	122	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	34	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	86	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	84	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.3229
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.2723
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.2778
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.4115
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.399
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.249
Allele Frequency Aggregator	Total	Global	122	(A)₁₈=1.000	del(A)₉=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	86	(A)₁₈=1.00	del(A)₉=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	European	Sub	34	(A)₁₈=1.00	del(A)₉=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	2	(A)₁₈=1.0	del(A)₉=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₈=0	del(A)₉=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₈=0	del(A)₉=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₈=0	del(A)₉=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₈=0	del(A)₉=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 9	NC_000009.12:g.27030557_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030559_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030560_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030561_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030562_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030563_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030564_27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030565del
GRCh38.p14 chr 9	NC_000009.12:g.27030565dup
GRCh38.p14 chr 9	NC_000009.12:g.27030564_27030565dup
GRCh38.p14 chr 9	NC_000009.12:g.27030563_27030565dup
GRCh38.p14 chr 9	NC_000009.12:g.27030562_27030565dup
GRCh38.p14 chr 9	NC_000009.12:g.27030559_27030565dup
GRCh37.p13 chr 9	NC_000009.11:g.27030555_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030557_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030558_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030559_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030560_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030561_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030562_27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030563del
GRCh37.p13 chr 9	NC_000009.11:g.27030563dup
GRCh37.p13 chr 9	NC_000009.11:g.27030562_27030563dup
GRCh37.p13 chr 9	NC_000009.11:g.27030561_27030563dup
GRCh37.p13 chr 9	NC_000009.11:g.27030560_27030563dup
GRCh37.p13 chr 9	NC_000009.11:g.27030557_27030563dup
IFT74 RefSeqGene	NG_053083.1:g.88568_88576del
IFT74 RefSeqGene	NG_053083.1:g.88570_88576del
IFT74 RefSeqGene	NG_053083.1:g.88571_88576del
IFT74 RefSeqGene	NG_053083.1:g.88572_88576del
IFT74 RefSeqGene	NG_053083.1:g.88573_88576del
IFT74 RefSeqGene	NG_053083.1:g.88574_88576del
IFT74 RefSeqGene	NG_053083.1:g.88575_88576del
IFT74 RefSeqGene	NG_053083.1:g.88576del
IFT74 RefSeqGene	NG_053083.1:g.88576dup
IFT74 RefSeqGene	NG_053083.1:g.88575_88576dup
IFT74 RefSeqGene	NG_053083.1:g.88574_88576dup
IFT74 RefSeqGene	NG_053083.1:g.88573_88576dup
IFT74 RefSeqGene	NG_053083.1:g.88570_88576dup

Gene: IFT74, intraflagellar transport 74 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IFT74 transcript variant 2	NM_001099222.3:c.1054+145… NM_001099222.3:c.1054+1453_1054+1461del	N/A	Intron Variant
IFT74 transcript variant 3	NM_001099223.3:c.1054+145… NM_001099223.3:c.1054+1453_1054+1461del	N/A	Intron Variant
IFT74 transcript variant 4	NM_001099224.3:c.1054+145… NM_001099224.3:c.1054+1453_1054+1461del	N/A	Intron Variant
IFT74 transcript variant 5	NM_001349928.2:c.1054+145… NM_001349928.2:c.1054+1453_1054+1461del	N/A	Intron Variant
IFT74 transcript variant 1	NM_025103.4:c.1054+1453_1… NM_025103.4:c.1054+1453_1054+1461del	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)₁₈=	del(A)₉	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₇
GRCh38.p14 chr 9	NC_000009.12:g.27030548_27030565=	NC_000009.12:g.27030557_27030565del	NC_000009.12:g.27030559_27030565del	NC_000009.12:g.27030560_27030565del	NC_000009.12:g.27030561_27030565del	NC_000009.12:g.27030562_27030565del	NC_000009.12:g.27030563_27030565del	NC_000009.12:g.27030564_27030565del	NC_000009.12:g.27030565del	NC_000009.12:g.27030565dup	NC_000009.12:g.27030564_27030565dup	NC_000009.12:g.27030563_27030565dup	NC_000009.12:g.27030562_27030565dup	NC_000009.12:g.27030559_27030565dup
GRCh37.p13 chr 9	NC_000009.11:g.27030546_27030563=	NC_000009.11:g.27030555_27030563del	NC_000009.11:g.27030557_27030563del	NC_000009.11:g.27030558_27030563del	NC_000009.11:g.27030559_27030563del	NC_000009.11:g.27030560_27030563del	NC_000009.11:g.27030561_27030563del	NC_000009.11:g.27030562_27030563del	NC_000009.11:g.27030563del	NC_000009.11:g.27030563dup	NC_000009.11:g.27030562_27030563dup	NC_000009.11:g.27030561_27030563dup	NC_000009.11:g.27030560_27030563dup	NC_000009.11:g.27030557_27030563dup
IFT74 RefSeqGene	NG_053083.1:g.88559_88576=	NG_053083.1:g.88568_88576del	NG_053083.1:g.88570_88576del	NG_053083.1:g.88571_88576del	NG_053083.1:g.88572_88576del	NG_053083.1:g.88573_88576del	NG_053083.1:g.88574_88576del	NG_053083.1:g.88575_88576del	NG_053083.1:g.88576del	NG_053083.1:g.88576dup	NG_053083.1:g.88575_88576dup	NG_053083.1:g.88574_88576dup	NG_053083.1:g.88573_88576dup	NG_053083.1:g.88570_88576dup
IFT74 transcript variant 2	NM_001099222.1:c.1054+1444=	NM_001099222.1:c.1054+1453_1054+1461del	NM_001099222.1:c.1054+1455_1054+1461del	NM_001099222.1:c.1054+1456_1054+1461del	NM_001099222.1:c.1054+1457_1054+1461del	NM_001099222.1:c.1054+1458_1054+1461del	NM_001099222.1:c.1054+1459_1054+1461del	NM_001099222.1:c.1054+1460_1054+1461del	NM_001099222.1:c.1054+1461del	NM_001099222.1:c.1054+1461dup	NM_001099222.1:c.1054+1460_1054+1461dup	NM_001099222.1:c.1054+1459_1054+1461dup	NM_001099222.1:c.1054+1458_1054+1461dup	NM_001099222.1:c.1054+1455_1054+1461dup
IFT74 transcript variant 2	NM_001099222.3:c.1054+1444=	NM_001099222.3:c.1054+1453_1054+1461del	NM_001099222.3:c.1054+1455_1054+1461del	NM_001099222.3:c.1054+1456_1054+1461del	NM_001099222.3:c.1054+1457_1054+1461del	NM_001099222.3:c.1054+1458_1054+1461del	NM_001099222.3:c.1054+1459_1054+1461del	NM_001099222.3:c.1054+1460_1054+1461del	NM_001099222.3:c.1054+1461del	NM_001099222.3:c.1054+1461dup	NM_001099222.3:c.1054+1460_1054+1461dup	NM_001099222.3:c.1054+1459_1054+1461dup	NM_001099222.3:c.1054+1458_1054+1461dup	NM_001099222.3:c.1054+1455_1054+1461dup
IFT74 transcript variant 3	NM_001099223.1:c.1054+1444=	NM_001099223.1:c.1054+1453_1054+1461del	NM_001099223.1:c.1054+1455_1054+1461del	NM_001099223.1:c.1054+1456_1054+1461del	NM_001099223.1:c.1054+1457_1054+1461del	NM_001099223.1:c.1054+1458_1054+1461del	NM_001099223.1:c.1054+1459_1054+1461del	NM_001099223.1:c.1054+1460_1054+1461del	NM_001099223.1:c.1054+1461del	NM_001099223.1:c.1054+1461dup	NM_001099223.1:c.1054+1460_1054+1461dup	NM_001099223.1:c.1054+1459_1054+1461dup	NM_001099223.1:c.1054+1458_1054+1461dup	NM_001099223.1:c.1054+1455_1054+1461dup
IFT74 transcript variant 3	NM_001099223.3:c.1054+1444=	NM_001099223.3:c.1054+1453_1054+1461del	NM_001099223.3:c.1054+1455_1054+1461del	NM_001099223.3:c.1054+1456_1054+1461del	NM_001099223.3:c.1054+1457_1054+1461del	NM_001099223.3:c.1054+1458_1054+1461del	NM_001099223.3:c.1054+1459_1054+1461del	NM_001099223.3:c.1054+1460_1054+1461del	NM_001099223.3:c.1054+1461del	NM_001099223.3:c.1054+1461dup	NM_001099223.3:c.1054+1460_1054+1461dup	NM_001099223.3:c.1054+1459_1054+1461dup	NM_001099223.3:c.1054+1458_1054+1461dup	NM_001099223.3:c.1054+1455_1054+1461dup
IFT74 transcript variant 4	NM_001099224.1:c.1054+1444=	NM_001099224.1:c.1054+1453_1054+1461del	NM_001099224.1:c.1054+1455_1054+1461del	NM_001099224.1:c.1054+1456_1054+1461del	NM_001099224.1:c.1054+1457_1054+1461del	NM_001099224.1:c.1054+1458_1054+1461del	NM_001099224.1:c.1054+1459_1054+1461del	NM_001099224.1:c.1054+1460_1054+1461del	NM_001099224.1:c.1054+1461del	NM_001099224.1:c.1054+1461dup	NM_001099224.1:c.1054+1460_1054+1461dup	NM_001099224.1:c.1054+1459_1054+1461dup	NM_001099224.1:c.1054+1458_1054+1461dup	NM_001099224.1:c.1054+1455_1054+1461dup
IFT74 transcript variant 4	NM_001099224.3:c.1054+1444=	NM_001099224.3:c.1054+1453_1054+1461del	NM_001099224.3:c.1054+1455_1054+1461del	NM_001099224.3:c.1054+1456_1054+1461del	NM_001099224.3:c.1054+1457_1054+1461del	NM_001099224.3:c.1054+1458_1054+1461del	NM_001099224.3:c.1054+1459_1054+1461del	NM_001099224.3:c.1054+1460_1054+1461del	NM_001099224.3:c.1054+1461del	NM_001099224.3:c.1054+1461dup	NM_001099224.3:c.1054+1460_1054+1461dup	NM_001099224.3:c.1054+1459_1054+1461dup	NM_001099224.3:c.1054+1458_1054+1461dup	NM_001099224.3:c.1054+1455_1054+1461dup
IFT74 transcript variant 5	NM_001349928.2:c.1054+1444=	NM_001349928.2:c.1054+1453_1054+1461del	NM_001349928.2:c.1054+1455_1054+1461del	NM_001349928.2:c.1054+1456_1054+1461del	NM_001349928.2:c.1054+1457_1054+1461del	NM_001349928.2:c.1054+1458_1054+1461del	NM_001349928.2:c.1054+1459_1054+1461del	NM_001349928.2:c.1054+1460_1054+1461del	NM_001349928.2:c.1054+1461del	NM_001349928.2:c.1054+1461dup	NM_001349928.2:c.1054+1460_1054+1461dup	NM_001349928.2:c.1054+1459_1054+1461dup	NM_001349928.2:c.1054+1458_1054+1461dup	NM_001349928.2:c.1054+1455_1054+1461dup
IFT74 transcript variant 1	NM_025103.2:c.1054+1444=	NM_025103.2:c.1054+1453_1054+1461del	NM_025103.2:c.1054+1455_1054+1461del	NM_025103.2:c.1054+1456_1054+1461del	NM_025103.2:c.1054+1457_1054+1461del	NM_025103.2:c.1054+1458_1054+1461del	NM_025103.2:c.1054+1459_1054+1461del	NM_025103.2:c.1054+1460_1054+1461del	NM_025103.2:c.1054+1461del	NM_025103.2:c.1054+1461dup	NM_025103.2:c.1054+1460_1054+1461dup	NM_025103.2:c.1054+1459_1054+1461dup	NM_025103.2:c.1054+1458_1054+1461dup	NM_025103.2:c.1054+1455_1054+1461dup
IFT74 transcript variant 1	NM_025103.4:c.1054+1444=	NM_025103.4:c.1054+1453_1054+1461del	NM_025103.4:c.1054+1455_1054+1461del	NM_025103.4:c.1054+1456_1054+1461del	NM_025103.4:c.1054+1457_1054+1461del	NM_025103.4:c.1054+1458_1054+1461del	NM_025103.4:c.1054+1459_1054+1461del	NM_025103.4:c.1054+1460_1054+1461del	NM_025103.4:c.1054+1461del	NM_025103.4:c.1054+1461dup	NM_025103.4:c.1054+1460_1054+1461dup	NM_025103.4:c.1054+1459_1054+1461dup	NM_025103.4:c.1054+1458_1054+1461dup	NM_025103.4:c.1054+1455_1054+1461dup

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#.

46 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82062948	Dec 15, 2007 (129)
2	HGSV	ss82153276	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95513533	Feb 05, 2009 (130)
4	PJP	ss295415342	Oct 12, 2018 (152)
5	BILGI_BIOE	ss666464547	Apr 25, 2013 (138)
6	1000GENOMES	ss1368202944	Aug 21, 2014 (142)
7	SWEGEN	ss3004602198	Nov 08, 2017 (151)
8	EVA_DECODE	ss3723739700	Jul 13, 2019 (153)
9	EVA_DECODE	ss3723739701	Jul 13, 2019 (153)
10	EVA_DECODE	ss3723739702	Jul 13, 2019 (153)
11	EVA_DECODE	ss3723739703	Jul 13, 2019 (153)
12	PACBIO	ss3786383198	Jul 13, 2019 (153)
13	PACBIO	ss3791604470	Jul 13, 2019 (153)
14	PACBIO	ss3796486144	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3812244112	Jul 13, 2019 (153)
16	GNOMAD	ss4199957727	Apr 26, 2021 (155)
17	GNOMAD	ss4199957728	Apr 26, 2021 (155)
18	GNOMAD	ss4199957729	Apr 26, 2021 (155)
19	GNOMAD	ss4199957730	Apr 26, 2021 (155)
20	GNOMAD	ss4199957731	Apr 26, 2021 (155)
21	GNOMAD	ss4199957733	Apr 26, 2021 (155)
22	GNOMAD	ss4199957734	Apr 26, 2021 (155)
23	GNOMAD	ss4199957735	Apr 26, 2021 (155)
24	GNOMAD	ss4199957736	Apr 26, 2021 (155)
25	GNOMAD	ss4199957737	Apr 26, 2021 (155)
26	GNOMAD	ss4199957738	Apr 26, 2021 (155)
27	GNOMAD	ss4199957739	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5192701470	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5192701471	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5192701472	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5192701473	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5280278897	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5280278898	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5280278899	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5280278900	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5476506937	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5476506938	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5476506939	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5735923949	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5735923950	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5735923951	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5735923952	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5735923954	Oct 16, 2022 (156)
44	EVA	ss5829035279	Oct 16, 2022 (156)
45	EVA	ss5829035280	Oct 16, 2022 (156)
46	EVA	ss5829035281	Oct 16, 2022 (156)
47	1000Genomes	NC_000009.11 - 27030546	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 322186255 (NC_000009.12:27030547::A 79951/106320) Row 322186256 (NC_000009.12:27030547::AA 14132/105580) Row 322186257 (NC_000009.12:27030547::AAA 226/106208)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 50670777 (NC_000009.11:27030545::AA 10792/15974) Row 50670778 (NC_000009.11:27030545::A 3895/15974) Row 50670779 (NC_000009.11:27030545::AAA 68/15974)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 50670777 (NC_000009.11:27030545::AA 10792/15974) Row 50670778 (NC_000009.11:27030545::A 3895/15974) Row 50670779 (NC_000009.11:27030545::AAA 68/15974)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 50670777 (NC_000009.11:27030545::AA 10792/15974) Row 50670778 (NC_000009.11:27030545::A 3895/15974) Row 50670779 (NC_000009.11:27030545::AAA 68/15974)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 50670777 (NC_000009.11:27030545::AA 10792/15974) Row 50670778 (NC_000009.11:27030545::A 3895/15974) Row 50670779 (NC_000009.11:27030545::AAA 68/15974)...	-	Apr 26, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 69761053 (NC_000009.12:27030547::AA 19459/27986) Row 69761054 (NC_000009.12:27030547::A 6919/27986) Row 69761055 (NC_000009.12:27030547::AAA 94/27986)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 69761053 (NC_000009.12:27030547::AA 19459/27986) Row 69761054 (NC_000009.12:27030547::A 6919/27986) Row 69761055 (NC_000009.12:27030547::AAA 94/27986)...	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 69761053 (NC_000009.12:27030547::AA 19459/27986) Row 69761054 (NC_000009.12:27030547::A 6919/27986) Row 69761055 (NC_000009.12:27030547::AAA 94/27986)...	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 69761053 (NC_000009.12:27030547::AA 19459/27986) Row 69761054 (NC_000009.12:27030547::A 6919/27986) Row 69761055 (NC_000009.12:27030547::AAA 94/27986)...	-	Oct 16, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 69761053 (NC_000009.12:27030547::AA 19459/27986) Row 69761054 (NC_000009.12:27030547::A 6919/27986) Row 69761055 (NC_000009.12:27030547::AAA 94/27986)...	-	Oct 16, 2022 (156)
69	ALFA	NC_000009.12 - 27030548	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4199957739	NC_000009.12:27030547:AAAAAAAAA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4199957738	NC_000009.12:27030547:AAAAAA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4199957737	NC_000009.12:27030547:AAAAA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4199957736	NC_000009.12:27030547:AAAA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3723739703, ss4199957735	NC_000009.12:27030547:AAA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4199957734, ss5735923954	NC_000009.12:27030547:AA:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3004602198, ss5192701473	NC_000009.11:27030545:A:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4199957733, ss5280278899, ss5476506939, ss5735923952	NC_000009.12:27030547:A:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3723739702	NC_000009.12:27030549:A:	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295415342	NC_000009.10:27020546::A	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
45713283, ss666464547, ss1368202944, ss3786383198, ss3791604470, ss3796486144, ss5192701471, ss5829035279	NC_000009.11:27030545::A	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3812244112, ss4199957727, ss5280278897, ss5476506937, ss5735923950	NC_000009.12:27030547::A	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3723739701	NC_000009.12:27030550::A	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss95513533	NT_008413.18:27020563::A	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5192701470, ss5829035280	NC_000009.11:27030545::AA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4199957728, ss5280278898, ss5476506938, ss5735923949	NC_000009.12:27030547::AA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3723739700	NC_000009.12:27030550::AA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss82062948, ss82153276	NT_008413.18:27020563::AA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5192701472, ss5829035281	NC_000009.11:27030545::AAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4199957729, ss5280278900, ss5735923951	NC_000009.12:27030547::AAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6522245395	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4199957730	NC_000009.12:27030547::AAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4199957731	NC_000009.12:27030547::AAAAAAA	NC_000009.12:27030547:AAAAAAAAAAAA… NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs60150925

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60150925