Name: rs67193385
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.

rs67193385

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:39744811 (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: insCACAA / ins(CA)₃GA / insCAGTT(C…
insCACAA / ins(CA)₃GA / insCAGTT(C)₄ATA
Variation Type: Indel Insertion and Deletion
Frequency: insCACAA=0.00000 (0/11862, ALFA)
ins(CA)₃GA=0.00000 (0/11862, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FSIP1 : 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	HWEP
Total	Global	11862	A=1.00000	ACACAA=0.00000, ACACACAGA=0.00000	1.0	N/A
European	Sub	7618	A=1.0000	ACACAA=0.0000, ACACACAGA=0.0000	1.0	N/A
African	Sub	2816	A=1.0000	ACACAA=0.0000, ACACACAGA=0.0000	1.0	N/A
African Others	Sub	108	A=1.000	ACACAA=0.000, ACACACAGA=0.000	1.0	N/A
African American	Sub	2708	A=1.0000	ACACAA=0.0000, ACACACAGA=0.0000	1.0	N/A
Asian	Sub	108	A=1.000	ACACAA=0.000, ACACACAGA=0.000	1.0	N/A
East Asian	Sub	84	A=1.00	ACACAA=0.00, ACACACAGA=0.00	1.0	N/A
Other Asian	Sub	24	A=1.00	ACACAA=0.00, ACACACAGA=0.00	1.0	N/A
Latin American 1	Sub	146	A=1.000	ACACAA=0.000, ACACACAGA=0.000	1.0	N/A
Latin American 2	Sub	610	A=1.000	ACACAA=0.000, ACACACAGA=0.000	1.0	N/A
South Asian	Sub	94	A=1.00	ACACAA=0.00, ACACACAGA=0.00	1.0	N/A
Other	Sub	470	A=1.000	ACACAA=0.000, ACACACAGA=0.000	1.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	11862	A=1.00000	insCACAA=0.00000, ins(CA)₃GA=0.00000
Allele Frequency Aggregator	European	Sub	7618	A=1.0000	insCACAA=0.0000, ins(CA)₃GA=0.0000
Allele Frequency Aggregator	African	Sub	2816	A=1.0000	insCACAA=0.0000, ins(CA)₃GA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	A=1.000	insCACAA=0.000, ins(CA)₃GA=0.000
Allele Frequency Aggregator	Other	Sub	470	A=1.000	insCACAA=0.000, ins(CA)₃GA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A=1.000	insCACAA=0.000, ins(CA)₃GA=0.000
Allele Frequency Aggregator	Asian	Sub	108	A=1.000	insCACAA=0.000, ins(CA)₃GA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	A=1.00	insCACAA=0.00, ins(CA)₃GA=0.00

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 15	NC_000015.10:g.39744811AC[2]AA[1]
GRCh38.p14 chr 15	NC_000015.10:g.39744811AC[3]AGA[1]
GRCh38.p14 chr 15	NC_000015.10:g.39744811_39744812insCAGTTCCCCATA
GRCh37.p13 chr 15	NC_000015.9:g.40037012AC[2]AA[1]
GRCh37.p13 chr 15	NC_000015.9:g.40037012AC[3]AGA[1]
GRCh37.p13 chr 15	NC_000015.9:g.40037012_40037013insCAGTTCCCCATA

Gene: FSIP1, fibrous sheath interacting protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FSIP1 transcript variant 2	NM_001324338.2:c.560-2911… NM_001324338.2:c.560-2911_560-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant 1	NM_152597.5:c.560-2911_56… NM_152597.5:c.560-2911_560-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X1	XM_011521305.4:c.560-2911… XM_011521305.4:c.560-2911_560-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X2	XM_011521306.3:c.560-2911… XM_011521306.3:c.560-2911_560-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X4	XM_011521309.4:c.560-2911… XM_011521309.4:c.560-2911_560-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X5	XM_011521311.4:c.-71-2911… XM_011521311.4:c.-71-2911_-71-2910insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X6	XM_017021972.3:c.-72+2491… XM_017021972.3:c.-72+2491_-72+2492insTTGTG	N/A	Intron Variant
FSIP1 transcript variant X3	XM_047432212.1:c.560-2911… XM_047432212.1:c.560-2911_560-2910insTTGTG	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=	insCACAA	ins(CA)₃GA	insCAGTT(C)₄ATA
GRCh38.p14 chr 15	NC_000015.10:g.39744811=	NC_000015.10:g.39744811AC[2]AA[1]	NC_000015.10:g.39744811AC[3]AGA[1]	NC_000015.10:g.39744811_39744812insCAGTTCCCCATA
GRCh37.p13 chr 15	NC_000015.9:g.40037012=	NC_000015.9:g.40037012AC[2]AA[1]	NC_000015.9:g.40037012AC[3]AGA[1]	NC_000015.9:g.40037012_40037013insCAGTTCCCCATA
FSIP1 transcript variant 2	NM_001324338.2:c.560-2911=	NM_001324338.2:c.560-2911_560-2910insTTGTG	NM_001324338.2:c.560-2911_560-2910insTCTGTGTG	NM_001324338.2:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant 1	NM_152597.4:c.560-2911=	NM_152597.4:c.560-2911_560-2910insTTGTG	NM_152597.4:c.560-2911_560-2910insTCTGTGTG	NM_152597.4:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant 1	NM_152597.5:c.560-2911=	NM_152597.5:c.560-2911_560-2910insTTGTG	NM_152597.5:c.560-2911_560-2910insTCTGTGTG	NM_152597.5:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X1	XM_005254208.1:c.560-2911=	XM_005254208.1:c.560-2911_560-2910insTTGTG	XM_005254208.1:c.560-2911_560-2910insTCTGTGTG	XM_005254208.1:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X2	XM_005254209.1:c.560-2911=	XM_005254209.1:c.560-2911_560-2910insTTGTG	XM_005254209.1:c.560-2911_560-2910insTCTGTGTG	XM_005254209.1:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X3	XM_005254210.1:c.-9-2911=	XM_005254210.1:c.-9-2911_-9-2910insTTGTG	XM_005254210.1:c.-9-2911_-9-2910insTCTGTGTG	XM_005254210.1:c.-9-2911_-9-2910insTATGGGGAACTG
FSIP1 transcript variant X1	XM_011521305.4:c.560-2911=	XM_011521305.4:c.560-2911_560-2910insTTGTG	XM_011521305.4:c.560-2911_560-2910insTCTGTGTG	XM_011521305.4:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X2	XM_011521306.3:c.560-2911=	XM_011521306.3:c.560-2911_560-2910insTTGTG	XM_011521306.3:c.560-2911_560-2910insTCTGTGTG	XM_011521306.3:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X4	XM_011521309.4:c.560-2911=	XM_011521309.4:c.560-2911_560-2910insTTGTG	XM_011521309.4:c.560-2911_560-2910insTCTGTGTG	XM_011521309.4:c.560-2911_560-2910insTATGGGGAACTG
FSIP1 transcript variant X5	XM_011521311.4:c.-71-2911=	XM_011521311.4:c.-71-2911_-71-2910insTTGTG	XM_011521311.4:c.-71-2911_-71-2910insTCTGTGTG	XM_011521311.4:c.-71-2911_-71-2910insTATGGGGAACTG
FSIP1 transcript variant X6	XM_017021972.3:c.-72+2491=	XM_017021972.3:c.-72+2491_-72+2492insTTGTG	XM_017021972.3:c.-72+2491_-72+2492insTCTGTGTG	XM_017021972.3:c.-72+2491_-72+2492insTATGGGGAACTG
FSIP1 transcript variant X3	XM_047432212.1:c.560-2911=	XM_047432212.1:c.560-2911_560-2910insTTGTG	XM_047432212.1:c.560-2911_560-2910insTCTGTGTG	XM_047432212.1:c.560-2911_560-2910insTATGGGGAACTG

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#.

2 SubSNP, 3 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96793122	Feb 05, 2009 (130)
2	GNOMAD	ss2933925105	Jan 10, 2018 (151)
3	gnomAD - Genomes Submission ignored due to conflicting rows: Row 466569892 (NC_000015.10:39744810::ACACA 1/134362) Row 466569893 (NC_000015.10:39744810::ACACACAG 1/134362)	-	Apr 26, 2021 (155)
4	gnomAD - Genomes Submission ignored due to conflicting rows: Row 466569892 (NC_000015.10:39744810::ACACA 1/134362) Row 466569893 (NC_000015.10:39744810::ACACACAG 1/134362)	-	Apr 26, 2021 (155)
5	ALFA	NC_000015.10 - 39744811	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
	NC_000015.10:39744810::ACACA	NC_000015.10:39744810:A:ACACAA	(self)
6641333454	NC_000015.10:39744810:A:ACACAA	NC_000015.10:39744810:A:ACACAA	(self)
ss2933925105	NC_000015.9:40037011::ACACACAG	NC_000015.10:39744810:A:ACACACAGA	(self)
	NC_000015.10:39744810::ACACACAG	NC_000015.10:39744810:A:ACACACAGA	(self)
6641333454	NC_000015.10:39744810:A:ACACACAGA	NC_000015.10:39744810:A:ACACACAGA	(self)
ss96793122	NT_010194.17:10827567:C:CACAGTTCCC… NT_010194.17:10827567:C:CACAGTTCCCCAT	NC_000015.10:39744810:A:ACAGTTCCCC… NC_000015.10:39744810:A:ACAGTTCCCCATA	(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 rs67193385

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs67193385