Name: rs1191851329
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.

rs1191851329

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:15680948-15680953 (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(T)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.000008 (2/264690, TOPMED)
del(T)₄=0.000015 (2/136288, GnomAD)
delTTT=0.00006 (1/16332, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM200B : Intron Variant
FBXL5 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HTRZ	HWEP
Total	Global	16332	TTTTTT=0.99994	TT=0.00000, TTT=0.00006, TTTT=0.00000, TTTTT=0.00000, TTTTTTT=0.00000	0.999878	0.000122	0
European	Sub	12080	TTTTTT=0.99992	TT=0.00000, TTT=0.00008, TTTT=0.00000, TTTTT=0.00000, TTTTTTT=0.00000	0.999834	0.000166	0
African	Sub	2816	TTTTTT=1.0000	TT=0.0000, TTT=0.0000, TTTT=0.0000, TTTTT=0.0000, TTTTTTT=0.0000	1.0	0.0	N/A
African Others	Sub	108	TTTTTT=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTTT=0.000	1.0	0.0	N/A
African American	Sub	2708	TTTTTT=1.0000	TT=0.0000, TTT=0.0000, TTTT=0.0000, TTTTT=0.0000, TTTTTTT=0.0000	1.0	0.0	N/A
Asian	Sub	108	TTTTTT=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTTT=0.000	1.0	0.0	N/A
East Asian	Sub	84	TTTTTT=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	24	TTTTTT=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	TTTTTT=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTTT=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	TTTTTT=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	94	TTTTTT=1.00	TT=0.00, TTT=0.00, TTTT=0.00, TTTTT=0.00, TTTTTTT=0.00	1.0	0.0	N/A
Other	Sub	478	TTTTTT=1.000	TT=0.000, TTT=0.000, TTTT=0.000, TTTTT=0.000, TTTTTTT=0.000	1.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	dupT=0.000008
gnomAD - Genomes	Global	Study-wide	136288	(T)₆=0.999985	del(T)₄=0.000015
gnomAD - Genomes	European	Sub	73400	(T)₆=1.00000	del(T)₄=0.00000
gnomAD - Genomes	African	Sub	41220	(T)₆=1.00000	del(T)₄=0.00000
gnomAD - Genomes	American	Sub	13150	(T)₆=1.00000	del(T)₄=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	(T)₆=1.0000	del(T)₄=0.0000
gnomAD - Genomes	East Asian	Sub	3116	(T)₆=1.0000	del(T)₄=0.0000
gnomAD - Genomes	Other	Sub	2086	(T)₆=0.9990	del(T)₄=0.0010
Allele Frequency Aggregator	Total	Global	16332	(T)₆=0.99994	del(T)₄=0.00000, delTTT=0.00006, delTT=0.00000, delT=0.00000, dupT=0.00000
Allele Frequency Aggregator	European	Sub	12080	(T)₆=0.99992	del(T)₄=0.00000, delTTT=0.00008, delTT=0.00000, delT=0.00000, dupT=0.00000
Allele Frequency Aggregator	African	Sub	2816	(T)₆=1.0000	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(T)₆=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	478	(T)₆=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₆=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Asian	Sub	108	(T)₆=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₆=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=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 4	NC_000004.12:g.15680950_15680953del
GRCh38.p14 chr 4	NC_000004.12:g.15680951_15680953del
GRCh38.p14 chr 4	NC_000004.12:g.15680952_15680953del
GRCh38.p14 chr 4	NC_000004.12:g.15680953del
GRCh38.p14 chr 4	NC_000004.12:g.15680953dup
GRCh37.p13 chr 4	NC_000004.11:g.15682573_15682576del
GRCh37.p13 chr 4	NC_000004.11:g.15682574_15682576del
GRCh37.p13 chr 4	NC_000004.11:g.15682575_15682576del
GRCh37.p13 chr 4	NC_000004.11:g.15682576del
GRCh37.p13 chr 4	NC_000004.11:g.15682576dup

Gene: FAM200B, family with sequence similarity 200 member B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM200B transcript	NM_001145191.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X12	XM_047450110.1:c.-852-390… XM_047450110.1:c.-852-3900_-852-3897del	N/A	Intron Variant
FAM200B transcript variant X13	XM_047450112.1:c.-852-390… XM_047450112.1:c.-852-3900_-852-3897del	N/A	Intron Variant
FAM200B transcript variant X3	XM_017008048.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X6	XM_024453999.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X7	XM_024454000.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X10	XM_024454001.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X11	XM_024454003.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X14	XM_024454005.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X15	XM_024454006.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X16	XM_024454008.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X18	XM_024454009.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X19	XM_024454010.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X22	XM_024454011.2:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X1	XM_047450103.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X2	XM_047450104.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X4	XM_047450106.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X5	XM_047450107.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X8	XM_047450108.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X9	XM_047450109.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X17	XM_047450113.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X20	XM_047450114.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X21	XM_047450115.1:c.	N/A	Genic Upstream Transcript Variant
FAM200B transcript variant X23	XM_047450117.1:c.	N/A	Genic Upstream Transcript Variant

Gene: FBXL5, F-box and leucine rich repeat protein 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FBXL5 transcript variant 3	NM_001193534.2:c.	N/A	Genic Upstream Transcript Variant
FBXL5 transcript variant 4	NM_001193535.2:c.	N/A	Genic Upstream Transcript Variant
FBXL5 transcript variant 1	NM_012161.4:c.	N/A	Genic Upstream Transcript Variant
FBXL5 transcript variant 2	NR_036464.2:n.	N/A	Genic Upstream Transcript Variant
FBXL5 transcript variant X5	XM_006713959.4:c.-284+329… XM_006713959.4:c.-284+329_-284+332del	N/A	Intron Variant
FBXL5 transcript variant X10	XM_011513831.3:c.-267+329… XM_011513831.3:c.-267+329_-267+332del	N/A	Intron Variant
FBXL5 transcript variant X16	XM_017008019.3:c.-892+329… XM_017008019.3:c.-892+329_-892+332del	N/A	Intron Variant
FBXL5 transcript variant X1	XM_047450049.1:c.-281+329… XM_047450049.1:c.-281+329_-281+332del	N/A	Intron Variant
FBXL5 transcript variant X2	XM_047450050.1:c.-932+402… XM_047450050.1:c.-932+402_-932+405del	N/A	Intron Variant
FBXL5 transcript variant X3	XM_047450051.1:c.-946+329… XM_047450051.1:c.-946+329_-946+332del	N/A	Intron Variant
FBXL5 transcript variant X4	XM_047450052.1:c.-949+329… XM_047450052.1:c.-949+329_-949+332del	N/A	Intron Variant
FBXL5 transcript variant X6	XM_047450053.1:c.-270+329… XM_047450053.1:c.-270+329_-270+332del	N/A	Intron Variant
FBXL5 transcript variant X7	XM_047450054.1:c.-267+329… XM_047450054.1:c.-267+329_-267+332del	N/A	Intron Variant
FBXL5 transcript variant X8	XM_047450055.1:c.-270+402… XM_047450055.1:c.-270+402_-270+405del	N/A	Intron Variant
FBXL5 transcript variant X9	XM_047450056.1:c.-267+402… XM_047450056.1:c.-267+402_-267+405del	N/A	Intron Variant
FBXL5 transcript variant X11	XM_047450057.1:c.-284+329… XM_047450057.1:c.-284+329_-284+332del	N/A	Intron Variant
FBXL5 transcript variant X12	XM_047450058.1:c.-281+329… XM_047450058.1:c.-281+329_-281+332del	N/A	Intron Variant
FBXL5 transcript variant X13	XM_047450059.1:c.-281+402… XM_047450059.1:c.-281+402_-281+405del	N/A	Intron Variant
FBXL5 transcript variant X14	XM_047450060.1:c.-935+329… XM_047450060.1:c.-935+329_-935+332del	N/A	Intron Variant
FBXL5 transcript variant X15	XM_047450061.1:c.-943+329… XM_047450061.1:c.-943+329_-943+332del	N/A	Intron Variant
FBXL5 transcript variant X17	XM_011513833.3:c.	N/A	Genic Upstream Transcript 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	(T)₆=	del(T)₄	delTTT	delTT	delT	dupT
GRCh38.p14 chr 4	NC_000004.12:g.15680948_15680953=	NC_000004.12:g.15680950_15680953del	NC_000004.12:g.15680951_15680953del	NC_000004.12:g.15680952_15680953del	NC_000004.12:g.15680953del	NC_000004.12:g.15680953dup
GRCh37.p13 chr 4	NC_000004.11:g.15682571_15682576=	NC_000004.11:g.15682573_15682576del	NC_000004.11:g.15682574_15682576del	NC_000004.11:g.15682575_15682576del	NC_000004.11:g.15682576del	NC_000004.11:g.15682576dup
FBXL5 transcript variant X5	XM_006713959.4:c.-284+332=	XM_006713959.4:c.-284+329_-284+332del	XM_006713959.4:c.-284+330_-284+332del	XM_006713959.4:c.-284+331_-284+332del	XM_006713959.4:c.-284+332del	XM_006713959.4:c.-284+332dup
FBXL5 transcript variant X10	XM_011513831.3:c.-267+332=	XM_011513831.3:c.-267+329_-267+332del	XM_011513831.3:c.-267+330_-267+332del	XM_011513831.3:c.-267+331_-267+332del	XM_011513831.3:c.-267+332del	XM_011513831.3:c.-267+332dup
FBXL5 transcript variant X16	XM_017008019.3:c.-892+332=	XM_017008019.3:c.-892+329_-892+332del	XM_017008019.3:c.-892+330_-892+332del	XM_017008019.3:c.-892+331_-892+332del	XM_017008019.3:c.-892+332del	XM_017008019.3:c.-892+332dup
FBXL5 transcript variant X1	XM_047450049.1:c.-281+332=	XM_047450049.1:c.-281+329_-281+332del	XM_047450049.1:c.-281+330_-281+332del	XM_047450049.1:c.-281+331_-281+332del	XM_047450049.1:c.-281+332del	XM_047450049.1:c.-281+332dup
FBXL5 transcript variant X2	XM_047450050.1:c.-932+405=	XM_047450050.1:c.-932+402_-932+405del	XM_047450050.1:c.-932+403_-932+405del	XM_047450050.1:c.-932+404_-932+405del	XM_047450050.1:c.-932+405del	XM_047450050.1:c.-932+405dup
FBXL5 transcript variant X3	XM_047450051.1:c.-946+332=	XM_047450051.1:c.-946+329_-946+332del	XM_047450051.1:c.-946+330_-946+332del	XM_047450051.1:c.-946+331_-946+332del	XM_047450051.1:c.-946+332del	XM_047450051.1:c.-946+332dup
FBXL5 transcript variant X4	XM_047450052.1:c.-949+332=	XM_047450052.1:c.-949+329_-949+332del	XM_047450052.1:c.-949+330_-949+332del	XM_047450052.1:c.-949+331_-949+332del	XM_047450052.1:c.-949+332del	XM_047450052.1:c.-949+332dup
FBXL5 transcript variant X6	XM_047450053.1:c.-270+332=	XM_047450053.1:c.-270+329_-270+332del	XM_047450053.1:c.-270+330_-270+332del	XM_047450053.1:c.-270+331_-270+332del	XM_047450053.1:c.-270+332del	XM_047450053.1:c.-270+332dup
FBXL5 transcript variant X7	XM_047450054.1:c.-267+332=	XM_047450054.1:c.-267+329_-267+332del	XM_047450054.1:c.-267+330_-267+332del	XM_047450054.1:c.-267+331_-267+332del	XM_047450054.1:c.-267+332del	XM_047450054.1:c.-267+332dup
FBXL5 transcript variant X8	XM_047450055.1:c.-270+405=	XM_047450055.1:c.-270+402_-270+405del	XM_047450055.1:c.-270+403_-270+405del	XM_047450055.1:c.-270+404_-270+405del	XM_047450055.1:c.-270+405del	XM_047450055.1:c.-270+405dup
FBXL5 transcript variant X9	XM_047450056.1:c.-267+405=	XM_047450056.1:c.-267+402_-267+405del	XM_047450056.1:c.-267+403_-267+405del	XM_047450056.1:c.-267+404_-267+405del	XM_047450056.1:c.-267+405del	XM_047450056.1:c.-267+405dup
FBXL5 transcript variant X11	XM_047450057.1:c.-284+332=	XM_047450057.1:c.-284+329_-284+332del	XM_047450057.1:c.-284+330_-284+332del	XM_047450057.1:c.-284+331_-284+332del	XM_047450057.1:c.-284+332del	XM_047450057.1:c.-284+332dup
FBXL5 transcript variant X12	XM_047450058.1:c.-281+332=	XM_047450058.1:c.-281+329_-281+332del	XM_047450058.1:c.-281+330_-281+332del	XM_047450058.1:c.-281+331_-281+332del	XM_047450058.1:c.-281+332del	XM_047450058.1:c.-281+332dup
FBXL5 transcript variant X13	XM_047450059.1:c.-281+405=	XM_047450059.1:c.-281+402_-281+405del	XM_047450059.1:c.-281+403_-281+405del	XM_047450059.1:c.-281+404_-281+405del	XM_047450059.1:c.-281+405del	XM_047450059.1:c.-281+405dup
FBXL5 transcript variant X14	XM_047450060.1:c.-935+332=	XM_047450060.1:c.-935+329_-935+332del	XM_047450060.1:c.-935+330_-935+332del	XM_047450060.1:c.-935+331_-935+332del	XM_047450060.1:c.-935+332del	XM_047450060.1:c.-935+332dup
FBXL5 transcript variant X15	XM_047450061.1:c.-943+332=	XM_047450061.1:c.-943+329_-943+332del	XM_047450061.1:c.-943+330_-943+332del	XM_047450061.1:c.-943+331_-943+332del	XM_047450061.1:c.-943+332del	XM_047450061.1:c.-943+332dup
FAM200B transcript variant X12	XM_047450110.1:c.-852-3902=	XM_047450110.1:c.-852-3900_-852-3897del	XM_047450110.1:c.-852-3899_-852-3897del	XM_047450110.1:c.-852-3898_-852-3897del	XM_047450110.1:c.-852-3897del	XM_047450110.1:c.-852-3897dup
FAM200B transcript variant X13	XM_047450112.1:c.-852-3902=	XM_047450112.1:c.-852-3900_-852-3897del	XM_047450112.1:c.-852-3899_-852-3897del	XM_047450112.1:c.-852-3898_-852-3897del	XM_047450112.1:c.-852-3897del	XM_047450112.1:c.-852-3897dup

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	GNOMAD	ss4091242907	Apr 26, 2021 (155)
2	TOPMED	ss4604197085	Apr 26, 2021 (155)
3	gnomAD - Genomes	NC_000004.12 - 15680948	Apr 26, 2021 (155)
4	TopMed	NC_000004.12 - 15680948	Apr 26, 2021 (155)
5	ALFA	NC_000004.12 - 15680948	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
141380231, ss4091242907	NC_000004.12:15680947:TTTT:	NC_000004.12:15680947:TTTTTT:TT	(self)
7517335586	NC_000004.12:15680947:TTTTTT:TT	NC_000004.12:15680947:TTTTTT:TT	(self)
7517335586	NC_000004.12:15680947:TTTTTT:TTT	NC_000004.12:15680947:TTTTTT:TTT	(self)
7517335586	NC_000004.12:15680947:TTTTTT:TTTT	NC_000004.12:15680947:TTTTTT:TTTT	(self)
7517335586	NC_000004.12:15680947:TTTTTT:TTTTT	NC_000004.12:15680947:TTTTTT:TTTTT	(self)
441574641, ss4604197085	NC_000004.12:15680947::T	NC_000004.12:15680947:TTTTTT:TTTTT… NC_000004.12:15680947:TTTTTT:TTTTTTT	(self)
7517335586	NC_000004.12:15680947:TTTTTT:TTTTT… NC_000004.12:15680947:TTTTTT:TTTTTTT	NC_000004.12:15680947:TTTTTT:TTTTT… NC_000004.12:15680947:TTTTTT:TTTTTTT	(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 rs1191851329

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

rs1191851329