Name: rs1435209050
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.

rs1435209050

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:6781745-6781757 (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: delAT / dupAT
Variation Type: Indel Insertion and Deletion
Frequency: dupAT=0.00004 (1/23250, 14KJPN)
dupAT=0.00007 (1/14044, 8.3KJPN)
delAT=0.00000 (0/11860, ALFA) (+ 1 more)
dupAT=0.00000 (0/11860, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RSPH10B2 : 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	11860	TATATATATATAT=1.00000	TATATATATAT=0.00000, TATATATATATATAT=0.00000	1.0	N/A
European	Sub	7618	TATATATATATAT=1.0000	TATATATATAT=0.0000, TATATATATATATAT=0.0000	1.0	N/A
African	Sub	2816	TATATATATATAT=1.0000	TATATATATAT=0.0000, TATATATATATATAT=0.0000	1.0	N/A
African Others	Sub	108	TATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATATAT=0.000	1.0	N/A
African American	Sub	2708	TATATATATATAT=1.0000	TATATATATAT=0.0000, TATATATATATATAT=0.0000	1.0	N/A
Asian	Sub	108	TATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATATAT=0.000	1.0	N/A
East Asian	Sub	84	TATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATATAT=0.00	1.0	N/A
Other Asian	Sub	24	TATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATATAT=0.00	1.0	N/A
Latin American 1	Sub	146	TATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATATAT=0.000	1.0	N/A
Latin American 2	Sub	610	TATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATATAT=0.000	1.0	N/A
South Asian	Sub	94	TATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATATAT=0.00	1.0	N/A
Other	Sub	468	TATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATATAT=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
14KJPN	JAPANESE	Study-wide	23250	- No frequency provided	dupAT=0.00004
8.3KJPN	JAPANESE	Study-wide	14044	- No frequency provided	dupAT=0.00007
Allele Frequency Aggregator	Total	Global	11860	(TA)₆T=1.00000	delAT=0.00000, dupAT=0.00000
Allele Frequency Aggregator	European	Sub	7618	(TA)₆T=1.0000	delAT=0.0000, dupAT=0.0000
Allele Frequency Aggregator	African	Sub	2816	(TA)₆T=1.0000	delAT=0.0000, dupAT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(TA)₆T=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	Other	Sub	468	(TA)₆T=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(TA)₆T=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	Asian	Sub	108	(TA)₆T=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(TA)₆T=1.00	delAT=0.00, dupAT=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 7	NC_000007.14:g.6781746AT[5]
GRCh38.p14 chr 7	NC_000007.14:g.6781746AT[7]
GRCh37.p13 chr 7	NC_000007.13:g.6821377AT[5]
GRCh37.p13 chr 7	NC_000007.13:g.6821377AT[7]

Gene: RSPH10B2, radial spoke head 10 homolog B2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RSPH10B2 transcript	NM_001099697.2:c.1758+269… NM_001099697.2:c.1758+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X11	XM_005249833.5:c.1134+269… XM_005249833.5:c.1134+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X3	XM_006715766.3:c.1773+269… XM_006715766.3:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X4	XM_011515491.2:c.1773+269… XM_011515491.2:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X5	XM_011515493.2:c.1773+269… XM_011515493.2:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X2	XM_024446902.2:c.1773+269… XM_024446902.2:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X6	XM_024446903.2:c.1758+269… XM_024446903.2:c.1758+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X7	XM_024446904.2:c.1578+269… XM_024446904.2:c.1578+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X8	XM_024446905.2:c.1563+269… XM_024446905.2:c.1563+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X10	XM_024446906.2:c.1773+269… XM_024446906.2:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X1	XM_047420782.1:c.1773+269… XM_047420782.1:c.1773+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X9	XM_047420783.1:c.1563+269… XM_047420783.1:c.1563+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X12	XM_047420784.1:c.1119+269… XM_047420784.1:c.1119+269TA[5]	N/A	Intron Variant
RSPH10B2 transcript variant X13	XM_024446908.2:c.	N/A	Genic Downstream 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	(TA)₆T=	delAT	dupAT
GRCh38.p14 chr 7	NC_000007.14:g.6781745_6781757=	NC_000007.14:g.6781746AT[5]	NC_000007.14:g.6781746AT[7]
GRCh37.p13 chr 7	NC_000007.13:g.6821376_6821388=	NC_000007.13:g.6821377AT[5]	NC_000007.13:g.6821377AT[7]
RSPH10B2 transcript	NM_001099697.1:c.1758+269=	NM_001099697.1:c.1758+269TA[5]	NM_001099697.1:c.1758+269TA[7]
RSPH10B2 transcript	NM_001099697.2:c.1758+269=	NM_001099697.2:c.1758+269TA[5]	NM_001099697.2:c.1758+269TA[7]
RSPH10B2 transcript variant X1	XM_005249830.1:c.1758+269=	XM_005249830.1:c.1758+269TA[5]	XM_005249830.1:c.1758+269TA[7]
RSPH10B2 transcript variant X2	XM_005249831.1:c.1773+269=	XM_005249831.1:c.1773+269TA[5]	XM_005249831.1:c.1773+269TA[7]
RSPH10B2 transcript variant X3	XM_005249832.1:c.1578+269=	XM_005249832.1:c.1578+269TA[5]	XM_005249832.1:c.1578+269TA[7]
RSPH10B2 transcript variant X4	XM_005249833.1:c.1134+269=	XM_005249833.1:c.1134+269TA[5]	XM_005249833.1:c.1134+269TA[7]
RSPH10B2 transcript variant X11	XM_005249833.5:c.1134+269=	XM_005249833.5:c.1134+269TA[5]	XM_005249833.5:c.1134+269TA[7]
RSPH10B2 transcript variant X3	XM_006715766.3:c.1773+269=	XM_006715766.3:c.1773+269TA[5]	XM_006715766.3:c.1773+269TA[7]
RSPH10B2 transcript variant X4	XM_011515491.2:c.1773+269=	XM_011515491.2:c.1773+269TA[5]	XM_011515491.2:c.1773+269TA[7]
RSPH10B2 transcript variant X5	XM_011515493.2:c.1773+269=	XM_011515493.2:c.1773+269TA[5]	XM_011515493.2:c.1773+269TA[7]
RSPH10B2 transcript variant X2	XM_024446902.2:c.1773+269=	XM_024446902.2:c.1773+269TA[5]	XM_024446902.2:c.1773+269TA[7]
RSPH10B2 transcript variant X6	XM_024446903.2:c.1758+269=	XM_024446903.2:c.1758+269TA[5]	XM_024446903.2:c.1758+269TA[7]
RSPH10B2 transcript variant X7	XM_024446904.2:c.1578+269=	XM_024446904.2:c.1578+269TA[5]	XM_024446904.2:c.1578+269TA[7]
RSPH10B2 transcript variant X8	XM_024446905.2:c.1563+269=	XM_024446905.2:c.1563+269TA[5]	XM_024446905.2:c.1563+269TA[7]
RSPH10B2 transcript variant X10	XM_024446906.2:c.1773+269=	XM_024446906.2:c.1773+269TA[5]	XM_024446906.2:c.1773+269TA[7]
RSPH10B2 transcript variant X1	XM_047420782.1:c.1773+269=	XM_047420782.1:c.1773+269TA[5]	XM_047420782.1:c.1773+269TA[7]
RSPH10B2 transcript variant X9	XM_047420783.1:c.1563+269=	XM_047420783.1:c.1563+269TA[5]	XM_047420783.1:c.1563+269TA[7]
RSPH10B2 transcript variant X12	XM_047420784.1:c.1119+269=	XM_047420784.1:c.1119+269TA[5]	XM_047420784.1:c.1119+269TA[7]

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#.

4 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4157591246	Apr 26, 2021 (155)
2	GNOMAD	ss4157591247	Apr 26, 2021 (155)
3	TOMMO_GENOMICS	ss5181612904	Apr 26, 2021 (155)
4	TOMMO_GENOMICS	ss5721012460	Oct 13, 2022 (156)
5	gnomAD - Genomes Submission ignored due to conflicting rows: Row 251572353 (NC_000007.14:6781744::TA 16/88842) Row 251572354 (NC_000007.14:6781744:TA: 5/88836)	-	Apr 26, 2021 (155)
6	gnomAD - Genomes Submission ignored due to conflicting rows: Row 251572353 (NC_000007.14:6781744::TA 16/88842) Row 251572354 (NC_000007.14:6781744:TA: 5/88836)	-	Apr 26, 2021 (155)
7	8.3KJPN	NC_000007.13 - 6821376	Apr 26, 2021 (155)
8	14KJPN	NC_000007.14 - 6781745	Oct 13, 2022 (156)
9	ALFA	NC_000007.14 - 6781745	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
ss4157591247	NC_000007.14:6781744:TA:	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATAT	(self)
1839291374	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATAT	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATAT	(self)
39582211, ss5181612904	NC_000007.13:6821375::TA	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATATATAT	(self)
54849564, ss4157591246, ss5721012460	NC_000007.14:6781744::TA	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATATATAT	(self)
1839291374	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATATATAT	NC_000007.14:6781744:TATATATATATAT… NC_000007.14:6781744:TATATATATATAT:TATATATATATATAT	(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 rs1435209050

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

rs1435209050