Name: rs1542396
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.

rs1542396

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:79354150 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.309060 (81805/264690, TOPMED)
T=0.315983 (44256/140058, GnomAD)
T=0.30635 (16584/54134, ALFA) (+ 16 more)
T=0.16997 (4803/28258, 14KJPN)
T=0.17220 (2886/16760, 8.3KJPN)
T=0.2622 (1679/6404, 1000G_30x)
T=0.2630 (1317/5008, 1000G)
T=0.3533 (1583/4480, Estonian)
T=0.2958 (1140/3854, ALSPAC)
T=0.2980 (1105/3708, TWINSUK)
T=0.2089 (612/2930, KOREAN)
T=0.2129 (390/1832, Korea1K)
T=0.308 (307/998, GoNL)
T=0.380 (228/600, NorthernSweden)
T=0.199 (103/518, SGDP_PRJ)
T=0.253 (78/308, HapMap)
T=0.241 (52/216, Qatari)
T=0.28 (11/40, GENOME_DK)
T=0.20 (8/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RBFOX3 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	54134	T=0.30635	C=0.69365
European	Sub	42670	T=0.30476	C=0.69524
African	Sub	5032	T=0.3492	C=0.6508
African Others	Sub	182	T=0.319	C=0.681
African American	Sub	4850	T=0.3503	C=0.6497
Asian	Sub	452	T=0.206	C=0.794
East Asian	Sub	384	T=0.208	C=0.792
Other Asian	Sub	68	T=0.19	C=0.81
Latin American 1	Sub	528	T=0.322	C=0.678
Latin American 2	Sub	926	T=0.293	C=0.707
South Asian	Sub	178	T=0.101	C=0.899
Other	Sub	4348	T=0.2923	C=0.7077

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	T=0.309060	C=0.690940
gnomAD - Genomes	Global	Study-wide	140058	T=0.315983	C=0.684017
gnomAD - Genomes	European	Sub	75908	T=0.31425	C=0.68575
gnomAD - Genomes	African	Sub	41896	T=0.33781	C=0.66219
gnomAD - Genomes	American	Sub	13648	T=0.28817	C=0.71183
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2932	C=0.7068
gnomAD - Genomes	East Asian	Sub	3132	T=0.2200	C=0.7800
gnomAD - Genomes	Other	Sub	2152	T=0.3034	C=0.6966
Allele Frequency Aggregator	Total	Global	54134	T=0.30635	C=0.69365
Allele Frequency Aggregator	European	Sub	42670	T=0.30476	C=0.69524
Allele Frequency Aggregator	African	Sub	5032	T=0.3492	C=0.6508
Allele Frequency Aggregator	Other	Sub	4348	T=0.2923	C=0.7077
Allele Frequency Aggregator	Latin American 2	Sub	926	T=0.293	C=0.707
Allele Frequency Aggregator	Latin American 1	Sub	528	T=0.322	C=0.678
Allele Frequency Aggregator	Asian	Sub	452	T=0.206	C=0.794
Allele Frequency Aggregator	South Asian	Sub	178	T=0.101	C=0.899
14KJPN	JAPANESE	Study-wide	28258	T=0.16997	C=0.83003
8.3KJPN	JAPANESE	Study-wide	16760	T=0.17220	C=0.82780
1000Genomes_30x	Global	Study-wide	6404	T=0.2622	C=0.7378
1000Genomes_30x	African	Sub	1786	T=0.3438	C=0.6562
1000Genomes_30x	Europe	Sub	1266	T=0.3081	C=0.6919
1000Genomes_30x	South Asian	Sub	1202	T=0.1364	C=0.8636
1000Genomes_30x	East Asian	Sub	1170	T=0.2205	C=0.7795
1000Genomes_30x	American	Sub	980	T=0.258	C=0.742
1000Genomes	Global	Study-wide	5008	T=0.2630	C=0.7370
1000Genomes	African	Sub	1322	T=0.3533	C=0.6467
1000Genomes	East Asian	Sub	1008	T=0.2202	C=0.7798
1000Genomes	Europe	Sub	1006	T=0.3052	C=0.6948
1000Genomes	South Asian	Sub	978	T=0.141	C=0.859
1000Genomes	American	Sub	694	T=0.264	C=0.736
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3533	C=0.6467
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2958	C=0.7042
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2980	C=0.7020
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2089	A=0.0000, C=0.7911, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2129	C=0.7871
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.308	C=0.692
Northern Sweden	ACPOP	Study-wide	600	T=0.380	C=0.620
SGDP_PRJ	Global	Study-wide	518	T=0.199	C=0.801
HapMap	Global	Study-wide	308	T=0.253	C=0.747
HapMap	American	Sub	118	T=0.288	C=0.712
HapMap	African	Sub	104	T=0.288	C=0.712
HapMap	Asian	Sub	86	T=0.16	C=0.84
Qatari	Global	Study-wide	216	T=0.241	C=0.759
The Danish reference pan genome	Danish	Study-wide	40	T=0.28	C=0.72
Siberian	Global	Study-wide	40	T=0.20	C=0.80

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 17	NC_000017.11:g.79354150T>A
GRCh38.p14 chr 17	NC_000017.11:g.79354150T>C
GRCh38.p14 chr 17	NC_000017.11:g.79354150T>G
GRCh37.p13 chr 17	NC_000017.10:g.77350232T>A
GRCh37.p13 chr 17	NC_000017.10:g.77350232T>C
GRCh37.p13 chr 17	NC_000017.10:g.77350232T>G
RBFOX3 RefSeqGene	NG_053112.1:g.262054A>T
RBFOX3 RefSeqGene	NG_053112.1:g.262054A>G
RBFOX3 RefSeqGene	NG_053112.1:g.262054A>C

Gene: RBFOX3, RNA binding fox-1 homolog 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBFOX3 transcript variant 1	NM_001082575.3:c.-174-463… NM_001082575.3:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 2	NM_001350451.2:c.-174-463… NM_001350451.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 3	NM_001350453.2:c.-134-463… NM_001350453.2:c.-134-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 4	NM_001385804.1:c.-174-463… NM_001385804.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 5	NM_001385805.1:c.-174-463… NM_001385805.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 6	NM_001385806.1:c.-174-463… NM_001385806.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 7	NM_001385807.1:c.-174-463… NM_001385807.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 8	NM_001385808.1:c.-174-463… NM_001385808.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 9	NM_001385809.1:c.-378-463… NM_001385809.1:c.-378-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 10	NM_001385810.1:c.-174-463… NM_001385810.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 11	NM_001385811.1:c.-174-463… NM_001385811.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 12	NM_001385812.1:c.-134-463… NM_001385812.1:c.-134-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 13	NM_001385813.1:c.-363-463… NM_001385813.1:c.-363-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 14	NM_001385814.1:c.-134-463… NM_001385814.1:c.-134-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 15	NM_001385815.1:c.-174-463… NM_001385815.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 16	NM_001385816.1:c.-174-463… NM_001385816.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 17	NM_001385817.1:c.-174-463… NM_001385817.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 18	NM_001385818.1:c.-245-463… NM_001385818.1:c.-245-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 19	NM_001385819.1:c.-174-463… NM_001385819.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 20	NM_001385820.1:c.-309-463… NM_001385820.1:c.-309-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 21	NM_001385821.1:c.-410-415… NM_001385821.1:c.-410-41551A>T	N/A	Intron Variant
RBFOX3 transcript variant 22	NM_001385822.1:c.-174-463… NM_001385822.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 23	NM_001385823.1:c.-174-463… NM_001385823.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 24	NM_001385824.1:c.-174-463… NM_001385824.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 25	NM_001385825.1:c.-174-463… NM_001385825.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 26	NM_001385826.1:c.-174-463… NM_001385826.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 27	NM_001385827.1:c.-174-463… NM_001385827.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 28	NM_001385828.1:c.-174-463… NM_001385828.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 29	NM_001385829.1:c.-174-463… NM_001385829.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 30	NM_001385830.1:c.-174-463… NM_001385830.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 31	NM_001385831.1:c.-174-463… NM_001385831.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 32	NM_001385832.1:c.-174-463… NM_001385832.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 33	NM_001385833.1:c.-174-463… NM_001385833.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 34	NM_001385834.1:c.-664-463… NM_001385834.1:c.-664-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 35	NM_001385835.1:c.-174-463… NM_001385835.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 36	NM_001385836.1:c.-174-463… NM_001385836.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 37	NM_001385837.1:c.-174-463… NM_001385837.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 38	NM_001385838.1:c.-174-463… NM_001385838.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 39	NM_001385839.1:c.-363-463… NM_001385839.1:c.-363-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 40	NM_001385840.1:c.-174-463… NM_001385840.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 41	NM_001385841.1:c.-174-463… NM_001385841.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 42	NM_001385842.1:c.-174-463… NM_001385842.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 43	NM_001385843.1:c.-174-463… NM_001385843.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 44	NM_001385844.1:c.-134-463… NM_001385844.1:c.-134-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 45	NM_001385845.1:c.-271-463… NM_001385845.1:c.-271-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 46	NM_001385846.1:c.-174-463… NM_001385846.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant 47	NM_001385847.1:c.-174-463… NM_001385847.1:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X5	XM_011524360.2:c.-363-463… XM_011524360.2:c.-363-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X8	XM_011524366.3:c.-174-463… XM_011524366.3:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X9	XM_011524367.3:c.-174-463… XM_011524367.3:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X6	XM_017024208.2:c.-134-463… XM_017024208.2:c.-134-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X7	XM_017024209.2:c.-174-463… XM_017024209.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X10	XM_017024211.3:c.-174-463… XM_017024211.3:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X4	XM_024450592.2:c.-174-463… XM_024450592.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X1	XM_024450593.2:c.-174-463… XM_024450593.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X3	XM_024450595.2:c.-174-463… XM_024450595.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X2	XM_024450596.2:c.-174-463… XM_024450596.2:c.-174-46326A>T	N/A	Intron Variant
RBFOX3 transcript variant X11	XM_047435405.1:c.-134-463… XM_047435405.1:c.-134-46326A>T	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	T=	A	C	G
GRCh38.p14 chr 17	NC_000017.11:g.79354150=	NC_000017.11:g.79354150T>A	NC_000017.11:g.79354150T>C	NC_000017.11:g.79354150T>G
GRCh37.p13 chr 17	NC_000017.10:g.77350232=	NC_000017.10:g.77350232T>A	NC_000017.10:g.77350232T>C	NC_000017.10:g.77350232T>G
RBFOX3 RefSeqGene	NG_053112.1:g.262054=	NG_053112.1:g.262054A>T	NG_053112.1:g.262054A>G	NG_053112.1:g.262054A>C
RBFOX3 transcript variant 1	NM_001082575.2:c.-174-46326=	NM_001082575.2:c.-174-46326A>T	NM_001082575.2:c.-174-46326A>G	NM_001082575.2:c.-174-46326A>C
RBFOX3 transcript variant 1	NM_001082575.3:c.-174-46326=	NM_001082575.3:c.-174-46326A>T	NM_001082575.3:c.-174-46326A>G	NM_001082575.3:c.-174-46326A>C
RBFOX3 transcript variant 2	NM_001350451.2:c.-174-46326=	NM_001350451.2:c.-174-46326A>T	NM_001350451.2:c.-174-46326A>G	NM_001350451.2:c.-174-46326A>C
RBFOX3 transcript variant 3	NM_001350453.2:c.-134-46326=	NM_001350453.2:c.-134-46326A>T	NM_001350453.2:c.-134-46326A>G	NM_001350453.2:c.-134-46326A>C
RBFOX3 transcript variant 4	NM_001385804.1:c.-174-46326=	NM_001385804.1:c.-174-46326A>T	NM_001385804.1:c.-174-46326A>G	NM_001385804.1:c.-174-46326A>C
RBFOX3 transcript variant 5	NM_001385805.1:c.-174-46326=	NM_001385805.1:c.-174-46326A>T	NM_001385805.1:c.-174-46326A>G	NM_001385805.1:c.-174-46326A>C
RBFOX3 transcript variant 6	NM_001385806.1:c.-174-46326=	NM_001385806.1:c.-174-46326A>T	NM_001385806.1:c.-174-46326A>G	NM_001385806.1:c.-174-46326A>C
RBFOX3 transcript variant 7	NM_001385807.1:c.-174-46326=	NM_001385807.1:c.-174-46326A>T	NM_001385807.1:c.-174-46326A>G	NM_001385807.1:c.-174-46326A>C
RBFOX3 transcript variant 8	NM_001385808.1:c.-174-46326=	NM_001385808.1:c.-174-46326A>T	NM_001385808.1:c.-174-46326A>G	NM_001385808.1:c.-174-46326A>C
RBFOX3 transcript variant 9	NM_001385809.1:c.-378-46326=	NM_001385809.1:c.-378-46326A>T	NM_001385809.1:c.-378-46326A>G	NM_001385809.1:c.-378-46326A>C
RBFOX3 transcript variant 10	NM_001385810.1:c.-174-46326=	NM_001385810.1:c.-174-46326A>T	NM_001385810.1:c.-174-46326A>G	NM_001385810.1:c.-174-46326A>C
RBFOX3 transcript variant 11	NM_001385811.1:c.-174-46326=	NM_001385811.1:c.-174-46326A>T	NM_001385811.1:c.-174-46326A>G	NM_001385811.1:c.-174-46326A>C
RBFOX3 transcript variant 12	NM_001385812.1:c.-134-46326=	NM_001385812.1:c.-134-46326A>T	NM_001385812.1:c.-134-46326A>G	NM_001385812.1:c.-134-46326A>C
RBFOX3 transcript variant 13	NM_001385813.1:c.-363-46326=	NM_001385813.1:c.-363-46326A>T	NM_001385813.1:c.-363-46326A>G	NM_001385813.1:c.-363-46326A>C
RBFOX3 transcript variant 14	NM_001385814.1:c.-134-46326=	NM_001385814.1:c.-134-46326A>T	NM_001385814.1:c.-134-46326A>G	NM_001385814.1:c.-134-46326A>C
RBFOX3 transcript variant 15	NM_001385815.1:c.-174-46326=	NM_001385815.1:c.-174-46326A>T	NM_001385815.1:c.-174-46326A>G	NM_001385815.1:c.-174-46326A>C
RBFOX3 transcript variant 16	NM_001385816.1:c.-174-46326=	NM_001385816.1:c.-174-46326A>T	NM_001385816.1:c.-174-46326A>G	NM_001385816.1:c.-174-46326A>C
RBFOX3 transcript variant 17	NM_001385817.1:c.-174-46326=	NM_001385817.1:c.-174-46326A>T	NM_001385817.1:c.-174-46326A>G	NM_001385817.1:c.-174-46326A>C
RBFOX3 transcript variant 18	NM_001385818.1:c.-245-46326=	NM_001385818.1:c.-245-46326A>T	NM_001385818.1:c.-245-46326A>G	NM_001385818.1:c.-245-46326A>C
RBFOX3 transcript variant 19	NM_001385819.1:c.-174-46326=	NM_001385819.1:c.-174-46326A>T	NM_001385819.1:c.-174-46326A>G	NM_001385819.1:c.-174-46326A>C
RBFOX3 transcript variant 20	NM_001385820.1:c.-309-46326=	NM_001385820.1:c.-309-46326A>T	NM_001385820.1:c.-309-46326A>G	NM_001385820.1:c.-309-46326A>C
RBFOX3 transcript variant 21	NM_001385821.1:c.-410-41551=	NM_001385821.1:c.-410-41551A>T	NM_001385821.1:c.-410-41551A>G	NM_001385821.1:c.-410-41551A>C
RBFOX3 transcript variant 22	NM_001385822.1:c.-174-46326=	NM_001385822.1:c.-174-46326A>T	NM_001385822.1:c.-174-46326A>G	NM_001385822.1:c.-174-46326A>C
RBFOX3 transcript variant 23	NM_001385823.1:c.-174-46326=	NM_001385823.1:c.-174-46326A>T	NM_001385823.1:c.-174-46326A>G	NM_001385823.1:c.-174-46326A>C
RBFOX3 transcript variant 24	NM_001385824.1:c.-174-46326=	NM_001385824.1:c.-174-46326A>T	NM_001385824.1:c.-174-46326A>G	NM_001385824.1:c.-174-46326A>C
RBFOX3 transcript variant 25	NM_001385825.1:c.-174-46326=	NM_001385825.1:c.-174-46326A>T	NM_001385825.1:c.-174-46326A>G	NM_001385825.1:c.-174-46326A>C
RBFOX3 transcript variant 26	NM_001385826.1:c.-174-46326=	NM_001385826.1:c.-174-46326A>T	NM_001385826.1:c.-174-46326A>G	NM_001385826.1:c.-174-46326A>C
RBFOX3 transcript variant 27	NM_001385827.1:c.-174-46326=	NM_001385827.1:c.-174-46326A>T	NM_001385827.1:c.-174-46326A>G	NM_001385827.1:c.-174-46326A>C
RBFOX3 transcript variant 28	NM_001385828.1:c.-174-46326=	NM_001385828.1:c.-174-46326A>T	NM_001385828.1:c.-174-46326A>G	NM_001385828.1:c.-174-46326A>C
RBFOX3 transcript variant 29	NM_001385829.1:c.-174-46326=	NM_001385829.1:c.-174-46326A>T	NM_001385829.1:c.-174-46326A>G	NM_001385829.1:c.-174-46326A>C
RBFOX3 transcript variant 30	NM_001385830.1:c.-174-46326=	NM_001385830.1:c.-174-46326A>T	NM_001385830.1:c.-174-46326A>G	NM_001385830.1:c.-174-46326A>C
RBFOX3 transcript variant 31	NM_001385831.1:c.-174-46326=	NM_001385831.1:c.-174-46326A>T	NM_001385831.1:c.-174-46326A>G	NM_001385831.1:c.-174-46326A>C
RBFOX3 transcript variant 32	NM_001385832.1:c.-174-46326=	NM_001385832.1:c.-174-46326A>T	NM_001385832.1:c.-174-46326A>G	NM_001385832.1:c.-174-46326A>C
RBFOX3 transcript variant 33	NM_001385833.1:c.-174-46326=	NM_001385833.1:c.-174-46326A>T	NM_001385833.1:c.-174-46326A>G	NM_001385833.1:c.-174-46326A>C
RBFOX3 transcript variant 34	NM_001385834.1:c.-664-46326=	NM_001385834.1:c.-664-46326A>T	NM_001385834.1:c.-664-46326A>G	NM_001385834.1:c.-664-46326A>C
RBFOX3 transcript variant 35	NM_001385835.1:c.-174-46326=	NM_001385835.1:c.-174-46326A>T	NM_001385835.1:c.-174-46326A>G	NM_001385835.1:c.-174-46326A>C
RBFOX3 transcript variant 36	NM_001385836.1:c.-174-46326=	NM_001385836.1:c.-174-46326A>T	NM_001385836.1:c.-174-46326A>G	NM_001385836.1:c.-174-46326A>C
RBFOX3 transcript variant 37	NM_001385837.1:c.-174-46326=	NM_001385837.1:c.-174-46326A>T	NM_001385837.1:c.-174-46326A>G	NM_001385837.1:c.-174-46326A>C
RBFOX3 transcript variant 38	NM_001385838.1:c.-174-46326=	NM_001385838.1:c.-174-46326A>T	NM_001385838.1:c.-174-46326A>G	NM_001385838.1:c.-174-46326A>C
RBFOX3 transcript variant 39	NM_001385839.1:c.-363-46326=	NM_001385839.1:c.-363-46326A>T	NM_001385839.1:c.-363-46326A>G	NM_001385839.1:c.-363-46326A>C
RBFOX3 transcript variant 40	NM_001385840.1:c.-174-46326=	NM_001385840.1:c.-174-46326A>T	NM_001385840.1:c.-174-46326A>G	NM_001385840.1:c.-174-46326A>C
RBFOX3 transcript variant 41	NM_001385841.1:c.-174-46326=	NM_001385841.1:c.-174-46326A>T	NM_001385841.1:c.-174-46326A>G	NM_001385841.1:c.-174-46326A>C
RBFOX3 transcript variant 42	NM_001385842.1:c.-174-46326=	NM_001385842.1:c.-174-46326A>T	NM_001385842.1:c.-174-46326A>G	NM_001385842.1:c.-174-46326A>C
RBFOX3 transcript variant 43	NM_001385843.1:c.-174-46326=	NM_001385843.1:c.-174-46326A>T	NM_001385843.1:c.-174-46326A>G	NM_001385843.1:c.-174-46326A>C
RBFOX3 transcript variant 44	NM_001385844.1:c.-134-46326=	NM_001385844.1:c.-134-46326A>T	NM_001385844.1:c.-134-46326A>G	NM_001385844.1:c.-134-46326A>C
RBFOX3 transcript variant 45	NM_001385845.1:c.-271-46326=	NM_001385845.1:c.-271-46326A>T	NM_001385845.1:c.-271-46326A>G	NM_001385845.1:c.-271-46326A>C
RBFOX3 transcript variant 46	NM_001385846.1:c.-174-46326=	NM_001385846.1:c.-174-46326A>T	NM_001385846.1:c.-174-46326A>G	NM_001385846.1:c.-174-46326A>C
RBFOX3 transcript variant 47	NM_001385847.1:c.-174-46326=	NM_001385847.1:c.-174-46326A>T	NM_001385847.1:c.-174-46326A>G	NM_001385847.1:c.-174-46326A>C
RBFOX3 transcript variant X1	XM_005257068.1:c.-174-46326=	XM_005257068.1:c.-174-46326A>T	XM_005257068.1:c.-174-46326A>G	XM_005257068.1:c.-174-46326A>C
RBFOX3 transcript variant X5	XM_011524360.2:c.-363-46326=	XM_011524360.2:c.-363-46326A>T	XM_011524360.2:c.-363-46326A>G	XM_011524360.2:c.-363-46326A>C
RBFOX3 transcript variant X8	XM_011524366.3:c.-174-46326=	XM_011524366.3:c.-174-46326A>T	XM_011524366.3:c.-174-46326A>G	XM_011524366.3:c.-174-46326A>C
RBFOX3 transcript variant X9	XM_011524367.3:c.-174-46326=	XM_011524367.3:c.-174-46326A>T	XM_011524367.3:c.-174-46326A>G	XM_011524367.3:c.-174-46326A>C
RBFOX3 transcript variant X6	XM_017024208.2:c.-134-46326=	XM_017024208.2:c.-134-46326A>T	XM_017024208.2:c.-134-46326A>G	XM_017024208.2:c.-134-46326A>C
RBFOX3 transcript variant X7	XM_017024209.2:c.-174-46326=	XM_017024209.2:c.-174-46326A>T	XM_017024209.2:c.-174-46326A>G	XM_017024209.2:c.-174-46326A>C
RBFOX3 transcript variant X10	XM_017024211.3:c.-174-46326=	XM_017024211.3:c.-174-46326A>T	XM_017024211.3:c.-174-46326A>G	XM_017024211.3:c.-174-46326A>C
RBFOX3 transcript variant X4	XM_024450592.2:c.-174-46326=	XM_024450592.2:c.-174-46326A>T	XM_024450592.2:c.-174-46326A>G	XM_024450592.2:c.-174-46326A>C
RBFOX3 transcript variant X1	XM_024450593.2:c.-174-46326=	XM_024450593.2:c.-174-46326A>T	XM_024450593.2:c.-174-46326A>G	XM_024450593.2:c.-174-46326A>C
RBFOX3 transcript variant X3	XM_024450595.2:c.-174-46326=	XM_024450595.2:c.-174-46326A>T	XM_024450595.2:c.-174-46326A>G	XM_024450595.2:c.-174-46326A>C
RBFOX3 transcript variant X2	XM_024450596.2:c.-174-46326=	XM_024450596.2:c.-174-46326A>T	XM_024450596.2:c.-174-46326A>G	XM_024450596.2:c.-174-46326A>C
RBFOX3 transcript variant X11	XM_047435405.1:c.-134-46326=	XM_047435405.1:c.-134-46326A>T	XM_047435405.1:c.-134-46326A>G	XM_047435405.1:c.-134-46326A>C

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#.

92 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2384367	Oct 23, 2000 (88)
2	BCM_SSAHASNP	ss10861136	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss16758967	Feb 27, 2004 (120)
4	PERLEGEN	ss24589878	Sep 20, 2004 (123)
5	ABI	ss40763446	Mar 15, 2006 (126)
6	PERLEGEN	ss69203664	May 17, 2007 (127)
7	HGSV	ss78015485	Dec 07, 2007 (129)
8	HGSV	ss84075117	Dec 15, 2007 (130)
9	HGSV	ss84075197	Dec 15, 2007 (130)
10	BCMHGSC_JDW	ss90672402	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss96613999	Feb 05, 2009 (130)
12	BGI	ss103365520	Dec 01, 2009 (131)
13	1000GENOMES	ss109962406	Jan 24, 2009 (130)
14	1000GENOMES	ss113889161	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss118140405	Feb 14, 2009 (130)
16	ENSEMBL	ss136499350	Dec 01, 2009 (131)
17	ENSEMBL	ss137202538	Dec 01, 2009 (131)
18	GMI	ss154689263	Dec 01, 2009 (131)
19	ILLUMINA	ss160369686	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168552032	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss170334101	Jul 04, 2010 (132)
22	BUSHMAN	ss202830258	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207900335	Jul 04, 2010 (132)
24	1000GENOMES	ss227676501	Jul 14, 2010 (132)
25	1000GENOMES	ss237335784	Jul 15, 2010 (132)
26	1000GENOMES	ss243612729	Jul 15, 2010 (132)
27	BL	ss255810792	May 09, 2011 (134)
28	GMI	ss282856203	May 04, 2012 (137)
29	GMI	ss287221695	Apr 25, 2013 (138)
30	ILLUMINA	ss480696168	Sep 08, 2015 (146)
31	ILLUMINA	ss483680771	May 04, 2012 (137)
32	ILLUMINA	ss484011096	May 04, 2012 (137)
33	ILLUMINA	ss536203854	Sep 08, 2015 (146)
34	TISHKOFF	ss565430260	Apr 25, 2013 (138)
35	SSMP	ss661245392	Apr 25, 2013 (138)
36	ILLUMINA	ss780492606	Sep 08, 2015 (146)
37	ILLUMINA	ss782450002	Sep 08, 2015 (146)
38	ILLUMINA	ss835983377	Sep 08, 2015 (146)
39	EVA-GONL	ss993371006	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1081242347	Aug 21, 2014 (142)
41	1000GENOMES	ss1359683482	Aug 21, 2014 (142)
42	DDI	ss1428108050	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1578259761	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1636178811	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1679172844	Apr 01, 2015 (144)
46	EVA_DECODE	ss1697423201	Apr 01, 2015 (144)
47	HAMMER_LAB	ss1808897064	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1936836384	Feb 12, 2016 (147)
49	GENOMED	ss1968442774	Jul 19, 2016 (147)
50	JJLAB	ss2029190051	Sep 14, 2016 (149)
51	USC_VALOUEV	ss2157678693	Dec 20, 2016 (150)
52	HUMAN_LONGEVITY	ss2218913043	Dec 20, 2016 (150)
53	SYSTEMSBIOZJU	ss2629090816	Nov 08, 2017 (151)
54	ILLUMINA	ss2633430542	Nov 08, 2017 (151)
55	GRF	ss2702245436	Nov 08, 2017 (151)
56	GNOMAD	ss2952857669	Nov 08, 2017 (151)
57	SWEGEN	ss3015963724	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3028418306	Nov 08, 2017 (151)
59	CSHL	ss3351857628	Nov 08, 2017 (151)
60	ILLUMINA	ss3627732665	Oct 12, 2018 (152)
61	ILLUMINA	ss3631409563	Oct 12, 2018 (152)
62	ILLUMINA	ss3636378496	Oct 12, 2018 (152)
63	ILLUMINA	ss3642008426	Oct 12, 2018 (152)
64	URBANLAB	ss3650709638	Oct 12, 2018 (152)
65	EGCUT_WGS	ss3682827391	Jul 13, 2019 (153)
66	EVA_DECODE	ss3700987650	Jul 13, 2019 (153)
67	ACPOP	ss3742248687	Jul 13, 2019 (153)
68	EVA	ss3754978763	Jul 13, 2019 (153)
69	PACBIO	ss3788278239	Jul 13, 2019 (153)
70	PACBIO	ss3793222288	Jul 13, 2019 (153)
71	PACBIO	ss3798108332	Jul 13, 2019 (153)
72	KHV_HUMAN_GENOMES	ss3820242056	Jul 13, 2019 (153)
73	EVA	ss3834997212	Apr 27, 2020 (154)
74	EVA	ss3841111035	Apr 27, 2020 (154)
75	EVA	ss3846609518	Apr 27, 2020 (154)
76	SGDP_PRJ	ss3886293040	Apr 27, 2020 (154)
77	KRGDB	ss3936077388	Apr 27, 2020 (154)
78	KOGIC	ss3979369254	Apr 27, 2020 (154)
79	TOPMED	ss5044971784	Apr 26, 2021 (155)
80	TOMMO_GENOMICS	ss5223643441	Apr 26, 2021 (155)
81	1000G_HIGH_COVERAGE	ss5304061662	Oct 16, 2022 (156)
82	EVA	ss5315906505	Oct 16, 2022 (156)
83	EVA	ss5429258183	Oct 16, 2022 (156)
84	HUGCELL_USP	ss5497014513	Oct 16, 2022 (156)
85	1000G_HIGH_COVERAGE	ss5608215378	Oct 16, 2022 (156)
86	SANFORD_IMAGENETICS	ss5660613805	Oct 16, 2022 (156)
87	TOMMO_GENOMICS	ss5780240824	Oct 16, 2022 (156)
88	YY_MCH	ss5816760562	Oct 16, 2022 (156)
89	EVA	ss5834339523	Oct 16, 2022 (156)
90	EVA	ss5851912351	Oct 16, 2022 (156)
91	EVA	ss5914968593	Oct 16, 2022 (156)
92	EVA	ss5952017555	Oct 16, 2022 (156)
93	1000Genomes	NC_000017.10 - 77350232	Oct 12, 2018 (152)
94	1000Genomes_30x	NC_000017.11 - 79354150	Oct 16, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 77350232	Oct 12, 2018 (152)
96	Genetic variation in the Estonian population	NC_000017.10 - 77350232	Oct 12, 2018 (152)
97	The Danish reference pan genome	NC_000017.10 - 77350232	Apr 27, 2020 (154)
98	gnomAD - Genomes	NC_000017.11 - 79354150	Apr 26, 2021 (155)
99	Genome of the Netherlands Release 5	NC_000017.10 - 77350232	Apr 27, 2020 (154)
100	HapMap	NC_000017.11 - 79354150	Apr 27, 2020 (154)
101	KOREAN population from KRGDB	NC_000017.10 - 77350232	Apr 27, 2020 (154)
102	Korean Genome Project	NC_000017.11 - 79354150	Apr 27, 2020 (154)
103	Northern Sweden	NC_000017.10 - 77350232	Jul 13, 2019 (153)
104	Qatari	NC_000017.10 - 77350232	Apr 27, 2020 (154)
105	SGDP_PRJ	NC_000017.10 - 77350232	Apr 27, 2020 (154)
106	Siberian	NC_000017.10 - 77350232	Apr 27, 2020 (154)
107	8.3KJPN	NC_000017.10 - 77350232	Apr 26, 2021 (155)
108	14KJPN	NC_000017.11 - 79354150	Oct 16, 2022 (156)
109	TopMed	NC_000017.11 - 79354150	Apr 26, 2021 (155)
110	UK 10K study - Twins	NC_000017.10 - 77350232	Oct 12, 2018 (152)
111	ALFA	NC_000017.11 - 79354150	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)
rs17744875	Oct 08, 2004 (123)
rs59915555	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43254782, ss3936077388	NC_000017.10:77350231:T:A	NC_000017.11:79354149:T:A	(self)
ss78015485, ss84075117, ss84075197, ss90672402, ss109962406, ss113889161, ss118140405, ss160369686, ss168552032, ss170334101, ss202830258, ss207900335, ss255810792, ss282856203, ss287221695, ss483680771, ss1697423201	NC_000017.9:74861826:T:C	NC_000017.11:79354149:T:C	(self)
72965049, 40432895, 28565639, 4457775, 18011671, 43254782, 15533552, 18878306, 38310020, 10195047, 81612748, 40432895, ss227676501, ss237335784, ss243612729, ss480696168, ss484011096, ss536203854, ss565430260, ss661245392, ss780492606, ss782450002, ss835983377, ss993371006, ss1081242347, ss1359683482, ss1428108050, ss1578259761, ss1636178811, ss1679172844, ss1808897064, ss1936836384, ss1968442774, ss2029190051, ss2157678693, ss2629090816, ss2633430542, ss2702245436, ss2952857669, ss3015963724, ss3351857628, ss3627732665, ss3631409563, ss3636378496, ss3642008426, ss3682827391, ss3742248687, ss3754978763, ss3788278239, ss3793222288, ss3798108332, ss3834997212, ss3841111035, ss3886293040, ss3936077388, ss5223643441, ss5315906505, ss5429258183, ss5660613805, ss5834339523, ss5952017555	NC_000017.10:77350231:T:C	NC_000017.11:79354149:T:C	(self)
95741313, 514846976, 1533119, 35747255, 114077928, 260517446, 6366713361, ss2218913043, ss3028418306, ss3650709638, ss3700987650, ss3820242056, ss3846609518, ss3979369254, ss5044971784, ss5304061662, ss5497014513, ss5608215378, ss5780240824, ss5816760562, ss5851912351, ss5914968593	NC_000017.11:79354149:T:C	NC_000017.11:79354149:T:C	(self)
ss10861136	NT_010641.13:11238948:T:C	NC_000017.11:79354149:T:C	(self)
ss16758967	NT_010641.14:11242388:T:C	NC_000017.11:79354149:T:C	(self)
ss2384367, ss24589878, ss40763446, ss69203664, ss96613999, ss103365520, ss136499350, ss137202538, ss154689263	NT_010783.15:42624383:T:C	NC_000017.11:79354149:T:C	(self)
43254782, ss3936077388	NC_000017.10:77350231:T:G	NC_000017.11:79354149:T:G	(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 rs1542396

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1542396