Name: rs2735393
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.

rs2735393

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:31184784 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.240957 (63779/264690, TOPMED)
C=0.248976 (34877/140082, GnomAD)
C=0.27877 (13141/47140, ALFA) (+ 16 more)
C=0.16732 (4728/28258, 14KJPN)
C=0.16963 (2843/16760, 8.3KJPN)
C=0.2831 (1813/6404, 1000G_30x)
C=0.2855 (1430/5008, 1000G)
C=0.3422 (1533/4480, Estonian)
C=0.3262 (1257/3854, ALSPAC)
C=0.3109 (1153/3708, TWINSUK)
C=0.1939 (568/2930, KOREAN)
C=0.2125 (402/1892, HapMap)
C=0.317 (316/998, GoNL)
C=0.342 (205/600, NorthernSweden)
C=0.296 (158/534, MGP)
T=0.366 (93/254, SGDP_PRJ)
C=0.194 (42/216, Qatari)
C=0.25 (10/40, GENOME_DK)
T=0.42 (10/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FUS : 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	47140	T=0.72123	C=0.27877
European	Sub	37608	T=0.70137	C=0.29863
African	Sub	4114	T=0.9110	C=0.0890
African Others	Sub	148	T=0.946	C=0.054
African American	Sub	3966	T=0.9097	C=0.0903
Asian	Sub	124	T=0.774	C=0.226
East Asian	Sub	96	T=0.79	C=0.21
Other Asian	Sub	28	T=0.71	C=0.29
Latin American 1	Sub	168	T=0.756	C=0.244
Latin American 2	Sub	670	T=0.630	C=0.370
South Asian	Sub	98	T=0.47	C=0.53
Other	Sub	4358	T=0.7304	C=0.2696

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=0.759043	C=0.240957
gnomAD - Genomes	Global	Study-wide	140082	T=0.751024	C=0.248976
gnomAD - Genomes	European	Sub	75846	T=0.67740	C=0.32260
gnomAD - Genomes	African	Sub	42006	T=0.90768	C=0.09232
gnomAD - Genomes	American	Sub	13638	T=0.66762	C=0.33238
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.8067	C=0.1933
gnomAD - Genomes	East Asian	Sub	3120	T=0.7404	C=0.2596
gnomAD - Genomes	Other	Sub	2150	T=0.7460	C=0.2540
Allele Frequency Aggregator	Total	Global	47140	T=0.72123	C=0.27877
Allele Frequency Aggregator	European	Sub	37608	T=0.70137	C=0.29863
Allele Frequency Aggregator	Other	Sub	4358	T=0.7304	C=0.2696
Allele Frequency Aggregator	African	Sub	4114	T=0.9110	C=0.0890
Allele Frequency Aggregator	Latin American 2	Sub	670	T=0.630	C=0.370
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.756	C=0.244
Allele Frequency Aggregator	Asian	Sub	124	T=0.774	C=0.226
Allele Frequency Aggregator	South Asian	Sub	98	T=0.47	C=0.53
14KJPN	JAPANESE	Study-wide	28258	T=0.83268	C=0.16732
8.3KJPN	JAPANESE	Study-wide	16760	T=0.83037	C=0.16963
1000Genomes_30x	Global	Study-wide	6404	T=0.7169	C=0.2831
1000Genomes_30x	African	Sub	1786	T=0.9546	C=0.0454
1000Genomes_30x	Europe	Sub	1266	T=0.6817	C=0.3183
1000Genomes_30x	South Asian	Sub	1202	T=0.4276	C=0.5724
1000Genomes_30x	East Asian	Sub	1170	T=0.7504	C=0.2496
1000Genomes_30x	American	Sub	980	T=0.644	C=0.356
1000Genomes	Global	Study-wide	5008	T=0.7145	C=0.2855
1000Genomes	African	Sub	1322	T=0.9523	C=0.0477
1000Genomes	East Asian	Sub	1008	T=0.7470	C=0.2530
1000Genomes	Europe	Sub	1006	T=0.6918	C=0.3082
1000Genomes	South Asian	Sub	978	T=0.437	C=0.563
1000Genomes	American	Sub	694	T=0.638	C=0.362
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6578	C=0.3422
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6738	C=0.3262
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6891	C=0.3109
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8061	C=0.1939
HapMap	Global	Study-wide	1892	T=0.7875	C=0.2125
HapMap	American	Sub	770	T=0.656	C=0.344
HapMap	African	Sub	692	T=0.951	C=0.049
HapMap	Asian	Sub	254	T=0.780	C=0.220
HapMap	Europe	Sub	176	T=0.733	C=0.267
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.683	C=0.317
Northern Sweden	ACPOP	Study-wide	600	T=0.658	C=0.342
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.704	C=0.296
SGDP_PRJ	Global	Study-wide	254	T=0.366	C=0.634
Qatari	Global	Study-wide	216	T=0.806	C=0.194
The Danish reference pan genome	Danish	Study-wide	40	T=0.75	C=0.25
Siberian	Global	Study-wide	24	T=0.42	C=0.58

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 16	NC_000016.10:g.31184784T>C
GRCh37.p13 chr 16	NC_000016.9:g.31196105T>C
FUS RefSeqGene (LRG_655)	NG_012889.2:g.9653T>C

Gene: FUS, FUS RNA binding protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FUS transcript variant 3	NM_001170634.1:c.521-155T… NM_001170634.1:c.521-155T>C	N/A	Intron Variant
FUS transcript variant 4	NM_001170937.1:c.512-155T… NM_001170937.1:c.512-155T>C	N/A	Intron Variant
FUS transcript variant 1	NM_004960.4:c.524-155T>C	N/A	Intron Variant
FUS transcript variant 2	NR_028388.2:n.	N/A	Intron Variant
FUS transcript variant X1	XM_011545781.2:c.518-155T… XM_011545781.2:c.518-155T>C	N/A	Intron Variant
FUS transcript variant X3	XM_011545782.3:c.-57-155T… XM_011545782.3:c.-57-155T>C	N/A	Intron Variant
FUS transcript variant X2	XM_024450221.2:c.515-155T… XM_024450221.2:c.515-155T>C	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.

Allele: C (allele ID: 1283080 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001717477.1	not provided	Benign

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=	C
GRCh38.p14 chr 16	NC_000016.10:g.31184784=	NC_000016.10:g.31184784T>C
GRCh37.p13 chr 16	NC_000016.9:g.31196105=	NC_000016.9:g.31196105T>C
FUS RefSeqGene (LRG_655)	NG_012889.2:g.9653=	NG_012889.2:g.9653T>C
FUS transcript variant 3	NM_001170634.1:c.521-155=	NM_001170634.1:c.521-155T>C
FUS transcript variant 4	NM_001170937.1:c.512-155=	NM_001170937.1:c.512-155T>C
FUS transcript variant 1	NM_004960.3:c.524-155=	NM_004960.3:c.524-155T>C
FUS transcript variant 1	NM_004960.4:c.524-155=	NM_004960.4:c.524-155T>C
FUS transcript variant X1	XM_005255231.1:c.518-155=	XM_005255231.1:c.518-155T>C
FUS transcript variant X2	XM_005255232.1:c.-57-155=	XM_005255232.1:c.-57-155T>C
FUS transcript variant X3	XM_005255233.1:c.-57-155=	XM_005255233.1:c.-57-155T>C
FUS transcript variant X1	XM_011545781.2:c.518-155=	XM_011545781.2:c.518-155T>C
FUS transcript variant X3	XM_011545782.3:c.-57-155=	XM_011545782.3:c.-57-155T>C
FUS transcript variant X2	XM_024450221.2:c.515-155=	XM_024450221.2:c.515-155T>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#.

73 SubSNP, 19 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3861495	Sep 28, 2001 (100)
2	SC_SNP	ss18305630	Feb 28, 2004 (123)
3	PERLEGEN	ss24195951	Sep 20, 2004 (123)
4	ILLUMINA	ss74976662	Dec 07, 2007 (129)
5	HGSV	ss78153124	Dec 07, 2007 (129)
6	BCMHGSC_JDW	ss90365652	Mar 24, 2008 (129)
7	BGI	ss103290763	Feb 23, 2009 (131)
8	1000GENOMES	ss109298866	Jan 23, 2009 (130)
9	KRIBB_YJKIM	ss119444204	Dec 01, 2009 (131)
10	ENSEMBL	ss136659626	Dec 01, 2009 (131)
11	GMI	ss157249329	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss168118650	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss171172777	Jul 04, 2010 (132)
14	ILLUMINA	ss173448001	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207515604	Jul 04, 2010 (132)
16	1000GENOMES	ss237005004	Jul 15, 2010 (132)
17	1000GENOMES	ss243349017	Jul 15, 2010 (132)
18	GMI	ss282493754	May 04, 2012 (137)
19	PJP	ss291944830	May 09, 2011 (134)
20	ILLUMINA	ss537121887	Sep 08, 2015 (146)
21	SSMP	ss660625600	Apr 25, 2013 (138)
22	EVA-GONL	ss992433049	Aug 21, 2014 (142)
23	1000GENOMES	ss1355979743	Aug 21, 2014 (142)
24	EVA_GENOME_DK	ss1577894996	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1634305875	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1677299908	Apr 01, 2015 (144)
27	EVA_MGP	ss1711425638	Apr 01, 2015 (144)
28	EVA_SVP	ss1713536059	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1935857956	Feb 12, 2016 (147)
30	GENOMED	ss1968251044	Jul 19, 2016 (147)
31	JJLAB	ss2028715947	Sep 14, 2016 (149)
32	ILLUMINA	ss2094890157	Dec 20, 2016 (150)
33	ILLUMINA	ss2095066159	Dec 20, 2016 (150)
34	USC_VALOUEV	ss2157130245	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2211743525	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2628850478	Nov 08, 2017 (151)
37	ILLUMINA	ss2633311873	Nov 08, 2017 (151)
38	GRF	ss2701637792	Nov 08, 2017 (151)
39	GNOMAD	ss2942127355	Nov 08, 2017 (151)
40	SWEGEN	ss3014336247	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3028180832	Nov 08, 2017 (151)
42	CSHL	ss3351408653	Nov 08, 2017 (151)
43	ILLUMINA	ss3627511203	Oct 12, 2018 (152)
44	ILLUMINA	ss3638122266	Oct 12, 2018 (152)
45	ILLUMINA	ss3641070990	Oct 12, 2018 (152)
46	ILLUMINA	ss3641366473	Oct 12, 2018 (152)
47	ILLUMINA	ss3643103582	Oct 12, 2018 (152)
48	ILLUMINA	ss3652107824	Oct 12, 2018 (152)
49	EGCUT_WGS	ss3681409847	Jul 13, 2019 (153)
50	EVA_DECODE	ss3699139669	Jul 13, 2019 (153)
51	ACPOP	ss3741466225	Jul 13, 2019 (153)
52	ILLUMINA	ss3744431433	Jul 13, 2019 (153)
53	EVA	ss3753864336	Jul 13, 2019 (153)
54	KHV_HUMAN_GENOMES	ss3819157323	Jul 13, 2019 (153)
55	EVA	ss3834547164	Apr 27, 2020 (154)
56	EVA	ss3840881160	Apr 27, 2020 (154)
57	EVA	ss3846372186	Apr 27, 2020 (154)
58	SGDP_PRJ	ss3884288807	Apr 27, 2020 (154)
59	KRGDB	ss3933648223	Apr 27, 2020 (154)
60	EVA	ss4017733548	Apr 27, 2021 (155)
61	TOPMED	ss5012887928	Apr 27, 2021 (155)
62	TOMMO_GENOMICS	ss5219201211	Apr 27, 2021 (155)
63	1000G_HIGH_COVERAGE	ss5300691925	Oct 16, 2022 (156)
64	EVA	ss5423281220	Oct 16, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5603182541	Oct 16, 2022 (156)
66	SANFORD_IMAGENETICS	ss5658770693	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5773912924	Oct 16, 2022 (156)
68	EVA	ss5800200478	Oct 16, 2022 (156)
69	YY_MCH	ss5815895253	Oct 16, 2022 (156)
70	EVA	ss5846314888	Oct 16, 2022 (156)
71	EVA	ss5851549631	Oct 16, 2022 (156)
72	EVA	ss5898851901	Oct 16, 2022 (156)
73	EVA	ss5950184857	Oct 16, 2022 (156)
74	1000Genomes	NC_000016.9 - 31196105	Oct 12, 2018 (152)
75	1000Genomes_30x	NC_000016.10 - 31184784	Oct 16, 2022 (156)
76	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 31196105	Oct 12, 2018 (152)
77	Genetic variation in the Estonian population	NC_000016.9 - 31196105	Oct 12, 2018 (152)
78	The Danish reference pan genome	NC_000016.9 - 31196105	Apr 27, 2020 (154)
79	gnomAD - Genomes	NC_000016.10 - 31184784	Apr 27, 2021 (155)
80	Genome of the Netherlands Release 5	NC_000016.9 - 31196105	Apr 27, 2020 (154)
81	HapMap	NC_000016.10 - 31184784	Apr 27, 2020 (154)
82	KOREAN population from KRGDB	NC_000016.9 - 31196105	Apr 27, 2020 (154)
83	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 31196105	Apr 27, 2020 (154)
84	Northern Sweden	NC_000016.9 - 31196105	Jul 13, 2019 (153)
85	Qatari	NC_000016.9 - 31196105	Apr 27, 2020 (154)
86	SGDP_PRJ	NC_000016.9 - 31196105	Apr 27, 2020 (154)
87	Siberian	NC_000016.9 - 31196105	Apr 27, 2020 (154)
88	8.3KJPN	NC_000016.9 - 31196105	Apr 27, 2021 (155)
89	14KJPN	NC_000016.10 - 31184784	Oct 16, 2022 (156)
90	TopMed	NC_000016.10 - 31184784	Apr 27, 2021 (155)
91	UK 10K study - Twins	NC_000016.9 - 31196105	Oct 12, 2018 (152)
92	ALFA	NC_000016.10 - 31184784	Apr 27, 2021 (155)
93	ClinVar	RCV001717477.1	Oct 16, 2022 (156)

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)
rs12149407	Sep 24, 2004 (123)
rs17722447	Oct 08, 2004 (123)
rs74249969	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78153124, ss90365652, ss109298866, ss168118650, ss171172777, ss207515604, ss282493754, ss291944830, ss1713536059, ss2094890157, ss3643103582	NC_000016.8:31103605:T:C	NC_000016.10:31184783:T:C	(self)
69134800, 38371536, 27148095, 4108198, 17115381, 40825617, 541398, 14751090, 17899878, 36305787, 9646599, 77170518, 38371536, ss237005004, ss243349017, ss537121887, ss660625600, ss992433049, ss1355979743, ss1577894996, ss1634305875, ss1677299908, ss1711425638, ss1935857956, ss1968251044, ss2028715947, ss2095066159, ss2157130245, ss2628850478, ss2633311873, ss2701637792, ss2942127355, ss3014336247, ss3351408653, ss3627511203, ss3638122266, ss3641070990, ss3641366473, ss3652107824, ss3681409847, ss3741466225, ss3744431433, ss3753864336, ss3834547164, ss3840881160, ss3884288807, ss3933648223, ss4017733548, ss5219201211, ss5423281220, ss5658770693, ss5800200478, ss5846314888, ss5950184857	NC_000016.9:31196104:T:C	NC_000016.10:31184783:T:C	(self)
RCV001717477.1, 90708476, 487342389, 1374037, 107750028, 228433589, 11286101387, ss2211743525, ss3028180832, ss3699139669, ss3819157323, ss3846372186, ss5012887928, ss5300691925, ss5603182541, ss5773912924, ss5815895253, ss5851549631, ss5898851901	NC_000016.10:31184783:T:C	NC_000016.10:31184783:T:C	(self)
ss3861495, ss24195951, ss74976662, ss103290763, ss119444204, ss136659626, ss157249329, ss173448001	NT_010393.16:31136104:T:C	NC_000016.10:31184783:T:C	(self)
ss18305630	NT_024812.10:2595771:T:C	NC_000016.10:31184783:T:C	(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 rs2735393

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2735393