Name: rs17549193
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.

rs17549193

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:134887180 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.289327 (76582/264690, TOPMED)
T=0.257750 (64816/251468, GnomAD_exome)
T=0.280065 (64197/229222, ALFA) (+ 24 more)
T=0.299112 (41890/140048, GnomAD)
T=0.262333 (31842/121380, ExAC)
T=0.26852 (21132/78698, PAGE_STUDY)
T=0.06267 (1771/28258, 14KJPN)
T=0.06450 (1081/16760, 8.3KJPN)
T=0.30717 (3995/13006, GO-ESP)
T=0.2528 (1619/6404, 1000G_30x)
T=0.2488 (1246/5008, 1000G)
T=0.3105 (1391/4480, Estonian)
T=0.2680 (1033/3854, ALSPAC)
T=0.2794 (1036/3708, TWINSUK)
T=0.0519 (152/2930, KOREAN)
T=0.0393 (72/1832, Korea1K)
T=0.326 (325/998, GoNL)
T=0.052 (41/792, PRJEB37584)
T=0.098 (60/614, Vietnamese)
T=0.290 (174/600, NorthernSweden)
T=0.258 (138/534, MGP)
T=0.286 (87/304, FINRISK)
C=0.408 (89/218, SGDP_PRJ)
T=0.319 (69/216, Qatari)
T=0.28 (11/40, GENOME_DK)
C=0.50 (9/18, Siberian)
T=0.50 (9/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FCN2 : Missense Variant
Publications: 10 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	245698	C=0.718516	T=0.281484
European	Sub	198250	C=0.710421	T=0.289579
African	Sub	12958	C=0.66067	T=0.33933
African Others	Sub	454	C=0.643	T=0.357
African American	Sub	12504	C=0.66131	T=0.33869
Asian	Sub	6382	C=0.9474	T=0.0526
East Asian	Sub	4528	C=0.9516	T=0.0484
Other Asian	Sub	1854	C=0.9369	T=0.0631
Latin American 1	Sub	894	C=0.709	T=0.291
Latin American 2	Sub	5142	C=0.7863	T=0.2137
South Asian	Sub	312	C=0.708	T=0.292
Other	Sub	21760	C=0.74412	T=0.25588

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	C=0.710673	T=0.289327
gnomAD - Exomes	Global	Study-wide	251468	C=0.742250	T=0.257750
gnomAD - Exomes	European	Sub	135402	C=0.714731	T=0.285269
gnomAD - Exomes	Asian	Sub	49004	C=0.80940	T=0.19060
gnomAD - Exomes	American	Sub	34590	C=0.80069	T=0.19931
gnomAD - Exomes	African	Sub	16252	C=0.65543	T=0.34457
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=0.72778	T=0.27222
gnomAD - Exomes	Other	Sub	6140	C=0.7375	T=0.2625
Allele Frequency Aggregator	Total	Global	229222	C=0.719935	T=0.280065
Allele Frequency Aggregator	European	Sub	188062	C=0.709872	T=0.290128
Allele Frequency Aggregator	Other	Sub	20308	C=0.74700	T=0.25300
Allele Frequency Aggregator	African	Sub	8122	C=0.6662	T=0.3338
Allele Frequency Aggregator	Asian	Sub	6382	C=0.9474	T=0.0526
Allele Frequency Aggregator	Latin American 2	Sub	5142	C=0.7863	T=0.2137
Allele Frequency Aggregator	Latin American 1	Sub	894	C=0.709	T=0.291
Allele Frequency Aggregator	South Asian	Sub	312	C=0.708	T=0.292
gnomAD - Genomes	Global	Study-wide	140048	C=0.700888	T=0.299112
gnomAD - Genomes	European	Sub	75858	C=0.70566	T=0.29434
gnomAD - Genomes	African	Sub	41932	C=0.65430	T=0.34570
gnomAD - Genomes	American	Sub	13658	C=0.75443	T=0.24557
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.7166	T=0.2834
gnomAD - Genomes	East Asian	Sub	3126	C=0.9376	T=0.0624
gnomAD - Genomes	Other	Sub	2150	C=0.7326	T=0.2674
ExAC	Global	Study-wide	121380	C=0.737667	T=0.262333
ExAC	Europe	Sub	73346	C=0.71584	T=0.28416
ExAC	Asian	Sub	25158	C=0.80213	T=0.19787
ExAC	American	Sub	11576	C=0.80831	T=0.19169
ExAC	African	Sub	10392	C=0.65810	T=0.34190
ExAC	Other	Sub	908	C=0.725	T=0.275
The PAGE Study	Global	Study-wide	78698	C=0.73148	T=0.26852
The PAGE Study	AfricanAmerican	Sub	32516	C=0.65632	T=0.34368
The PAGE Study	Mexican	Sub	10808	C=0.78821	T=0.21179
The PAGE Study	Asian	Sub	8318	C=0.9386	T=0.0614
The PAGE Study	PuertoRican	Sub	7918	C=0.6908	T=0.3092
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8344	T=0.1656
The PAGE Study	Cuban	Sub	4230	C=0.7260	T=0.2740
The PAGE Study	Dominican	Sub	3826	C=0.6905	T=0.3095
The PAGE Study	CentralAmerican	Sub	2450	C=0.7722	T=0.2278
The PAGE Study	SouthAmerican	Sub	1982	C=0.7518	T=0.2482
The PAGE Study	NativeAmerican	Sub	1260	C=0.7198	T=0.2802
The PAGE Study	SouthAsian	Sub	856	C=0.752	T=0.248
14KJPN	JAPANESE	Study-wide	28258	C=0.93733	T=0.06267
8.3KJPN	JAPANESE	Study-wide	16760	C=0.93550	T=0.06450
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.69283	T=0.30717
GO Exome Sequencing Project	European American	Sub	8600	C=0.7099	T=0.2901
GO Exome Sequencing Project	African American	Sub	4406	C=0.6596	T=0.3404
1000Genomes_30x	Global	Study-wide	6404	C=0.7472	T=0.2528
1000Genomes_30x	African	Sub	1786	C=0.6355	T=0.3645
1000Genomes_30x	Europe	Sub	1266	C=0.7291	T=0.2709
1000Genomes_30x	South Asian	Sub	1202	C=0.7429	T=0.2571
1000Genomes_30x	East Asian	Sub	1170	C=0.9393	T=0.0607
1000Genomes_30x	American	Sub	980	C=0.750	T=0.250
1000Genomes	Global	Study-wide	5008	C=0.7512	T=0.2488
1000Genomes	African	Sub	1322	C=0.6354	T=0.3646
1000Genomes	East Asian	Sub	1008	C=0.9335	T=0.0665
1000Genomes	Europe	Sub	1006	C=0.7247	T=0.2753
1000Genomes	South Asian	Sub	978	C=0.747	T=0.253
1000Genomes	American	Sub	694	C=0.751	T=0.249
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6895	T=0.3105
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7320	T=0.2680
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7206	T=0.2794
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9481	T=0.0519
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9607	T=0.0393
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.674	T=0.326
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.948	T=0.052
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.948	T=0.052
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.902	T=0.098
Northern Sweden	ACPOP	Study-wide	600	C=0.710	T=0.290
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.742	T=0.258
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.714	T=0.286
SGDP_PRJ	Global	Study-wide	218	C=0.408	T=0.592
Qatari	Global	Study-wide	216	C=0.681	T=0.319
The Danish reference pan genome	Danish	Study-wide	40	C=0.72	T=0.28
Siberian	Global	Study-wide	18	C=0.50	T=0.50

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 9	NC_000009.12:g.134887180C>T
GRCh37.p13 chr 9	NC_000009.11:g.137779026C>T
FCN2 RefSeqGene	NG_011649.1:g.11369C>T

Gene: FCN2, ficolin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FCN2 transcript variant SV0	NM_004108.3:c.707C>T	T [ACG] > M [ATG]	Coding Sequence Variant
ficolin-2 isoform a precursor	NP_004099.2:p.Thr236Met	T (Thr) > M (Met)	Missense Variant
FCN2 transcript variant SV1	NM_015837.3:c.593C>T	T [ACG] > M [ATG]	Coding Sequence Variant
ficolin-2 isoform b precursor	NP_056652.1:p.Thr198Met	T (Thr) > M (Met)	Missense Variant
FCN2 transcript variant X1	XM_011518392.4:c.674C>T	T [ACG] > M [ATG]	Coding Sequence Variant
ficolin-2 isoform X1	XP_011516694.1:p.Thr225Met	T (Thr) > M (Met)	Missense Variant
FCN2 transcript variant X2	XM_006717015.5:c.560C>T	T [ACG] > M [ATG]	Coding Sequence Variant
ficolin-2 isoform X2	XP_006717078.1:p.Thr187Met	T (Thr) > M (Met)	Missense 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	C=	T
GRCh38.p14 chr 9	NC_000009.12:g.134887180=	NC_000009.12:g.134887180C>T
GRCh37.p13 chr 9	NC_000009.11:g.137779026=	NC_000009.11:g.137779026C>T
FCN2 RefSeqGene	NG_011649.1:g.11369=	NG_011649.1:g.11369C>T
FCN2 transcript variant SV0	NM_004108.3:c.707=	NM_004108.3:c.707C>T
FCN2 transcript variant SV0	NM_004108.2:c.707=	NM_004108.2:c.707C>T
FCN2 transcript variant SV1	NM_015837.3:c.593=	NM_015837.3:c.593C>T
FCN2 transcript variant SV1	NM_015837.2:c.593=	NM_015837.2:c.593C>T
FCN2 transcript variant X2	XM_006717015.5:c.560=	XM_006717015.5:c.560C>T
FCN2 transcript variant X2	XM_006717015.4:c.560=	XM_006717015.4:c.560C>T
FCN2 transcript variant X2	XM_006717015.3:c.560=	XM_006717015.3:c.560C>T
FCN2 transcript variant X2	XM_006717015.2:c.560=	XM_006717015.2:c.560C>T
FCN2 transcript variant X1	XM_006717015.1:c.560=	XM_006717015.1:c.560C>T
FCN2 transcript variant X1	XM_011518392.4:c.674=	XM_011518392.4:c.674C>T
FCN2 transcript variant X1	XM_011518392.3:c.674=	XM_011518392.3:c.674C>T
FCN2 transcript variant X1	XM_011518392.2:c.674=	XM_011518392.2:c.674C>T
FCN2 transcript variant X1	XM_011518392.1:c.674=	XM_011518392.1:c.674C>T
FCN2 transcript variant SV2	NM_015838.1:c.*558=	NM_015838.1:c.*558C>T
ficolin-2 isoform a precursor	NP_004099.2:p.Thr236=	NP_004099.2:p.Thr236Met
ficolin-2 isoform b precursor	NP_056652.1:p.Thr198=	NP_056652.1:p.Thr198Met
ficolin-2 isoform X2	XP_006717078.1:p.Thr187=	XP_006717078.1:p.Thr187Met
ficolin-2 isoform X1	XP_011516694.1:p.Thr225=	XP_011516694.1:p.Thr225Met

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#.

129 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ANTONIUSNETH	ss28476283	Sep 20, 2004 (123)
2	CPH-UNIHOSP-7631	ss32469544	May 24, 2005 (125)
3	SI_EXO	ss71644335	May 17, 2007 (127)
4	HGSV	ss78572084	Dec 07, 2007 (129)
5	HGSV	ss80387289	Dec 14, 2007 (130)
6	BCMHGSC_JDW	ss94189895	Mar 25, 2008 (129)
7	1000GENOMES	ss109128151	Jan 23, 2009 (130)
8	1000GENOMES	ss115182631	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss115814112	Feb 14, 2009 (130)
10	ENSEMBL	ss144401837	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159719576	Dec 01, 2009 (131)
12	ILLUMINA	ss161105842	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss165896016	Jul 04, 2010 (132)
14	BUSHMAN	ss200987520	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss206715154	Jul 04, 2010 (132)
16	1000GENOMES	ss224498083	Jul 14, 2010 (132)
17	1000GENOMES	ss235002423	Jul 15, 2010 (132)
18	1000GENOMES	ss241745337	Jul 15, 2010 (132)
19	BL	ss254625548	May 09, 2011 (134)
20	GMI	ss280431050	May 04, 2012 (137)
21	PJP	ss294388251	May 09, 2011 (134)
22	NHLBI-ESP	ss342288459	May 09, 2011 (134)
23	ILLUMINA	ss479395592	Sep 08, 2015 (146)
24	ILLUMINA	ss483248264	May 04, 2012 (137)
25	ILLUMINA	ss485745786	May 04, 2012 (137)
26	1000GENOMES	ss490989260	May 04, 2012 (137)
27	EXOME_CHIP	ss491430177	May 04, 2012 (137)
28	CLINSEQ_SNP	ss491946096	May 04, 2012 (137)
29	ILLUMINA	ss535466514	Sep 08, 2015 (146)
30	TISHKOFF	ss561690220	Apr 25, 2013 (138)
31	SSMP	ss656186743	Apr 25, 2013 (138)
32	ILLUMINA	ss779501804	Sep 08, 2015 (146)
33	ILLUMINA	ss780882606	Sep 08, 2015 (146)
34	ILLUMINA	ss782067619	Sep 08, 2015 (146)
35	ILLUMINA	ss783568426	Sep 08, 2015 (146)
36	ILLUMINA	ss834972047	Sep 08, 2015 (146)
37	JMKIDD_LAB	ss974473113	Aug 21, 2014 (142)
38	EVA-GONL	ss987067842	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067509075	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1076670338	Aug 21, 2014 (142)
41	1000GENOMES	ss1335794379	Aug 21, 2014 (142)
42	DDI	ss1431985354	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1583291120	Apr 01, 2015 (144)
44	EVA_FINRISK	ss1584065705	Apr 01, 2015 (144)
45	EVA_DECODE	ss1596715121	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1623742350	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1666736383	Apr 01, 2015 (144)
48	EVA_EXAC	ss1689734752	Apr 01, 2015 (144)
49	EVA_MGP	ss1711242505	Apr 01, 2015 (144)
50	ILLUMINA	ss1752765255	Sep 08, 2015 (146)
51	HAMMER_LAB	ss1806200328	Sep 08, 2015 (146)
52	ILLUMINA	ss1917842727	Feb 12, 2016 (147)
53	WEILL_CORNELL_DGM	ss1930382988	Feb 12, 2016 (147)
54	ILLUMINA	ss1946272100	Feb 12, 2016 (147)
55	ILLUMINA	ss1959226126	Feb 12, 2016 (147)
56	GENOMED	ss1971325458	Jul 19, 2016 (147)
57	JJLAB	ss2025914980	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2154151529	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2315136321	Dec 20, 2016 (150)
60	ILLUMINA	ss2634928654	Nov 08, 2017 (151)
61	GRF	ss2710036987	Nov 08, 2017 (151)
62	GNOMAD	ss2737989758	Nov 08, 2017 (151)
63	GNOMAD	ss2748305232	Nov 08, 2017 (151)
64	GNOMAD	ss2884173734	Nov 08, 2017 (151)
65	AFFY	ss2985477488	Nov 08, 2017 (151)
66	SWEGEN	ss3005732620	Nov 08, 2017 (151)
67	ILLUMINA	ss3022975661	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3026739778	Nov 08, 2017 (151)
69	CSHL	ss3348896897	Nov 08, 2017 (151)
70	ILLUMINA	ss3630377961	Oct 12, 2018 (152)
71	ILLUMINA	ss3630377962	Oct 12, 2018 (152)
72	ILLUMINA	ss3632817154	Oct 12, 2018 (152)
73	ILLUMINA	ss3635238123	Oct 12, 2018 (152)
74	ILLUMINA	ss3636986675	Oct 12, 2018 (152)
75	ILLUMINA	ss3640945412	Oct 12, 2018 (152)
76	ILLUMINA	ss3645005435	Oct 12, 2018 (152)
77	OMUKHERJEE_ADBS	ss3646400087	Oct 12, 2018 (152)
78	ILLUMINA	ss3653532280	Oct 12, 2018 (152)
79	ILLUMINA	ss3654242483	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3673269790	Jul 13, 2019 (153)
81	EVA_DECODE	ss3724928110	Jul 13, 2019 (153)
82	ILLUMINA	ss3726652257	Jul 13, 2019 (153)
83	ACPOP	ss3736949748	Jul 13, 2019 (153)
84	ILLUMINA	ss3744595650	Jul 13, 2019 (153)
85	ILLUMINA	ss3745538010	Jul 13, 2019 (153)
86	EVA	ss3769797069	Jul 13, 2019 (153)
87	PAGE_CC	ss3771532549	Jul 13, 2019 (153)
88	ILLUMINA	ss3773029764	Jul 13, 2019 (153)
89	KHV_HUMAN_GENOMES	ss3812957953	Jul 13, 2019 (153)
90	EVA	ss3824483036	Apr 26, 2020 (154)
91	EVA	ss3825766984	Apr 26, 2020 (154)
92	EVA	ss3831902883	Apr 26, 2020 (154)
93	EVA	ss3839480310	Apr 26, 2020 (154)
94	EVA	ss3844945819	Apr 26, 2020 (154)
95	SGDP_PRJ	ss3873253463	Apr 26, 2020 (154)
96	KRGDB	ss3921163164	Apr 26, 2020 (154)
97	KOGIC	ss3966948018	Apr 26, 2020 (154)
98	FSA-LAB	ss3984434502	Apr 26, 2021 (155)
99	FSA-LAB	ss3984434503	Apr 26, 2021 (155)
100	EVA	ss3984627529	Apr 26, 2021 (155)
101	EVA	ss3986468614	Apr 26, 2021 (155)
102	TOPMED	ss4838552045	Apr 26, 2021 (155)
103	TOMMO_GENOMICS	ss5195699837	Apr 26, 2021 (155)
104	EVA	ss5237053676	Apr 26, 2021 (155)
105	EVA	ss5237468825	Apr 26, 2021 (155)
106	EVA	ss5237654167	Oct 16, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5282484232	Oct 16, 2022 (156)
108	TRAN_CS_UWATERLOO	ss5314427194	Oct 16, 2022 (156)
109	EVA	ss5315440300	Oct 16, 2022 (156)
110	EVA	ss5390814238	Oct 16, 2022 (156)
111	HUGCELL_USP	ss5478317984	Oct 16, 2022 (156)
112	1000G_HIGH_COVERAGE	ss5575682665	Oct 16, 2022 (156)
113	EVA	ss5624189481	Oct 16, 2022 (156)
114	SANFORD_IMAGENETICS	ss5624732943	Oct 16, 2022 (156)
115	SANFORD_IMAGENETICS	ss5648431224	Oct 16, 2022 (156)
116	TOMMO_GENOMICS	ss5740368523	Oct 16, 2022 (156)
117	EVA	ss5800155929	Oct 16, 2022 (156)
118	YY_MCH	ss5811081218	Oct 16, 2022 (156)
119	EVA	ss5829868430	Oct 16, 2022 (156)
120	EVA	ss5847365045	Oct 16, 2022 (156)
121	EVA	ss5848223607	Oct 16, 2022 (156)
122	EVA	ss5848734952	Oct 16, 2022 (156)
123	EVA	ss5856971008	Oct 16, 2022 (156)
124	EVA	ss5918371899	Oct 16, 2022 (156)
125	EVA	ss5936543158	Oct 16, 2022 (156)
126	EVA	ss5977645665	Oct 16, 2022 (156)
127	EVA	ss5979909406	Oct 16, 2022 (156)
128	EVA	ss5980585242	Oct 16, 2022 (156)
129	EVA	ss5981257662	Oct 16, 2022 (156)
130	1000Genomes	NC_000009.11 - 137779026	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000009.12 - 134887180	Oct 16, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 137779026	Oct 12, 2018 (152)
133	Genetic variation in the Estonian population	NC_000009.11 - 137779026	Oct 12, 2018 (152)
134	ExAC	NC_000009.11 - 137779026	Oct 12, 2018 (152)
135	FINRISK	NC_000009.11 - 137779026	Apr 26, 2020 (154)
136	The Danish reference pan genome	NC_000009.11 - 137779026	Apr 26, 2020 (154)
137	gnomAD - Genomes	NC_000009.12 - 134887180	Apr 26, 2021 (155)
138	gnomAD - Exomes	NC_000009.11 - 137779026	Jul 13, 2019 (153)
139	GO Exome Sequencing Project	NC_000009.11 - 137779026	Oct 12, 2018 (152)
140	Genome of the Netherlands Release 5	NC_000009.11 - 137779026	Apr 26, 2020 (154)
141	KOREAN population from KRGDB	NC_000009.11 - 137779026	Apr 26, 2020 (154)
142	Korean Genome Project	NC_000009.12 - 134887180	Apr 26, 2020 (154)
143	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 137779026	Apr 26, 2020 (154)
144	Northern Sweden	NC_000009.11 - 137779026	Jul 13, 2019 (153)
145	The PAGE Study	NC_000009.12 - 134887180	Jul 13, 2019 (153)
146	CNV burdens in cranial meningiomas	NC_000009.11 - 137779026	Apr 26, 2021 (155)
147	Qatari	NC_000009.11 - 137779026	Apr 26, 2020 (154)
148	SGDP_PRJ	NC_000009.11 - 137779026	Apr 26, 2020 (154)
149	Siberian	NC_000009.11 - 137779026	Apr 26, 2020 (154)
150	8.3KJPN	NC_000009.11 - 137779026	Apr 26, 2021 (155)
151	14KJPN	NC_000009.12 - 134887180	Oct 16, 2022 (156)
152	TopMed	NC_000009.12 - 134887180	Apr 26, 2021 (155)
153	UK 10K study - Twins	NC_000009.11 - 137779026	Oct 12, 2018 (152)
154	A Vietnamese Genetic Variation Database	NC_000009.11 - 137779026	Jul 13, 2019 (153)
155	ALFA	NC_000009.12 - 134887180	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)
rs57863140	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78572084, ss80387289	NC_000009.9:135004970:C:T	NC_000009.12:134887179:C:T	(self)
ss94189895, ss109128151, ss115182631, ss115814112, ss165896016, ss200987520, ss206715154, ss254625548, ss280431050, ss294388251, ss485745786, ss491946096, ss1596715121	NC_000009.10:136918846:C:T	NC_000009.12:134887179:C:T	(self)
48124492, 26746310, 19008038, 9876184, 62166, 9456057, 7180608, 940771, 11928885, 28340558, 358265, 10234613, 176982, 12424918, 25270443, 6667883, 53669144, 26746310, 5936194, ss224498083, ss235002423, ss241745337, ss342288459, ss479395592, ss483248264, ss490989260, ss491430177, ss535466514, ss561690220, ss656186743, ss779501804, ss780882606, ss782067619, ss783568426, ss834972047, ss974473113, ss987067842, ss1067509075, ss1076670338, ss1335794379, ss1431985354, ss1583291120, ss1584065705, ss1623742350, ss1666736383, ss1689734752, ss1711242505, ss1752765255, ss1806200328, ss1917842727, ss1930382988, ss1946272100, ss1959226126, ss1971325458, ss2025914980, ss2154151529, ss2634928654, ss2710036987, ss2737989758, ss2748305232, ss2884173734, ss2985477488, ss3005732620, ss3022975661, ss3348896897, ss3630377961, ss3630377962, ss3632817154, ss3635238123, ss3636986675, ss3640945412, ss3645005435, ss3646400087, ss3653532280, ss3654242483, ss3673269790, ss3736949748, ss3744595650, ss3745538010, ss3769797069, ss3773029764, ss3824483036, ss3825766984, ss3831902883, ss3839480310, ss3873253463, ss3921163164, ss3984434502, ss3984434503, ss3984627529, ss3986468614, ss5195699837, ss5237468825, ss5315440300, ss5390814238, ss5624189481, ss5624732943, ss5648431224, ss5800155929, ss5829868430, ss5847365045, ss5848223607, ss5848734952, ss5936543158, ss5977645665, ss5979909406, ss5980585242, ss5981257662	NC_000009.11:137779025:C:T	NC_000009.12:134887179:C:T	(self)
63208600, 340089586, 23326019, 754018, 74205627, 675929606, 8987205982, ss2315136321, ss3026739778, ss3724928110, ss3726652257, ss3771532549, ss3812957953, ss3844945819, ss3966948018, ss4838552045, ss5237053676, ss5237654167, ss5282484232, ss5314427194, ss5478317984, ss5575682665, ss5740368523, ss5811081218, ss5856971008, ss5918371899	NC_000009.12:134887179:C:T	NC_000009.12:134887179:C:T	(self)
ss28476283, ss32469544, ss71644335, ss144401837, ss159719576, ss161105842	NT_019501.13:687832:C:T	NC_000009.12:134887179:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

10 citations for rs17549193

PMID	Title	Author	Year	Journal
17680820	Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene.	Cedzynski M et al.	2007	Clinical and experimental immunology
19220833	Exploring the role of polymorphisms in ficolin genes in respiratory tract infections in children.	Ruskamp JM et al.	2009	Clinical and experimental immunology
22140517	Ficolin-2 levels and FCN2 haplotypes influence hepatitis B infection outcome in Vietnamese patients.	Hoang TV et al.	2011	PloS one
22457818	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.	Assaf A et al.	2012	PloS one
22500076	Human L-ficolin (ficolin-2) and its clinical significance.	Kilpatrick DC et al.	2012	Journal of biomedicine & biotechnology
22848725	Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.	Vengen IT et al.	2012	PloS one
23525825	Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms.	Szala A et al.	2013	Immunogenetics
23744477	Ficolin-2 and ficolin-3 in women with malignant and benign ovarian tumours.	Szala A et al.	2013	Cancer immunology, immunotherapy
28032346	Mannose-binding lectin and l-ficolin polymorphisms in patients with community-acquired pneumonia caused by intracellular pathogens.	van Kempen G et al.	2017	Immunology
28391359	The prevalence of the variants of the L-ficolin gene (FCN2) in the arctic populations of East Siberia.	Smolnikova MV et al.	2017	Immunogenetics

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

rs17549193