Name: rs544115
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.

rs544115

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:74994651 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.247463 (65501/264690, TOPMED)
T=0.226749 (56509/249214, GnomAD_exome)
T=0.204013 (32685/160210, ALFA) (+ 23 more)
T=0.242923 (34019/140040, GnomAD)
T=0.232402 (28063/120752, ExAC)
T=0.24375 (6888/28258, 14KJPN)
T=0.24394 (4088/16758, 8.3KJPN)
T=0.23673 (2961/12508, GO-ESP)
T=0.2940 (1883/6404, 1000G_30x)
T=0.2959 (1482/5008, 1000G)
T=0.1775 (795/4480, Estonian)
T=0.1798 (693/3854, ALSPAC)
T=0.1842 (683/3708, TWINSUK)
T=0.2164 (634/2930, KOREAN)
T=0.3071 (581/1892, HapMap)
T=0.2200 (403/1832, Korea1K)
T=0.3257 (370/1136, Daghestan)
T=0.182 (182/998, GoNL)
T=0.272 (214/788, PRJEB37584)
T=0.176 (108/612, Vietnamese)
T=0.193 (116/600, NorthernSweden)
T=0.264 (141/534, MGP)
T=0.215 (105/488, SGDP_PRJ)
T=0.273 (59/216, Qatari)
T=0.23 (12/52, Siberian)
T=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NEU3 : Synonymous 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	176658	T=0.207078	C=0.792922
European	Sub	139406	T=0.192474	C=0.807526
African	Sub	14744	T=0.34631	C=0.65369
African Others	Sub	518	T=0.378	C=0.622
African American	Sub	14226	T=0.34514	C=0.65486
Asian	Sub	686	T=0.208	C=0.792
East Asian	Sub	524	T=0.208	C=0.792
Other Asian	Sub	162	T=0.210	C=0.790
Latin American 1	Sub	1102	T=0.2223	C=0.7777
Latin American 2	Sub	6326	T=0.1666	C=0.8334
South Asian	Sub	186	T=0.344	C=0.656
Other	Sub	14208	T=0.22086	C=0.77914

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=0.247463	C=0.752537
gnomAD - Exomes	Global	Study-wide	249214	T=0.226749	C=0.773251
gnomAD - Exomes	European	Sub	134514	T=0.186204	C=0.813796
gnomAD - Exomes	Asian	Sub	48572	T=0.31625	C=0.68375
gnomAD - Exomes	American	Sub	34524	T=0.16887	C=0.83113
gnomAD - Exomes	African	Sub	15484	T=0.35863	C=0.64137
gnomAD - Exomes	Ashkenazi Jewish	Sub	10066	T=0.32297	C=0.67703
gnomAD - Exomes	Other	Sub	6054	T=0.2423	C=0.7577
Allele Frequency Aggregator	Total	Global	160210	T=0.204013	C=0.795987
Allele Frequency Aggregator	European	Sub	129248	T=0.192746	C=0.807254
Allele Frequency Aggregator	Other	Sub	12756	T=0.22209	C=0.77791
Allele Frequency Aggregator	African	Sub	9906	T=0.3467	C=0.6533
Allele Frequency Aggregator	Latin American 2	Sub	6326	T=0.1666	C=0.8334
Allele Frequency Aggregator	Latin American 1	Sub	1102	T=0.2223	C=0.7777
Allele Frequency Aggregator	Asian	Sub	686	T=0.208	C=0.792
Allele Frequency Aggregator	South Asian	Sub	186	T=0.344	C=0.656
gnomAD - Genomes	Global	Study-wide	140040	T=0.242923	C=0.757077
gnomAD - Genomes	European	Sub	75898	T=0.18443	C=0.81557
gnomAD - Genomes	African	Sub	41922	T=0.35580	C=0.64420
gnomAD - Genomes	American	Sub	13632	T=0.20195	C=0.79805
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.3263	C=0.6737
gnomAD - Genomes	East Asian	Sub	3118	T=0.2332	C=0.7668
gnomAD - Genomes	Other	Sub	2148	T=0.2519	C=0.7481
ExAC	Global	Study-wide	120752	T=0.232402	C=0.767598
ExAC	Europe	Sub	73352	T=0.19389	C=0.80611
ExAC	Asian	Sub	25124	T=0.32332	C=0.67668
ExAC	American	Sub	11572	T=0.17084	C=0.82916
ExAC	African	Sub	9806	T=0.3572	C=0.6428
ExAC	Other	Sub	898	T=0.265	C=0.735
14KJPN	JAPANESE	Study-wide	28258	T=0.24375	C=0.75625
8.3KJPN	JAPANESE	Study-wide	16758	T=0.24394	C=0.75606
GO Exome Sequencing Project	Global	Study-wide	12508	T=0.23673	C=0.76327
GO Exome Sequencing Project	European American	Sub	8394	T=0.1894	C=0.8106
GO Exome Sequencing Project	African American	Sub	4114	T=0.3333	C=0.6667
1000Genomes_30x	Global	Study-wide	6404	T=0.2940	C=0.7060
1000Genomes_30x	African	Sub	1786	T=0.3847	C=0.6153
1000Genomes_30x	Europe	Sub	1266	T=0.2030	C=0.7970
1000Genomes_30x	South Asian	Sub	1202	T=0.4118	C=0.5882
1000Genomes_30x	East Asian	Sub	1170	T=0.2214	C=0.7786
1000Genomes_30x	American	Sub	980	T=0.189	C=0.811
1000Genomes	Global	Study-wide	5008	T=0.2959	C=0.7041
1000Genomes	African	Sub	1322	T=0.3850	C=0.6150
1000Genomes	East Asian	Sub	1008	T=0.2252	C=0.7748
1000Genomes	Europe	Sub	1006	T=0.1988	C=0.8012
1000Genomes	South Asian	Sub	978	T=0.418	C=0.582
1000Genomes	American	Sub	694	T=0.197	C=0.803
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1775	C=0.8225
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1798	C=0.8202
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.1842	C=0.8158
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2164	A=0.0000, C=0.7836
HapMap	Global	Study-wide	1892	T=0.3071	C=0.6929
HapMap	American	Sub	770	T=0.255	C=0.745
HapMap	African	Sub	692	T=0.421	C=0.579
HapMap	Asian	Sub	254	T=0.224	C=0.776
HapMap	Europe	Sub	176	T=0.210	C=0.790
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2200	C=0.7800
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.3257	C=0.6743
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.355	C=0.645
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.285	C=0.715
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.270	C=0.730
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.204	C=0.796
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.41	C=0.59
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.31	C=0.69
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.182	C=0.818
CNV burdens in cranial meningiomas	Global	Study-wide	788	T=0.272	C=0.728
CNV burdens in cranial meningiomas	CRM	Sub	788	T=0.272	C=0.728
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.176	C=0.824
Northern Sweden	ACPOP	Study-wide	600	T=0.193	C=0.807
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.264	C=0.736
SGDP_PRJ	Global	Study-wide	488	T=0.215	C=0.785
Qatari	Global	Study-wide	216	T=0.273	C=0.727
Siberian	Global	Study-wide	52	T=0.23	C=0.77
The Danish reference pan genome	Danish	Study-wide	40	T=0.12	C=0.88

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 11	NC_000011.10:g.74994651T>A
GRCh38.p14 chr 11	NC_000011.10:g.74994651T>C
GRCh37.p13 chr 11	NC_000011.9:g.74705696T>A
GRCh37.p13 chr 11	NC_000011.9:g.74705696T>C

Gene: NEU3, neuraminidase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NEU3 transcript variant 5	NM_001367863.1:c.94+5497T… NM_001367863.1:c.94+5497T>A	N/A	Intron Variant
NEU3 transcript variant 6	NM_001367864.1:c.94+5497T… NM_001367864.1:c.94+5497T>A	N/A	Intron Variant
NEU3 transcript variant 9	NM_001367867.2:c.	N/A	Genic Downstream Transcript Variant
NEU3 transcript variant 1	NM_006656.6:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform a	NP_006647.3:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 1	NM_006656.6:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform a	NP_006647.3:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 3	NM_001367861.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform b	NP_001354790.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 3	NM_001367861.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform b	NP_001354790.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 7	NM_001367865.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform d	NP_001354794.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 7	NM_001367865.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform d	NP_001354794.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 8	NM_001367866.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform e	NP_001354795.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 8	NM_001367866.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform e	NP_001354795.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 2	NM_001367860.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform a	NP_001354789.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 2	NM_001367860.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform a	NP_001354789.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 4	NM_001367862.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform b	NP_001354791.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant 4	NM_001367862.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform b	NP_001354791.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X2	XM_047426299.1:c.	N/A	Genic Upstream Transcript Variant
NEU3 transcript variant X3	XM_047426300.1:c.	N/A	Genic Upstream Transcript Variant
NEU3 transcript variant X4	XM_047426301.1:c.	N/A	Genic Upstream Transcript Variant
NEU3 transcript variant X7	XM_047426304.1:c.	N/A	Genic Downstream Transcript Variant
NEU3 transcript variant X1	XM_047426298.1:c.309T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform X1	XP_047282254.1:p.Ser103=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X1	XM_047426298.1:c.309T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform X1	XP_047282254.1:p.Ser103=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X5	XM_047426302.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform X4	XP_047282258.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X5	XM_047426302.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform X4	XP_047282258.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X6	XM_047426303.1:c.237T>A	S [TCT] > S [TCA]	Coding Sequence Variant
sialidase-3 isoform X4	XP_047282259.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous Variant
NEU3 transcript variant X6	XM_047426303.1:c.237T>C	S [TCT] > S [TCC]	Coding Sequence Variant
sialidase-3 isoform X4	XP_047282259.1:p.Ser79=	S (Ser) > S (Ser)	Synonymous 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
GRCh38.p14 chr 11	NC_000011.10:g.74994651=	NC_000011.10:g.74994651T>A	NC_000011.10:g.74994651T>C
GRCh37.p13 chr 11	NC_000011.9:g.74705696=	NC_000011.9:g.74705696T>A	NC_000011.9:g.74705696T>C
NEU3 transcript variant 1	NM_006656.6:c.237=	NM_006656.6:c.237T>A	NM_006656.6:c.237T>C
NEU3 transcript	NM_006656.5:c.237=	NM_006656.5:c.237T>A	NM_006656.5:c.237T>C
NEU3 transcript variant X1	XM_047426298.1:c.309=	XM_047426298.1:c.309T>A	XM_047426298.1:c.309T>C
NEU3 transcript variant 8	NM_001367866.1:c.237=	NM_001367866.1:c.237T>A	NM_001367866.1:c.237T>C
NEU3 transcript variant 2	NM_001367860.1:c.237=	NM_001367860.1:c.237T>A	NM_001367860.1:c.237T>C
NEU3 transcript variant 7	NM_001367865.1:c.237=	NM_001367865.1:c.237T>A	NM_001367865.1:c.237T>C
NEU3 transcript variant X5	XM_047426302.1:c.237=	XM_047426302.1:c.237T>A	XM_047426302.1:c.237T>C
NEU3 transcript variant X6	XM_047426303.1:c.237=	XM_047426303.1:c.237T>A	XM_047426303.1:c.237T>C
NEU3 transcript variant 4	NM_001367862.1:c.237=	NM_001367862.1:c.237T>A	NM_001367862.1:c.237T>C
NEU3 transcript variant 3	NM_001367861.1:c.237=	NM_001367861.1:c.237T>A	NM_001367861.1:c.237T>C
sialidase-3 isoform a	NP_006647.3:p.Ser79=	NP_006647.3:p.Ser79=	NP_006647.3:p.Ser79=
sialidase-3 isoform X1	XP_047282254.1:p.Ser103=	XP_047282254.1:p.Ser103=	XP_047282254.1:p.Ser103=
sialidase-3 isoform e	NP_001354795.1:p.Ser79=	NP_001354795.1:p.Ser79=	NP_001354795.1:p.Ser79=
sialidase-3 isoform a	NP_001354789.1:p.Ser79=	NP_001354789.1:p.Ser79=	NP_001354789.1:p.Ser79=
sialidase-3 isoform d	NP_001354794.1:p.Ser79=	NP_001354794.1:p.Ser79=	NP_001354794.1:p.Ser79=
sialidase-3 isoform X4	XP_047282258.1:p.Ser79=	XP_047282258.1:p.Ser79=	XP_047282258.1:p.Ser79=
sialidase-3 isoform X4	XP_047282259.1:p.Ser79=	XP_047282259.1:p.Ser79=	XP_047282259.1:p.Ser79=
sialidase-3 isoform b	NP_001354791.1:p.Ser79=	NP_001354791.1:p.Ser79=	NP_001354791.1:p.Ser79=
sialidase-3 isoform b	NP_001354790.1:p.Ser79=	NP_001354790.1:p.Ser79=	NP_001354790.1:p.Ser79=
NEU3 transcript variant 5	NM_001367863.1:c.94+5497=	NM_001367863.1:c.94+5497T>A	NM_001367863.1:c.94+5497T>C
NEU3 transcript variant 6	NM_001367864.1:c.94+5497=	NM_001367864.1:c.94+5497T>A	NM_001367864.1:c.94+5497T>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#.

145 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss714907	Aug 11, 2000 (83)
2	KWOK	ss2013990	Oct 18, 2000 (87)
3	WI_SSAHASNP	ss6840692	Feb 20, 2003 (111)
4	BCM_SSAHASNP	ss10652591	Jul 11, 2003 (116)
5	SC_SNP	ss15916918	Feb 27, 2004 (120)
6	SSAHASNP	ss20780968	Apr 05, 2004 (121)
7	PERLEGEN	ss23681229	Sep 20, 2004 (123)
8	IMCJ-GDT	ss46564077	Mar 14, 2006 (126)
9	CSHL-HAPMAP	ss68395378	Jan 12, 2007 (127)
10	ILLUMINA	ss75151583	Dec 06, 2007 (129)
11	HGSV	ss78607751	Dec 06, 2007 (129)
12	HGSV	ss85750123	Dec 15, 2007 (130)
13	CORNELL	ss86236967	Mar 23, 2008 (129)
14	BCMHGSC_JDW	ss88641519	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss97397859	Feb 05, 2009 (130)
16	BGI	ss106752457	Feb 05, 2009 (130)
17	1000GENOMES	ss110664410	Jan 25, 2009 (130)
18	KRIBB_YJKIM	ss119357560	Dec 01, 2009 (131)
19	ILLUMINA-UK	ss119896553	Dec 01, 2009 (131)
20	ENSEMBL	ss132651444	Dec 01, 2009 (131)
21	ENSEMBL	ss143627992	Dec 01, 2009 (131)
22	GMI	ss156480404	Dec 01, 2009 (131)
23	ILLUMINA	ss160741579	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss168571889	Jul 04, 2010 (132)
25	ILLUMINA	ss173918026	Jul 04, 2010 (132)
26	BUSHMAN	ss202885627	Jul 04, 2010 (132)
27	1000GENOMES	ss211153411	Jul 14, 2010 (132)
28	1000GENOMES	ss225316772	Jul 14, 2010 (132)
29	1000GENOMES	ss235613612	Jul 15, 2010 (132)
30	1000GENOMES	ss242234890	Jul 15, 2010 (132)
31	BL	ss255280870	May 09, 2011 (134)
32	GMI	ss281067215	May 04, 2012 (137)
33	GMI	ss286407744	Apr 25, 2013 (138)
34	PJP	ss291073793	May 09, 2011 (134)
35	ILLUMINA	ss410938768	Sep 17, 2011 (135)
36	ILLUMINA	ss481143500	May 04, 2012 (137)
37	ILLUMINA	ss481165688	May 04, 2012 (137)
38	ILLUMINA	ss482154632	Sep 08, 2015 (146)
39	ILLUMINA	ss485366865	May 04, 2012 (137)
40	1000GENOMES	ss491025436	May 04, 2012 (137)
41	CLINSEQ_SNP	ss491650795	May 04, 2012 (137)
42	ILLUMINA	ss537309643	Sep 08, 2015 (146)
43	TISHKOFF	ss562654604	Apr 25, 2013 (138)
44	SSMP	ss658169832	Apr 25, 2013 (138)
45	NHLBI-ESP	ss713036978	Apr 25, 2013 (138)
46	ILLUMINA	ss778557554	Aug 21, 2014 (142)
47	ILLUMINA	ss783129074	Sep 08, 2015 (146)
48	ILLUMINA	ss784085626	Aug 21, 2014 (142)
49	ILLUMINA	ss832387956	Sep 08, 2015 (146)
50	ILLUMINA	ss834014376	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss974480391	Aug 21, 2014 (142)
52	EVA-GONL	ss988681702	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1067526450	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1077837391	Aug 21, 2014 (142)
55	1000GENOMES	ss1341907242	Aug 21, 2014 (142)
56	HAMMER_LAB	ss1397609156	Sep 08, 2015 (146)
57	DDI	ss1426677685	Apr 01, 2015 (144)
58	EVA_GENOME_DK	ss1575795865	Apr 01, 2015 (144)
59	EVA_DECODE	ss1598342702	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1626906732	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1669900765	Apr 01, 2015 (144)
62	EVA_EXAC	ss1690548607	Apr 01, 2015 (144)
63	EVA_MGP	ss1711302428	Apr 01, 2015 (144)
64	EVA_SVP	ss1713264547	Apr 01, 2015 (144)
65	ILLUMINA	ss1752032027	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1806878978	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1932038569	Feb 12, 2016 (147)
68	GENOMED	ss1967392354	Jul 19, 2016 (147)
69	JJLAB	ss2026763404	Sep 14, 2016 (149)
70	USC_VALOUEV	ss2155074109	Dec 20, 2016 (150)
71	HUMAN_LONGEVITY	ss2183586490	Dec 20, 2016 (150)
72	SYSTEMSBIOZJU	ss2627855542	Nov 08, 2017 (151)
73	ILLUMINA	ss2632851444	Nov 08, 2017 (151)
74	GRF	ss2699369194	Nov 08, 2017 (151)
75	GNOMAD	ss2739252474	Nov 08, 2017 (151)
76	GNOMAD	ss2748698214	Nov 08, 2017 (151)
77	GNOMAD	ss2901474751	Nov 08, 2017 (151)
78	AFFY	ss2984950188	Nov 08, 2017 (151)
79	SWEGEN	ss3008355708	Nov 08, 2017 (151)
80	EVA_SAMSUNG_MC	ss3023066999	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3027178883	Nov 08, 2017 (151)
82	CSHL	ss3349669762	Nov 08, 2017 (151)
83	ILLUMINA	ss3626691560	Oct 12, 2018 (152)
84	ILLUMINA	ss3630867461	Oct 12, 2018 (152)
85	ILLUMINA	ss3632990251	Oct 12, 2018 (152)
86	ILLUMINA	ss3633689834	Oct 12, 2018 (152)
87	ILLUMINA	ss3634463457	Oct 12, 2018 (152)
88	ILLUMINA	ss3635381344	Oct 12, 2018 (152)
89	ILLUMINA	ss3636146626	Oct 12, 2018 (152)
90	ILLUMINA	ss3637132218	Oct 12, 2018 (152)
91	ILLUMINA	ss3637915875	Oct 12, 2018 (152)
92	ILLUMINA	ss3640170796	Oct 12, 2018 (152)
93	ILLUMINA	ss3642913524	Oct 12, 2018 (152)
94	OMUKHERJEE_ADBS	ss3646430214	Oct 12, 2018 (152)
95	URBANLAB	ss3649643602	Oct 12, 2018 (152)
96	ILLUMINA	ss3653722261	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3675675015	Jul 13, 2019 (153)
98	EVA_DECODE	ss3692093619	Jul 13, 2019 (153)
99	ACPOP	ss3738309859	Jul 13, 2019 (153)
100	ILLUMINA	ss3744764277	Jul 13, 2019 (153)
101	EVA	ss3749488321	Jul 13, 2019 (153)
102	ILLUMINA	ss3772264136	Jul 13, 2019 (153)
103	PACBIO	ss3786993428	Jul 13, 2019 (153)
104	PACBIO	ss3792127882	Jul 13, 2019 (153)
105	PACBIO	ss3797010233	Jul 13, 2019 (153)
106	KHV_HUMAN_GENOMES	ss3814824304	Jul 13, 2019 (153)
107	EVA	ss3824654293	Apr 26, 2020 (154)
108	EVA	ss3825527843	Apr 26, 2020 (154)
109	EVA	ss3825543238	Apr 26, 2020 (154)
110	EVA	ss3825805259	Apr 26, 2020 (154)
111	EVA	ss3832703276	Apr 26, 2020 (154)
112	EVA	ss3839910867	Apr 26, 2020 (154)
113	EVA	ss3845391074	Apr 26, 2020 (154)
114	SGDP_PRJ	ss3876585952	Apr 26, 2020 (154)
115	KRGDB	ss3924993149	Apr 26, 2020 (154)
116	KOGIC	ss3970248535	Apr 26, 2020 (154)
117	FSA-LAB	ss3984009332	Apr 26, 2021 (155)
118	EVA	ss3984653073	Apr 26, 2021 (155)
119	EVA	ss3986056012	Apr 26, 2021 (155)
120	EVA	ss3986538228	Apr 26, 2021 (155)
121	EVA	ss4017545360	Apr 26, 2021 (155)
122	TOPMED	ss4890739251	Apr 26, 2021 (155)
123	TOMMO_GENOMICS	ss5202716536	Apr 26, 2021 (155)
124	EVA	ss5236897884	Apr 26, 2021 (155)
125	EVA	ss5237215848	Apr 26, 2021 (155)
126	1000G_HIGH_COVERAGE	ss5287982890	Oct 16, 2022 (156)
127	EVA	ss5315555775	Oct 16, 2022 (156)
128	EVA	ss5400576349	Oct 16, 2022 (156)
129	HUGCELL_USP	ss5483082855	Oct 16, 2022 (156)
130	EVA	ss5510414820	Oct 16, 2022 (156)
131	1000G_HIGH_COVERAGE	ss5583979480	Oct 16, 2022 (156)
132	EVA	ss5623954568	Oct 16, 2022 (156)
133	EVA	ss5624023746	Oct 16, 2022 (156)
134	SANFORD_IMAGENETICS	ss5651536031	Oct 16, 2022 (156)
135	TOMMO_GENOMICS	ss5750832835	Oct 16, 2022 (156)
136	EVA	ss5799846577	Oct 16, 2022 (156)
137	YY_MCH	ss5812551723	Oct 16, 2022 (156)
138	EVA	ss5836873091	Oct 16, 2022 (156)
139	EVA	ss5848332505	Oct 16, 2022 (156)
140	EVA	ss5850038514	Oct 16, 2022 (156)
141	EVA	ss5920602192	Oct 16, 2022 (156)
142	EVA	ss5936549953	Oct 16, 2022 (156)
143	EVA	ss5942848226	Oct 16, 2022 (156)
144	EVA	ss5980689250	Oct 16, 2022 (156)
145	EVA	ss5981269878	Oct 16, 2022 (156)
146	1000Genomes	NC_000011.9 - 74705696	Oct 12, 2018 (152)
147	1000Genomes_30x	NC_000011.10 - 74994651	Oct 16, 2022 (156)
148	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 74705696	Oct 12, 2018 (152)
149	Genome-wide autozygosity in Daghestan	NC_000011.8 - 74383344	Apr 26, 2020 (154)
150	Genetic variation in the Estonian population	NC_000011.9 - 74705696	Oct 12, 2018 (152)
151	ExAC	NC_000011.9 - 74705696	Oct 12, 2018 (152)
152	The Danish reference pan genome	NC_000011.9 - 74705696	Apr 26, 2020 (154)
153	gnomAD - Genomes	NC_000011.10 - 74994651	Apr 26, 2021 (155)
154	gnomAD - Exomes	NC_000011.9 - 74705696	Jul 13, 2019 (153)
155	GO Exome Sequencing Project	NC_000011.9 - 74705696	Oct 12, 2018 (152)
156	Genome of the Netherlands Release 5	NC_000011.9 - 74705696	Apr 26, 2020 (154)
157	HapMap	NC_000011.10 - 74994651	Apr 26, 2020 (154)
158	KOREAN population from KRGDB	NC_000011.9 - 74705696	Apr 26, 2020 (154)
159	Korean Genome Project	NC_000011.10 - 74994651	Apr 26, 2020 (154)
160	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 74705696	Apr 26, 2020 (154)
161	Northern Sweden	NC_000011.9 - 74705696	Jul 13, 2019 (153)
162	CNV burdens in cranial meningiomas	NC_000011.9 - 74705696	Apr 26, 2021 (155)
163	Qatari	NC_000011.9 - 74705696	Apr 26, 2020 (154)
164	SGDP_PRJ	NC_000011.9 - 74705696	Apr 26, 2020 (154)
165	Siberian	NC_000011.9 - 74705696	Apr 26, 2020 (154)
166	8.3KJPN	NC_000011.9 - 74705696	Apr 26, 2021 (155)
167	14KJPN	NC_000011.10 - 74994651	Oct 16, 2022 (156)
168	TopMed	NC_000011.10 - 74994651	Apr 26, 2021 (155)
169	UK 10K study - Twins	NC_000011.9 - 74705696	Oct 12, 2018 (152)
170	A Vietnamese Genetic Variation Database	NC_000011.9 - 74705696	Jul 13, 2019 (153)
171	ALFA	NC_000011.10 - 74994651	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)
rs58510334	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
32170543, ss3924993149	NC_000011.9:74705695:T:A	NC_000011.10:74994650:T:A	(self)
80353, ss78607751, ss85750123, ss88641519, ss110664410, ss119896553, ss160741579, ss168571889, ss202885627, ss211153411, ss255280870, ss281067215, ss286407744, ss291073793, ss481143500, ss491650795, ss1397609156, ss1598342702, ss1713264547, ss3642913524	NC_000011.8:74383343:T:C	NC_000011.10:74994650:T:C	(self)
54451099, 30222839, 21413263, 817489, 2624866, 8469041, 1111859, 13485248, 32170543, 418188, 11594724, 202553, 14080499, 28602932, 7590463, 60685843, 30222839, 6704165, ss225316772, ss235613612, ss242234890, ss481165688, ss482154632, ss485366865, ss491025436, ss537309643, ss562654604, ss658169832, ss713036978, ss778557554, ss783129074, ss784085626, ss832387956, ss834014376, ss974480391, ss988681702, ss1067526450, ss1077837391, ss1341907242, ss1426677685, ss1575795865, ss1626906732, ss1669900765, ss1690548607, ss1711302428, ss1752032027, ss1806878978, ss1932038569, ss1967392354, ss2026763404, ss2155074109, ss2627855542, ss2632851444, ss2699369194, ss2739252474, ss2748698214, ss2901474751, ss2984950188, ss3008355708, ss3023066999, ss3349669762, ss3626691560, ss3630867461, ss3632990251, ss3633689834, ss3634463457, ss3635381344, ss3636146626, ss3637132218, ss3637915875, ss3640170796, ss3646430214, ss3653722261, ss3675675015, ss3738309859, ss3744764277, ss3749488321, ss3772264136, ss3786993428, ss3792127882, ss3797010233, ss3824654293, ss3825527843, ss3825543238, ss3825805259, ss3832703276, ss3839910867, ss3876585952, ss3924993149, ss3984009332, ss3984653073, ss3986056012, ss3986538228, ss4017545360, ss5202716536, ss5315555775, ss5400576349, ss5510414820, ss5623954568, ss5624023746, ss5651536031, ss5799846577, ss5836873091, ss5848332505, ss5936549953, ss5942848226, ss5980689250, ss5981269878	NC_000011.9:74705695:T:C	NC_000011.10:74994650:T:C	(self)
71505415, 384347749, 638142, 26626536, 84669939, 106284907, 8558142152, ss2183586490, ss3027178883, ss3649643602, ss3692093619, ss3814824304, ss3845391074, ss3970248535, ss4890739251, ss5236897884, ss5237215848, ss5287982890, ss5483082855, ss5583979480, ss5750832835, ss5812551723, ss5850038514, ss5920602192	NC_000011.10:74994650:T:C	NC_000011.10:74994650:T:C	(self)
ss10652591	NT_033927.5:4904724:T:C	NC_000011.10:74994650:T:C	(self)
ss15916918, ss20780968	NT_033927.6:4904724:T:C	NC_000011.10:74994650:T:C	(self)
ss714907, ss2013990, ss6840692, ss23681229, ss46564077, ss68395378, ss75151583, ss86236967, ss97397859, ss106752457, ss119357560, ss132651444, ss143627992, ss156480404, ss173918026, ss410938768	NT_167190.1:20011490:T:C	NC_000011.10:74994650: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 rs544115

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.
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

rs544115