Name: rs6493010
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.

rs6493010

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:41715322 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.254944 (67481/264690, TOPMED)
C=0.249839 (34816/139354, GnomAD)
C=0.10684 (3019/28258, 14KJPN) (+ 13 more)
C=0.21222 (3786/17840, ALFA)
C=0.10889 (1825/16760, 8.3KJPN)
C=0.2427 (1554/6404, 1000G_30x)
C=0.2386 (1195/5008, 1000G)
C=0.1414 (633/4478, Estonian)
C=0.1925 (742/3854, ALSPAC)
C=0.1896 (703/3708, TWINSUK)
C=0.1225 (359/2930, KOREAN)
C=0.133 (80/600, NorthernSweden)
C=0.160 (85/532, SGDP_PRJ)
C=0.176 (38/216, Qatari)
C=0.12 (6/48, Siberian)
C=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MGA : 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	17840	C=0.21222	A=0.00000, G=0.78778, T=0.00000
European	Sub	13652	C=0.16628	A=0.00000, G=0.83372, T=0.00000
African	Sub	2534	C=0.4736	A=0.0000, G=0.5264, T=0.0000
African Others	Sub	100	C=0.60	A=0.00, G=0.40, T=0.00
African American	Sub	2434	C=0.4684	A=0.0000, G=0.5316, T=0.0000
Asian	Sub	112	C=0.062	A=0.000, G=0.938, T=0.000
East Asian	Sub	86	C=0.08	A=0.00, G=0.92, T=0.00
Other Asian	Sub	26	C=0.00	A=0.00, G=1.00, T=0.00
Latin American 1	Sub	146	C=0.240	A=0.000, G=0.760, T=0.000
Latin American 2	Sub	610	C=0.162	A=0.000, G=0.838, T=0.000
South Asian	Sub	98	C=0.13	A=0.00, G=0.87, T=0.00
Other	Sub	688	C=0.235	A=0.000, G=0.765, T=0.000

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=0.254944	G=0.745056
gnomAD - Genomes	Global	Study-wide	139354	C=0.249839	G=0.750161
gnomAD - Genomes	European	Sub	75538	C=0.17187	G=0.82813
gnomAD - Genomes	African	Sub	41644	C=0.43785	G=0.56215
gnomAD - Genomes	American	Sub	13590	C=0.17506	G=0.82494
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.1139	G=0.8861
gnomAD - Genomes	East Asian	Sub	3116	C=0.1175	G=0.8825
gnomAD - Genomes	Other	Sub	2146	C=0.2218	G=0.7782
14KJPN	JAPANESE	Study-wide	28258	C=0.10684	G=0.89316
Allele Frequency Aggregator	Total	Global	17840	C=0.21222	A=0.00000, G=0.78778, T=0.00000
Allele Frequency Aggregator	European	Sub	13652	C=0.16628	A=0.00000, G=0.83372, T=0.00000
Allele Frequency Aggregator	African	Sub	2534	C=0.4736	A=0.0000, G=0.5264, T=0.0000
Allele Frequency Aggregator	Other	Sub	688	C=0.235	A=0.000, G=0.765, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.162	A=0.000, G=0.838, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.240	A=0.000, G=0.760, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=0.062	A=0.000, G=0.938, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.13	A=0.00, G=0.87, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.10889	G=0.89111
1000Genomes_30x	Global	Study-wide	6404	C=0.2427	G=0.7573
1000Genomes_30x	African	Sub	1786	C=0.4871	G=0.5129
1000Genomes_30x	Europe	Sub	1266	C=0.1659	G=0.8341
1000Genomes_30x	South Asian	Sub	1202	C=0.1547	G=0.8453
1000Genomes_30x	East Asian	Sub	1170	C=0.1085	G=0.8915
1000Genomes_30x	American	Sub	980	C=0.164	G=0.836
1000Genomes	Global	Study-wide	5008	C=0.2386	G=0.7614
1000Genomes	African	Sub	1322	C=0.4871	G=0.5129
1000Genomes	East Asian	Sub	1008	C=0.1091	G=0.8909
1000Genomes	Europe	Sub	1006	C=0.1650	G=0.8350
1000Genomes	South Asian	Sub	978	C=0.158	G=0.842
1000Genomes	American	Sub	694	C=0.173	G=0.827
Genetic variation in the Estonian population	Estonian	Study-wide	4478	C=0.1414	G=0.8586
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.1925	G=0.8075
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1896	G=0.8104
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1225	A=0.0000, G=0.8775
Northern Sweden	ACPOP	Study-wide	600	C=0.133	G=0.867
SGDP_PRJ	Global	Study-wide	532	C=0.160	G=0.840
Qatari	Global	Study-wide	216	C=0.176	G=0.824
Siberian	Global	Study-wide	48	C=0.12	G=0.88
The Danish reference pan genome	Danish	Study-wide	40	C=0.20	G=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 15	NC_000015.10:g.41715322C>A
GRCh38.p14 chr 15	NC_000015.10:g.41715322C>G
GRCh38.p14 chr 15	NC_000015.10:g.41715322C>T
GRCh37.p13 chr 15	NC_000015.9:g.42007520C>A
GRCh37.p13 chr 15	NC_000015.9:g.42007520C>G
GRCh37.p13 chr 15	NC_000015.9:g.42007520C>T

Gene: MGA, MAX dimerization protein MGA (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MGA transcript variant 2	NM_001080541.3:c.3430+182… NM_001080541.3:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant 1	NM_001164273.2:c.3430+182… NM_001164273.2:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant 3	NM_001400225.1:c.3430+182… NM_001400225.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant 4	NM_001400242.1:c.3430+182… NM_001400242.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant 5	NM_001400243.1:c.	N/A	Genic Downstream Transcript Variant
MGA transcript variant 6	NM_001400244.1:c.	N/A	Genic Downstream Transcript Variant
MGA transcript variant 7	NM_001400245.1:c.	N/A	Genic Downstream Transcript Variant
MGA transcript variant 8	NM_001400246.1:c.	N/A	Genic Downstream Transcript Variant
MGA transcript variant 9	NM_001400247.1:c.	N/A	Genic Downstream Transcript Variant
MGA transcript variant X1	XM_005254243.4:c.3430+182… XM_005254243.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X2	XM_005254246.4:c.3430+182… XM_005254246.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X6	XM_005254249.4:c.3430+182… XM_005254249.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X13	XM_005254252.4:c.3430+182… XM_005254252.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X16	XM_005254253.4:c.3430+182… XM_005254253.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X3	XM_006720443.5:c.3430+182… XM_006720443.5:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X30	XM_006720445.5:c.2059+182… XM_006720445.5:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X9	XM_011521397.4:c.3430+182… XM_011521397.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X10	XM_011521398.4:c.3430+182… XM_011521398.4:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X29	XM_017022029.3:c.2059+182… XM_017022029.3:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X4	XM_047432276.1:c.3430+182… XM_047432276.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X5	XM_047432278.1:c.3430+182… XM_047432278.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X7	XM_047432279.1:c.3430+182… XM_047432279.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X8	XM_047432280.1:c.3430+182… XM_047432280.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X11	XM_047432281.1:c.3430+182… XM_047432281.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X12	XM_047432282.1:c.3430+182… XM_047432282.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X14	XM_047432283.1:c.3430+182… XM_047432283.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X15	XM_047432285.1:c.3430+182… XM_047432285.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X17	XM_047432286.1:c.3430+182… XM_047432286.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X18	XM_047432287.1:c.3430+182… XM_047432287.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X19	XM_047432288.1:c.3430+182… XM_047432288.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X20	XM_047432289.1:c.3430+182… XM_047432289.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X21	XM_047432290.1:c.3430+182… XM_047432290.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X22	XM_047432291.1:c.3430+182… XM_047432291.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X23	XM_047432292.1:c.3430+182… XM_047432292.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X24	XM_047432293.1:c.3430+182… XM_047432293.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X25	XM_047432295.1:c.3430+182… XM_047432295.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X26	XM_047432296.1:c.3430+182… XM_047432296.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X27	XM_047432297.1:c.3430+182… XM_047432297.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X28	XM_047432298.1:c.3430+182… XM_047432298.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X31	XM_047432299.1:c.2059+182… XM_047432299.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X32	XM_047432300.1:c.2059+182… XM_047432300.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X33	XM_047432301.1:c.2059+182… XM_047432301.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X34	XM_047432302.1:c.2059+182… XM_047432302.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X35	XM_047432303.1:c.2059+182… XM_047432303.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X36	XM_047432304.1:c.2059+182… XM_047432304.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X37	XM_047432305.1:c.2059+182… XM_047432305.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X38	XM_047432306.1:c.2059+182… XM_047432306.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X39	XM_047432307.1:c.2059+182… XM_047432307.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X40	XM_047432308.1:c.2059+182… XM_047432308.1:c.2059+1826C>A	N/A	Intron Variant
MGA transcript variant X43	XM_047432309.1:c.3430+182… XM_047432309.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X44	XM_047432310.1:c.3430+182… XM_047432310.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X45	XM_047432311.1:c.3430+182… XM_047432311.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X46	XM_047432312.1:c.3430+182… XM_047432312.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X47	XM_047432313.1:c.3430+182… XM_047432313.1:c.3430+1826C>A	N/A	Intron Variant
MGA transcript variant X41	XM_005254254.5:c.	N/A	Genic Upstream Transcript Variant
MGA transcript variant X42	XM_011521399.4:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 15	NC_000015.10:g.41715322=	NC_000015.10:g.41715322C>A	NC_000015.10:g.41715322C>G	NC_000015.10:g.41715322C>T
GRCh37.p13 chr 15	NC_000015.9:g.42007520=	NC_000015.9:g.42007520C>A	NC_000015.9:g.42007520C>G	NC_000015.9:g.42007520C>T
MGA transcript variant 2	NM_001080541.2:c.3430+1826=	NM_001080541.2:c.3430+1826C>A	NM_001080541.2:c.3430+1826C>G	NM_001080541.2:c.3430+1826C>T
MGA transcript variant 2	NM_001080541.3:c.3430+1826=	NM_001080541.3:c.3430+1826C>A	NM_001080541.3:c.3430+1826C>G	NM_001080541.3:c.3430+1826C>T
MGA transcript variant 1	NM_001164273.1:c.3430+1826=	NM_001164273.1:c.3430+1826C>A	NM_001164273.1:c.3430+1826C>G	NM_001164273.1:c.3430+1826C>T
MGA transcript variant 1	NM_001164273.2:c.3430+1826=	NM_001164273.2:c.3430+1826C>A	NM_001164273.2:c.3430+1826C>G	NM_001164273.2:c.3430+1826C>T
MGA transcript variant 3	NM_001400225.1:c.3430+1826=	NM_001400225.1:c.3430+1826C>A	NM_001400225.1:c.3430+1826C>G	NM_001400225.1:c.3430+1826C>T
MGA transcript variant 4	NM_001400242.1:c.3430+1826=	NM_001400242.1:c.3430+1826C>A	NM_001400242.1:c.3430+1826C>G	NM_001400242.1:c.3430+1826C>T
MGA transcript variant X1	XM_005254243.1:c.3430+1826=	XM_005254243.1:c.3430+1826C>A	XM_005254243.1:c.3430+1826C>G	XM_005254243.1:c.3430+1826C>T
MGA transcript variant X1	XM_005254243.4:c.3430+1826=	XM_005254243.4:c.3430+1826C>A	XM_005254243.4:c.3430+1826C>G	XM_005254243.4:c.3430+1826C>T
MGA transcript variant X2	XM_005254244.1:c.3430+1826=	XM_005254244.1:c.3430+1826C>A	XM_005254244.1:c.3430+1826C>G	XM_005254244.1:c.3430+1826C>T
MGA transcript variant X3	XM_005254245.1:c.3430+1826=	XM_005254245.1:c.3430+1826C>A	XM_005254245.1:c.3430+1826C>G	XM_005254245.1:c.3430+1826C>T
MGA transcript variant X2	XM_005254246.1:c.3430+1826=	XM_005254246.1:c.3430+1826C>A	XM_005254246.1:c.3430+1826C>G	XM_005254246.1:c.3430+1826C>T
MGA transcript variant X2	XM_005254246.4:c.3430+1826=	XM_005254246.4:c.3430+1826C>A	XM_005254246.4:c.3430+1826C>G	XM_005254246.4:c.3430+1826C>T
MGA transcript variant X6	XM_005254247.1:c.3430+1826=	XM_005254247.1:c.3430+1826C>A	XM_005254247.1:c.3430+1826C>G	XM_005254247.1:c.3430+1826C>T
MGA transcript variant X7	XM_005254248.1:c.3430+1826=	XM_005254248.1:c.3430+1826C>A	XM_005254248.1:c.3430+1826C>G	XM_005254248.1:c.3430+1826C>T
MGA transcript variant X8	XM_005254249.1:c.3430+1826=	XM_005254249.1:c.3430+1826C>A	XM_005254249.1:c.3430+1826C>G	XM_005254249.1:c.3430+1826C>T
MGA transcript variant X6	XM_005254249.4:c.3430+1826=	XM_005254249.4:c.3430+1826C>A	XM_005254249.4:c.3430+1826C>G	XM_005254249.4:c.3430+1826C>T
MGA transcript variant X8	XM_005254250.1:c.3430+1826=	XM_005254250.1:c.3430+1826C>A	XM_005254250.1:c.3430+1826C>G	XM_005254250.1:c.3430+1826C>T
MGA transcript variant X9	XM_005254251.1:c.3430+1826=	XM_005254251.1:c.3430+1826C>A	XM_005254251.1:c.3430+1826C>G	XM_005254251.1:c.3430+1826C>T
MGA transcript variant X11	XM_005254252.1:c.3430+1826=	XM_005254252.1:c.3430+1826C>A	XM_005254252.1:c.3430+1826C>G	XM_005254252.1:c.3430+1826C>T
MGA transcript variant X13	XM_005254252.4:c.3430+1826=	XM_005254252.4:c.3430+1826C>A	XM_005254252.4:c.3430+1826C>G	XM_005254252.4:c.3430+1826C>T
MGA transcript variant X12	XM_005254253.1:c.3430+1826=	XM_005254253.1:c.3430+1826C>A	XM_005254253.1:c.3430+1826C>G	XM_005254253.1:c.3430+1826C>T
MGA transcript variant X16	XM_005254253.4:c.3430+1826=	XM_005254253.4:c.3430+1826C>A	XM_005254253.4:c.3430+1826C>G	XM_005254253.4:c.3430+1826C>T
MGA transcript variant X3	XM_006720443.5:c.3430+1826=	XM_006720443.5:c.3430+1826C>A	XM_006720443.5:c.3430+1826C>G	XM_006720443.5:c.3430+1826C>T
MGA transcript variant X30	XM_006720445.5:c.2059+1826=	XM_006720445.5:c.2059+1826C>A	XM_006720445.5:c.2059+1826C>G	XM_006720445.5:c.2059+1826C>T
MGA transcript variant X9	XM_011521397.4:c.3430+1826=	XM_011521397.4:c.3430+1826C>A	XM_011521397.4:c.3430+1826C>G	XM_011521397.4:c.3430+1826C>T
MGA transcript variant X10	XM_011521398.4:c.3430+1826=	XM_011521398.4:c.3430+1826C>A	XM_011521398.4:c.3430+1826C>G	XM_011521398.4:c.3430+1826C>T
MGA transcript variant X29	XM_017022029.3:c.2059+1826=	XM_017022029.3:c.2059+1826C>A	XM_017022029.3:c.2059+1826C>G	XM_017022029.3:c.2059+1826C>T
MGA transcript variant X4	XM_047432276.1:c.3430+1826=	XM_047432276.1:c.3430+1826C>A	XM_047432276.1:c.3430+1826C>G	XM_047432276.1:c.3430+1826C>T
MGA transcript variant X5	XM_047432278.1:c.3430+1826=	XM_047432278.1:c.3430+1826C>A	XM_047432278.1:c.3430+1826C>G	XM_047432278.1:c.3430+1826C>T
MGA transcript variant X7	XM_047432279.1:c.3430+1826=	XM_047432279.1:c.3430+1826C>A	XM_047432279.1:c.3430+1826C>G	XM_047432279.1:c.3430+1826C>T
MGA transcript variant X8	XM_047432280.1:c.3430+1826=	XM_047432280.1:c.3430+1826C>A	XM_047432280.1:c.3430+1826C>G	XM_047432280.1:c.3430+1826C>T
MGA transcript variant X11	XM_047432281.1:c.3430+1826=	XM_047432281.1:c.3430+1826C>A	XM_047432281.1:c.3430+1826C>G	XM_047432281.1:c.3430+1826C>T
MGA transcript variant X12	XM_047432282.1:c.3430+1826=	XM_047432282.1:c.3430+1826C>A	XM_047432282.1:c.3430+1826C>G	XM_047432282.1:c.3430+1826C>T
MGA transcript variant X14	XM_047432283.1:c.3430+1826=	XM_047432283.1:c.3430+1826C>A	XM_047432283.1:c.3430+1826C>G	XM_047432283.1:c.3430+1826C>T
MGA transcript variant X15	XM_047432285.1:c.3430+1826=	XM_047432285.1:c.3430+1826C>A	XM_047432285.1:c.3430+1826C>G	XM_047432285.1:c.3430+1826C>T
MGA transcript variant X17	XM_047432286.1:c.3430+1826=	XM_047432286.1:c.3430+1826C>A	XM_047432286.1:c.3430+1826C>G	XM_047432286.1:c.3430+1826C>T
MGA transcript variant X18	XM_047432287.1:c.3430+1826=	XM_047432287.1:c.3430+1826C>A	XM_047432287.1:c.3430+1826C>G	XM_047432287.1:c.3430+1826C>T
MGA transcript variant X19	XM_047432288.1:c.3430+1826=	XM_047432288.1:c.3430+1826C>A	XM_047432288.1:c.3430+1826C>G	XM_047432288.1:c.3430+1826C>T
MGA transcript variant X20	XM_047432289.1:c.3430+1826=	XM_047432289.1:c.3430+1826C>A	XM_047432289.1:c.3430+1826C>G	XM_047432289.1:c.3430+1826C>T
MGA transcript variant X21	XM_047432290.1:c.3430+1826=	XM_047432290.1:c.3430+1826C>A	XM_047432290.1:c.3430+1826C>G	XM_047432290.1:c.3430+1826C>T
MGA transcript variant X22	XM_047432291.1:c.3430+1826=	XM_047432291.1:c.3430+1826C>A	XM_047432291.1:c.3430+1826C>G	XM_047432291.1:c.3430+1826C>T
MGA transcript variant X23	XM_047432292.1:c.3430+1826=	XM_047432292.1:c.3430+1826C>A	XM_047432292.1:c.3430+1826C>G	XM_047432292.1:c.3430+1826C>T
MGA transcript variant X24	XM_047432293.1:c.3430+1826=	XM_047432293.1:c.3430+1826C>A	XM_047432293.1:c.3430+1826C>G	XM_047432293.1:c.3430+1826C>T
MGA transcript variant X25	XM_047432295.1:c.3430+1826=	XM_047432295.1:c.3430+1826C>A	XM_047432295.1:c.3430+1826C>G	XM_047432295.1:c.3430+1826C>T
MGA transcript variant X26	XM_047432296.1:c.3430+1826=	XM_047432296.1:c.3430+1826C>A	XM_047432296.1:c.3430+1826C>G	XM_047432296.1:c.3430+1826C>T
MGA transcript variant X27	XM_047432297.1:c.3430+1826=	XM_047432297.1:c.3430+1826C>A	XM_047432297.1:c.3430+1826C>G	XM_047432297.1:c.3430+1826C>T
MGA transcript variant X28	XM_047432298.1:c.3430+1826=	XM_047432298.1:c.3430+1826C>A	XM_047432298.1:c.3430+1826C>G	XM_047432298.1:c.3430+1826C>T
MGA transcript variant X31	XM_047432299.1:c.2059+1826=	XM_047432299.1:c.2059+1826C>A	XM_047432299.1:c.2059+1826C>G	XM_047432299.1:c.2059+1826C>T
MGA transcript variant X32	XM_047432300.1:c.2059+1826=	XM_047432300.1:c.2059+1826C>A	XM_047432300.1:c.2059+1826C>G	XM_047432300.1:c.2059+1826C>T
MGA transcript variant X33	XM_047432301.1:c.2059+1826=	XM_047432301.1:c.2059+1826C>A	XM_047432301.1:c.2059+1826C>G	XM_047432301.1:c.2059+1826C>T
MGA transcript variant X34	XM_047432302.1:c.2059+1826=	XM_047432302.1:c.2059+1826C>A	XM_047432302.1:c.2059+1826C>G	XM_047432302.1:c.2059+1826C>T
MGA transcript variant X35	XM_047432303.1:c.2059+1826=	XM_047432303.1:c.2059+1826C>A	XM_047432303.1:c.2059+1826C>G	XM_047432303.1:c.2059+1826C>T
MGA transcript variant X36	XM_047432304.1:c.2059+1826=	XM_047432304.1:c.2059+1826C>A	XM_047432304.1:c.2059+1826C>G	XM_047432304.1:c.2059+1826C>T
MGA transcript variant X37	XM_047432305.1:c.2059+1826=	XM_047432305.1:c.2059+1826C>A	XM_047432305.1:c.2059+1826C>G	XM_047432305.1:c.2059+1826C>T
MGA transcript variant X38	XM_047432306.1:c.2059+1826=	XM_047432306.1:c.2059+1826C>A	XM_047432306.1:c.2059+1826C>G	XM_047432306.1:c.2059+1826C>T
MGA transcript variant X39	XM_047432307.1:c.2059+1826=	XM_047432307.1:c.2059+1826C>A	XM_047432307.1:c.2059+1826C>G	XM_047432307.1:c.2059+1826C>T
MGA transcript variant X40	XM_047432308.1:c.2059+1826=	XM_047432308.1:c.2059+1826C>A	XM_047432308.1:c.2059+1826C>G	XM_047432308.1:c.2059+1826C>T
MGA transcript variant X43	XM_047432309.1:c.3430+1826=	XM_047432309.1:c.3430+1826C>A	XM_047432309.1:c.3430+1826C>G	XM_047432309.1:c.3430+1826C>T
MGA transcript variant X44	XM_047432310.1:c.3430+1826=	XM_047432310.1:c.3430+1826C>A	XM_047432310.1:c.3430+1826C>G	XM_047432310.1:c.3430+1826C>T
MGA transcript variant X45	XM_047432311.1:c.3430+1826=	XM_047432311.1:c.3430+1826C>A	XM_047432311.1:c.3430+1826C>G	XM_047432311.1:c.3430+1826C>T
MGA transcript variant X46	XM_047432312.1:c.3430+1826=	XM_047432312.1:c.3430+1826C>A	XM_047432312.1:c.3430+1826C>G	XM_047432312.1:c.3430+1826C>T
MGA transcript variant X47	XM_047432313.1:c.3430+1826=	XM_047432313.1:c.3430+1826C>A	XM_047432313.1:c.3430+1826C>G	XM_047432313.1:c.3430+1826C>T

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#.

61 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10789654	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss12332725	Jul 11, 2003 (116)
3	HGSV	ss78234150	Dec 06, 2007 (129)
4	BCMHGSC_JDW	ss90135854	Mar 24, 2008 (129)
5	HUMANGENOME_JCVI	ss96753598	Feb 05, 2009 (130)
6	ENSEMBL	ss134256773	Dec 01, 2009 (131)
7	ENSEMBL	ss139819087	Dec 01, 2009 (131)
8	GMI	ss156465755	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss169257038	Jul 04, 2010 (132)
10	BUSHMAN	ss200762268	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss207399547	Jul 04, 2010 (132)
12	BL	ss254932945	May 09, 2011 (134)
13	GMI	ss282229276	May 04, 2012 (137)
14	GMI	ss286941674	Apr 25, 2013 (138)
15	PJP	ss291825726	May 09, 2011 (134)
16	1000GENOMES	ss338730601	May 09, 2011 (134)
17	SSMP	ss660158275	Apr 25, 2013 (138)
18	EVA-GONL	ss991717615	Aug 21, 2014 (142)
19	JMKIDD_LAB	ss1080072540	Aug 21, 2014 (142)
20	1000GENOMES	ss1353185791	Aug 21, 2014 (142)
21	DDI	ss1427605240	Apr 01, 2015 (144)
22	EVA_GENOME_DK	ss1577578475	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1632852044	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1675846077	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1808173157	Sep 08, 2015 (146)
26	WEILL_CORNELL_DGM	ss1935122611	Feb 12, 2016 (147)
27	GENOMED	ss1968091845	Jul 19, 2016 (147)
28	JJLAB	ss2028341088	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2156739328	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2206214577	Dec 20, 2016 (150)
31	SYSTEMSBIOZJU	ss2628664661	Nov 08, 2017 (151)
32	GRF	ss2701205940	Nov 08, 2017 (151)
33	GNOMAD	ss2934090471	Nov 08, 2017 (151)
34	SWEGEN	ss3013170337	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3027994397	Nov 08, 2017 (151)
36	CSHL	ss3351086144	Nov 08, 2017 (151)
37	URBANLAB	ss3650340274	Oct 12, 2018 (152)
38	EGCUT_WGS	ss3680315456	Jul 13, 2019 (153)
39	EVA_DECODE	ss3697759915	Jul 13, 2019 (153)
40	ACPOP	ss3740867003	Jul 13, 2019 (153)
41	EVA	ss3753000010	Jul 13, 2019 (153)
42	PACBIO	ss3787827570	Jul 13, 2019 (153)
43	PACBIO	ss3792842939	Jul 13, 2019 (153)
44	PACBIO	ss3797727411	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3818319105	Jul 13, 2019 (153)
46	EVA	ss3834202080	Apr 27, 2020 (154)
47	EVA	ss3840699953	Apr 27, 2020 (154)
48	EVA	ss3846188579	Apr 27, 2020 (154)
49	SGDP_PRJ	ss3882773864	Apr 27, 2020 (154)
50	KRGDB	ss3931914765	Apr 27, 2020 (154)
51	TOPMED	ss4988878365	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5215864149	Apr 27, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5298199763	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5491955264	Oct 17, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5599477814	Oct 17, 2022 (156)
56	SANFORD_IMAGENETICS	ss5657373931	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5769571530	Oct 17, 2022 (156)
58	YY_MCH	ss5815273509	Oct 17, 2022 (156)
59	EVA	ss5828111203	Oct 17, 2022 (156)
60	EVA	ss5875599369	Oct 17, 2022 (156)
61	EVA	ss5948770262	Oct 17, 2022 (156)
62	1000Genomes	NC_000015.9 - 42007520	Oct 12, 2018 (152)
63	1000Genomes_30x	NC_000015.10 - 41715322	Oct 17, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 42007520	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000015.9 - 42007520	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000015.9 - 42007520	Apr 27, 2020 (154)
67	gnomAD - Genomes	NC_000015.10 - 41715322	Apr 27, 2021 (155)
68	KOREAN population from KRGDB	NC_000015.9 - 42007520	Apr 27, 2020 (154)
69	Northern Sweden	NC_000015.9 - 42007520	Jul 13, 2019 (153)
70	Qatari	NC_000015.9 - 42007520	Apr 27, 2020 (154)
71	SGDP_PRJ	NC_000015.9 - 42007520	Apr 27, 2020 (154)
72	Siberian	NC_000015.9 - 42007520	Apr 27, 2020 (154)
73	8.3KJPN	NC_000015.9 - 42007520	Apr 27, 2021 (155)
74	14KJPN	NC_000015.10 - 41715322	Oct 17, 2022 (156)
75	TopMed	NC_000015.10 - 41715322	Apr 27, 2021 (155)
76	UK 10K study - Twins	NC_000015.9 - 42007520	Oct 12, 2018 (152)
77	ALFA	NC_000015.10 - 41715322	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
39092159, ss3931914765	NC_000015.9:42007519:C:A	NC_000015.10:41715321:C:A	(self)
4334744986	NC_000015.10:41715321:C:A	NC_000015.10:41715321:C:A	(self)
ss78234150, ss90135854, ss169257038, ss200762268, ss207399547, ss254932945, ss282229276, ss286941674, ss291825726	NC_000015.8:39794811:C:G	NC_000015.10:41715321:C:G	(self)
66247577, 36776252, 26053704, 3830493, 39092159, 14151868, 17164541, 34790844, 9255682, 73833456, 36776252, ss338730601, ss660158275, ss991717615, ss1080072540, ss1353185791, ss1427605240, ss1577578475, ss1632852044, ss1675846077, ss1808173157, ss1935122611, ss1968091845, ss2028341088, ss2156739328, ss2628664661, ss2701205940, ss2934090471, ss3013170337, ss3351086144, ss3680315456, ss3740867003, ss3753000010, ss3787827570, ss3792842939, ss3797727411, ss3834202080, ss3840699953, ss3882773864, ss3931914765, ss5215864149, ss5657373931, ss5828111203, ss5948770262	NC_000015.9:42007519:C:G	NC_000015.10:41715321:C:G	(self)
87003749, 466991567, 103408634, 204424025, 4334744986, ss2206214577, ss3027994397, ss3650340274, ss3697759915, ss3818319105, ss3846188579, ss4988878365, ss5298199763, ss5491955264, ss5599477814, ss5769571530, ss5815273509, ss5875599369	NC_000015.10:41715321:C:G	NC_000015.10:41715321:C:G	(self)
ss10789654, ss12332725	NT_010194.15:12797130:C:G	NC_000015.10:41715321:C:G	(self)
ss96753598, ss134256773, ss139819087, ss156465755	NT_010194.17:12798076:C:G	NC_000015.10:41715321:C:G	(self)
4334744986	NC_000015.10:41715321:C:T	NC_000015.10:41715321:C:T	(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 rs6493010

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

rs6493010