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dbSNP Short Genetic Variations

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.

rs374543045

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:41743058 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000068 (18/264690, TOPMED)
A=0.000036 (9/248816, GnomAD_exome)
A=0.000043 (6/140098, GnomAD) (+ 9 more)
A=0.000050 (6/120462, ExAC)
A=0.00457 (129/28258, 14KJPN)
A=0.00471 (79/16760, 8.3KJPN)
A=0.00014 (2/14050, ALFA)
A=0.00008 (1/12500, GO-ESP)
A=0.0005 (3/6404, 1000G_30x)
A=0.0006 (3/5008, 1000G)
A=0.0010 (3/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MGA : Missense 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 30362 G=0.99990 A=0.00010
European Sub 19730 G=0.99995 A=0.00005
African Sub 7736 G=1.0000 A=0.0000
African Others Sub 298 G=1.000 A=0.000
African American Sub 7438 G=1.0000 A=0.0000
Asian Sub 112 G=0.991 A=0.009
East Asian Sub 86 G=0.99 A=0.01
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 98 G=0.99 A=0.01
Other Sub 1930 G=1.0000 A=0.0000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999932 A=0.000068
gnomAD - Exomes Global Study-wide 248816 G=0.999964 A=0.000036
gnomAD - Exomes European Sub 134134 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48568 G=0.99984 A=0.00016
gnomAD - Exomes American Sub 34522 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 15486 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6046 G=0.9998 A=0.0002
gnomAD - Genomes Global Study-wide 140098 G=0.999957 A=0.000043
gnomAD - Genomes European Sub 75882 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 41974 G=0.99993 A=0.00007
gnomAD - Genomes American Sub 13644 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=0.9990 A=0.0010
gnomAD - Genomes Other Sub 2146 G=1.0000 A=0.0000
ExAC Global Study-wide 120462 G=0.999950 A=0.000050
ExAC Europe Sub 73244 G=1.00000 A=0.00000
ExAC Asian Sub 25062 G=0.99980 A=0.00020
ExAC American Sub 11490 G=1.00000 A=0.00000
ExAC African Sub 9778 G=0.9999 A=0.0001
ExAC Other Sub 888 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99543 A=0.00457
8.3KJPN JAPANESE Study-wide 16760 G=0.99529 A=0.00471
Allele Frequency Aggregator Total Global 14050 G=0.99986 A=0.00014
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.991 A=0.009
Allele Frequency Aggregator South Asian Sub 98 G=0.99 A=0.01
GO Exome Sequencing Project Global Study-wide 12500 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8420 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4080 G=0.9998 A=0.0002
1000Genomes_30x Global Study-wide 6404 G=0.9995 A=0.0005
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9974 A=0.0026
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9994 A=0.0006
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9970 A=0.0030
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9990 A=0.0010
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
Help

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.41743058G>A
GRCh37.p13 chr 15 NC_000015.9:g.42035256G>A
Gene: MGA, MAX dimerization protein MGA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MGA transcript variant 2 NM_001080541.3:c.4585+285…

NM_001080541.3:c.4585+2855G>A

N/A Intron Variant
MGA transcript variant 4 NM_001400242.1:c.4104+669…

NM_001400242.1:c.4104+6690G>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 1 NM_001164273.2:c.5098G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform 1 NP_001157745.1:p.Val1700M…

NP_001157745.1:p.Val1700Met

V (Val) > M (Met) Missense Variant
MGA transcript variant 3 NM_001400225.1:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform 3 NP_001387154.1:p.Val1749M…

NP_001387154.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X16 XM_005254253.4:c.4732+285…

XM_005254253.4:c.4732+2855G>A

N/A Intron Variant
MGA transcript variant X17 XM_047432286.1:c.4732+285…

XM_047432286.1:c.4732+2855G>A

N/A Intron Variant
MGA transcript variant X18 XM_047432287.1:c.4732+285…

XM_047432287.1:c.4732+2855G>A

N/A Intron Variant
MGA transcript variant X19 XM_047432288.1:c.4732+285…

XM_047432288.1:c.4732+2855G>A

N/A Intron Variant
MGA transcript variant X20 XM_047432289.1:c.4732+285…

XM_047432289.1:c.4732+2855G>A

N/A Intron Variant
MGA transcript variant X21 XM_047432290.1:c.4585+285…

XM_047432290.1:c.4585+2855G>A

N/A Intron Variant
MGA transcript variant X22 XM_047432291.1:c.4585+285…

XM_047432291.1:c.4585+2855G>A

N/A Intron Variant
MGA transcript variant X23 XM_047432292.1:c.4402+285…

XM_047432292.1:c.4402+2855G>A

N/A Intron Variant
MGA transcript variant X24 XM_047432293.1:c.4402+285…

XM_047432293.1:c.4402+2855G>A

N/A Intron Variant
MGA transcript variant X25 XM_047432295.1:c.4402+285…

XM_047432295.1:c.4402+2855G>A

N/A Intron Variant
MGA transcript variant X26 XM_047432296.1:c.4402+285…

XM_047432296.1:c.4402+2855G>A

N/A Intron Variant
MGA transcript variant X27 XM_047432297.1:c.4255+285…

XM_047432297.1:c.4255+2855G>A

N/A Intron Variant
MGA transcript variant X28 XM_047432298.1:c.4255+285…

XM_047432298.1:c.4255+2855G>A

N/A Intron Variant
MGA transcript variant X37 XM_047432305.1:c.3361+285…

XM_047432305.1:c.3361+2855G>A

N/A Intron Variant
MGA transcript variant X38 XM_047432306.1:c.3361+285…

XM_047432306.1:c.3361+2855G>A

N/A Intron Variant
MGA transcript variant X39 XM_047432307.1:c.3214+285…

XM_047432307.1:c.3214+2855G>A

N/A Intron Variant
MGA transcript variant X40 XM_047432308.1:c.3031+285…

XM_047432308.1:c.3031+2855G>A

N/A Intron Variant
MGA transcript variant X44 XM_047432310.1:c.4601+285…

XM_047432310.1:c.4601+2855G>A

N/A Intron Variant
MGA transcript variant X46 XM_047432312.1:c.*30+2855…

XM_047432312.1:c.*30+2855G>A

N/A Intron Variant
MGA transcript variant X43 XM_047432309.1:c. N/A Genic Downstream Transcript Variant
MGA transcript variant X45 XM_047432311.1:c. N/A Genic Downstream Transcript Variant
MGA transcript variant X47 XM_047432313.1:c. N/A Genic Downstream Transcript Variant
MGA transcript variant X1 XM_005254243.4:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X1 XP_005254300.1:p.Val1749M…

XP_005254300.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X2 XM_005254246.4:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X1 XP_005254303.1:p.Val1749M…

XP_005254303.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X3 XM_006720443.5:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X1 XP_006720506.1:p.Val1749M…

XP_006720506.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X4 XM_047432276.1:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X2 XP_047288232.1:p.Val1749M…

XP_047288232.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X5 XM_047432278.1:c.5245G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X2 XP_047288234.1:p.Val1749M…

XP_047288234.1:p.Val1749Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X6 XM_005254249.4:c.5098G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X3 XP_005254306.1:p.Val1700M…

XP_005254306.1:p.Val1700Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X7 XM_047432279.1:c.5098G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X3 XP_047288235.1:p.Val1700M…

XP_047288235.1:p.Val1700Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X8 XM_047432280.1:c.5098G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X4 XP_047288236.1:p.Val1700M…

XP_047288236.1:p.Val1700Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X9 XM_011521397.4:c.4915G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X5 XP_011519699.1:p.Val1639M…

XP_011519699.1:p.Val1639Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X10 XM_011521398.4:c.4915G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X6 XP_011519700.1:p.Val1639M…

XP_011519700.1:p.Val1639Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X11 XM_047432281.1:c.4915G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X6 XP_047288237.1:p.Val1639M…

XP_047288237.1:p.Val1639Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X12 XM_047432282.1:c.4915G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X6 XP_047288238.1:p.Val1639M…

XP_047288238.1:p.Val1639Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X13 XM_005254252.4:c.4768G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X7 XP_005254309.1:p.Val1590M…

XP_005254309.1:p.Val1590Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X14 XM_047432283.1:c.4768G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X8 XP_047288239.1:p.Val1590M…

XP_047288239.1:p.Val1590Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X15 XM_047432285.1:c.4768G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X8 XP_047288241.1:p.Val1590M…

XP_047288241.1:p.Val1590Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X29 XM_017022029.3:c.3874G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X16 XP_016877518.1:p.Val1292M…

XP_016877518.1:p.Val1292Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X30 XM_006720445.5:c.3874G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X16 XP_006720508.1:p.Val1292M…

XP_006720508.1:p.Val1292Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X31 XM_047432299.1:c.3874G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X17 XP_047288255.1:p.Val1292M…

XP_047288255.1:p.Val1292Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X32 XM_047432300.1:c.3727G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X18 XP_047288256.1:p.Val1243M…

XP_047288256.1:p.Val1243Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X33 XM_047432301.1:c.3727G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X19 XP_047288257.1:p.Val1243M…

XP_047288257.1:p.Val1243Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X34 XM_047432302.1:c.3727G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X19 XP_047288258.1:p.Val1243M…

XP_047288258.1:p.Val1243Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X35 XM_047432303.1:c.3544G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X20 XP_047288259.1:p.Val1182M…

XP_047288259.1:p.Val1182Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X36 XM_047432304.1:c.3397G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X21 XP_047288260.1:p.Val1133M…

XP_047288260.1:p.Val1133Met

V (Val) > M (Met) Missense Variant
MGA transcript variant X41 XM_005254254.5:c.781G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X26 XP_005254311.1:p.Val261Met V (Val) > M (Met) Missense Variant
MGA transcript variant X42 XM_011521399.4:c.592G>A V [GTG] > M [ATG] Coding Sequence Variant
MAX gene-associated protein isoform X27 XP_011519701.1:p.Val198Met V (Val) > M (Met) Missense Variant
Help

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
Help

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 G= A
GRCh38.p14 chr 15 NC_000015.10:g.41743058= NC_000015.10:g.41743058G>A
GRCh37.p13 chr 15 NC_000015.9:g.42035256= NC_000015.9:g.42035256G>A
MGA transcript variant X3 XM_006720443.5:c.5245= XM_006720443.5:c.5245G>A
MGA transcript variant X3 XM_006720443.4:c.5245= XM_006720443.4:c.5245G>A
MGA transcript variant X3 XM_006720443.3:c.5245= XM_006720443.3:c.5245G>A
MGA transcript variant X4 XM_006720443.2:c.5245= XM_006720443.2:c.5245G>A
MGA transcript variant X14 XM_006720443.1:c.5245= XM_006720443.1:c.5245G>A
MGA transcript variant X30 XM_006720445.5:c.3874= XM_006720445.5:c.3874G>A
MGA transcript variant X14 XM_006720445.4:c.3874= XM_006720445.4:c.3874G>A
MGA transcript variant X14 XM_006720445.3:c.3874= XM_006720445.3:c.3874G>A
MGA transcript variant X14 XM_006720445.2:c.3874= XM_006720445.2:c.3874G>A
MGA transcript variant X16 XM_006720445.1:c.3874= XM_006720445.1:c.3874G>A
MGA transcript variant X41 XM_005254254.5:c.781= XM_005254254.5:c.781G>A
MGA transcript variant X17 XM_005254254.4:c.781= XM_005254254.4:c.781G>A
MGA transcript variant X17 XM_005254254.3:c.781= XM_005254254.3:c.781G>A
MGA transcript variant X15 XM_005254254.2:c.781= XM_005254254.2:c.781G>A
MGA transcript variant X12 XM_005254254.1:c.781= XM_005254254.1:c.781G>A
MGA transcript variant X1 XM_005254243.4:c.5245= XM_005254243.4:c.5245G>A
MGA transcript variant X1 XM_005254243.3:c.5245= XM_005254243.3:c.5245G>A
MGA transcript variant X1 XM_005254243.2:c.5245= XM_005254243.2:c.5245G>A
MGA transcript variant X1 XM_005254243.1:c.5245= XM_005254243.1:c.5245G>A
MGA transcript variant X2 XM_005254246.4:c.5245= XM_005254246.4:c.5245G>A
MGA transcript variant X2 XM_005254246.3:c.5245= XM_005254246.3:c.5245G>A
MGA transcript variant X2 XM_005254246.2:c.5245= XM_005254246.2:c.5245G>A
MGA transcript variant X2 XM_005254246.1:c.5245= XM_005254246.1:c.5245G>A
MGA transcript variant X6 XM_005254249.4:c.5098= XM_005254249.4:c.5098G>A
MGA transcript variant X8 XM_005254249.3:c.5098= XM_005254249.3:c.5098G>A
MGA transcript variant X8 XM_005254249.2:c.5098= XM_005254249.2:c.5098G>A
MGA transcript variant X8 XM_005254249.1:c.5098= XM_005254249.1:c.5098G>A
MGA transcript variant X9 XM_011521397.4:c.4915= XM_011521397.4:c.4915G>A
MGA transcript variant X9 XM_011521397.3:c.4915= XM_011521397.3:c.4915G>A
MGA transcript variant X9 XM_011521397.2:c.4915= XM_011521397.2:c.4915G>A
MGA transcript variant X9 XM_011521397.1:c.4915= XM_011521397.1:c.4915G>A
MGA transcript variant X10 XM_011521398.4:c.4915= XM_011521398.4:c.4915G>A
MGA transcript variant X10 XM_011521398.3:c.4915= XM_011521398.3:c.4915G>A
MGA transcript variant X10 XM_011521398.2:c.4915= XM_011521398.2:c.4915G>A
MGA transcript variant X10 XM_011521398.1:c.4915= XM_011521398.1:c.4915G>A
MGA transcript variant X13 XM_005254252.4:c.4768= XM_005254252.4:c.4768G>A
MGA transcript variant X11 XM_005254252.3:c.4768= XM_005254252.3:c.4768G>A
MGA transcript variant X11 XM_005254252.2:c.4768= XM_005254252.2:c.4768G>A
MGA transcript variant X11 XM_005254252.1:c.4768= XM_005254252.1:c.4768G>A
MGA transcript variant X42 XM_011521399.4:c.592= XM_011521399.4:c.592G>A
MGA transcript variant X18 XM_011521399.3:c.592= XM_011521399.3:c.592G>A
MGA transcript variant X18 XM_011521399.2:c.592= XM_011521399.2:c.592G>A
MGA transcript variant X16 XM_011521399.1:c.592= XM_011521399.1:c.592G>A
MGA transcript variant X29 XM_017022029.3:c.3874= XM_017022029.3:c.3874G>A
MGA transcript variant X15 XM_017022029.2:c.3874= XM_017022029.2:c.3874G>A
MGA transcript variant X15 XM_017022029.1:c.3874= XM_017022029.1:c.3874G>A
MGA transcript variant 1 NM_001164273.2:c.5098= NM_001164273.2:c.5098G>A
MGA transcript variant 1 NM_001164273.1:c.5098= NM_001164273.1:c.5098G>A
MGA transcript variant 3 NM_001400225.1:c.5245= NM_001400225.1:c.5245G>A
MGA transcript variant X5 XM_047432278.1:c.5245= XM_047432278.1:c.5245G>A
MGA transcript variant X4 XM_047432276.1:c.5245= XM_047432276.1:c.5245G>A
MGA transcript variant X7 XM_047432279.1:c.5098= XM_047432279.1:c.5098G>A
MGA transcript variant X8 XM_047432280.1:c.5098= XM_047432280.1:c.5098G>A
MGA transcript variant X12 XM_047432282.1:c.4915= XM_047432282.1:c.4915G>A
MGA transcript variant X11 XM_047432281.1:c.4915= XM_047432281.1:c.4915G>A
MGA transcript variant X14 XM_047432283.1:c.4768= XM_047432283.1:c.4768G>A
MGA transcript variant X15 XM_047432285.1:c.4768= XM_047432285.1:c.4768G>A
MGA transcript variant X32 XM_047432300.1:c.3727= XM_047432300.1:c.3727G>A
MGA transcript variant X34 XM_047432302.1:c.3727= XM_047432302.1:c.3727G>A
MGA transcript variant X31 XM_047432299.1:c.3874= XM_047432299.1:c.3874G>A
MGA transcript variant X33 XM_047432301.1:c.3727= XM_047432301.1:c.3727G>A
MGA transcript variant X35 XM_047432303.1:c.3544= XM_047432303.1:c.3544G>A
MGA transcript variant X36 XM_047432304.1:c.3397= XM_047432304.1:c.3397G>A
MAX gene-associated protein isoform X1 XP_006720506.1:p.Val1749= XP_006720506.1:p.Val1749Met
MAX gene-associated protein isoform X16 XP_006720508.1:p.Val1292= XP_006720508.1:p.Val1292Met
MAX gene-associated protein isoform X26 XP_005254311.1:p.Val261= XP_005254311.1:p.Val261Met
MAX gene-associated protein isoform X1 XP_005254300.1:p.Val1749= XP_005254300.1:p.Val1749Met
MAX gene-associated protein isoform X1 XP_005254303.1:p.Val1749= XP_005254303.1:p.Val1749Met
MAX gene-associated protein isoform X3 XP_005254306.1:p.Val1700= XP_005254306.1:p.Val1700Met
MAX gene-associated protein isoform X5 XP_011519699.1:p.Val1639= XP_011519699.1:p.Val1639Met
MAX gene-associated protein isoform X6 XP_011519700.1:p.Val1639= XP_011519700.1:p.Val1639Met
MAX gene-associated protein isoform X7 XP_005254309.1:p.Val1590= XP_005254309.1:p.Val1590Met
MAX gene-associated protein isoform X27 XP_011519701.1:p.Val198= XP_011519701.1:p.Val198Met
MAX gene-associated protein isoform X16 XP_016877518.1:p.Val1292= XP_016877518.1:p.Val1292Met
MAX gene-associated protein isoform 1 NP_001157745.1:p.Val1700= NP_001157745.1:p.Val1700Met
MAX gene-associated protein isoform 3 NP_001387154.1:p.Val1749= NP_001387154.1:p.Val1749Met
MAX gene-associated protein isoform X2 XP_047288234.1:p.Val1749= XP_047288234.1:p.Val1749Met
MAX gene-associated protein isoform X2 XP_047288232.1:p.Val1749= XP_047288232.1:p.Val1749Met
MAX gene-associated protein isoform X3 XP_047288235.1:p.Val1700= XP_047288235.1:p.Val1700Met
MAX gene-associated protein isoform X4 XP_047288236.1:p.Val1700= XP_047288236.1:p.Val1700Met
MAX gene-associated protein isoform X6 XP_047288238.1:p.Val1639= XP_047288238.1:p.Val1639Met
MAX gene-associated protein isoform X6 XP_047288237.1:p.Val1639= XP_047288237.1:p.Val1639Met
MAX gene-associated protein isoform X8 XP_047288239.1:p.Val1590= XP_047288239.1:p.Val1590Met
MAX gene-associated protein isoform X8 XP_047288241.1:p.Val1590= XP_047288241.1:p.Val1590Met
MAX gene-associated protein isoform X18 XP_047288256.1:p.Val1243= XP_047288256.1:p.Val1243Met
MAX gene-associated protein isoform X19 XP_047288258.1:p.Val1243= XP_047288258.1:p.Val1243Met
MAX gene-associated protein isoform X17 XP_047288255.1:p.Val1292= XP_047288255.1:p.Val1292Met
MAX gene-associated protein isoform X19 XP_047288257.1:p.Val1243= XP_047288257.1:p.Val1243Met
MAX gene-associated protein isoform X20 XP_047288259.1:p.Val1182= XP_047288259.1:p.Val1182Met
MAX gene-associated protein isoform X21 XP_047288260.1:p.Val1133= XP_047288260.1:p.Val1133Met
MGA transcript variant 2 NM_001080541.2:c.4585+2855= NM_001080541.2:c.4585+2855G>A
MGA transcript variant 2 NM_001080541.3:c.4585+2855= NM_001080541.3:c.4585+2855G>A
MGA transcript variant 4 NM_001400242.1:c.4104+6690= NM_001400242.1:c.4104+6690G>A
MGA transcript variant X12 XM_005254253.1:c.4732+2855= XM_005254253.1:c.4732+2855G>A
MGA transcript variant X16 XM_005254253.4:c.4732+2855= XM_005254253.4:c.4732+2855G>A
MGA transcript variant X17 XM_047432286.1:c.4732+2855= XM_047432286.1:c.4732+2855G>A
MGA transcript variant X18 XM_047432287.1:c.4732+2855= XM_047432287.1:c.4732+2855G>A
MGA transcript variant X19 XM_047432288.1:c.4732+2855= XM_047432288.1:c.4732+2855G>A
MGA transcript variant X20 XM_047432289.1:c.4732+2855= XM_047432289.1:c.4732+2855G>A
MGA transcript variant X21 XM_047432290.1:c.4585+2855= XM_047432290.1:c.4585+2855G>A
MGA transcript variant X22 XM_047432291.1:c.4585+2855= XM_047432291.1:c.4585+2855G>A
MGA transcript variant X23 XM_047432292.1:c.4402+2855= XM_047432292.1:c.4402+2855G>A
MGA transcript variant X24 XM_047432293.1:c.4402+2855= XM_047432293.1:c.4402+2855G>A
MGA transcript variant X25 XM_047432295.1:c.4402+2855= XM_047432295.1:c.4402+2855G>A
MGA transcript variant X26 XM_047432296.1:c.4402+2855= XM_047432296.1:c.4402+2855G>A
MGA transcript variant X27 XM_047432297.1:c.4255+2855= XM_047432297.1:c.4255+2855G>A
MGA transcript variant X28 XM_047432298.1:c.4255+2855= XM_047432298.1:c.4255+2855G>A
MGA transcript variant X37 XM_047432305.1:c.3361+2855= XM_047432305.1:c.3361+2855G>A
MGA transcript variant X38 XM_047432306.1:c.3361+2855= XM_047432306.1:c.3361+2855G>A
MGA transcript variant X39 XM_047432307.1:c.3214+2855= XM_047432307.1:c.3214+2855G>A
MGA transcript variant X40 XM_047432308.1:c.3031+2855= XM_047432308.1:c.3031+2855G>A
MGA transcript variant X44 XM_047432310.1:c.4601+2855= XM_047432310.1:c.4601+2855G>A
MGA transcript variant X46 XM_047432312.1:c.*30+2855= XM_047432312.1:c.*30+2855G>A
Help

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#.

19 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713221650 Apr 25, 2013 (138)
2 1000GENOMES ss1353186528 Aug 21, 2014 (142)
3 EVA_EXAC ss1691771001 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2206216217 Dec 20, 2016 (150)
5 GNOMAD ss2741154143 Nov 08, 2017 (151)
6 GNOMAD ss2749277948 Nov 08, 2017 (151)
7 GNOMAD ss2934092607 Nov 08, 2017 (151)
8 EVA ss3753000198 Jul 13, 2019 (153)
9 KHV_HUMAN_GENOMES ss3818319275 Jul 13, 2019 (153)
10 EVA ss3824907589 Apr 27, 2020 (154)
11 KRGDB ss3931915179 Apr 27, 2020 (154)
12 KOGIC ss3976001831 Apr 27, 2020 (154)
13 TOPMED ss4988885401 Apr 27, 2021 (155)
14 TOMMO_GENOMICS ss5215865057 Apr 27, 2021 (155)
15 1000G_HIGH_COVERAGE ss5298200391 Oct 17, 2022 (156)
16 EVA ss5418792068 Oct 17, 2022 (156)
17 1000G_HIGH_COVERAGE ss5599478782 Oct 17, 2022 (156)
18 TOMMO_GENOMICS ss5769572743 Oct 17, 2022 (156)
19 EVA ss5875600108 Oct 17, 2022 (156)
20 1000Genomes NC_000015.9 - 42035256 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000015.10 - 41743058 Oct 17, 2022 (156)
22 ExAC NC_000015.9 - 42035256 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000015.10 - 41743058 Apr 27, 2021 (155)
24 gnomAD - Exomes NC_000015.9 - 42035256 Jul 13, 2019 (153)
25 GO Exome Sequencing Project NC_000015.9 - 42035256 Oct 12, 2018 (152)
26 KOREAN population from KRGDB NC_000015.9 - 42035256 Apr 27, 2020 (154)
27 Korean Genome Project NC_000015.10 - 41743058 Apr 27, 2020 (154)
28 8.3KJPN NC_000015.9 - 42035256 Apr 27, 2021 (155)
29 14KJPN NC_000015.10 - 41743058 Oct 17, 2022 (156)
30 TopMed NC_000015.10 - 41743058 Apr 27, 2021 (155)
31 ALFA NC_000015.10 - 41743058 Apr 27, 2021 (155)
Help

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
66248351, 2139933, 10416585, 1364870, 39092573, 73834364, ss713221650, ss1353186528, ss1691771001, ss2741154143, ss2749277948, ss2934092607, ss3753000198, ss3824907589, ss3931915179, ss5215865057, ss5418792068 NC_000015.9:42035255:G:A NC_000015.10:41743057:G:A (self)
87004717, 466997313, 32379832, 103409847, 204431061, 4975032152, ss2206216217, ss3818319275, ss3976001831, ss4988885401, ss5298200391, ss5599478782, ss5769572743, ss5875600108 NC_000015.10:41743057:G:A NC_000015.10:41743057:G:A (self)
Help

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

No publications for rs374543045

Help

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.

Software version is: 2.0.1.post761+d5e8e07