MRPS23 - SNP

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Select item 343719511.

rs34371951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57840938 (GRCh38)
17:55918299 (GRCh37)
Canonical SPDI:: NC_000017.11:57840937:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002006/401 (ALFA)
A=0.000106/2 (TOMMO)
A=0.003745/2 (MGP)
A=0.003911/983 (GnomAD_exomes)
A=0.00463/1 (Qatari)
A=0.004824/585 (ExAC)
A=0.016414/2300 (GnomAD)
A=0.017583/4654 (TOPMED)
A=0.018684/243 (GoESP)
A=0.019051/95 (1000Genomes)
A=0.026379/2076 (PAGE_STUDY)
A=0.072152/57 (HapMap)
G=0.416667/5 (SGDP_PRJ)
HGVS:: NC_000017.11:g.57840938G>A, NC_000017.10:g.55918299G>A, NM_016070.4:c.408C>T, NM_016070.3:c.408C>T

Select item 1170664362.

rs117066436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57839930 (GRCh38)
17:55917291 (GRCh37)
Canonical SPDI:: NC_000017.11:57839929:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006739/334 (ALFA)
A=0.001874/9 (1000Genomes)
A=0.003125/14 (Estonian)
A=0.003289/1 (FINRISK)
A=0.003333/2 (NorthernSweden)
A=0.003745/2 (MGP)
A=0.004323/1087 (GnomAD_exomes)
A=0.004376/531 (ExAC)
A=0.004685/1240 (TOPMED)
A=0.00505/708 (GnomAD)
A=0.006305/82 (GoESP)
A=0.008044/31 (ALSPAC)
A=0.010248/38 (TWINSUK)
A=0.016032/16 (GoNL)
HGVS:: NC_000017.11:g.57839930G>A, NC_000017.10:g.55917291G>A, NM_016070.4:c.426C>T, NM_016070.3:c.426C>T

Select item 1385774473.

rs138577447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:57849279 (GRCh38)
17:55926640 (GRCh37)
Canonical SPDI:: NC_000017.11:57849278:G:T
Gene:: MRPS23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000763/168 (ALFA)
T=0.000223/1 (Estonian)
T=0.000513/72 (GnomAD)
T=0.000519/2 (ALSPAC)
T=0.000539/2 (TWINSUK)
T=0.000692/9 (GoESP)
T=0.000793/210 (TOPMED)
T=0.00094/74 (PAGE_STUDY)
T=0.002004/2 (GoNL)
T=0.00463/1 (Qatari)
T=0.006069/1526 (GnomAD_exomes)
T=0.006635/805 (ExAC)
T=0.006871/34 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.57849279G>T, NC_000017.10:g.55926640G>T, NM_016070.4:c.176C>A, NM_016070.3:c.176C>A, NP_057154.2:p.Pro59His

Select item 1418618254.

rs141861825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:57849228 (GRCh38)
17:55926589 (GRCh37)
Canonical SPDI:: NC_000017.11:57849227:C:G,NC_000017.11:57849227:C:T
Gene:: MRPS23 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.018541/510 (ALFA)
G=0.014834/74 (1000Genomes)
G=0.016032/16 (GoNL)
G=0.016071/72 (Estonian)
G=0.017896/4737 (TOPMED)
G=0.018356/2575 (GnomAD)
G=0.018878/70 (TWINSUK)
G=0.019914/259 (GoESP)
G=0.020599/11 (MGP)
G=0.023148/5 (Qatari)
G=0.023333/14 (NorthernSweden)
G=0.025/1 (GENOME_DK)
G=0.025169/97 (ALSPAC)
G=0.026316/8 (FINRISK)
C=0.5/1 (Siberian)
C=0.5/8 (SGDP_PRJ)
HGVS:: NC_000017.11:g.57849228C>G, NC_000017.11:g.57849228C>T, NC_000017.10:g.55926589C>G, NC_000017.10:g.55926589C>T

Select item 1453001155.

rs145300115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:57849392 (GRCh38)
17:55926753 (GRCh37)
Canonical SPDI:: NC_000017.11:57849391:C:A
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000092/11 (ExAC)
A=0.000104/26 (GnomAD_exomes)
A=0.000235/33 (GnomAD)
A=0.000378/100 (TOPMED)
A=0.000615/8 (GoESP)
HGVS:: NC_000017.11:g.57849392C>A, NC_000017.10:g.55926753C>A, NM_016070.4:c.63G>T, NM_016070.3:c.63G>T

Select item 1484716396.

rs148471639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:57849330 (GRCh38)
17:55926691 (GRCh37)
Canonical SPDI:: NC_000017.11:57849329:C:T
Gene:: MRPS23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000357/16 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000325/86 (TOPMED)
T=0.000371/52 (GnomAD)
T=0.00041/103 (GnomAD_exomes)
T=0.000446/54 (ExAC)
T=0.000538/7 (GoESP)
T=0.000809/3 (TWINSUK)
T=0.001002/1 (GoNL)
T=0.001557/6 (ALSPAC)
HGVS:: NC_000017.11:g.57849330C>T, NC_000017.10:g.55926691C>T, NM_016070.4:c.125G>A, NM_016070.3:c.125G>A, NP_057154.2:p.Arg42Lys

Select item 3694580337.

rs369458033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57849970 (GRCh38)
17:55927331 (GRCh37)
Canonical SPDI:: NC_000017.11:57849969:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000057/8 (GnomAD)
A=0.000073/16 (GnomAD_exomes)
A=0.000128/7 (ExAC)
A=0.000154/2 (GoESP)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000017.11:g.57849970G>A, NC_000017.10:g.55927331G>A, NM_016070.4:c.41C>T, NM_016070.3:c.41C>T, NP_057154.2:p.Ser14Phe

Select item 3762239728.

rs376223972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:57849404 (GRCh38)
17:55926765 (GRCh37)
Canonical SPDI:: NC_000017.11:57849403:C:G,NC_000017.11:57849403:C:T
Gene:: MRPS23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000036/9 (GnomAD_exomes)
T=0.00005/6 (ExAC)
T=0.000077/1 (GoESP)
T=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.57849404C>G, NC_000017.11:g.57849404C>T, NC_000017.10:g.55926765C>G, NC_000017.10:g.55926765C>T, NM_016070.4:c.51G>C, NM_016070.4:c.51G>A, NM_016070.3:c.51G>C, NM_016070.3:c.51G>A

Select item 5672781459.

rs567278145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:57839918 (GRCh38)
17:55917279 (GRCh37)
Canonical SPDI:: NC_000017.11:57839917:G:A,NC_000017.11:57839917:G:C
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000025/3 (ExAC)
A=0.000028/7 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.57839918G>A, NC_000017.11:g.57839918G>C, NC_000017.10:g.55917279G>A, NC_000017.10:g.55917279G>C, NM_016070.4:c.438C>T, NM_016070.4:c.438C>G, NM_016070.3:c.438C>T, NM_016070.3:c.438C>G, NP_057154.2:p.His146Gln

Select item 75853336710.

rs758533367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:57849975 (GRCh38)
17:55927336 (GRCh37)
Canonical SPDI:: NC_000017.11:57849974:G:A,NC_000017.11:57849974:G:C
Gene:: MRPS23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
A=0.000072/19 (TOPMED)
A=0.000132/29 (GnomAD_exomes)
A=0.000145/8 (ExAC)
HGVS:: NC_000017.11:g.57849975G>A, NC_000017.11:g.57849975G>C, NC_000017.10:g.55927336G>A, NC_000017.10:g.55927336G>C, NM_016070.4:c.36C>T, NM_016070.4:c.36C>G, NM_016070.3:c.36C>T, NM_016070.3:c.36C>G, NP_057154.2:p.Ile12Met

Select item 75924351411.

rs759243514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57849995 (GRCh38)
17:55927356 (GRCh37)
Canonical SPDI:: NC_000017.11:57849994:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000023/5 (GnomAD_exomes)
A=0.000074/4 (ExAC)
HGVS:: NC_000017.11:g.57849995G>A, NC_000017.10:g.55927356G>A, NM_016070.4:c.16C>T, NM_016070.3:c.16C>T

Select item 77272193712.

rs772721937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:57849336 (GRCh38)
17:55926697 (GRCh37)
Canonical SPDI:: NC_000017.11:57849335:G:A,NC_000017.11:57849335:G:C
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000017.11:g.57849336G>A, NC_000017.11:g.57849336G>C, NC_000017.10:g.55926697G>A, NC_000017.10:g.55926697G>C, NM_016070.4:c.119C>T, NM_016070.4:c.119C>G, NM_016070.3:c.119C>T, NM_016070.3:c.119C>G, NP_057154.2:p.Pro40Leu, NP_057154.2:p.Pro40Arg

Select item 77329316913.

rs773293169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57849226 (GRCh38)
17:55926587 (GRCh37)
Canonical SPDI:: NC_000017.11:57849225:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (ExAC)
A=0.000008/2 (TOPMED)
A=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.57849226G>A, NC_000017.10:g.55926587G>A

Select item 94893948314.

rs948939483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:57841184 (GRCh38)
17:55918545 (GRCh37)
Canonical SPDI:: NC_000017.11:57841183:G:A,NC_000017.11:57841183:G:T
Gene:: MRPS23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
A=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.57841184G>A, NC_000017.11:g.57841184G>T, NC_000017.10:g.55918545G>A, NC_000017.10:g.55918545G>T, NM_016070.4:c.292C>T, NM_016070.4:c.292C>A, NM_016070.3:c.292C>T, NM_016070.3:c.292C>A, NP_057154.2:p.Arg98Trp

Select item 122982312115.

rs1229823121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57841191 (GRCh38)
17:55918552 (GRCh37)
Canonical SPDI:: NC_000017.11:57841190:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.57841191G>A, NC_000017.10:g.55918552G>A, NM_016070.4:c.285C>T, NM_016070.3:c.285C>T

Select item 214487351616.

rs2144873516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:57840934 (GRCh38)
17:55918295 (GRCh37)
Canonical SPDI:: NC_000017.11:57840933:C:T
Gene:: MRPS23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.57840934C>T, NC_000017.10:g.55918295C>T, NM_016070.4:c.412G>A, NM_016070.3:c.412G>A, NP_057154.2:p.Ala138Thr

Select item 38647868417.

rs386478684 has merged into rs141861825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:57849228 (GRCh38)
17:55926589 (GRCh37)
Canonical SPDI:: NC_000017.11:57849227:C:G,NC_000017.11:57849227:C:T
Gene:: MRPS23 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.018541/510 (ALFA)
G=0.014834/74 (1000Genomes)
G=0.016032/16 (GoNL)
G=0.016071/72 (Estonian)
G=0.017896/4737 (TOPMED)
G=0.018356/2575 (GnomAD)
G=0.018878/70 (TWINSUK)
G=0.019914/259 (GoESP)
G=0.020599/11 (MGP)
G=0.023148/5 (Qatari)
G=0.023333/14 (NorthernSweden)
G=0.025/1 (GENOME_DK)
G=0.025169/97 (ALSPAC)
G=0.026316/8 (FINRISK)
C=0.5/1 (Siberian)
C=0.5/8 (SGDP_PRJ)
HGVS:: NC_000017.11:g.57849228C>G, NC_000017.11:g.57849228C>T, NC_000017.10:g.55926589C>G, NC_000017.10:g.55926589C>T

Select item 72216818.

rs722168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:57835609 (GRCh38)
17:55912970 (GRCh37)
Canonical SPDI:: NC_000017.11:57835608:T:C
Gene:: MRPS23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.121199/9270 (ALFA)
C=0.027379/80 (KOREAN)
C=0.035707/598 (TOMMO)
C=0.046296/10 (Vietnamese)
C=0.108333/65 (NorthernSweden)
C=0.110572/410 (TWINSUK)
C=0.111627/22892 (GENOGRAPHIC)
C=0.113908/439 (ALSPAC)
C=0.115163/240 (HGDP_Stanford)
C=0.116964/524 (Estonian)
C=0.119517/31635 (TOPMED)
C=0.121095/16980 (GnomAD)
C=0.121406/76 (Chileans)
C=0.12315/233 (HapMap)
C=0.125/5 (GENOME_DK)
C=0.130075/651 (1000Genomes)
C=0.130261/130 (GoNL)
C=0.162162/12 (PRJEB36033)
C=0.166667/36 (Qatari)
T=0.375/54 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000017.11:g.57835609T>C, NC_000017.10:g.55912970T>C, NM_016070.4:c.*4174A>G

Select item 137306919.

rs1373069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:57835634 (GRCh38)
17:55912995 (GRCh37)
Canonical SPDI:: NC_000017.11:57835633:A:C,NC_000017.11:57835633:A:T
Gene:: MRPS23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00487/40 (ALFA)
A=0./0 (GENOME_DK)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (Vietnamese)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.000341/1 (KOREAN)
A=0.003584/2 (SGDP_PRJ)
A=0.009259/2 (Qatari)
A=0.015823/5 (HapMap)
A=0.020632/2894 (GnomAD)
A=0.021157/5600 (TOPMED)
A=0.024047/120 (1000Genomes)
HGVS:: NC_000017.11:g.57835634A>C, NC_000017.11:g.57835634A>T, NC_000017.10:g.55912995A>C, NC_000017.10:g.55912995A>T, NM_016070.4:c.*4149T>G, NM_016070.4:c.*4149T>A

Select item 159631520.

rs1596315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:57837921 (GRCh38)
17:55915282 (GRCh37)
Canonical SPDI:: NC_000017.11:57837920:G:A
Gene:: MRPS23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.249703/10522 (ALFA)
G=0.075/3 (GENOME_DK)
G=0.095238/20 (Vietnamese)
G=0.152174/77 (SGDP_PRJ)
G=0.201667/121 (NorthernSweden)
G=0.203795/913 (Estonian)
G=0.222222/12 (Siberian)
G=0.222222/48 (Qatari)
G=0.226537/840 (TWINSUK)
G=0.239751/924 (ALSPAC)
G=0.246493/246 (GoNL)
G=0.264192/484 (Korea1K)
G=0.270124/4527 (TOMMO)
G=0.277133/812 (KOREAN)
G=0.278107/1393 (1000Genomes)
G=0.291393/40661 (GnomAD)
G=0.291889/77260 (TOPMED)
G=0.30303/100 (HapMap)
HGVS:: NC_000017.11:g.57837921G>A, NC_000017.10:g.55915282G>A, NM_016070.4:c.*1862C>T

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