"human"[ORGN] and MPG - SNP

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Select item 22666051.

rs2266605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:79493 (GRCh38)
16:129492 (GRCh37)
Canonical SPDI:: NC_000016.10:79492:C:A,NC_000016.10:79492:C:G,NC_000016.10:79492:C:T
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000644/23 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.001861/223 (ExAC)
T=0.005861/821 (GnomAD)
T=0.006536/85 (GoESP)
T=0.007808/39 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79493C>A, NC_000016.10:g.79493C>G, NC_000016.10:g.79493C>T, NC_000016.9:g.129492C>A, NC_000016.9:g.129492C>G, NC_000016.9:g.129492C>T, NM_002434.4:c.108C>A, NM_002434.4:c.108C>G, NM_002434.4:c.108C>T, NM_002434.3:c.108C>A, NM_002434.3:c.108C>G, NM_002434.3:c.108C>T, NM_001015054.3:c.57C>A, NM_001015054.3:c.57C>G, NM_001015054.3:c.57C>T, NM_001015054.2:c.57C>A, NM_001015054.2:c.57C>G, NM_001015054.2:c.57C>T, NM_001015052.3:c.93C>A, NM_001015052.3:c.93C>G, NM_001015052.3:c.93C>T, NM_001015052.2:c.93C>A, NM_001015052.2:c.93C>G, NM_001015052.2:c.93C>T, NP_002425.2:p.Asp36Glu, NP_002425.2:p.Asp36Glu, NP_001015054.1:p.Asp19Glu, NP_001015054.1:p.Asp19Glu, NP_001015052.1:p.Asp31Glu, NP_001015052.1:p.Asp31Glu

Select item 22666062.

rs2266606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:79589 (GRCh38)
16:129588 (GRCh37)
Canonical SPDI:: NC_000016.10:79588:G:A,NC_000016.10:79588:G:C,NC_000016.10:79588:G:T
Gene:: MPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00036/16 (ALFA)
A=0./0 (TWINSUK)
A=0.00026/1 (ALSPAC)
A=0.00034/1 (KOREAN)
A=0.00216/178 (ExAC)
A=0.00593/77 (GoESP)
A=0.00718/36 (1000Genomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79589G>A, NC_000016.10:g.79589G>C, NC_000016.10:g.79589G>T, NC_000016.9:g.129588G>A, NC_000016.9:g.129588G>C, NC_000016.9:g.129588G>T, NM_002434.4:c.204G>A, NM_002434.4:c.204G>C, NM_002434.4:c.204G>T, NM_002434.3:c.204G>A, NM_002434.3:c.204G>C, NM_002434.3:c.204G>T, NM_001015054.3:c.153G>A, NM_001015054.3:c.153G>C, NM_001015054.3:c.153G>T, NM_001015054.2:c.153G>A, NM_001015054.2:c.153G>C, NM_001015054.2:c.153G>T, NM_001015052.3:c.189G>A, NM_001015052.3:c.189G>C, NM_001015052.3:c.189G>T, NM_001015052.2:c.189G>A, NM_001015052.2:c.189G>C, NM_001015052.2:c.189G>T

Select item 31763843.

rs3176384 has merged into rs2266605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:79493 (GRCh38)
16:129492 (GRCh37)
Canonical SPDI:: NC_000016.10:79492:C:A,NC_000016.10:79492:C:G,NC_000016.10:79492:C:T
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000644/23 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.001861/223 (ExAC)
T=0.005861/821 (GnomAD)
T=0.006536/85 (GoESP)
T=0.007808/39 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79493C>A, NC_000016.10:g.79493C>G, NC_000016.10:g.79493C>T, NC_000016.9:g.129492C>A, NC_000016.9:g.129492C>G, NC_000016.9:g.129492C>T, NM_002434.4:c.108C>A, NM_002434.4:c.108C>G, NM_002434.4:c.108C>T, NM_002434.3:c.108C>A, NM_002434.3:c.108C>G, NM_002434.3:c.108C>T, NM_001015054.3:c.57C>A, NM_001015054.3:c.57C>G, NM_001015054.3:c.57C>T, NM_001015054.2:c.57C>A, NM_001015054.2:c.57C>G, NM_001015054.2:c.57C>T, NM_001015052.3:c.93C>A, NM_001015052.3:c.93C>G, NM_001015052.3:c.93C>T, NM_001015052.2:c.93C>A, NM_001015052.2:c.93C>G, NM_001015052.2:c.93C>T, NP_002425.2:p.Asp36Glu, NP_002425.2:p.Asp36Glu, NP_001015054.1:p.Asp19Glu, NP_001015054.1:p.Asp19Glu, NP_001015052.1:p.Asp31Glu, NP_001015052.1:p.Asp31Glu

Select item 31763864.

rs3176386 has merged into rs2266606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:79589 (GRCh38)
16:129588 (GRCh37)
Canonical SPDI:: NC_000016.10:79588:G:A,NC_000016.10:79588:G:C,NC_000016.10:79588:G:T
Gene:: MPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00036/16 (ALFA)
A=0./0 (TWINSUK)
A=0.00026/1 (ALSPAC)
A=0.00034/1 (KOREAN)
A=0.00216/178 (ExAC)
A=0.00593/77 (GoESP)
A=0.00718/36 (1000Genomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79589G>A, NC_000016.10:g.79589G>C, NC_000016.10:g.79589G>T, NC_000016.9:g.129588G>A, NC_000016.9:g.129588G>C, NC_000016.9:g.129588G>T, NM_002434.4:c.204G>A, NM_002434.4:c.204G>C, NM_002434.4:c.204G>T, NM_002434.3:c.204G>A, NM_002434.3:c.204G>C, NM_002434.3:c.204G>T, NM_001015054.3:c.153G>A, NM_001015054.3:c.153G>C, NM_001015054.3:c.153G>T, NM_001015054.2:c.153G>A, NM_001015054.2:c.153G>C, NM_001015054.2:c.153G>T, NM_001015052.3:c.189G>A, NM_001015052.3:c.189G>C, NM_001015052.3:c.189G>T, NM_001015052.2:c.189G>A, NM_001015052.2:c.189G>C, NM_001015052.2:c.189G>T

Select item 256715.

rs25671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:79663 (GRCh38)
16:129662 (GRCh37)
Canonical SPDI:: NC_000016.10:79662:A:C,NC_000016.10:79662:A:G
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000113/4 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000062/11 (GnomAD_exomes)
G=0.000078/11 (GnomAD)
G=0.000136/4 (ExAC)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.79663A>C, NC_000016.10:g.79663A>G, NC_000016.9:g.129662A>C, NC_000016.9:g.129662A>G, NM_002434.4:c.278A>C, NM_002434.4:c.278A>G, NM_002434.3:c.278A>C, NM_002434.3:c.278A>G, NM_001015054.3:c.227A>C, NM_001015054.3:c.227A>G, NM_001015054.2:c.227A>C, NM_001015054.2:c.227A>G, NM_001015052.3:c.263A>C, NM_001015052.3:c.263A>G, NM_001015052.2:c.263A>C, NM_001015052.2:c.263A>G, NP_002425.2:p.Gln93Pro, NP_002425.2:p.Gln93Arg, NP_001015054.1:p.Gln76Pro, NP_001015054.1:p.Gln76Arg, NP_001015052.1:p.Gln88Pro, NP_001015052.1:p.Gln88Arg

Select item 7100796.

rs710079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:79224 (GRCh38)
16:129223 (GRCh37)
Canonical SPDI:: NC_000016.10:79223:C:T
Gene:: MPG (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.05538/7844 (ALFA)
T=0.007812/35 (Estonian)
T=0.009709/36 (TWINSUK)
T=0.01002/10 (GoNL)
T=0.014271/55 (ALSPAC)
T=0.025/15 (NorthernSweden)
T=0.031835/17 (MGP)
T=0.040248/8254 (GENOGRAPHIC)
T=0.104061/82 (PRJEB37584)
T=0.135514/29 (Vietnamese)
T=0.136846/2294 (TOMMO)
T=0.152293/445 (KOREAN)
T=0.189815/41 (Qatari)
T=0.197985/904 (GoESP)
T=0.22271/31211 (GnomAD)
T=0.240262/63595 (TOPMED)
C=0.25/1 (Siberian)
C=0.285714/52 (SGDP_PRJ)
T=0.304341/1524 (1000Genomes)
T=0.382135/723 (HapMap)
HGVS:: NC_000016.10:g.79224C>T, NC_000016.9:g.129223C>T, NM_002434.4:c.-69C>T, NM_002434.3:c.-69C>T

LitVar

Select item 7100807.

rs710080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:79278 (GRCh38)
16:129277 (GRCh37)
Canonical SPDI:: NC_000016.10:79277:A:G
Gene:: MPG (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.083241/8098 (ALFA)
G=0./0 (PRJEB36033)
G=0.007812/35 (Estonian)
G=0.009978/37 (TWINSUK)
G=0.01002/10 (GoNL)
G=0.014271/55 (ALSPAC)
G=0.025/15 (NorthernSweden)
G=0.037453/20 (MGP)
G=0.040468/8299 (GENOGRAPHIC)
G=0.106616/19497 (GnomAD_exomes)
G=0.138049/2314 (TOMMO)
G=0.152977/447 (KOREAN)
G=0.189815/41 (Qatari)
G=0.197661/6390 (ExAC)
G=0.214219/2772 (GoESP)
G=0.222813/31238 (GnomAD)
G=0.238484/497 (HGDP_Stanford)
G=0.240413/63635 (TOPMED)
A=0.25/1 (Siberian)
A=0.288043/53 (SGDP_PRJ)
G=0.304966/1527 (1000Genomes)
G=0.382945/723 (HapMap)
HGVS:: NC_000016.10:g.79278A>G, NC_000016.9:g.129277A>G, NM_002434.4:c.-15A>G, NM_002434.3:c.-15A>G

PubMed LitVar

Select item 7100818.

rs710081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:79655 (GRCh38)
16:129654 (GRCh37)
Canonical SPDI:: NC_000016.10:79654:C:T
Gene:: MPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.052944/2608 (ALFA)
T=0.005357/24 (Estonian)
T=0.009018/9 (GoNL)
T=0.009709/36 (TWINSUK)
T=0.013233/51 (ALSPAC)
T=0.025/15 (NorthernSweden)
T=0.02809/15 (MGP)
T=0.095666/17403 (GnomAD_exomes)
T=0.132137/81 (Vietnamese)
T=0.134259/29 (Qatari)
T=0.136952/2295 (TOMMO)
T=0.151608/443 (KOREAN)
T=0.165788/5723 (ExAC)
T=0.169639/2188 (GoESP)
T=0.18339/25701 (GnomAD)
T=0.199505/52807 (TOPMED)
C=0.25/1 (Siberian)
T=0.259213/1298 (1000Genomes)
T=0.301797/571 (HapMap)
C=0.341463/56 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79655C>T, NC_000016.9:g.129654C>T, NM_002434.4:c.270C>T, NM_002434.3:c.270C>T, NM_001015054.3:c.219C>T, NM_001015054.2:c.219C>T, NM_001015052.3:c.255C>T, NM_001015052.2:c.255C>T

Select item 7691919.

rs769191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:85477 (GRCh38)
16:135476 (GRCh37)
Canonical SPDI:: NC_000016.10:85476:C:A,NC_000016.10:85476:C:G,NC_000016.10:85476:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000022/1 (ALFA)
T=0.000836/100 (ExAC)
T=0.001562/8 (1000Genomes)
T=0.001873/1 (MGP)
T=0.002537/33 (GoESP)
T=0.004975/2 (HapMap)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000016.10:g.85477C>A, NC_000016.10:g.85477C>G, NC_000016.10:g.85477C>T, NC_000016.9:g.135476C>A, NC_000016.9:g.135476C>G, NC_000016.9:g.135476C>T, NG_029669.2:g.58196G>T, NG_029669.2:g.58196G>C, NG_029669.2:g.58196G>A, NG_029669.1:g.58223G>T, NG_029669.1:g.58223G>C, NG_029669.1:g.58223G>A, NM_001039476.3:c.*1228G>T, NM_001039476.3:c.*1228G>C, NM_001039476.3:c.*1228G>A, NM_001077350.3:c.*1228G>T, NM_001077350.3:c.*1228G>C, NM_001077350.3:c.*1228G>A, NM_001243249.2:c.*1228G>T, NM_001243249.2:c.*1228G>C, NM_001243249.2:c.*1228G>A, NM_001243248.2:c.*1228G>T, NM_001243248.2:c.*1228G>C, NM_001243248.2:c.*1228G>A, NM_001243247.2:c.*1228G>T, NM_001243247.2:c.*1228G>C, NM_001243247.2:c.*1228G>A, NM_002434.4:c.597C>A, NM_002434.4:c.597C>G, NM_002434.4:c.597C>T, NM_002434.3:c.597C>A, NM_002434.3:c.597C>G, NM_002434.3:c.597C>T, NM_001015054.3:c.546C>A, NM_001015054.3:c.546C>G, NM_001015054.3:c.546C>T, NM_001015054.2:c.546C>A, NM_001015054.2:c.546C>G, NM_001015054.2:c.546C>T, NM_001015052.3:c.582C>A, NM_001015052.3:c.582C>G, NM_001015052.3:c.582C>T, NM_001015052.2:c.582C>A, NM_001015052.2:c.582C>G, NM_001015052.2:c.582C>T

Select item 76919310.

rs769193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85653 (GRCh38)
16:135652 (GRCh37)
Canonical SPDI:: NC_000016.10:85652:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000025/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000051/12 (GnomAD_exomes)
T=0.000059/6 (ExAC)
T=0.000156/1 (1000Genomes)
T=0.00037/29 (PAGE_STUDY)
T=0.002729/5 (Korea1K)
T=0.00308/9 (KOREAN)
T=0.006016/101 (TOMMO)
T=0.006494/4 (HapMap)
HGVS:: NC_000016.10:g.85653C>T, NC_000016.9:g.135652C>T, NG_029669.2:g.58020G>A, NG_029669.1:g.58047G>A, NM_001039476.3:c.*1052G>A, NM_001077350.3:c.*1052G>A, NM_001243249.2:c.*1052G>A, NM_001243248.2:c.*1052G>A, NM_001243247.2:c.*1052G>A, NM_002434.4:c.773C>T, NM_002434.3:c.773C>T, NM_001015054.3:c.722C>T, NM_001015054.2:c.722C>T, NM_001015052.3:c.758C>T, NM_001015052.2:c.758C>T, NP_002425.2:p.Ala258Val, NP_001015054.1:p.Ala241Val, NP_001015052.1:p.Ala253Val

LitVar

Select item 101335811.

rs1013358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:78955 (GRCh38)
16:128954 (GRCh37)
Canonical SPDI:: NC_000016.10:78954:C:A,NC_000016.10:78954:C:G,NC_000016.10:78954:C:T
Gene:: MPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.17217/31273 (ALFA)
G=0./0 (KOREAN)
C=0.06/3 (Siberian)
C=0.075/3 (GENOME_DK)
C=0.125/75 (NorthernSweden)
C=0.135383/502 (TWINSUK)
C=0.141071/632 (Estonian)
C=0.146293/146 (GoNL)
C=0.147379/568 (ALSPAC)
C=0.215812/101 (SGDP_PRJ)
C=0.314815/68 (Qatari)
C=0.320277/44826 (GnomAD)
C=0.336439/89052 (TOPMED)
C=0.393671/311 (PRJEB37584)
C=0.395742/725 (Korea1K)
C=0.396383/6643 (TOMMO)
C=0.416146/2084 (1000Genomes)
C=0.453271/97 (Vietnamese)
C=0.456419/35901 (PAGE_STUDY)
C=0.49894/941 (HapMap)
HGVS:: NC_000016.10:g.78955C>A, NC_000016.10:g.78955C>G, NC_000016.10:g.78955C>T, NC_000016.9:g.128954C>A, NC_000016.9:g.128954C>G, NC_000016.9:g.128954C>T

PubMed

Select item 105076412.

rs1050764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85522 (GRCh38)
16:135521 (GRCh37)
Canonical SPDI:: NC_000016.10:85521:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.85522C>T, NC_000016.9:g.135521C>T, NG_029669.2:g.58151G>A, NG_029669.1:g.58178G>A, NM_001039476.3:c.*1183G>A, NM_001077350.3:c.*1183G>A, NM_001243249.2:c.*1183G>A, NM_001243248.2:c.*1183G>A, NM_001243247.2:c.*1183G>A, NM_002434.4:c.642C>T, NM_002434.3:c.642C>T, NM_001015054.3:c.591C>T, NM_001015054.2:c.591C>T, NM_001015052.3:c.627C>T, NM_001015052.2:c.627C>T

Select item 106143513.

rs1061435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:84442 (GRCh38)
16:134441 (GRCh37)
Canonical SPDI:: NC_000016.10:84441:C:A,NC_000016.10:84441:C:G,NC_000016.10:84441:C:T
Gene:: MPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.283676/2624 (ALFA)
T=0./0 (KOREAN)
C=0.057692/3 (Siberian)
C=0.1/4 (GENOME_DK)
C=0.111667/67 (NorthernSweden)
C=0.137271/509 (TWINSUK)
C=0.143287/143 (GoNL)
C=0.144266/556 (ALSPAC)
C=0.157366/705 (Estonian)
C=0.15748/80 (SGDP_PRJ)
C=0.236111/51 (Qatari)
C=0.267712/4487 (TOMMO)
C=0.284389/521 (Korea1K)
C=0.293834/77775 (TOPMED)
C=0.31168/1561 (1000Genomes)
C=0.349057/74 (Vietnamese)
HGVS:: NC_000016.10:g.84442C>A, NC_000016.10:g.84442C>G, NC_000016.10:g.84442C>T, NC_000016.9:g.134441C>A, NC_000016.9:g.134441C>G, NC_000016.9:g.134441C>T, NG_029669.2:g.59231G>T, NG_029669.2:g.59231G>C, NG_029669.2:g.59231G>A, NG_029669.1:g.59258G>T, NG_029669.1:g.59258G>C, NG_029669.1:g.59258G>A, NM_012075.1:c.*1039T>G, NM_012075.1:c.*1039T>C, NM_012075.1:c.*1039T>A

Select item 106143814.

rs1061438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:84458 (GRCh38)
16:134457 (GRCh37)
Canonical SPDI:: NC_000016.10:84457:A:G,NC_000016.10:84457:A:T
Gene:: MPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.186259/7843 (ALFA)
A=0.074074/4 (Siberian)
A=0.1/4 (GENOME_DK)
A=0.106667/64 (NorthernSweden)
A=0.137271/509 (TWINSUK)
A=0.142285/142 (GoNL)
A=0.143487/553 (ALSPAC)
A=0.157366/705 (Estonian)
A=0.160935/33004 (GENOGRAPHIC)
A=0.163498/86 (SGDP_PRJ)
A=0.226852/49 (Qatari)
A=0.266244/4462 (TOMMO)
A=0.267918/785 (KOREAN)
A=0.272057/38002 (GnomAD)
A=0.27856/73732 (TOPMED)
A=0.280874/514 (Korea1K)
A=0.293098/1468 (1000Genomes)
A=0.349057/74 (Vietnamese)
A=0.368167/687 (HapMap)
HGVS:: NC_000016.10:g.84458A>G, NC_000016.10:g.84458A>T, NC_000016.9:g.134457A>G, NC_000016.9:g.134457A>T, NG_029669.2:g.59215T>C, NG_029669.2:g.59215T>A, NG_029669.1:g.59242T>C, NG_029669.1:g.59242T>A, NM_012075.1:c.*1023C>T, NM_012075.1:c.*1023C>A

Select item 131863415.

rs1318634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:79026 (GRCh38)
16:129025 (GRCh37)
Canonical SPDI:: NC_000016.10:79025:A:G
Gene:: MPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.047316/908 (ALFA)
G=0.007812/35 (Estonian)
G=0.00836/31 (TWINSUK)
G=0.009018/9 (GoNL)
G=0.012974/50 (ALSPAC)
G=0.025/15 (NorthernSweden)
G=0.077898/10921 (GnomAD)
G=0.087219/23086 (TOPMED)
G=0.115741/25 (Qatari)
G=0.137023/2297 (TOMMO)
G=0.146002/731 (1000Genomes)
G=0.149038/31 (Vietnamese)
G=0.152397/445 (KOREAN)
A=0.25/1 (Siberian)
A=0.367089/58 (SGDP_PRJ)
HGVS:: NC_000016.10:g.79026A>G, NC_000016.9:g.129025A>G

Select item 223489016.

rs2234890 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:79267 (GRCh38)
16:129267 (GRCh37)
Canonical SPDI:: NC_000016.10:79267:TTT:TTTT
Gene:: MPG (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.03985/1009 (ALFA)
T=0.007812/35 (Estonian)
T=0.00863/32 (TWINSUK)
T=0.009018/9 (GoNL)
T=0.012455/48 (ALSPAC)
T=0.025/15 (NorthernSweden)
T=0.067661/839 (GoESP)
T=0.07329/12516 (GnomAD_exomes)
T=0.077974/10933 (GnomAD)
T=0.086973/23021 (TOPMED)
T=0.109506/3055 (ExAC)
T=0.136917/2295 (TOMMO)
T=0.146002/731 (1000Genomes)
HGVS:: NC_000016.10:g.79270dup, NC_000016.9:g.129269dup, NM_002434.4:c.-23dup, NM_002434.3:c.-23dup

Select item 223494917.

rs2234949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:85772 (GRCh38)
16:135771 (GRCh37)
Canonical SPDI:: NC_000016.10:85771:G:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000065/1 (ALFA)
T=0./0 (HapMap)
T=0.000021/3 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000062/6 (ExAC)
T=0.000077/13 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85772G>T, NC_000016.9:g.135771G>T, NG_029669.2:g.57901C>A, NG_029669.1:g.57928C>A, NM_001039476.3:c.*933C>A, NM_001077350.3:c.*933C>A, NM_001243249.2:c.*933C>A, NM_001243248.2:c.*933C>A, NM_001243247.2:c.*933C>A, NM_002434.4:c.892G>T, NM_002434.3:c.892G>T, NM_001015054.3:c.841G>T, NM_001015054.2:c.841G>T, NM_001015052.3:c.877G>T, NM_001015052.2:c.877G>T, NP_002425.2:p.Ala298Ser, NP_001015054.1:p.Ala281Ser, NP_001015052.1:p.Ala293Ser

Select item 225927518.

rs2259275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:79532 (GRCh38)
16:129531 (GRCh37)
Canonical SPDI:: NC_000016.10:79531:C:A,NC_000016.10:79531:C:G,NC_000016.10:79531:C:T
Gene:: MPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00011/3 (ALFA)
G=0.00167/1 (NorthernSweden)
G=0.00329/1 (FINRISK)
G=0.00437/22 (1000Genomes)
G=0.00731/95 (GoESP)
HGVS:: NC_000016.10:g.79532C>A, NC_000016.10:g.79532C>G, NC_000016.10:g.79532C>T, NC_000016.9:g.129531C>A, NC_000016.9:g.129531C>G, NC_000016.9:g.129531C>T, NM_002434.4:c.147C>A, NM_002434.4:c.147C>G, NM_002434.4:c.147C>T, NM_002434.3:c.147C>A, NM_002434.3:c.147C>G, NM_002434.3:c.147C>T, NM_001015054.3:c.96C>A, NM_001015054.3:c.96C>G, NM_001015054.3:c.96C>T, NM_001015054.2:c.96C>A, NM_001015054.2:c.96C>G, NM_001015054.2:c.96C>T, NM_001015052.3:c.132C>A, NM_001015052.3:c.132C>G, NM_001015052.3:c.132C>T, NM_001015052.2:c.132C>A, NM_001015052.2:c.132C>G, NM_001015052.2:c.132C>T

PubMed LitVar

Select item 226660719.

rs2266607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:79596 (GRCh38)
16:129595 (GRCh37)
Canonical SPDI:: NC_000016.10:79595:T:C
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.002075/1 (HapMap)
HGVS:: NC_000016.10:g.79596T>C, NC_000016.9:g.129595T>C, NM_002434.4:c.211T>C, NM_002434.3:c.211T>C, NM_001015054.3:c.160T>C, NM_001015054.2:c.160T>C, NM_001015052.3:c.196T>C, NM_001015052.2:c.196T>C, NP_002425.2:p.Tyr71His, NP_001015054.1:p.Tyr54His, NP_001015052.1:p.Tyr66His

Select item 226660820.

rs2266608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:83281 (GRCh38)
16:133280 (GRCh37)
Canonical SPDI:: NC_000016.10:83280:G:A,NC_000016.10:83280:G:C
Gene:: MPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01136/311 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00593/30 (1000Genomes)
C=0.01004/45 (Estonian)
C=0.01389/3 (Qatari)
C=0.01392/181 (GoESP)
C=0.01804/18 (GoNL)
C=0.01807/67 (TWINSUK)
C=0.01816/70 (ALSPAC)
C=0.01833/11 (NorthernSweden)
C=0.01873/10 (MGP)
C=0.05/2 (GENOME_DK)
G=0.5/6 (SGDP_PRJ)
HGVS:: NC_000016.10:g.83281G>A, NC_000016.10:g.83281G>C, NC_000016.9:g.133280G>A, NC_000016.9:g.133280G>C

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