IL37 - SNP - NCBI

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Select item 38110471.

rs3811047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:112913833 (GRCh38)
2:113671410 (GRCh37)
Canonical SPDI:: NC_000002.12:112913832:A:G,NC_000002.12:112913832:A:T
Gene:: IL37 (Varview)
Functional Consequence:: missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.303964/109106 (ALFA)
A=0.153595/94 (Vietnamese)
A=0.174684/138 (PRJEB37584)
A=0.179303/525 (KOREAN)
A=0.195215/3272 (TOMMO)
A=0.195415/358 (Korea1K)
A=0.199588/97 (SGDP_PRJ)
A=0.275281/147 (MGP)
A=0.286408/1062 (TWINSUK)
A=0.289193/72399 (GnomAD_exomes)
A=0.293186/611 (HGDP_Stanford)
A=0.296667/178 (NorthernSweden)
A=0.299948/1156 (ALSPAC)
A=0.303795/1361 (Estonian)
A=0.305364/37001 (ExAC)
A=0.333333/16 (Siberian)
A=0.336673/336 (GoNL)
A=0.38/38 (PRJEB36033)
A=0.390069/1953 (1000Genomes)
A=0.4/16 (GENOME_DK)
A=0.400117/105907 (TOPMED)
A=0.40201/56246 (GnomAD)
A=0.406448/769 (HapMap)
A=0.427418/5559 (GoESP)
A=0.433874/34145 (PAGE_STUDY)
A=0.462963/100 (Qatari)
HGVS:: NC_000002.12:g.112913833A>G, NC_000002.12:g.112913833A>T, NC_000002.11:g.113671410A>G, NC_000002.11:g.113671410A>T, NG_029219.1:g.5863A>G, NG_029219.1:g.5863A>T, NM_014439.4:c.124A>G, NM_014439.4:c.124A>T, NM_014439.3:c.124A>G, NM_014439.3:c.124A>T, NM_173204.2:c.124A>G, NM_173204.2:c.124A>T, NM_173204.1:c.124A>G, NM_173204.1:c.124A>T, NP_055254.2:p.Thr42Ala, NP_055254.2:p.Thr42Ser, NP_775296.1:p.Thr42Ala, NP_775296.1:p.Thr42Ser

PubMed LitVar

Select item 289472002.

rs28947200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112918606 (GRCh38)
2:113676183 (GRCh37)
Canonical SPDI:: NC_000002.12:112918605:C:T
Gene:: IL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000736/151 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.000602/10 (TOMMO)
T=0.001092/2 (Korea1K)
T=0.001369/4 (KOREAN)
T=0.001667/1 (NorthernSweden)
T=0.001735/436 (GnomAD_exomes)
T=0.001946/236 (ExAC)
T=0.004464/20 (Estonian)
T=0.005834/818 (GnomAD)
T=0.006049/1601 (TOPMED)
T=0.006459/84 (GoESP)
T=0.006579/2 (FINRISK)
T=0.007964/40 (1000Genomes)
T=0.009364/737 (PAGE_STUDY)
T=0.021341/28 (HapMap)
C=0.5/1 (Siberian)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112918606C>T, NC_000002.11:g.113676183C>T, NG_029219.1:g.10636C>T, NM_014439.4:c.454C>T, NM_014439.3:c.454C>T, NM_173202.2:c.391C>T, NM_173202.1:c.391C>T, NM_173204.2:c.334C>T, NM_173204.1:c.334C>T, NM_173203.2:c.271C>T, NM_173203.1:c.271C>T, NM_173205.2:c.376C>T, NM_173205.1:c.376C>T, NP_055254.2:p.Arg152Trp, NP_775294.1:p.Arg131Trp, NP_775296.1:p.Arg112Trp, NP_775295.1:p.Arg91Trp, NP_775297.1:p.Arg126Trp

PubMed

Select item 1393545513.

rs139354551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:112917258 (GRCh38)
2:113674835 (GRCh37)
Canonical SPDI:: NC_000002.12:112917257:A:C
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001752/41 (ALFA)
C=0.000625/3 (1000Genomes)
C=0.001076/14 (GoESP)
C=0.001216/305 (GnomAD_exomes)
C=0.001248/151 (ExAC)
C=0.001341/355 (TOPMED)
C=0.001355/190 (GnomAD)
C=0.002427/9 (TWINSUK)
C=0.002595/10 (ALSPAC)
C=0.004008/4 (GoNL)
C=0.013109/7 (MGP)
HGVS:: NC_000002.12:g.112917258A>C, NC_000002.11:g.113674835A>C, NG_029219.1:g.9288A>C

Select item 7508338674.

rs750833867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112918682 (GRCh38)
2:113676259 (GRCh37)
Canonical SPDI:: NC_000002.12:112918681:T:C
Gene:: IL37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.112918682T>C, NC_000002.11:g.113676259T>C, NG_029219.1:g.10712T>C, NM_014439.4:c.530T>C, NM_014439.3:c.530T>C, NM_173202.2:c.467T>C, NM_173202.1:c.467T>C, NM_173204.2:c.410T>C, NM_173204.1:c.410T>C, NM_173203.2:c.347T>C, NM_173203.1:c.347T>C, NM_173205.2:c.452T>C, NM_173205.1:c.452T>C, NP_055254.2:p.Ile177Thr, NP_775294.1:p.Ile156Thr, NP_775296.1:p.Ile137Thr, NP_775295.1:p.Ile116Thr, NP_775297.1:p.Ile151Thr

Select item 572847035.

rs57284703 has merged into rs3811047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:112913833 (GRCh38)
2:113671410 (GRCh37)
Canonical SPDI:: NC_000002.12:112913832:A:G,NC_000002.12:112913832:A:T
Gene:: IL37 (Varview)
Functional Consequence:: missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.303964/109106 (ALFA)
A=0.153595/94 (Vietnamese)
A=0.174684/138 (PRJEB37584)
A=0.179303/525 (KOREAN)
A=0.195215/3272 (TOMMO)
A=0.195415/358 (Korea1K)
A=0.199588/97 (SGDP_PRJ)
A=0.275281/147 (MGP)
A=0.286408/1062 (TWINSUK)
A=0.289193/72399 (GnomAD_exomes)
A=0.293186/611 (HGDP_Stanford)
A=0.296667/178 (NorthernSweden)
A=0.299948/1156 (ALSPAC)
A=0.303795/1361 (Estonian)
A=0.305364/37001 (ExAC)
A=0.333333/16 (Siberian)
A=0.336673/336 (GoNL)
A=0.38/38 (PRJEB36033)
A=0.390069/1953 (1000Genomes)
A=0.4/16 (GENOME_DK)
A=0.400117/105907 (TOPMED)
A=0.40201/56246 (GnomAD)
A=0.406448/769 (HapMap)
A=0.427418/5559 (GoESP)
A=0.433874/34145 (PAGE_STUDY)
A=0.462963/100 (Qatari)
HGVS:: NC_000002.12:g.112913833A>G, NC_000002.12:g.112913833A>T, NC_000002.11:g.113671410A>G, NC_000002.11:g.113671410A>T, NG_029219.1:g.5863A>G, NG_029219.1:g.5863A>T, NM_014439.4:c.124A>G, NM_014439.4:c.124A>T, NM_014439.3:c.124A>G, NM_014439.3:c.124A>T, NM_173204.2:c.124A>G, NM_173204.2:c.124A>T, NM_173204.1:c.124A>G, NM_173204.1:c.124A>T, NP_055254.2:p.Thr42Ala, NP_055254.2:p.Thr42Ser, NP_775296.1:p.Thr42Ala, NP_775296.1:p.Thr42Ser

Select item 528283426.

rs52828342 has merged into rs3811047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:112913833 (GRCh38)
2:113671410 (GRCh37)
Canonical SPDI:: NC_000002.12:112913832:A:G,NC_000002.12:112913832:A:T
Gene:: IL37 (Varview)
Functional Consequence:: missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.303964/109106 (ALFA)
A=0.153595/94 (Vietnamese)
A=0.174684/138 (PRJEB37584)
A=0.179303/525 (KOREAN)
A=0.195215/3272 (TOMMO)
A=0.195415/358 (Korea1K)
A=0.199588/97 (SGDP_PRJ)
A=0.275281/147 (MGP)
A=0.286408/1062 (TWINSUK)
A=0.289193/72399 (GnomAD_exomes)
A=0.293186/611 (HGDP_Stanford)
A=0.296667/178 (NorthernSweden)
A=0.299948/1156 (ALSPAC)
A=0.303795/1361 (Estonian)
A=0.305364/37001 (ExAC)
A=0.333333/16 (Siberian)
A=0.336673/336 (GoNL)
A=0.38/38 (PRJEB36033)
A=0.390069/1953 (1000Genomes)
A=0.4/16 (GENOME_DK)
A=0.400117/105907 (TOPMED)
A=0.40201/56246 (GnomAD)
A=0.406448/769 (HapMap)
A=0.427418/5559 (GoESP)
A=0.433874/34145 (PAGE_STUDY)
A=0.462963/100 (Qatari)
HGVS:: NC_000002.12:g.112913833A>G, NC_000002.12:g.112913833A>T, NC_000002.11:g.113671410A>G, NC_000002.11:g.113671410A>T, NG_029219.1:g.5863A>G, NG_029219.1:g.5863A>T, NM_014439.4:c.124A>G, NM_014439.4:c.124A>T, NM_014439.3:c.124A>G, NM_014439.3:c.124A>T, NM_173204.2:c.124A>G, NM_173204.2:c.124A>T, NM_173204.1:c.124A>G, NM_173204.1:c.124A>T, NP_055254.2:p.Thr42Ala, NP_055254.2:p.Thr42Ser, NP_775296.1:p.Thr42Ala, NP_775296.1:p.Thr42Ser

Select item 24649117.

rs2464911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112916008 (GRCh38)
2:113673585 (GRCh37)
Canonical SPDI:: NC_000002.12:112916007:A:G
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.095089/1553 (ALFA)
G=0.000546/1 (Korea1K)
G=0.074074/16 (Qatari)
G=0.07567/339 (Estonian)
G=0.079482/398 (1000Genomes)
G=0.088176/88 (GoNL)
G=0.098333/59 (NorthernSweden)
G=0.1/4 (GENOME_DK)
G=0.100995/14152 (GnomAD)
G=0.101266/26804 (TOPMED)
A=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112916008A>G, NC_000002.11:g.113673585A>G, NG_029219.1:g.8038A>G

Select item 24649128.

rs2464912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112914902 (GRCh38)
2:113672479 (GRCh37)
Canonical SPDI:: NC_000002.12:112914901:C:G,NC_000002.12:112914901:C:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.038159/717 (ALFA)
T=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.06877/255 (TWINSUK)
G=0.074074/16 (Qatari)
G=0.076116/341 (Estonian)
G=0.077841/300 (ALSPAC)
G=0.080575/404 (1000Genomes)
G=0.088176/88 (GoNL)
G=0.098333/59 (NorthernSweden)
G=0.101987/26995 (TOPMED)
C=0.375/3 (Siberian)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112914902C>G, NC_000002.12:g.112914902C>T, NC_000002.11:g.113672479C>G, NC_000002.11:g.113672479C>T, NG_029219.1:g.6932C>G, NG_029219.1:g.6932C>T

Select item 24649139.

rs2464913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112913559 (GRCh38)
2:113671136 (GRCh37)
Canonical SPDI:: NC_000002.12:112913558:C:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.089286/2620 (ALFA)
T=0.000546/1 (Korea1K)
T=0.055911/35 (Chileans)
T=0.06877/255 (TWINSUK)
T=0.069444/15 (Qatari)
T=0.076116/341 (Estonian)
T=0.077764/389 (1000Genomes)
T=0.077841/300 (ALSPAC)
T=0.088176/88 (GoNL)
T=0.096341/158 (HapMap)
T=0.098333/59 (NorthernSweden)
T=0.099342/13927 (GnomAD)
T=0.099547/26349 (TOPMED)
T=0.125/5 (GENOME_DK)
C=0.375/3 (Siberian)
C=0.462963/25 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112913559C>T, NC_000002.11:g.113671136C>T, NG_029219.1:g.5589C>T

Select item 246644810.

rs2466448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112913621 (GRCh38)
2:113671198 (GRCh37)
Canonical SPDI:: NC_000002.12:112913620:T:C
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.089378/2622 (ALFA)
C=0.000546/1 (Korea1K)
C=0.054313/34 (Chileans)
C=0.067416/36 (MGP)
C=0.06877/255 (TWINSUK)
C=0.069444/15 (Qatari)
C=0.075893/340 (Estonian)
C=0.077764/389 (1000Genomes)
C=0.077841/300 (ALSPAC)
C=0.088176/88 (GoNL)
C=0.096341/158 (HapMap)
C=0.098333/59 (NorthernSweden)
C=0.099394/13934 (GnomAD)
C=0.099535/26346 (TOPMED)
C=0.125/5 (GENOME_DK)
T=0.375/3 (Siberian)
T=0.462963/25 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112913621T>C, NC_000002.11:g.113671198T>C, NG_029219.1:g.5651T>C

Select item 246644911.

rs2466449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:112913437 (GRCh38)
2:113671014 (GRCh37)
Canonical SPDI:: NC_000002.12:112913436:G:A,NC_000002.12:112913436:G:C,NC_000002.12:112913436:G:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.037851/715 (ALFA)
G=0./0 (GENOME_DK)
T=0./0 (KOREAN)
G=0./0 (Siberian)
G=0.001116/5 (Estonian)
G=0.001297/5 (ALSPAC)
G=0.001348/5 (TWINSUK)
G=0.001667/1 (NorthernSweden)
G=0.037037/8 (Qatari)
G=0.065934/36 (SGDP_PRJ)
G=0.067172/9413 (GnomAD)
G=0.073747/19520 (TOPMED)
G=0.118832/595 (1000Genomes)
G=0.143686/2408 (TOMMO)
G=0.158843/291 (Korea1K)
HGVS:: NC_000002.12:g.112913437G>A, NC_000002.12:g.112913437G>C, NC_000002.12:g.112913437G>T, NC_000002.11:g.113671014G>A, NC_000002.11:g.113671014G>C, NC_000002.11:g.113671014G>T, NG_029219.1:g.5467G>A, NG_029219.1:g.5467G>C, NG_029219.1:g.5467G>T

PubMed

Select item 246645012.

rs2466450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112913436 (GRCh38)
2:113671013 (GRCh37)
Canonical SPDI:: NC_000002.12:112913435:A:G
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.093681/1530 (ALFA)
G=0.000546/1 (Korea1K)
G=0.062837/233 (TWINSUK)
G=0.069444/15 (Qatari)
G=0.071614/276 (ALSPAC)
G=0.075893/340 (Estonian)
G=0.077764/389 (1000Genomes)
G=0.098333/59 (NorthernSweden)
G=0.099249/13912 (GnomAD)
G=0.099539/26347 (TOPMED)
G=0.1/4 (GENOME_DK)
A=0.375/3 (Siberian)
A=0.462963/25 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112913436A>G, NC_000002.11:g.113671013A>G, NG_029219.1:g.5466A>G

PubMed

Select item 246645113.

rs2466451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:112916019 (GRCh38)
2:113673596 (GRCh37)
Canonical SPDI:: NC_000002.12:112916018:G:A,NC_000002.12:112916018:G:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.036112/610 (ALFA)
A=0.000546/1 (Korea1K)
A=0.074074/16 (Qatari)
A=0.075893/340 (Estonian)
A=0.079482/398 (1000Genomes)
A=0.088176/88 (GoNL)
A=0.098333/59 (NorthernSweden)
A=0.101337/26823 (TOPMED)
A=0.101341/14204 (GnomAD)
A=0.102372/8054 (PAGE_STUDY)
G=0.375/3 (Siberian)
G=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112916019G>A, NC_000002.12:g.112916019G>T, NC_000002.11:g.113673596G>A, NC_000002.11:g.113673596G>T, NG_029219.1:g.8049G>A, NG_029219.1:g.8049G>T

Select item 270893814.

rs2708938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:112914857 (GRCh38)
2:113672434 (GRCh37)
Canonical SPDI:: NC_000002.12:112914856:C:G
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.093224/1761 (ALFA)
G=0./0 (HapMap)
G=0.000546/1 (Korea1K)
G=0.06877/255 (TWINSUK)
G=0.074074/16 (Qatari)
G=0.075893/340 (Estonian)
G=0.077841/300 (ALSPAC)
G=0.080575/404 (1000Genomes)
G=0.088176/88 (GoNL)
G=0.098333/59 (NorthernSweden)
G=0.101991/26996 (TOPMED)
G=0.102034/14298 (GnomAD)
C=0.375/3 (Siberian)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112914857C>G, NC_000002.11:g.113672434C>G, NG_029219.1:g.6887C>G

Select item 270893915.

rs2708939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112915089 (GRCh38)
2:113672666 (GRCh37)
Canonical SPDI:: NC_000002.12:112915088:C:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.088042/1767 (ALFA)
T=0.000546/1 (Korea1K)
T=0.06877/255 (TWINSUK)
T=0.074074/16 (Qatari)
T=0.075446/338 (Estonian)
T=0.077841/300 (ALSPAC)
T=0.080575/404 (1000Genomes)
T=0.087174/87 (GoNL)
T=0.098333/59 (NorthernSweden)
T=0.101671/14246 (GnomAD)
T=0.101987/26995 (TOPMED)
T=0.125/5 (GENOME_DK)
C=0.375/3 (Siberian)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112915089C>T, NC_000002.11:g.113672666C>T, NG_029219.1:g.7119C>T

Select item 270894016.

rs2708940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112915313 (GRCh38)
2:113672890 (GRCh37)
Canonical SPDI:: NC_000002.12:112915312:C:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.095701/2164 (ALFA)
T=0.000546/1 (Korea1K)
T=0.065543/35 (MGP)
T=0.068501/254 (TWINSUK)
T=0.074074/16 (Qatari)
T=0.076116/341 (Estonian)
T=0.076877/385 (1000Genomes)
T=0.077841/300 (ALSPAC)
T=0.088176/88 (GoNL)
T=0.098333/59 (NorthernSweden)
T=0.101999/26998 (TOPMED)
T=0.102052/14302 (GnomAD)
T=0.10403/475 (GoESP)
T=0.125/5 (GENOME_DK)
C=0.375/3 (Siberian)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112915313C>T, NC_000002.11:g.113672890C>T, NG_029219.1:g.7343C>T

Select item 270894117.

rs2708941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112915989 (GRCh38)
2:113673566 (GRCh37)
Canonical SPDI:: NC_000002.12:112915988:G:A
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.09515/1860 (ALFA)
A=0.000546/1 (Korea1K)
A=0.066882/248 (TWINSUK)
A=0.074074/16 (Qatari)
A=0.075246/290 (ALSPAC)
A=0.075893/340 (Estonian)
A=0.079482/398 (1000Genomes)
A=0.088176/88 (GoNL)
A=0.098333/59 (NorthernSweden)
A=0.1/4 (GENOME_DK)
A=0.101244/14192 (GnomAD)
A=0.101322/26819 (TOPMED)
A=0.102148/8035 (PAGE_STUDY)
G=0.375/3 (Siberian)
G=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112915989G>A, NC_000002.11:g.113673566G>A, NG_029219.1:g.8019G>A

Select item 270894218.

rs2708942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112916195 (GRCh38)
2:113673772 (GRCh37)
Canonical SPDI:: NC_000002.12:112916194:A:G
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.092863/1754 (ALFA)
G=0.000546/1 (Korea1K)
G=0.06904/256 (TWINSUK)
G=0.074074/16 (Qatari)
G=0.075893/340 (Estonian)
G=0.078101/301 (ALSPAC)
G=0.079482/398 (1000Genomes)
G=0.088176/88 (GoNL)
G=0.098333/59 (NorthernSweden)
G=0.101353/26827 (TOPMED)
G=0.101387/14212 (GnomAD)
G=0.125/5 (GENOME_DK)
A=0.375/3 (Siberian)
A=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112916195A>G, NC_000002.11:g.113673772A>G, NG_029219.1:g.8225A>G

Select item 270894319.

rs2708943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:112917132 (GRCh38)
2:113674709 (GRCh37)
Canonical SPDI:: NC_000002.12:112917131:C:G
Gene:: IL37 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.085837/4423 (ALFA)
G=0.000546/1 (Korea1K)
G=0.067416/36 (MGP)
G=0.068129/17114 (GnomAD_exomes)
G=0.069579/258 (TWINSUK)
G=0.071238/8638 (ExAC)
G=0.074074/16 (Qatari)
G=0.075893/340 (Estonian)
G=0.078101/301 (ALSPAC)
G=0.079482/398 (1000Genomes)
G=0.088176/88 (GoNL)
G=0.098333/59 (NorthernSweden)
G=0.098684/30 (FINRISK)
G=0.101062/26750 (TOPMED)
G=0.101206/14180 (GnomAD)
G=0.10918/1420 (GoESP)
G=0.114286/8 (PRJEB36033)
G=0.121951/40 (HapMap)
G=0.125/5 (GENOME_DK)
C=0.375/3 (Siberian)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112917132C>G, NC_000002.11:g.113674709C>G, NG_029219.1:g.9162C>G, NM_014439.4:c.149C>G, NM_014439.3:c.149C>G, NM_173202.2:c.86C>G, NM_173202.1:c.86C>G, NM_173205.2:c.71C>G, NM_173205.1:c.71C>G, NP_055254.2:p.Pro50Arg, NP_775294.1:p.Pro29Arg, NP_775297.1:p.Pro24Arg

PubMed

Select item 270894420.

rs2708944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:112917310 (GRCh38)
2:113674887 (GRCh37)
Canonical SPDI:: NC_000002.12:112917309:G:T
Gene:: IL37 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.092913/1762 (ALFA)
T=0.000546/1 (Korea1K)
T=0.069579/258 (TWINSUK)
T=0.074074/16 (Qatari)
T=0.074906/40 (MGP)
T=0.075893/340 (Estonian)
T=0.078101/301 (ALSPAC)
T=0.079482/398 (1000Genomes)
T=0.088176/88 (GoNL)
T=0.098333/59 (NorthernSweden)
T=0.101084/26756 (TOPMED)
T=0.101128/14168 (GnomAD)
T=0.125/5 (GENOME_DK)
G=0.375/3 (Siberian)
G=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112917310G>T, NC_000002.11:g.113674887G>T, NG_029219.1:g.9340G>T

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