FGF20 - SNP

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Select item 16898981.

rs1689898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:16993545 (GRCh38)
8:16851054 (GRCh37)
Canonical SPDI:: NC_000008.11:16993544:C:G,NC_000008.11:16993544:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.024828/469 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (GENOME_DK)
T=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Qatari)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0.000539/2 (TWINSUK)
C=0.01083/6 (SGDP_PRJ)
C=0.045459/6374 (GnomAD)
C=0.046568/12326 (TOPMED)
C=0.049656/249 (1000Genomes)
HGVS:: NC_000008.11:g.16993545C>G, NC_000008.11:g.16993545C>T, NC_000008.10:g.16851054C>G, NC_000008.10:g.16851054C>T, NG_015978.1:g.13621G>C, NG_015978.1:g.13621G>A

Select item 16898992.

rs1689899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:16993592 (GRCh38)
8:16851101 (GRCh37)
Canonical SPDI:: NC_000008.11:16993591:C:G
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02504/473 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (GENOME_DK)
C=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Qatari)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0.000539/2 (TWINSUK)
C=0.01083/6 (SGDP_PRJ)
C=0.045935/6437 (GnomAD)
C=0.047149/12480 (TOPMED)
C=0.050125/251 (1000Genomes)
HGVS:: NC_000008.11:g.16993592C>G, NC_000008.10:g.16851101C>G, NG_015978.1:g.13574G>C

Select item 16899003.

rs1689900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:16993614 (GRCh38)
8:16851123 (GRCh37)
Canonical SPDI:: NC_000008.11:16993613:C:A,NC_000008.11:16993613:C:G,NC_000008.11:16993613:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.006973/127 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (GENOME_DK)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Qatari)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0.000223/1 (Estonian)
C=0.000341/1 (KOREAN)
C=0.000539/2 (TWINSUK)
C=0.01083/6 (SGDP_PRJ)
C=0.045942/6436 (GnomAD)
C=0.047153/12481 (TOPMED)
C=0.049969/250 (1000Genomes)
HGVS:: NC_000008.11:g.16993614C>A, NC_000008.11:g.16993614C>G, NC_000008.11:g.16993614C>T, NC_000008.10:g.16851123C>A, NC_000008.10:g.16851123C>G, NC_000008.10:g.16851123C>T, NG_015978.1:g.13552G>T, NG_015978.1:g.13552G>C, NG_015978.1:g.13552G>A

Select item 17210994.

rs1721099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:16993532 (GRCh38)
8:16851041 (GRCh37)
Canonical SPDI:: NC_000008.11:16993531:C:G,NC_000008.11:16993531:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.021626/812 (ALFA)
C=0./0 (ALSPAC)
C=0./0 (GENOME_DK)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Qatari)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0./0 (Vietnamese)
C=0.000341/1 (KOREAN)
C=0.000539/2 (TWINSUK)
C=0.01083/6 (SGDP_PRJ)
C=0.045924/6438 (GnomAD)
C=0.047149/12480 (TOPMED)
C=0.049969/250 (1000Genomes)
C=0.055921/17 (HapMap)
HGVS:: NC_000008.11:g.16993532C>G, NC_000008.11:g.16993532C>T, NC_000008.10:g.16851041C>G, NC_000008.10:g.16851041C>T, NG_015978.1:g.13634G>C, NG_015978.1:g.13634G>A

Select item 17211005.

rs1721100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:16992989 (GRCh38)
8:16850498 (GRCh37)
Canonical SPDI:: NC_000008.11:16992988:C:G,NC_000008.11:16992988:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.327325/5884 (ALFA)
C=0.194444/42 (Qatari)
C=0.252809/135 (MGP)
C=0.278125/1246 (Estonian)
C=0.282609/13 (Siberian)
C=0.296667/178 (NorthernSweden)
C=0.301418/340 (Daghestan)
C=0.302589/1122 (TWINSUK)
C=0.304762/128 (SGDP_PRJ)
C=0.305611/305 (GoNL)
C=0.307992/1187 (ALSPAC)
C=0.325/13 (GENOME_DK)
C=0.352941/12 (PRJEB36033)
C=0.36557/51136 (GnomAD)
C=0.37287/98695 (TOPMED)
C=0.424266/2125 (1000Genomes)
G=0.445961/817 (Korea1K)
C=0.448404/843 (HapMap)
G=0.44982/7539 (TOMMO)
C=0.453271/97 (Vietnamese)
G=0.46041/1349 (KOREAN)
G=0.469388/368 (PRJEB37584)
HGVS:: NC_000008.11:g.16992989C>G, NC_000008.11:g.16992989C>T, NC_000008.10:g.16850498C>G, NC_000008.10:g.16850498C>T, NG_015978.1:g.14177G>C, NG_015978.1:g.14177G>A, NM_019851.3:c.*83G>C, NM_019851.3:c.*83G>A, NM_019851.2:c.*83G>C, NM_019851.2:c.*83G>A

PubMed

Select item 26409016.

rs2640901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 8:16992907 (GRCh38)
8:16850416 (GRCh37)
Canonical SPDI:: NC_000008.11:16992906:A:C,NC_000008.11:16992906:A:G,NC_000008.11:16992906:A:T
Gene:: FGF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.015662/455 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Qatari)
A=0./0 (Siberian)
A=0./0 (TOMMO)
T=0.000341/1 (KOREAN)
A=0.000539/2 (TWINSUK)
A=0.01083/6 (SGDP_PRJ)
A=0.045325/6349 (GnomAD)
A=0.046583/12330 (TOPMED)
A=0.049656/249 (1000Genomes)
G=0.280899/150 (MGP)
HGVS:: NC_000008.11:g.16992907A>C, NC_000008.11:g.16992907A>G, NC_000008.11:g.16992907A>T, NC_000008.10:g.16850416A>C, NC_000008.10:g.16850416A>G, NC_000008.10:g.16850416A>T, NG_015978.1:g.14259T>G, NG_015978.1:g.14259T>C, NG_015978.1:g.14259T>A, NM_019851.3:c.*165T>G, NM_019851.3:c.*165T>C, NM_019851.3:c.*165T>A, NM_019851.2:c.*165T>G, NM_019851.2:c.*165T>C, NM_019851.2:c.*165T>A

Select item 37934057.

rs3793405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:16995699 (GRCh38)
8:16853208 (GRCh37)
Canonical SPDI:: NC_000008.11:16995698:C:G
Gene:: FGF20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000174/7 (ALFA)
G=0.000223/1 (Estonian)
G=0.000414/58 (GnomAD)
G=0.00071/188 (TOPMED)
G=0.001325/332 (GnomAD_exomes)
G=0.001385/168 (ExAC)
G=0.003748/19 (1000Genomes)
G=0.014658/9 (Vietnamese)
G=0.015244/5 (HapMap)
G=0.021834/40 (Korea1K)
G=0.023208/68 (KOREAN)
G=0.035211/590 (TOMMO)
C=0.5/1 (Siberian)
C=0.5/9 (SGDP_PRJ)
HGVS:: NC_000008.11:g.16995699C>G, NC_000008.10:g.16853208C>G, NG_015978.1:g.11467G>C, NM_019851.3:c.346G>C, NM_019851.2:c.346G>C, NP_062825.1:p.Gly116Arg

Select item 69919828.

rs6991982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:16993369 (GRCh38)
8:16850878 (GRCh37)
Canonical SPDI:: NC_000008.11:16993368:T:G
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.051928/3253 (ALFA)
G=0.031396/121 (ALSPAC)
G=0.032064/32 (GoNL)
G=0.032362/120 (TWINSUK)
G=0.035937/161 (Estonian)
G=0.042129/7996 (GnomAD_exomes)
G=0.042763/13 (FINRISK)
G=0.043378/4753 (ExAC)
G=0.05/2 (GENOME_DK)
G=0.055/33 (NorthernSweden)
G=0.064815/14 (Qatari)
G=0.080575/404 (1000Genomes)
G=0.085352/585 (GoESP)
G=0.091156/12776 (GnomAD)
G=0.094118/24912 (TOPMED)
G=0.11054/172 (HapMap)
T=0.428571/12 (SGDP_PRJ)
T=0.5/4 (Siberian)
HGVS:: NC_000008.11:g.16993369T>G, NC_000008.10:g.16850878T>G, NG_015978.1:g.13797A>C

Select item 104481359.

rs10448135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:17001889 (GRCh38)
8:16859398 (GRCh37)
Canonical SPDI:: NC_000008.11:17001888:C:A,NC_000008.11:17001888:C:G,NC_000008.11:17001888:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.238618/4235 (ALFA)
T=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0.000142/2 (TOMMO)
C=0.014151/3 (Vietnamese)
C=0.102273/54 (SGDP_PRJ)
C=0.115553/579 (1000Genomes)
C=0.177532/46991 (TOPMED)
C=0.187835/26256 (GnomAD)
C=0.194444/42 (Qatari)
C=0.196667/118 (NorthernSweden)
C=0.203704/11 (Siberian)
C=0.210825/1636 (ExAC)
C=0.226518/873 (ALSPAC)
C=0.229504/851 (TWINSUK)
C=0.232812/11371 (GnomAD_exomes)
C=0.275/11 (GENOME_DK)
C=0.289286/1296 (Estonian)
HGVS:: NC_000008.11:g.17001889C>A, NC_000008.11:g.17001889C>G, NC_000008.11:g.17001889C>T, NC_000008.10:g.16859398C>A, NC_000008.10:g.16859398C>G, NC_000008.10:g.16859398C>T, NG_015978.1:g.5277G>T, NG_015978.1:g.5277G>C, NG_015978.1:g.5277G>A, NM_019851.3:c.144G>T, NM_019851.3:c.144G>C, NM_019851.3:c.144G>A, NM_019851.2:c.144G>T, NM_019851.2:c.144G>C, NM_019851.2:c.144G>A

Select item 1136631510.

rs11366315 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:16993568 (GRCh38)
8:16851077 (GRCh37)
Canonical SPDI:: NC_000008.11:16993567:TTTTT:TTTT
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.02473/458 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (TOMMO)
T=0./0 (Vietnamese)
T=0.000539/2 (TWINSUK)
T=0.045991/6446 (GnomAD)
T=0.047286/12516 (TOPMED)
T=0.049969/250 (1000Genomes)
HGVS:: NC_000008.11:g.16993572del, NC_000008.10:g.16851081del, NG_015978.1:g.13598del

Select item 1272020811.

rs12720208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:16992890 (GRCh38)
8:16850399 (GRCh37)
Canonical SPDI:: NC_000008.11:16992889:G:A
Gene:: FGF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.075665/7269 (ALFA)
A=0.002729/5 (Korea1K)
A=0.004353/73 (TOMMO)
A=0.004717/1 (Vietnamese)
A=0.004791/14 (KOREAN)
A=0.006313/5 (PRJEB37584)
A=0.007491/4 (MGP)
A=0.013889/3 (Qatari)
A=0.029442/2317 (PAGE_STUDY)
A=0.036071/181 (1000Genomes)
A=0.040915/68 (HapMap)
A=0.046099/52 (Daghestan)
A=0.053432/14143 (TOPMED)
A=0.054839/7683 (GnomAD)
A=0.05558/249 (Estonian)
A=0.058333/35 (NorthernSweden)
A=0.086172/86 (GoNL)
A=0.096548/358 (TWINSUK)
A=0.103529/399 (ALSPAC)
A=0.125/5 (GENOME_DK)
G=0.454545/20 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000008.11:g.16992890G>A, NC_000008.10:g.16850399G>A, NG_015978.1:g.14276C>T, NM_019851.3:c.*182C>T, NM_019851.2:c.*182C>T

PubMed LitVar

Select item 1751489412.

rs17514894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:17001931 (GRCh38)
8:16859440 (GRCh37)
Canonical SPDI:: NC_000008.11:17001930:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.157932/8884 (ALFA)
T=0.000142/2 (TOMMO)
T=0.00974/6 (Vietnamese)
T=0.072611/364 (1000Genomes)
T=0.101852/22 (Qatari)
T=0.113333/68 (NorthernSweden)
T=0.118928/31479 (TOPMED)
T=0.120902/885 (GoESP)
T=0.125052/17502 (GnomAD)
T=0.138237/12388 (GnomAD_exomes)
T=0.158549/1810 (ExAC)
T=0.159385/591 (TWINSUK)
T=0.160872/620 (ALSPAC)
T=0.168224/180 (Daghestan)
T=0.2/8 (GENOME_DK)
T=0.205357/920 (Estonian)
C=0.454545/40 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000008.11:g.17001931C>T, NC_000008.10:g.16859440C>T, NG_015978.1:g.5235G>A, NM_019851.3:c.102G>A, NM_019851.2:c.102G>A

Select item 1751490813.

rs17514908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:17001751 (GRCh38)
8:16859260 (GRCh37)
Canonical SPDI:: NC_000008.11:17001750:G:A,NC_000008.11:17001750:G:C,NC_000008.11:17001750:G:T
Gene:: FGF20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000354/71 (GnomAD_exomes)
T=0.000578/41 (ExAC)
T=0.001551/19 (GoESP)
T=0.003748/19 (1000Genomes)
T=0.003768/294 (PAGE_STUDY)
T=0.015564/16 (HapMap)
HGVS:: NC_000008.11:g.17001751G>A, NC_000008.11:g.17001751G>C, NC_000008.11:g.17001751G>T, NC_000008.10:g.16859260G>A, NC_000008.10:g.16859260G>C, NC_000008.10:g.16859260G>T, NG_015978.1:g.5415C>T, NG_015978.1:g.5415C>G, NG_015978.1:g.5415C>A, NM_019851.3:c.282C>T, NM_019851.3:c.282C>G, NM_019851.3:c.282C>A, NM_019851.2:c.282C>T, NM_019851.2:c.282C>G, NM_019851.2:c.282C>A

Select item 1751529614.

rs17515296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:16993626 (GRCh38)
8:16851135 (GRCh37)
Canonical SPDI:: NC_000008.11:16993625:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.221705/4188 (ALFA)
T=0.148148/32 (Qatari)
T=0.177902/797 (Estonian)
T=0.203333/122 (NorthernSweden)
T=0.210086/779 (TWINSUK)
T=0.215431/215 (GoNL)
T=0.224442/865 (ALSPAC)
T=0.225/9 (GENOME_DK)
T=0.245265/34314 (GnomAD)
T=0.264755/70078 (TOPMED)
T=0.324172/1623 (1000Genomes)
C=0.333333/8 (Siberian)
C=0.362275/121 (SGDP_PRJ)
T=0.37619/79 (Vietnamese)
C=0.453603/831 (Korea1K)
C=0.462559/7752 (TOMMO)
C=0.472696/1385 (KOREAN)
HGVS:: NC_000008.11:g.16993626C>T, NC_000008.10:g.16851135C>T, NG_015978.1:g.13540G>A

Select item 1751531715.

rs17515317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:16993428 (GRCh38)
8:16850937 (GRCh37)
Canonical SPDI:: NC_000008.11:16993427:G:A,NC_000008.11:16993427:G:C,NC_000008.11:16993427:G:T
Gene:: FGF20 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00004/1 (TOMMO)
T=0.02497/1952 (PAGE_STUDY)
T=0.03295/165 (1000Genomes)
T=0.0463/10 (Qatari)
T=0.0807/311 (ALSPAC)
T=0.09018/90 (GoNL)
T=0.09061/336 (TWINSUK)
T=0.09333/56 (NorthernSweden)
T=0.09844/441 (Estonian)
T=0.1/4 (GENOME_DK)
G=0.48077/25 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000008.11:g.16993428G>A, NC_000008.11:g.16993428G>C, NC_000008.11:g.16993428G>T, NC_000008.10:g.16850937G>A, NC_000008.10:g.16850937G>C, NC_000008.10:g.16850937G>T, NG_015978.1:g.13738C>T, NG_015978.1:g.13738C>G, NG_015978.1:g.13738C>A

Select item 1755036016.

rs17550360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:16993092 (GRCh38)
8:16850601 (GRCh37)
Canonical SPDI:: NC_000008.11:16993091:C:A,NC_000008.11:16993091:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002952/869 (ALFA)
T=0.000519/2 (ALSPAC)
T=0.000539/2 (TWINSUK)
T=0.003745/2 (MGP)
T=0.00463/1 (Qatari)
T=0.023357/3273 (GnomAD)
T=0.023374/304 (GoESP)
T=0.030762/154 (1000Genomes)
T=0.037892/2982 (PAGE_STUDY)
T=0.054759/84 (HapMap)
C=0.45/9 (SGDP_PRJ)
HGVS:: NC_000008.11:g.16993092C>A, NC_000008.11:g.16993092C>T, NC_000008.10:g.16850601C>A, NC_000008.10:g.16850601C>T, NG_015978.1:g.14074G>T, NG_015978.1:g.14074G>A, NM_019851.3:c.616G>T, NM_019851.3:c.616G>A, NM_019851.2:c.616G>T, NM_019851.2:c.616G>A, NP_062825.1:p.Asp206Tyr, NP_062825.1:p.Asp206Asn

PubMed LitVar

Select item 37732676317.

rs377326763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:17001798 (GRCh38)
8:16859307 (GRCh37)
Canonical SPDI:: NC_000008.11:17001797:T:C
Gene:: FGF20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000299/7 (ALFA)
C=0.000193/27 (GnomAD)
C=0.000264/70 (TOPMED)
C=0.000304/55 (GnomAD_exomes)
C=0.000595/31 (ExAC)
C=0.001562/8 (1000Genomes)
C=0.003432/10 (KOREAN)
C=0.004945/9 (Korea1K)
C=0.005591/94 (TOMMO)
T=0.3125/10 (SGDP_PRJ)
HGVS:: NC_000008.11:g.17001798T>C, NC_000008.10:g.16859307T>C, NG_015978.1:g.5368A>G, NM_019851.3:c.235A>G, NM_019851.2:c.235A>G, NP_062825.1:p.Ile79Val

Select item 58777728218.

rs587777282 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:16995708 (GRCh38)
8:16853217 (GRCh37)
Canonical SPDI:: NC_000008.11:16995707:C:
Gene:: FGF20 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000008.11:g.16995708del, NC_000008.10:g.16853217del, NG_015978.1:g.11458del, NM_019851.3:c.337del, NM_019851.2:c.337del, NP_062825.1:p.Val113fs

Select item 75770082219.

rs757700822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:16995688 (GRCh38)
8:16853197 (GRCh37)
Canonical SPDI:: NC_000008.11:16995687:A:G
Gene:: FGF20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/1 (ExAC)
G=0.000012/3 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.16995688A>G, NC_000008.10:g.16853197A>G, NG_015978.1:g.11478T>C, NM_019851.3:c.357T>C, NM_019851.2:c.357T>C

Select item 94037195220.

rs940371952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:17001995 (GRCh38)
8:16859504 (GRCh37)
Canonical SPDI:: NC_000008.11:17001994:C:A,NC_000008.11:17001994:C:T
Gene:: FGF20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.17001995C>A, NC_000008.11:g.17001995C>T, NC_000008.10:g.16859504C>A, NC_000008.10:g.16859504C>T, NG_015978.1:g.5171G>T, NG_015978.1:g.5171G>A, NM_019851.3:c.38G>T, NM_019851.3:c.38G>A, NM_019851.2:c.38G>T, NM_019851.2:c.38G>A, NP_062825.1:p.Gly13Val, NP_062825.1:p.Gly13Asp

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