SNP Links for Gene (Select 448831) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:190024265 (GRCh38)
4:190945420 (GRCh37)
Canonical SPDI:: NC_000004.12:190024264:G:A
Gene:: FRG2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.190024265G>A, NC_000004.11:g.190945420G>A, NT_187650.1:g.361796G>A, NW_003571034.1:g.117195G>A, NW_015495300.1:g.116853G>A, NT_167222.1:g.29236G>A, NW_015495301.1:g.116853G>A

Select item 14899547296.

rs1489954729 [Homo sapiens]

Variant type:: DEL
Alleles:: TCT>- [Show Flanks]
Chromosome:: 4:190025004 (GRCh38)
4:190946159 (GRCh37)
Canonical SPDI:: NC_000004.12:190025003:TCT:
Gene:: FRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.190025004_190025006del, NC_000004.11:g.190946159_190946161del, NT_187650.1:g.362535_362537del, NW_003571034.1:g.117934_117936del, NW_015495300.1:g.117592_117594del, NT_167222.1:g.29975_29977del, NW_015495301.1:g.117592_117594del, NM_001005217.4:c.*555_*557del, NM_001005217.3:c.*555_*557del, NM_001005217.2:c.*555_*557del, NM_001005217.1:c.*555_*557del, NM_001286820.2:c.*555_*557del, NM_001286820.1:c.*555_*557del, NM_001199232.1:c.*553_*555del

Select item 14890605827.

rs1489060582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:190027718 (GRCh38)
4:190948873 (GRCh37)
Canonical SPDI:: NC_000004.12:190027717:T:A
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.190027718T>A, NC_000004.11:g.190948873T>A, NT_187650.1:g.365249T>A, NW_003571034.1:g.120648T>A, NW_015495300.1:g.120304T>A, NT_167222.1:g.32687T>A, NW_015495301.1:g.120304T>A

Select item 14889482998.

rs1488948299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:190027401 (GRCh38)
4:190948556 (GRCh37)
Canonical SPDI:: NC_000004.12:190027400:C:A,NC_000004.12:190027400:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000409/48 (GnomAD)
A=0.000604/160 (TOPMED)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000004.12:g.190027401C>A, NC_000004.12:g.190027401C>T, NC_000004.11:g.190948556C>A, NC_000004.11:g.190948556C>T, NT_187650.1:g.364932C>A, NT_187650.1:g.364932C>T, NW_003571034.1:g.120331C>A, NW_003571034.1:g.120331C>T, NW_015495300.1:g.119987C>A, NW_015495300.1:g.119987C>T, NT_167222.1:g.32370C>A, NT_167222.1:g.32370C>T, NW_015495301.1:g.119987C>A, NW_015495301.1:g.119987C>T

Select item 14888957919.

rs1488895791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:190026342 (GRCh38)
4:190947497 (GRCh37)
Canonical SPDI:: NC_000004.12:190026341:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.190026342C>T, NC_000004.11:g.190947497C>T, NT_187650.1:g.363873C>T, NW_003571034.1:g.119272C>T, NW_015495300.1:g.118928C>T, NT_167222.1:g.31311C>T, NW_015495301.1:g.118928C>T

Select item 148884553110.

rs1488845531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:190026679 (GRCh38)
4:190947834 (GRCh37)
Canonical SPDI:: NC_000004.12:190026678:G:C
Gene:: FRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.190026679G>C, NC_000004.11:g.190947834G>C, NT_187650.1:g.364210G>C, NW_003571034.1:g.119609G>C, NW_015495300.1:g.119265G>C, NT_167222.1:g.31648G>C, NW_015495301.1:g.119265G>C

Select item 148808051911.

rs1488080519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190027316 (GRCh38)
4:190948471 (GRCh37)
Canonical SPDI:: NC_000004.12:190027315:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000046/5 (GnomAD)
HGVS:: NC_000004.12:g.190027316T>C, NC_000004.11:g.190948471T>C, NT_187650.1:g.364847T>C, NW_003571034.1:g.120246T>C, NW_015495300.1:g.119902T>C, NT_167222.1:g.32285T>C, NW_015495301.1:g.119902T>C

Select item 148786031812.

rs1487860318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:190026285 (GRCh38)
4:190947440 (GRCh37)
Canonical SPDI:: NC_000004.12:190026284:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.00019/26 (GnomAD)
T=0.000468/3 (1000Genomes)
T=0.031186/91 (KOREAN)
HGVS:: NC_000004.12:g.190026285C>T, NC_000004.11:g.190947440C>T, NT_187650.1:g.363816C>T, NW_003571034.1:g.119215C>T, NW_015495300.1:g.118871C>T, NT_167222.1:g.31254C>T, NW_015495301.1:g.118871C>T

Select item 148709522213.

rs1487095222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:190026818 (GRCh38)
4:190947973 (GRCh37)
Canonical SPDI:: NC_000004.12:190026817:A:G
Gene:: FRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.190026818A>G, NC_000004.11:g.190947973A>G, NT_187650.1:g.364349A>G, NW_003571034.1:g.119748A>G, NW_015495300.1:g.119404A>G, NT_167222.1:g.31787A>G, NW_015495301.1:g.119404A>G

Select item 148566897214.

rs1485668972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:190028241 (GRCh38)
4:190949396 (GRCh37)
Canonical SPDI:: NC_000004.12:190028240:G:A
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001096/13 (ALFA)
A=0.000697/97 (GnomAD)
A=0.000781/5 (1000Genomes)
A=0.069225/202 (KOREAN)
HGVS:: NC_000004.12:g.190028241G>A, NC_000004.11:g.190949396G>A, NT_187650.1:g.365772G>A, NW_003571034.1:g.121171G>A, NW_015495300.1:g.120827G>A, NT_167222.1:g.33210G>A, NW_015495301.1:g.120827G>A

Select item 148546272515.

rs1485462725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190025355 (GRCh38)
4:190946510 (GRCh37)
Canonical SPDI:: NC_000004.12:190025354:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00044/1 (KOREAN)
C=0.00312/61 (TOMMO)
HGVS:: NC_000004.12:g.190025355T>C, NC_000004.11:g.190946510T>C, NT_187650.1:g.362886T>C, NW_003571034.1:g.118285T>C, NW_015495300.1:g.117941T>C, NT_167222.1:g.30324T>C, NW_015495301.1:g.117941T>C, NM_001005217.4:c.*206A>G, NM_001005217.3:c.*206A>G, NM_001005217.2:c.*206A>G, NM_001005217.1:c.*206A>G, NM_001286820.2:c.*206A>G, NM_001286820.1:c.*206A>G, NM_001199232.1:c.*206A>G

Select item 148529194916.

rs1485291949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190024509 (GRCh38)
4:190945664 (GRCh37)
Canonical SPDI:: NC_000004.12:190024508:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000004.12:g.190024509T>C, NC_000004.11:g.190945664T>C, NT_187650.1:g.362040T>C, NW_003571034.1:g.117439T>C, NW_015495300.1:g.117097T>C, NT_167222.1:g.29480T>C, NW_015495301.1:g.117097T>C, NM_001005217.4:c.*1052A>G, NM_001005217.3:c.*1052A>G, NM_001005217.2:c.*1052A>G, NM_001005217.1:c.*1052A>G, NM_001286820.2:c.*1052A>G, NM_001286820.1:c.*1052A>G, NM_001199232.1:c.*1050A>G

Select item 148483331917.

rs1484833319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190028619 (GRCh38)
4:190949774 (GRCh37)
Canonical SPDI:: NC_000004.12:190028618:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.190028619T>C, NC_000004.11:g.190949774T>C, NT_187650.1:g.366150T>C, NW_003571034.1:g.121549T>C, NW_015495300.1:g.121205T>C, NT_167222.1:g.33588T>C, NW_015495301.1:g.121205T>C

Select item 148481092218.

rs1484810922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:190028201 (GRCh38)
4:190949356 (GRCh37)
Canonical SPDI:: NC_000004.12:190028200:T:A
Gene:: FRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.190028201T>A, NC_000004.11:g.190949356T>A, NT_187650.1:g.365732T>A, NW_003571034.1:g.121131T>A, NW_015495300.1:g.120787T>A, NT_167222.1:g.33170T>A, NW_015495301.1:g.120787T>A

Select item 148459484719.

rs1484594847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:190027250 (GRCh38)
4:190948405 (GRCh37)
Canonical SPDI:: NC_000004.12:190027249:A:G
Gene:: FRG2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.190027250A>G, NC_000004.11:g.190948405A>G, NT_187650.1:g.364781A>G, NW_003571034.1:g.120180A>G, NW_015495300.1:g.119836A>G, NT_167222.1:g.32219A>G, NW_015495301.1:g.119836A>G, NM_001005217.4:c.-46T>C, NM_001005217.3:c.-46T>C, NM_001005217.2:c.-46T>C, NM_001005217.1:c.-46T>C, NM_001286820.2:c.-46T>C, NM_001286820.1:c.-46T>C, NM_001199232.1:c.-46T>C

Select item 148397289320.

rs1483972893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:190023891 (GRCh38)
4:190945046 (GRCh37)
Canonical SPDI:: NC_000004.12:190023890:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.190023891C>T, NC_000004.11:g.190945046C>T, NT_187650.1:g.361422C>T, NW_003571034.1:g.116821C>T, NW_015495300.1:g.116479C>T, NT_167222.1:g.28862C>T, NW_015495301.1:g.116479C>T

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