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Select item 14910205341.

rs1491020534 has merged into rs34307683 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:134911352 (GRCh38)
9:137803198 (GRCh37)
Canonical SPDI:: NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:134911342:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000102/27 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000009.12:g.134911352_134911361del, NC_000009.12:g.134911356_134911361del, NC_000009.12:g.134911357_134911361del, NC_000009.12:g.134911358_134911361del, NC_000009.12:g.134911359_134911361del, NC_000009.12:g.134911360_134911361del, NC_000009.12:g.134911361del, NC_000009.12:g.134911361dup, NC_000009.12:g.134911360_134911361dup, NC_000009.12:g.134911359_134911361dup, NC_000009.12:g.134911357_134911361dup, NC_000009.11:g.137803198_137803207del, NC_000009.11:g.137803202_137803207del, NC_000009.11:g.137803203_137803207del, NC_000009.11:g.137803204_137803207del, NC_000009.11:g.137803205_137803207del, NC_000009.11:g.137803206_137803207del, NC_000009.11:g.137803207del, NC_000009.11:g.137803207dup, NC_000009.11:g.137803206_137803207dup, NC_000009.11:g.137803205_137803207dup, NC_000009.11:g.137803203_137803207dup, NG_046982.2:g.11609_11618del, NG_046982.2:g.11613_11618del, NG_046982.2:g.11614_11618del, NG_046982.2:g.11615_11618del, NG_046982.2:g.11616_11618del, NG_046982.2:g.11617_11618del, NG_046982.2:g.11618del, NG_046982.2:g.11618dup, NG_046982.2:g.11617_11618dup, NG_046982.2:g.11616_11618dup, NG_046982.2:g.11614_11618dup

Select item 14909873312.

rs1490987331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:134914188 (GRCh38)
9:137806034 (GRCh37)
Canonical SPDI:: NC_000009.12:134914187:G:C
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.134914188G>C, NC_000009.11:g.137806034G>C, NG_046982.2:g.8773C>G

Select item 14908758313.

rs1490875831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:134916112 (GRCh38)
9:137807958 (GRCh37)
Canonical SPDI:: NC_000009.12:134916111:T:C
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.134916112T>C, NC_000009.11:g.137807958T>C, NG_046982.2:g.6849A>G

Select item 14905464874.

rs1490546487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:134914960 (GRCh38)
9:137806806 (GRCh37)
Canonical SPDI:: NC_000009.12:134914959:A:G
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.134914960A>G, NC_000009.11:g.137806806A>G, NG_046982.2:g.8001T>C

Select item 14901092195.

rs1490109219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:134914707 (GRCh38)
9:137806553 (GRCh37)
Canonical SPDI:: NC_000009.12:134914706:G:C
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.134914707G>C, NC_000009.11:g.137806553G>C, NG_046982.2:g.8254C>G

Select item 14899198576.

rs1489919857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:134908797 (GRCh38)
9:137800643 (GRCh37)
Canonical SPDI:: NC_000009.12:134908796:G:A,NC_000009.12:134908796:G:C
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.0006/10 (TOMMO)
A=0.00068/2 (KOREAN)
HGVS:: NC_000009.12:g.134908797G>A, NC_000009.12:g.134908797G>C, NC_000009.11:g.137800643G>A, NC_000009.11:g.137800643G>C, NG_046982.2:g.14164C>T, NG_046982.2:g.14164C>G, NM_002003.5:c.*1001C>T, NM_002003.5:c.*1001C>G, NM_002003.4:c.*1001C>T, NM_002003.4:c.*1001C>G

Select item 14895010547.

rs1489501054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:134904755 (GRCh38)
9:137796601 (GRCh37)
Canonical SPDI:: NC_000009.12:134904754:G:T
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.134904755G>T, NC_000009.11:g.137796601G>T, NG_046982.2:g.18206C>A, NM_002003.5:c.*5043C>A, NM_002003.4:c.*5043C>A

Select item 14889557508.

rs1488955750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:134916527 (GRCh38)
9:137808373 (GRCh37)
Canonical SPDI:: NC_000009.12:134916526:G:C,NC_000009.12:134916526:G:T
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.134916527G>C, NC_000009.12:g.134916527G>T, NC_000009.11:g.137808373G>C, NC_000009.11:g.137808373G>T, NG_046982.2:g.6434C>G, NG_046982.2:g.6434C>A

Select item 14889247209.

rs1488924720 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:134918620 (GRCh38)
9:137810467 (GRCh37)
Canonical SPDI:: NC_000009.12:134918620::T
Gene:: FCN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.134918620_134918621insT, NC_000009.11:g.137810466_137810467insT, NG_046982.2:g.4340_4341insA

Select item 148890353210.

rs1488903532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:134915380 (GRCh38)
9:137807226 (GRCh37)
Canonical SPDI:: NC_000009.12:134915379:G:C,NC_000009.12:134915379:G:T
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000009.12:g.134915380G>C, NC_000009.12:g.134915380G>T, NC_000009.11:g.137807226G>C, NC_000009.11:g.137807226G>T, NG_046982.2:g.7581C>G, NG_046982.2:g.7581C>A

Select item 148869223611.

rs1488692236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:134903276 (GRCh38)
9:137795122 (GRCh37)
Canonical SPDI:: NC_000009.12:134903275:T:C
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.134903276T>C, NC_000009.11:g.137795122T>C, NG_046982.2:g.19685A>G, NM_002003.5:c.*6522A>G, NM_002003.4:c.*6522A>G

Select item 148840736112.

rs1488407361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:134909541 (GRCh38)
9:137801387 (GRCh37)
Canonical SPDI:: NC_000009.12:134909540:C:A
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.134909541C>A, NC_000009.11:g.137801387C>A, NG_046982.2:g.13420G>T, NM_002003.5:c.*257G>T, NM_002003.4:c.*257G>T

Select item 148834272913.

rs1488342729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:134917202 (GRCh38)
9:137809048 (GRCh37)
Canonical SPDI:: NC_000009.12:134917201:A:G
Gene:: FCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.134917202A>G, NC_000009.11:g.137809048A>G, NG_046982.2:g.5759T>C

Select item 148830149914.

rs1488301499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:134918352 (GRCh38)
9:137810198 (GRCh37)
Canonical SPDI:: NC_000009.12:134918351:G:A
Gene:: FCN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.134918352G>A, NC_000009.11:g.137810198G>A, NG_046982.2:g.4609C>T

Select item 148804867315.

rs1488048673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:134905462 (GRCh38)
9:137797308 (GRCh37)
Canonical SPDI:: NC_000009.12:134905461:T:C
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.134905462T>C, NC_000009.11:g.137797308T>C, NG_046982.2:g.17499A>G, NM_002003.5:c.*4336A>G, NM_002003.4:c.*4336A>G

Select item 148794382616.

rs1487943826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:134904139 (GRCh38)
9:137795985 (GRCh37)
Canonical SPDI:: NC_000009.12:134904138:G:A
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.134904139G>A, NC_000009.11:g.137795985G>A, NG_046982.2:g.18822C>T, NM_002003.5:c.*5659C>T, NM_002003.4:c.*5659C>T

Select item 148781972017.

rs1487819720 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 9:134905858 (GRCh38)
9:137797704 (GRCh37)
Canonical SPDI:: NC_000009.12:134905857:CTCT:
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000009.12:g.134905858_134905861del, NC_000009.11:g.137797704_137797707del, NG_046982.2:g.17100_17103del, NM_002003.5:c.*3937_*3940del, NM_002003.4:c.*3937_*3940del

Select item 148765887618.

rs1487658876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:134915608 (GRCh38)
9:137807454 (GRCh37)
Canonical SPDI:: NC_000009.12:134915607:T:A
Gene:: FCN1 (Varview)
Functional Consequence:: intron_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_000009.12:g.134915608T>A, NC_000009.11:g.137807454T>A, NG_046982.2:g.7353A>T

Select item 148761606419.

rs1487616064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:134904625 (GRCh38)
9:137796471 (GRCh37)
Canonical SPDI:: NC_000009.12:134904624:C:A,NC_000009.12:134904624:C:G,NC_000009.12:134904624:C:T
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.134904625C>A, NC_000009.12:g.134904625C>G, NC_000009.12:g.134904625C>T, NC_000009.11:g.137796471C>A, NC_000009.11:g.137796471C>G, NC_000009.11:g.137796471C>T, NG_046982.2:g.18336G>T, NG_046982.2:g.18336G>C, NG_046982.2:g.18336G>A, NM_002003.5:c.*5173G>T, NM_002003.5:c.*5173G>C, NM_002003.5:c.*5173G>A, NM_002003.4:c.*5173G>T, NM_002003.4:c.*5173G>C, NM_002003.4:c.*5173G>A

Select item 148757496020.

rs1487574960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:134907831 (GRCh38)
9:137799677 (GRCh37)
Canonical SPDI:: NC_000009.12:134907830:T:A
Gene:: FCN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.134907831T>A, NC_000009.11:g.137799677T>A, NG_046982.2:g.15130A>T, NM_002003.5:c.*1967A>T, NM_002003.4:c.*1967A>T

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