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Select item 14914274471.

rs1491427447 has merged into rs57953786 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:102366628 (GRCh38)
13:103018978 (GRCh37)
Canonical SPDI:: NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:102366618:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.102366628_102366642del, NC_000013.11:g.102366629_102366642del, NC_000013.11:g.102366630_102366642del, NC_000013.11:g.102366631_102366642del, NC_000013.11:g.102366632_102366642del, NC_000013.11:g.102366633_102366642del, NC_000013.11:g.102366634_102366642del, NC_000013.11:g.102366635_102366642del, NC_000013.11:g.102366636_102366642del, NC_000013.11:g.102366637_102366642del, NC_000013.11:g.102366638_102366642del, NC_000013.11:g.102366639_102366642del, NC_000013.11:g.102366640_102366642del, NC_000013.11:g.102366641_102366642del, NC_000013.11:g.102366642del, NC_000013.11:g.102366642dup, NC_000013.11:g.102366641_102366642dup, NC_000013.11:g.102366640_102366642dup, NC_000013.11:g.102366639_102366642dup, NC_000013.11:g.102366638_102366642dup, NC_000013.11:g.102366637_102366642dup, NC_000013.11:g.102366636_102366642dup, NC_000013.11:g.102366635_102366642dup, NC_000013.11:g.102366630_102366642dup, NC_000013.11:g.102366629_102366642dup, NC_000013.11:g.102366626_102366642dup, NC_000013.11:g.102366619_102366642dup, NC_000013.11:g.102366619_102366642A[41]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.103018978_103018992del, NC_000013.10:g.103018979_103018992del, NC_000013.10:g.103018980_103018992del, NC_000013.10:g.103018981_103018992del, NC_000013.10:g.103018982_103018992del, NC_000013.10:g.103018983_103018992del, NC_000013.10:g.103018984_103018992del, NC_000013.10:g.103018985_103018992del, NC_000013.10:g.103018986_103018992del, NC_000013.10:g.103018987_103018992del, NC_000013.10:g.103018988_103018992del, NC_000013.10:g.103018989_103018992del, NC_000013.10:g.103018990_103018992del, NC_000013.10:g.103018991_103018992del, NC_000013.10:g.103018992del, NC_000013.10:g.103018992dup, NC_000013.10:g.103018991_103018992dup, NC_000013.10:g.103018990_103018992dup, NC_000013.10:g.103018989_103018992dup, NC_000013.10:g.103018988_103018992dup, NC_000013.10:g.103018987_103018992dup, NC_000013.10:g.103018986_103018992dup, NC_000013.10:g.103018985_103018992dup, NC_000013.10:g.103018980_103018992dup, NC_000013.10:g.103018979_103018992dup, NC_000013.10:g.103018976_103018992dup, NC_000013.10:g.103018969_103018992dup, NC_000013.10:g.103018969_103018992A[41]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008317.2:g.40142_40156del, NG_008317.2:g.40143_40156del, NG_008317.2:g.40144_40156del, NG_008317.2:g.40145_40156del, NG_008317.2:g.40146_40156del, NG_008317.2:g.40147_40156del, NG_008317.2:g.40148_40156del, NG_008317.2:g.40149_40156del, NG_008317.2:g.40150_40156del, NG_008317.2:g.40151_40156del, NG_008317.2:g.40152_40156del, NG_008317.2:g.40153_40156del, NG_008317.2:g.40154_40156del, NG_008317.2:g.40155_40156del, NG_008317.2:g.40156del, NG_008317.2:g.40156dup, NG_008317.2:g.40155_40156dup, NG_008317.2:g.40154_40156dup, NG_008317.2:g.40153_40156dup, NG_008317.2:g.40152_40156dup, NG_008317.2:g.40151_40156dup, NG_008317.2:g.40150_40156dup, NG_008317.2:g.40149_40156dup, NG_008317.2:g.40144_40156dup, NG_008317.2:g.40143_40156dup, NG_008317.2:g.40140_40156dup, NG_008317.2:g.40133_40156dup, NG_008317.2:g.40133_40156T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14913347902.

rs1491334790 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:102366618 (GRCh38)
13:103018968 (GRCh37)
Canonical SPDI:: NC_000013.11:102366617:CA:
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.102366618_102366619del, NC_000013.10:g.103018968_103018969del, NG_008317.2:g.40156_40157del

Select item 14910593513.

rs1491059351 has merged into rs34438270 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 13:102370949 (GRCh38)
13:103023299 (GRCh37)
Canonical SPDI:: NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1726/640 (TWINSUK)
-=0.17385/670 (ALSPAC)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000013.11:g.102370949_102370950del, NC_000013.11:g.102370950del, NC_000013.11:g.102370950dup, NC_000013.11:g.102370949_102370950dup, NC_000013.11:g.102370948_102370950dup, NC_000013.11:g.102370947_102370950dup, NC_000013.11:g.102370942_102370950dup, NC_000013.10:g.103023299_103023300del, NC_000013.10:g.103023300del, NC_000013.10:g.103023300dup, NC_000013.10:g.103023299_103023300dup, NC_000013.10:g.103023298_103023300dup, NC_000013.10:g.103023297_103023300dup, NC_000013.10:g.103023292_103023300dup, NG_008317.2:g.35837_35838del, NG_008317.2:g.35838del, NG_008317.2:g.35838dup, NG_008317.2:g.35837_35838dup, NG_008317.2:g.35836_35838dup, NG_008317.2:g.35835_35838dup, NG_008317.2:g.35830_35838dup

Select item 14906556864.

rs1490655686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:102366229 (GRCh38)
13:103018579 (GRCh37)
Canonical SPDI:: NC_000013.11:102366228:C:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000106/28 (TOPMED)
G=0.000121/17 (GnomAD)
HGVS:: NC_000013.11:g.102366229C>G, NC_000013.10:g.103018579C>G, NG_008317.2:g.40546G>C

Select item 14906155925.

rs1490615592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102374159 (GRCh38)
13:103026509 (GRCh37)
Canonical SPDI:: NC_000013.11:102374158:C:T
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000091/24 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.002053/6 (KOREAN)
T=0.00361/60 (TOMMO)
T=0.003821/7 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.102374159C>T, NC_000013.10:g.103026509C>T, NG_008317.2:g.32616G>A

Select item 14904305586.

rs1490430558 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:102372721 (GRCh38)
13:103025071 (GRCh37)
Canonical SPDI:: NC_000013.11:102372720:TTTTT:TTTT
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102372725del, NC_000013.10:g.103025075del, NG_008317.2:g.34054del

Select item 14898288227.

rs1489828822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:102366428 (GRCh38)
13:103018778 (GRCh37)
Canonical SPDI:: NC_000013.11:102366427:G:A,NC_000013.11:102366427:G:C
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102366428G>A, NC_000013.11:g.102366428G>C, NC_000013.10:g.103018778G>A, NC_000013.10:g.103018778G>C, NG_008317.2:g.40347C>T, NG_008317.2:g.40347C>G

Select item 14896778838.

rs1489677883 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAA>- [Show Flanks]
Chromosome:: 13:102366895 (GRCh38)
13:103019245 (GRCh37)
Canonical SPDI:: NC_000013.11:102366890:TAAAGTAAA:TAAA
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102366895_102366899del, NC_000013.10:g.103019245_103019249del, NG_008317.2:g.39880_39884del

Select item 14889173459.

rs1488917345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102370967 (GRCh38)
13:103023317 (GRCh37)
Canonical SPDI:: NC_000013.11:102370966:T:C
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000162/3 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000079/11 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000013.11:g.102370967T>C, NC_000013.10:g.103023317T>C, NG_008317.2:g.35808A>G

Select item 148834336010.

rs1488343360 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 13:102372602 (GRCh38)
13:103024952 (GRCh37)
Canonical SPDI:: NC_000013.11:102372601:A:
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102372602del, NC_000013.10:g.103024952del, NG_008317.2:g.34173del

Select item 148645596211.

rs1486455962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102374006 (GRCh38)
13:103026356 (GRCh37)
Canonical SPDI:: NC_000013.11:102374005:A:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000013.11:g.102374006A>G, NC_000013.10:g.103026356A>G, NG_008317.2:g.32769T>C

Select item 148635723912.

rs1486357239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102369036 (GRCh38)
13:103021386 (GRCh37)
Canonical SPDI:: NC_000013.11:102369035:C:T
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.102369036C>T, NC_000013.10:g.103021386C>T, NG_008317.2:g.37739G>A

Select item 148615546913.

rs1486155469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102372096 (GRCh38)
13:103024446 (GRCh37)
Canonical SPDI:: NC_000013.11:102372095:A:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102372096A>G, NC_000013.10:g.103024446A>G, NG_008317.2:g.34679T>C

Select item 148524329614.

rs1485243296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102370394 (GRCh38)
13:103022744 (GRCh37)
Canonical SPDI:: NC_000013.11:102370393:T:C
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102370394T>C, NC_000013.10:g.103022744T>C, NG_008317.2:g.36381A>G

Select item 148511649115.

rs1485116491 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:102373508 (GRCh38)
13:103025858 (GRCh37)
Canonical SPDI:: NC_000013.11:102373507:AAA:AA
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102373510del, NC_000013.10:g.103025860del, NG_008317.2:g.33267del, NR_125912.1:n.199del

Select item 148504773616.

rs1485047736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:102369421 (GRCh38)
13:103021771 (GRCh37)
Canonical SPDI:: NC_000013.11:102369420:C:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.102369421C>G, NC_000013.10:g.103021771C>G, NG_008317.2:g.37354G>C

Select item 148436469617.

rs1484364696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102370400 (GRCh38)
13:103022750 (GRCh37)
Canonical SPDI:: NC_000013.11:102370399:T:C
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000106/3 (TOMMO)
HGVS:: NC_000013.11:g.102370400T>C, NC_000013.10:g.103022750T>C, NG_008317.2:g.36375A>G

Select item 148431672618.

rs1484316726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102368434 (GRCh38)
13:103020784 (GRCh37)
Canonical SPDI:: NC_000013.11:102368433:A:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.102368434A>G, NC_000013.10:g.103020784A>G, NG_008317.2:g.38341T>C

Select item 148417652419.

rs1484176524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:102370779 (GRCh38)
13:103023129 (GRCh37)
Canonical SPDI:: NC_000013.11:102370778:T:G
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102370779T>G, NC_000013.10:g.103023129T>G, NG_008317.2:g.35996A>C

Select item 148309132420.

rs1483091324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102369602 (GRCh38)
13:103021952 (GRCh37)
Canonical SPDI:: NC_000013.11:102369601:C:T
Gene:: FGF14 (Varview), FGF14-IT1 (Varview), FGF14-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.102369602C>T, NC_000013.10:g.103021952C>T, NG_008317.2:g.37173G>A

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