SNP Links for Gene (Select 112752) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915817991.

rs1491581799 has merged into rs371670856 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:75999289 (GRCh38)
14:76465632 (GRCh37)
Canonical SPDI:: NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75999281:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.75999289_75999300del, NC_000014.9:g.75999290_75999300del, NC_000014.9:g.75999291_75999300del, NC_000014.9:g.75999292_75999300del, NC_000014.9:g.75999293_75999300del, NC_000014.9:g.75999294_75999300del, NC_000014.9:g.75999295_75999300del, NC_000014.9:g.75999296_75999300del, NC_000014.9:g.75999297_75999300del, NC_000014.9:g.75999298_75999300del, NC_000014.9:g.75999299_75999300del, NC_000014.9:g.75999300del, NC_000014.9:g.75999300dup, NC_000014.9:g.75999299_75999300dup, NC_000014.9:g.75999298_75999300dup, NC_000014.9:g.75999297_75999300dup, NC_000014.9:g.75999296_75999300dup, NC_000014.9:g.75999295_75999300dup, NC_000014.9:g.75999294_75999300dup, NC_000014.9:g.75999293_75999300dup, NC_000014.9:g.75999292_75999300dup, NC_000014.9:g.75999291_75999300dup, NC_000014.9:g.75999290_75999300dup, NC_000014.8:g.76465632_76465643del, NC_000014.8:g.76465633_76465643del, NC_000014.8:g.76465634_76465643del, NC_000014.8:g.76465635_76465643del, NC_000014.8:g.76465636_76465643del, NC_000014.8:g.76465637_76465643del, NC_000014.8:g.76465638_76465643del, NC_000014.8:g.76465639_76465643del, NC_000014.8:g.76465640_76465643del, NC_000014.8:g.76465641_76465643del, NC_000014.8:g.76465642_76465643del, NC_000014.8:g.76465643del, NC_000014.8:g.76465643dup, NC_000014.8:g.76465642_76465643dup, NC_000014.8:g.76465641_76465643dup, NC_000014.8:g.76465640_76465643dup, NC_000014.8:g.76465639_76465643dup, NC_000014.8:g.76465638_76465643dup, NC_000014.8:g.76465637_76465643dup, NC_000014.8:g.76465636_76465643dup, NC_000014.8:g.76465635_76465643dup, NC_000014.8:g.76465634_76465643dup, NC_000014.8:g.76465633_76465643dup, NG_031957.1:g.18537_18548del, NG_031957.1:g.18538_18548del, NG_031957.1:g.18539_18548del, NG_031957.1:g.18540_18548del, NG_031957.1:g.18541_18548del, NG_031957.1:g.18542_18548del, NG_031957.1:g.18543_18548del, NG_031957.1:g.18544_18548del, NG_031957.1:g.18545_18548del, NG_031957.1:g.18546_18548del, NG_031957.1:g.18547_18548del, NG_031957.1:g.18548del, NG_031957.1:g.18548dup, NG_031957.1:g.18547_18548dup, NG_031957.1:g.18546_18548dup, NG_031957.1:g.18545_18548dup, NG_031957.1:g.18544_18548dup, NG_031957.1:g.18543_18548dup, NG_031957.1:g.18542_18548dup, NG_031957.1:g.18541_18548dup, NG_031957.1:g.18540_18548dup, NG_031957.1:g.18539_18548dup, NG_031957.1:g.18538_18548dup

Select item 14915081212.

rs1491508121 has merged into rs60299035 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 14:75986460 (GRCh38)
14:76452803 (GRCh37)
Canonical SPDI:: NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:75986446:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.75986460_75986462del, NC_000014.9:g.75986461_75986462del, NC_000014.9:g.75986462del, NC_000014.9:g.75986462dup, NC_000014.9:g.75986461_75986462dup, NC_000014.9:g.75986460_75986462dup, NC_000014.9:g.75986459_75986462dup, NC_000014.9:g.75986458_75986462dup, NC_000014.8:g.76452803_76452805del, NC_000014.8:g.76452804_76452805del, NC_000014.8:g.76452805del, NC_000014.8:g.76452805dup, NC_000014.8:g.76452804_76452805dup, NC_000014.8:g.76452803_76452805dup, NC_000014.8:g.76452802_76452805dup, NC_000014.8:g.76452801_76452805dup, NG_031957.1:g.5708_5710del, NG_031957.1:g.5709_5710del, NG_031957.1:g.5710del, NG_031957.1:g.5710dup, NG_031957.1:g.5709_5710dup, NG_031957.1:g.5708_5710dup, NG_031957.1:g.5707_5710dup, NG_031957.1:g.5706_5710dup, NG_011715.1:g.301_303del, NG_011715.1:g.302_303del, NG_011715.1:g.303del, NG_011715.1:g.303dup, NG_011715.1:g.302_303dup, NG_011715.1:g.301_303dup, NG_011715.1:g.300_303dup, NG_011715.1:g.299_303dup

Select item 14913689083.

rs1491368908 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCC,CCCTCCC,CCCTCCCA [Show Flanks]
Chromosome:: 14:76060827 (GRCh38)
14:76527171 (GRCh37)
Canonical SPDI:: NC_000014.9:76060827::CCC,NC_000014.9:76060827::CCCTCCC,NC_000014.9:76060827::CCCTCCCA
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CCC=0.00012/2 (TOMMO)
HGVS:: NC_000014.9:g.76060827_76060828insCCC, NC_000014.9:g.76060827_76060828insCCCTCCC, NC_000014.9:g.76060827_76060828insCCCTCCCA, NC_000014.8:g.76527170_76527171insCCC, NC_000014.8:g.76527170_76527171insCCCTCCC, NC_000014.8:g.76527170_76527171insCCCTCCCA, NG_031957.1:g.80075_80076insCCC, NG_031957.1:g.80075_80076insCCCTCCC, NG_031957.1:g.80075_80076insCCCTCCCA

Select item 14913457634.

rs1491345763 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:75988996 (GRCh38)
14:76455339 (GRCh37)
Canonical SPDI:: NC_000014.9:75988994:AGA:A
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.75988996_75988997del, NC_000014.8:g.76455339_76455340del, NG_031957.1:g.8244_8245del

Select item 14913168965.

rs1491316896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:76060828 (GRCh38)
14:76527171 (GRCh37)
Canonical SPDI:: NC_000014.9:76060826:TTT:T
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00091/4 (ALFA)
-=0.01444/1202 (GnomAD)
HGVS:: NC_000014.9:g.76060828_76060829del, NC_000014.8:g.76527171_76527172del, NG_031957.1:g.80076_80077del

Select item 14913019186.

rs1491301918 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,GTATATATA [Show Flanks]
Chromosome:: 14:75999282 (GRCh38)
14:76465626 (GRCh37)
Canonical SPDI:: NC_000014.9:75999282::A,NC_000014.9:75999282::ATA,NC_000014.9:75999282::ATATA,NC_000014.9:75999282::ATATATA,NC_000014.9:75999282::ATATATATA,NC_000014.9:75999282::ATATATATATATATATATA,NC_000014.9:75999282::ATATATATATATATATATATA,NC_000014.9:75999282::ATATATATATATATATATATATA,NC_000014.9:75999282::GTATATATA
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000014.9:g.75999282_75999283insA, NC_000014.9:g.75999282_75999283insATA, NC_000014.9:g.75999282_75999283insATATA, NC_000014.9:g.75999282_75999283insATATATA, NC_000014.9:g.75999282_75999283insATATATATA, NC_000014.9:g.75999282_75999283insATATATATATATATATATA, NC_000014.9:g.75999282_75999283insATATATATATATATATATATA, NC_000014.9:g.75999282_75999283insATATATATATATATATATATATA, NC_000014.9:g.75999282_75999283insGTATATATA, NC_000014.8:g.76465625_76465626insA, NC_000014.8:g.76465625_76465626insATA, NC_000014.8:g.76465625_76465626insATATA, NC_000014.8:g.76465625_76465626insATATATA, NC_000014.8:g.76465625_76465626insATATATATA, NC_000014.8:g.76465625_76465626insATATATATATATATATATA, NC_000014.8:g.76465625_76465626insATATATATATATATATATATA, NC_000014.8:g.76465625_76465626insATATATATATATATATATATATA, NC_000014.8:g.76465625_76465626insGTATATATA, NG_031957.1:g.18530_18531insA, NG_031957.1:g.18530_18531insATA, NG_031957.1:g.18530_18531insATATA, NG_031957.1:g.18530_18531insATATATA, NG_031957.1:g.18530_18531insATATATATA, NG_031957.1:g.18530_18531insATATATATATATATATATA, NG_031957.1:g.18530_18531insATATATATATATATATATATA, NG_031957.1:g.18530_18531insATATATATATATATATATATATA, NG_031957.1:g.18530_18531insGTATATATA

Select item 14912302447.

rs1491230244 has merged into rs746158153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:76062926 (GRCh38)
14:76529269 (GRCh37)
Canonical SPDI:: NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:76062917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IFT43 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000014.9:g.76062926_76062941del, NC_000014.9:g.76062929_76062941del, NC_000014.9:g.76062930_76062941del, NC_000014.9:g.76062931_76062941del, NC_000014.9:g.76062932_76062941del, NC_000014.9:g.76062933_76062941del, NC_000014.9:g.76062934_76062941del, NC_000014.9:g.76062935_76062941del, NC_000014.9:g.76062936_76062941del, NC_000014.9:g.76062937_76062941del, NC_000014.9:g.76062938_76062941del, NC_000014.9:g.76062939_76062941del, NC_000014.9:g.76062940_76062941del, NC_000014.9:g.76062941del, NC_000014.9:g.76062941dup, NC_000014.9:g.76062940_76062941dup, NC_000014.9:g.76062939_76062941dup, NC_000014.9:g.76062938_76062941dup, NC_000014.9:g.76062937_76062941dup, NC_000014.9:g.76062936_76062941dup, NC_000014.9:g.76062935_76062941dup, NC_000014.9:g.76062934_76062941dup, NC_000014.9:g.76062933_76062941dup, NC_000014.9:g.76062932_76062941dup, NC_000014.9:g.76062931_76062941dup, NC_000014.9:g.76062930_76062941dup, NC_000014.9:g.76062929_76062941dup, NC_000014.9:g.76062928_76062941dup, NC_000014.9:g.76062927_76062941dup, NC_000014.9:g.76062926_76062941dup, NC_000014.9:g.76062925_76062941dup, NC_000014.9:g.76062924_76062941dup, NC_000014.9:g.76062923_76062941dup, NC_000014.9:g.76062922_76062941dup, NC_000014.9:g.76062921_76062941dup, NC_000014.9:g.76062920_76062941dup, NC_000014.9:g.76062919_76062941dup, NC_000014.9:g.76062918_76062941dup, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.76062941_76062942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529269_76529284del, NC_000014.8:g.76529272_76529284del, NC_000014.8:g.76529273_76529284del, NC_000014.8:g.76529274_76529284del, NC_000014.8:g.76529275_76529284del, NC_000014.8:g.76529276_76529284del, NC_000014.8:g.76529277_76529284del, NC_000014.8:g.76529278_76529284del, NC_000014.8:g.76529279_76529284del, NC_000014.8:g.76529280_76529284del, NC_000014.8:g.76529281_76529284del, NC_000014.8:g.76529282_76529284del, NC_000014.8:g.76529283_76529284del, NC_000014.8:g.76529284del, NC_000014.8:g.76529284dup, NC_000014.8:g.76529283_76529284dup, NC_000014.8:g.76529282_76529284dup, NC_000014.8:g.76529281_76529284dup, NC_000014.8:g.76529280_76529284dup, NC_000014.8:g.76529279_76529284dup, NC_000014.8:g.76529278_76529284dup, NC_000014.8:g.76529277_76529284dup, NC_000014.8:g.76529276_76529284dup, NC_000014.8:g.76529275_76529284dup, NC_000014.8:g.76529274_76529284dup, NC_000014.8:g.76529273_76529284dup, NC_000014.8:g.76529272_76529284dup, NC_000014.8:g.76529271_76529284dup, NC_000014.8:g.76529270_76529284dup, NC_000014.8:g.76529269_76529284dup, NC_000014.8:g.76529268_76529284dup, NC_000014.8:g.76529267_76529284dup, NC_000014.8:g.76529266_76529284dup, NC_000014.8:g.76529265_76529284dup, NC_000014.8:g.76529264_76529284dup, NC_000014.8:g.76529263_76529284dup, NC_000014.8:g.76529262_76529284dup, NC_000014.8:g.76529261_76529284dup, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.76529284_76529285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82174_82189del, NG_031957.1:g.82177_82189del, NG_031957.1:g.82178_82189del, NG_031957.1:g.82179_82189del, NG_031957.1:g.82180_82189del, NG_031957.1:g.82181_82189del, NG_031957.1:g.82182_82189del, NG_031957.1:g.82183_82189del, NG_031957.1:g.82184_82189del, NG_031957.1:g.82185_82189del, NG_031957.1:g.82186_82189del, NG_031957.1:g.82187_82189del, NG_031957.1:g.82188_82189del, NG_031957.1:g.82189del, NG_031957.1:g.82189dup, NG_031957.1:g.82188_82189dup, NG_031957.1:g.82187_82189dup, NG_031957.1:g.82186_82189dup, NG_031957.1:g.82185_82189dup, NG_031957.1:g.82184_82189dup, NG_031957.1:g.82183_82189dup, NG_031957.1:g.82182_82189dup, NG_031957.1:g.82181_82189dup, NG_031957.1:g.82180_82189dup, NG_031957.1:g.82179_82189dup, NG_031957.1:g.82178_82189dup, NG_031957.1:g.82177_82189dup, NG_031957.1:g.82176_82189dup, NG_031957.1:g.82175_82189dup, NG_031957.1:g.82174_82189dup, NG_031957.1:g.82173_82189dup, NG_031957.1:g.82172_82189dup, NG_031957.1:g.82171_82189dup, NG_031957.1:g.82170_82189dup, NG_031957.1:g.82169_82189dup, NG_031957.1:g.82168_82189dup, NG_031957.1:g.82167_82189dup, NG_031957.1:g.82166_82189dup, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_031957.1:g.82189_82190insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912211188.

rs1491221118 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:76062917 (GRCh38)
14:76529260 (GRCh37)
Canonical SPDI:: NC_000014.9:76062916:CA:
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01239/147 (ALFA)
-=0.00433/117 (TOMMO)
HGVS:: NC_000014.9:g.76062917_76062918del, NC_000014.8:g.76529260_76529261del, NG_031957.1:g.82165_82166del

Select item 14912098589.

rs1491209858 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:75988995 (GRCh38)
14:76455339 (GRCh37)
Canonical SPDI:: NC_000014.9:75988995::T
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.75988995_75988996insT, NC_000014.8:g.76455338_76455339insT, NG_031957.1:g.8243_8244insT

Select item 149120656910.

rs1491206569 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:75991388 (GRCh38)
14:76457731 (GRCh37)
Canonical SPDI:: NC_000014.9:75991385:AGAG:AG
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000068/7 (GnomAD)
HGVS:: NC_000014.9:g.75991386AG[1], NC_000014.8:g.76457729AG[1], NG_031957.1:g.10634AG[1]

Select item 149113634311.

rs1491136343 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:76006855 (GRCh38)
14:76473198 (GRCh37)
Canonical SPDI:: NC_000014.9:76006854:AT:
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000305/39 (GnomAD)
HGVS:: NC_000014.9:g.76006855_76006856del, NC_000014.8:g.76473198_76473199del, NG_031957.1:g.26103_26104del

Select item 149103487512.

rs1491034875 has merged into rs35845700 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:76006866 (GRCh38)
14:76473209 (GRCh37)
Canonical SPDI:: NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76006855:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000014.9:g.76006866_76006875del, NC_000014.9:g.76006867_76006875del, NC_000014.9:g.76006869_76006875del, NC_000014.9:g.76006871_76006875del, NC_000014.9:g.76006872_76006875del, NC_000014.9:g.76006873_76006875del, NC_000014.9:g.76006874_76006875del, NC_000014.9:g.76006875del, NC_000014.9:g.76006875dup, NC_000014.9:g.76006874_76006875dup, NC_000014.9:g.76006873_76006875dup, NC_000014.9:g.76006872_76006875dup, NC_000014.9:g.76006871_76006875dup, NC_000014.9:g.76006870_76006875dup, NC_000014.8:g.76473209_76473218del, NC_000014.8:g.76473210_76473218del, NC_000014.8:g.76473212_76473218del, NC_000014.8:g.76473214_76473218del, NC_000014.8:g.76473215_76473218del, NC_000014.8:g.76473216_76473218del, NC_000014.8:g.76473217_76473218del, NC_000014.8:g.76473218del, NC_000014.8:g.76473218dup, NC_000014.8:g.76473217_76473218dup, NC_000014.8:g.76473216_76473218dup, NC_000014.8:g.76473215_76473218dup, NC_000014.8:g.76473214_76473218dup, NC_000014.8:g.76473213_76473218dup, NG_031957.1:g.26114_26123del, NG_031957.1:g.26115_26123del, NG_031957.1:g.26117_26123del, NG_031957.1:g.26119_26123del, NG_031957.1:g.26120_26123del, NG_031957.1:g.26121_26123del, NG_031957.1:g.26122_26123del, NG_031957.1:g.26123del, NG_031957.1:g.26123dup, NG_031957.1:g.26122_26123dup, NG_031957.1:g.26121_26123dup, NG_031957.1:g.26120_26123dup, NG_031957.1:g.26119_26123dup, NG_031957.1:g.26118_26123dup

Select item 149100280913.

rs1491002809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:76071715 (GRCh38)
14:76538058 (GRCh37)
Canonical SPDI:: NC_000014.9:76071714:A:G
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000057/15 (TOPMED)
HGVS:: NC_000014.9:g.76071715A>G, NC_000014.8:g.76538058A>G, NG_031957.1:g.90963A>G

Select item 149096968114.

rs1490969681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:76022705 (GRCh38)
14:76489048 (GRCh37)
Canonical SPDI:: NC_000014.9:76022704:C:G
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.76022705C>G, NC_000014.8:g.76489048C>G, NG_031957.1:g.41953C>G

Select item 149094645915.

rs1490946459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:76069597 (GRCh38)
14:76535940 (GRCh37)
Canonical SPDI:: NC_000014.9:76069596:G:C
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.76069597G>C, NC_000014.8:g.76535940G>C, NG_031957.1:g.88845G>C

Select item 149094164416.

rs1490941644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:76006090 (GRCh38)
14:76472433 (GRCh37)
Canonical SPDI:: NC_000014.9:76006089:A:T
Gene:: IFT43 (Varview)
Functional Consequence:: intron_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_000014.9:g.76006090A>T, NC_000014.8:g.76472433A>T, NG_031957.1:g.25338A>T

Select item 149086638317.

rs1490866383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:76054031 (GRCh38)
14:76520374 (GRCh37)
Canonical SPDI:: NC_000014.9:76054030:A:G
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.76054031A>G, NC_000014.8:g.76520374A>G, NG_031957.1:g.73279A>G

Select item 149085888818.

rs1490858888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:76037901 (GRCh38)
14:76504244 (GRCh37)
Canonical SPDI:: NC_000014.9:76037900:T:C,NC_000014.9:76037900:T:G
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.76037901T>C, NC_000014.9:g.76037901T>G, NC_000014.8:g.76504244T>C, NC_000014.8:g.76504244T>G, NG_031957.1:g.57149T>C, NG_031957.1:g.57149T>G

Select item 149082288819.

rs1490822888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:76058680 (GRCh38)
14:76525023 (GRCh37)
Canonical SPDI:: NC_000014.9:76058679:T:A
Gene:: IFT43 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.76058680T>A, NC_000014.8:g.76525023T>A, NG_031957.1:g.77928T>A, NM_001255995.3:c.254T>A, NM_001255995.2:c.254T>A, NM_001255995.1:c.254T>A, NP_001242924.1:p.Val85Asp

Select item 149076799820.

rs1490767998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:76030392 (GRCh38)
14:76496735 (GRCh37)
Canonical SPDI:: NC_000014.9:76030391:T:A
Gene:: IFT43 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.76030392T>A, NC_000014.8:g.76496735T>A, NG_031957.1:g.49640T>A

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity