SNP Links for Gene (Select 26128) - SNP

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Select item 14915154981.

rs1491515498 has merged into rs34411801 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 10:69014724 (GRCh38)
10:70774480 (GRCh37)
Canonical SPDI:: NC_000010.11:69014716:CCCCCCCCC:CCCCCCC,NC_000010.11:69014716:CCCCCCCCC:CCCCCCCC,NC_000010.11:69014716:CCCCCCCCC:CCCCCCCCCC,NC_000010.11:69014716:CCCCCCCCC:CCCCCCCCCCC,NC_000010.11:69014716:CCCCCCCCC:CCCCCCCCCCCC,NC_000010.11:69014716:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
C=0.087126/67 (1000Genomes)
-=0.182474/48299 (TOPMED)
-=0.213323/791 (TWINSUK)
-=0.218993/844 (ALSPAC)
-=0.219439/219 (GoNL)
-=0.236667/142 (NorthernSweden)
-=0.24865/1105 (Estonian)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000010.11:g.69014724_69014725del, NC_000010.11:g.69014725del, NC_000010.11:g.69014725dup, NC_000010.11:g.69014724_69014725dup, NC_000010.11:g.69014723_69014725dup, NC_000010.11:g.69014722_69014725dup, NC_000010.10:g.70774480_70774481del, NC_000010.10:g.70774481del, NC_000010.10:g.70774481dup, NC_000010.10:g.70774480_70774481dup, NC_000010.10:g.70774479_70774481dup, NC_000010.10:g.70774478_70774481dup, NG_017061.1:g.31004_31005del, NG_017061.1:g.31005del, NG_017061.1:g.31005dup, NG_017061.1:g.31004_31005dup, NG_017061.1:g.31003_31005dup, NG_017061.1:g.31002_31005dup

Select item 14915033302.

rs1491503330 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:68996869 (GRCh38)
10:70756625 (GRCh37)
Canonical SPDI:: NC_000010.11:68996867:ATA:A
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.68996869_68996870del, NC_000010.10:g.70756625_70756626del, NG_017061.1:g.13149_13150del

Select item 14913685543.

rs1491368554 has merged into rs1164355898 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:69004230 (GRCh38)
10:70763986 (GRCh37)
Canonical SPDI:: NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69004219:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.69004230_69004242del, NC_000010.11:g.69004231_69004242del, NC_000010.11:g.69004232_69004242del, NC_000010.11:g.69004233_69004242del, NC_000010.11:g.69004235_69004242del, NC_000010.11:g.69004236_69004242del, NC_000010.11:g.69004238_69004242del, NC_000010.11:g.69004239_69004242del, NC_000010.11:g.69004240_69004242del, NC_000010.11:g.69004241_69004242del, NC_000010.11:g.69004242del, NC_000010.11:g.69004242dup, NC_000010.11:g.69004241_69004242dup, NC_000010.11:g.69004240_69004242dup, NC_000010.11:g.69004239_69004242dup, NC_000010.11:g.69004236_69004242dup, NC_000010.11:g.69004242_69004243insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70763986_70763998del, NC_000010.10:g.70763987_70763998del, NC_000010.10:g.70763988_70763998del, NC_000010.10:g.70763989_70763998del, NC_000010.10:g.70763991_70763998del, NC_000010.10:g.70763992_70763998del, NC_000010.10:g.70763994_70763998del, NC_000010.10:g.70763995_70763998del, NC_000010.10:g.70763996_70763998del, NC_000010.10:g.70763997_70763998del, NC_000010.10:g.70763998del, NC_000010.10:g.70763998dup, NC_000010.10:g.70763997_70763998dup, NC_000010.10:g.70763996_70763998dup, NC_000010.10:g.70763995_70763998dup, NC_000010.10:g.70763992_70763998dup, NC_000010.10:g.70763998_70763999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017061.1:g.20510_20522del, NG_017061.1:g.20511_20522del, NG_017061.1:g.20512_20522del, NG_017061.1:g.20513_20522del, NG_017061.1:g.20515_20522del, NG_017061.1:g.20516_20522del, NG_017061.1:g.20518_20522del, NG_017061.1:g.20519_20522del, NG_017061.1:g.20520_20522del, NG_017061.1:g.20521_20522del, NG_017061.1:g.20522del, NG_017061.1:g.20522dup, NG_017061.1:g.20521_20522dup, NG_017061.1:g.20520_20522dup, NG_017061.1:g.20519_20522dup, NG_017061.1:g.20516_20522dup, NG_017061.1:g.20522_20523insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913465314.

rs1491346531 has merged into rs869186033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:68998783 (GRCh38)
10:70758539 (GRCh37)
Canonical SPDI:: NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68998771:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.68998783_68998793del, NC_000010.11:g.68998784_68998793del, NC_000010.11:g.68998785_68998793del, NC_000010.11:g.68998786_68998793del, NC_000010.11:g.68998787_68998793del, NC_000010.11:g.68998788_68998793del, NC_000010.11:g.68998789_68998793del, NC_000010.11:g.68998790_68998793del, NC_000010.11:g.68998791_68998793del, NC_000010.11:g.68998792_68998793del, NC_000010.11:g.68998793del, NC_000010.11:g.68998793dup, NC_000010.11:g.68998792_68998793dup, NC_000010.11:g.68998791_68998793dup, NC_000010.11:g.68998790_68998793dup, NC_000010.11:g.68998789_68998793dup, NC_000010.11:g.68998788_68998793dup, NC_000010.11:g.68998785_68998793dup, NC_000010.11:g.68998783_68998793dup, NC_000010.10:g.70758539_70758549del, NC_000010.10:g.70758540_70758549del, NC_000010.10:g.70758541_70758549del, NC_000010.10:g.70758542_70758549del, NC_000010.10:g.70758543_70758549del, NC_000010.10:g.70758544_70758549del, NC_000010.10:g.70758545_70758549del, NC_000010.10:g.70758546_70758549del, NC_000010.10:g.70758547_70758549del, NC_000010.10:g.70758548_70758549del, NC_000010.10:g.70758549del, NC_000010.10:g.70758549dup, NC_000010.10:g.70758548_70758549dup, NC_000010.10:g.70758547_70758549dup, NC_000010.10:g.70758546_70758549dup, NC_000010.10:g.70758545_70758549dup, NC_000010.10:g.70758544_70758549dup, NC_000010.10:g.70758541_70758549dup, NC_000010.10:g.70758539_70758549dup, NG_017061.1:g.15063_15073del, NG_017061.1:g.15064_15073del, NG_017061.1:g.15065_15073del, NG_017061.1:g.15066_15073del, NG_017061.1:g.15067_15073del, NG_017061.1:g.15068_15073del, NG_017061.1:g.15069_15073del, NG_017061.1:g.15070_15073del, NG_017061.1:g.15071_15073del, NG_017061.1:g.15072_15073del, NG_017061.1:g.15073del, NG_017061.1:g.15073dup, NG_017061.1:g.15072_15073dup, NG_017061.1:g.15071_15073dup, NG_017061.1:g.15070_15073dup, NG_017061.1:g.15069_15073dup, NG_017061.1:g.15068_15073dup, NG_017061.1:g.15065_15073dup, NG_017061.1:g.15063_15073dup

Select item 14913361105.

rs1491336110 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69004219 (GRCh38)
10:70763975 (GRCh37)
Canonical SPDI:: NC_000010.11:69004218:CA:
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.69004219_69004220del, NC_000010.10:g.70763975_70763976del, NG_017061.1:g.20499_20500del

Select item 14913259136.

rs1491325913 has merged into rs34262113 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68987053 (GRCh38)
10:70746809 (GRCh37)
Canonical SPDI:: NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68987042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIFBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68987053_68987066del, NC_000010.11:g.68987054_68987066del, NC_000010.11:g.68987055_68987066del, NC_000010.11:g.68987056_68987066del, NC_000010.11:g.68987057_68987066del, NC_000010.11:g.68987058_68987066del, NC_000010.11:g.68987059_68987066del, NC_000010.11:g.68987060_68987066del, NC_000010.11:g.68987061_68987066del, NC_000010.11:g.68987062_68987066del, NC_000010.11:g.68987063_68987066del, NC_000010.11:g.68987064_68987066del, NC_000010.11:g.68987065_68987066del, NC_000010.11:g.68987066del, NC_000010.11:g.68987066dup, NC_000010.11:g.68987065_68987066dup, NC_000010.11:g.68987064_68987066dup, NC_000010.11:g.68987063_68987066dup, NC_000010.11:g.68987062_68987066dup, NC_000010.11:g.68987061_68987066dup, NC_000010.11:g.68987060_68987066dup, NC_000010.11:g.68987059_68987066dup, NC_000010.11:g.68987058_68987066dup, NC_000010.11:g.68987066_68987067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70746809_70746822del, NC_000010.10:g.70746810_70746822del, NC_000010.10:g.70746811_70746822del, NC_000010.10:g.70746812_70746822del, NC_000010.10:g.70746813_70746822del, NC_000010.10:g.70746814_70746822del, NC_000010.10:g.70746815_70746822del, NC_000010.10:g.70746816_70746822del, NC_000010.10:g.70746817_70746822del, NC_000010.10:g.70746818_70746822del, NC_000010.10:g.70746819_70746822del, NC_000010.10:g.70746820_70746822del, NC_000010.10:g.70746821_70746822del, NC_000010.10:g.70746822del, NC_000010.10:g.70746822dup, NC_000010.10:g.70746821_70746822dup, NC_000010.10:g.70746820_70746822dup, NC_000010.10:g.70746819_70746822dup, NC_000010.10:g.70746818_70746822dup, NC_000010.10:g.70746817_70746822dup, NC_000010.10:g.70746816_70746822dup, NC_000010.10:g.70746815_70746822dup, NC_000010.10:g.70746814_70746822dup, NC_000010.10:g.70746822_70746823insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_017061.1:g.3333_3346del, NG_017061.1:g.3334_3346del, NG_017061.1:g.3335_3346del, NG_017061.1:g.3336_3346del, NG_017061.1:g.3337_3346del, NG_017061.1:g.3338_3346del, NG_017061.1:g.3339_3346del, NG_017061.1:g.3340_3346del, NG_017061.1:g.3341_3346del, NG_017061.1:g.3342_3346del, NG_017061.1:g.3343_3346del, NG_017061.1:g.3344_3346del, NG_017061.1:g.3345_3346del, NG_017061.1:g.3346del, NG_017061.1:g.3346dup, NG_017061.1:g.3345_3346dup, NG_017061.1:g.3344_3346dup, NG_017061.1:g.3343_3346dup, NG_017061.1:g.3342_3346dup, NG_017061.1:g.3341_3346dup, NG_017061.1:g.3340_3346dup, NG_017061.1:g.3339_3346dup, NG_017061.1:g.3338_3346dup, NG_017061.1:g.3346_3347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912824987.

rs1491282498 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:68987042 (GRCh38)
10:70746798 (GRCh37)
Canonical SPDI:: NC_000010.11:68987041:CA:
Gene:: KIFBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00123/32 (TOMMO)
HGVS:: NC_000010.11:g.68987042_68987043del, NC_000010.10:g.70746798_70746799del, NG_017061.1:g.3322_3323del

Select item 14912551958.

rs1491255195 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:68996543 (GRCh38)
10:70756299 (GRCh37)
Canonical SPDI:: NC_000010.11:68996542:AA:
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000162/3 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.68996543_68996544del, NC_000010.10:g.70756299_70756300del, NG_017061.1:g.12823_12824del

Select item 14912345949.

rs1491234594 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:68996543 (GRCh38)
10:70756300 (GRCh37)
Canonical SPDI:: NC_000010.11:68996543::G
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00028/8 (TOMMO)
HGVS:: NC_000010.11:g.68996543_68996544insG, NC_000010.10:g.70756299_70756300insG, NG_017061.1:g.12823_12824insG

Select item 149120784510.

rs1491207845 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:69008378 (GRCh38)
10:70768135 (GRCh37)
Canonical SPDI:: NC_000010.11:69008378::T
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.69008378_69008379insT, NC_000010.10:g.70768134_70768135insT, NG_017061.1:g.24658_24659insT

Select item 149112456611.

rs1491124566 has merged into rs1211667916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:69008385 (GRCh38)
10:70768141 (GRCh37)
Canonical SPDI:: NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69008377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69008385_69008392del, NC_000010.11:g.69008386_69008392del, NC_000010.11:g.69008387_69008392del, NC_000010.11:g.69008388_69008392del, NC_000010.11:g.69008389_69008392del, NC_000010.11:g.69008390_69008392del, NC_000010.11:g.69008391_69008392del, NC_000010.11:g.69008392del, NC_000010.11:g.69008392dup, NC_000010.11:g.69008391_69008392dup, NC_000010.11:g.69008390_69008392dup, NC_000010.11:g.69008389_69008392dup, NC_000010.11:g.69008388_69008392dup, NC_000010.11:g.69008387_69008392dup, NC_000010.11:g.69008386_69008392dup, NC_000010.11:g.69008385_69008392dup, NC_000010.11:g.69008384_69008392dup, NC_000010.11:g.69008383_69008392dup, NC_000010.11:g.69008382_69008392dup, NC_000010.11:g.69008381_69008392dup, NC_000010.11:g.69008380_69008392dup, NC_000010.11:g.69008379_69008392dup, NC_000010.11:g.69008378_69008392dup, NC_000010.11:g.69008392_69008393insAAAAAAAAAAAAAAAA, NC_000010.11:g.69008392_69008393insAAAAAAAAAAAAAAAAA, NC_000010.11:g.69008392_69008393insAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69008392_69008393insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69008392_69008393insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70768141_70768148del, NC_000010.10:g.70768142_70768148del, NC_000010.10:g.70768143_70768148del, NC_000010.10:g.70768144_70768148del, NC_000010.10:g.70768145_70768148del, NC_000010.10:g.70768146_70768148del, NC_000010.10:g.70768147_70768148del, NC_000010.10:g.70768148del, NC_000010.10:g.70768148dup, NC_000010.10:g.70768147_70768148dup, NC_000010.10:g.70768146_70768148dup, NC_000010.10:g.70768145_70768148dup, NC_000010.10:g.70768144_70768148dup, NC_000010.10:g.70768143_70768148dup, NC_000010.10:g.70768142_70768148dup, NC_000010.10:g.70768141_70768148dup, NC_000010.10:g.70768140_70768148dup, NC_000010.10:g.70768139_70768148dup, NC_000010.10:g.70768138_70768148dup, NC_000010.10:g.70768137_70768148dup, NC_000010.10:g.70768136_70768148dup, NC_000010.10:g.70768135_70768148dup, NC_000010.10:g.70768134_70768148dup, NC_000010.10:g.70768148_70768149insAAAAAAAAAAAAAAAA, NC_000010.10:g.70768148_70768149insAAAAAAAAAAAAAAAAA, NC_000010.10:g.70768148_70768149insAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70768148_70768149insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70768148_70768149insAAAAAAAAAAAAAAAAAAAA, NG_017061.1:g.24665_24672del, NG_017061.1:g.24666_24672del, NG_017061.1:g.24667_24672del, NG_017061.1:g.24668_24672del, NG_017061.1:g.24669_24672del, NG_017061.1:g.24670_24672del, NG_017061.1:g.24671_24672del, NG_017061.1:g.24672del, NG_017061.1:g.24672dup, NG_017061.1:g.24671_24672dup, NG_017061.1:g.24670_24672dup, NG_017061.1:g.24669_24672dup, NG_017061.1:g.24668_24672dup, NG_017061.1:g.24667_24672dup, NG_017061.1:g.24666_24672dup, NG_017061.1:g.24665_24672dup, NG_017061.1:g.24664_24672dup, NG_017061.1:g.24663_24672dup, NG_017061.1:g.24662_24672dup, NG_017061.1:g.24661_24672dup, NG_017061.1:g.24660_24672dup, NG_017061.1:g.24659_24672dup, NG_017061.1:g.24658_24672dup, NG_017061.1:g.24672_24673insAAAAAAAAAAAAAAAA, NG_017061.1:g.24672_24673insAAAAAAAAAAAAAAAAA, NG_017061.1:g.24672_24673insAAAAAAAAAAAAAAAAAA, NG_017061.1:g.24672_24673insAAAAAAAAAAAAAAAAAAA, NG_017061.1:g.24672_24673insAAAAAAAAAAAAAAAAAAAA

Select item 149108188312.

rs1491081883 has merged into rs60304762 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68987180 (GRCh38)
10:70746936 (GRCh37)
Canonical SPDI:: NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68987170:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: KIFBP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68987180_68987186del, NC_000010.11:g.68987181_68987186del, NC_000010.11:g.68987183_68987186del, NC_000010.11:g.68987184_68987186del, NC_000010.11:g.68987185_68987186del, NC_000010.11:g.68987186del, NC_000010.11:g.68987186dup, NC_000010.11:g.68987185_68987186dup, NC_000010.11:g.68987184_68987186dup, NC_000010.11:g.68987183_68987186dup, NC_000010.10:g.70746936_70746942del, NC_000010.10:g.70746937_70746942del, NC_000010.10:g.70746939_70746942del, NC_000010.10:g.70746940_70746942del, NC_000010.10:g.70746941_70746942del, NC_000010.10:g.70746942del, NC_000010.10:g.70746942dup, NC_000010.10:g.70746941_70746942dup, NC_000010.10:g.70746940_70746942dup, NC_000010.10:g.70746939_70746942dup, NG_017061.1:g.3460_3466del, NG_017061.1:g.3461_3466del, NG_017061.1:g.3463_3466del, NG_017061.1:g.3464_3466del, NG_017061.1:g.3465_3466del, NG_017061.1:g.3466del, NG_017061.1:g.3466dup, NG_017061.1:g.3465_3466dup, NG_017061.1:g.3464_3466dup, NG_017061.1:g.3463_3466dup

Select item 149107889313.

rs1491078893 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:69011271 (GRCh38)
10:70771027 (GRCh37)
Canonical SPDI:: NC_000010.11:69011269:ATA:A
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69011271_69011272del, NC_000010.10:g.70771027_70771028del, NG_017061.1:g.27551_27552del

Select item 149107749114.

rs1491077491 has merged into rs1173764355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 10:69008404 (GRCh38)
10:70768160 (GRCh37)
Canonical SPDI:: NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:69008391:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.69008392AT[6], NC_000010.11:g.69008392AT[7], NC_000010.11:g.69008392AT[8], NC_000010.11:g.69008392AT[9], NC_000010.11:g.69008392AT[10], NC_000010.11:g.69008392AT[11], NC_000010.11:g.69008392AT[12], NC_000010.11:g.69008392AT[13], NC_000010.11:g.69008392AT[15], NC_000010.11:g.69008392AT[16], NC_000010.11:g.69008392AT[17], NC_000010.11:g.69008392AT[18], NC_000010.11:g.69008392AT[19], NC_000010.11:g.69008392AT[20], NC_000010.11:g.69008392AT[21], NC_000010.11:g.69008392AT[22], NC_000010.11:g.69008392AT[23], NC_000010.11:g.69008392AT[24], NC_000010.11:g.69008392AT[25], NC_000010.11:g.69008392AT[26], NC_000010.11:g.69008392AT[27], NC_000010.11:g.69008392AT[28], NC_000010.11:g.69008392AT[29], NC_000010.11:g.69008392AT[30], NC_000010.11:g.69008392AT[31], NC_000010.10:g.70768148AT[6], NC_000010.10:g.70768148AT[7], NC_000010.10:g.70768148AT[8], NC_000010.10:g.70768148AT[9], NC_000010.10:g.70768148AT[10], NC_000010.10:g.70768148AT[11], NC_000010.10:g.70768148AT[12], NC_000010.10:g.70768148AT[13], NC_000010.10:g.70768148AT[15], NC_000010.10:g.70768148AT[16], NC_000010.10:g.70768148AT[17], NC_000010.10:g.70768148AT[18], NC_000010.10:g.70768148AT[19], NC_000010.10:g.70768148AT[20], NC_000010.10:g.70768148AT[21], NC_000010.10:g.70768148AT[22], NC_000010.10:g.70768148AT[23], NC_000010.10:g.70768148AT[24], NC_000010.10:g.70768148AT[25], NC_000010.10:g.70768148AT[26], NC_000010.10:g.70768148AT[27], NC_000010.10:g.70768148AT[28], NC_000010.10:g.70768148AT[29], NC_000010.10:g.70768148AT[30], NC_000010.10:g.70768148AT[31], NG_017061.1:g.24672AT[6], NG_017061.1:g.24672AT[7], NG_017061.1:g.24672AT[8], NG_017061.1:g.24672AT[9], NG_017061.1:g.24672AT[10], NG_017061.1:g.24672AT[11], NG_017061.1:g.24672AT[12], NG_017061.1:g.24672AT[13], NG_017061.1:g.24672AT[15], NG_017061.1:g.24672AT[16], NG_017061.1:g.24672AT[17], NG_017061.1:g.24672AT[18], NG_017061.1:g.24672AT[19], NG_017061.1:g.24672AT[20], NG_017061.1:g.24672AT[21], NG_017061.1:g.24672AT[22], NG_017061.1:g.24672AT[23], NG_017061.1:g.24672AT[24], NG_017061.1:g.24672AT[25], NG_017061.1:g.24672AT[26], NG_017061.1:g.24672AT[27], NG_017061.1:g.24672AT[28], NG_017061.1:g.24672AT[29], NG_017061.1:g.24672AT[30], NG_017061.1:g.24672AT[31]

Select item 149083709115.

rs1490837091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69005415 (GRCh38)
10:70765171 (GRCh37)
Canonical SPDI:: NC_000010.11:69005414:C:T
Gene:: KIFBP (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,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_000010.11:g.69005415C>T, NC_000010.10:g.70765171C>T, NG_017061.1:g.21695C>T

Select item 149047374116.

rs1490473741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69009339 (GRCh38)
10:70769095 (GRCh37)
Canonical SPDI:: NC_000010.11:69009338:G:A
Gene:: KIFBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000010.11:g.69009339G>A, NC_000010.10:g.70769095G>A, NG_017061.1:g.25619G>A

Select item 149038559417.

rs1490385594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:68997278 (GRCh38)
10:70757034 (GRCh37)
Canonical SPDI:: NC_000010.11:68997277:G:C
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.68997278G>C, NC_000010.10:g.70757034G>C, NG_017061.1:g.13558G>C

Select item 149038319118.

rs1490383191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69000408 (GRCh38)
10:70760164 (GRCh37)
Canonical SPDI:: NC_000010.11:69000407:T:C
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69000408T>C, NC_000010.10:g.70760164T>C, NG_017061.1:g.16688T>C

Select item 149036036819.

rs1490360368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68998514 (GRCh38)
10:70758270 (GRCh37)
Canonical SPDI:: NC_000010.11:68998513:G:A
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.68998514G>A, NC_000010.10:g.70758270G>A, NG_017061.1:g.14794G>A

Select item 149034044220.

rs1490340442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:68991334 (GRCh38)
10:70751090 (GRCh37)
Canonical SPDI:: NC_000010.11:68991333:G:C
Gene:: KIFBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.68991334G>C, NC_000010.10:g.70751090G>C, NG_025514.2:g.307G>C, NG_017061.1:g.7614G>C

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