SNP Links for Gene (Select 80318) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915496541.

rs1491549654 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 9:83779465 (GRCh38)
9:86394380 (GRCh37)
Canonical SPDI:: NC_000009.12:83779463:CGC:C
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00046/7 (TOMMO)
HGVS:: NC_000009.12:g.83779465_83779466del, NC_000009.11:g.86394380_86394381del

Select item 14915486892.

rs1491548689 has merged into rs368970118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 9:83779463 (GRCh38)
9:86394378 (GRCh37)
Canonical SPDI:: NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000009.12:83779448:ACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000009.12:g.83779449AC[7], NC_000009.12:g.83779449AC[9], NC_000009.12:g.83779449AC[10], NC_000009.12:g.83779449AC[11], NC_000009.12:g.83779449AC[12], NC_000009.12:g.83779449AC[13], NC_000009.12:g.83779449AC[14], NC_000009.12:g.83779449AC[15], NC_000009.12:g.83779449AC[16], NC_000009.12:g.83779449AC[17], NC_000009.12:g.83779449AC[18], NC_000009.12:g.83779449AC[19], NC_000009.11:g.86394364AC[7], NC_000009.11:g.86394364AC[9], NC_000009.11:g.86394364AC[10], NC_000009.11:g.86394364AC[11], NC_000009.11:g.86394364AC[12], NC_000009.11:g.86394364AC[13], NC_000009.11:g.86394364AC[14], NC_000009.11:g.86394364AC[15], NC_000009.11:g.86394364AC[16], NC_000009.11:g.86394364AC[17], NC_000009.11:g.86394364AC[18], NC_000009.11:g.86394364AC[19]

Select item 14914803823.

rs1491480382 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14914632714.

rs1491463271 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACATATATATACAC [Show Flanks]
Chromosome:: 9:83779536 (GRCh38)
9:86394452 (GRCh37)
Canonical SPDI:: NC_000009.12:83779536:ATATATATACAC:ATATATATACACACATATATATACAC
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATACACACATATATATACAC=0.002951/35 (ALFA)
ATATATATACACAC=0.002236/244 (GnomAD)
HGVS:: NC_000009.12:g.83779537_83779548AT[4]AC[3]AT[4]AC[2], NC_000009.11:g.86394452_86394463AT[4]AC[3]AT[4]AC[2]

Select item 14914447825.

rs1491444782 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:83774702 (GRCh38)
9:86389617 (GRCh37)
Canonical SPDI:: NC_000009.12:83774701:CT:
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0016/19 (ALFA)
-=0.00328/309 (GnomAD)
-=0.0364/510 (TOMMO)
HGVS:: NC_000009.12:g.83774702_83774703del, NC_000009.11:g.86389617_86389618del

Select item 14914331596.

rs1491433159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:83739418 (GRCh38)
9:86354334 (GRCh37)
Canonical SPDI:: NC_000009.12:83739418:T:TT
Gene:: GKAP1 (Varview), LOC124902191 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.83739419dup, NC_000009.11:g.86354334dup

Select item 14914327687.

rs1491432768 has merged into rs1426436116 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 9:83812367 (GRCh38)
9:86427282 (GRCh37)
Canonical SPDI:: NC_000009.12:83812359:TTTTTTTTT:TTTTTTT,NC_000009.12:83812359:TTTTTTTTT:TTTTTTTT,NC_000009.12:83812359:TTTTTTTTT:TTTTTTTTTT,NC_000009.12:83812359:TTTTTTTTT:TTTTTTTTTTT
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.04312/79 (Korea1K)
-=0.04439/744 (TOMMO)
-=0.045/27 (NorthernSweden)
HGVS:: NC_000009.12:g.83812367_83812368del, NC_000009.12:g.83812368del, NC_000009.12:g.83812368dup, NC_000009.12:g.83812367_83812368dup, NC_000009.11:g.86427282_86427283del, NC_000009.11:g.86427283del, NC_000009.11:g.86427283dup, NC_000009.11:g.86427282_86427283dup

Select item 14914099968.

rs1491409996 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 9:83795589 (GRCh38)
9:86410505 (GRCh37)
Canonical SPDI:: NC_000009.12:83795589:TT:TTCTT
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.83795591_83795592insCTT, NC_000009.11:g.86410506_86410507insCTT

Select item 14913831329.

rs1491383132 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:83805472 (GRCh38)
9:86420387 (GRCh37)
Canonical SPDI:: NC_000009.12:83805470:ATA:A
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000404/48 (GnomAD)
-=0.006024/11 (Korea1K)
HGVS:: NC_000009.12:g.83805472_83805473del, NC_000009.11:g.86420387_86420388del

Select item 149138250610.

rs1491382506 has merged into rs1168792305 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:83774713 (GRCh38)
9:86389628 (GRCh37)
Canonical SPDI:: NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83774702:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.83774713_83774728del, NC_000009.12:g.83774717_83774728del, NC_000009.12:g.83774718_83774728del, NC_000009.12:g.83774719_83774728del, NC_000009.12:g.83774720_83774728del, NC_000009.12:g.83774721_83774728del, NC_000009.12:g.83774722_83774728del, NC_000009.12:g.83774723_83774728del, NC_000009.12:g.83774725_83774728del, NC_000009.12:g.83774726_83774728del, NC_000009.12:g.83774727_83774728del, NC_000009.12:g.83774728del, NC_000009.12:g.83774728dup, NC_000009.12:g.83774727_83774728dup, NC_000009.12:g.83774726_83774728dup, NC_000009.12:g.83774725_83774728dup, NC_000009.12:g.83774724_83774728dup, NC_000009.12:g.83774723_83774728dup, NC_000009.11:g.86389628_86389643del, NC_000009.11:g.86389632_86389643del, NC_000009.11:g.86389633_86389643del, NC_000009.11:g.86389634_86389643del, NC_000009.11:g.86389635_86389643del, NC_000009.11:g.86389636_86389643del, NC_000009.11:g.86389637_86389643del, NC_000009.11:g.86389638_86389643del, NC_000009.11:g.86389640_86389643del, NC_000009.11:g.86389641_86389643del, NC_000009.11:g.86389642_86389643del, NC_000009.11:g.86389643del, NC_000009.11:g.86389643dup, NC_000009.11:g.86389642_86389643dup, NC_000009.11:g.86389641_86389643dup, NC_000009.11:g.86389640_86389643dup, NC_000009.11:g.86389639_86389643dup, NC_000009.11:g.86389638_86389643dup

Select item 149134568011.

rs1491345680 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 9:83804846 (GRCh38)
9:86419762 (GRCh37)
Canonical SPDI:: NC_000009.12:83804846::A,NC_000009.12:83804846::T
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00005/2 (GnomAD)
HGVS:: NC_000009.12:g.83804846_83804847insA, NC_000009.12:g.83804846_83804847insT, NC_000009.11:g.86419761_86419762insA, NC_000009.11:g.86419761_86419762insT

Select item 149132219812.

rs1491322198 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACACACACACATTCTAAAGTGAAATCGA,ACACACACACACGCACAT,ACACACACACACGCACATATACAT,ACACACACACAT [Show Flanks]
Chromosome:: 9:83779464 (GRCh38)
9:86394380 (GRCh37)
Canonical SPDI:: NC_000009.12:83779464::ACACACACACACACATTCTAAAGTGAAATCGA,NC_000009.12:83779464::ACACACACACACGCACAT,NC_000009.12:83779464::ACACACACACACGCACATATACAT,NC_000009.12:83779464::ACACACACACAT
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACGCACATATACAT=0./0 (ALFA)
ACACACACACACACATTCTAAAGTGAAATCGA=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.83779464_83779465insACACACACACACACATTCTAAAGTGAAATCGA, NC_000009.12:g.83779464_83779465insACACACACACACGCACAT, NC_000009.12:g.83779464_83779465insACACACACACACGCACATATACAT, NC_000009.12:g.83779464_83779465insACACACACACAT, NC_000009.11:g.86394379_86394380insACACACACACACACATTCTAAAGTGAAATCGA, NC_000009.11:g.86394379_86394380insACACACACACACGCACAT, NC_000009.11:g.86394379_86394380insACACACACACACGCACATATACAT, NC_000009.11:g.86394379_86394380insACACACACACAT

Select item 149126168613.

rs1491261686 has merged into rs749159512 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC,TCTCTC [Show Flanks]
Chromosome:: 9:83741358 (GRCh38)
9:86356273 (GRCh37)
Canonical SPDI:: NC_000009.12:83741355:TCTCTC:TC,NC_000009.12:83741355:TCTCTC:TCTC,NC_000009.12:83741355:TCTCTC:TCTCTCTC
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.00165/7 (Estonian)
-=0.00186/3 (Korea1K)
-=0.00344/2 (NorthernSweden)
-=0.20498/790 (ALSPAC)
HGVS:: NC_000009.12:g.83741356TC[1], NC_000009.12:g.83741356TC[2], NC_000009.12:g.83741356TC[4], NC_000009.11:g.86356271TC[1], NC_000009.11:g.86356271TC[2], NC_000009.11:g.86356271TC[4]

Select item 149123438314.

rs1491234383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT,T [Show Flanks]
Chromosome:: 9:83771237 (GRCh38)
9:86386153 (GRCh37)
Canonical SPDI:: NC_000009.12:83771237:TT:TTATTT,NC_000009.12:83771237:TT:TTT
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.83771239_83771240insATTT, NC_000009.12:g.83771239dup, NC_000009.11:g.86386154_86386155insATTT, NC_000009.11:g.86386154dup

Select item 149122864315.

rs1491228643 has merged into rs58291258 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:83795599 (GRCh38)
9:86410514 (GRCh37)
Canonical SPDI:: NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:83795588:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.83795599_83795609del, NC_000009.12:g.83795601_83795609del, NC_000009.12:g.83795602_83795609del, NC_000009.12:g.83795604_83795609del, NC_000009.12:g.83795606_83795609del, NC_000009.12:g.83795607_83795609del, NC_000009.12:g.83795608_83795609del, NC_000009.12:g.83795609del, NC_000009.12:g.83795609dup, NC_000009.12:g.83795608_83795609dup, NC_000009.12:g.83795607_83795609dup, NC_000009.12:g.83795606_83795609dup, NC_000009.12:g.83795605_83795609dup, NC_000009.12:g.83795604_83795609dup, NC_000009.12:g.83795603_83795609dup, NC_000009.12:g.83795602_83795609dup, NC_000009.12:g.83795601_83795609dup, NC_000009.12:g.83795600_83795609dup, NC_000009.12:g.83795599_83795609dup, NC_000009.12:g.83795609_83795610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.83795609_83795610insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.83795609_83795610insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.86410514_86410524del, NC_000009.11:g.86410516_86410524del, NC_000009.11:g.86410517_86410524del, NC_000009.11:g.86410519_86410524del, NC_000009.11:g.86410521_86410524del, NC_000009.11:g.86410522_86410524del, NC_000009.11:g.86410523_86410524del, NC_000009.11:g.86410524del, NC_000009.11:g.86410524dup, NC_000009.11:g.86410523_86410524dup, NC_000009.11:g.86410522_86410524dup, NC_000009.11:g.86410521_86410524dup, NC_000009.11:g.86410520_86410524dup, NC_000009.11:g.86410519_86410524dup, NC_000009.11:g.86410518_86410524dup, NC_000009.11:g.86410517_86410524dup, NC_000009.11:g.86410516_86410524dup, NC_000009.11:g.86410515_86410524dup, NC_000009.11:g.86410514_86410524dup, NC_000009.11:g.86410524_86410525insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.86410524_86410525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.86410524_86410525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149122709016.

rs1491227090 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:83817572 (GRCh38)
9:86432488 (GRCh37)
Canonical SPDI:: NC_000009.12:83817572:T:TT
Gene:: GKAP1 (Varview), LOC101927552 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000009.12:g.83817573dup, NC_000009.11:g.86432488dup, NM_025211.4:c.-232dup, NM_025211.3:c.-232dup, XM_011519058.3:c.-323dup, XM_011519058.2:c.-323dup, XM_011519058.1:c.-323dup, NM_001135953.2:c.-232dup, NM_001135953.1:c.-232dup

Select item 149122454017.

rs1491224540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAC [Show Flanks]
Chromosome:: 9:83741356 (GRCh38)
9:86356272 (GRCh37)
Canonical SPDI:: NC_000009.12:83741356:C:CACAC
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACAC=0./0 (ALFA)
CACA=0.00031/25 (GnomAD)
HGVS:: NC_000009.12:g.83741357_83741358insACAC, NC_000009.11:g.86356272_86356273insACAC

Select item 149121571018.

rs1491215710 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:83812345 (GRCh38)
9:86427260 (GRCh37)
Canonical SPDI:: NC_000009.12:83812344:GT:
Gene:: GKAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.83812345_83812346del, NC_000009.11:g.86427260_86427261del

Select item 149121320819.

rs1491213208 has merged into rs1277312684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 9:83779542 (GRCh38)
9:86394457 (GRCh37)
Canonical SPDI:: NC_000009.12:83779535:TATATATATA:TATATA,NC_000009.12:83779535:TATATATATA:TATATATA,NC_000009.12:83779535:TATATATATA:TATATATATATA
Gene:: GKAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TA=0.000665/70 (GnomAD)
HGVS:: NC_000009.12:g.83779536TA[3], NC_000009.12:g.83779536TA[4], NC_000009.12:g.83779536TA[6], NC_000009.11:g.86394451TA[3], NC_000009.11:g.86394451TA[4], NC_000009.11:g.86394451TA[6]

Select item 149121154620.

rs1491211546 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GC
Chromosome:: no mapping
Canonical SPDI:

<< 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