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Select item 14915874671.

rs1491587467 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:190648516 (GRCh38)
2:191513242 (GRCh37)
Canonical SPDI:: NC_000002.12:190648514:TGT:T
Gene:: NAB1 (Varview), NEMP2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000041/2 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.190648516_190648517del, NC_000002.11:g.191513242_191513243del, XM_047441958.1:c.-407_-406del

Select item 14915673702.

rs1491567370 has merged into rs60742412 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:190687406 (GRCh38)
2:191552132 (GRCh37)
Canonical SPDI:: NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190687395:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.190687406_190687419del, NC_000002.12:g.190687408_190687419del, NC_000002.12:g.190687409_190687419del, NC_000002.12:g.190687410_190687419del, NC_000002.12:g.190687411_190687419del, NC_000002.12:g.190687412_190687419del, NC_000002.12:g.190687413_190687419del, NC_000002.12:g.190687414_190687419del, NC_000002.12:g.190687415_190687419del, NC_000002.12:g.190687416_190687419del, NC_000002.12:g.190687417_190687419del, NC_000002.12:g.190687418_190687419del, NC_000002.12:g.190687419del, NC_000002.12:g.190687419dup, NC_000002.12:g.190687418_190687419dup, NC_000002.12:g.190687417_190687419dup, NC_000002.12:g.190687416_190687419dup, NC_000002.12:g.190687415_190687419dup, NC_000002.12:g.190687414_190687419dup, NC_000002.11:g.191552132_191552145del, NC_000002.11:g.191552134_191552145del, NC_000002.11:g.191552135_191552145del, NC_000002.11:g.191552136_191552145del, NC_000002.11:g.191552137_191552145del, NC_000002.11:g.191552138_191552145del, NC_000002.11:g.191552139_191552145del, NC_000002.11:g.191552140_191552145del, NC_000002.11:g.191552141_191552145del, NC_000002.11:g.191552142_191552145del, NC_000002.11:g.191552143_191552145del, NC_000002.11:g.191552144_191552145del, NC_000002.11:g.191552145del, NC_000002.11:g.191552145dup, NC_000002.11:g.191552144_191552145dup, NC_000002.11:g.191552143_191552145dup, NC_000002.11:g.191552142_191552145dup, NC_000002.11:g.191552141_191552145dup, NC_000002.11:g.191552140_191552145dup

Select item 14915504363.

rs1491550436 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:190664615 (GRCh38)
2:191529341 (GRCh37)
Canonical SPDI:: NC_000002.12:190664613:TGT:T
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.0018/49 (TOMMO)
HGVS:: NC_000002.12:g.190664615_190664616del, NC_000002.11:g.191529341_191529342del

Select item 14915483774.

rs1491548377 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:190687395 (GRCh38)
2:191552121 (GRCh37)
Canonical SPDI:: NC_000002.12:190687394:CA:
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.190687395_190687396del, NC_000002.11:g.191552121_191552122del

Select item 14915343365.

rs1491534336 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:190683325 (GRCh38)
2:191548051 (GRCh37)
Canonical SPDI:: NC_000002.12:190683324:TA:
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00089/15 (TOMMO)
HGVS:: NC_000002.12:g.190683325_190683326del, NC_000002.11:g.191548051_191548052del

Select item 14914555906.

rs1491455590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:190648515 (GRCh38)
2:191513242 (GRCh37)
Canonical SPDI:: NC_000002.12:190648515:G:GG
Gene:: NAB1 (Varview), NEMP2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000002.12:g.190648516dup, NC_000002.11:g.191513242dup, XM_047441958.1:c.-407dup

Select item 14912911587.

rs1491291158 has merged into rs773885464 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:190647719 (GRCh38)
2:191512445 (GRCh37)
Canonical SPDI:: NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190647710:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAB1 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.190647719_190647731del, NC_000002.12:g.190647720_190647731del, NC_000002.12:g.190647721_190647731del, NC_000002.12:g.190647723_190647731del, NC_000002.12:g.190647725_190647731del, NC_000002.12:g.190647726_190647731del, NC_000002.12:g.190647727_190647731del, NC_000002.12:g.190647728_190647731del, NC_000002.12:g.190647729_190647731del, NC_000002.12:g.190647730_190647731del, NC_000002.12:g.190647731del, NC_000002.12:g.190647731dup, NC_000002.12:g.190647730_190647731dup, NC_000002.12:g.190647729_190647731dup, NC_000002.12:g.190647728_190647731dup, NC_000002.12:g.190647727_190647731dup, NC_000002.12:g.190647726_190647731dup, NC_000002.12:g.190647725_190647731dup, NC_000002.12:g.190647724_190647731dup, NC_000002.12:g.190647723_190647731dup, NC_000002.12:g.190647722_190647731dup, NC_000002.12:g.190647721_190647731dup, NC_000002.12:g.190647720_190647731dup, NC_000002.12:g.190647719_190647731dup, NC_000002.12:g.190647718_190647731dup, NC_000002.12:g.190647717_190647731dup, NC_000002.12:g.190647716_190647731dup, NC_000002.12:g.190647715_190647731dup, NC_000002.12:g.190647714_190647731dup, NC_000002.12:g.190647713_190647731dup, NC_000002.12:g.190647712_190647731dup, NC_000002.12:g.190647711_190647731dup, NC_000002.12:g.190647731_190647732insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.190647731_190647732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.190647731_190647732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.190647731_190647732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.191512445_191512457del, NC_000002.11:g.191512446_191512457del, NC_000002.11:g.191512447_191512457del, NC_000002.11:g.191512449_191512457del, NC_000002.11:g.191512451_191512457del, NC_000002.11:g.191512452_191512457del, NC_000002.11:g.191512453_191512457del, NC_000002.11:g.191512454_191512457del, NC_000002.11:g.191512455_191512457del, NC_000002.11:g.191512456_191512457del, NC_000002.11:g.191512457del, NC_000002.11:g.191512457dup, NC_000002.11:g.191512456_191512457dup, NC_000002.11:g.191512455_191512457dup, NC_000002.11:g.191512454_191512457dup, NC_000002.11:g.191512453_191512457dup, NC_000002.11:g.191512452_191512457dup, NC_000002.11:g.191512451_191512457dup, NC_000002.11:g.191512450_191512457dup, NC_000002.11:g.191512449_191512457dup, NC_000002.11:g.191512448_191512457dup, NC_000002.11:g.191512447_191512457dup, NC_000002.11:g.191512446_191512457dup, NC_000002.11:g.191512445_191512457dup, NC_000002.11:g.191512444_191512457dup, NC_000002.11:g.191512443_191512457dup, NC_000002.11:g.191512442_191512457dup, NC_000002.11:g.191512441_191512457dup, NC_000002.11:g.191512440_191512457dup, NC_000002.11:g.191512439_191512457dup, NC_000002.11:g.191512438_191512457dup, NC_000002.11:g.191512437_191512457dup, NC_000002.11:g.191512457_191512458insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.191512457_191512458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.191512457_191512458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.191512457_191512458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912526058.

rs1491252605 has merged into rs71027237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:190664598 (GRCh38)
2:191529324 (GRCh37)
Canonical SPDI:: NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190664586:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000002.12:g.190664598_190664614del, NC_000002.12:g.190664599_190664614del, NC_000002.12:g.190664600_190664614del, NC_000002.12:g.190664601_190664614del, NC_000002.12:g.190664602_190664614del, NC_000002.12:g.190664603_190664614del, NC_000002.12:g.190664604_190664614del, NC_000002.12:g.190664605_190664614del, NC_000002.12:g.190664606_190664614del, NC_000002.12:g.190664607_190664614del, NC_000002.12:g.190664608_190664614del, NC_000002.12:g.190664609_190664614del, NC_000002.12:g.190664610_190664614del, NC_000002.12:g.190664611_190664614del, NC_000002.12:g.190664612_190664614del, NC_000002.12:g.190664613_190664614del, NC_000002.12:g.190664614del, NC_000002.12:g.190664614dup, NC_000002.12:g.190664613_190664614dup, NC_000002.12:g.190664612_190664614dup, NC_000002.12:g.190664611_190664614dup, NC_000002.12:g.190664610_190664614dup, NC_000002.12:g.190664609_190664614dup, NC_000002.12:g.190664608_190664614dup, NC_000002.12:g.190664607_190664614dup, NC_000002.12:g.190664606_190664614dup, NC_000002.12:g.190664605_190664614dup, NC_000002.12:g.190664604_190664614dup, NC_000002.12:g.190664603_190664614dup, NC_000002.12:g.190664602_190664614dup, NC_000002.12:g.190664601_190664614dup, NC_000002.12:g.190664600_190664614dup, NC_000002.12:g.190664599_190664614dup, NC_000002.12:g.190664598_190664614dup, NC_000002.12:g.190664596_190664614dup, NC_000002.12:g.190664595_190664614dup, NC_000002.12:g.190664593_190664614dup, NC_000002.12:g.190664592_190664614dup, NC_000002.12:g.190664591_190664614dup, NC_000002.12:g.190664589_190664614dup, NC_000002.11:g.191529324_191529340del, NC_000002.11:g.191529325_191529340del, NC_000002.11:g.191529326_191529340del, NC_000002.11:g.191529327_191529340del, NC_000002.11:g.191529328_191529340del, NC_000002.11:g.191529329_191529340del, NC_000002.11:g.191529330_191529340del, NC_000002.11:g.191529331_191529340del, NC_000002.11:g.191529332_191529340del, NC_000002.11:g.191529333_191529340del, NC_000002.11:g.191529334_191529340del, NC_000002.11:g.191529335_191529340del, NC_000002.11:g.191529336_191529340del, NC_000002.11:g.191529337_191529340del, NC_000002.11:g.191529338_191529340del, NC_000002.11:g.191529339_191529340del, NC_000002.11:g.191529340del, NC_000002.11:g.191529340dup, NC_000002.11:g.191529339_191529340dup, NC_000002.11:g.191529338_191529340dup, NC_000002.11:g.191529337_191529340dup, NC_000002.11:g.191529336_191529340dup, NC_000002.11:g.191529335_191529340dup, NC_000002.11:g.191529334_191529340dup, NC_000002.11:g.191529333_191529340dup, NC_000002.11:g.191529332_191529340dup, NC_000002.11:g.191529331_191529340dup, NC_000002.11:g.191529330_191529340dup, NC_000002.11:g.191529329_191529340dup, NC_000002.11:g.191529328_191529340dup, NC_000002.11:g.191529327_191529340dup, NC_000002.11:g.191529326_191529340dup, NC_000002.11:g.191529325_191529340dup, NC_000002.11:g.191529324_191529340dup, NC_000002.11:g.191529322_191529340dup, NC_000002.11:g.191529321_191529340dup, NC_000002.11:g.191529319_191529340dup, NC_000002.11:g.191529318_191529340dup, NC_000002.11:g.191529317_191529340dup, NC_000002.11:g.191529315_191529340dup

Select item 14912329429.

rs1491232942 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:190664587 (GRCh38)
2:191529314 (GRCh37)
Canonical SPDI:: NC_000002.12:190664587::C
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.190664587_190664588insC, NC_000002.11:g.191529313_191529314insC

Select item 149110394210.

rs1491103942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:190647711 (GRCh38)
2:191512438 (GRCh37)
Canonical SPDI:: NC_000002.12:190647711:T:TCT
Gene:: NAB1 (Varview), NEMP2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.01815/294 (ALFA)
TC=0.00093/13 (TOMMO)
TC=0.00383/47 (GnomAD)
HGVS:: NC_000002.12:g.190647712_190647713insCT, NC_000002.11:g.191512438_191512439insCT

Select item 149104390511.

rs1491043905 has merged into rs201737455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 2:190662399 (GRCh38)
2:191527125 (GRCh37)
Canonical SPDI:: NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:190662387:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3735/1526 (1000Genomes)
HGVS:: NC_000002.12:g.190662399_190662401del, NC_000002.12:g.190662400_190662401del, NC_000002.12:g.190662401del, NC_000002.12:g.190662401dup, NC_000002.12:g.190662400_190662401dup, NC_000002.12:g.190662399_190662401dup, NC_000002.12:g.190662395_190662401dup, NC_000002.11:g.191527125_191527127del, NC_000002.11:g.191527126_191527127del, NC_000002.11:g.191527127del, NC_000002.11:g.191527127dup, NC_000002.11:g.191527126_191527127dup, NC_000002.11:g.191527125_191527127dup, NC_000002.11:g.191527121_191527127dup

Select item 149099095512.

rs1490990955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190684881 (GRCh38)
2:191549607 (GRCh37)
Canonical SPDI:: NC_000002.12:190684880:T:G
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190684881T>G, NC_000002.11:g.191549607T>G

Select item 149081039213.

rs1490810392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190675936 (GRCh38)
2:191540662 (GRCh37)
Canonical SPDI:: NC_000002.12:190675935:T:G
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190675936T>G, NC_000002.11:g.191540662T>G

Select item 149067333314.

rs1490673333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190674120 (GRCh38)
2:191538846 (GRCh37)
Canonical SPDI:: NC_000002.12:190674119:A:G
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190674120A>G, NC_000002.11:g.191538846A>G

Select item 149058430115.

rs1490584301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190651605 (GRCh38)
2:191516331 (GRCh37)
Canonical SPDI:: NC_000002.12:190651604:C:T
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190651605C>T, NC_000002.11:g.191516331C>T, XM_047444442.1:c.-4568C>T

Select item 149057238116.

rs1490572381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190690551 (GRCh38)
2:191555277 (GRCh37)
Canonical SPDI:: NC_000002.12:190690550:T:C
Gene:: NAB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.190690551T>C, NC_000002.11:g.191555277T>C, NM_005966.4:c.*218T>C, NM_005966.3:c.*218T>C, XM_011511219.4:c.*218T>C, XM_011511219.3:c.*218T>C, XM_011511219.2:c.*218T>C, XM_011511219.1:c.*218T>C, XM_017004172.3:c.*218T>C, XM_017004172.2:c.*218T>C, XM_017004172.1:c.*218T>C, XM_017004175.3:c.*218T>C, XM_017004175.2:c.*218T>C, XM_017004175.1:c.*218T>C, XM_005246583.2:c.*218T>C, XM_005246583.1:c.*218T>C, XM_024452917.2:c.*218T>C, XM_024452917.1:c.*218T>C, XM_017004173.2:c.*218T>C, XM_017004173.1:c.*218T>C, XM_017004176.2:c.*218T>C, XM_017004176.1:c.*218T>C, NM_001321312.2:c.*218T>C, NM_001321312.1:c.*218T>C, XM_005246582.2:c.*218T>C, XM_005246582.1:c.*218T>C, XM_017004170.2:c.*218T>C, XM_017004170.1:c.*218T>C, XM_047444442.1:c.*218T>C, XM_047444452.1:c.*218T>C, XM_047444451.1:c.*218T>C, XM_047444468.1:c.*218T>C, XM_047444453.1:c.*218T>C, XM_047444454.1:c.*218T>C, XM_047444456.1:c.*218T>C, XM_047444467.1:c.*218T>C, XM_047444443.1:c.*218T>C, XM_047444457.1:c.*218T>C, XM_047444469.1:c.*218T>C, XM_047444476.1:c.*218T>C, XM_047444460.1:c.*218T>C, XM_047444448.1:c.*218T>C, XM_047444461.1:c.*218T>C, XM_047444447.1:c.*218T>C, XM_047444444.1:c.*218T>C, XM_047444446.1:c.*218T>C, XM_047444459.1:c.*218T>C, XM_047444445.1:c.*218T>C, XM_047444458.1:c.*218T>C, XM_047444470.1:c.*218T>C, XM_047444471.1:c.*218T>C, XM_047444466.1:c.*218T>C, XM_047444472.1:c.*218T>C, XM_047444465.1:c.*218T>C, XM_047444450.1:c.*218T>C, XM_047444449.1:c.*218T>C, XM_047444462.1:c.*218T>C, XM_047444464.1:c.*218T>C, XM_047444473.1:c.*218T>C, XM_047444474.1:c.*218T>C, NM_001321313.1:c.*218T>C, XM_017004174.1:c.*218T>C, NM_001321314.1:c.*218T>C, XM_047444475.1:c.*218T>C, NM_001321315.1:c.*218T>C

Select item 149056864817.

rs1490568648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:190692119 (GRCh38)
2:191556845 (GRCh37)
Canonical SPDI:: NC_000002.12:190692118:G:C,NC_000002.12:190692118:G:T
Gene:: NAB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.361111/13 (SGDP_PRJ)
HGVS:: NC_000002.12:g.190692119G>C, NC_000002.12:g.190692119G>T, NC_000002.11:g.191556845G>C, NC_000002.11:g.191556845G>T, NM_005966.4:c.*1786G>C, NM_005966.4:c.*1786G>T, NM_005966.3:c.*1786G>C, NM_005966.3:c.*1786G>T, XM_011511219.4:c.*1786G>C, XM_011511219.4:c.*1786G>T, XM_011511219.3:c.*1786G>C, XM_011511219.3:c.*1786G>T, XM_011511219.2:c.*1786G>C, XM_011511219.2:c.*1786G>T, XM_011511219.1:c.*1786G>C, XM_011511219.1:c.*1786G>T, XM_017004172.3:c.*1786G>C, XM_017004172.3:c.*1786G>T, XM_017004172.2:c.*1786G>C, XM_017004172.2:c.*1786G>T, XM_017004172.1:c.*1786G>C, XM_017004172.1:c.*1786G>T, XM_017004175.3:c.*1786G>C, XM_017004175.3:c.*1786G>T, XM_017004175.2:c.*1786G>C, XM_017004175.2:c.*1786G>T, XM_017004175.1:c.*1786G>C, XM_017004175.1:c.*1786G>T, XM_005246583.2:c.*1786G>C, XM_005246583.2:c.*1786G>T, XM_005246583.1:c.*1786G>C, XM_005246583.1:c.*1786G>T, XM_024452917.2:c.*1786G>C, XM_024452917.2:c.*1786G>T, XM_024452917.1:c.*1786G>C, XM_024452917.1:c.*1786G>T, XM_017004173.2:c.*1786G>C, XM_017004173.2:c.*1786G>T, XM_017004173.1:c.*1786G>C, XM_017004173.1:c.*1786G>T, XM_017004176.2:c.*1786G>C, XM_017004176.2:c.*1786G>T, XM_017004176.1:c.*1786G>C, XM_017004176.1:c.*1786G>T, NM_001321312.2:c.*1786G>C, NM_001321312.2:c.*1786G>T, NM_001321312.1:c.*1786G>C, NM_001321312.1:c.*1786G>T, XM_005246582.2:c.*1786G>C, XM_005246582.2:c.*1786G>T, XM_005246582.1:c.*1786G>C, XM_005246582.1:c.*1786G>T, XM_017004170.2:c.*1786G>C, XM_017004170.2:c.*1786G>T, XM_017004170.1:c.*1786G>C, XM_017004170.1:c.*1786G>T, XM_047444442.1:c.*1786G>C, XM_047444442.1:c.*1786G>T, XM_047444452.1:c.*1786G>C, XM_047444452.1:c.*1786G>T, XM_047444451.1:c.*1786G>C, XM_047444451.1:c.*1786G>T, XM_047444468.1:c.*1786G>C, XM_047444468.1:c.*1786G>T, XM_047444453.1:c.*1786G>C, XM_047444453.1:c.*1786G>T, XM_047444454.1:c.*1786G>C, XM_047444454.1:c.*1786G>T, XM_047444456.1:c.*1786G>C, XM_047444456.1:c.*1786G>T, XM_047444467.1:c.*1786G>C, XM_047444467.1:c.*1786G>T, XM_047444443.1:c.*1786G>C, XM_047444443.1:c.*1786G>T, XM_047444457.1:c.*1786G>C, XM_047444457.1:c.*1786G>T, XM_047444469.1:c.*1786G>C, XM_047444469.1:c.*1786G>T, XM_047444476.1:c.*1786G>C, XM_047444476.1:c.*1786G>T, XM_047444460.1:c.*1786G>C, XM_047444460.1:c.*1786G>T, XM_047444448.1:c.*1786G>C, XM_047444448.1:c.*1786G>T, XM_047444461.1:c.*1786G>C, XM_047444461.1:c.*1786G>T, XM_047444447.1:c.*1786G>C, XM_047444447.1:c.*1786G>T, XM_047444444.1:c.*1786G>C, XM_047444444.1:c.*1786G>T, XM_047444446.1:c.*1786G>C, XM_047444446.1:c.*1786G>T, XM_047444459.1:c.*1786G>C, XM_047444459.1:c.*1786G>T, XM_047444445.1:c.*1786G>C, XM_047444445.1:c.*1786G>T, XM_047444458.1:c.*1786G>C, XM_047444458.1:c.*1786G>T, XM_047444470.1:c.*1786G>C, XM_047444470.1:c.*1786G>T, XM_047444471.1:c.*1786G>C, XM_047444471.1:c.*1786G>T, XM_047444466.1:c.*1786G>C, XM_047444466.1:c.*1786G>T, XM_047444472.1:c.*1786G>C, XM_047444472.1:c.*1786G>T, XM_047444465.1:c.*1786G>C, XM_047444465.1:c.*1786G>T, XM_047444450.1:c.*1786G>C, XM_047444450.1:c.*1786G>T, XM_047444449.1:c.*1786G>C, XM_047444449.1:c.*1786G>T, XM_047444462.1:c.*1786G>C, XM_047444462.1:c.*1786G>T, XM_047444464.1:c.*1786G>C, XM_047444464.1:c.*1786G>T, XM_047444473.1:c.*1786G>C, XM_047444473.1:c.*1786G>T, XM_047444474.1:c.*1786G>C, XM_047444474.1:c.*1786G>T, NM_001321313.1:c.*1786G>C, NM_001321313.1:c.*1786G>T, XM_017004174.1:c.*1786G>C, XM_017004174.1:c.*1786G>T, NM_001321314.1:c.*1786G>C, NM_001321314.1:c.*1786G>T, XM_047444475.1:c.*1786G>C, XM_047444475.1:c.*1786G>T, NM_001321315.1:c.*1786G>C, NM_001321315.1:c.*1786G>T

Select item 149035682618.

rs1490356826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:190650431 (GRCh38)
2:191515157 (GRCh37)
Canonical SPDI:: NC_000002.12:190650430:A:T
Gene:: NAB1 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190650431A>T, NC_000002.11:g.191515157A>T, XM_047444442.1:c.-5742A>T

Select item 149028327719.

rs1490283277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190658838 (GRCh38)
2:191523564 (GRCh37)
Canonical SPDI:: NC_000002.12:190658837:C:T
Gene:: NAB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.190658838C>T, NC_000002.11:g.191523564C>T

Select item 149025618820.

rs1490256188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:190653974 (GRCh38)
2:191518701 (GRCh37)
Canonical SPDI:: NC_000002.12:190653974:A:AA
Gene:: NAB1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000002.12:g.190653975dup, NC_000002.11:g.191518701dup, XM_047444442.1:c.-2198dup, XM_047444452.1:c.-2198dup, XM_047444451.1:c.-2198dup, XM_047444468.1:c.-2198dup, XM_047444453.1:c.-2198dup, XM_047444454.1:c.-2198dup, XM_047444456.1:c.-2198dup

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