SNP Links for Gene (Select 30000) - SNP

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Select item 14914696871.

rs1491469687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:12703186 (GRCh38)
19:12814000 (GRCh37)
Canonical SPDI:: NC_000019.10:12703184:AAA:A
Gene:: TNPO2 (Varview), SNORD135 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
-=0.000221/31 (GnomAD)
-=0.000238/63 (TOPMED)
HGVS:: NC_000019.10:g.12703186_12703187del, NC_000019.9:g.12814000_12814001del

Select item 14914433222.

rs1491443322 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 19:12722595 (GRCh38)
19:12833410 (GRCh37)
Canonical SPDI:: NC_000019.10:12722595:AA:AAGAA
Gene:: TNPO2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.12722597_12722598insGAA, NC_000019.9:g.12833411_12833412insGAA, NM_001136196.1:c.-133_-132insCTT

Select item 14914346873.

rs1491434687 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:12715590 (GRCh38)
19:12826404 (GRCh37)
Canonical SPDI:: NC_000019.10:12715589:GC:
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.12715590_12715591del, NC_000019.9:g.12826404_12826405del

Select item 14913922714.

rs1491392271 [Homo sapiens]

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

Select item 14913776215.

rs1491377621 has merged into rs554725285 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:12717283 (GRCh38)
19:12828097 (GRCh37)
Canonical SPDI:: NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12717268:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.01977/99 (1000Genomes)
HGVS:: NC_000019.10:g.12717283_12717289del, NC_000019.10:g.12717284_12717289del, NC_000019.10:g.12717285_12717289del, NC_000019.10:g.12717286_12717289del, NC_000019.10:g.12717287_12717289del, NC_000019.10:g.12717288_12717289del, NC_000019.10:g.12717289del, NC_000019.10:g.12717289dup, NC_000019.10:g.12717288_12717289dup, NC_000019.10:g.12717287_12717289dup, NC_000019.10:g.12717286_12717289dup, NC_000019.10:g.12717285_12717289dup, NC_000019.10:g.12717284_12717289dup, NC_000019.10:g.12717280_12717289dup, NC_000019.9:g.12828097_12828103del, NC_000019.9:g.12828098_12828103del, NC_000019.9:g.12828099_12828103del, NC_000019.9:g.12828100_12828103del, NC_000019.9:g.12828101_12828103del, NC_000019.9:g.12828102_12828103del, NC_000019.9:g.12828103del, NC_000019.9:g.12828103dup, NC_000019.9:g.12828102_12828103dup, NC_000019.9:g.12828101_12828103dup, NC_000019.9:g.12828100_12828103dup, NC_000019.9:g.12828099_12828103dup, NC_000019.9:g.12828098_12828103dup, NC_000019.9:g.12828094_12828103dup

Select item 14913409376.

rs1491340937 has merged into rs1044096077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:12725113 (GRCh38)
19:12835927 (GRCh37)
Canonical SPDI:: NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12725104:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TNPO2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.12725113_12725141del, NC_000019.10:g.12725116_12725141del, NC_000019.10:g.12725118_12725141del, NC_000019.10:g.12725119_12725141del, NC_000019.10:g.12725120_12725141del, NC_000019.10:g.12725121_12725141del, NC_000019.10:g.12725122_12725141del, NC_000019.10:g.12725123_12725141del, NC_000019.10:g.12725124_12725141del, NC_000019.10:g.12725125_12725141del, NC_000019.10:g.12725126_12725141del, NC_000019.10:g.12725127_12725141del, NC_000019.10:g.12725128_12725141del, NC_000019.10:g.12725129_12725141del, NC_000019.10:g.12725130_12725141del, NC_000019.10:g.12725131_12725141del, NC_000019.10:g.12725132_12725141del, NC_000019.10:g.12725133_12725141del, NC_000019.10:g.12725134_12725141del, NC_000019.10:g.12725135_12725141del, NC_000019.10:g.12725136_12725141del, NC_000019.10:g.12725137_12725141del, NC_000019.10:g.12725138_12725141del, NC_000019.10:g.12725139_12725141del, NC_000019.10:g.12725140_12725141del, NC_000019.10:g.12725141del, NC_000019.10:g.12725141dup, NC_000019.10:g.12725140_12725141dup, NC_000019.10:g.12725139_12725141dup, NC_000019.10:g.12725137_12725141dup, NC_000019.10:g.12725135_12725141dup, NC_000019.10:g.12725134_12725141dup, NC_000019.10:g.12725132_12725141dup, NC_000019.10:g.12725125_12725141dup, NC_000019.10:g.12725123_12725141dup, NC_000019.10:g.12725122_12725141dup, NC_000019.10:g.12725121_12725141dup, NC_000019.10:g.12725120_12725141dup, NC_000019.10:g.12725119_12725141dup, NC_000019.10:g.12725118_12725141dup, NC_000019.10:g.12725117_12725141dup, NC_000019.10:g.12725116_12725141dup, NC_000019.10:g.12725115_12725141dup, NC_000019.10:g.12725114_12725141dup, NC_000019.10:g.12725113_12725141dup, NC_000019.10:g.12725112_12725141dup, NC_000019.10:g.12725111_12725141dup, NC_000019.10:g.12725108_12725141dup, NC_000019.9:g.12835927_12835955del, NC_000019.9:g.12835930_12835955del, NC_000019.9:g.12835932_12835955del, NC_000019.9:g.12835933_12835955del, NC_000019.9:g.12835934_12835955del, NC_000019.9:g.12835935_12835955del, NC_000019.9:g.12835936_12835955del, NC_000019.9:g.12835937_12835955del, NC_000019.9:g.12835938_12835955del, NC_000019.9:g.12835939_12835955del, NC_000019.9:g.12835940_12835955del, NC_000019.9:g.12835941_12835955del, NC_000019.9:g.12835942_12835955del, NC_000019.9:g.12835943_12835955del, NC_000019.9:g.12835944_12835955del, NC_000019.9:g.12835945_12835955del, NC_000019.9:g.12835946_12835955del, NC_000019.9:g.12835947_12835955del, NC_000019.9:g.12835948_12835955del, NC_000019.9:g.12835949_12835955del, NC_000019.9:g.12835950_12835955del, NC_000019.9:g.12835951_12835955del, NC_000019.9:g.12835952_12835955del, NC_000019.9:g.12835953_12835955del, NC_000019.9:g.12835954_12835955del, NC_000019.9:g.12835955del, NC_000019.9:g.12835955dup, NC_000019.9:g.12835954_12835955dup, NC_000019.9:g.12835953_12835955dup, NC_000019.9:g.12835951_12835955dup, NC_000019.9:g.12835949_12835955dup, NC_000019.9:g.12835948_12835955dup, NC_000019.9:g.12835946_12835955dup, NC_000019.9:g.12835939_12835955dup, NC_000019.9:g.12835937_12835955dup, NC_000019.9:g.12835936_12835955dup, NC_000019.9:g.12835935_12835955dup, NC_000019.9:g.12835934_12835955dup, NC_000019.9:g.12835933_12835955dup, NC_000019.9:g.12835932_12835955dup, NC_000019.9:g.12835931_12835955dup, NC_000019.9:g.12835930_12835955dup, NC_000019.9:g.12835929_12835955dup, NC_000019.9:g.12835928_12835955dup, NC_000019.9:g.12835927_12835955dup, NC_000019.9:g.12835926_12835955dup, NC_000019.9:g.12835925_12835955dup, NC_000019.9:g.12835922_12835955dup

Select item 14911937897.

rs1491193789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:12725447 (GRCh38)
19:12836261 (GRCh37)
Canonical SPDI:: NC_000019.10:12725445:TAT:T
Gene:: TNPO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.12725447_12725448del, NC_000019.9:g.12836261_12836262del

Select item 14911389478.

rs1491138947 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:12717269 (GRCh38)
19:12828084 (GRCh37)
Canonical SPDI:: NC_000019.10:12717269::C
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.12717269_12717270insC, NC_000019.9:g.12828083_12828084insC

Select item 14909814669.

rs1490981466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:12721250 (GRCh38)
19:12832064 (GRCh37)
Canonical SPDI:: NC_000019.10:12721249:T:A,NC_000019.10:12721249:T:C
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000058/2 (GnomAD_exomes)
A=0.000564/1 (Korea1K)
HGVS:: NC_000019.10:g.12721250T>A, NC_000019.10:g.12721250T>C, NC_000019.9:g.12832064T>A, NC_000019.9:g.12832064T>C

Select item 149096131210.

rs1490961312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:12718419 (GRCh38)
19:12829233 (GRCh37)
Canonical SPDI:: NC_000019.10:12718418:C:G
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.12718419C>G, NC_000019.9:g.12829233C>G

Select item 149080989811.

rs1490809898 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATAAATAAACA>- [Show Flanks]
Chromosome:: 19:12713506 (GRCh38)
19:12824320 (GRCh37)
Canonical SPDI:: NC_000019.10:12713504:AAATAAATAAATAAACA:A
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006997/83 (ALFA)
-=0.008333/1123 (GnomAD)
-=0.008432/54 (1000Genomes)
HGVS:: NC_000019.10:g.12713506_12713521del, NC_000019.9:g.12824320_12824335del

Select item 149077261312.

rs1490772613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12725594 (GRCh38)
19:12836408 (GRCh37)
Canonical SPDI:: NC_000019.10:12725593:C:T
Gene:: TNPO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.12725594C>T, NC_000019.9:g.12836408C>T

Select item 149075768813.

rs1490757688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAATT [Show Flanks]
Chromosome:: 19:12724952 (GRCh38)
19:12835767 (GRCh37)
Canonical SPDI:: NC_000019.10:12724952:CTAATT:CTAATTCTAATT
Gene:: TNPO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTAATTCTAATT=0./0 (ALFA)
HGVS:: NC_000019.10:g.12724953_12724958dup, NC_000019.9:g.12835767_12835772dup

Select item 149059412014.

rs1490594120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:12725186 (GRCh38)
19:12836000 (GRCh37)
Canonical SPDI:: NC_000019.10:12725185:G:A,NC_000019.10:12725185:G:C
Gene:: TNPO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.12725186G>A, NC_000019.10:g.12725186G>C, NC_000019.9:g.12836000G>A, NC_000019.9:g.12836000G>C

Select item 149051044315.

rs1490510443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12711057 (GRCh38)
19:12821871 (GRCh37)
Canonical SPDI:: NC_000019.10:12711056:A:G
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.12711057A>G, NC_000019.9:g.12821871A>G

Select item 149041846816.

rs1490418468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:12720861 (GRCh38)
19:12831675 (GRCh37)
Canonical SPDI:: NC_000019.10:12720860:G:A,NC_000019.10:12720860:G:C
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12720861G>A, NC_000019.10:g.12720861G>C, NC_000019.9:g.12831675G>A, NC_000019.9:g.12831675G>C

Select item 149026495317.

rs1490264953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12724619 (GRCh38)
19:12835433 (GRCh37)
Canonical SPDI:: NC_000019.10:12724618:G:C
Gene:: TNPO2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.12724619G>C, NC_000019.9:g.12835433G>C

Select item 149010412018.

rs1490104120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12700875 (GRCh38)
19:12811689 (GRCh37)
Canonical SPDI:: NC_000019.10:12700874:T:C
Gene:: TNPO2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12700875T>C, NC_000019.9:g.12811689T>C, NM_013433.5:c.*389A>G, NM_013433.4:c.*389A>G, NM_001136195.2:c.*389A>G, NM_001136195.1:c.*389A>G, NM_001136196.2:c.*389A>G, NM_001136196.1:c.*389A>G, NM_001382241.1:c.*389A>G, NM_001382240.1:c.*389A>G, NR_167976.1:n.3348A>G, NM_001382237.1:c.*389A>G, NM_001382236.1:c.*389A>G, NR_167975.1:n.3319A>G, NR_167977.1:n.3318A>G, NM_001382238.1:c.*389A>G, NM_001382242.1:c.*389A>G, NR_167974.1:n.3194A>G, NR_167979.1:n.3163A>G, NM_001382239.1:c.*389A>G, NM_001382243.1:c.*389A>G, NR_167978.1:n.2895A>G

Select item 149005894419.

rs1490058944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12720938 (GRCh38)
19:12831752 (GRCh37)
Canonical SPDI:: NC_000019.10:12720937:G:A
Gene:: TNPO2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.12720938G>A, NC_000019.9:g.12831752G>A, NM_013433.5:c.40C>T, NM_013433.4:c.40C>T, NM_001136195.2:c.40C>T, NM_001136195.1:c.40C>T, NM_001136196.2:c.40C>T, NM_001136196.1:c.40C>T, NM_001382241.1:c.40C>T, NM_001382240.1:c.40C>T, NR_167976.1:n.334C>T, NM_001382237.1:c.40C>T, NM_001382236.1:c.40C>T, NR_167975.1:n.334C>T, NR_167977.1:n.334C>T, NM_001382238.1:c.40C>T, NM_001382242.1:c.40C>T, NR_167974.1:n.179C>T, NR_167979.1:n.179C>T, NM_001382239.1:c.40C>T, NM_001382243.1:c.40C>T, NR_167978.1:n.137C>T

Select item 148979600920.

rs1489796009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:12717034 (GRCh38)
19:12827848 (GRCh37)
Canonical SPDI:: NC_000019.10:12717033:A:C,NC_000019.10:12717033:A:G
Gene:: TNPO2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.12717034A>C, NC_000019.10:g.12717034A>G, NC_000019.9:g.12827848A>C, NC_000019.9:g.12827848A>G

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