SNP Links for Gene (Select 339500) - SNP

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Select item 14915785401.

rs1491578540 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:227606026 (GRCh38)
1:227793727 (GRCh37)
Canonical SPDI:: NC_000001.11:227606025:CT:
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.227606026_227606027del, NC_000001.10:g.227793727_227793728del

Select item 14914490702.

rs1491449070 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:227671091 (GRCh38)
1:227858793 (GRCh37)
Canonical SPDI:: NC_000001.11:227671091:C:CC
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00005/5 (GnomAD)
HGVS:: NC_000001.11:g.227671092dup, NC_000001.10:g.227858793dup

Select item 14914240133.

rs1491424013 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:227660256 (GRCh38)
1:227847958 (GRCh37)
Canonical SPDI:: NC_000001.11:227660256:G:GG
Gene:: ZNF678 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.001083/135 (GnomAD)
HGVS:: NC_000001.11:g.227660257dup, NC_000001.10:g.227847958dup, NM_178549.4:c.*4429dup, NM_178549.3:c.*4429dup, NM_001367910.1:c.*4429dup, NR_033184.1:n.6376dup, NM_001367909.1:c.*4429dup, NM_001367911.1:c.*4429dup

Select item 14913478784.

rs1491347878 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:227593868 (GRCh38)
1:227781570 (GRCh37)
Canonical SPDI:: NC_000001.11:227593868::C
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00012/1 (GnomAD)
HGVS:: NC_000001.11:g.227593868_227593869insC, NC_000001.10:g.227781569_227781570insC

Select item 14913471365.

rs1491347136 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGG [Show Flanks]
Chromosome:: 1:227606026 (GRCh38)
1:227793728 (GRCh37)
Canonical SPDI:: NC_000001.11:227606026::GGG
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000071/1 (ALFA)
GGG=0.000011/3 (TOPMED)
GGG=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.227606026_227606027insGGG, NC_000001.10:g.227793727_227793728insGGG

Select item 14913161166.

rs1491316116 has merged into rs1357304195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:227593879 (GRCh38)
1:227781580 (GRCh37)
Canonical SPDI:: NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.227593879_227593881del, NC_000001.11:g.227593880_227593881del, NC_000001.11:g.227593881del, NC_000001.11:g.227593881dup, NC_000001.11:g.227593880_227593881dup, NC_000001.10:g.227781580_227781582del, NC_000001.10:g.227781581_227781582del, NC_000001.10:g.227781582del, NC_000001.10:g.227781582dup, NC_000001.10:g.227781581_227781582dup

Select item 14912903197.

rs1491290319 has merged into rs869291462 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:227671092 (GRCh38)
1:227858793 (GRCh37)
Canonical SPDI:: NC_000001.11:227671090:TCT:T
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
-=0.000073/10 (GnomAD)
-=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.227671092_227671093del, NC_000001.10:g.227858793_227858794del

Select item 14912791518.

rs1491279151 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:227659893 (GRCh38)
1:227847595 (GRCh37)
Canonical SPDI:: NC_000001.11:227659893::T
Gene:: ZNF678 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/4 (GnomAD)
T=0.00053/9 (TOMMO)
HGVS:: NC_000001.11:g.227659893_227659894insT, NC_000001.10:g.227847594_227847595insT, NM_178549.4:c.*4065_*4066insT, NM_178549.3:c.*4065_*4066insT, NM_001367910.1:c.*4065_*4066insT, NR_033184.1:n.6012_6013insT, NM_001367909.1:c.*4065_*4066insT, NM_001367911.1:c.*4065_*4066insT

Select item 14912735989.

rs1491273598 has merged into rs1357304195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:227593879 (GRCh38)
1:227781580 (GRCh37)
Canonical SPDI:: NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:227593867:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.227593879_227593881del, NC_000001.11:g.227593880_227593881del, NC_000001.11:g.227593881del, NC_000001.11:g.227593881dup, NC_000001.11:g.227593880_227593881dup, NC_000001.10:g.227781580_227781582del, NC_000001.10:g.227781581_227781582del, NC_000001.10:g.227781582del, NC_000001.10:g.227781582dup, NC_000001.10:g.227781581_227781582dup

Select item 149127029110.

rs1491270291 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:227633554 (GRCh38)
1:227821255 (GRCh37)
Canonical SPDI:: NC_000001.11:227633552:TTT:T
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.227633554_227633555del, NC_000001.10:g.227821255_227821256del

Select item 149121473611.

rs1491214736 has merged into rs554280668 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:227643873 (GRCh38)
1:227831574 (GRCh37)
Canonical SPDI:: NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:227643863:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.32188/1612 (1000Genomes)
HGVS:: NC_000001.11:g.227643873_227643881del, NC_000001.11:g.227643874_227643881del, NC_000001.11:g.227643875_227643881del, NC_000001.11:g.227643876_227643881del, NC_000001.11:g.227643877_227643881del, NC_000001.11:g.227643878_227643881del, NC_000001.11:g.227643879_227643881del, NC_000001.11:g.227643880_227643881del, NC_000001.11:g.227643881del, NC_000001.11:g.227643881dup, NC_000001.11:g.227643880_227643881dup, NC_000001.11:g.227643879_227643881dup, NC_000001.11:g.227643878_227643881dup, NC_000001.11:g.227643877_227643881dup, NC_000001.11:g.227643876_227643881dup, NC_000001.11:g.227643875_227643881dup, NC_000001.11:g.227643874_227643881dup, NC_000001.11:g.227643873_227643881dup, NC_000001.11:g.227643872_227643881dup, NC_000001.11:g.227643871_227643881dup, NC_000001.11:g.227643870_227643881dup, NC_000001.11:g.227643869_227643881dup, NC_000001.11:g.227643868_227643881dup, NC_000001.11:g.227643867_227643881dup, NC_000001.11:g.227643866_227643881dup, NC_000001.11:g.227643865_227643881dup, NC_000001.11:g.227643864_227643881dup, NC_000001.11:g.227643881_227643882insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.227643881_227643882insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.227643881_227643882insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.227831574_227831582del, NC_000001.10:g.227831575_227831582del, NC_000001.10:g.227831576_227831582del, NC_000001.10:g.227831577_227831582del, NC_000001.10:g.227831578_227831582del, NC_000001.10:g.227831579_227831582del, NC_000001.10:g.227831580_227831582del, NC_000001.10:g.227831581_227831582del, NC_000001.10:g.227831582del, NC_000001.10:g.227831582dup, NC_000001.10:g.227831581_227831582dup, NC_000001.10:g.227831580_227831582dup, NC_000001.10:g.227831579_227831582dup, NC_000001.10:g.227831578_227831582dup, NC_000001.10:g.227831577_227831582dup, NC_000001.10:g.227831576_227831582dup, NC_000001.10:g.227831575_227831582dup, NC_000001.10:g.227831574_227831582dup, NC_000001.10:g.227831573_227831582dup, NC_000001.10:g.227831572_227831582dup, NC_000001.10:g.227831571_227831582dup, NC_000001.10:g.227831570_227831582dup, NC_000001.10:g.227831569_227831582dup, NC_000001.10:g.227831568_227831582dup, NC_000001.10:g.227831567_227831582dup, NC_000001.10:g.227831566_227831582dup, NC_000001.10:g.227831565_227831582dup, NC_000001.10:g.227831582_227831583insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.227831582_227831583insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.227831582_227831583insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149115259212.

rs1491152592 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:227646532 (GRCh38)
1:227834233 (GRCh37)
Canonical SPDI:: NC_000001.11:227646531:TC:
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000066/7 (GnomAD)
-=0.000156/13 (ExAC)
-=0.000575/1 (Korea1K)
HGVS:: NC_000001.11:g.227646532_227646533del, NC_000001.10:g.227834233_227834234del

Select item 149112039013.

rs1491120390 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:227635563 (GRCh38)
1:227823265 (GRCh37)
Canonical SPDI:: NC_000001.11:227635563:TA:TATA
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.227635564_227635565dup, NC_000001.10:g.227823265_227823266dup

Select item 149111456114.

rs1491114561 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:227650357 (GRCh38)
1:227838058 (GRCh37)
Canonical SPDI:: NC_000001.11:227650356:TTTTTTT:TTTTTT,NC_000001.11:227650356:TTTTTTT:TTTTTTTT
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000142/2 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000125/33 (TOPMED)
-=0.000129/18 (GnomAD)
HGVS:: NC_000001.11:g.227650363del, NC_000001.11:g.227650363dup, NC_000001.10:g.227838064del, NC_000001.10:g.227838064dup

Select item 149097389215.

rs1490973892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:227594416 (GRCh38)
1:227782117 (GRCh37)
Canonical SPDI:: NC_000001.11:227594415:A:G
Gene:: ZNF678 (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_000001.11:g.227594416A>G, NC_000001.10:g.227782117A>G

Select item 149096483216.

rs1490964832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227613391 (GRCh38)
1:227801092 (GRCh37)
Canonical SPDI:: NC_000001.11:227613390:C:T
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.227613391C>T, NC_000001.10:g.227801092C>T

Select item 149095488817.

rs1490954888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227666927 (GRCh38)
1:227854628 (GRCh37)
Canonical SPDI:: NC_000001.11:227666926:G:A
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.227666927G>A, NC_000001.10:g.227854628G>A

Select item 149095032218.

rs1490950322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:227610518 (GRCh38)
1:227798219 (GRCh37)
Canonical SPDI:: NC_000001.11:227610517:T:C
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.227610518T>C, NC_000001.10:g.227798219T>C

Select item 149094219319.

rs1490942193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:227576341 (GRCh38)
1:227764043 (GRCh37)
Canonical SPDI:: NC_000001.11:227576341:ACA:ACACA
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0.000071/1 (ALFA)
AC=0.000014/2 (GnomAD)
AC=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.227576343_227576344dup, NC_000001.10:g.227764044_227764045dup

Select item 149087154820.

rs1490871548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:227635201 (GRCh38)
1:227822902 (GRCh37)
Canonical SPDI:: NC_000001.11:227635200:A:C
Gene:: ZNF678 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.227635201A>C, NC_000001.10:g.227822902A>C

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