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Select item 14915504291.

rs1491550429 has merged into rs34656379 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:179563681 (GRCh38)
5:178990682 (GRCh37)
Canonical SPDI:: NC_000005.10:179563680:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:179563680:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: RUFY1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.00005/1 (ALFA)
T=0.00006/1 (TOMMO)
-=0.0025/16 (1000Genomes)
HGVS:: NC_000005.10:g.179563691del, NC_000005.10:g.179563691dup, NC_000005.9:g.178990692del, NC_000005.9:g.178990692dup, NG_031967.1:g.18131del, NG_031967.1:g.18131dup, NW_016107298.1:g.328333del, NW_016107298.1:g.328333dup

Select item 14915431922.

rs1491543192 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179603265 (GRCh38)
5:179030266 (GRCh37)
Canonical SPDI:: NC_000005.10:179603264:CA:
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000026/1 (GnomAD)
HGVS:: NC_000005.10:g.179603265_179603266del, NC_000005.9:g.179030266_179030267del, NG_031967.1:g.57705_57706del, NW_016107298.1:g.369526_369527del

Select item 14915218663.

rs1491521866 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179594760 (GRCh38)
5:179021761 (GRCh37)
Canonical SPDI:: NC_000005.10:179594759:CA:
Gene:: RUFY1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00422/50 (ALFA)
HGVS:: NC_000005.10:g.179594760_179594761del, NC_000005.9:g.179021761_179021762del, NG_031967.1:g.49200_49201del, NW_016107298.1:g.361057dup, NW_016107298.1:g.361035del

Select item 14914421974.

rs1491442197 has merged into rs61062422 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:179579666 (GRCh38)
5:179006667 (GRCh37)
Canonical SPDI:: NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179579657:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RUFY1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.3482/1744 (1000Genomes)
HGVS:: NC_000005.10:g.179579666_179579679del, NC_000005.10:g.179579669_179579679del, NC_000005.10:g.179579670_179579679del, NC_000005.10:g.179579671_179579679del, NC_000005.10:g.179579672_179579679del, NC_000005.10:g.179579673_179579679del, NC_000005.10:g.179579674_179579679del, NC_000005.10:g.179579675_179579679del, NC_000005.10:g.179579676_179579679del, NC_000005.10:g.179579677_179579679del, NC_000005.10:g.179579678_179579679del, NC_000005.10:g.179579679del, NC_000005.10:g.179579679dup, NC_000005.10:g.179579678_179579679dup, NC_000005.10:g.179579677_179579679dup, NC_000005.10:g.179579676_179579679dup, NC_000005.10:g.179579675_179579679dup, NC_000005.10:g.179579674_179579679dup, NC_000005.10:g.179579673_179579679dup, NC_000005.10:g.179579672_179579679dup, NC_000005.10:g.179579671_179579679dup, NC_000005.10:g.179579670_179579679dup, NC_000005.10:g.179579669_179579679dup, NC_000005.10:g.179579668_179579679dup, NC_000005.10:g.179579667_179579679dup, NC_000005.10:g.179579666_179579679dup, NC_000005.10:g.179579665_179579679dup, NC_000005.10:g.179579664_179579679dup, NC_000005.10:g.179579663_179579679dup, NC_000005.10:g.179579662_179579679dup, NC_000005.10:g.179579661_179579679dup, NC_000005.10:g.179579660_179579679dup, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.179579679_179579680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006667_179006680del, NC_000005.9:g.179006670_179006680del, NC_000005.9:g.179006671_179006680del, NC_000005.9:g.179006672_179006680del, NC_000005.9:g.179006673_179006680del, NC_000005.9:g.179006674_179006680del, NC_000005.9:g.179006675_179006680del, NC_000005.9:g.179006676_179006680del, NC_000005.9:g.179006677_179006680del, NC_000005.9:g.179006678_179006680del, NC_000005.9:g.179006679_179006680del, NC_000005.9:g.179006680del, NC_000005.9:g.179006680dup, NC_000005.9:g.179006679_179006680dup, NC_000005.9:g.179006678_179006680dup, NC_000005.9:g.179006677_179006680dup, NC_000005.9:g.179006676_179006680dup, NC_000005.9:g.179006675_179006680dup, NC_000005.9:g.179006674_179006680dup, NC_000005.9:g.179006673_179006680dup, NC_000005.9:g.179006672_179006680dup, NC_000005.9:g.179006671_179006680dup, NC_000005.9:g.179006670_179006680dup, NC_000005.9:g.179006669_179006680dup, NC_000005.9:g.179006668_179006680dup, NC_000005.9:g.179006667_179006680dup, NC_000005.9:g.179006666_179006680dup, NC_000005.9:g.179006665_179006680dup, NC_000005.9:g.179006664_179006680dup, NC_000005.9:g.179006663_179006680dup, NC_000005.9:g.179006662_179006680dup, NC_000005.9:g.179006661_179006680dup, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.179006680_179006681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34106_34119del, NG_031967.1:g.34109_34119del, NG_031967.1:g.34110_34119del, NG_031967.1:g.34111_34119del, NG_031967.1:g.34112_34119del, NG_031967.1:g.34113_34119del, NG_031967.1:g.34114_34119del, NG_031967.1:g.34115_34119del, NG_031967.1:g.34116_34119del, NG_031967.1:g.34117_34119del, NG_031967.1:g.34118_34119del, NG_031967.1:g.34119del, NG_031967.1:g.34119dup, NG_031967.1:g.34118_34119dup, NG_031967.1:g.34117_34119dup, NG_031967.1:g.34116_34119dup, NG_031967.1:g.34115_34119dup, NG_031967.1:g.34114_34119dup, NG_031967.1:g.34113_34119dup, NG_031967.1:g.34112_34119dup, NG_031967.1:g.34111_34119dup, NG_031967.1:g.34110_34119dup, NG_031967.1:g.34109_34119dup, NG_031967.1:g.34108_34119dup, NG_031967.1:g.34107_34119dup, NG_031967.1:g.34106_34119dup, NG_031967.1:g.34105_34119dup, NG_031967.1:g.34104_34119dup, NG_031967.1:g.34103_34119dup, NG_031967.1:g.34102_34119dup, NG_031967.1:g.34101_34119dup, NG_031967.1:g.34100_34119dup, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031967.1:g.34119_34120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344321_344334del, NW_016107298.1:g.344324_344334del, NW_016107298.1:g.344325_344334del, NW_016107298.1:g.344326_344334del, NW_016107298.1:g.344327_344334del, NW_016107298.1:g.344328_344334del, NW_016107298.1:g.344329_344334del, NW_016107298.1:g.344330_344334del, NW_016107298.1:g.344331_344334del, NW_016107298.1:g.344332_344334del, NW_016107298.1:g.344333_344334del, NW_016107298.1:g.344334del, NW_016107298.1:g.344334dup, NW_016107298.1:g.344333_344334dup, NW_016107298.1:g.344332_344334dup, NW_016107298.1:g.344331_344334dup, NW_016107298.1:g.344330_344334dup, NW_016107298.1:g.344329_344334dup, NW_016107298.1:g.344328_344334dup, NW_016107298.1:g.344327_344334dup, NW_016107298.1:g.344326_344334dup, NW_016107298.1:g.344325_344334dup, NW_016107298.1:g.344324_344334dup, NW_016107298.1:g.344323_344334dup, NW_016107298.1:g.344322_344334dup, NW_016107298.1:g.344321_344334dup, NW_016107298.1:g.344320_344334dup, NW_016107298.1:g.344319_344334dup, NW_016107298.1:g.344318_344334dup, NW_016107298.1:g.344317_344334dup, NW_016107298.1:g.344316_344334dup, NW_016107298.1:g.344315_344334dup, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107298.1:g.344334_344335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914118135.

rs1491411813 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:179560751 (GRCh38)
5:178987752 (GRCh37)
Canonical SPDI:: NC_000005.10:179560749:AGA:A
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.179560751_179560752del, NC_000005.9:g.178987752_178987753del, NG_031967.1:g.15191_15192del, NW_016107298.1:g.325392_325393del

Select item 14913560016.

rs1491356001 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179601817 (GRCh38)
5:179028818 (GRCh37)
Canonical SPDI:: NC_000005.10:179601816:CA:
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.179601817_179601818del, NC_000005.9:g.179028818_179028819del, NG_031967.1:g.56257_56258del, NW_016107298.1:g.368104dup, NW_016107298.1:g.368089del

Select item 14913362687.

rs1491336268 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:179600714 (GRCh38)
5:179027715 (GRCh37)
Canonical SPDI:: NC_000005.10:179600713:TG:
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000239/27 (GnomAD)
-=0.002122/59 (TOMMO)
HGVS:: NC_000005.10:g.179600714_179600715del, NC_000005.9:g.179027715_179027716del, NG_031967.1:g.55154_55155del, NW_016107298.1:g.366986_366987del

Select item 14913012738.

rs1491301273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:179560750 (GRCh38)
5:178987752 (GRCh37)
Canonical SPDI:: NC_000005.10:179560750:G:GG
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.179560751dup, NC_000005.9:g.178987752dup, NG_031967.1:g.15191dup, NW_016107298.1:g.325392dup

Select item 14912838799.

rs1491283879 has merged into rs1228880111 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:179601532 (GRCh38)
5:179028533 (GRCh37)
Canonical SPDI:: NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:179601522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
TTT=0.001667/1 (NorthernSweden)
T=0.012233/205 (TOMMO)
HGVS:: NC_000005.10:g.179601532_179601536del, NC_000005.10:g.179601533_179601536del, NC_000005.10:g.179601534_179601536del, NC_000005.10:g.179601535_179601536del, NC_000005.10:g.179601536del, NC_000005.10:g.179601536dup, NC_000005.10:g.179601535_179601536dup, NC_000005.10:g.179601534_179601536dup, NC_000005.10:g.179601533_179601536dup, NC_000005.9:g.179028533_179028537del, NC_000005.9:g.179028534_179028537del, NC_000005.9:g.179028535_179028537del, NC_000005.9:g.179028536_179028537del, NC_000005.9:g.179028537del, NC_000005.9:g.179028537dup, NC_000005.9:g.179028536_179028537dup, NC_000005.9:g.179028535_179028537dup, NC_000005.9:g.179028534_179028537dup, NG_031967.1:g.55972_55976del, NG_031967.1:g.55973_55976del, NG_031967.1:g.55974_55976del, NG_031967.1:g.55975_55976del, NG_031967.1:g.55976del, NG_031967.1:g.55976dup, NG_031967.1:g.55975_55976dup, NG_031967.1:g.55974_55976dup, NG_031967.1:g.55973_55976dup, NW_016107298.1:g.367804_367808del, NW_016107298.1:g.367805_367808del, NW_016107298.1:g.367806_367808del, NW_016107298.1:g.367807_367808del, NW_016107298.1:g.367808del, NW_016107298.1:g.367808dup, NW_016107298.1:g.367807_367808dup, NW_016107298.1:g.367806_367808dup, NW_016107298.1:g.367805_367808dup

Select item 149127850610.

rs1491278506 has merged into rs398109726 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 5:179610469 (GRCh38)
5:179037470 (GRCh37)
Canonical SPDI:: NC_000005.10:179610466:TCTC:TC,NC_000005.10:179610466:TCTC:TCTCTC
Gene:: RUFY1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.179610467TC[1], NC_000005.10:g.179610467TC[3], NC_000005.9:g.179037468TC[1], NC_000005.9:g.179037468TC[3], NG_031967.1:g.64907TC[1], NG_031967.1:g.64907TC[3], NW_016107298.1:g.376728TC[1], NW_016107298.1:g.376728TC[3]

Select item 149123049611.

rs1491230496 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTTT,CTTTT [Show Flanks]
Chromosome:: 5:179579658 (GRCh38)
5:179006660 (GRCh37)
Canonical SPDI:: NC_000005.10:179579658:TTTT:TTTTCTTTCTTTT,NC_000005.10:179579658:TTTT:TTTTCTTTT
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTCTTTT=0./0 (ALFA)
TTTTCTTTC=0.000004/1 (TOPMED)
TTTTC=0.000055/1 (TOMMO)
HGVS:: NC_000005.10:g.179579659_179579662T[4]CTTT[2]T[1], NC_000005.10:g.179579659_179579662T[4]CTTTT[1], NC_000005.9:g.179006660_179006663T[4]CTTT[2]T[1], NC_000005.9:g.179006660_179006663T[4]CTTTT[1], NG_031967.1:g.34099_34102T[4]CTTT[2]T[1], NG_031967.1:g.34099_34102T[4]CTTTT[1], NW_016107298.1:g.344314_344317T[4]CTTT[2]T[1], NW_016107298.1:g.344314_344317T[4]CTTTT[1]

Select item 149118473612.

rs1491184736 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGATG,TTAAG,TTG,TTTTTG,TTTTTTG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG [Show Flanks]
Chromosome:: 5:179600714 (GRCh38)
5:179027716 (GRCh37)
Canonical SPDI:: NC_000005.10:179600714::TGATG,NC_000005.10:179600714::TTAAG,NC_000005.10:179600714::TTG,NC_000005.10:179600714::TTTTTG,NC_000005.10:179600714::TTTTTTG,NC_000005.10:179600714::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TTAAG=0.00083/23 (TOMMO)
HGVS:: NC_000005.10:g.179600714_179600715insTGATG, NC_000005.10:g.179600714_179600715insTTAAG, NC_000005.10:g.179600714_179600715insTTG, NC_000005.10:g.179600714_179600715insTTTTTG, NC_000005.10:g.179600714_179600715insTTTTTTG, NC_000005.10:g.179600714_179600715insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG, NC_000005.9:g.179027715_179027716insTGATG, NC_000005.9:g.179027715_179027716insTTAAG, NC_000005.9:g.179027715_179027716insTTG, NC_000005.9:g.179027715_179027716insTTTTTG, NC_000005.9:g.179027715_179027716insTTTTTTG, NC_000005.9:g.179027715_179027716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG, NG_031967.1:g.55154_55155insTGATG, NG_031967.1:g.55154_55155insTTAAG, NG_031967.1:g.55154_55155insTTG, NG_031967.1:g.55154_55155insTTTTTG, NG_031967.1:g.55154_55155insTTTTTTG, NG_031967.1:g.55154_55155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG, NW_016107298.1:g.366986_366987insTGATG, NW_016107298.1:g.366986_366987insTTAAG, NW_016107298.1:g.366986_366987insTTG, NW_016107298.1:g.366986_366987insTTTTTG, NW_016107298.1:g.366986_366987insTTTTTTG, NW_016107298.1:g.366986_366987insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG

Select item 149118009913.

rs1491180099 has merged into rs59142888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:179566640 (GRCh38)
5:178993641 (GRCh37)
Canonical SPDI:: NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179566625:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RUFY1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3452/1729 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000005.10:g.179566640_179566642del, NC_000005.10:g.179566641_179566642del, NC_000005.10:g.179566642del, NC_000005.10:g.179566642dup, NC_000005.10:g.179566641_179566642dup, NC_000005.10:g.179566639_179566642dup, NC_000005.10:g.179566638_179566642dup, NC_000005.10:g.179566632_179566642dup, NC_000005.9:g.178993641_178993643del, NC_000005.9:g.178993642_178993643del, NC_000005.9:g.178993643del, NC_000005.9:g.178993643dup, NC_000005.9:g.178993642_178993643dup, NC_000005.9:g.178993640_178993643dup, NC_000005.9:g.178993639_178993643dup, NC_000005.9:g.178993633_178993643dup, NG_031967.1:g.21080_21082del, NG_031967.1:g.21081_21082del, NG_031967.1:g.21082del, NG_031967.1:g.21082dup, NG_031967.1:g.21081_21082dup, NG_031967.1:g.21079_21082dup, NG_031967.1:g.21078_21082dup, NG_031967.1:g.21072_21082dup, NW_016107298.1:g.331283_331285del, NW_016107298.1:g.331284_331285del, NW_016107298.1:g.331285del, NW_016107298.1:g.331285dup, NW_016107298.1:g.331284_331285dup, NW_016107298.1:g.331282_331285dup, NW_016107298.1:g.331281_331285dup, NW_016107298.1:g.331275_331285dup

Select item 149117655014.

rs1491176550 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:179601523 (GRCh38)
5:179028525 (GRCh37)
Canonical SPDI:: NC_000005.10:179601523::C
Gene:: RUFY1 (Varview), RUFY1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD)
HGVS:: NC_000005.10:g.179601523_179601524insC, NC_000005.9:g.179028524_179028525insC, NG_031967.1:g.55963_55964insC, NW_016107298.1:g.367795_367796insC

Select item 149112479015.

rs1491124790 [Homo sapiens]

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

Select item 149109967016.

rs1491099670 has merged into rs71001004 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:179561687 (GRCh38)
5:178988688 (GRCh37)
Canonical SPDI:: NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:179561678:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0.025/1 (GENOME_DK)
HGVS:: NC_000005.10:g.179561687_179561703del, NC_000005.10:g.179561688_179561703del, NC_000005.10:g.179561689_179561703del, NC_000005.10:g.179561690_179561703del, NC_000005.10:g.179561691_179561703del, NC_000005.10:g.179561692_179561703del, NC_000005.10:g.179561693_179561703del, NC_000005.10:g.179561694_179561703del, NC_000005.10:g.179561695_179561703del, NC_000005.10:g.179561696_179561703del, NC_000005.10:g.179561697_179561703del, NC_000005.10:g.179561698_179561703del, NC_000005.10:g.179561699_179561703del, NC_000005.10:g.179561700_179561703del, NC_000005.10:g.179561701_179561703del, NC_000005.10:g.179561702_179561703del, NC_000005.10:g.179561703del, NC_000005.10:g.179561703dup, NC_000005.10:g.179561702_179561703dup, NC_000005.10:g.179561701_179561703dup, NC_000005.10:g.179561700_179561703dup, NC_000005.10:g.179561699_179561703dup, NC_000005.10:g.179561698_179561703dup, NC_000005.10:g.179561697_179561703dup, NC_000005.10:g.179561696_179561703dup, NC_000005.10:g.179561695_179561703dup, NC_000005.10:g.179561694_179561703dup, NC_000005.10:g.179561693_179561703dup, NC_000005.10:g.179561692_179561703dup, NC_000005.10:g.179561691_179561703dup, NC_000005.10:g.179561689_179561703dup, NC_000005.10:g.179561688_179561703dup, NC_000005.10:g.179561687_179561703dup, NC_000005.10:g.179561680_179561703dup, NC_000005.9:g.178988688_178988704del, NC_000005.9:g.178988689_178988704del, NC_000005.9:g.178988690_178988704del, NC_000005.9:g.178988691_178988704del, NC_000005.9:g.178988692_178988704del, NC_000005.9:g.178988693_178988704del, NC_000005.9:g.178988694_178988704del, NC_000005.9:g.178988695_178988704del, NC_000005.9:g.178988696_178988704del, NC_000005.9:g.178988697_178988704del, NC_000005.9:g.178988698_178988704del, NC_000005.9:g.178988699_178988704del, NC_000005.9:g.178988700_178988704del, NC_000005.9:g.178988701_178988704del, NC_000005.9:g.178988702_178988704del, NC_000005.9:g.178988703_178988704del, NC_000005.9:g.178988704del, NC_000005.9:g.178988704dup, NC_000005.9:g.178988703_178988704dup, NC_000005.9:g.178988702_178988704dup, NC_000005.9:g.178988701_178988704dup, NC_000005.9:g.178988700_178988704dup, NC_000005.9:g.178988699_178988704dup, NC_000005.9:g.178988698_178988704dup, NC_000005.9:g.178988697_178988704dup, NC_000005.9:g.178988696_178988704dup, NC_000005.9:g.178988695_178988704dup, NC_000005.9:g.178988694_178988704dup, NC_000005.9:g.178988693_178988704dup, NC_000005.9:g.178988692_178988704dup, NC_000005.9:g.178988690_178988704dup, NC_000005.9:g.178988689_178988704dup, NC_000005.9:g.178988688_178988704dup, NC_000005.9:g.178988681_178988704dup, NG_031967.1:g.16127_16143del, NG_031967.1:g.16128_16143del, NG_031967.1:g.16129_16143del, NG_031967.1:g.16130_16143del, NG_031967.1:g.16131_16143del, NG_031967.1:g.16132_16143del, NG_031967.1:g.16133_16143del, NG_031967.1:g.16134_16143del, NG_031967.1:g.16135_16143del, NG_031967.1:g.16136_16143del, NG_031967.1:g.16137_16143del, NG_031967.1:g.16138_16143del, NG_031967.1:g.16139_16143del, NG_031967.1:g.16140_16143del, NG_031967.1:g.16141_16143del, NG_031967.1:g.16142_16143del, NG_031967.1:g.16143del, NG_031967.1:g.16143dup, NG_031967.1:g.16142_16143dup, NG_031967.1:g.16141_16143dup, NG_031967.1:g.16140_16143dup, NG_031967.1:g.16139_16143dup, NG_031967.1:g.16138_16143dup, NG_031967.1:g.16137_16143dup, NG_031967.1:g.16136_16143dup, NG_031967.1:g.16135_16143dup, NG_031967.1:g.16134_16143dup, NG_031967.1:g.16133_16143dup, NG_031967.1:g.16132_16143dup, NG_031967.1:g.16131_16143dup, NG_031967.1:g.16129_16143dup, NG_031967.1:g.16128_16143dup, NG_031967.1:g.16127_16143dup, NG_031967.1:g.16120_16143dup, NW_016107298.1:g.326329_326345del, NW_016107298.1:g.326330_326345del, NW_016107298.1:g.326331_326345del, NW_016107298.1:g.326332_326345del, NW_016107298.1:g.326333_326345del, NW_016107298.1:g.326334_326345del, NW_016107298.1:g.326335_326345del, NW_016107298.1:g.326336_326345del, NW_016107298.1:g.326337_326345del, NW_016107298.1:g.326338_326345del, NW_016107298.1:g.326339_326345del, NW_016107298.1:g.326340_326345del, NW_016107298.1:g.326341_326345del, NW_016107298.1:g.326342_326345del, NW_016107298.1:g.326343_326345del, NW_016107298.1:g.326344_326345del, NW_016107298.1:g.326345del, NW_016107298.1:g.326345dup, NW_016107298.1:g.326344_326345dup, NW_016107298.1:g.326343_326345dup, NW_016107298.1:g.326342_326345dup, NW_016107298.1:g.326341_326345dup, NW_016107298.1:g.326340_326345dup, NW_016107298.1:g.326339_326345dup, NW_016107298.1:g.326338_326345dup, NW_016107298.1:g.326337_326345dup, NW_016107298.1:g.326336_326345dup, NW_016107298.1:g.326335_326345dup, NW_016107298.1:g.326334_326345dup, NW_016107298.1:g.326333_326345dup, NW_016107298.1:g.326331_326345dup, NW_016107298.1:g.326330_326345dup, NW_016107298.1:g.326329_326345dup, NW_016107298.1:g.326322_326345dup

Select item 149105051217.

rs1491050512 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:179566643 (GRCh38)
5:178993644 (GRCh37)
Canonical SPDI:: NC_000005.10:179566641:AGA:A
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179566643_179566644del, NC_000005.9:g.178993644_178993645del, NG_031967.1:g.21083_21084del, NW_016107298.1:g.331286_331287del

Select item 149104025918.

rs1491040259 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 5:179610464 (GRCh38)
5:179037466 (GRCh37)
Canonical SPDI:: NC_000005.10:179610464::GA
Gene:: RUFY1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179610464_179610465insGA, NC_000005.9:g.179037465_179037466insGA, NG_031967.1:g.64904_64905insGA, NW_016107298.1:g.376725_376726insGA

Select item 149103919119.

rs1491039191 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:179555624 (GRCh38)
5:178982626 (GRCh37)
Canonical SPDI:: NC_000005.10:179555624::A
Gene:: RUFY1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000005.10:g.179555624_179555625insA, NC_000005.9:g.178982625_178982626insA, NG_031967.1:g.10064_10065insA, NW_016107298.1:g.320265_320266insA

Select item 149103481720.

rs1491034817 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:179609200 (GRCh38)
5:179036202 (GRCh37)
Canonical SPDI:: NC_000005.10:179609200:T:TT
Gene:: RUFY1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00009/5 (GnomAD)
T=0.00349/55 (TOMMO)
T=0.00654/11 (Korea1K)
HGVS:: NC_000005.10:g.179609201dup, NC_000005.9:g.179036202dup, NG_031967.1:g.63641dup, NW_016107298.1:g.375461dup

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