SNP Links for Gene (Select 6293) - SNP

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Select item 14915720381.

rs1491572038 has merged into rs9280381 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:33253506 (GRCh38)
6:33221283 (GRCh37)
Canonical SPDI:: NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33253492:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2236/1120 (1000Genomes)
HGVS:: NC_000006.12:g.33253506_33253511del, NC_000006.12:g.33253508_33253511del, NC_000006.12:g.33253509_33253511del, NC_000006.12:g.33253510_33253511del, NC_000006.12:g.33253511del, NC_000006.12:g.33253511dup, NC_000006.12:g.33253510_33253511dup, NC_000006.12:g.33253509_33253511dup, NC_000006.11:g.33221283_33221288del, NC_000006.11:g.33221285_33221288del, NC_000006.11:g.33221286_33221288del, NC_000006.11:g.33221287_33221288del, NC_000006.11:g.33221288del, NC_000006.11:g.33221288dup, NC_000006.11:g.33221287_33221288dup, NC_000006.11:g.33221286_33221288dup, NT_113891.3:g.4665003_4665008del, NT_113891.3:g.4665005_4665008del, NT_113891.3:g.4665006_4665008del, NT_113891.3:g.4665007_4665008del, NT_113891.3:g.4665008del, NT_113891.3:g.4665008dup, NT_113891.3:g.4665007_4665008dup, NT_113891.3:g.4665006_4665008dup, NT_113891.2:g.4665109_4665114del, NT_113891.2:g.4665111_4665114del, NT_113891.2:g.4665112_4665114del, NT_113891.2:g.4665113_4665114del, NT_113891.2:g.4665114del, NT_113891.2:g.4665114dup, NT_113891.2:g.4665113_4665114dup, NT_113891.2:g.4665112_4665114dup, NT_167248.2:g.4447908dup, NT_167248.2:g.4447904_4447908del, NT_167248.2:g.4447906_4447908del, NT_167248.2:g.4447907_4447908del, NT_167248.2:g.4447908del, NT_167248.2:g.4447907_4447908dup, NT_167248.2:g.4447906_4447908dup, NT_167248.2:g.4447905_4447908dup, NT_167245.2:g.4497018_4497023del, NT_167245.2:g.4497020_4497023del, NT_167245.2:g.4497021_4497023del, NT_167245.2:g.4497022_4497023del, NT_167245.2:g.4497023del, NT_167245.2:g.4497023dup, NT_167245.2:g.4497022_4497023dup, NT_167245.2:g.4497021_4497023dup, NT_167245.1:g.4502603_4502608del, NT_167245.1:g.4502605_4502608del, NT_167245.1:g.4502606_4502608del, NT_167245.1:g.4502607_4502608del, NT_167245.1:g.4502608del, NT_167245.1:g.4502608dup, NT_167245.1:g.4502607_4502608dup, NT_167245.1:g.4502606_4502608dup, NT_167249.2:g.4702207_4702212del, NT_167249.2:g.4702209_4702212del, NT_167249.2:g.4702210_4702212del, NT_167249.2:g.4702211_4702212del, NT_167249.2:g.4702212del, NT_167249.2:g.4702212dup, NT_167249.2:g.4702211_4702212dup, NT_167249.2:g.4702210_4702212dup, NT_167249.1:g.4701505_4701510del, NT_167249.1:g.4701507_4701510del, NT_167249.1:g.4701508_4701510del, NT_167249.1:g.4701509_4701510del, NT_167249.1:g.4701510del, NT_167249.1:g.4701510dup, NT_167249.1:g.4701509_4701510dup, NT_167249.1:g.4701508_4701510dup, NT_167246.2:g.4672967_4672972del, NT_167246.2:g.4672969_4672972del, NT_167246.2:g.4672970_4672972del, NT_167246.2:g.4672971_4672972del, NT_167246.2:g.4672972del, NT_167246.2:g.4672972dup, NT_167246.2:g.4672971_4672972dup, NT_167246.2:g.4672970_4672972dup, NT_167246.1:g.4678587_4678592del, NT_167246.1:g.4678589_4678592del, NT_167246.1:g.4678590_4678592del, NT_167246.1:g.4678591_4678592del, NT_167246.1:g.4678592del, NT_167246.1:g.4678592dup, NT_167246.1:g.4678591_4678592dup, NT_167246.1:g.4678590_4678592dup, NT_167247.2:g.4689485_4689490del, NT_167247.2:g.4689487_4689490del, NT_167247.2:g.4689488_4689490del, NT_167247.2:g.4689489_4689490del, NT_167247.2:g.4689490del, NT_167247.2:g.4689490dup, NT_167247.2:g.4689489_4689490dup, NT_167247.2:g.4689488_4689490dup, NT_167247.1:g.4695070_4695075del, NT_167247.1:g.4695072_4695075del, NT_167247.1:g.4695073_4695075del, NT_167247.1:g.4695074_4695075del, NT_167247.1:g.4695075del, NT_167247.1:g.4695075dup, NT_167247.1:g.4695074_4695075dup, NT_167247.1:g.4695073_4695075dup, NT_167248.1:g.4453504dup, NT_167248.1:g.4453500_4453504del, NT_167248.1:g.4453502_4453504del, NT_167248.1:g.4453503_4453504del, NT_167248.1:g.4453504del, NT_167248.1:g.4453503_4453504dup, NT_167248.1:g.4453502_4453504dup, NT_167248.1:g.4453501_4453504dup

Select item 14914536592.

rs1491453659 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:33252588 (GRCh38)
6:33220365 (GRCh37)
Canonical SPDI:: NC_000006.12:33252587:CA:
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00641/76 (ALFA)
-=0.00089/25 (TOMMO)
HGVS:: NC_000006.12:g.33252588_33252589del, NC_000006.11:g.33220365_33220366del, NT_113891.3:g.4664085_4664086del, NT_113891.2:g.4664191_4664192del, NT_167248.2:g.4447007dup, NT_167248.2:g.4446988del, NT_167245.2:g.4496100_4496101del, NT_167245.1:g.4501685_4501686del, NT_167249.2:g.4701310dup, NT_167249.2:g.4701292del, NT_167246.2:g.4672049_4672050del, NT_167246.1:g.4677669_4677670del, NT_167247.2:g.4688588dup, NT_167247.2:g.4688570del, NT_167248.1:g.4452603dup, NT_167248.1:g.4452584del, NT_167249.1:g.4700608dup, NT_167249.1:g.4700590del, NT_167247.1:g.4694173dup, NT_167247.1:g.4694155del

Select item 14914035633.

rs1491403563 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:33270950 (GRCh38)
6:33238727 (GRCh37)
Canonical SPDI:: NC_000006.12:33270949:CA:
Gene:: RPS18 (Varview), VPS52 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00135/16 (ALFA)
-=0.00138/38 (TOMMO)
HGVS:: NC_000006.12:g.33270950_33270951del, NC_000006.11:g.33238727_33238728del, NT_113891.3:g.4682431_4682432del, NT_113891.2:g.4682537_4682538del, NT_167248.2:g.4465391dup, NT_167248.2:g.4465381del, NT_167245.2:g.4514464_4514465del, NT_167245.1:g.4520049_4520050del, NT_167249.2:g.4719655dup, NT_167249.2:g.4719634del, NT_167247.2:g.4706936dup, NT_167247.2:g.4706915del, NT_167248.1:g.4470987dup, NT_167248.1:g.4470977del, NT_167249.1:g.4718953dup, NT_167249.1:g.4718932del, NT_167247.1:g.4712521dup, NT_167247.1:g.4712500del

Select item 14914020434.

rs1491402043 has merged into rs9280379 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:33252597 (GRCh38)
6:33220374 (GRCh37)
Canonical SPDI:: NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33252588:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAA=0.4419/2213 (1000Genomes)
HGVS:: NC_000006.12:g.33252597_33252609del, NC_000006.12:g.33252598_33252609del, NC_000006.12:g.33252599_33252609del, NC_000006.12:g.33252600_33252609del, NC_000006.12:g.33252601_33252609del, NC_000006.12:g.33252604_33252609del, NC_000006.12:g.33252605_33252609del, NC_000006.12:g.33252606_33252609del, NC_000006.12:g.33252607_33252609del, NC_000006.12:g.33252608_33252609del, NC_000006.12:g.33252609del, NC_000006.12:g.33252609dup, NC_000006.12:g.33252608_33252609dup, NC_000006.12:g.33252607_33252609dup, NC_000006.12:g.33252606_33252609dup, NC_000006.12:g.33252604_33252609dup, NC_000006.12:g.33252592_33252609dup, NC_000006.12:g.33252609_33252610insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.33252609_33252610insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.33252609_33252610insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.33252589_33252609A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.33220374_33220386del, NC_000006.11:g.33220375_33220386del, NC_000006.11:g.33220376_33220386del, NC_000006.11:g.33220377_33220386del, NC_000006.11:g.33220378_33220386del, NC_000006.11:g.33220381_33220386del, NC_000006.11:g.33220382_33220386del, NC_000006.11:g.33220383_33220386del, NC_000006.11:g.33220384_33220386del, NC_000006.11:g.33220385_33220386del, NC_000006.11:g.33220386del, NC_000006.11:g.33220386dup, NC_000006.11:g.33220385_33220386dup, NC_000006.11:g.33220384_33220386dup, NC_000006.11:g.33220383_33220386dup, NC_000006.11:g.33220381_33220386dup, NC_000006.11:g.33220369_33220386dup, NC_000006.11:g.33220386_33220387insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.33220386_33220387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.33220386_33220387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.33220366_33220386A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_113891.3:g.4664094_4664106del, NT_113891.3:g.4664095_4664106del, NT_113891.3:g.4664096_4664106del, NT_113891.3:g.4664097_4664106del, NT_113891.3:g.4664098_4664106del, NT_113891.3:g.4664101_4664106del, NT_113891.3:g.4664102_4664106del, NT_113891.3:g.4664103_4664106del, NT_113891.3:g.4664104_4664106del, NT_113891.3:g.4664105_4664106del, NT_113891.3:g.4664106del, NT_113891.3:g.4664106dup, NT_113891.3:g.4664105_4664106dup, NT_113891.3:g.4664104_4664106dup, NT_113891.3:g.4664103_4664106dup, NT_113891.3:g.4664101_4664106dup, NT_113891.3:g.4664089_4664106dup, NT_113891.3:g.4664106_4664107insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4664106_4664107insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4664106_4664107insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4664086_4664106A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_113891.2:g.4664200_4664212del, NT_113891.2:g.4664201_4664212del, NT_113891.2:g.4664202_4664212del, NT_113891.2:g.4664203_4664212del, NT_113891.2:g.4664204_4664212del, NT_113891.2:g.4664207_4664212del, NT_113891.2:g.4664208_4664212del, NT_113891.2:g.4664209_4664212del, NT_113891.2:g.4664210_4664212del, NT_113891.2:g.4664211_4664212del, NT_113891.2:g.4664212del, NT_113891.2:g.4664212dup, NT_113891.2:g.4664211_4664212dup, NT_113891.2:g.4664210_4664212dup, NT_113891.2:g.4664209_4664212dup, NT_113891.2:g.4664207_4664212dup, NT_113891.2:g.4664195_4664212dup, NT_113891.2:g.4664212_4664213insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4664212_4664213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4664212_4664213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4664192_4664212A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167248.2:g.4447006_4447007dup, NT_167248.2:g.4446997_4447007del, NT_167248.2:g.4446998_4447007del, NT_167248.2:g.4446999_4447007del, NT_167248.2:g.4447000_4447007del, NT_167248.2:g.4447001_4447007del, NT_167248.2:g.4447004_4447007del, NT_167248.2:g.4447005_4447007del, NT_167248.2:g.4447006_4447007del, NT_167248.2:g.4447007del, NT_167248.2:g.4447007dup, NT_167248.2:g.4447005_4447007dup, NT_167248.2:g.4447004_4447007dup, NT_167248.2:g.4447003_4447007dup, NT_167248.2:g.4447002_4447007dup, NT_167248.2:g.4447000_4447007dup, NT_167248.2:g.4447007_4447008insAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4447007_4447008insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4447007_4447008insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4447007_4447008insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4446989_4447007A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167245.2:g.4496109_4496121del, NT_167245.2:g.4496110_4496121del, NT_167245.2:g.4496111_4496121del, NT_167245.2:g.4496112_4496121del, NT_167245.2:g.4496113_4496121del, NT_167245.2:g.4496116_4496121del, NT_167245.2:g.4496117_4496121del, NT_167245.2:g.4496118_4496121del, NT_167245.2:g.4496119_4496121del, NT_167245.2:g.4496120_4496121del, NT_167245.2:g.4496121del, NT_167245.2:g.4496121dup, NT_167245.2:g.4496120_4496121dup, NT_167245.2:g.4496119_4496121dup, NT_167245.2:g.4496118_4496121dup, NT_167245.2:g.4496116_4496121dup, NT_167245.2:g.4496104_4496121dup, NT_167245.2:g.4496121_4496122insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4496121_4496122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4496121_4496122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4496101_4496121A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167245.1:g.4501694_4501706del, NT_167245.1:g.4501695_4501706del, NT_167245.1:g.4501696_4501706del, NT_167245.1:g.4501697_4501706del, NT_167245.1:g.4501698_4501706del, NT_167245.1:g.4501701_4501706del, NT_167245.1:g.4501702_4501706del, NT_167245.1:g.4501703_4501706del, NT_167245.1:g.4501704_4501706del, NT_167245.1:g.4501705_4501706del, NT_167245.1:g.4501706del, NT_167245.1:g.4501706dup, NT_167245.1:g.4501705_4501706dup, NT_167245.1:g.4501704_4501706dup, NT_167245.1:g.4501703_4501706dup, NT_167245.1:g.4501701_4501706dup, NT_167245.1:g.4501689_4501706dup, NT_167245.1:g.4501706_4501707insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4501706_4501707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4501706_4501707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4501686_4501706A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167249.2:g.4701308_4701310dup, NT_167249.2:g.4701301_4701310del, NT_167249.2:g.4701302_4701310del, NT_167249.2:g.4701303_4701310del, NT_167249.2:g.4701304_4701310del, NT_167249.2:g.4701305_4701310del, NT_167249.2:g.4701308_4701310del, NT_167249.2:g.4701309_4701310del, NT_167249.2:g.4701310del, NT_167249.2:g.4701310dup, NT_167249.2:g.4701309_4701310dup, NT_167249.2:g.4701307_4701310dup, NT_167249.2:g.4701306_4701310dup, NT_167249.2:g.4701305_4701310dup, NT_167249.2:g.4701304_4701310dup, NT_167249.2:g.4701302_4701310dup, NT_167249.2:g.4701310_4701311insAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4701310_4701311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4701310_4701311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4701310_4701311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4701293_4701310A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167246.2:g.4672058_4672070del, NT_167246.2:g.4672059_4672070del, NT_167246.2:g.4672060_4672070del, NT_167246.2:g.4672061_4672070del, NT_167246.2:g.4672062_4672070del, NT_167246.2:g.4672065_4672070del, NT_167246.2:g.4672066_4672070del, NT_167246.2:g.4672067_4672070del, NT_167246.2:g.4672068_4672070del, NT_167246.2:g.4672069_4672070del, NT_167246.2:g.4672070del, NT_167246.2:g.4672070dup, NT_167246.2:g.4672069_4672070dup, NT_167246.2:g.4672068_4672070dup, NT_167246.2:g.4672067_4672070dup, NT_167246.2:g.4672065_4672070dup, NT_167246.2:g.4672053_4672070dup, NT_167246.2:g.4672070_4672071insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.2:g.4672070_4672071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.2:g.4672070_4672071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.2:g.4672050_4672070A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167246.1:g.4677678_4677690del, NT_167246.1:g.4677679_4677690del, NT_167246.1:g.4677680_4677690del, NT_167246.1:g.4677681_4677690del, NT_167246.1:g.4677682_4677690del, NT_167246.1:g.4677685_4677690del, NT_167246.1:g.4677686_4677690del, NT_167246.1:g.4677687_4677690del, NT_167246.1:g.4677688_4677690del, NT_167246.1:g.4677689_4677690del, NT_167246.1:g.4677690del, NT_167246.1:g.4677690dup, NT_167246.1:g.4677689_4677690dup, NT_167246.1:g.4677688_4677690dup, NT_167246.1:g.4677687_4677690dup, NT_167246.1:g.4677685_4677690dup, NT_167246.1:g.4677673_4677690dup, NT_167246.1:g.4677690_4677691insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.1:g.4677690_4677691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.1:g.4677690_4677691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167246.1:g.4677670_4677690A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167247.2:g.4688586_4688588dup, NT_167247.2:g.4688579_4688588del, NT_167247.2:g.4688580_4688588del, NT_167247.2:g.4688581_4688588del, NT_167247.2:g.4688582_4688588del, NT_167247.2:g.4688583_4688588del, NT_167247.2:g.4688586_4688588del, NT_167247.2:g.4688587_4688588del, NT_167247.2:g.4688588del, NT_167247.2:g.4688588dup, NT_167247.2:g.4688587_4688588dup, NT_167247.2:g.4688585_4688588dup, NT_167247.2:g.4688584_4688588dup, NT_167247.2:g.4688583_4688588dup, NT_167247.2:g.4688582_4688588dup, NT_167247.2:g.4688580_4688588dup, NT_167247.2:g.4688588_4688589insAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4688588_4688589insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4688588_4688589insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4688588_4688589insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4688571_4688588A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167248.1:g.4452602_4452603dup, NT_167248.1:g.4452593_4452603del, NT_167248.1:g.4452594_4452603del, NT_167248.1:g.4452595_4452603del, NT_167248.1:g.4452596_4452603del, NT_167248.1:g.4452597_4452603del, NT_167248.1:g.4452600_4452603del, NT_167248.1:g.4452601_4452603del, NT_167248.1:g.4452602_4452603del, NT_167248.1:g.4452603del, NT_167248.1:g.4452603dup, NT_167248.1:g.4452601_4452603dup, NT_167248.1:g.4452600_4452603dup, NT_167248.1:g.4452599_4452603dup, NT_167248.1:g.4452598_4452603dup, NT_167248.1:g.4452596_4452603dup, NT_167248.1:g.4452603_4452604insAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4452603_4452604insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4452603_4452604insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4452603_4452604insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4452585_4452603A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167249.1:g.4700606_4700608dup, NT_167249.1:g.4700599_4700608del, NT_167249.1:g.4700600_4700608del, NT_167249.1:g.4700601_4700608del, NT_167249.1:g.4700602_4700608del, NT_167249.1:g.4700603_4700608del, NT_167249.1:g.4700606_4700608del, NT_167249.1:g.4700607_4700608del, NT_167249.1:g.4700608del, NT_167249.1:g.4700608dup, NT_167249.1:g.4700607_4700608dup, NT_167249.1:g.4700605_4700608dup, NT_167249.1:g.4700604_4700608dup, NT_167249.1:g.4700603_4700608dup, NT_167249.1:g.4700602_4700608dup, NT_167249.1:g.4700600_4700608dup, NT_167249.1:g.4700608_4700609insAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4700608_4700609insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4700608_4700609insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4700608_4700609insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4700591_4700608A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_167247.1:g.4694171_4694173dup, NT_167247.1:g.4694164_4694173del, NT_167247.1:g.4694165_4694173del, NT_167247.1:g.4694166_4694173del, NT_167247.1:g.4694167_4694173del, NT_167247.1:g.4694168_4694173del, NT_167247.1:g.4694171_4694173del, NT_167247.1:g.4694172_4694173del, NT_167247.1:g.4694173del, NT_167247.1:g.4694173dup, NT_167247.1:g.4694172_4694173dup, NT_167247.1:g.4694170_4694173dup, NT_167247.1:g.4694169_4694173dup, NT_167247.1:g.4694168_4694173dup, NT_167247.1:g.4694167_4694173dup, NT_167247.1:g.4694165_4694173dup, NT_167247.1:g.4694173_4694174insAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4694173_4694174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4694173_4694174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4694173_4694174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4694156_4694173A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913486445.

rs1491348644 has merged into rs750569619 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:33263276 (GRCh38)
6:33231053 (GRCh37)
Canonical SPDI:: NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33263263:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS52 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000006.12:g.33263276_33263284del, NC_000006.12:g.33263279_33263284del, NC_000006.12:g.33263280_33263284del, NC_000006.12:g.33263281_33263284del, NC_000006.12:g.33263282_33263284del, NC_000006.12:g.33263283_33263284del, NC_000006.12:g.33263284del, NC_000006.12:g.33263284dup, NC_000006.12:g.33263283_33263284dup, NC_000006.12:g.33263282_33263284dup, NC_000006.12:g.33263281_33263284dup, NC_000006.12:g.33263280_33263284dup, NC_000006.11:g.33231053_33231061del, NC_000006.11:g.33231056_33231061del, NC_000006.11:g.33231057_33231061del, NC_000006.11:g.33231058_33231061del, NC_000006.11:g.33231059_33231061del, NC_000006.11:g.33231060_33231061del, NC_000006.11:g.33231061del, NC_000006.11:g.33231061dup, NC_000006.11:g.33231060_33231061dup, NC_000006.11:g.33231059_33231061dup, NC_000006.11:g.33231058_33231061dup, NC_000006.11:g.33231057_33231061dup, NT_113891.3:g.4674755_4674763del, NT_113891.3:g.4674758_4674763del, NT_113891.3:g.4674759_4674763del, NT_113891.3:g.4674760_4674763del, NT_113891.3:g.4674761_4674763del, NT_113891.3:g.4674762_4674763del, NT_113891.3:g.4674763del, NT_113891.3:g.4674763dup, NT_113891.3:g.4674762_4674763dup, NT_113891.3:g.4674761_4674763dup, NT_113891.3:g.4674760_4674763dup, NT_113891.3:g.4674759_4674763dup, NT_113891.2:g.4674861_4674869del, NT_113891.2:g.4674864_4674869del, NT_113891.2:g.4674865_4674869del, NT_113891.2:g.4674866_4674869del, NT_113891.2:g.4674867_4674869del, NT_113891.2:g.4674868_4674869del, NT_113891.2:g.4674869del, NT_113891.2:g.4674869dup, NT_113891.2:g.4674868_4674869dup, NT_113891.2:g.4674867_4674869dup, NT_113891.2:g.4674866_4674869dup, NT_113891.2:g.4674865_4674869dup, NT_167245.2:g.4506790_4506798del, NT_167245.2:g.4506793_4506798del, NT_167245.2:g.4506794_4506798del, NT_167245.2:g.4506795_4506798del, NT_167245.2:g.4506796_4506798del, NT_167245.2:g.4506797_4506798del, NT_167245.2:g.4506798del, NT_167245.2:g.4506798dup, NT_167245.2:g.4506797_4506798dup, NT_167245.2:g.4506796_4506798dup, NT_167245.2:g.4506795_4506798dup, NT_167245.2:g.4506794_4506798dup, NT_167245.1:g.4512375_4512383del, NT_167245.1:g.4512378_4512383del, NT_167245.1:g.4512379_4512383del, NT_167245.1:g.4512380_4512383del, NT_167245.1:g.4512381_4512383del, NT_167245.1:g.4512382_4512383del, NT_167245.1:g.4512383del, NT_167245.1:g.4512383dup, NT_167245.1:g.4512382_4512383dup, NT_167245.1:g.4512381_4512383dup, NT_167245.1:g.4512380_4512383dup, NT_167245.1:g.4512379_4512383dup, NT_167249.2:g.4711945_4711953del, NT_167249.2:g.4711948_4711953del, NT_167249.2:g.4711949_4711953del, NT_167249.2:g.4711950_4711953del, NT_167249.2:g.4711951_4711953del, NT_167249.2:g.4711952_4711953del, NT_167249.2:g.4711953del, NT_167249.2:g.4711953dup, NT_167249.2:g.4711952_4711953dup, NT_167249.2:g.4711951_4711953dup, NT_167249.2:g.4711950_4711953dup, NT_167249.2:g.4711949_4711953dup, NT_167249.1:g.4711243_4711251del, NT_167249.1:g.4711246_4711251del, NT_167249.1:g.4711247_4711251del, NT_167249.1:g.4711248_4711251del, NT_167249.1:g.4711249_4711251del, NT_167249.1:g.4711250_4711251del, NT_167249.1:g.4711251del, NT_167249.1:g.4711251dup, NT_167249.1:g.4711250_4711251dup, NT_167249.1:g.4711249_4711251dup, NT_167249.1:g.4711248_4711251dup, NT_167249.1:g.4711247_4711251dup, NT_167247.2:g.4699223_4699231del, NT_167247.2:g.4699226_4699231del, NT_167247.2:g.4699227_4699231del, NT_167247.2:g.4699228_4699231del, NT_167247.2:g.4699229_4699231del, NT_167247.2:g.4699230_4699231del, NT_167247.2:g.4699231del, NT_167247.2:g.4699231dup, NT_167247.2:g.4699230_4699231dup, NT_167247.2:g.4699229_4699231dup, NT_167247.2:g.4699228_4699231dup, NT_167247.2:g.4699227_4699231dup, NT_167247.1:g.4704808_4704816del, NT_167247.1:g.4704811_4704816del, NT_167247.1:g.4704812_4704816del, NT_167247.1:g.4704813_4704816del, NT_167247.1:g.4704814_4704816del, NT_167247.1:g.4704815_4704816del, NT_167247.1:g.4704816del, NT_167247.1:g.4704816dup, NT_167247.1:g.4704815_4704816dup, NT_167247.1:g.4704814_4704816dup, NT_167247.1:g.4704813_4704816dup, NT_167247.1:g.4704812_4704816dup

Select item 14913303826.

rs1491330382 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 6:33260627 (GRCh38)
6:33228404 (GRCh37)
Canonical SPDI:: NC_000006.12:33260623:TTTTTTT:TTT,NC_000006.12:33260623:TTTTTTT:TTTTTT,NC_000006.12:33260623:TTTTTTT:TTTTTTTT
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33260627_33260630del, NC_000006.12:g.33260630del, NC_000006.12:g.33260630dup, NC_000006.11:g.33228404_33228407del, NC_000006.11:g.33228407del, NC_000006.11:g.33228407dup, NT_113891.3:g.4672106_4672109del, NT_113891.3:g.4672109del, NT_113891.3:g.4672109dup, NT_113891.2:g.4672212_4672215del, NT_113891.2:g.4672215del, NT_113891.2:g.4672215dup, NT_167248.2:g.4455029_4455032del, NT_167248.2:g.4455032del, NT_167248.2:g.4455032dup, NT_167248.1:g.4460625_4460628del, NT_167248.1:g.4460628del, NT_167248.1:g.4460628dup, NT_167245.2:g.4504140_4504143del, NT_167245.2:g.4504143del, NT_167245.2:g.4504143dup, NT_167245.1:g.4509725_4509728del, NT_167245.1:g.4509728del, NT_167245.1:g.4509728dup, NT_167249.2:g.4709294_4709297del, NT_167249.2:g.4709297del, NT_167249.2:g.4709297dup, NT_167249.1:g.4708592_4708595del, NT_167249.1:g.4708595del, NT_167249.1:g.4708595dup, NT_167247.2:g.4696572_4696575del, NT_167247.2:g.4696575del, NT_167247.2:g.4696575dup, NT_167247.1:g.4702157_4702160del, NT_167247.1:g.4702160del, NT_167247.1:g.4702160dup

Select item 14912527557.

rs1491252755 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:33260447 (GRCh38)
6:33228224 (GRCh37)
Canonical SPDI:: NC_000006.12:33260445:TGT:T
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33260447_33260448del, NC_000006.11:g.33228224_33228225del, NT_113891.3:g.4671926_4671927del, NT_113891.2:g.4672032_4672033del, NT_167248.2:g.4454849_4454850del, NT_167248.1:g.4460445_4460446del, NT_167245.2:g.4503960_4503961del, NT_167245.1:g.4509545_4509546del, NT_167249.2:g.4709114_4709115del, NT_167249.1:g.4708412_4708413del, NT_167247.2:g.4696392_4696393del, NT_167247.1:g.4701977_4701978del

Select item 14912370448.

rs1491237044 has merged into rs9280391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:33270960 (GRCh38)
6:33238737 (GRCh37)
Canonical SPDI:: NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33270950:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPS18 (Varview), VPS52 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.1172/117 (GoNL)
AAAAAAAAAAAAAA=0.2146/827 (ALSPAC)
AAAAAAAAAAAAAA=0.3059/1532 (1000Genomes)
HGVS:: NC_000006.12:g.33270960_33270974del, NC_000006.12:g.33270961_33270974del, NC_000006.12:g.33270962_33270974del, NC_000006.12:g.33270963_33270974del, NC_000006.12:g.33270966_33270974del, NC_000006.12:g.33270968_33270974del, NC_000006.12:g.33270969_33270974del, NC_000006.12:g.33270970_33270974del, NC_000006.12:g.33270971_33270974del, NC_000006.12:g.33270972_33270974del, NC_000006.12:g.33270973_33270974del, NC_000006.12:g.33270974del, NC_000006.12:g.33270974dup, NC_000006.12:g.33270973_33270974dup, NC_000006.12:g.33270972_33270974dup, NC_000006.12:g.33270971_33270974dup, NC_000006.12:g.33270970_33270974dup, NC_000006.12:g.33270969_33270974dup, NC_000006.12:g.33270968_33270974dup, NC_000006.12:g.33270963_33270974dup, NC_000006.12:g.33270974_33270975insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.33270974_33270975insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.33238737_33238751del, NC_000006.11:g.33238738_33238751del, NC_000006.11:g.33238739_33238751del, NC_000006.11:g.33238740_33238751del, NC_000006.11:g.33238743_33238751del, NC_000006.11:g.33238745_33238751del, NC_000006.11:g.33238746_33238751del, NC_000006.11:g.33238747_33238751del, NC_000006.11:g.33238748_33238751del, NC_000006.11:g.33238749_33238751del, NC_000006.11:g.33238750_33238751del, NC_000006.11:g.33238751del, NC_000006.11:g.33238751dup, NC_000006.11:g.33238750_33238751dup, NC_000006.11:g.33238749_33238751dup, NC_000006.11:g.33238748_33238751dup, NC_000006.11:g.33238747_33238751dup, NC_000006.11:g.33238746_33238751dup, NC_000006.11:g.33238745_33238751dup, NC_000006.11:g.33238740_33238751dup, NC_000006.11:g.33238751_33238752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.33238751_33238752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4682441_4682455del, NT_113891.3:g.4682442_4682455del, NT_113891.3:g.4682443_4682455del, NT_113891.3:g.4682444_4682455del, NT_113891.3:g.4682447_4682455del, NT_113891.3:g.4682449_4682455del, NT_113891.3:g.4682450_4682455del, NT_113891.3:g.4682451_4682455del, NT_113891.3:g.4682452_4682455del, NT_113891.3:g.4682453_4682455del, NT_113891.3:g.4682454_4682455del, NT_113891.3:g.4682455del, NT_113891.3:g.4682455dup, NT_113891.3:g.4682454_4682455dup, NT_113891.3:g.4682453_4682455dup, NT_113891.3:g.4682452_4682455dup, NT_113891.3:g.4682451_4682455dup, NT_113891.3:g.4682450_4682455dup, NT_113891.3:g.4682449_4682455dup, NT_113891.3:g.4682444_4682455dup, NT_113891.3:g.4682455_4682456insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4682455_4682456insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4682547_4682561del, NT_113891.2:g.4682548_4682561del, NT_113891.2:g.4682549_4682561del, NT_113891.2:g.4682550_4682561del, NT_113891.2:g.4682553_4682561del, NT_113891.2:g.4682555_4682561del, NT_113891.2:g.4682556_4682561del, NT_113891.2:g.4682557_4682561del, NT_113891.2:g.4682558_4682561del, NT_113891.2:g.4682559_4682561del, NT_113891.2:g.4682560_4682561del, NT_113891.2:g.4682561del, NT_113891.2:g.4682561dup, NT_113891.2:g.4682560_4682561dup, NT_113891.2:g.4682559_4682561dup, NT_113891.2:g.4682558_4682561dup, NT_113891.2:g.4682557_4682561dup, NT_113891.2:g.4682556_4682561dup, NT_113891.2:g.4682555_4682561dup, NT_113891.2:g.4682550_4682561dup, NT_113891.2:g.4682561_4682562insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4682561_4682562insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAA, NT_167248.2:g.4465391del, NT_167248.2:g.4465391dup, NT_167248.2:g.4465390_4465391dup, NT_167248.2:g.4465387_4465391dup, NT_167248.2:g.4465385_4465391dup, NT_167248.2:g.4465384_4465391dup, NT_167248.2:g.4465383_4465391dup, NT_167248.2:g.4465382_4465391dup, NT_167248.2:g.4465391_4465392insAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4465391_4465392insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4514474_4514488del, NT_167245.2:g.4514475_4514488del, NT_167245.2:g.4514476_4514488del, NT_167245.2:g.4514477_4514488del, NT_167245.2:g.4514480_4514488del, NT_167245.2:g.4514482_4514488del, NT_167245.2:g.4514483_4514488del, NT_167245.2:g.4514484_4514488del, NT_167245.2:g.4514485_4514488del, NT_167245.2:g.4514486_4514488del, NT_167245.2:g.4514487_4514488del, NT_167245.2:g.4514488del, NT_167245.2:g.4514488dup, NT_167245.2:g.4514487_4514488dup, NT_167245.2:g.4514486_4514488dup, NT_167245.2:g.4514485_4514488dup, NT_167245.2:g.4514484_4514488dup, NT_167245.2:g.4514483_4514488dup, NT_167245.2:g.4514482_4514488dup, NT_167245.2:g.4514477_4514488dup, NT_167245.2:g.4514488_4514489insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4514488_4514489insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4520059_4520073del, NT_167245.1:g.4520060_4520073del, NT_167245.1:g.4520061_4520073del, NT_167245.1:g.4520062_4520073del, NT_167245.1:g.4520065_4520073del, NT_167245.1:g.4520067_4520073del, NT_167245.1:g.4520068_4520073del, NT_167245.1:g.4520069_4520073del, NT_167245.1:g.4520070_4520073del, NT_167245.1:g.4520071_4520073del, NT_167245.1:g.4520072_4520073del, NT_167245.1:g.4520073del, NT_167245.1:g.4520073dup, NT_167245.1:g.4520072_4520073dup, NT_167245.1:g.4520071_4520073dup, NT_167245.1:g.4520070_4520073dup, NT_167245.1:g.4520069_4520073dup, NT_167245.1:g.4520068_4520073dup, NT_167245.1:g.4520067_4520073dup, NT_167245.1:g.4520062_4520073dup, NT_167245.1:g.4520073_4520074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4520073_4520074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4719653_4719655dup, NT_167249.2:g.4719644_4719655del, NT_167249.2:g.4719645_4719655del, NT_167249.2:g.4719646_4719655del, NT_167249.2:g.4719647_4719655del, NT_167249.2:g.4719650_4719655del, NT_167249.2:g.4719652_4719655del, NT_167249.2:g.4719653_4719655del, NT_167249.2:g.4719654_4719655del, NT_167249.2:g.4719655del, NT_167249.2:g.4719655dup, NT_167249.2:g.4719654_4719655dup, NT_167249.2:g.4719652_4719655dup, NT_167249.2:g.4719651_4719655dup, NT_167249.2:g.4719650_4719655dup, NT_167249.2:g.4719649_4719655dup, NT_167249.2:g.4719648_4719655dup, NT_167249.2:g.4719647_4719655dup, NT_167249.2:g.4719646_4719655dup, NT_167249.2:g.4719641_4719655dup, NT_167249.2:g.4719655_4719656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.2:g.4719655_4719656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4706934_4706936dup, NT_167247.2:g.4706925_4706936del, NT_167247.2:g.4706926_4706936del, NT_167247.2:g.4706927_4706936del, NT_167247.2:g.4706928_4706936del, NT_167247.2:g.4706931_4706936del, NT_167247.2:g.4706933_4706936del, NT_167247.2:g.4706934_4706936del, NT_167247.2:g.4706935_4706936del, NT_167247.2:g.4706936del, NT_167247.2:g.4706936dup, NT_167247.2:g.4706935_4706936dup, NT_167247.2:g.4706933_4706936dup, NT_167247.2:g.4706932_4706936dup, NT_167247.2:g.4706931_4706936dup, NT_167247.2:g.4706930_4706936dup, NT_167247.2:g.4706929_4706936dup, NT_167247.2:g.4706928_4706936dup, NT_167247.2:g.4706927_4706936dup, NT_167247.2:g.4706922_4706936dup, NT_167247.2:g.4706936_4706937insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4706936_4706937insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAA, NT_167248.1:g.4470987del, NT_167248.1:g.4470987dup, NT_167248.1:g.4470986_4470987dup, NT_167248.1:g.4470983_4470987dup, NT_167248.1:g.4470981_4470987dup, NT_167248.1:g.4470980_4470987dup, NT_167248.1:g.4470979_4470987dup, NT_167248.1:g.4470978_4470987dup, NT_167248.1:g.4470987_4470988insAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.1:g.4470987_4470988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4718951_4718953dup, NT_167249.1:g.4718942_4718953del, NT_167249.1:g.4718943_4718953del, NT_167249.1:g.4718944_4718953del, NT_167249.1:g.4718945_4718953del, NT_167249.1:g.4718948_4718953del, NT_167249.1:g.4718950_4718953del, NT_167249.1:g.4718951_4718953del, NT_167249.1:g.4718952_4718953del, NT_167249.1:g.4718953del, NT_167249.1:g.4718953dup, NT_167249.1:g.4718952_4718953dup, NT_167249.1:g.4718950_4718953dup, NT_167249.1:g.4718949_4718953dup, NT_167249.1:g.4718948_4718953dup, NT_167249.1:g.4718947_4718953dup, NT_167249.1:g.4718946_4718953dup, NT_167249.1:g.4718945_4718953dup, NT_167249.1:g.4718944_4718953dup, NT_167249.1:g.4718939_4718953dup, NT_167249.1:g.4718953_4718954insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167249.1:g.4718953_4718954insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4712519_4712521dup, NT_167247.1:g.4712510_4712521del, NT_167247.1:g.4712511_4712521del, NT_167247.1:g.4712512_4712521del, NT_167247.1:g.4712513_4712521del, NT_167247.1:g.4712516_4712521del, NT_167247.1:g.4712518_4712521del, NT_167247.1:g.4712519_4712521del, NT_167247.1:g.4712520_4712521del, NT_167247.1:g.4712521del, NT_167247.1:g.4712521dup, NT_167247.1:g.4712520_4712521dup, NT_167247.1:g.4712518_4712521dup, NT_167247.1:g.4712517_4712521dup, NT_167247.1:g.4712516_4712521dup, NT_167247.1:g.4712515_4712521dup, NT_167247.1:g.4712514_4712521dup, NT_167247.1:g.4712513_4712521dup, NT_167247.1:g.4712512_4712521dup, NT_167247.1:g.4712507_4712521dup, NT_167247.1:g.4712521_4712522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4712521_4712522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911983679.

rs1491198367 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:33273899 (GRCh38)
6:33241676 (GRCh37)
Canonical SPDI:: NC_000006.12:33273898:AA:
Gene:: RPS18 (Varview), VPS52 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (ALSPAC)
-=0.0008/3 (TWINSUK)
HGVS:: NC_000006.12:g.33273899_33273900del, NC_000006.11:g.33241676_33241677del, NT_113891.3:g.4685380_4685381del, NT_113891.2:g.4685486_4685487del, NT_167248.2:g.4468320_4468321del, NT_167248.1:g.4473916_4473917del, NT_167245.2:g.4517413_4517414del, NT_167245.1:g.4522998_4522999del, NT_167249.2:g.4722584_4722585del, NT_167249.1:g.4721882_4721883del, NT_167247.2:g.4709865_4709866del, NT_167247.1:g.4715450_4715451del

Select item 149117169110.

rs1491171691 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:33260623 (GRCh38)
6:33228400 (GRCh37)
Canonical SPDI:: NC_000006.12:33260622:CT:
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33260623_33260624del, NC_000006.11:g.33228400_33228401del, NT_113891.3:g.4672102_4672103del, NT_113891.2:g.4672208_4672209del, NT_167248.2:g.4455025_4455026del, NT_167248.1:g.4460621_4460622del, NT_167245.2:g.4504136_4504137del, NT_167245.1:g.4509721_4509722del, NT_167249.2:g.4709290_4709291del, NT_167249.1:g.4708588_4708589del, NT_167247.2:g.4696568_4696569del, NT_167247.1:g.4702153_4702154del

Select item 149114819311.

rs1491148193 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:33263264 (GRCh38)
6:33231042 (GRCh37)
Canonical SPDI:: NC_000006.12:33263264::G
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000006.12:g.33263264_33263265insG, NC_000006.11:g.33231041_33231042insG, NT_113891.3:g.4674743_4674744insG, NT_113891.2:g.4674849_4674850insG, NT_167248.2:g.4457667_4457668insG, NT_167248.1:g.4463263_4463264insG, NT_167245.2:g.4506778_4506779insG, NT_167245.1:g.4512363_4512364insG, NT_167249.2:g.4711933_4711934insG, NT_167249.1:g.4711231_4711232insG, NT_167247.2:g.4699211_4699212insG, NT_167247.1:g.4704796_4704797insG

Select item 149098091612.

rs1490980916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:33265632 (GRCh38)
6:33233409 (GRCh37)
Canonical SPDI:: NC_000006.12:33265631:A:G,NC_000006.12:33265631:A:T
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.33265632A>G, NC_000006.12:g.33265632A>T, NC_000006.11:g.33233409A>G, NC_000006.11:g.33233409A>T, NT_113891.3:g.4677113A>G, NT_113891.3:g.4677113A>T, NT_113891.2:g.4677219A>G, NT_113891.2:g.4677219A>T, NT_167248.2:g.4460062A>G, NT_167248.2:g.4460062A>T, NT_167248.1:g.4465658A>G, NT_167248.1:g.4465658A>T, NT_167245.2:g.4509146A>G, NT_167245.2:g.4509146A>T, NT_167245.1:g.4514731A>G, NT_167245.1:g.4514731A>T, NT_167249.2:g.4714319A>G, NT_167249.2:g.4714319A>T, NT_167249.1:g.4713617A>G, NT_167249.1:g.4713617A>T, NT_167247.2:g.4701599A>G, NT_167247.2:g.4701599A>T, NT_167247.1:g.4707184A>G, NT_167247.1:g.4707184A>T

Select item 149072409013.

rs1490724090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33255851 (GRCh38)
6:33223628 (GRCh37)
Canonical SPDI:: NC_000006.12:33255850:C:T
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33255851C>T, NC_000006.11:g.33223628C>T, NT_113891.3:g.4667348C>T, NT_113891.2:g.4667454C>T, NT_167248.2:g.4450247C>T, NT_167248.1:g.4455843C>T, NT_167245.2:g.4499363C>T, NT_167245.1:g.4504948C>T, NT_167249.2:g.4704543C>T, NT_167249.1:g.4703841C>T, NT_167246.2:g.4675312C>T, NT_167246.1:g.4680932C>T, NT_167247.2:g.4691821C>T, NT_167247.1:g.4697406C>T

Select item 149069639814.

rs1490696398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33256825 (GRCh38)
6:33224602 (GRCh37)
Canonical SPDI:: NC_000006.12:33256824:G:A
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000006.12:g.33256825G>A, NC_000006.11:g.33224602G>A, NT_113891.3:g.4668304G>A, NT_113891.2:g.4668410G>A, NT_167248.2:g.4451227G>A, NT_167248.1:g.4456823G>A, NT_167245.2:g.4500338G>A, NT_167245.1:g.4505923G>A, NT_167249.2:g.4705491G>A, NT_167249.1:g.4704789G>A, NT_167246.2:g.4676268G>A, NT_167246.1:g.4681888G>A, NT_167247.2:g.4692769G>A, NT_167247.1:g.4698354G>A

Select item 149066521515.

rs1490665215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:33258502 (GRCh38)
6:33226279 (GRCh37)
Canonical SPDI:: NC_000006.12:33258501:T:A
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00018/5 (TOMMO)
HGVS:: NC_000006.12:g.33258502T>A, NC_000006.11:g.33226279T>A, NT_113891.3:g.4669981T>A, NT_113891.2:g.4670087T>A, NT_167248.2:g.4452904T>A, NT_167248.1:g.4458500T>A, NT_167245.2:g.4502015T>A, NT_167245.1:g.4507600T>A, NT_167249.2:g.4707168T>A, NT_167249.1:g.4706466T>A, NT_167247.2:g.4694446T>A, NT_167247.1:g.4700031T>A

Select item 149056637016.

rs1490566370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33271516 (GRCh38)
6:33239293 (GRCh37)
Canonical SPDI:: NC_000006.12:33271515:A:C
Gene:: RPS18 (Varview), VPS52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.33271516A>C, NC_000006.11:g.33239293A>C, NT_113891.3:g.4682997A>C, NT_113891.2:g.4683103A>C, NT_167248.2:g.4465933A>C, NT_167248.1:g.4471529A>C, NT_167245.2:g.4515030A>C, NT_167245.1:g.4520615A>C, NT_167249.2:g.4720197A>C, NT_167249.1:g.4719495A>C, NT_167247.2:g.4707478A>C, NT_167247.1:g.4713063A>C, NM_001289174.2:c.-438T>G, NM_001289174.1:c.-438T>G

Select item 149050414417.

rs1490504144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33263372 (GRCh38)
6:33231149 (GRCh37)
Canonical SPDI:: NC_000006.12:33263371:T:C
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000006.12:g.33263372T>C, NC_000006.11:g.33231149T>C, NT_113891.3:g.4674851T>C, NT_113891.2:g.4674957T>C, NT_167248.2:g.4457776T>C, NT_167248.1:g.4463372T>C, NT_167245.2:g.4506886T>C, NT_167245.1:g.4512471T>C, NT_167249.2:g.4712041T>C, NT_167249.1:g.4711339T>C, NT_167247.2:g.4699319T>C, NT_167247.1:g.4704904T>C

Select item 149031418718.

rs1490314187 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACAGT>- [Show Flanks]
Chromosome:: 6:33263343 (GRCh38)
6:33231120 (GRCh37)
Canonical SPDI:: NC_000006.12:33263339:AGTTACAGT:AGT
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGT=0.000224/1 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33263343_33263348del, NC_000006.11:g.33231120_33231125del, NT_113891.3:g.4674822_4674827del, NT_113891.2:g.4674928_4674933del, NT_167248.2:g.4457747_4457752del, NT_167248.1:g.4463343_4463348del, NT_167245.2:g.4506857_4506862del, NT_167245.1:g.4512442_4512447del, NT_167249.2:g.4712012_4712017del, NT_167249.1:g.4711310_4711315del, NT_167247.2:g.4699290_4699295del, NT_167247.1:g.4704875_4704880del

Select item 149016257819.

rs1490162578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33257864 (GRCh38)
6:33225641 (GRCh37)
Canonical SPDI:: NC_000006.12:33257863:A:C
Gene:: VPS52 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33257864A>C, NC_000006.11:g.33225641A>C, NT_113891.3:g.4669343A>C, NT_113891.2:g.4669449A>C, NT_167248.2:g.4452266A>C, NT_167248.1:g.4457862A>C, NT_167245.2:g.4501377A>C, NT_167245.1:g.4506962A>C, NT_167249.2:g.4706530A>C, NT_167249.1:g.4705828A>C, NT_167246.2:g.4677307A>C, NT_167246.1:g.4682927A>C, NT_167247.2:g.4693808A>C, NT_167247.1:g.4699393A>C

Select item 148988363420.

rs1489883634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33271888 (GRCh38)
6:33239665 (GRCh37)
Canonical SPDI:: NC_000006.12:33271887:C:T
Gene:: RPS18 (Varview), VPS52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33271888C>T, NC_000006.11:g.33239665C>T, NT_113891.3:g.4683369C>T, NT_113891.2:g.4683475C>T, NT_167248.2:g.4466305C>T, NT_167248.1:g.4471901C>T, NT_167245.2:g.4515402C>T, NT_167245.1:g.4520987C>T, NT_167249.2:g.4720569C>T, NT_167249.1:g.4719867C>T, NT_167247.2:g.4707850C>T, NT_167247.1:g.4713435C>T, NM_022553.5:c.-213G>A, NM_001289174.1:c.-810G>A, NM_080564.1:c.-213G>A

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