SNP Links for Gene (Select 414765) - 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 14914020433.

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 14909828344.

rs1490982834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33248801 (GRCh38)
6:33216578 (GRCh37)
Canonical SPDI:: NC_000006.12:33248800:G:A
Gene:: HCG25 (Varview), LOC105375022 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33248801G>A, NC_000006.11:g.33216578G>A, NT_113891.3:g.4660298G>A, NT_113891.2:g.4660404G>A, NT_167248.2:g.4443201G>A, NT_167248.1:g.4448797G>A, NT_167245.2:g.4492313G>A, NT_167245.1:g.4497898G>A, NT_167249.2:g.4697505G>A, NT_167249.1:g.4696803G>A, NT_167246.2:g.4668262G>A, NT_167246.1:g.4673882G>A, NT_167247.2:g.4684783G>A, NT_167247.1:g.4690368G>A

Select item 14895370985.

rs1489537098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33247581 (GRCh38)
6:33215358 (GRCh37)
Canonical SPDI:: NC_000006.12:33247580:T:C
Gene:: HCG25 (Varview), LOC105375022 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33247581T>C, NC_000006.11:g.33215358T>C, NT_113891.3:g.4659078T>C, NT_113891.2:g.4659184T>C, NT_167248.2:g.4441981T>C, NT_167248.1:g.4447577T>C, NT_167245.2:g.4491093T>C, NT_167245.1:g.4496678T>C, NT_167249.2:g.4696285T>C, NT_167249.1:g.4695583T>C, NT_167246.2:g.4667042T>C, NT_167246.1:g.4672662T>C, NT_167247.2:g.4683563T>C, NT_167247.1:g.4689148T>C

Select item 14889148026.

rs1488914802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33254218 (GRCh38)
6:33221995 (GRCh37)
Canonical SPDI:: NC_000006.12:33254217:G:A
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33254218G>A, NC_000006.11:g.33221995G>A, NT_113891.3:g.4665715G>A, NT_113891.2:g.4665821G>A, NT_167248.2:g.4448615G>A, NT_167248.1:g.4454211G>A, NT_167245.2:g.4497730G>A, NT_167245.1:g.4503315G>A, NT_167249.2:g.4702919G>A, NT_167249.1:g.4702217G>A, NT_167246.2:g.4673679G>A, NT_167246.1:g.4679299G>A, NT_167247.2:g.4690197G>A, NT_167247.1:g.4695782G>A

Select item 14888225847.

rs1488822584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33247725 (GRCh38)
6:33215502 (GRCh37)
Canonical SPDI:: NC_000006.12:33247724:C:G
Gene:: HCG25 (Varview), LOC105375022 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.33247725C>G, NC_000006.11:g.33215502C>G, NT_113891.3:g.4659222C>G, NT_113891.2:g.4659328C>G, NT_167248.2:g.4442125C>G, NT_167248.1:g.4447721C>G, NT_167245.2:g.4491237C>G, NT_167245.1:g.4496822C>G, NT_167249.2:g.4696429C>G, NT_167249.1:g.4695727C>G, NT_167246.2:g.4667186C>G, NT_167246.1:g.4672806C>G, NT_167247.2:g.4683707C>G, NT_167247.1:g.4689292C>G

Select item 14886513498.

rs1488651349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33249290 (GRCh38)
6:33217067 (GRCh37)
Canonical SPDI:: NC_000006.12:33249289:T:C
Gene:: HCG25 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33249290T>C, NC_000006.11:g.33217067T>C, NT_113891.3:g.4660787T>C, NT_113891.2:g.4660893T>C, NT_167248.2:g.4443690T>C, NT_167248.1:g.4449286T>C, NT_167245.2:g.4492802T>C, NT_167245.1:g.4498387T>C, NT_167249.2:g.4697994T>C, NT_167249.1:g.4697292T>C, NT_167246.2:g.4668751T>C, NT_167246.1:g.4674371T>C, NT_167247.2:g.4685272T>C, NT_167247.1:g.4690857T>C

Select item 14880643109.

rs1488064310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33251655 (GRCh38)
6:33219432 (GRCh37)
Canonical SPDI:: NC_000006.12:33251654:A:G
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.33251655A>G, NC_000006.11:g.33219432A>G, NT_113891.3:g.4663152A>G, NT_113891.2:g.4663258A>G, NT_167248.2:g.4446055A>G, NT_167248.1:g.4451651A>G, NT_167245.2:g.4495167A>G, NT_167245.1:g.4500752A>G, NT_167249.2:g.4700359A>G, NT_167249.1:g.4699657A>G, NT_167246.2:g.4671116A>G, NT_167246.1:g.4676736A>G, NT_167247.2:g.4687637A>G, NT_167247.1:g.4693222A>G, NR_044997.1:n.459A>G

Select item 148758765910.

rs1487587659 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:33247702 (GRCh38)
6:33215480 (GRCh37)
Canonical SPDI:: NC_000006.12:33247702:A:AA
Gene:: HCG25 (Varview), LOC105375022 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33247703dup, NC_000006.11:g.33215480dup, NT_113891.3:g.4659200dup, NT_113891.2:g.4659306dup, NT_167248.2:g.4442103dup, NT_167248.1:g.4447699dup, NT_167245.2:g.4491215dup, NT_167245.1:g.4496800dup, NT_167249.2:g.4696407dup, NT_167249.1:g.4695705dup, NT_167246.2:g.4667164dup, NT_167246.1:g.4672784dup, NT_167247.2:g.4683685dup, NT_167247.1:g.4689270dup

Select item 148718770311.

rs1487187703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33249036 (GRCh38)
6:33216813 (GRCh37)
Canonical SPDI:: NC_000006.12:33249035:C:T
Gene:: HCG25 (Varview), LOC105375022 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33249036C>T, NC_000006.11:g.33216813C>T, NT_113891.3:g.4660533C>T, NT_113891.2:g.4660639C>T, NT_167248.2:g.4443436C>T, NT_167248.1:g.4449032C>T, NT_167245.2:g.4492548C>T, NT_167245.1:g.4498133C>T, NT_167249.2:g.4697740C>T, NT_167249.1:g.4697038C>T, NT_167246.2:g.4668497C>T, NT_167246.1:g.4674117C>T, NT_167247.2:g.4685018C>T, NT_167247.1:g.4690603C>T

Select item 148674075412.

rs1486740754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33253404 (GRCh38)
6:33221181 (GRCh37)
Canonical SPDI:: NC_000006.12:33253403:T:G
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33253404T>G, NC_000006.11:g.33221181T>G, NT_113891.3:g.4664901T>G, NT_113891.2:g.4665007T>G, NT_167248.2:g.4447802T>G, NT_167248.1:g.4453398T>G, NT_167245.2:g.4496916T>G, NT_167245.1:g.4502501T>G, NT_167249.2:g.4702105T>G, NT_167249.1:g.4701403T>G, NT_167246.2:g.4672865T>G, NT_167246.1:g.4678485T>G, NT_167247.2:g.4689383T>G, NT_167247.1:g.4694968T>G

Select item 148628764913.

rs1486287649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33251950 (GRCh38)
6:33219727 (GRCh37)
Canonical SPDI:: NC_000006.12:33251949:A:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33251950A>T, NC_000006.11:g.33219727A>T, NT_113891.3:g.4663447A>T, NT_113891.2:g.4663553A>T, NT_167248.2:g.4446350A>T, NT_167248.1:g.4451946A>T, NT_167245.2:g.4495462A>T, NT_167245.1:g.4501047A>T, NT_167249.2:g.4700654A>T, NT_167249.1:g.4699952A>T, NT_167246.2:g.4671411A>T, NT_167246.1:g.4677031A>T, NT_167247.2:g.4687932A>T, NT_167247.1:g.4693517A>T, NM_022553.6:c.1816T>A, NM_022553.5:c.1816T>A, NM_022553.4:c.1816T>A, XM_011514798.3:c.1615T>A, XM_011514798.2:c.1615T>A, XM_011514798.1:c.1615T>A, NM_001289174.2:c.1615T>A, NM_001289174.1:c.1615T>A, XM_011514799.2:c.1615T>A, XM_011514799.1:c.1615T>A, NM_080564.1:c.1816T>A, NM_001289175.1:c.1441T>A, NM_001289176.1:c.1249T>A, XM_011514797.2:c.1615T>A, XM_011514797.1:c.1615T>A, NP_072047.4:p.Ser606Thr, XP_011513100.1:p.Ser539Thr, NP_001276103.1:p.Ser539Thr, XP_011513101.1:p.Ser539Thr, NP_001276104.1:p.Ser481Thr, NP_001276105.1:p.Ser417Thr, XP_011513099.1:p.Ser539Thr

Select item 148606959614.

rs1486069596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33251539 (GRCh38)
6:33219316 (GRCh37)
Canonical SPDI:: NC_000006.12:33251538:T:C
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33251539T>C, NC_000006.11:g.33219316T>C, NT_113891.3:g.4663036T>C, NT_113891.2:g.4663142T>C, NT_167248.2:g.4445939T>C, NT_167248.1:g.4451535T>C, NT_167245.2:g.4495051T>C, NT_167245.1:g.4500636T>C, NT_167249.2:g.4700243T>C, NT_167249.1:g.4699541T>C, NT_167246.2:g.4671000T>C, NT_167246.1:g.4676620T>C, NT_167247.2:g.4687521T>C, NT_167247.1:g.4693106T>C, NM_022553.6:c.2004A>G, NM_022553.5:c.2004A>G, NM_022553.4:c.2004A>G, NM_080564.1:c.2004A>G, XM_011514798.3:c.1803A>G, XM_011514798.2:c.1803A>G, XM_011514798.1:c.1803A>G, NM_001289174.2:c.1803A>G, NM_001289174.1:c.1803A>G, XM_011514799.2:c.1803A>G, XM_011514799.1:c.1803A>G, NM_001289175.1:c.1629A>G, NM_001289176.1:c.1437A>G, NR_044997.1:n.343T>C, XM_011514797.2:c.1803A>G, XM_011514797.1:c.1803A>G

Select item 148575994515.

rs1485759945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33252809 (GRCh38)
6:33220586 (GRCh37)
Canonical SPDI:: NC_000006.12:33252808:T:C
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33252809T>C, NC_000006.11:g.33220586T>C, NT_113891.3:g.4664306T>C, NT_113891.2:g.4664412T>C, NT_167248.2:g.4447207T>C, NT_167248.1:g.4452803T>C, NT_167245.2:g.4496321T>C, NT_167245.1:g.4501906T>C, NT_167249.2:g.4701510T>C, NT_167249.1:g.4700808T>C, NT_167246.2:g.4672270T>C, NT_167246.1:g.4677890T>C, NT_167247.2:g.4688788T>C, NT_167247.1:g.4694373T>C

Select item 148490746216.

rs1484907462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33252689 (GRCh38)
6:33220466 (GRCh37)
Canonical SPDI:: NC_000006.12:33252688:G:A
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33252689G>A, NC_000006.11:g.33220466G>A, NT_113891.3:g.4664186G>A, NT_113891.2:g.4664292G>A, NT_167248.2:g.4447087G>A, NT_167248.1:g.4452683G>A, NT_167245.2:g.4496201G>A, NT_167245.1:g.4501786G>A, NT_167249.2:g.4701390G>A, NT_167249.1:g.4700688G>A, NT_167246.2:g.4672150G>A, NT_167246.1:g.4677770G>A, NT_167247.2:g.4688668G>A, NT_167247.1:g.4694253G>A

Select item 148485656117.

rs1484856561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33254744 (GRCh38)
6:33222521 (GRCh37)
Canonical SPDI:: NC_000006.12:33254743:C:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33254744C>T, NC_000006.11:g.33222521C>T, NT_113891.3:g.4666241C>T, NT_113891.2:g.4666347C>T, NT_167248.2:g.4449141C>T, NT_167248.1:g.4454737C>T, NT_167245.2:g.4498256C>T, NT_167245.1:g.4503841C>T, NT_167249.2:g.4703445C>T, NT_167249.1:g.4702743C>T, NT_167246.2:g.4674205C>T, NT_167246.1:g.4679825C>T, NT_167247.2:g.4690723C>T, NT_167247.1:g.4696308C>T, NR_044997.1:n.557C>T

Select item 148474256418.

rs1484742564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33251380 (GRCh38)
6:33219157 (GRCh37)
Canonical SPDI:: NC_000006.12:33251379:T:G
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.0096/28 (KOREAN)
HGVS:: NC_000006.12:g.33251380T>G, NC_000006.11:g.33219157T>G, NT_113891.3:g.4662877T>G, NT_113891.2:g.4662983T>G, NT_167248.2:g.4445780T>G, NT_167248.1:g.4451376T>G, NT_167245.2:g.4494892T>G, NT_167245.1:g.4500477T>G, NT_167249.2:g.4700084T>G, NT_167249.1:g.4699382T>G, NT_167246.2:g.4670841T>G, NT_167246.1:g.4676461T>G, NT_167247.2:g.4687362T>G, NT_167247.1:g.4692947T>G

Select item 148332902319.

rs1483329023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33254776 (GRCh38)
6:33222553 (GRCh37)
Canonical SPDI:: NC_000006.12:33254775:A:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33254776A>T, NC_000006.11:g.33222553A>T, NT_113891.3:g.4666273A>T, NT_113891.2:g.4666379A>T, NT_167248.2:g.4449173A>T, NT_167248.1:g.4454769A>T, NT_167245.2:g.4498288A>T, NT_167245.1:g.4503873A>T, NT_167249.2:g.4703477A>T, NT_167249.1:g.4702775A>T, NT_167246.2:g.4674237A>T, NT_167246.1:g.4679857A>T, NT_167247.2:g.4690755A>T, NT_167247.1:g.4696340A>T, NR_044997.1:n.589A>T

Select item 148275553520.

rs1482755535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33255117 (GRCh38)
6:33222894 (GRCh37)
Canonical SPDI:: NC_000006.12:33255116:C:T
Gene:: VPS52 (Varview), HCG25 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_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.33255117C>T, NC_000006.11:g.33222894C>T, NT_113891.3:g.4666614C>T, NT_113891.2:g.4666720C>T, NT_167248.2:g.4449514C>T, NT_167248.1:g.4455110C>T, NT_167245.2:g.4498629C>T, NT_167245.1:g.4504214C>T, NT_167249.2:g.4703817C>T, NT_167249.1:g.4703115C>T, NT_167246.2:g.4674578C>T, NT_167246.1:g.4680198C>T, NT_167247.2:g.4691095C>T, NT_167247.1:g.4696680C>T

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