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Select item 14915521591.

rs1491552159 has merged into rs70965149 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:63900233 (GRCh38)
2:64127367 (GRCh37)
Canonical SPDI:: NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:63900220:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.63900233_63900244del, NC_000002.12:g.63900234_63900244del, NC_000002.12:g.63900235_63900244del, NC_000002.12:g.63900236_63900244del, NC_000002.12:g.63900237_63900244del, NC_000002.12:g.63900238_63900244del, NC_000002.12:g.63900239_63900244del, NC_000002.12:g.63900240_63900244del, NC_000002.12:g.63900241_63900244del, NC_000002.12:g.63900242_63900244del, NC_000002.12:g.63900243_63900244del, NC_000002.12:g.63900244del, NC_000002.12:g.63900244dup, NC_000002.12:g.63900243_63900244dup, NC_000002.12:g.63900242_63900244dup, NC_000002.12:g.63900241_63900244dup, NC_000002.12:g.63900240_63900244dup, NC_000002.12:g.63900239_63900244dup, NC_000002.12:g.63900238_63900244dup, NC_000002.12:g.63900237_63900244dup, NC_000002.12:g.63900236_63900244dup, NC_000002.12:g.63900222_63900244dup, NC_000002.12:g.63900244_63900245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.63900244_63900245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.63900244_63900245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.63900244_63900245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64127367_64127378del, NC_000002.11:g.64127368_64127378del, NC_000002.11:g.64127369_64127378del, NC_000002.11:g.64127370_64127378del, NC_000002.11:g.64127371_64127378del, NC_000002.11:g.64127372_64127378del, NC_000002.11:g.64127373_64127378del, NC_000002.11:g.64127374_64127378del, NC_000002.11:g.64127375_64127378del, NC_000002.11:g.64127376_64127378del, NC_000002.11:g.64127377_64127378del, NC_000002.11:g.64127378del, NC_000002.11:g.64127378dup, NC_000002.11:g.64127377_64127378dup, NC_000002.11:g.64127376_64127378dup, NC_000002.11:g.64127375_64127378dup, NC_000002.11:g.64127374_64127378dup, NC_000002.11:g.64127373_64127378dup, NC_000002.11:g.64127372_64127378dup, NC_000002.11:g.64127371_64127378dup, NC_000002.11:g.64127370_64127378dup, NC_000002.11:g.64127356_64127378dup, NC_000002.11:g.64127378_64127379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64127378_64127379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64127378_64127379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64127378_64127379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042277.1:g.123849_123860del, NG_042277.1:g.123850_123860del, NG_042277.1:g.123851_123860del, NG_042277.1:g.123852_123860del, NG_042277.1:g.123853_123860del, NG_042277.1:g.123854_123860del, NG_042277.1:g.123855_123860del, NG_042277.1:g.123856_123860del, NG_042277.1:g.123857_123860del, NG_042277.1:g.123858_123860del, NG_042277.1:g.123859_123860del, NG_042277.1:g.123860del, NG_042277.1:g.123860dup, NG_042277.1:g.123859_123860dup, NG_042277.1:g.123858_123860dup, NG_042277.1:g.123857_123860dup, NG_042277.1:g.123856_123860dup, NG_042277.1:g.123855_123860dup, NG_042277.1:g.123854_123860dup, NG_042277.1:g.123853_123860dup, NG_042277.1:g.123852_123860dup, NG_042277.1:g.123838_123860dup, NG_042277.1:g.123860_123861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042277.1:g.123860_123861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042277.1:g.123860_123861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042277.1:g.123860_123861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915515852.

rs1491551585 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:64018747 (GRCh38)
2:64245881 (GRCh37)
Canonical SPDI:: NC_000002.12:64018746:GA:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000002.12:g.64018747_64018748del, NC_000002.11:g.64245881_64245882del, NG_042277.1:g.5333_5334del

Select item 14915380253.

rs1491538025 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:63957441 (GRCh38)
2:64184575 (GRCh37)
Canonical SPDI:: NC_000002.12:63957440:CA:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.63957441_63957442del, NC_000002.11:g.64184575_64184576del, NG_042277.1:g.66639_66640del

Select item 14915027534.

rs1491502753 has merged into rs560700373 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:63948425 (GRCh38)
2:64175559 (GRCh37)
Canonical SPDI:: NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63948414:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTT=0.027/15 (NorthernSweden)
-=0.2364/1184 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.63948425_63948435del, NC_000002.12:g.63948431_63948435del, NC_000002.12:g.63948432_63948435del, NC_000002.12:g.63948433_63948435del, NC_000002.12:g.63948434_63948435del, NC_000002.12:g.63948435del, NC_000002.12:g.63948435dup, NC_000002.12:g.63948434_63948435dup, NC_000002.12:g.63948433_63948435dup, NC_000002.12:g.63948432_63948435dup, NC_000002.12:g.63948431_63948435dup, NC_000002.12:g.63948430_63948435dup, NC_000002.12:g.63948429_63948435dup, NC_000002.12:g.63948428_63948435dup, NC_000002.12:g.63948415_63948435T[29]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.63948427_63948435dup, NC_000002.12:g.63948426_63948435dup, NC_000002.12:g.63948423_63948435dup, NC_000002.12:g.63948422_63948435dup, NC_000002.11:g.64175559_64175569del, NC_000002.11:g.64175565_64175569del, NC_000002.11:g.64175566_64175569del, NC_000002.11:g.64175567_64175569del, NC_000002.11:g.64175568_64175569del, NC_000002.11:g.64175569del, NC_000002.11:g.64175569dup, NC_000002.11:g.64175568_64175569dup, NC_000002.11:g.64175567_64175569dup, NC_000002.11:g.64175566_64175569dup, NC_000002.11:g.64175565_64175569dup, NC_000002.11:g.64175564_64175569dup, NC_000002.11:g.64175563_64175569dup, NC_000002.11:g.64175562_64175569dup, NC_000002.11:g.64175549_64175569T[29]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.64175561_64175569dup, NC_000002.11:g.64175560_64175569dup, NC_000002.11:g.64175557_64175569dup, NC_000002.11:g.64175556_64175569dup, NG_042277.1:g.75656_75666del, NG_042277.1:g.75662_75666del, NG_042277.1:g.75663_75666del, NG_042277.1:g.75664_75666del, NG_042277.1:g.75665_75666del, NG_042277.1:g.75666del, NG_042277.1:g.75666dup, NG_042277.1:g.75665_75666dup, NG_042277.1:g.75664_75666dup, NG_042277.1:g.75663_75666dup, NG_042277.1:g.75662_75666dup, NG_042277.1:g.75661_75666dup, NG_042277.1:g.75660_75666dup, NG_042277.1:g.75659_75666dup, NG_042277.1:g.75646_75666A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042277.1:g.75658_75666dup, NG_042277.1:g.75657_75666dup, NG_042277.1:g.75654_75666dup, NG_042277.1:g.75653_75666dup

Select item 14914962865.

rs1491496286 has merged into rs11316408 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:64012465 (GRCh38)
2:64239599 (GRCh37)
Canonical SPDI:: NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64012455:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS54 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4359/2183 (1000Genomes)
HGVS:: NC_000002.12:g.64012465_64012476del, NC_000002.12:g.64012469_64012476del, NC_000002.12:g.64012470_64012476del, NC_000002.12:g.64012471_64012476del, NC_000002.12:g.64012472_64012476del, NC_000002.12:g.64012473_64012476del, NC_000002.12:g.64012474_64012476del, NC_000002.12:g.64012475_64012476del, NC_000002.12:g.64012476del, NC_000002.12:g.64012476dup, NC_000002.12:g.64012475_64012476dup, NC_000002.12:g.64012471_64012476dup, NC_000002.11:g.64239599_64239610del, NC_000002.11:g.64239603_64239610del, NC_000002.11:g.64239604_64239610del, NC_000002.11:g.64239605_64239610del, NC_000002.11:g.64239606_64239610del, NC_000002.11:g.64239607_64239610del, NC_000002.11:g.64239608_64239610del, NC_000002.11:g.64239609_64239610del, NC_000002.11:g.64239610del, NC_000002.11:g.64239610dup, NC_000002.11:g.64239609_64239610dup, NC_000002.11:g.64239605_64239610dup, NG_042277.1:g.11614_11625del, NG_042277.1:g.11618_11625del, NG_042277.1:g.11619_11625del, NG_042277.1:g.11620_11625del, NG_042277.1:g.11621_11625del, NG_042277.1:g.11622_11625del, NG_042277.1:g.11623_11625del, NG_042277.1:g.11624_11625del, NG_042277.1:g.11625del, NG_042277.1:g.11625dup, NG_042277.1:g.11624_11625dup, NG_042277.1:g.11620_11625dup

Select item 14914781716.

rs1491478171 has merged into rs1174931536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:63976834 (GRCh38)
2:64203968 (GRCh37)
Canonical SPDI:: NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:63976825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.63976834_63976846del, NC_000002.12:g.63976835_63976846del, NC_000002.12:g.63976836_63976846del, NC_000002.12:g.63976837_63976846del, NC_000002.12:g.63976838_63976846del, NC_000002.12:g.63976840_63976846del, NC_000002.12:g.63976841_63976846del, NC_000002.12:g.63976842_63976846del, NC_000002.12:g.63976843_63976846del, NC_000002.12:g.63976844_63976846del, NC_000002.12:g.63976845_63976846del, NC_000002.12:g.63976846del, NC_000002.12:g.63976846dup, NC_000002.12:g.63976845_63976846dup, NC_000002.12:g.63976844_63976846dup, NC_000002.12:g.63976826_63976846T[24]AAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.63976843_63976846dup, NC_000002.12:g.63976842_63976846dup, NC_000002.12:g.63976841_63976846dup, NC_000002.12:g.63976840_63976846dup, NC_000002.12:g.63976839_63976846dup, NC_000002.12:g.63976838_63976846dup, NC_000002.12:g.63976837_63976846dup, NC_000002.12:g.63976836_63976846dup, NC_000002.12:g.63976835_63976846dup, NC_000002.12:g.63976834_63976846dup, NC_000002.12:g.63976833_63976846dup, NC_000002.12:g.63976832_63976846dup, NC_000002.12:g.63976831_63976846dup, NC_000002.12:g.63976829_63976846dup, NC_000002.12:g.63976826_63976846dup, NC_000002.12:g.63976846_63976847insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.63976846_63976847insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.64203968_64203980del, NC_000002.11:g.64203969_64203980del, NC_000002.11:g.64203970_64203980del, NC_000002.11:g.64203971_64203980del, NC_000002.11:g.64203972_64203980del, NC_000002.11:g.64203974_64203980del, NC_000002.11:g.64203975_64203980del, NC_000002.11:g.64203976_64203980del, NC_000002.11:g.64203977_64203980del, NC_000002.11:g.64203978_64203980del, NC_000002.11:g.64203979_64203980del, NC_000002.11:g.64203980del, NC_000002.11:g.64203980dup, NC_000002.11:g.64203979_64203980dup, NC_000002.11:g.64203978_64203980dup, NC_000002.11:g.64203960_64203980T[24]AAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.64203977_64203980dup, NC_000002.11:g.64203976_64203980dup, NC_000002.11:g.64203975_64203980dup, NC_000002.11:g.64203974_64203980dup, NC_000002.11:g.64203973_64203980dup, NC_000002.11:g.64203972_64203980dup, NC_000002.11:g.64203971_64203980dup, NC_000002.11:g.64203970_64203980dup, NC_000002.11:g.64203969_64203980dup, NC_000002.11:g.64203968_64203980dup, NC_000002.11:g.64203967_64203980dup, NC_000002.11:g.64203966_64203980dup, NC_000002.11:g.64203965_64203980dup, NC_000002.11:g.64203963_64203980dup, NC_000002.11:g.64203960_64203980dup, NC_000002.11:g.64203980_64203981insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.64203980_64203981insTTTTTTTTTTTTTTTTTTTTTTT, NG_042277.1:g.47243_47255del, NG_042277.1:g.47244_47255del, NG_042277.1:g.47245_47255del, NG_042277.1:g.47246_47255del, NG_042277.1:g.47247_47255del, NG_042277.1:g.47249_47255del, NG_042277.1:g.47250_47255del, NG_042277.1:g.47251_47255del, NG_042277.1:g.47252_47255del, NG_042277.1:g.47253_47255del, NG_042277.1:g.47254_47255del, NG_042277.1:g.47255del, NG_042277.1:g.47255dup, NG_042277.1:g.47254_47255dup, NG_042277.1:g.47253_47255dup, NG_042277.1:g.47235_47255A[30]TTTAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042277.1:g.47252_47255dup, NG_042277.1:g.47251_47255dup, NG_042277.1:g.47250_47255dup, NG_042277.1:g.47249_47255dup, NG_042277.1:g.47248_47255dup, NG_042277.1:g.47247_47255dup, NG_042277.1:g.47246_47255dup, NG_042277.1:g.47245_47255dup, NG_042277.1:g.47244_47255dup, NG_042277.1:g.47243_47255dup, NG_042277.1:g.47242_47255dup, NG_042277.1:g.47241_47255dup, NG_042277.1:g.47240_47255dup, NG_042277.1:g.47238_47255dup, NG_042277.1:g.47235_47255dup, NG_042277.1:g.47255_47256insAAAAAAAAAAAAAAAAAAAAAA, NG_042277.1:g.47255_47256insAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914701597.

rs1491470159 has merged into rs560705872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 2:63970206 (GRCh38)
2:64197340 (GRCh37)
Canonical SPDI:: NC_000002.12:63970202:ATATATATATA:ATA,NC_000002.12:63970202:ATATATATATA:ATATA,NC_000002.12:63970202:ATATATATATA:ATATATA,NC_000002.12:63970202:ATATATATATA:ATATATATA,NC_000002.12:63970202:ATATATATATA:ATATATATATATA,NC_000002.12:63970202:ATATATATATA:ATATATATATATATA
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.63970204TA[1], NC_000002.12:g.63970204TA[2], NC_000002.12:g.63970204TA[3], NC_000002.12:g.63970204TA[4], NC_000002.12:g.63970204TA[6], NC_000002.12:g.63970204TA[7], NC_000002.11:g.64197338TA[1], NC_000002.11:g.64197338TA[2], NC_000002.11:g.64197338TA[3], NC_000002.11:g.64197338TA[4], NC_000002.11:g.64197338TA[6], NC_000002.11:g.64197338TA[7], NG_042277.1:g.53869AT[1], NG_042277.1:g.53869AT[2], NG_042277.1:g.53869AT[3], NG_042277.1:g.53869AT[4], NG_042277.1:g.53869AT[6], NG_042277.1:g.53869AT[7]

Select item 14914649718.

rs1491464971 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:63915152 (GRCh38)
2:64142287 (GRCh37)
Canonical SPDI:: NC_000002.12:63915152::C
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.63915152_63915153insC, NC_000002.11:g.64142286_64142287insC, NG_042277.1:g.108928_108929insG

Select item 14914513639.

rs1491451363 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:63974971 (GRCh38)
2:64202105 (GRCh37)
Canonical SPDI:: NC_000002.12:63974970:AG:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.63974971_63974972del, NC_000002.11:g.64202105_64202106del, NG_042277.1:g.49109_49110del

Select item 149144187510.

rs1491441875 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:63951206 (GRCh38)
2:64178340 (GRCh37)
Canonical SPDI:: NC_000002.12:63951205:CT:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000253/3 (ALFA)
-=0.000173/18 (GnomAD)
HGVS:: NC_000002.12:g.63951206_63951207del, NC_000002.11:g.64178340_64178341del, NG_042277.1:g.72874_72875del

Select item 149134810411.

rs1491348104 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 2:63942257 (GRCh38)
2:64169392 (GRCh37)
Canonical SPDI:: NC_000002.12:63942257::TAT
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.63942257_63942258insTAT, NC_000002.11:g.64169391_64169392insTAT, NG_042277.1:g.81823_81824insATA

Select item 149131448212.

rs1491314482 has merged into rs1336592832 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:63970252 (GRCh38)
2:64197386 (GRCh37)
Canonical SPDI:: NC_000002.12:63970242:ATATATATATA:ATATATATA,NC_000002.12:63970242:ATATATATATA:ATATATATATATA,NC_000002.12:63970242:ATATATATATA:ATATATATATATATA,NC_000002.12:63970242:ATATATATATA:ATATATATATATATATA,NC_000002.12:63970242:ATATATATATA:ATATATATATATATATATATATATATATATA
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.63970244TA[4], NC_000002.12:g.63970244TA[6], NC_000002.12:g.63970244TA[7], NC_000002.12:g.63970244TA[8], NC_000002.12:g.63970244TA[15], NC_000002.11:g.64197378TA[4], NC_000002.11:g.64197378TA[6], NC_000002.11:g.64197378TA[7], NC_000002.11:g.64197378TA[8], NC_000002.11:g.64197378TA[15], NG_042277.1:g.53829AT[4], NG_042277.1:g.53829AT[6], NG_042277.1:g.53829AT[7], NG_042277.1:g.53829AT[8], NG_042277.1:g.53829AT[15]

Select item 149126513813.

rs1491265138 has merged into rs1319743844 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:63970254 (GRCh38)
2:64197388 (GRCh37)
Canonical SPDI:: NC_000002.12:63970252:AGA:A
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.63970254_63970255del, NC_000002.11:g.64197388_64197389del, NG_042277.1:g.53827_53828del

Select item 149123325314.

rs1491233253 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:63970242 (GRCh38)
2:64197376 (GRCh37)
Canonical SPDI:: NC_000002.12:63970241:AA:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.63970242_63970243del, NC_000002.11:g.64197376_64197377del, NG_042277.1:g.53838_53839del

Select item 149123306015.

rs1491233060 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:63929704 (GRCh38)
2:64156838 (GRCh37)
Canonical SPDI:: NC_000002.12:63929703:TC:
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.63929704_63929705del, NC_000002.11:g.64156838_64156839del, NG_042277.1:g.94376_94377del

Select item 149121951116.

rs1491219511 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGATATATAT>-,TGATATATATTGATATATAT [Show Flanks]
Chromosome:: 2:64013660 (GRCh38)
2:64240794 (GRCh37)
Canonical SPDI:: NC_000002.12:64013650:GATATATATTGATATATAT:GATATATAT,NC_000002.12:64013650:GATATATATTGATATATAT:GATATATATTGATATATATTGATATATAT
Gene:: VPS54 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GATATATATTGATATATATTGATATATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.64013660_64013669del, NC_000002.12:g.64013660_64013669dup, NC_000002.11:g.64240794_64240803del, NC_000002.11:g.64240794_64240803dup, NG_042277.1:g.10421_10430del, NG_042277.1:g.10421_10430dup

Select item 149121310917.

rs1491213109 has merged into rs35913134 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:64018758 (GRCh38)
2:64245892 (GRCh37)
Canonical SPDI:: NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:64018747:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.1025/395 (ALSPAC)
A=0.4687/2347 (1000Genomes)
HGVS:: NC_000002.12:g.64018758_64018765del, NC_000002.12:g.64018759_64018765del, NC_000002.12:g.64018762_64018765del, NC_000002.12:g.64018763_64018765del, NC_000002.12:g.64018764_64018765del, NC_000002.12:g.64018765del, NC_000002.12:g.64018765dup, NC_000002.12:g.64018764_64018765dup, NC_000002.12:g.64018763_64018765dup, NC_000002.11:g.64245892_64245899del, NC_000002.11:g.64245893_64245899del, NC_000002.11:g.64245896_64245899del, NC_000002.11:g.64245897_64245899del, NC_000002.11:g.64245898_64245899del, NC_000002.11:g.64245899del, NC_000002.11:g.64245899dup, NC_000002.11:g.64245898_64245899dup, NC_000002.11:g.64245897_64245899dup, NG_042277.1:g.5326_5333del, NG_042277.1:g.5327_5333del, NG_042277.1:g.5330_5333del, NG_042277.1:g.5331_5333del, NG_042277.1:g.5332_5333del, NG_042277.1:g.5333del, NG_042277.1:g.5333dup, NG_042277.1:g.5332_5333dup, NG_042277.1:g.5331_5333dup

Select item 149119744418.

rs1491197444 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 2:64013651 (GRCh38)
2:64240785 (GRCh37)
Canonical SPDI:: NC_000002.12:64013649:AGA:A,NC_000002.12:64013649:AGA:AGAGA
Gene:: VPS54 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0./0 (GnomAD)
-=0.000071/1 (TOMMO)
-=0.001116/2 (Korea1K)
HGVS:: NC_000002.12:g.64013651_64013652del, NC_000002.12:g.64013651_64013652dup, NC_000002.11:g.64240785_64240786del, NC_000002.11:g.64240785_64240786dup, NG_042277.1:g.10430_10431del, NG_042277.1:g.10430_10431dup

Select item 149118984819.

rs1491189848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 2:63985678 (GRCh38)
2:64212813 (GRCh37)
Canonical SPDI:: NC_000002.12:63985678:A:ACA,NC_000002.12:63985678:A:ACACA,NC_000002.12:63985678:A:ACACACA,NC_000002.12:63985678:A:ACACACACA,NC_000002.12:63985678:A:ACACACACACA,NC_000002.12:63985678:A:ACACACACACACA,NC_000002.12:63985678:A:ACACACACACACACA
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.63985679_63985680insCA, NC_000002.12:g.63985679_63985680insCACA, NC_000002.12:g.63985680CA[3], NC_000002.12:g.63985680CA[4], NC_000002.12:g.63985680CA[5], NC_000002.12:g.63985680CA[6], NC_000002.12:g.63985680CA[7], NC_000002.11:g.64212813_64212814insCA, NC_000002.11:g.64212813_64212814insCACA, NC_000002.11:g.64212814CA[3], NC_000002.11:g.64212814CA[4], NC_000002.11:g.64212814CA[5], NC_000002.11:g.64212814CA[6], NC_000002.11:g.64212814CA[7], NG_042277.1:g.38402_38403insGT, NG_042277.1:g.38402_38403insGTGT, NG_042277.1:g.38403GT[3], NG_042277.1:g.38403GT[4], NG_042277.1:g.38403GT[5], NG_042277.1:g.38403GT[6], NG_042277.1:g.38403GT[7]

Select item 149118862420.

rs1491188624 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:63974971 (GRCh38)
2:64202106 (GRCh37)
Canonical SPDI:: NC_000002.12:63974971:GGGG:GGGGG
Gene:: VPS54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.63974975dup, NC_000002.11:g.64202109dup, NG_042277.1:g.49109dup

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