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Select item 14915412211.

rs1491541221 has merged into rs59964484 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:24219485 (GRCh38)
14:24688691 (GRCh37)
Canonical SPDI:: NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24219475:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000014.9:g.24219485_24219501del, NC_000014.9:g.24219487_24219501del, NC_000014.9:g.24219488_24219501del, NC_000014.9:g.24219489_24219501del, NC_000014.9:g.24219490_24219501del, NC_000014.9:g.24219491_24219501del, NC_000014.9:g.24219492_24219501del, NC_000014.9:g.24219493_24219501del, NC_000014.9:g.24219494_24219501del, NC_000014.9:g.24219495_24219501del, NC_000014.9:g.24219496_24219501del, NC_000014.9:g.24219497_24219501del, NC_000014.9:g.24219498_24219501del, NC_000014.9:g.24219499_24219501del, NC_000014.9:g.24219500_24219501del, NC_000014.9:g.24219501del, NC_000014.9:g.24219501dup, NC_000014.9:g.24219500_24219501dup, NC_000014.9:g.24219499_24219501dup, NC_000014.9:g.24219498_24219501dup, NC_000014.9:g.24219497_24219501dup, NC_000014.9:g.24219496_24219501dup, NC_000014.9:g.24219495_24219501dup, NC_000014.9:g.24219494_24219501dup, NC_000014.9:g.24219493_24219501dup, NC_000014.9:g.24219492_24219501dup, NC_000014.9:g.24219491_24219501dup, NC_000014.9:g.24219489_24219501dup, NC_000014.9:g.24219488_24219501dup, NC_000014.9:g.24219486_24219501dup, NC_000014.9:g.24219485_24219501dup, NC_000014.9:g.24219484_24219501dup, NC_000014.9:g.24219483_24219501dup, NC_000014.9:g.24219482_24219501dup, NC_000014.9:g.24219480_24219501dup, NC_000014.9:g.24219479_24219501dup, NC_000014.9:g.24219477_24219501dup, NC_000014.9:g.24219501_24219502insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.24219501_24219502insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.24219501_24219502insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051059.1:g.17894_17910del, NG_051059.1:g.17896_17910del, NG_051059.1:g.17897_17910del, NG_051059.1:g.17898_17910del, NG_051059.1:g.17899_17910del, NG_051059.1:g.17900_17910del, NG_051059.1:g.17901_17910del, NG_051059.1:g.17902_17910del, NG_051059.1:g.17903_17910del, NG_051059.1:g.17904_17910del, NG_051059.1:g.17905_17910del, NG_051059.1:g.17906_17910del, NG_051059.1:g.17907_17910del, NG_051059.1:g.17908_17910del, NG_051059.1:g.17909_17910del, NG_051059.1:g.17910del, NG_051059.1:g.17910dup, NG_051059.1:g.17909_17910dup, NG_051059.1:g.17908_17910dup, NG_051059.1:g.17907_17910dup, NG_051059.1:g.17906_17910dup, NG_051059.1:g.17905_17910dup, NG_051059.1:g.17904_17910dup, NG_051059.1:g.17903_17910dup, NG_051059.1:g.17902_17910dup, NG_051059.1:g.17901_17910dup, NG_051059.1:g.17900_17910dup, NG_051059.1:g.17898_17910dup, NG_051059.1:g.17897_17910dup, NG_051059.1:g.17895_17910dup, NG_051059.1:g.17894_17910dup, NG_051059.1:g.17893_17910dup, NG_051059.1:g.17892_17910dup, NG_051059.1:g.17891_17910dup, NG_051059.1:g.17889_17910dup, NG_051059.1:g.17888_17910dup, NG_051059.1:g.17886_17910dup, NG_051059.1:g.17910_17911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051059.1:g.17910_17911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051059.1:g.17910_17911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.520463_520479del, NW_018654722.1:g.520465_520479del, NW_018654722.1:g.520466_520479del, NW_018654722.1:g.520467_520479del, NW_018654722.1:g.520468_520479del, NW_018654722.1:g.520469_520479del, NW_018654722.1:g.520470_520479del, NW_018654722.1:g.520471_520479del, NW_018654722.1:g.520472_520479del, NW_018654722.1:g.520473_520479del, NW_018654722.1:g.520474_520479del, NW_018654722.1:g.520475_520479del, NW_018654722.1:g.520476_520479del, NW_018654722.1:g.520477_520479del, NW_018654722.1:g.520478_520479del, NW_018654722.1:g.520479del, NW_018654722.1:g.520479dup, NW_018654722.1:g.520478_520479dup, NW_018654722.1:g.520477_520479dup, NW_018654722.1:g.520476_520479dup, NW_018654722.1:g.520475_520479dup, NW_018654722.1:g.520474_520479dup, NW_018654722.1:g.520473_520479dup, NW_018654722.1:g.520472_520479dup, NW_018654722.1:g.520471_520479dup, NW_018654722.1:g.520470_520479dup, NW_018654722.1:g.520469_520479dup, NW_018654722.1:g.520467_520479dup, NW_018654722.1:g.520466_520479dup, NW_018654722.1:g.520464_520479dup, NW_018654722.1:g.520463_520479dup, NW_018654722.1:g.520462_520479dup, NW_018654722.1:g.520461_520479dup, NW_018654722.1:g.520460_520479dup, NW_018654722.1:g.520458_520479dup, NW_018654722.1:g.520457_520479dup, NW_018654722.1:g.520455_520479dup, NW_018654722.1:g.520479_520480insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654722.1:g.520479_520480insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654722.1:g.520479_520480insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.24688691_24688707del, NC_000014.8:g.24688693_24688707del, NC_000014.8:g.24688694_24688707del, NC_000014.8:g.24688695_24688707del, NC_000014.8:g.24688696_24688707del, NC_000014.8:g.24688697_24688707del, NC_000014.8:g.24688698_24688707del, NC_000014.8:g.24688699_24688707del, NC_000014.8:g.24688700_24688707del, NC_000014.8:g.24688701_24688707del, NC_000014.8:g.24688702_24688707del, NC_000014.8:g.24688703_24688707del, NC_000014.8:g.24688704_24688707del, NC_000014.8:g.24688705_24688707del, NC_000014.8:g.24688706_24688707del, NC_000014.8:g.24688707del, NC_000014.8:g.24688707dup, NC_000014.8:g.24688706_24688707dup, NC_000014.8:g.24688705_24688707dup, NC_000014.8:g.24688704_24688707dup, NC_000014.8:g.24688703_24688707dup, NC_000014.8:g.24688702_24688707dup, NC_000014.8:g.24688701_24688707dup, NC_000014.8:g.24688700_24688707dup, NC_000014.8:g.24688699_24688707dup, NC_000014.8:g.24688698_24688707dup, NC_000014.8:g.24688697_24688707dup, NC_000014.8:g.24688695_24688707dup, NC_000014.8:g.24688694_24688707dup, NC_000014.8:g.24688692_24688707dup, NC_000014.8:g.24688691_24688707dup, NC_000014.8:g.24688690_24688707dup, NC_000014.8:g.24688689_24688707dup, NC_000014.8:g.24688688_24688707dup, NC_000014.8:g.24688686_24688707dup, NC_000014.8:g.24688685_24688707dup, NC_000014.8:g.24688683_24688707dup, NC_000014.8:g.24688707_24688708insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.24688707_24688708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.24688707_24688708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915329232.

rs1491532923 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:24228719 (GRCh38)
14:24697925 (GRCh37)
Canonical SPDI:: NC_000014.9:24228718:CA:
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000014.9:g.24228719_24228720del, NG_051059.1:g.8666_8667del, NG_054634.1:g.1303_1304del, NW_018654722.1:g.529697_529698del, NC_000014.8:g.24697925_24697926del

Select item 14915096123.

rs1491509612 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 14:24212738 (GRCh38)
14:24681945 (GRCh37)
Canonical SPDI:: NC_000014.9:24212738::TC
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24212738_24212739insTC, NG_051059.1:g.24647_24648insGA, NW_018654722.1:g.513716_513717insTC, NC_000014.8:g.24681944_24681945insTC

Select item 14914926374.

rs1491492637 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:24230534 (GRCh38)
14:24699740 (GRCh37)
Canonical SPDI:: NC_000014.9:24230533:CA:
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000014.9:g.24230534_24230535del, NG_051059.1:g.6851_6852del, NG_054634.1:g.3118_3119del, NW_018654722.1:g.531512_531513del, NC_000014.8:g.24699740_24699741del

Select item 14914780635.

rs1491478063 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:24212554 (GRCh38)
14:24681760 (GRCh37)
Canonical SPDI:: NC_000014.9:24212553:AT:
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.24212554_24212555del, NG_051059.1:g.24831_24832del, NW_018654722.1:g.513532_513533del, NC_000014.8:g.24681760_24681761del

Select item 14914321006.

rs1491432100 has merged into rs34063134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 14:24232409 (GRCh38)
14:24701616 (GRCh37)
Canonical SPDI:: NC_000014.9:24232409:A:AA,NC_000014.9:24232409:A:AAA
Gene:: NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000014.9:g.24232410dup, NC_000014.9:g.24232410_24232411insAA, NG_051059.1:g.4976dup, NG_051059.1:g.4976_4977insTT, NG_054634.1:g.4994dup, NG_054634.1:g.4994_4995insAA, NG_056670.1:g.248dup, NG_056670.1:g.248_249insAA, NW_018654722.1:g.533388dup, NW_018654722.1:g.533388_533389insAA, NC_000014.8:g.24701616dup, NC_000014.8:g.24701616_24701617insAA

Select item 14914302347.

rs1491430234 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAA [Show Flanks]
Chromosome:: 14:24219476 (GRCh38)
14:24688683 (GRCh37)
Canonical SPDI:: NC_000014.9:24219476:AAA:AAAGAAA
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.24219479_24219480insGAAA, NG_051059.1:g.17909_17910insCTTT, NW_018654722.1:g.520457_520458insGAAA, NC_000014.8:g.24688685_24688686insGAAA

Select item 14913799218.

rs1491379921 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 14:24232410 (GRCh38)
14:24701616 (GRCh37)
Canonical SPDI:: NC_000014.9:24232408:CAC:C
Gene:: NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00034/4 (ALFA)
-=0.00015/4 (TOMMO)
-=0.00049/33 (GnomAD)
HGVS:: NC_000014.9:g.24232410_24232411del, NG_051059.1:g.4976_4977del, NG_054634.1:g.4994_4995del, NG_056670.1:g.248_249del, NW_018654722.1:g.533388_533389del, NC_000014.8:g.24701616_24701617del

Select item 14912896609.

rs1491289660 has merged into rs34325177 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:24226458 (GRCh38)
14:24695664 (GRCh37)
Canonical SPDI:: NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24226445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2971/1488 (1000Genomes)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000014.9:g.24226458_24226463del, NC_000014.9:g.24226460_24226463del, NC_000014.9:g.24226461_24226463del, NC_000014.9:g.24226462_24226463del, NC_000014.9:g.24226463del, NC_000014.9:g.24226463dup, NC_000014.9:g.24226462_24226463dup, NC_000014.9:g.24226461_24226463dup, NC_000014.9:g.24226458_24226463dup, NC_000014.9:g.24226456_24226463dup, NG_051059.1:g.10935_10940del, NG_051059.1:g.10937_10940del, NG_051059.1:g.10938_10940del, NG_051059.1:g.10939_10940del, NG_051059.1:g.10940del, NG_051059.1:g.10940dup, NG_051059.1:g.10939_10940dup, NG_051059.1:g.10938_10940dup, NG_051059.1:g.10935_10940dup, NG_051059.1:g.10933_10940dup, NW_018654722.1:g.527436_527441del, NW_018654722.1:g.527438_527441del, NW_018654722.1:g.527439_527441del, NW_018654722.1:g.527440_527441del, NW_018654722.1:g.527441del, NW_018654722.1:g.527441dup, NW_018654722.1:g.527440_527441dup, NW_018654722.1:g.527439_527441dup, NW_018654722.1:g.527436_527441dup, NW_018654722.1:g.527434_527441dup, NC_000014.8:g.24695664_24695669del, NC_000014.8:g.24695666_24695669del, NC_000014.8:g.24695667_24695669del, NC_000014.8:g.24695668_24695669del, NC_000014.8:g.24695669del, NC_000014.8:g.24695669dup, NC_000014.8:g.24695668_24695669dup, NC_000014.8:g.24695667_24695669dup, NC_000014.8:g.24695664_24695669dup, NC_000014.8:g.24695662_24695669dup

Select item 149125210410.

rs1491252104 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:24212722 (GRCh38)
14:24681928 (GRCh37)
Canonical SPDI:: NC_000014.9:24212721:AT:
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000199/20 (GnomAD)
-=0.001672/1 (NorthernSweden)
HGVS:: NC_000014.9:g.24212722_24212723del, NG_051059.1:g.24663_24664del, NW_018654722.1:g.513700_513701del, NC_000014.8:g.24681928_24681929del

Select item 149124352111.

rs1491243521 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:24212739 (GRCh38)
14:24681945 (GRCh37)
Canonical SPDI:: NC_000014.9:24212737:TGT:T
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000043/6 (GnomAD)
HGVS:: NC_000014.9:g.24212739_24212740del, NG_051059.1:g.24647_24648del, NW_018654722.1:g.513717_513718del, NC_000014.8:g.24681945_24681946del

Select item 149119636312.

rs1491196363 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:24226445 (GRCh38)
14:24695651 (GRCh37)
Canonical SPDI:: NC_000014.9:24226444:CA:
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00009/3 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000014.9:g.24226445_24226446del, NG_051059.1:g.10940_10941del, NW_018654722.1:g.527423_527424del, NC_000014.8:g.24695651_24695652del

Select item 149117603313.

rs1491176033 has merged into rs11305549 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:24228729 (GRCh38)
14:24697935 (GRCh37)
Canonical SPDI:: NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24228719:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.24228729_24228742del, NC_000014.9:g.24228731_24228742del, NC_000014.9:g.24228732_24228742del, NC_000014.9:g.24228733_24228742del, NC_000014.9:g.24228734_24228742del, NC_000014.9:g.24228735_24228742del, NC_000014.9:g.24228736_24228742del, NC_000014.9:g.24228738_24228742del, NC_000014.9:g.24228739_24228742del, NC_000014.9:g.24228740_24228742del, NC_000014.9:g.24228741_24228742del, NC_000014.9:g.24228742del, NC_000014.9:g.24228742dup, NC_000014.9:g.24228741_24228742dup, NC_000014.9:g.24228740_24228742dup, NC_000014.9:g.24228739_24228742dup, NC_000014.9:g.24228738_24228742dup, NC_000014.9:g.24228737_24228742dup, NC_000014.9:g.24228742_24228743insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.24228742_24228743insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.24228720_24228742A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051059.1:g.8653_8666del, NG_051059.1:g.8655_8666del, NG_051059.1:g.8656_8666del, NG_051059.1:g.8657_8666del, NG_051059.1:g.8658_8666del, NG_051059.1:g.8659_8666del, NG_051059.1:g.8660_8666del, NG_051059.1:g.8662_8666del, NG_051059.1:g.8663_8666del, NG_051059.1:g.8664_8666del, NG_051059.1:g.8665_8666del, NG_051059.1:g.8666del, NG_051059.1:g.8666dup, NG_051059.1:g.8665_8666dup, NG_051059.1:g.8664_8666dup, NG_051059.1:g.8663_8666dup, NG_051059.1:g.8662_8666dup, NG_051059.1:g.8661_8666dup, NG_051059.1:g.8666_8667insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051059.1:g.8666_8667insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051059.1:g.8644_8666T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054634.1:g.1313_1326del, NG_054634.1:g.1315_1326del, NG_054634.1:g.1316_1326del, NG_054634.1:g.1317_1326del, NG_054634.1:g.1318_1326del, NG_054634.1:g.1319_1326del, NG_054634.1:g.1320_1326del, NG_054634.1:g.1322_1326del, NG_054634.1:g.1323_1326del, NG_054634.1:g.1324_1326del, NG_054634.1:g.1325_1326del, NG_054634.1:g.1326del, NG_054634.1:g.1326dup, NG_054634.1:g.1325_1326dup, NG_054634.1:g.1324_1326dup, NG_054634.1:g.1323_1326dup, NG_054634.1:g.1322_1326dup, NG_054634.1:g.1321_1326dup, NG_054634.1:g.1326_1327insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054634.1:g.1326_1327insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054634.1:g.1304_1326A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_018654722.1:g.529707_529720del, NW_018654722.1:g.529709_529720del, NW_018654722.1:g.529710_529720del, NW_018654722.1:g.529711_529720del, NW_018654722.1:g.529712_529720del, NW_018654722.1:g.529713_529720del, NW_018654722.1:g.529714_529720del, NW_018654722.1:g.529716_529720del, NW_018654722.1:g.529717_529720del, NW_018654722.1:g.529718_529720del, NW_018654722.1:g.529719_529720del, NW_018654722.1:g.529720del, NW_018654722.1:g.529720dup, NW_018654722.1:g.529719_529720dup, NW_018654722.1:g.529718_529720dup, NW_018654722.1:g.529717_529720dup, NW_018654722.1:g.529716_529720dup, NW_018654722.1:g.529715_529720dup, NW_018654722.1:g.529720_529721insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654722.1:g.529720_529721insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_018654722.1:g.529698_529720A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.24697935_24697948del, NC_000014.8:g.24697937_24697948del, NC_000014.8:g.24697938_24697948del, NC_000014.8:g.24697939_24697948del, NC_000014.8:g.24697940_24697948del, NC_000014.8:g.24697941_24697948del, NC_000014.8:g.24697942_24697948del, NC_000014.8:g.24697944_24697948del, NC_000014.8:g.24697945_24697948del, NC_000014.8:g.24697946_24697948del, NC_000014.8:g.24697947_24697948del, NC_000014.8:g.24697948del, NC_000014.8:g.24697948dup, NC_000014.8:g.24697947_24697948dup, NC_000014.8:g.24697946_24697948dup, NC_000014.8:g.24697945_24697948dup, NC_000014.8:g.24697944_24697948dup, NC_000014.8:g.24697943_24697948dup, NC_000014.8:g.24697948_24697949insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.24697948_24697949insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.24697926_24697948A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149115083114.

rs1491150831 has merged into rs1181616079 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:24230547 (GRCh38)
14:24699753 (GRCh37)
Canonical SPDI:: NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:24230534:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.24230547_24230554del, NC_000014.9:g.24230548_24230554del, NC_000014.9:g.24230549_24230554del, NC_000014.9:g.24230552_24230554del, NC_000014.9:g.24230553_24230554del, NC_000014.9:g.24230554del, NC_000014.9:g.24230554dup, NC_000014.9:g.24230553_24230554dup, NC_000014.9:g.24230552_24230554dup, NC_000014.9:g.24230551_24230554dup, NG_051059.1:g.6844_6851del, NG_051059.1:g.6845_6851del, NG_051059.1:g.6846_6851del, NG_051059.1:g.6849_6851del, NG_051059.1:g.6850_6851del, NG_051059.1:g.6851del, NG_051059.1:g.6851dup, NG_051059.1:g.6850_6851dup, NG_051059.1:g.6849_6851dup, NG_051059.1:g.6848_6851dup, NG_054634.1:g.3131_3138del, NG_054634.1:g.3132_3138del, NG_054634.1:g.3133_3138del, NG_054634.1:g.3136_3138del, NG_054634.1:g.3137_3138del, NG_054634.1:g.3138del, NG_054634.1:g.3138dup, NG_054634.1:g.3137_3138dup, NG_054634.1:g.3136_3138dup, NG_054634.1:g.3135_3138dup, NW_018654722.1:g.531525_531532del, NW_018654722.1:g.531526_531532del, NW_018654722.1:g.531527_531532del, NW_018654722.1:g.531530_531532del, NW_018654722.1:g.531531_531532del, NW_018654722.1:g.531532del, NW_018654722.1:g.531532dup, NW_018654722.1:g.531531_531532dup, NW_018654722.1:g.531530_531532dup, NW_018654722.1:g.531529_531532dup, NC_000014.8:g.24699753_24699760del, NC_000014.8:g.24699754_24699760del, NC_000014.8:g.24699755_24699760del, NC_000014.8:g.24699758_24699760del, NC_000014.8:g.24699759_24699760del, NC_000014.8:g.24699760del, NC_000014.8:g.24699760dup, NC_000014.8:g.24699759_24699760dup, NC_000014.8:g.24699758_24699760dup, NC_000014.8:g.24699757_24699760dup

Select item 149113998015.

rs1491139980 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:24223085 (GRCh38)
14:24692291 (GRCh37)
Canonical SPDI:: NC_000014.9:24223084:CA:
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.24223085_24223086del, NG_051059.1:g.14300_14301del, NW_018654722.1:g.524063_524064del, NC_000014.8:g.24692291_24692292del

Select item 149105054216.

rs1491050542 has merged into rs71119067 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:24212732 (GRCh38)
14:24681938 (GRCh37)
Canonical SPDI:: NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24212722:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.4946/2477 (1000Genomes)
HGVS:: NC_000014.9:g.24212732_24212738del, NC_000014.9:g.24212733_24212738del, NC_000014.9:g.24212734_24212738del, NC_000014.9:g.24212735_24212738del, NC_000014.9:g.24212736_24212738del, NC_000014.9:g.24212737_24212738del, NC_000014.9:g.24212738del, NC_000014.9:g.24212738dup, NC_000014.9:g.24212737_24212738dup, NC_000014.9:g.24212736_24212738dup, NC_000014.9:g.24212735_24212738dup, NC_000014.9:g.24212734_24212738dup, NC_000014.9:g.24212733_24212738dup, NC_000014.9:g.24212732_24212738dup, NC_000014.9:g.24212729_24212738dup, NG_051059.1:g.24657_24663del, NG_051059.1:g.24658_24663del, NG_051059.1:g.24659_24663del, NG_051059.1:g.24660_24663del, NG_051059.1:g.24661_24663del, NG_051059.1:g.24662_24663del, NG_051059.1:g.24663del, NG_051059.1:g.24663dup, NG_051059.1:g.24662_24663dup, NG_051059.1:g.24661_24663dup, NG_051059.1:g.24660_24663dup, NG_051059.1:g.24659_24663dup, NG_051059.1:g.24658_24663dup, NG_051059.1:g.24657_24663dup, NG_051059.1:g.24654_24663dup, NW_018654722.1:g.513710_513716del, NW_018654722.1:g.513711_513716del, NW_018654722.1:g.513712_513716del, NW_018654722.1:g.513713_513716del, NW_018654722.1:g.513714_513716del, NW_018654722.1:g.513715_513716del, NW_018654722.1:g.513716del, NW_018654722.1:g.513716dup, NW_018654722.1:g.513715_513716dup, NW_018654722.1:g.513714_513716dup, NW_018654722.1:g.513713_513716dup, NW_018654722.1:g.513712_513716dup, NW_018654722.1:g.513711_513716dup, NW_018654722.1:g.513710_513716dup, NW_018654722.1:g.513707_513716dup, NC_000014.8:g.24681938_24681944del, NC_000014.8:g.24681939_24681944del, NC_000014.8:g.24681940_24681944del, NC_000014.8:g.24681941_24681944del, NC_000014.8:g.24681942_24681944del, NC_000014.8:g.24681943_24681944del, NC_000014.8:g.24681944del, NC_000014.8:g.24681944dup, NC_000014.8:g.24681943_24681944dup, NC_000014.8:g.24681942_24681944dup, NC_000014.8:g.24681941_24681944dup, NC_000014.8:g.24681940_24681944dup, NC_000014.8:g.24681939_24681944dup, NC_000014.8:g.24681938_24681944dup, NC_000014.8:g.24681935_24681944dup

Select item 149101325917.

rs1491013259 has merged into rs35302229 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 14:24221296 (GRCh38)
14:24690502 (GRCh37)
Canonical SPDI:: NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:24221287:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: NEDD8 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.163139/817 (1000Genomes)
T=0.175/7 (GENOME_DK)
HGVS:: NC_000014.9:g.24221296_24221302del, NC_000014.9:g.24221297_24221302del, NC_000014.9:g.24221298_24221302del, NC_000014.9:g.24221299_24221302del, NC_000014.9:g.24221300_24221302del, NC_000014.9:g.24221301_24221302del, NC_000014.9:g.24221302del, NC_000014.9:g.24221302dup, NC_000014.9:g.24221301_24221302dup, NC_000014.9:g.24221299_24221302dup, NG_051059.1:g.16092_16098del, NG_051059.1:g.16093_16098del, NG_051059.1:g.16094_16098del, NG_051059.1:g.16095_16098del, NG_051059.1:g.16096_16098del, NG_051059.1:g.16097_16098del, NG_051059.1:g.16098del, NG_051059.1:g.16098dup, NG_051059.1:g.16097_16098dup, NG_051059.1:g.16095_16098dup, NW_018654722.1:g.522274_522280del, NW_018654722.1:g.522275_522280del, NW_018654722.1:g.522276_522280del, NW_018654722.1:g.522277_522280del, NW_018654722.1:g.522278_522280del, NW_018654722.1:g.522279_522280del, NW_018654722.1:g.522280del, NW_018654722.1:g.522280dup, NW_018654722.1:g.522279_522280dup, NW_018654722.1:g.522277_522280dup, NC_000014.8:g.24690502_24690508del, NC_000014.8:g.24690503_24690508del, NC_000014.8:g.24690504_24690508del, NC_000014.8:g.24690505_24690508del, NC_000014.8:g.24690506_24690508del, NC_000014.8:g.24690507_24690508del, NC_000014.8:g.24690508del, NC_000014.8:g.24690508dup, NC_000014.8:g.24690507_24690508dup, NC_000014.8:g.24690505_24690508dup

Select item 149099467518.

rs1490994675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:24216653 (GRCh38)
14:24685859 (GRCh37)
Canonical SPDI:: NC_000014.9:24216652:A:T
Gene:: NEDD8 (Varview), MDP1 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24216653A>T, NG_051059.1:g.20733T>A, NW_018654722.1:g.517631A>T, NC_000014.8:g.24685859A>T

Select item 149093822319.

rs1490938223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:24231486 (GRCh38)
14:24700692 (GRCh37)
Canonical SPDI:: NC_000014.9:24231485:G:A,NC_000014.9:24231485:G:T
Gene:: NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000031/4 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000014.9:g.24231486G>A, NC_000014.9:g.24231486G>T, NG_051059.1:g.5900C>T, NG_051059.1:g.5900C>A, NG_054634.1:g.4070G>A, NG_054634.1:g.4070G>T, NW_018654722.1:g.532464G>A, NW_018654722.1:g.532464G>T, NC_000014.8:g.24700692G>A, NC_000014.8:g.24700692G>T

Select item 149076493820.

rs1490764938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24213056 (GRCh38)
14:24682262 (GRCh37)
Canonical SPDI:: NC_000014.9:24213055:T:C
Gene:: CHMP4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000038/10 (TOPMED)
C=0.00005/7 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.24213056T>C, NG_051059.1:g.24330A>G, NW_018654722.1:g.514034T>C, NC_000014.8:g.24682262T>C

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