SNP Links for Gene (Select 8803) - SNP

Links from Gene

Items: 1 to 20 of 22950

<< First< Prev

Page of 1148

Next >Last >>

Select item 14915840731.

rs1491584073 has merged into rs367747797 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:48036994 (GRCh38)
13:48611130 (GRCh37)
Canonical SPDI:: NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:48036983:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUDT15 (Varview), LOC124903172 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.386/1933 (1000Genomes)
HGVS:: NC_000013.11:g.48036994_48036997del, NC_000013.11:g.48036995_48036997del, NC_000013.11:g.48036996_48036997del, NC_000013.11:g.48036997del, NC_000013.11:g.48036997dup, NC_000013.11:g.48036996_48036997dup, NC_000013.11:g.48036995_48036997dup, NC_000013.11:g.48036994_48036997dup, NC_000013.11:g.48036992_48036997dup, NC_000013.11:g.48036987_48036997dup, NC_000013.10:g.48611130_48611133del, NC_000013.10:g.48611131_48611133del, NC_000013.10:g.48611132_48611133del, NC_000013.10:g.48611133del, NC_000013.10:g.48611133dup, NC_000013.10:g.48611132_48611133dup, NC_000013.10:g.48611131_48611133dup, NC_000013.10:g.48611130_48611133dup, NC_000013.10:g.48611128_48611133dup, NC_000013.10:g.48611123_48611133dup, NG_047021.1:g.4428_4431del, NG_047021.1:g.4429_4431del, NG_047021.1:g.4430_4431del, NG_047021.1:g.4431del, NG_047021.1:g.4431dup, NG_047021.1:g.4430_4431dup, NG_047021.1:g.4429_4431dup, NG_047021.1:g.4428_4431dup, NG_047021.1:g.4426_4431dup, NG_047021.1:g.4421_4431dup

Select item 14915695512.

rs1491569551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACACACACACACACACA [Show Flanks]
Chromosome:: 13:47945641 (GRCh38)
13:48519777 (GRCh37)
Canonical SPDI:: NC_000013.11:47945641:A:ACA,NC_000013.11:47945641:A:ACACACACACACACACACA
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACACACACACACACA=0./0 (ALFA)
ACACACACACACACACAC=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.47945642_47945643insCA, NC_000013.11:g.47945643CA[9], NC_000013.10:g.48519777_48519778insCA, NC_000013.10:g.48519778CA[9], NG_008241.1:g.60686_60687insGT, NG_008241.1:g.60687GT[9]

Select item 14915277033.

rs1491527703 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:47964983 (GRCh38)
13:48539118 (GRCh37)
Canonical SPDI:: NC_000013.11:47964982:TA:
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.47964983_47964984del, NC_000013.10:g.48539118_48539119del, NG_008241.1:g.41344_41345del

Select item 14915157064.

rs1491515706 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATAT,GTGTATAT [Show Flanks]
Chromosome:: 13:48020312 (GRCh38)
13:48594449 (GRCh37)
Canonical SPDI:: NC_000013.11:48020312:TATAT:TATATGTATAT,NC_000013.11:48020312:TATAT:TATATGTGTATAT
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTGTATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.48020313_48020317TA[2]TGTATAT[1], NC_000013.11:g.48020313_48020317TA[2]TG[2]TA[2]T[1], NC_000013.10:g.48594449_48594453TA[2]TGTATAT[1], NC_000013.10:g.48594449_48594453TA[2]TG[2]TA[2]T[1]

Select item 14914704095.

rs1491470409 has merged into rs58573331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:47998301 (GRCh38)
13:48572436 (GRCh37)
Canonical SPDI:: NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47998296:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.2594/152 (NorthernSweden)
AA=0.2712/1358 (1000Genomes)
HGVS:: NC_000013.11:g.47998301_47998313del, NC_000013.11:g.47998302_47998313del, NC_000013.11:g.47998306_47998313del, NC_000013.11:g.47998309_47998313del, NC_000013.11:g.47998310_47998313del, NC_000013.11:g.47998311_47998313del, NC_000013.11:g.47998312_47998313del, NC_000013.11:g.47998313del, NC_000013.11:g.47998313dup, NC_000013.11:g.47998307_47998313dup, NC_000013.11:g.47998302_47998313dup, NC_000013.11:g.47998313_47998314insAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.47998313_47998314insAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.47998313_47998314insAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.47998313_47998314insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.48572436_48572448del, NC_000013.10:g.48572437_48572448del, NC_000013.10:g.48572441_48572448del, NC_000013.10:g.48572444_48572448del, NC_000013.10:g.48572445_48572448del, NC_000013.10:g.48572446_48572448del, NC_000013.10:g.48572447_48572448del, NC_000013.10:g.48572448del, NC_000013.10:g.48572448dup, NC_000013.10:g.48572442_48572448dup, NC_000013.10:g.48572437_48572448dup, NC_000013.10:g.48572448_48572449insAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.48572448_48572449insAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.48572448_48572449insAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.48572448_48572449insAAAAAAAAAAAAAAAAAAAAAAA, NG_008241.1:g.8019_8031del, NG_008241.1:g.8020_8031del, NG_008241.1:g.8024_8031del, NG_008241.1:g.8027_8031del, NG_008241.1:g.8028_8031del, NG_008241.1:g.8029_8031del, NG_008241.1:g.8030_8031del, NG_008241.1:g.8031del, NG_008241.1:g.8031dup, NG_008241.1:g.8025_8031dup, NG_008241.1:g.8020_8031dup, NG_008241.1:g.8031_8032insTTTTTTTTTTTTTTTTTTT, NG_008241.1:g.8031_8032insTTTTTTTTTTTTTTTTTTTT, NG_008241.1:g.8031_8032insTTTTTTTTTTTTTTTTTTTTT, NG_008241.1:g.8031_8032insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914510706.

rs1491451070 has merged into rs3056600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 13:47964995 (GRCh38)
13:48539130 (GRCh37)
Canonical SPDI:: NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:47964983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.0723/362 (1000Genomes)
HGVS:: NC_000013.11:g.47964995_47964999del, NC_000013.11:g.47964996_47964999del, NC_000013.11:g.47964997_47964999del, NC_000013.11:g.47964998_47964999del, NC_000013.11:g.47964999del, NC_000013.11:g.47964999dup, NC_000013.10:g.48539130_48539134del, NC_000013.10:g.48539131_48539134del, NC_000013.10:g.48539132_48539134del, NC_000013.10:g.48539133_48539134del, NC_000013.10:g.48539134del, NC_000013.10:g.48539134dup, NG_008241.1:g.41340_41344del, NG_008241.1:g.41341_41344del, NG_008241.1:g.41342_41344del, NG_008241.1:g.41343_41344del, NG_008241.1:g.41344del, NG_008241.1:g.41344dup

Select item 14914473157.

rs1491447315 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACAC,CACACACACACACAC [Show Flanks]
Chromosome:: 13:47945687 (GRCh38)
13:48519823 (GRCh37)
Canonical SPDI:: NC_000013.11:47945687::C,NC_000013.11:47945687::CAC,NC_000013.11:47945687::CACAC,NC_000013.11:47945687::CACACAC,NC_000013.11:47945687::CACACACAC,NC_000013.11:47945687::CACACACACAC,NC_000013.11:47945687::CACACACACACAC,NC_000013.11:47945687::CACACACACACACAC
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CACAC=0.002/1 (NorthernSweden)
HGVS:: NC_000013.11:g.47945687_47945688insC, NC_000013.11:g.47945687_47945688insCAC, NC_000013.11:g.47945687_47945688insCACAC, NC_000013.11:g.47945687_47945688insCACACAC, NC_000013.11:g.47945687_47945688insCACACACAC, NC_000013.11:g.47945687_47945688insCACACACACAC, NC_000013.11:g.47945687_47945688insCACACACACACAC, NC_000013.11:g.47945687_47945688insCACACACACACACAC, NC_000013.10:g.48519822_48519823insC, NC_000013.10:g.48519822_48519823insCAC, NC_000013.10:g.48519822_48519823insCACAC, NC_000013.10:g.48519822_48519823insCACACAC, NC_000013.10:g.48519822_48519823insCACACACAC, NC_000013.10:g.48519822_48519823insCACACACACAC, NC_000013.10:g.48519822_48519823insCACACACACACAC, NC_000013.10:g.48519822_48519823insCACACACACACACAC, NG_008241.1:g.60640_60641insG, NG_008241.1:g.60640_60641insGTG, NG_008241.1:g.60640_60641insGTGTG, NG_008241.1:g.60640_60641insGTGTGTG, NG_008241.1:g.60640_60641insGTGTGTGTG, NG_008241.1:g.60640_60641insGTGTGTGTGTG, NG_008241.1:g.60640_60641insGTGTGTGTGTGTG, NG_008241.1:g.60640_60641insGTGTGTGTGTGTGTG

Select item 14914465958.

rs1491446595 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:48003847 (GRCh38)
13:48577983 (GRCh37)
Canonical SPDI:: NC_000013.11:48003846:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00021/6 (TOMMO)
HGVS:: NC_000013.11:g.48003847_48003848del, NC_000013.10:g.48577983_48577984del, NG_008241.1:g.2479_2480del

Select item 14914453089.

rs1491445308 has merged into rs35103136 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:47992398 (GRCh38)
13:48566533 (GRCh37)
Canonical SPDI:: NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:47992388:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.0883/442 (1000Genomes)
HGVS:: NC_000013.11:g.47992398_47992410del, NC_000013.11:g.47992401_47992410del, NC_000013.11:g.47992402_47992410del, NC_000013.11:g.47992403_47992410del, NC_000013.11:g.47992404_47992410del, NC_000013.11:g.47992405_47992410del, NC_000013.11:g.47992406_47992410del, NC_000013.11:g.47992407_47992410del, NC_000013.11:g.47992408_47992410del, NC_000013.11:g.47992409_47992410del, NC_000013.11:g.47992410del, NC_000013.11:g.47992410dup, NC_000013.11:g.47992409_47992410dup, NC_000013.11:g.47992408_47992410dup, NC_000013.11:g.47992407_47992410dup, NC_000013.11:g.47992405_47992410dup, NC_000013.11:g.47992404_47992410dup, NC_000013.11:g.47992403_47992410dup, NC_000013.11:g.47992401_47992410dup, NC_000013.11:g.47992400_47992410dup, NC_000013.11:g.47992399_47992410dup, NC_000013.11:g.47992398_47992410dup, NC_000013.11:g.47992397_47992410dup, NC_000013.10:g.48566533_48566545del, NC_000013.10:g.48566536_48566545del, NC_000013.10:g.48566537_48566545del, NC_000013.10:g.48566538_48566545del, NC_000013.10:g.48566539_48566545del, NC_000013.10:g.48566540_48566545del, NC_000013.10:g.48566541_48566545del, NC_000013.10:g.48566542_48566545del, NC_000013.10:g.48566543_48566545del, NC_000013.10:g.48566544_48566545del, NC_000013.10:g.48566545del, NC_000013.10:g.48566545dup, NC_000013.10:g.48566544_48566545dup, NC_000013.10:g.48566543_48566545dup, NC_000013.10:g.48566542_48566545dup, NC_000013.10:g.48566540_48566545dup, NC_000013.10:g.48566539_48566545dup, NC_000013.10:g.48566538_48566545dup, NC_000013.10:g.48566536_48566545dup, NC_000013.10:g.48566535_48566545dup, NC_000013.10:g.48566534_48566545dup, NC_000013.10:g.48566533_48566545dup, NC_000013.10:g.48566532_48566545dup, NG_008241.1:g.13927_13939del, NG_008241.1:g.13930_13939del, NG_008241.1:g.13931_13939del, NG_008241.1:g.13932_13939del, NG_008241.1:g.13933_13939del, NG_008241.1:g.13934_13939del, NG_008241.1:g.13935_13939del, NG_008241.1:g.13936_13939del, NG_008241.1:g.13937_13939del, NG_008241.1:g.13938_13939del, NG_008241.1:g.13939del, NG_008241.1:g.13939dup, NG_008241.1:g.13938_13939dup, NG_008241.1:g.13937_13939dup, NG_008241.1:g.13936_13939dup, NG_008241.1:g.13934_13939dup, NG_008241.1:g.13933_13939dup, NG_008241.1:g.13932_13939dup, NG_008241.1:g.13930_13939dup, NG_008241.1:g.13929_13939dup, NG_008241.1:g.13928_13939dup, NG_008241.1:g.13927_13939dup, NG_008241.1:g.13926_13939dup

Select item 149144063610.

rs1491440636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:47957476 (GRCh38)
13:48531612 (GRCh37)
Canonical SPDI:: NC_000013.11:47957476:T:TT
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.47957477dup, NC_000013.10:g.48531612dup, NG_008241.1:g.48851dup

Select item 149143242011.

rs1491432420 has merged into rs34458960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 13:47947287 (GRCh38)
13:48521422 (GRCh37)
Canonical SPDI:: NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000013.11:47947274:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
HGVS:: NC_000013.11:g.47947275AC[6], NC_000013.11:g.47947275AC[7], NC_000013.11:g.47947275AC[8], NC_000013.11:g.47947275AC[9], NC_000013.11:g.47947275AC[10], NC_000013.11:g.47947275AC[11], NC_000013.11:g.47947275AC[12], NC_000013.11:g.47947275AC[14], NC_000013.11:g.47947275AC[15], NC_000013.11:g.47947275AC[16], NC_000013.11:g.47947275AC[17], NC_000013.11:g.47947275AC[18], NC_000013.10:g.48521410AC[6], NC_000013.10:g.48521410AC[7], NC_000013.10:g.48521410AC[8], NC_000013.10:g.48521410AC[9], NC_000013.10:g.48521410AC[10], NC_000013.10:g.48521410AC[11], NC_000013.10:g.48521410AC[12], NC_000013.10:g.48521410AC[14], NC_000013.10:g.48521410AC[15], NC_000013.10:g.48521410AC[16], NC_000013.10:g.48521410AC[17], NC_000013.10:g.48521410AC[18], NG_008241.1:g.59028GT[6], NG_008241.1:g.59028GT[7], NG_008241.1:g.59028GT[8], NG_008241.1:g.59028GT[9], NG_008241.1:g.59028GT[10], NG_008241.1:g.59028GT[11], NG_008241.1:g.59028GT[12], NG_008241.1:g.59028GT[14], NG_008241.1:g.59028GT[15], NG_008241.1:g.59028GT[16], NG_008241.1:g.59028GT[17], NG_008241.1:g.59028GT[18]

Select item 149141217912.

rs1491412179 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:48036984 (GRCh38)
13:48611121 (GRCh37)
Canonical SPDI:: NC_000013.11:48036984::T
Gene:: NUDT15 (Varview), LOC124903172 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48036984_48036985insT, NC_000013.10:g.48611120_48611121insT, NG_047021.1:g.4418_4419insT

Select item 149135951813.

rs1491359518 has merged into rs11314143 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 13:47942344 (GRCh38)
13:48516479 (GRCh37)
Canonical SPDI:: NC_000013.11:47942335:AAAAAAAAAA:AAAAAAAA,NC_000013.11:47942335:AAAAAAAAAA:AAAAAAAAA,NC_000013.11:47942335:AAAAAAAAAA:AAAAAAAAAAA
Gene:: SUCLA2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.2729/500 (Korea1K)
A=0.3045/1950 (1000Genomes)
HGVS:: NC_000013.11:g.47942344_47942345del, NC_000013.11:g.47942345del, NC_000013.11:g.47942345dup, NC_000013.10:g.48516479_48516480del, NC_000013.10:g.48516480del, NC_000013.10:g.48516480dup, NG_008241.1:g.63991_63992del, NG_008241.1:g.63992del, NG_008241.1:g.63992dup

Select item 149135098514.

rs1491350985 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:48034478 (GRCh38)
13:48608614 (GRCh37)
Canonical SPDI:: NC_000013.11:48034477:CA:
Gene:: LOC124903172 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.48034478_48034479del, NC_000013.10:g.48608614_48608615del, NG_047021.1:g.1912_1913del

Select item 149133823215.

rs1491338232 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:47968745 (GRCh38)
13:48542880 (GRCh37)
Canonical SPDI:: NC_000013.11:47968742:ATAT:AT
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00054/10 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/9 (GnomAD_exomes)
-=0.000043/5 (ExAC)
-=0.000071/1 (TOMMO)
-=0.000078/11 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.002232/10 (Estonian)
HGVS:: NC_000013.11:g.47968743AT[1], NC_000013.10:g.48542878AT[1], NG_008241.1:g.37582AT[1]

Select item 149132135016.

rs1491321350 has merged into rs71099660 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 13:48020321 (GRCh38)
13:48594457 (GRCh37)
Canonical SPDI:: NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000013.11:48020311:ATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.48020313TA[4], NC_000013.11:g.48020313TA[5], NC_000013.11:g.48020313TA[6], NC_000013.11:g.48020313TA[7], NC_000013.11:g.48020313TA[8], NC_000013.11:g.48020313TA[9], NC_000013.11:g.48020313TA[10], NC_000013.11:g.48020313TA[11], NC_000013.11:g.48020313TA[12], NC_000013.11:g.48020313TA[13], NC_000013.11:g.48020313TA[14], NC_000013.11:g.48020313TA[15], NC_000013.11:g.48020313TA[16], NC_000013.11:g.48020313TA[17], NC_000013.11:g.48020313TA[18], NC_000013.11:g.48020313TA[19], NC_000013.11:g.48020313TA[21], NC_000013.11:g.48020313TA[22], NC_000013.11:g.48020313TA[23], NC_000013.11:g.48020313TA[24], NC_000013.11:g.48020313TA[25], NC_000013.11:g.48020313TA[26], NC_000013.11:g.48020313TA[27], NC_000013.11:g.48020313TA[28], NC_000013.11:g.48020313TA[29], NC_000013.11:g.48020313TA[30], NC_000013.11:g.48020313TA[31], NC_000013.11:g.48020313TA[32], NC_000013.10:g.48594449TA[4], NC_000013.10:g.48594449TA[5], NC_000013.10:g.48594449TA[6], NC_000013.10:g.48594449TA[7], NC_000013.10:g.48594449TA[8], NC_000013.10:g.48594449TA[9], NC_000013.10:g.48594449TA[10], NC_000013.10:g.48594449TA[11], NC_000013.10:g.48594449TA[12], NC_000013.10:g.48594449TA[13], NC_000013.10:g.48594449TA[14], NC_000013.10:g.48594449TA[15], NC_000013.10:g.48594449TA[16], NC_000013.10:g.48594449TA[17], NC_000013.10:g.48594449TA[18], NC_000013.10:g.48594449TA[19], NC_000013.10:g.48594449TA[21], NC_000013.10:g.48594449TA[22], NC_000013.10:g.48594449TA[23], NC_000013.10:g.48594449TA[24], NC_000013.10:g.48594449TA[25], NC_000013.10:g.48594449TA[26], NC_000013.10:g.48594449TA[27], NC_000013.10:g.48594449TA[28], NC_000013.10:g.48594449TA[29], NC_000013.10:g.48594449TA[30], NC_000013.10:g.48594449TA[31], NC_000013.10:g.48594449TA[32]

Select item 149131740417.

rs1491317404 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:47942335 (GRCh38)
13:48516470 (GRCh37)
Canonical SPDI:: NC_000013.11:47942334:CA:
Gene:: SUCLA2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000013.11:g.47942335_47942336del, NC_000013.10:g.48516470_48516471del, NG_008241.1:g.63992_63993del

Select item 149129552618.

rs1491295526 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:47998296 (GRCh38)
13:48572431 (GRCh37)
Canonical SPDI:: NC_000013.11:47998295:TA:
Gene:: SUCLA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.47998296_47998297del, NC_000013.10:g.48572431_48572432del, NG_008241.1:g.8031_8032del

Select item 149129050119.

rs1491290501 [Homo sapiens]

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

Select item 149126405720.

rs1491264057 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:48026884 (GRCh38)
13:48601020 (GRCh37)
Canonical SPDI:: NC_000013.11:48026883:CA:
Gene:: LOC124903172 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.48026884_48026885del, NC_000013.10:g.48601020_48601021del

<< First< Prev

Page of 1148

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 22950

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity