SNP Links for Gene (Select 440584) - SNP

Links from Gene

Items: 1 to 20 of 5893

<< First< Prev

Page of 295

Next >Last >>

Select item 14914937031.

rs1491493703 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:42976428 (GRCh38)
1:43442099 (GRCh37)
Canonical SPDI:: NC_000001.11:42976427:CA:
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.42976428_42976429del, NC_000001.10:g.43442099_43442100del

Select item 14914282832.

rs1491428283 has merged into rs35595185 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42971760 (GRCh38)
1:43437431 (GRCh37)
Canonical SPDI:: NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42971752:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.075/3 (GENOME_DK)
-=0.406949/2038 (1000Genomes)
HGVS:: NC_000001.11:g.42971760_42971772del, NC_000001.11:g.42971761_42971772del, NC_000001.11:g.42971762_42971772del, NC_000001.11:g.42971764_42971772del, NC_000001.11:g.42971765_42971772del, NC_000001.11:g.42971766_42971772del, NC_000001.11:g.42971767_42971772del, NC_000001.11:g.42971768_42971772del, NC_000001.11:g.42971769_42971772del, NC_000001.11:g.42971770_42971772del, NC_000001.11:g.42971771_42971772del, NC_000001.11:g.42971772del, NC_000001.11:g.42971772dup, NC_000001.11:g.42971771_42971772dup, NC_000001.11:g.42971770_42971772dup, NC_000001.11:g.42971769_42971772dup, NC_000001.11:g.42971768_42971772dup, NC_000001.11:g.42971766_42971772dup, NC_000001.11:g.42971764_42971772dup, NC_000001.11:g.42971763_42971772dup, NC_000001.11:g.42971762_42971772dup, NC_000001.11:g.42971761_42971772dup, NC_000001.11:g.42971760_42971772dup, NC_000001.11:g.42971758_42971772dup, NC_000001.11:g.42971756_42971772dup, NC_000001.11:g.42971754_42971772dup, NC_000001.11:g.42971772_42971773insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.42971772_42971773insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.43437431_43437443del, NC_000001.10:g.43437432_43437443del, NC_000001.10:g.43437433_43437443del, NC_000001.10:g.43437435_43437443del, NC_000001.10:g.43437436_43437443del, NC_000001.10:g.43437437_43437443del, NC_000001.10:g.43437438_43437443del, NC_000001.10:g.43437439_43437443del, NC_000001.10:g.43437440_43437443del, NC_000001.10:g.43437441_43437443del, NC_000001.10:g.43437442_43437443del, NC_000001.10:g.43437443del, NC_000001.10:g.43437443dup, NC_000001.10:g.43437442_43437443dup, NC_000001.10:g.43437441_43437443dup, NC_000001.10:g.43437440_43437443dup, NC_000001.10:g.43437439_43437443dup, NC_000001.10:g.43437437_43437443dup, NC_000001.10:g.43437435_43437443dup, NC_000001.10:g.43437434_43437443dup, NC_000001.10:g.43437433_43437443dup, NC_000001.10:g.43437432_43437443dup, NC_000001.10:g.43437431_43437443dup, NC_000001.10:g.43437429_43437443dup, NC_000001.10:g.43437427_43437443dup, NC_000001.10:g.43437425_43437443dup, NC_000001.10:g.43437443_43437444insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.43437443_43437444insAAAAAAAAAAAAAAAAAAAAAA

Select item 14912079153.

rs1491207915 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:42971585 (GRCh38)
1:43437257 (GRCh37)
Canonical SPDI:: NC_000001.11:42971585::C
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.42971585_42971586insC, NC_000001.10:g.43437256_43437257insC

Select item 14911661544.

rs1491166154 has merged into rs60493694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:42972360 (GRCh38)
1:43438031 (GRCh37)
Canonical SPDI:: NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:42972346:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0003/2 (ALFA)
-=0.2841/1095 (ALSPAC)
HGVS:: NC_000001.11:g.42972360_42972363del, NC_000001.11:g.42972361_42972363del, NC_000001.11:g.42972362_42972363del, NC_000001.11:g.42972363del, NC_000001.11:g.42972363dup, NC_000001.11:g.42972362_42972363dup, NC_000001.11:g.42972354_42972363dup, NC_000001.10:g.43438031_43438034del, NC_000001.10:g.43438032_43438034del, NC_000001.10:g.43438033_43438034del, NC_000001.10:g.43438034del, NC_000001.10:g.43438034dup, NC_000001.10:g.43438033_43438034dup, NC_000001.10:g.43438025_43438034dup

Select item 14911261695.

rs1491126169 has merged into rs58041100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42976438 (GRCh38)
1:43442109 (GRCh37)
Canonical SPDI:: NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42976428:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.42976438_42976455del, NC_000001.11:g.42976439_42976455del, NC_000001.11:g.42976440_42976455del, NC_000001.11:g.42976441_42976455del, NC_000001.11:g.42976442_42976455del, NC_000001.11:g.42976443_42976455del, NC_000001.11:g.42976444_42976455del, NC_000001.11:g.42976445_42976455del, NC_000001.11:g.42976446_42976455del, NC_000001.11:g.42976447_42976455del, NC_000001.11:g.42976448_42976455del, NC_000001.11:g.42976449_42976455del, NC_000001.11:g.42976450_42976455del, NC_000001.11:g.42976451_42976455del, NC_000001.11:g.42976452_42976455del, NC_000001.11:g.42976453_42976455del, NC_000001.11:g.42976454_42976455del, NC_000001.11:g.42976455del, NC_000001.11:g.42976455dup, NC_000001.11:g.42976454_42976455dup, NC_000001.11:g.42976453_42976455dup, NC_000001.11:g.42976452_42976455dup, NC_000001.11:g.42976451_42976455dup, NC_000001.11:g.42976450_42976455dup, NC_000001.11:g.42976449_42976455dup, NC_000001.11:g.42976448_42976455dup, NC_000001.11:g.42976447_42976455dup, NC_000001.11:g.42976446_42976455dup, NC_000001.11:g.42976445_42976455dup, NC_000001.11:g.42976444_42976455dup, NC_000001.11:g.42976443_42976455dup, NC_000001.11:g.42976442_42976455dup, NC_000001.11:g.42976441_42976455dup, NC_000001.11:g.42976440_42976455dup, NC_000001.11:g.42976439_42976455dup, NC_000001.10:g.43442109_43442126del, NC_000001.10:g.43442110_43442126del, NC_000001.10:g.43442111_43442126del, NC_000001.10:g.43442112_43442126del, NC_000001.10:g.43442113_43442126del, NC_000001.10:g.43442114_43442126del, NC_000001.10:g.43442115_43442126del, NC_000001.10:g.43442116_43442126del, NC_000001.10:g.43442117_43442126del, NC_000001.10:g.43442118_43442126del, NC_000001.10:g.43442119_43442126del, NC_000001.10:g.43442120_43442126del, NC_000001.10:g.43442121_43442126del, NC_000001.10:g.43442122_43442126del, NC_000001.10:g.43442123_43442126del, NC_000001.10:g.43442124_43442126del, NC_000001.10:g.43442125_43442126del, NC_000001.10:g.43442126del, NC_000001.10:g.43442126dup, NC_000001.10:g.43442125_43442126dup, NC_000001.10:g.43442124_43442126dup, NC_000001.10:g.43442123_43442126dup, NC_000001.10:g.43442122_43442126dup, NC_000001.10:g.43442121_43442126dup, NC_000001.10:g.43442120_43442126dup, NC_000001.10:g.43442119_43442126dup, NC_000001.10:g.43442118_43442126dup, NC_000001.10:g.43442117_43442126dup, NC_000001.10:g.43442116_43442126dup, NC_000001.10:g.43442115_43442126dup, NC_000001.10:g.43442114_43442126dup, NC_000001.10:g.43442113_43442126dup, NC_000001.10:g.43442112_43442126dup, NC_000001.10:g.43442111_43442126dup, NC_000001.10:g.43442110_43442126dup

Select item 14910130046.

rs1491013004 has merged into rs34291853 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:42979480 (GRCh38)
1:43445151 (GRCh37)
Canonical SPDI:: NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42979468:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0599/231 (ALSPAC)
-=0.0663/246 (TWINSUK)
HGVS:: NC_000001.11:g.42979480_42979495del, NC_000001.11:g.42979481_42979495del, NC_000001.11:g.42979482_42979495del, NC_000001.11:g.42979483_42979495del, NC_000001.11:g.42979484_42979495del, NC_000001.11:g.42979485_42979495del, NC_000001.11:g.42979486_42979495del, NC_000001.11:g.42979487_42979495del, NC_000001.11:g.42979488_42979495del, NC_000001.11:g.42979491_42979495del, NC_000001.11:g.42979492_42979495del, NC_000001.11:g.42979493_42979495del, NC_000001.11:g.42979494_42979495del, NC_000001.11:g.42979495del, NC_000001.11:g.42979495dup, NC_000001.11:g.42979494_42979495dup, NC_000001.11:g.42979493_42979495dup, NC_000001.11:g.42979492_42979495dup, NC_000001.11:g.42979491_42979495dup, NC_000001.11:g.42979490_42979495dup, NC_000001.11:g.42979489_42979495dup, NC_000001.11:g.42979488_42979495dup, NC_000001.11:g.42979484_42979495dup, NC_000001.10:g.43445151_43445166del, NC_000001.10:g.43445152_43445166del, NC_000001.10:g.43445153_43445166del, NC_000001.10:g.43445154_43445166del, NC_000001.10:g.43445155_43445166del, NC_000001.10:g.43445156_43445166del, NC_000001.10:g.43445157_43445166del, NC_000001.10:g.43445158_43445166del, NC_000001.10:g.43445159_43445166del, NC_000001.10:g.43445162_43445166del, NC_000001.10:g.43445163_43445166del, NC_000001.10:g.43445164_43445166del, NC_000001.10:g.43445165_43445166del, NC_000001.10:g.43445166del, NC_000001.10:g.43445166dup, NC_000001.10:g.43445165_43445166dup, NC_000001.10:g.43445164_43445166dup, NC_000001.10:g.43445163_43445166dup, NC_000001.10:g.43445162_43445166dup, NC_000001.10:g.43445161_43445166dup, NC_000001.10:g.43445160_43445166dup, NC_000001.10:g.43445159_43445166dup, NC_000001.10:g.43445155_43445166dup

Select item 14909765887.

rs1490976588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42979109 (GRCh38)
1:43444780 (GRCh37)
Canonical SPDI:: NC_000001.11:42979108:G:A
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42979109G>A, NC_000001.10:g.43444780G>A

Select item 14909762968.

rs1490976296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42964214 (GRCh38)
1:43429885 (GRCh37)
Canonical SPDI:: NC_000001.11:42964213:T:A
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42964214T>A, NC_000001.10:g.43429885T>A

Select item 14907022789.

rs1490702278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42971708 (GRCh38)
1:43437379 (GRCh37)
Canonical SPDI:: NC_000001.11:42971707:G:A
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/6 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.42971708G>A, NC_000001.10:g.43437379G>A

Select item 149067659210.

rs1490676592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42973075 (GRCh38)
1:43438746 (GRCh37)
Canonical SPDI:: NC_000001.11:42973074:A:C
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42973075A>C, NC_000001.10:g.43438746A>C

Select item 149056208111.

rs1490562081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42958264 (GRCh38)
1:43423935 (GRCh37)
Canonical SPDI:: NC_000001.11:42958263:A:C
Gene:: SLC2A1 (Varview), SLC2A1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42958264A>C, NC_000001.10:g.43423935A>C, NG_008232.1:g.5913T>G

Select item 149052684112.

rs1490526841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42958883 (GRCh38)
1:43424554 (GRCh37)
Canonical SPDI:: NC_000001.11:42958882:G:A
Gene:: SLC2A1 (Varview), SLC2A1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42958883G>A, NC_000001.10:g.43424554G>A, NG_008232.1:g.5294C>T, NM_006516.2:c.-232C>T

Select item 149048685013.

rs1490486850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42980220 (GRCh38)
1:43445891 (GRCh37)
Canonical SPDI:: NC_000001.11:42980219:A:G
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.42980220A>G, NC_000001.10:g.43445891A>G

Select item 149041961014.

rs1490419610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42966124 (GRCh38)
1:43431795 (GRCh37)
Canonical SPDI:: NC_000001.11:42966123:T:A
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42966124T>A, NC_000001.10:g.43431795T>A

Select item 149023257415.

rs1490232574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:42957605 (GRCh38)
1:43423276 (GRCh37)
Canonical SPDI:: NC_000001.11:42957604:G:A,NC_000001.11:42957604:G:T
Gene:: SLC2A1 (Varview), SLC2A1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.42957605G>A, NC_000001.11:g.42957605G>T, NC_000001.10:g.43423276G>A, NC_000001.10:g.43423276G>T, NG_008232.1:g.6572C>T, NG_008232.1:g.6572C>A

Select item 149021060616.

rs1490210606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42971381 (GRCh38)
1:43437052 (GRCh37)
Canonical SPDI:: NC_000001.11:42971380:A:G
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42971381A>G, NC_000001.10:g.43437052A>G

Select item 149015927417.

rs1490159274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:42978141 (GRCh38)
1:43443812 (GRCh37)
Canonical SPDI:: NC_000001.11:42978140:G:A,NC_000001.11:42978140:G:C
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.42978141G>A, NC_000001.11:g.42978141G>C, NC_000001.10:g.43443812G>A, NC_000001.10:g.43443812G>C

Select item 149001503918.

rs1490015039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:42959058 (GRCh38)
1:43424729 (GRCh37)
Canonical SPDI:: NC_000001.11:42959057:A:G,NC_000001.11:42959057:A:T
Gene:: SLC2A1 (Varview), SLC2A1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.42959058A>G, NC_000001.11:g.42959058A>T, NC_000001.10:g.43424729A>G, NC_000001.10:g.43424729A>T, NG_008232.1:g.5119T>C, NG_008232.1:g.5119T>A, NM_006516.2:c.-407T>C, NM_006516.2:c.-407T>A, NR_033967.1:n.10A>G, NR_033967.1:n.10A>T

Select item 148983090919.

rs1489830909 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:42963776 (GRCh38)
1:43429447 (GRCh37)
Canonical SPDI:: NC_000001.11:42963775:AT:
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42963776_42963777del, NC_000001.10:g.43429447_43429448del, NG_008232.1:g.400_401del

Select item 148976573720.

rs1489765737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42964582 (GRCh38)
1:43430253 (GRCh37)
Canonical SPDI:: NC_000001.11:42964581:C:T
Gene:: SLC2A1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.42964582C>T, NC_000001.10:g.43430253C>T

<< First< Prev

Page of 295

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 5893

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity