SNP Links for Gene (Select 256471) - SNP

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Select item 14915307081.

rs1491530708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 4:127940517 (GRCh38)
4:128861673 (GRCh37)
Canonical SPDI:: NC_000004.12:127940517:ATA:ATACATA
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACATA=0./0 (ALFA)
ATAC=0.000004/1 (TOPMED)
ATAC=0.000054/1 (GnomAD)
HGVS:: NC_000004.12:g.127940520_127940521insCATA, NC_000004.11:g.128861675_128861676insCATA, NG_008657.1:g.30467_30468insGTAT

Select item 14915116532.

rs1491511653 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:127955539 (GRCh38)
4:128876694 (GRCh37)
Canonical SPDI:: NC_000004.12:127955538:CA:
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.127955539_127955540del, NC_000004.11:g.128876694_128876695del, NG_008657.1:g.15445_15446del

Select item 14914897273.

rs1491489727 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:127939604 (GRCh38)
4:128860759 (GRCh37)
Canonical SPDI:: NC_000004.12:127939603:CA:
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00068/19 (TOMMO)
HGVS:: NC_000004.12:g.127939604_127939605del, NC_000004.11:g.128860759_128860760del, NG_008657.1:g.31380_31381del

Select item 14914779024.

rs1491477902 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAA,CAAAAAAAAA [Show Flanks]
Chromosome:: 4:127939604 (GRCh38)
4:128860760 (GRCh37)
Canonical SPDI:: NC_000004.12:127939604::CA,NC_000004.12:127939604::CAA,NC_000004.12:127939604::CAAAAAAAAA
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.00008/1 (ALFA)
CA=0.00048/13 (TOMMO)
HGVS:: NC_000004.12:g.127939604_127939605insCA, NC_000004.12:g.127939604_127939605insCAA, NC_000004.12:g.127939604_127939605insCAAAAAAAAA, NC_000004.11:g.128860759_128860760insCA, NC_000004.11:g.128860759_128860760insCAA, NC_000004.11:g.128860759_128860760insCAAAAAAAAA, NG_008657.1:g.31380_31381insTG, NG_008657.1:g.31380_31381insTTG, NG_008657.1:g.31380_31381insTTTTTTTTTG

Select item 14914043675.

rs1491404367 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:127926016 (GRCh38)
4:128847172 (GRCh37)
Canonical SPDI:: NC_000004.12:127926016:T:TT
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.127926017dup, NC_000004.11:g.128847172dup, NG_008657.1:g.44968dup

Select item 14913871186.

rs1491387118 has merged into rs758640018 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:127952882 (GRCh38)
4:128874037 (GRCh37)
Canonical SPDI:: NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127952869:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.28947/11 (GENOME_DK)
HGVS:: NC_000004.12:g.127952882_127952891del, NC_000004.12:g.127952885_127952891del, NC_000004.12:g.127952887_127952891del, NC_000004.12:g.127952888_127952891del, NC_000004.12:g.127952889_127952891del, NC_000004.12:g.127952890_127952891del, NC_000004.12:g.127952891del, NC_000004.12:g.127952891dup, NC_000004.12:g.127952890_127952891dup, NC_000004.12:g.127952889_127952891dup, NC_000004.12:g.127952886_127952891dup, NC_000004.12:g.127952885_127952891dup, NC_000004.12:g.127952884_127952891dup, NC_000004.11:g.128874037_128874046del, NC_000004.11:g.128874040_128874046del, NC_000004.11:g.128874042_128874046del, NC_000004.11:g.128874043_128874046del, NC_000004.11:g.128874044_128874046del, NC_000004.11:g.128874045_128874046del, NC_000004.11:g.128874046del, NC_000004.11:g.128874046dup, NC_000004.11:g.128874045_128874046dup, NC_000004.11:g.128874044_128874046dup, NC_000004.11:g.128874041_128874046dup, NC_000004.11:g.128874040_128874046dup, NC_000004.11:g.128874039_128874046dup, NG_008657.1:g.18106_18115del, NG_008657.1:g.18109_18115del, NG_008657.1:g.18111_18115del, NG_008657.1:g.18112_18115del, NG_008657.1:g.18113_18115del, NG_008657.1:g.18114_18115del, NG_008657.1:g.18115del, NG_008657.1:g.18115dup, NG_008657.1:g.18114_18115dup, NG_008657.1:g.18113_18115dup, NG_008657.1:g.18110_18115dup, NG_008657.1:g.18109_18115dup, NG_008657.1:g.18108_18115dup

Select item 14913121067.

rs1491312106 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 4:127958547 (GRCh38)
4:128879703 (GRCh37)
Canonical SPDI:: NC_000004.12:127958547:TATTA:TATTATTA
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTATTA=0./0 (ALFA)
TAT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.127958550_127958552dup, NC_000004.11:g.128879705_128879707dup, NG_008657.1:g.12435_12437dup

Select item 14912959718.

rs1491295971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:127952869 (GRCh38)
4:128874024 (GRCh37)
Canonical SPDI:: NC_000004.12:127952868:CA:
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.127952869_127952870del, NC_000004.11:g.128874024_128874025del, NG_008657.1:g.18115_18116del

Select item 14912347819.

rs1491234781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:127926017 (GRCh38)
4:128847172 (GRCh37)
Canonical SPDI:: NC_000004.12:127926015:ATA:A
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.127926017_127926018del, NC_000004.11:g.128847172_128847173del, NG_008657.1:g.44968_44969del

Select item 149120590610.

rs1491205906 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:127958549 (GRCh38)
4:128879704 (GRCh37)
Canonical SPDI:: NC_000004.12:127958546:ATAT:AT
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.127958547AT[1], NC_000004.11:g.128879702AT[1], NG_008657.1:g.12435AT[1]

Select item 149116324511.

rs1491163245 has merged into rs70966065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:127966712 (GRCh38)
4:128887867 (GRCh37)
Canonical SPDI:: NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:127966702:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABHD18 (Varview), MFSD8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAA=0.0034/2 (NorthernSweden)
HGVS:: NC_000004.12:g.127966712_127966738del, NC_000004.12:g.127966713_127966738del, NC_000004.12:g.127966715_127966738del, NC_000004.12:g.127966716_127966738del, NC_000004.12:g.127966717_127966738del, NC_000004.12:g.127966718_127966738del, NC_000004.12:g.127966719_127966738del, NC_000004.12:g.127966720_127966738del, NC_000004.12:g.127966721_127966738del, NC_000004.12:g.127966722_127966738del, NC_000004.12:g.127966723_127966738del, NC_000004.12:g.127966724_127966738del, NC_000004.12:g.127966725_127966738del, NC_000004.12:g.127966726_127966738del, NC_000004.12:g.127966727_127966738del, NC_000004.12:g.127966728_127966738del, NC_000004.12:g.127966729_127966738del, NC_000004.12:g.127966730_127966738del, NC_000004.12:g.127966731_127966738del, NC_000004.12:g.127966732_127966738del, NC_000004.12:g.127966733_127966738del, NC_000004.12:g.127966734_127966738del, NC_000004.12:g.127966735_127966738del, NC_000004.12:g.127966736_127966738del, NC_000004.12:g.127966737_127966738del, NC_000004.12:g.127966738del, NC_000004.12:g.127966738dup, NC_000004.12:g.127966737_127966738dup, NC_000004.12:g.127966736_127966738dup, NC_000004.12:g.127966735_127966738dup, NC_000004.12:g.127966734_127966738dup, NC_000004.12:g.127966733_127966738dup, NC_000004.12:g.127966732_127966738dup, NC_000004.12:g.127966731_127966738dup, NC_000004.12:g.127966730_127966738dup, NC_000004.12:g.127966729_127966738dup, NC_000004.12:g.127966728_127966738dup, NC_000004.12:g.127966727_127966738dup, NC_000004.12:g.127966726_127966738dup, NC_000004.12:g.127966725_127966738dup, NC_000004.12:g.127966724_127966738dup, NC_000004.12:g.127966723_127966738dup, NC_000004.12:g.127966722_127966738dup, NC_000004.12:g.127966720_127966738dup, NC_000004.12:g.127966719_127966738dup, NC_000004.12:g.127966718_127966738dup, NC_000004.12:g.127966717_127966738dup, NC_000004.12:g.127966716_127966738dup, NC_000004.12:g.127966715_127966738dup, NC_000004.12:g.127966713_127966738dup, NC_000004.12:g.127966712_127966738dup, NC_000004.12:g.127966711_127966738dup, NC_000004.12:g.127966708_127966738dup, NC_000004.11:g.128887867_128887893del, NC_000004.11:g.128887868_128887893del, NC_000004.11:g.128887870_128887893del, NC_000004.11:g.128887871_128887893del, NC_000004.11:g.128887872_128887893del, NC_000004.11:g.128887873_128887893del, NC_000004.11:g.128887874_128887893del, NC_000004.11:g.128887875_128887893del, NC_000004.11:g.128887876_128887893del, NC_000004.11:g.128887877_128887893del, NC_000004.11:g.128887878_128887893del, NC_000004.11:g.128887879_128887893del, NC_000004.11:g.128887880_128887893del, NC_000004.11:g.128887881_128887893del, NC_000004.11:g.128887882_128887893del, NC_000004.11:g.128887883_128887893del, NC_000004.11:g.128887884_128887893del, NC_000004.11:g.128887885_128887893del, NC_000004.11:g.128887886_128887893del, NC_000004.11:g.128887887_128887893del, NC_000004.11:g.128887888_128887893del, NC_000004.11:g.128887889_128887893del, NC_000004.11:g.128887890_128887893del, NC_000004.11:g.128887891_128887893del, NC_000004.11:g.128887892_128887893del, NC_000004.11:g.128887893del, NC_000004.11:g.128887893dup, NC_000004.11:g.128887892_128887893dup, NC_000004.11:g.128887891_128887893dup, NC_000004.11:g.128887890_128887893dup, NC_000004.11:g.128887889_128887893dup, NC_000004.11:g.128887888_128887893dup, NC_000004.11:g.128887887_128887893dup, NC_000004.11:g.128887886_128887893dup, NC_000004.11:g.128887885_128887893dup, NC_000004.11:g.128887884_128887893dup, NC_000004.11:g.128887883_128887893dup, NC_000004.11:g.128887882_128887893dup, NC_000004.11:g.128887881_128887893dup, NC_000004.11:g.128887880_128887893dup, NC_000004.11:g.128887879_128887893dup, NC_000004.11:g.128887878_128887893dup, NC_000004.11:g.128887877_128887893dup, NC_000004.11:g.128887875_128887893dup, NC_000004.11:g.128887874_128887893dup, NC_000004.11:g.128887873_128887893dup, NC_000004.11:g.128887872_128887893dup, NC_000004.11:g.128887871_128887893dup, NC_000004.11:g.128887870_128887893dup, NC_000004.11:g.128887868_128887893dup, NC_000004.11:g.128887867_128887893dup, NC_000004.11:g.128887866_128887893dup, NC_000004.11:g.128887863_128887893dup, NG_008657.1:g.4256_4282del, NG_008657.1:g.4257_4282del, NG_008657.1:g.4259_4282del, NG_008657.1:g.4260_4282del, NG_008657.1:g.4261_4282del, NG_008657.1:g.4262_4282del, NG_008657.1:g.4263_4282del, NG_008657.1:g.4264_4282del, NG_008657.1:g.4265_4282del, NG_008657.1:g.4266_4282del, NG_008657.1:g.4267_4282del, NG_008657.1:g.4268_4282del, NG_008657.1:g.4269_4282del, NG_008657.1:g.4270_4282del, NG_008657.1:g.4271_4282del, NG_008657.1:g.4272_4282del, NG_008657.1:g.4273_4282del, NG_008657.1:g.4274_4282del, NG_008657.1:g.4275_4282del, NG_008657.1:g.4276_4282del, NG_008657.1:g.4277_4282del, NG_008657.1:g.4278_4282del, NG_008657.1:g.4279_4282del, NG_008657.1:g.4280_4282del, NG_008657.1:g.4281_4282del, NG_008657.1:g.4282del, NG_008657.1:g.4282dup, NG_008657.1:g.4281_4282dup, NG_008657.1:g.4280_4282dup, NG_008657.1:g.4279_4282dup, NG_008657.1:g.4278_4282dup, NG_008657.1:g.4277_4282dup, NG_008657.1:g.4276_4282dup, NG_008657.1:g.4275_4282dup, NG_008657.1:g.4274_4282dup, NG_008657.1:g.4273_4282dup, NG_008657.1:g.4272_4282dup, NG_008657.1:g.4271_4282dup, NG_008657.1:g.4270_4282dup, NG_008657.1:g.4269_4282dup, NG_008657.1:g.4268_4282dup, NG_008657.1:g.4267_4282dup, NG_008657.1:g.4266_4282dup, NG_008657.1:g.4264_4282dup, NG_008657.1:g.4263_4282dup, NG_008657.1:g.4262_4282dup, NG_008657.1:g.4261_4282dup, NG_008657.1:g.4260_4282dup, NG_008657.1:g.4259_4282dup, NG_008657.1:g.4257_4282dup, NG_008657.1:g.4256_4282dup, NG_008657.1:g.4255_4282dup, NG_008657.1:g.4252_4282dup

Select item 149115749812.

rs1491157498 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC [Show Flanks]
Chromosome:: 4:127966703 (GRCh38)
4:128887859 (GRCh37)
Canonical SPDI:: NC_000004.12:127966703::C,NC_000004.12:127966703::CAC
Gene:: ABHD18 (Varview), MFSD8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.127966703_127966704insC, NC_000004.12:g.127966703_127966704insCAC, NC_000004.11:g.128887858_128887859insC, NC_000004.11:g.128887858_128887859insCAC, NG_008657.1:g.4281_4282insG, NG_008657.1:g.4281_4282insGTG

Select item 149108851313.

rs1491088513 has merged into rs1553949829 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 4:127940548 (GRCh38)
4:128861703 (GRCh37)
Canonical SPDI:: NC_000004.12:127940538:TGTGTGTGTGTGT:TGTGTGTGT,NC_000004.12:127940538:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:127940538:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:127940538:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TGTG=0.00167/1 (NorthernSweden)
HGVS:: NC_000004.12:g.127940540GT[4], NC_000004.12:g.127940540GT[5], NC_000004.12:g.127940540GT[7], NC_000004.12:g.127940540GT[8], NC_000004.11:g.128861695GT[4], NC_000004.11:g.128861695GT[5], NC_000004.11:g.128861695GT[7], NC_000004.11:g.128861695GT[8], NG_008657.1:g.30435CA[4], NG_008657.1:g.30435CA[5], NG_008657.1:g.30435CA[7], NG_008657.1:g.30435CA[8]

Select item 149108707414.

rs1491087074 has merged into rs70966062 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC,TCTCTC,TCTCTCTC,TCTCTCTCTC [Show Flanks]
Chromosome:: 4:127947904 (GRCh38)
4:128869059 (GRCh37)
Canonical SPDI:: NC_000004.12:127947898:CTCTCTCTC:CTCTC,NC_000004.12:127947898:CTCTCTCTC:CTCTCTC,NC_000004.12:127947898:CTCTCTCTC:CTCTCTCTCTC,NC_000004.12:127947898:CTCTCTCTC:CTCTCTCTCTCTC,NC_000004.12:127947898:CTCTCTCTC:CTCTCTCTCTCTCTC
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTC=0./0 (ALFA)
-=0.00949/159 (TOMMO)
HGVS:: NC_000004.12:g.127947900TC[2], NC_000004.12:g.127947900TC[3], NC_000004.12:g.127947900TC[5], NC_000004.12:g.127947900TC[6], NC_000004.12:g.127947900TC[7], NC_000004.11:g.128869055TC[2], NC_000004.11:g.128869055TC[3], NC_000004.11:g.128869055TC[5], NC_000004.11:g.128869055TC[6], NC_000004.11:g.128869055TC[7], NG_008657.1:g.23079AG[2], NG_008657.1:g.23079AG[3], NG_008657.1:g.23079AG[5], NG_008657.1:g.23079AG[6], NG_008657.1:g.23079AG[7]

Select item 149101318315.

rs1491013183 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TTT [Show Flanks]
Chromosome:: 4:127923558 (GRCh38)
4:128844714 (GRCh37)
Canonical SPDI:: NC_000004.12:127923558:TT:TTT,NC_000004.12:127923558:TT:TTTTT
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.127923560dup, NC_000004.12:g.127923560_127923561insTTT, NC_000004.11:g.128844715dup, NC_000004.11:g.128844715_128844716insTTT, NG_008657.1:g.47426dup, NG_008657.1:g.47426_47427insAAA

Select item 149093848716.

rs1490938487 [Homo sapiens]

Variant type:: DEL
Alleles:: TTCACTAAGGTCTCAGCTTAA>- [Show Flanks]
Chromosome:: 4:127926345 (GRCh38)
4:128847500 (GRCh37)
Canonical SPDI:: NC_000004.12:127926344:TTCACTAAGGTCTCAGCTTAA:
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/3 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.127926345_127926365del, NC_000004.11:g.128847500_128847520del, NG_008657.1:g.44620_44640del

Select item 149092765717.

rs1490927657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:127957758 (GRCh38)
4:128878913 (GRCh37)
Canonical SPDI:: NC_000004.12:127957757:A:G
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.127957758A>G, NC_000004.11:g.128878913A>G, NG_008657.1:g.13227T>C

Select item 149091208618.

rs1490912086 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:127928333 (GRCh38)
4:128849488 (GRCh37)
Canonical SPDI:: NC_000004.12:127928332:GG:G
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.127928334del, NC_000004.11:g.128849489del, NG_008657.1:g.42652del

Select item 149088787219.

rs1490887872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:127918315 (GRCh38)
4:128839470 (GRCh37)
Canonical SPDI:: NC_000004.12:127918314:T:C
Gene:: MFSD8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.127918315T>C, NC_000004.11:g.128839470T>C, NG_008657.1:g.52670A>G, NM_152778.4:c.*2315A>G, NM_152778.3:c.*2315A>G, NM_152778.2:c.*2315A>G, NM_001363520.3:c.*2315A>G, NM_001363520.2:c.*2315A>G, NM_001363520.1:c.*2315A>G, NM_001363521.3:c.*2315A>G, NM_001363521.2:c.*2315A>G, NM_001363521.1:c.*2315A>G, NM_001371591.2:c.*2315A>G, NM_001371591.1:c.*2315A>G, NM_001371592.2:c.*2315A>G, NM_001371592.1:c.*2315A>G, NM_001371596.2:c.*2315A>G, NM_001371596.1:c.*2315A>G, NM_001371590.2:c.*2315A>G, NM_001371590.1:c.*2315A>G, NM_001371593.2:c.*2315A>G, NM_001371593.1:c.*2315A>G, NM_001371594.2:c.*2315A>G, NM_001371594.1:c.*2315A>G, NM_001410766.1:c.*3444A>G, NM_001371595.1:c.*2315A>G, NM_001410765.1:c.*2315A>G, XM_024453982.2:c.*2315A>G, XM_024453982.1:c.*2315A>G, XM_024453983.2:c.*2315A>G, XM_047449992.1:c.*2315A>G, XM_047449993.1:c.*2315A>G

Select item 149068876520.

rs1490688765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:127941170 (GRCh38)
4:128862325 (GRCh37)
Canonical SPDI:: NC_000004.12:127941169:T:C
Gene:: MFSD8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.127941170T>C, NC_000004.11:g.128862325T>C, NG_008657.1:g.29815A>G

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