SNP Links for Gene (Select 158381) - SNP

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Select item 14914916001.

rs1491491600 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:35413798 (GRCh38)
9:35413795 (GRCh37)
Canonical SPDI:: NC_000009.12:35413796:AGA:A
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.35413798_35413799del, NC_000009.11:g.35413795_35413796del

Select item 14914435252.

rs1491443525 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:35455076 (GRCh38)
9:35455073 (GRCh37)
Canonical SPDI:: NC_000009.12:35455075:CA:
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00152/18 (ALFA)
-=0.0002/5 (TOMMO)
HGVS:: NC_000009.12:g.35455076_35455077del, NC_000009.11:g.35455073_35455074del

Select item 14914304783.

rs1491430478 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GGAA [Show Flanks]
Chromosome:: 9:35477867 (GRCh38)
9:35477865 (GRCh37)
Canonical SPDI:: NC_000009.12:35477867:AA:AAGAA,NC_000009.12:35477867:AA:AAGGAA
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGGAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.35477869_35477870insGAA, NC_000009.12:g.35477869_35477870insGGAA, NC_000009.11:g.35477866_35477867insGAA, NC_000009.11:g.35477866_35477867insGGAA

Select item 14912653214.

rs1491265321 has merged into rs397966312 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:35477875 (GRCh38)
9:35477872 (GRCh37)
Canonical SPDI:: NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35477866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000009.12:g.35477875_35477886del, NC_000009.12:g.35477880_35477886del, NC_000009.12:g.35477882_35477886del, NC_000009.12:g.35477884_35477886del, NC_000009.12:g.35477885_35477886del, NC_000009.12:g.35477886del, NC_000009.12:g.35477886dup, NC_000009.12:g.35477885_35477886dup, NC_000009.12:g.35477884_35477886dup, NC_000009.12:g.35477883_35477886dup, NC_000009.12:g.35477882_35477886dup, NC_000009.12:g.35477881_35477886dup, NC_000009.12:g.35477877_35477886dup, NC_000009.11:g.35477872_35477883del, NC_000009.11:g.35477877_35477883del, NC_000009.11:g.35477879_35477883del, NC_000009.11:g.35477881_35477883del, NC_000009.11:g.35477882_35477883del, NC_000009.11:g.35477883del, NC_000009.11:g.35477883dup, NC_000009.11:g.35477882_35477883dup, NC_000009.11:g.35477881_35477883dup, NC_000009.11:g.35477880_35477883dup, NC_000009.11:g.35477879_35477883dup, NC_000009.11:g.35477878_35477883dup, NC_000009.11:g.35477874_35477883dup

Select item 14912351695.

rs1491235169 has merged into rs58063517 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:35455086 (GRCh38)
9:35455083 (GRCh37)
Canonical SPDI:: NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35455076:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.35455086_35455103del, NC_000009.12:g.35455087_35455103del, NC_000009.12:g.35455088_35455103del, NC_000009.12:g.35455089_35455103del, NC_000009.12:g.35455090_35455103del, NC_000009.12:g.35455091_35455103del, NC_000009.12:g.35455092_35455103del, NC_000009.12:g.35455093_35455103del, NC_000009.12:g.35455094_35455103del, NC_000009.12:g.35455095_35455103del, NC_000009.12:g.35455096_35455103del, NC_000009.12:g.35455097_35455103del, NC_000009.12:g.35455098_35455103del, NC_000009.12:g.35455099_35455103del, NC_000009.12:g.35455100_35455103del, NC_000009.12:g.35455101_35455103del, NC_000009.12:g.35455102_35455103del, NC_000009.12:g.35455103del, NC_000009.12:g.35455103dup, NC_000009.12:g.35455102_35455103dup, NC_000009.12:g.35455101_35455103dup, NC_000009.12:g.35455100_35455103dup, NC_000009.12:g.35455099_35455103dup, NC_000009.12:g.35455098_35455103dup, NC_000009.12:g.35455097_35455103dup, NC_000009.12:g.35455096_35455103dup, NC_000009.12:g.35455095_35455103dup, NC_000009.12:g.35455094_35455103dup, NC_000009.12:g.35455093_35455103dup, NC_000009.12:g.35455092_35455103dup, NC_000009.12:g.35455091_35455103dup, NC_000009.12:g.35455090_35455103dup, NC_000009.12:g.35455089_35455103dup, NC_000009.12:g.35455088_35455103dup, NC_000009.12:g.35455087_35455103dup, NC_000009.12:g.35455086_35455103dup, NC_000009.12:g.35455085_35455103dup, NC_000009.12:g.35455084_35455103dup, NC_000009.12:g.35455083_35455103dup, NC_000009.12:g.35455082_35455103dup, NC_000009.12:g.35455081_35455103dup, NC_000009.12:g.35455080_35455103dup, NC_000009.12:g.35455079_35455103dup, NC_000009.12:g.35455078_35455103dup, NC_000009.12:g.35455077_35455103dup, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.35455103_35455104insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455083_35455100del, NC_000009.11:g.35455084_35455100del, NC_000009.11:g.35455085_35455100del, NC_000009.11:g.35455086_35455100del, NC_000009.11:g.35455087_35455100del, NC_000009.11:g.35455088_35455100del, NC_000009.11:g.35455089_35455100del, NC_000009.11:g.35455090_35455100del, NC_000009.11:g.35455091_35455100del, NC_000009.11:g.35455092_35455100del, NC_000009.11:g.35455093_35455100del, NC_000009.11:g.35455094_35455100del, NC_000009.11:g.35455095_35455100del, NC_000009.11:g.35455096_35455100del, NC_000009.11:g.35455097_35455100del, NC_000009.11:g.35455098_35455100del, NC_000009.11:g.35455099_35455100del, NC_000009.11:g.35455100del, NC_000009.11:g.35455100dup, NC_000009.11:g.35455099_35455100dup, NC_000009.11:g.35455098_35455100dup, NC_000009.11:g.35455097_35455100dup, NC_000009.11:g.35455096_35455100dup, NC_000009.11:g.35455095_35455100dup, NC_000009.11:g.35455094_35455100dup, NC_000009.11:g.35455093_35455100dup, NC_000009.11:g.35455092_35455100dup, NC_000009.11:g.35455091_35455100dup, NC_000009.11:g.35455090_35455100dup, NC_000009.11:g.35455089_35455100dup, NC_000009.11:g.35455088_35455100dup, NC_000009.11:g.35455087_35455100dup, NC_000009.11:g.35455086_35455100dup, NC_000009.11:g.35455085_35455100dup, NC_000009.11:g.35455084_35455100dup, NC_000009.11:g.35455083_35455100dup, NC_000009.11:g.35455082_35455100dup, NC_000009.11:g.35455081_35455100dup, NC_000009.11:g.35455080_35455100dup, NC_000009.11:g.35455079_35455100dup, NC_000009.11:g.35455078_35455100dup, NC_000009.11:g.35455077_35455100dup, NC_000009.11:g.35455076_35455100dup, NC_000009.11:g.35455075_35455100dup, NC_000009.11:g.35455074_35455100dup, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.35455100_35455101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911984226.

rs1491198422 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:35409056 (GRCh38)
9:35409053 (GRCh37)
Canonical SPDI:: NC_000009.12:35409055:AG:
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.35409056_35409057del, NC_000009.11:g.35409053_35409054del

Select item 14911243247.

rs1491124324 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:35409086 (GRCh38)
9:35409084 (GRCh37)
Canonical SPDI:: NC_000009.12:35409086:G:GG
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.35409087dup, NC_000009.11:g.35409084dup

Select item 14910933248.

rs1491093324 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:35413797 (GRCh38)
9:35413795 (GRCh37)
Canonical SPDI:: NC_000009.12:35413797::T
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.35413797_35413798insT, NC_000009.11:g.35413794_35413795insT

Select item 14910039499.

rs1491003949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35448608 (GRCh38)
9:35448605 (GRCh37)
Canonical SPDI:: NC_000009.12:35448607:A:G
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000009.12:g.35448608A>G, NC_000009.11:g.35448605A>G

Select item 149099443010.

rs1490994430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35469042 (GRCh38)
9:35469039 (GRCh37)
Canonical SPDI:: NC_000009.12:35469041:G:A
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000094/25 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.35469042G>A, NC_000009.11:g.35469039G>A

Select item 149097408311.

rs1490974083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35464006 (GRCh38)
9:35464003 (GRCh37)
Canonical SPDI:: NC_000009.12:35464005:A:G
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.35464006A>G, NC_000009.11:g.35464003A>G

Select item 149095227612.

rs1490952276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35447374 (GRCh38)
9:35447371 (GRCh37)
Canonical SPDI:: NC_000009.12:35447373:G:A
Gene:: ATP8B5P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35447374G>A, NC_000009.11:g.35447371G>A, NM_001029857.2:c.-323G>A, NR_003581.2:n.854G>A, NR_003581.1:n.841G>A, NM_001029857.1:c.*35G>A, NR_003582.1:n.858G>A, NR_110320.1:n.854G>A

Select item 149092062413.

rs1490920624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:35482521 (GRCh38)
9:35482518 (GRCh37)
Canonical SPDI:: NC_000009.12:35482520:G:A,NC_000009.12:35482520:G:T
Gene:: ATP8B5P (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35482521G>A, NC_000009.12:g.35482521G>T, NC_000009.11:g.35482518G>A, NC_000009.11:g.35482518G>T, NR_003581.2:n.2355G>A, NR_003581.2:n.2355G>T, NR_003581.1:n.2342G>A, NR_003581.1:n.2342G>T, NM_001029857.1:c.*1536G>A, NM_001029857.1:c.*1536G>T

Select item 149092044814.

rs1490920448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:35425490 (GRCh38)
9:35425487 (GRCh37)
Canonical SPDI:: NC_000009.12:35425489:G:T
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.002/9 (ALFA)
T=0.0022/10 (Estonian)
HGVS:: NC_000009.12:g.35425490G>T, NC_000009.11:g.35425487G>T

Select item 149086630715.

rs1490866307 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:35466440 (GRCh38)
9:35466438 (GRCh37)
Canonical SPDI:: NC_000009.12:35466440:GGGG:GGGGG
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35466444dup, NC_000009.11:g.35466441dup

Select item 149085410916.

rs1490854109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35428353 (GRCh38)
9:35428350 (GRCh37)
Canonical SPDI:: NC_000009.12:35428352:A:G
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.35428353A>G, NC_000009.11:g.35428350A>G

Select item 149084757717.

rs1490847577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:35465320 (GRCh38)
9:35465317 (GRCh37)
Canonical SPDI:: NC_000009.12:35465319:A:C
Gene:: ATP8B5P (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35465320A>C, NC_000009.11:g.35465317A>C

Select item 149078961818.

rs1490789618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:35483436 (GRCh38)
9:35483433 (GRCh37)
Canonical SPDI:: NC_000009.12:35483435:C:G,NC_000009.12:35483435:C:T
Gene:: ATP8B5P (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.35483436C>G, NC_000009.12:g.35483436C>T, NC_000009.11:g.35483433C>G, NC_000009.11:g.35483433C>T

Select item 149077257319.

rs1490772573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35480028 (GRCh38)
9:35480025 (GRCh37)
Canonical SPDI:: NC_000009.12:35480027:C:T
Gene:: ATP8B5P (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.35480028C>T, NC_000009.11:g.35480025C>T, NR_003581.2:n.1467C>T, NR_003581.1:n.1454C>T, NM_001029857.1:c.*648C>T

Select item 149072174920.

rs1490721749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:35448737 (GRCh38)
9:35448734 (GRCh37)
Canonical SPDI:: NC_000009.12:35448736:C:G,NC_000009.12:35448736:C:T
Gene:: ATP8B5P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.35448737C>G, NC_000009.12:g.35448737C>T, NC_000009.11:g.35448734C>G, NC_000009.11:g.35448734C>T

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