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Select item 14915882011.

rs1491588201 has merged into rs71496901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:98746592 (GRCh38)
9:101508874 (GRCh37)
Canonical SPDI:: NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98746582:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.20887/1046 (1000Genomes)
-=0.5/4 (KOREAN)
HGVS:: NC_000009.12:g.98746592_98746600del, NC_000009.12:g.98746593_98746600del, NC_000009.12:g.98746594_98746600del, NC_000009.12:g.98746595_98746600del, NC_000009.12:g.98746596_98746600del, NC_000009.12:g.98746597_98746600del, NC_000009.12:g.98746598_98746600del, NC_000009.12:g.98746599_98746600del, NC_000009.12:g.98746600del, NC_000009.12:g.98746600dup, NC_000009.12:g.98746599_98746600dup, NC_000009.12:g.98746598_98746600dup, NC_000009.12:g.98746597_98746600dup, NC_000009.11:g.101508874_101508882del, NC_000009.11:g.101508875_101508882del, NC_000009.11:g.101508876_101508882del, NC_000009.11:g.101508877_101508882del, NC_000009.11:g.101508878_101508882del, NC_000009.11:g.101508879_101508882del, NC_000009.11:g.101508880_101508882del, NC_000009.11:g.101508881_101508882del, NC_000009.11:g.101508882del, NC_000009.11:g.101508882dup, NC_000009.11:g.101508881_101508882dup, NC_000009.11:g.101508880_101508882dup, NC_000009.11:g.101508879_101508882dup, NG_042237.1:g.54952_54960del, NG_042237.1:g.54953_54960del, NG_042237.1:g.54954_54960del, NG_042237.1:g.54955_54960del, NG_042237.1:g.54956_54960del, NG_042237.1:g.54957_54960del, NG_042237.1:g.54958_54960del, NG_042237.1:g.54959_54960del, NG_042237.1:g.54960del, NG_042237.1:g.54960dup, NG_042237.1:g.54959_54960dup, NG_042237.1:g.54958_54960dup, NG_042237.1:g.54957_54960dup

Select item 14915076722.

rs1491507672 has merged into rs749499336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:98739771 (GRCh38)
9:101502053 (GRCh37)
Canonical SPDI:: NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98739758:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000009.12:g.98739771_98739774del, NC_000009.12:g.98739772_98739774del, NC_000009.12:g.98739773_98739774del, NC_000009.12:g.98739774del, NC_000009.12:g.98739774dup, NC_000009.12:g.98739773_98739774dup, NC_000009.12:g.98739772_98739774dup, NC_000009.12:g.98739771_98739774dup, NC_000009.12:g.98739770_98739774dup, NC_000009.12:g.98739769_98739774dup, NC_000009.12:g.98739768_98739774dup, NC_000009.12:g.98739767_98739774dup, NC_000009.12:g.98739766_98739774dup, NC_000009.12:g.98739765_98739774dup, NC_000009.12:g.98739764_98739774dup, NC_000009.12:g.98739763_98739774dup, NC_000009.12:g.98739762_98739774dup, NC_000009.12:g.98739761_98739774dup, NC_000009.12:g.98739760_98739774dup, NC_000009.12:g.98739759_98739774dup, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98739774_98739775insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502053_101502056del, NC_000009.11:g.101502054_101502056del, NC_000009.11:g.101502055_101502056del, NC_000009.11:g.101502056del, NC_000009.11:g.101502056dup, NC_000009.11:g.101502055_101502056dup, NC_000009.11:g.101502054_101502056dup, NC_000009.11:g.101502053_101502056dup, NC_000009.11:g.101502052_101502056dup, NC_000009.11:g.101502051_101502056dup, NC_000009.11:g.101502050_101502056dup, NC_000009.11:g.101502049_101502056dup, NC_000009.11:g.101502048_101502056dup, NC_000009.11:g.101502047_101502056dup, NC_000009.11:g.101502046_101502056dup, NC_000009.11:g.101502045_101502056dup, NC_000009.11:g.101502044_101502056dup, NC_000009.11:g.101502043_101502056dup, NC_000009.11:g.101502042_101502056dup, NC_000009.11:g.101502041_101502056dup, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101502056_101502057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042237.1:g.61781_61784del, NG_042237.1:g.61782_61784del, NG_042237.1:g.61783_61784del, NG_042237.1:g.61784del, NG_042237.1:g.61784dup, NG_042237.1:g.61783_61784dup, NG_042237.1:g.61782_61784dup, NG_042237.1:g.61781_61784dup, NG_042237.1:g.61780_61784dup, NG_042237.1:g.61779_61784dup, NG_042237.1:g.61778_61784dup, NG_042237.1:g.61777_61784dup, NG_042237.1:g.61776_61784dup, NG_042237.1:g.61775_61784dup, NG_042237.1:g.61774_61784dup, NG_042237.1:g.61773_61784dup, NG_042237.1:g.61772_61784dup, NG_042237.1:g.61771_61784dup, NG_042237.1:g.61770_61784dup, NG_042237.1:g.61769_61784dup, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.61784_61785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914958893.

rs1491495889 [Homo sapiens]

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

Select item 14914893874.

rs1491489387 has merged into rs564456975 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:98787381 (GRCh38)
9:101549663 (GRCh37)
Canonical SPDI:: NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:98787372:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.21386/1071 (1000Genomes)
HGVS:: NC_000009.12:g.98787381_98787388del, NC_000009.12:g.98787383_98787388del, NC_000009.12:g.98787385_98787388del, NC_000009.12:g.98787386_98787388del, NC_000009.12:g.98787387_98787388del, NC_000009.12:g.98787388del, NC_000009.12:g.98787388dup, NC_000009.12:g.98787387_98787388dup, NC_000009.12:g.98787386_98787388dup, NC_000009.11:g.101549663_101549670del, NC_000009.11:g.101549665_101549670del, NC_000009.11:g.101549667_101549670del, NC_000009.11:g.101549668_101549670del, NC_000009.11:g.101549669_101549670del, NC_000009.11:g.101549670del, NC_000009.11:g.101549670dup, NC_000009.11:g.101549669_101549670dup, NC_000009.11:g.101549668_101549670dup, NG_042237.1:g.14163_14170del, NG_042237.1:g.14165_14170del, NG_042237.1:g.14167_14170del, NG_042237.1:g.14168_14170del, NG_042237.1:g.14169_14170del, NG_042237.1:g.14170del, NG_042237.1:g.14170dup, NG_042237.1:g.14169_14170dup, NG_042237.1:g.14168_14170dup

Select item 14914878175.

rs1491487817 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:98776400 (GRCh38)
9:101538682 (GRCh37)
Canonical SPDI:: NC_000009.12:98776399:CT:
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.98776400_98776401del, NC_000009.11:g.101538682_101538683del, NG_042237.1:g.25142_25143del

Select item 14914844276.

rs1491484427 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:98787372 (GRCh38)
9:101549654 (GRCh37)
Canonical SPDI:: NC_000009.12:98787371:CT:
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.98787372_98787373del, NC_000009.11:g.101549654_101549655del, NG_042237.1:g.14170_14171del

Select item 14914596717.

rs1491459671 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 9:98797590 (GRCh38)
9:101559873 (GRCh37)
Canonical SPDI:: NC_000009.12:98797590:T:TTT
Gene:: ANKS6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.00135/22 (TOMMO)
HGVS:: NC_000009.12:g.98797591_98797592insTT, NC_000009.11:g.101559873_101559874insTT, NG_042237.1:g.3952_3953insAA

Select item 14913702038.

rs1491370203 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:98783803 (GRCh38)
9:101546086 (GRCh37)
Canonical SPDI:: NC_000009.12:98783803::A
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.98783803_98783804insA, NC_000009.11:g.101546085_101546086insA, NG_042237.1:g.17739_17740insT

Select item 14913665969.

rs1491366596 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:98797617 (GRCh38)
9:101559899 (GRCh37)
Canonical SPDI:: NC_000009.12:98797614:TTTT:TT
Gene:: ANKS6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.98797617_98797618del, NC_000009.11:g.101559899_101559900del, NG_042237.1:g.3927_3928del

Select item 149134817510.

rs1491348175 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 9:98758325 (GRCh38)
9:101520608 (GRCh37)
Canonical SPDI:: NC_000009.12:98758325::A,NC_000009.12:98758325::G
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.98758325_98758326insA, NC_000009.12:g.98758325_98758326insG, NC_000009.11:g.101520607_101520608insA, NC_000009.11:g.101520607_101520608insG, NG_042237.1:g.43217_43218insT, NG_042237.1:g.43217_43218insC

Select item 149132923811.

rs1491329238 has merged into rs148189750 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:98766935 (GRCh38)
9:101529217 (GRCh37)
Canonical SPDI:: NC_000009.12:98766933:ATA:A
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002135/30 (ALFA)
-=0.00359/503 (GnomAD)
-=0.003993/1057 (TOPMED)
-=0.004216/21 (1000Genomes)
HGVS:: NC_000009.12:g.98766935_98766936del, NC_000009.11:g.101529217_101529218del, NG_042237.1:g.34608_34609del

Select item 149132921412.

rs1491329214 has merged into rs11320839 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:98776410 (GRCh38)
9:101538692 (GRCh37)
Canonical SPDI:: NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:98776400:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.088/339 (ALSPAC)
T=0.1689/846 (1000Genomes)
HGVS:: NC_000009.12:g.98776410_98776417del, NC_000009.12:g.98776414_98776417del, NC_000009.12:g.98776415_98776417del, NC_000009.12:g.98776416_98776417del, NC_000009.12:g.98776417del, NC_000009.12:g.98776417dup, NC_000009.12:g.98776416_98776417dup, NC_000009.12:g.98776415_98776417dup, NC_000009.11:g.101538692_101538699del, NC_000009.11:g.101538696_101538699del, NC_000009.11:g.101538697_101538699del, NC_000009.11:g.101538698_101538699del, NC_000009.11:g.101538699del, NC_000009.11:g.101538699dup, NC_000009.11:g.101538698_101538699dup, NC_000009.11:g.101538697_101538699dup, NG_042237.1:g.25135_25142del, NG_042237.1:g.25139_25142del, NG_042237.1:g.25140_25142del, NG_042237.1:g.25141_25142del, NG_042237.1:g.25142del, NG_042237.1:g.25142dup, NG_042237.1:g.25141_25142dup, NG_042237.1:g.25140_25142dup

Select item 149128174013.

rs1491281740 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:98746583 (GRCh38)
9:101508866 (GRCh37)
Canonical SPDI:: NC_000009.12:98746583::A
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00005/4 (GnomAD)
HGVS:: NC_000009.12:g.98746583_98746584insA, NC_000009.11:g.101508865_101508866insA, NG_042237.1:g.54959_54960insT

Select item 149119816914.

rs1491198169 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:98783803 (GRCh38)
9:101546085 (GRCh37)
Canonical SPDI:: NC_000009.12:98783802:CT:
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000009.12:g.98783803_98783804del, NC_000009.11:g.101546085_101546086del, NG_042237.1:g.17739_17740del

Select item 149115803515.

rs1491158035 has merged into rs35699060 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:98758333 (GRCh38)
9:101520615 (GRCh37)
Canonical SPDI:: NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:98758324:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
-=0.4587/2297 (1000Genomes)
HGVS:: NC_000009.12:g.98758333_98758339del, NC_000009.12:g.98758334_98758339del, NC_000009.12:g.98758336_98758339del, NC_000009.12:g.98758337_98758339del, NC_000009.12:g.98758338_98758339del, NC_000009.12:g.98758339del, NC_000009.12:g.98758339dup, NC_000009.12:g.98758338_98758339dup, NC_000009.12:g.98758337_98758339dup, NC_000009.12:g.98758336_98758339dup, NC_000009.12:g.98758335_98758339dup, NC_000009.12:g.98758334_98758339dup, NC_000009.12:g.98758333_98758339dup, NC_000009.12:g.98758332_98758339dup, NC_000009.12:g.98758331_98758339dup, NC_000009.12:g.98758330_98758339dup, NC_000009.12:g.98758328_98758339dup, NC_000009.12:g.98758326_98758339dup, NC_000009.12:g.98758339_98758340insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98758339_98758340insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.98758339_98758340insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101520615_101520621del, NC_000009.11:g.101520616_101520621del, NC_000009.11:g.101520618_101520621del, NC_000009.11:g.101520619_101520621del, NC_000009.11:g.101520620_101520621del, NC_000009.11:g.101520621del, NC_000009.11:g.101520621dup, NC_000009.11:g.101520620_101520621dup, NC_000009.11:g.101520619_101520621dup, NC_000009.11:g.101520618_101520621dup, NC_000009.11:g.101520617_101520621dup, NC_000009.11:g.101520616_101520621dup, NC_000009.11:g.101520615_101520621dup, NC_000009.11:g.101520614_101520621dup, NC_000009.11:g.101520613_101520621dup, NC_000009.11:g.101520612_101520621dup, NC_000009.11:g.101520610_101520621dup, NC_000009.11:g.101520608_101520621dup, NC_000009.11:g.101520621_101520622insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101520621_101520622insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.101520621_101520622insTTTTTTTTTTTTTTTTTTTTTTTT, NG_042237.1:g.43212_43218del, NG_042237.1:g.43213_43218del, NG_042237.1:g.43215_43218del, NG_042237.1:g.43216_43218del, NG_042237.1:g.43217_43218del, NG_042237.1:g.43218del, NG_042237.1:g.43218dup, NG_042237.1:g.43217_43218dup, NG_042237.1:g.43216_43218dup, NG_042237.1:g.43215_43218dup, NG_042237.1:g.43214_43218dup, NG_042237.1:g.43213_43218dup, NG_042237.1:g.43212_43218dup, NG_042237.1:g.43211_43218dup, NG_042237.1:g.43210_43218dup, NG_042237.1:g.43209_43218dup, NG_042237.1:g.43207_43218dup, NG_042237.1:g.43205_43218dup, NG_042237.1:g.43218_43219insAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.43218_43219insAAAAAAAAAAAAAAAAAAAAAA, NG_042237.1:g.43218_43219insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149095498616.

rs1490954986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:98773152 (GRCh38)
9:101535434 (GRCh37)
Canonical SPDI:: NC_000009.12:98773151:T:C
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.98773152T>C, NC_000009.11:g.101535434T>C, NG_042237.1:g.28391A>G

Select item 149091920617.

rs1490919206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98786106 (GRCh38)
9:101548388 (GRCh37)
Canonical SPDI:: NC_000009.12:98786105:G:A
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.98786106G>A, NC_000009.11:g.101548388G>A, NG_042237.1:g.15437C>T

Select item 149088346418.

rs1490883464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:98788298 (GRCh38)
9:101550580 (GRCh37)
Canonical SPDI:: NC_000009.12:98788297:C:T
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.98788298C>T, NC_000009.11:g.101550580C>T, NG_042237.1:g.13245G>A

Select item 149074609019.

rs1490746090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:98756566 (GRCh38)
9:101518848 (GRCh37)
Canonical SPDI:: NC_000009.12:98756565:G:T
Gene:: ANKS6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98756566G>T, NC_000009.11:g.101518848G>T, NG_042237.1:g.44977C>A, NM_173551.5:c.2180C>A, NM_173551.4:c.2180C>A, NM_173551.3:c.2180C>A, NP_775822.3:p.Ser727Tyr

Select item 149073484520.

rs1490734845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:98795189 (GRCh38)
9:101557471 (GRCh37)
Canonical SPDI:: NC_000009.12:98795188:C:T
Gene:: ANKS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.98795189C>T, NC_000009.11:g.101557471C>T, NG_042237.1:g.6354G>A

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