SNP Links for Gene (Select 105378758) - SNP

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Items: 1 to 20 of 2284

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Select item 14909103361.

rs1490910336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:59810654 (GRCh38)
1:60276326 (GRCh37)
Canonical SPDI:: NC_000001.11:59810653:G:A
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.59810654G>A, NC_000001.10:g.60276326G>A

Select item 14908255012.

rs1490825501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:59808823 (GRCh38)
1:60274495 (GRCh37)
Canonical SPDI:: NC_000001.11:59808822:C:G
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.59808823C>G, NC_000001.10:g.60274495C>G

Select item 14907948023.

rs1490794802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:59807708 (GRCh38)
1:60273380 (GRCh37)
Canonical SPDI:: NC_000001.11:59807707:G:A,NC_000001.11:59807707:G:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.59807708G>A, NC_000001.11:g.59807708G>T, NC_000001.10:g.60273380G>A, NC_000001.10:g.60273380G>T

Select item 14903034034.

rs1490303403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:59807241 (GRCh38)
1:60272913 (GRCh37)
Canonical SPDI:: NC_000001.11:59807240:A:G
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.59807241A>G, NC_000001.10:g.60272913A>G

Select item 14896809235.

rs1489680923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:59815225 (GRCh38)
1:60280897 (GRCh37)
Canonical SPDI:: NC_000001.11:59815224:G:A
Gene:: HOOK1 (Varview), LOC105378758 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_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.59815225G>A, NC_000001.10:g.60280897G>A

Select item 14895840986.

rs1489584098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:59810451 (GRCh38)
1:60276123 (GRCh37)
Canonical SPDI:: NC_000001.11:59810450:C:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_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.59810451C>T, NC_000001.10:g.60276123C>T

Select item 14892500537.

rs1489250053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:59811170 (GRCh38)
1:60276842 (GRCh37)
Canonical SPDI:: NC_000001.11:59811169:C:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.59811170C>T, NC_000001.10:g.60276842C>T

Select item 14877713778.

rs1487771377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:59817300 (GRCh38)
1:60282972 (GRCh37)
Canonical SPDI:: NC_000001.11:59817299:A:G
Gene:: HOOK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.59817300A>G, NC_000001.10:g.60282972A>G

Select item 14877227029.

rs1487722702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:59816105 (GRCh38)
1:60281777 (GRCh37)
Canonical SPDI:: NC_000001.11:59816104:C:G,NC_000001.11:59816104:C:T
Gene:: HOOK1 (Varview), LOC105378758 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.59816105C>G, NC_000001.11:g.59816105C>T, NC_000001.10:g.60281777C>G, NC_000001.10:g.60281777C>T

Select item 148764048910.

rs1487640489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:59807820 (GRCh38)
1:60273492 (GRCh37)
Canonical SPDI:: NC_000001.11:59807819:A:G
Gene:: LOC105378758 (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.59807820A>G, NC_000001.10:g.60273492A>G

Select item 148740355611.

rs1487403556 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 1:59816643 (GRCh38)
1:60282315 (GRCh37)
Canonical SPDI:: NC_000001.11:59816640:TTATT:TT
Gene:: HOOK1 (Varview), LOC105378758 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.59816643_59816645del, NC_000001.10:g.60282315_60282317del

Select item 148729544712.

rs1487295447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:59809841 (GRCh38)
1:60275513 (GRCh37)
Canonical SPDI:: NC_000001.11:59809840:C:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.59809841C>T, NC_000001.10:g.60275513C>T

Select item 148632933713.

rs1486329337 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:59808697 (GRCh38)
1:60274369 (GRCh37)
Canonical SPDI:: NC_000001.11:59808695:ACA:A
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.59808697_59808698del, NC_000001.10:g.60274369_60274370del

Select item 148598100514.

rs1485981005 [Homo sapiens]

Variant type:: DEL
Alleles:: ATGACGGGT>- [Show Flanks]
Chromosome:: 1:59811922 (GRCh38)
1:60277594 (GRCh37)
Canonical SPDI:: NC_000001.11:59811921:ATGACGGGT:
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.59811922_59811930del, NC_000001.10:g.60277594_60277602del

Select item 148596159615.

rs1485961596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:59817146 (GRCh38)
1:60282818 (GRCh37)
Canonical SPDI:: NC_000001.11:59817145:A:G
Gene:: HOOK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.59817146A>G, NC_000001.10:g.60282818A>G

Select item 148593792716.

rs1485937927 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGATGGTTAAGGTGTGGTTCTTAACT [Show Flanks]
Chromosome:: 1:59816027 (GRCh38)
1:60281700 (GRCh37)
Canonical SPDI:: NC_000001.11:59816027::TGATGGTTAAGGTGTGGTTCTTAACT
Gene:: HOOK1 (Varview), LOC105378758 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGATGGTTAAGGTGTGGTTCTTAACT=0./0 (ALFA)
TGATGGTTAAGGTGTGGTTCTTAACT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.59816027_59816028insTGATGGTTAAGGTGTGGTTCTTAACT, NC_000001.10:g.60281699_60281700insTGATGGTTAAGGTGTGGTTCTTAACT

Select item 148566890017.

rs1485668900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:59807663 (GRCh38)
1:60273335 (GRCh37)
Canonical SPDI:: NC_000001.11:59807662:G:A
Gene:: LOC105378758 (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.59807663G>A, NC_000001.10:g.60273335G>A

Select item 148522628718.

rs1485226287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:59817122 (GRCh38)
1:60282794 (GRCh37)
Canonical SPDI:: NC_000001.11:59817121:A:C
Gene:: HOOK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.59817122A>C, NC_000001.10:g.60282794A>C

Select item 148503232519.

rs1485032325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:59812039 (GRCh38)
1:60277711 (GRCh37)
Canonical SPDI:: NC_000001.11:59812038:C:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.59812039C>T, NC_000001.10:g.60277711C>T

Select item 148499899120.

rs1484998991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:59811426 (GRCh38)
1:60277098 (GRCh37)
Canonical SPDI:: NC_000001.11:59811425:A:G,NC_000001.11:59811425:A:T
Gene:: LOC105378758 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.59811426A>G, NC_000001.11:g.59811426A>T, NC_000001.10:g.60277098A>G, NC_000001.10:g.60277098A>T

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