SNP Links for Gene (Select 105378135) - SNP

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Select item 14913513721.

rs1491351372 has merged into rs5881760 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:168046197 (GRCh38)
6:168446877 (GRCh37)
Canonical SPDI:: NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:168046185:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.168046197_168046198del, NC_000006.12:g.168046198del, NC_000006.12:g.168046198dup, NC_000006.12:g.168046197_168046198dup, NC_000006.12:g.168046196_168046198dup, NC_000006.12:g.168046195_168046198dup, NC_000006.12:g.168046194_168046198dup, NC_000006.11:g.168446877_168446878del, NC_000006.11:g.168446878del, NC_000006.11:g.168446878dup, NC_000006.11:g.168446877_168446878dup, NC_000006.11:g.168446876_168446878dup, NC_000006.11:g.168446875_168446878dup, NC_000006.11:g.168446874_168446878dup

Select item 14913098662.

rs1491309866 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:168046186 (GRCh38)
6:168446867 (GRCh37)
Canonical SPDI:: NC_000006.12:168046186::C
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000063/1 (GnomAD)
HGVS:: NC_000006.12:g.168046186_168046187insC, NC_000006.11:g.168446866_168446867insC

Select item 14908926033.

rs1490892603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:168047130 (GRCh38)
6:168447810 (GRCh37)
Canonical SPDI:: NC_000006.12:168047129:A:C,NC_000006.12:168047129:A:G
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.168047130A>C, NC_000006.12:g.168047130A>G, NC_000006.11:g.168447810A>C, NC_000006.11:g.168447810A>G

Select item 14899468074.

rs1489946807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:168046535 (GRCh38)
6:168447215 (GRCh37)
Canonical SPDI:: NC_000006.12:168046534:G:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.168046535G>A, NC_000006.11:g.168447215G>A

Select item 14899399995.

rs1489939999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:168047458 (GRCh38)
6:168448138 (GRCh37)
Canonical SPDI:: NC_000006.12:168047457:A:T
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.168047458A>T, NC_000006.11:g.168448138A>T

Select item 14899147206.

rs1489914720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:168045301 (GRCh38)
6:168445981 (GRCh37)
Canonical SPDI:: NC_000006.12:168045300:G:A
Gene:: KIF25 (Varview), LOC105378135 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000036/5 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.168045301G>A, NC_000006.11:g.168445981G>A, XR_943283.2:n.224C>T, XR_943283.1:n.224C>T

Select item 14897344567.

rs1489734456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:168047477 (GRCh38)
6:168448157 (GRCh37)
Canonical SPDI:: NC_000006.12:168047476:G:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.168047477G>A, NC_000006.11:g.168448157G>A

Select item 14897095298.

rs1489709529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:168047501 (GRCh38)
6:168448181 (GRCh37)
Canonical SPDI:: NC_000006.12:168047500:C:T
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.168047501C>T, NC_000006.11:g.168448181C>T

Select item 14891981809.

rs1489198180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:168047786 (GRCh38)
6:168448466 (GRCh37)
Canonical SPDI:: NC_000006.12:168047785:T:C
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.168047786T>C, NC_000006.11:g.168448466T>C

Select item 148560167210.

rs1485601672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:168045049 (GRCh38)
6:168445729 (GRCh37)
Canonical SPDI:: NC_000006.12:168045048:A:C
Gene:: KIF25 (Varview), LOC105378135 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.168045049A>C, NC_000006.11:g.168445729A>C, NM_005355.5:c.*53A>C, NM_005355.4:c.*53A>C, NM_005355.3:c.*53A>C, XM_011535803.4:c.*53A>C, XM_011535803.3:c.*53A>C, XM_011535803.2:c.*53A>C, XM_011535803.1:c.*53A>C, NM_030615.4:c.*53A>C, NM_030615.3:c.*53A>C, NM_030615.2:c.*53A>C, XM_047418749.1:c.*53A>C, XM_047418750.1:c.*53A>C

Select item 148384713611.

rs1483847136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:168047400 (GRCh38)
6:168448080 (GRCh37)
Canonical SPDI:: NC_000006.12:168047399:C:A,NC_000006.12:168047399:C:T
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.168047400C>A, NC_000006.12:g.168047400C>T, NC_000006.11:g.168448080C>A, NC_000006.11:g.168448080C>T

Select item 148072256612.

rs1480722566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:168046310 (GRCh38)
6:168446990 (GRCh37)
Canonical SPDI:: NC_000006.12:168046309:G:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.168046310G>A, NC_000006.11:g.168446990G>A

Select item 147966238113.

rs1479662381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:168046625 (GRCh38)
6:168447305 (GRCh37)
Canonical SPDI:: NC_000006.12:168046624:A:G
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.168046625A>G, NC_000006.11:g.168447305A>G

Select item 147901273514.

rs1479012735 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:168047490 (GRCh38)
6:168448170 (GRCh37)
Canonical SPDI:: NC_000006.12:168047488:ATA:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.168047490_168047491del, NC_000006.11:g.168448170_168448171del

Select item 147834531415.

rs1478345314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:168045437 (GRCh38)
6:168446117 (GRCh37)
Canonical SPDI:: NC_000006.12:168045436:C:T
Gene:: KIF25 (Varview), LOC105378135 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.168045437C>T, NC_000006.11:g.168446117C>T

Select item 147765522116.

rs1477655221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:168047080 (GRCh38)
6:168447760 (GRCh37)
Canonical SPDI:: NC_000006.12:168047079:T:C
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.168047080T>C, NC_000006.11:g.168447760T>C

Select item 147601671017.

rs1476016710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:168048085 (GRCh38)
6:168448765 (GRCh37)
Canonical SPDI:: NC_000006.12:168048084:T:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.168048085T>A, NC_000006.11:g.168448765T>A

Select item 147355795418.

rs1473557954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:168045905 (GRCh38)
6:168446585 (GRCh37)
Canonical SPDI:: NC_000006.12:168045904:G:A
Gene:: LOC105378135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.168045905G>A, NC_000006.11:g.168446585G>A

Select item 147352734719.

rs1473527347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:168045568 (GRCh38)
6:168446248 (GRCh37)
Canonical SPDI:: NC_000006.12:168045567:G:T
Gene:: KIF25 (Varview), LOC105378135 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,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_000006.12:g.168045568G>T, NC_000006.11:g.168446248G>T

Select item 147316851420.

rs1473168514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:168045078 (GRCh38)
6:168445758 (GRCh37)
Canonical SPDI:: NC_000006.12:168045077:T:C
Gene:: KIF25 (Varview), LOC105378135 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.168045078T>C, NC_000006.11:g.168445758T>C, NM_005355.5:c.*82T>C, NM_005355.4:c.*82T>C, NM_005355.3:c.*82T>C, XM_011535803.4:c.*82T>C, XM_011535803.3:c.*82T>C, XM_011535803.2:c.*82T>C, XM_011535803.1:c.*82T>C, NM_030615.4:c.*82T>C, NM_030615.3:c.*82T>C, NM_030615.2:c.*82T>C, XM_047418749.1:c.*82T>C, XM_047418750.1:c.*82T>C

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