SNP Links for Gene (Select 26056) - SNP

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Select item 14914419491.

rs1491441949 has merged into rs550613252 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:73094131 (GRCh38)
2:73321259 (GRCh37)
Canonical SPDI:: NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73094120:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.10374/61 (NorthernSweden)
-=0.39237/1965 (1000Genomes)
HGVS:: NC_000002.12:g.73094131_73094145del, NC_000002.12:g.73094134_73094145del, NC_000002.12:g.73094135_73094145del, NC_000002.12:g.73094136_73094145del, NC_000002.12:g.73094137_73094145del, NC_000002.12:g.73094138_73094145del, NC_000002.12:g.73094139_73094145del, NC_000002.12:g.73094140_73094145del, NC_000002.12:g.73094141_73094145del, NC_000002.12:g.73094142_73094145del, NC_000002.12:g.73094143_73094145del, NC_000002.12:g.73094144_73094145del, NC_000002.12:g.73094145del, NC_000002.12:g.73094145dup, NC_000002.12:g.73094144_73094145dup, NC_000002.12:g.73094143_73094145dup, NC_000002.12:g.73094142_73094145dup, NC_000002.12:g.73094141_73094145dup, NC_000002.12:g.73094138_73094145dup, NC_000002.12:g.73094145_73094146insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.73321259_73321273del, NC_000002.11:g.73321262_73321273del, NC_000002.11:g.73321263_73321273del, NC_000002.11:g.73321264_73321273del, NC_000002.11:g.73321265_73321273del, NC_000002.11:g.73321266_73321273del, NC_000002.11:g.73321267_73321273del, NC_000002.11:g.73321268_73321273del, NC_000002.11:g.73321269_73321273del, NC_000002.11:g.73321270_73321273del, NC_000002.11:g.73321271_73321273del, NC_000002.11:g.73321272_73321273del, NC_000002.11:g.73321273del, NC_000002.11:g.73321273dup, NC_000002.11:g.73321272_73321273dup, NC_000002.11:g.73321271_73321273dup, NC_000002.11:g.73321270_73321273dup, NC_000002.11:g.73321269_73321273dup, NC_000002.11:g.73321266_73321273dup, NC_000002.11:g.73321273_73321274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914128722.

rs1491412872 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:73075762 (GRCh38)
2:73302890 (GRCh37)
Canonical SPDI:: NC_000002.12:73075761:AG:
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.73075762_73075763del, NC_000002.11:g.73302890_73302891del

Select item 14913055013.

rs1491305501 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:73094120 (GRCh38)
2:73321248 (GRCh37)
Canonical SPDI:: NC_000002.12:73094119:CA:
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.73094120_73094121del, NC_000002.11:g.73321248_73321249del

Select item 14910201684.

rs1491020168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGACTCACC [Show Flanks]
Chromosome:: 2:73089915 (GRCh38)
2:73317044 (GRCh37)
Canonical SPDI:: NC_000002.12:73089915:C:CTGACTCACC
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTGACTCACC=0./0 (ALFA)
HGVS:: NC_000002.12:g.73089916_73089917insTGACTCACC, NC_000002.11:g.73317044_73317045insTGACTCACC

Select item 14909663645.

rs1490966364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:73075494 (GRCh38)
2:73302622 (GRCh37)
Canonical SPDI:: NC_000002.12:73075493:A:C,NC_000002.12:73075493:A:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73075494A>C, NC_000002.12:g.73075494A>T, NC_000002.11:g.73302622A>C, NC_000002.11:g.73302622A>T, NM_015470.3:c.*27T>G, NM_015470.3:c.*27T>A, NM_015470.2:c.*27T>G, NM_015470.2:c.*27T>A, NM_001371272.1:c.*27T>G, NM_001371272.1:c.*27T>A

Select item 14908418556.

rs1490841855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:73099966 (GRCh38)
2:73327094 (GRCh37)
Canonical SPDI:: NC_000002.12:73099965:G:A
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.73099966G>A, NC_000002.11:g.73327094G>A

Select item 14907488147.

rs1490748814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:73092548 (GRCh38)
2:73319676 (GRCh37)
Canonical SPDI:: NC_000002.12:73092547:C:G
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.73092548C>G, NC_000002.11:g.73319676C>G

Select item 14907392468.

rs1490739246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:73079303 (GRCh38)
2:73306431 (GRCh37)
Canonical SPDI:: NC_000002.12:73079302:G:A
Gene:: RAB11FIP5 (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_000002.12:g.73079303G>A, NC_000002.11:g.73306431G>A

Select item 14906904659.

rs1490690465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:73108172 (GRCh38)
2:73335300 (GRCh37)
Canonical SPDI:: NC_000002.12:73108171:G:A,NC_000002.12:73108171:G:C
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.73108172G>A, NC_000002.12:g.73108172G>C, NC_000002.11:g.73335300G>A, NC_000002.11:g.73335300G>C

Select item 149047828610.

rs1490478286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73099695 (GRCh38)
2:73326823 (GRCh37)
Canonical SPDI:: NC_000002.12:73099694:C:T
Gene:: RAB11FIP5 (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_000002.12:g.73099695C>T, NC_000002.11:g.73326823C>T

Select item 149046834611.

rs1490468346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:73100715 (GRCh38)
2:73327843 (GRCh37)
Canonical SPDI:: NC_000002.12:73100714:C:A
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.73100715C>A, NC_000002.11:g.73327843C>A

Select item 149021566512.

rs1490215665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:73109638 (GRCh38)
2:73336766 (GRCh37)
Canonical SPDI:: NC_000002.12:73109637:C:A,NC_000002.12:73109637:C:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.73109638C>A, NC_000002.12:g.73109638C>T, NC_000002.11:g.73336766C>A, NC_000002.11:g.73336766C>T

Select item 149015887413.

rs1490158874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:73100701 (GRCh38)
2:73327829 (GRCh37)
Canonical SPDI:: NC_000002.12:73100700:C:G,NC_000002.12:73100700:C:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.73100701C>G, NC_000002.12:g.73100701C>T, NC_000002.11:g.73327829C>G, NC_000002.11:g.73327829C>T

Select item 149010746514.

rs1490107465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73101696 (GRCh38)
2:73328824 (GRCh37)
Canonical SPDI:: NC_000002.12:73101695:C:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.73101696C>T, NC_000002.11:g.73328824C>T

Select item 149002421315.

rs1490024213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:73098797 (GRCh38)
2:73325925 (GRCh37)
Canonical SPDI:: NC_000002.12:73098796:C:A,NC_000002.12:73098796:C:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.73098797C>A, NC_000002.12:g.73098797C>T, NC_000002.11:g.73325925C>A, NC_000002.11:g.73325925C>T

Select item 148992165716.

rs1489921657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73078083 (GRCh38)
2:73305211 (GRCh37)
Canonical SPDI:: NC_000002.12:73078082:A:G
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.73078083A>G, NC_000002.11:g.73305211A>G

Select item 148987241617.

rs1489872416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:73083471 (GRCh38)
2:73310599 (GRCh37)
Canonical SPDI:: NC_000002.12:73083470:T:G
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.73083471T>G, NC_000002.11:g.73310599T>G

Select item 148982545118.

rs1489825451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73075795 (GRCh38)
2:73302923 (GRCh37)
Canonical SPDI:: NC_000002.12:73075794:C:T
Gene:: RAB11FIP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.73075795C>T, NC_000002.11:g.73302923C>T

Select item 148978888619.

rs1489788886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:73076673 (GRCh38)
2:73303801 (GRCh37)
Canonical SPDI:: NC_000002.12:73076672:T:A
Gene:: RAB11FIP5 (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_000002.12:g.73076673T>A, NC_000002.11:g.73303801T>A

Select item 148978747820.

rs1489787478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:73090643 (GRCh38)
2:73317771 (GRCh37)
Canonical SPDI:: NC_000002.12:73090642:A:C
Gene:: RAB11FIP5 (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_000002.12:g.73090643A>C, NC_000002.11:g.73317771A>C

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