SNP Links for Gene (Select 80223) - SNP

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Select item 14915429241.

rs1491542924 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:37864931 (GRCh38)
8:37722449 (GRCh37)
Canonical SPDI:: NC_000008.11:37864930:CT:
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.37864931_37864932del, NC_000008.10:g.37722449_37722450del

Select item 14915156012.

rs1491515601 has merged into rs1404623085 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 8:37864950 (GRCh38)
8:37722468 (GRCh37)
Canonical SPDI:: NC_000008.11:37864947:CCCC:CC,NC_000008.11:37864947:CCCC:CCC,NC_000008.11:37864947:CCCC:CCCCC,NC_000008.11:37864947:CCCC:CCCCCC
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000008.11:g.37864950_37864951del, NC_000008.11:g.37864951del, NC_000008.11:g.37864951dup, NC_000008.11:g.37864950_37864951dup, NC_000008.10:g.37722468_37722469del, NC_000008.10:g.37722469del, NC_000008.10:g.37722469dup, NC_000008.10:g.37722468_37722469dup

Select item 14914210613.

rs1491421061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:37896496 (GRCh38)
8:37754015 (GRCh37)
Canonical SPDI:: NC_000008.11:37896496:G:GG
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37896497dup, NC_000008.10:g.37754015dup

Select item 14913700094.

rs1491370009 has merged into rs36034479 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:37880778 (GRCh38)
8:37738296 (GRCh37)
Canonical SPDI:: NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:37880767:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
A=0.007353/4 (NorthernSweden)
-=0.209265/1048 (1000Genomes)
HGVS:: NC_000008.11:g.37880778_37880785del, NC_000008.11:g.37880779_37880785del, NC_000008.11:g.37880780_37880785del, NC_000008.11:g.37880781_37880785del, NC_000008.11:g.37880783_37880785del, NC_000008.11:g.37880784_37880785del, NC_000008.11:g.37880785del, NC_000008.11:g.37880785dup, NC_000008.11:g.37880784_37880785dup, NC_000008.11:g.37880783_37880785dup, NC_000008.11:g.37880782_37880785dup, NC_000008.10:g.37738296_37738303del, NC_000008.10:g.37738297_37738303del, NC_000008.10:g.37738298_37738303del, NC_000008.10:g.37738299_37738303del, NC_000008.10:g.37738301_37738303del, NC_000008.10:g.37738302_37738303del, NC_000008.10:g.37738303del, NC_000008.10:g.37738303dup, NC_000008.10:g.37738302_37738303dup, NC_000008.10:g.37738301_37738303dup, NC_000008.10:g.37738300_37738303dup

Select item 14913448875.

rs1491344887 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:37896497 (GRCh38)
8:37754015 (GRCh37)
Canonical SPDI:: NC_000008.11:37896495:AGA:A
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37896497_37896498del, NC_000008.10:g.37754015_37754016del

Select item 14912438026.

rs1491243802 has merged into rs10544799 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:37864942 (GRCh38)
8:37722460 (GRCh37)
Canonical SPDI:: NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:37864931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1791/897 (1000Genomes)
HGVS:: NC_000008.11:g.37864942_37864947del, NC_000008.11:g.37864944_37864947del, NC_000008.11:g.37864945_37864947del, NC_000008.11:g.37864946_37864947del, NC_000008.11:g.37864947del, NC_000008.11:g.37864947dup, NC_000008.11:g.37864946_37864947dup, NC_000008.11:g.37864936_37864947dup, NC_000008.10:g.37722460_37722465del, NC_000008.10:g.37722462_37722465del, NC_000008.10:g.37722463_37722465del, NC_000008.10:g.37722464_37722465del, NC_000008.10:g.37722465del, NC_000008.10:g.37722465dup, NC_000008.10:g.37722464_37722465dup, NC_000008.10:g.37722454_37722465dup

Select item 14911592007.

rs1491159200 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:37864947 (GRCh38)
8:37722465 (GRCh37)
Canonical SPDI:: NC_000008.11:37864946:TC:
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00055/9 (ALFA)
HGVS:: NC_000008.11:g.37864947_37864948del, NC_000008.10:g.37722465_37722466del

Select item 14910937438.

rs1491093743 [Homo sapiens]

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

Select item 14910647339.

rs1491064733 has merged into rs10678344 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:37873886 (GRCh38)
8:37731404 (GRCh37)
Canonical SPDI:: NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:37873871:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
TG=0.17167/103 (NorthernSweden)
HGVS:: NC_000008.11:g.37873872TG[7], NC_000008.11:g.37873872TG[8], NC_000008.11:g.37873872TG[9], NC_000008.11:g.37873872TG[11], NC_000008.11:g.37873872TG[12], NC_000008.11:g.37873872TG[13], NC_000008.11:g.37873872TG[14], NC_000008.10:g.37731390TG[7], NC_000008.10:g.37731390TG[8], NC_000008.10:g.37731390TG[9], NC_000008.10:g.37731390TG[11], NC_000008.10:g.37731390TG[12], NC_000008.10:g.37731390TG[13], NC_000008.10:g.37731390TG[14]

Select item 149096681410.

rs1490966814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:37897400 (GRCh38)
8:37754918 (GRCh37)
Canonical SPDI:: NC_000008.11:37897399:T:C
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.37897400T>C, NC_000008.10:g.37754918T>C

Select item 149095761811.

rs1490957618 has merged into rs71216637 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:37895268 (GRCh38)
8:37752786 (GRCh37)
Canonical SPDI:: NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:37895259:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.37895268_37895293del, NC_000008.11:g.37895269_37895293del, NC_000008.11:g.37895270_37895293del, NC_000008.11:g.37895271_37895293del, NC_000008.11:g.37895272_37895293del, NC_000008.11:g.37895273_37895293del, NC_000008.11:g.37895274_37895293del, NC_000008.11:g.37895275_37895293del, NC_000008.11:g.37895276_37895293del, NC_000008.11:g.37895277_37895293del, NC_000008.11:g.37895278_37895293del, NC_000008.11:g.37895279_37895293del, NC_000008.11:g.37895280_37895293del, NC_000008.11:g.37895281_37895293del, NC_000008.11:g.37895282_37895293del, NC_000008.11:g.37895283_37895293del, NC_000008.11:g.37895284_37895293del, NC_000008.11:g.37895285_37895293del, NC_000008.11:g.37895286_37895293del, NC_000008.11:g.37895287_37895293del, NC_000008.11:g.37895288_37895293del, NC_000008.11:g.37895289_37895293del, NC_000008.11:g.37895290_37895293del, NC_000008.11:g.37895291_37895293del, NC_000008.11:g.37895292_37895293del, NC_000008.11:g.37895293del, NC_000008.11:g.37895293dup, NC_000008.11:g.37895292_37895293dup, NC_000008.11:g.37895291_37895293dup, NC_000008.11:g.37895289_37895293dup, NC_000008.11:g.37895288_37895293dup, NC_000008.11:g.37895287_37895293dup, NC_000008.10:g.37752786_37752811del, NC_000008.10:g.37752787_37752811del, NC_000008.10:g.37752788_37752811del, NC_000008.10:g.37752789_37752811del, NC_000008.10:g.37752790_37752811del, NC_000008.10:g.37752791_37752811del, NC_000008.10:g.37752792_37752811del, NC_000008.10:g.37752793_37752811del, NC_000008.10:g.37752794_37752811del, NC_000008.10:g.37752795_37752811del, NC_000008.10:g.37752796_37752811del, NC_000008.10:g.37752797_37752811del, NC_000008.10:g.37752798_37752811del, NC_000008.10:g.37752799_37752811del, NC_000008.10:g.37752800_37752811del, NC_000008.10:g.37752801_37752811del, NC_000008.10:g.37752802_37752811del, NC_000008.10:g.37752803_37752811del, NC_000008.10:g.37752804_37752811del, NC_000008.10:g.37752805_37752811del, NC_000008.10:g.37752806_37752811del, NC_000008.10:g.37752807_37752811del, NC_000008.10:g.37752808_37752811del, NC_000008.10:g.37752809_37752811del, NC_000008.10:g.37752810_37752811del, NC_000008.10:g.37752811del, NC_000008.10:g.37752811dup, NC_000008.10:g.37752810_37752811dup, NC_000008.10:g.37752809_37752811dup, NC_000008.10:g.37752807_37752811dup, NC_000008.10:g.37752806_37752811dup, NC_000008.10:g.37752805_37752811dup

Select item 149090274112.

rs1490902741 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:37894949 (GRCh38)
8:37752467 (GRCh37)
Canonical SPDI:: NC_000008.11:37894948:GGG:GG
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000008.11:g.37894951del, NC_000008.10:g.37752469del

Select item 149084365513.

rs1490843655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:37879500 (GRCh38)
8:37737018 (GRCh37)
Canonical SPDI:: NC_000008.11:37879499:G:A,NC_000008.11:37879499:G:T
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.37879500G>A, NC_000008.11:g.37879500G>T, NC_000008.10:g.37737018G>A, NC_000008.10:g.37737018G>T

Select item 149082171414.

rs1490821714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:37876831 (GRCh38)
8:37734349 (GRCh37)
Canonical SPDI:: NC_000008.11:37876830:G:A
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.37876831G>A, NC_000008.10:g.37734349G>A

Select item 149077974315.

rs1490779743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:37870559 (GRCh38)
8:37728077 (GRCh37)
Canonical SPDI:: NC_000008.11:37870558:C:A,NC_000008.11:37870558:C:G
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.37870559C>A, NC_000008.11:g.37870559C>G, NC_000008.10:g.37728077C>A, NC_000008.10:g.37728077C>G

Select item 149065465516.

rs1490654655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:37878950 (GRCh38)
8:37736468 (GRCh37)
Canonical SPDI:: NC_000008.11:37878949:T:C
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.37878950T>C, NC_000008.10:g.37736468T>C

Select item 149047574517.

rs1490475745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:37898504 (GRCh38)
8:37756022 (GRCh37)
Canonical SPDI:: NC_000008.11:37898503:T:G
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.37898504T>G, NC_000008.10:g.37756022T>G

Select item 149046368318.

rs1490463683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:37895725 (GRCh38)
8:37753243 (GRCh37)
Canonical SPDI:: NC_000008.11:37895724:A:G
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.37895725A>G, NC_000008.10:g.37753243A>G

Select item 149041193519.

rs1490411935 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATTTTTTTT>- [Show Flanks]
Chromosome:: 8:37895239 (GRCh38)
8:37752757 (GRCh37)
Canonical SPDI:: NC_000008.11:37895237:TATATATATATATATATATATATTTTTTTT:T
Gene:: RAB11FIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000136/2 (TOMMO)
HGVS:: NC_000008.11:g.37895239_37895267del, NC_000008.10:g.37752757_37752785del

Select item 149031339120.

rs1490313391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:37863637 (GRCh38)
8:37721155 (GRCh37)
Canonical SPDI:: NC_000008.11:37863636:G:C
Gene:: RAB11FIP1 (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_000008.11:g.37863637G>C, NC_000008.10:g.37721155G>C

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