SNP Links for Gene (Select 25790) - SNP

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Select item 14912021031.

rs1491202103 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA,TACA,TATACA,TATATACA,TATATATACA,TATATATATATATACA [Show Flanks]
Chromosome:: 1:159883653 (GRCh38)
1:159853444 (GRCh37)
Canonical SPDI:: NC_000001.11:159883653:A:AGA,NC_000001.11:159883653:A:ATACA,NC_000001.11:159883653:A:ATATACA,NC_000001.11:159883653:A:ATATATACA,NC_000001.11:159883653:A:ATATATATACA,NC_000001.11:159883653:A:ATATATATATATATACA
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACA=0./0 (ALFA)
ATATATATAC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.159883654_159883655insGA, NC_000001.11:g.159883654_159883655insTACA, NC_000001.11:g.159883654AT[2]ACA[1], NC_000001.11:g.159883654AT[3]ACA[1], NC_000001.11:g.159883654AT[4]ACA[1], NC_000001.11:g.159883654AT[7]ACA[1], NC_000001.10:g.159853444_159853445insGA, NC_000001.10:g.159853444_159853445insTACA, NC_000001.10:g.159853444AT[2]ACA[1], NC_000001.10:g.159853444AT[3]ACA[1], NC_000001.10:g.159853444AT[4]ACA[1], NC_000001.10:g.159853444AT[7]ACA[1]

Select item 14910606172.

rs1491060617 has merged into rs57828010 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:159899471 (GRCh38)
1:159869261 (GRCh37)
Canonical SPDI:: NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:159899462:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFAP45 (Varview), MIR4259 (Varview), LOC124904435 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.4862/2435 (1000Genomes)
HGVS:: NC_000001.11:g.159899471_159899485del, NC_000001.11:g.159899472_159899485del, NC_000001.11:g.159899474_159899485del, NC_000001.11:g.159899475_159899485del, NC_000001.11:g.159899478_159899485del, NC_000001.11:g.159899480_159899485del, NC_000001.11:g.159899482_159899485del, NC_000001.11:g.159899483_159899485del, NC_000001.11:g.159899484_159899485del, NC_000001.11:g.159899485del, NC_000001.11:g.159899485dup, NC_000001.11:g.159899484_159899485dup, NC_000001.11:g.159899483_159899485dup, NC_000001.11:g.159899482_159899485dup, NC_000001.11:g.159899481_159899485dup, NC_000001.11:g.159899480_159899485dup, NC_000001.11:g.159899479_159899485dup, NC_000001.10:g.159869261_159869275del, NC_000001.10:g.159869262_159869275del, NC_000001.10:g.159869264_159869275del, NC_000001.10:g.159869265_159869275del, NC_000001.10:g.159869268_159869275del, NC_000001.10:g.159869270_159869275del, NC_000001.10:g.159869272_159869275del, NC_000001.10:g.159869273_159869275del, NC_000001.10:g.159869274_159869275del, NC_000001.10:g.159869275del, NC_000001.10:g.159869275dup, NC_000001.10:g.159869274_159869275dup, NC_000001.10:g.159869273_159869275dup, NC_000001.10:g.159869272_159869275dup, NC_000001.10:g.159869271_159869275dup, NC_000001.10:g.159869270_159869275dup, NC_000001.10:g.159869269_159869275dup

Select item 14909682353.

rs1490968235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:159896082 (GRCh38)
1:159865872 (GRCh37)
Canonical SPDI:: NC_000001.11:159896081:C:A,NC_000001.11:159896081:C:G,NC_000001.11:159896081:C:T
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.159896082C>A, NC_000001.11:g.159896082C>G, NC_000001.11:g.159896082C>T, NC_000001.10:g.159865872C>A, NC_000001.10:g.159865872C>G, NC_000001.10:g.159865872C>T

Select item 14909655784.

rs1490965578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:159878975 (GRCh38)
1:159848765 (GRCh37)
Canonical SPDI:: NC_000001.11:159878974:A:T
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159878975A>T, NC_000001.10:g.159848765A>T

Select item 14909580045.

rs1490958004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159888055 (GRCh38)
1:159857845 (GRCh37)
Canonical SPDI:: NC_000001.11:159888054:C:T
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.159888055C>T, NC_000001.10:g.159857845C>T

Select item 14907328066.

rs1490732806 [Homo sapiens]

Variant type:: DEL
Alleles:: GCT>- [Show Flanks]
Chromosome:: 1:159895730 (GRCh38)
1:159865520 (GRCh37)
Canonical SPDI:: NC_000001.11:159895729:GCT:
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159895730_159895732del, NC_000001.10:g.159865520_159865522del

Select item 14905123567.

rs1490512356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159880093 (GRCh38)
1:159849883 (GRCh37)
Canonical SPDI:: NC_000001.11:159880092:T:C
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.159880093T>C, NC_000001.10:g.159849883T>C

Select item 14902063948.

rs1490206394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:159894466 (GRCh38)
1:159864256 (GRCh37)
Canonical SPDI:: NC_000001.11:159894465:A:T
Gene:: CFAP45 (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.159894466A>T, NC_000001.10:g.159864256A>T

Select item 14901475749.

rs1490147574 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:159877983 (GRCh38)
1:159847773 (GRCh37)
Canonical SPDI:: NC_000001.11:159877982:CC:C
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159877984del, NC_000001.10:g.159847774del

Select item 149013939210.

rs1490139392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159880512 (GRCh38)
1:159850302 (GRCh37)
Canonical SPDI:: NC_000001.11:159880511:C:T
Gene:: CFAP45 (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.159880512C>T, NC_000001.10:g.159850302C>T

Select item 148991747011.

rs1489917470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:159880129 (GRCh38)
1:159849919 (GRCh37)
Canonical SPDI:: NC_000001.11:159880128:C:G
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00009/1 (ALFA)
HGVS:: NC_000001.11:g.159880129C>G, NC_000001.10:g.159849919C>G

Select item 148989658112.

rs1489896581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159897133 (GRCh38)
1:159866923 (GRCh37)
Canonical SPDI:: NC_000001.11:159897132:G:A
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000015/4 (TOPMED)
A=0.00005/7 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000001.11:g.159897133G>A, NC_000001.10:g.159866923G>A

Select item 148976159513.

rs1489761595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159876011 (GRCh38)
1:159845801 (GRCh37)
Canonical SPDI:: NC_000001.11:159876010:C:T
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.159876011C>T, NC_000001.10:g.159845801C>T

Select item 148971254114.

rs1489712541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159877389 (GRCh38)
1:159847179 (GRCh37)
Canonical SPDI:: NC_000001.11:159877388:C:T
Gene:: CFAP45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.159877389C>T, NC_000001.10:g.159847179C>T, NM_012337.3:c.1118G>A, NM_012337.2:c.1118G>A, NP_036469.2:p.Arg373Lys

Select item 148968697615.

rs1489686976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159881621 (GRCh38)
1:159851411 (GRCh37)
Canonical SPDI:: NC_000001.11:159881620:G:A
Gene:: CFAP45 (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.159881621G>A, NC_000001.10:g.159851411G>A

Select item 148963514316.

rs1489635143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:159893901 (GRCh38)
1:159863691 (GRCh37)
Canonical SPDI:: NC_000001.11:159893900:A:G
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.159893901A>G, NC_000001.10:g.159863691A>G

Select item 148960886117.

rs1489608861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159878370 (GRCh38)
1:159848160 (GRCh37)
Canonical SPDI:: NC_000001.11:159878369:C:T
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.159878370C>T, NC_000001.10:g.159848160C>T

Select item 148940686518.

rs1489406865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159892706 (GRCh38)
1:159862496 (GRCh37)
Canonical SPDI:: NC_000001.11:159892705:T:C
Gene:: CFAP45 (Varview), LOC124904434 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.159892706T>C, NC_000001.10:g.159862496T>C, XR_007066677.1:n.546T>C

Select item 148934550619.

rs1489345506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159894831 (GRCh38)
1:159864621 (GRCh37)
Canonical SPDI:: NC_000001.11:159894830:G:A
Gene:: CFAP45 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000001.11:g.159894831G>A, NC_000001.10:g.159864621G>A

Select item 148928450420.

rs1489284504 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:159876661 (GRCh38)
1:159846451 (GRCh37)
Canonical SPDI:: NC_000001.11:159876660:G:
Gene:: CFAP45 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.159876661del, NC_000001.10:g.159846451del, NM_012337.3:c.1247del, NM_012337.2:c.1247del, NP_036469.2:p.Thr416fs

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