SNP Links for Gene (Select 440307) - SNP

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Select item 14915819461.

rs1491581946 has merged into rs1193273429 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 15:90256569 (GRCh38)
15:90799801 (GRCh37)
Canonical SPDI:: NC_000015.10:90256567:TCT:T,NC_000015.10:90256567:TCT:TCTCT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256569_90256570del, NC_000015.10:g.90256569_90256570dup, NC_000015.9:g.90799801_90799802del, NC_000015.9:g.90799801_90799802dup

Select item 14915581402.

rs1491558140 has merged into rs1555426811 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 15:90254201 (GRCh38)
15:90797433 (GRCh37)
Canonical SPDI:: NC_000015.10:90254188:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90254188:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90254188:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90254188:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90254188:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000015.10:g.90254201_90254202del, NC_000015.10:g.90254202del, NC_000015.10:g.90254202dup, NC_000015.10:g.90254201_90254202dup, NC_000015.10:g.90254196_90254202dup, NC_000015.9:g.90797433_90797434del, NC_000015.9:g.90797434del, NC_000015.9:g.90797434dup, NC_000015.9:g.90797433_90797434dup, NC_000015.9:g.90797428_90797434dup

Select item 14915574683.

rs1491557468 has merged into rs762146886 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 15:90256545 (GRCh38)
15:90799777 (GRCh37)
Canonical SPDI:: NC_000015.10:90256543:TTTTT:T,NC_000015.10:90256543:TTTTT:TT,NC_000015.10:90256543:TTTTT:TTT,NC_000015.10:90256543:TTTTT:TTTTTT,NC_000015.10:90256543:TTTTT:TTTTTTT,NC_000015.10:90256543:TTTTT:TTTTTTTT,NC_000015.10:90256543:TTTTT:TTTTTTTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000393/104 (TOPMED)
T=0.000519/2 (ALSPAC)
T=0.001348/5 (TWINSUK)
HGVS:: NC_000015.10:g.90256545_90256548del, NC_000015.10:g.90256546_90256548del, NC_000015.10:g.90256547_90256548del, NC_000015.10:g.90256548dup, NC_000015.10:g.90256547_90256548dup, NC_000015.10:g.90256546_90256548dup, NC_000015.10:g.90256545_90256548dup, NC_000015.9:g.90799777_90799780del, NC_000015.9:g.90799778_90799780del, NC_000015.9:g.90799779_90799780del, NC_000015.9:g.90799780dup, NC_000015.9:g.90799779_90799780dup, NC_000015.9:g.90799778_90799780dup, NC_000015.9:g.90799777_90799780dup

Select item 14915451434.

rs1491545143 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:90256592 (GRCh38)
15:90799825 (GRCh37)
Canonical SPDI:: NC_000015.10:90256592:C:CC
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256593dup, NC_000015.9:g.90799825dup

Select item 14915339805.

rs1491533980 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCTTTCTTTCTTT [Show Flanks]
Chromosome:: 15:90256593 (GRCh38)
15:90799826 (GRCh37)
Canonical SPDI:: NC_000015.10:90256593:TTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTTTCTTTCTTTCTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTTCTTTTTCTTTCTTTCTTT=0./0 (ALFA)
TTTCTTTCTTTCTT=0.00151/55 (GnomAD)
HGVS:: NC_000015.10:g.90256595_90256608dup, NC_000015.9:g.90799827_90799840dup

Select item 14915003186.

rs1491500318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:90256604 (GRCh38)
15:90799837 (GRCh37)
Canonical SPDI:: NC_000015.10:90256604:C:CC
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.90256605dup, NC_000015.9:g.90799837dup

Select item 14914688277.

rs1491468827 has merged into rs60109964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 15:90254208 (GRCh38)
15:90797440 (GRCh37)
Canonical SPDI:: NC_000015.10:90254202:AAAAAAAAAA:AAAAA,NC_000015.10:90254202:AAAAAAAAAA:AAAAAA,NC_000015.10:90254202:AAAAAAAAAA:AAAAAAA,NC_000015.10:90254202:AAAAAAAAAA:AAAAAAAA,NC_000015.10:90254202:AAAAAAAAAA:AAAAAAAAA,NC_000015.10:90254202:AAAAAAAAAA:AAAAAAAAAAA
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.90254208_90254212del, NC_000015.10:g.90254209_90254212del, NC_000015.10:g.90254210_90254212del, NC_000015.10:g.90254211_90254212del, NC_000015.10:g.90254212del, NC_000015.10:g.90254212dup, NC_000015.9:g.90797440_90797444del, NC_000015.9:g.90797441_90797444del, NC_000015.9:g.90797442_90797444del, NC_000015.9:g.90797443_90797444del, NC_000015.9:g.90797444del, NC_000015.9:g.90797444dup

Select item 14914438878.

rs1491443887 has merged into rs751736711 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:90256593 (GRCh38)
15:90799825 (GRCh37)
Canonical SPDI:: NC_000015.10:90256591:TCT:T
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/3 (ALFA)
-=0.00167/60 (GnomAD)
HGVS:: NC_000015.10:g.90256593_90256594del, NC_000015.9:g.90799825_90799826del

Select item 14914417449.

rs1491441744 has merged into rs1366894696 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 15:90256605 (GRCh38)
15:90799837 (GRCh37)
Canonical SPDI:: NC_000015.10:90256603:TCT:T,NC_000015.10:90256603:TCT:TCTCT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256605_90256606del, NC_000015.10:g.90256605_90256606dup, NC_000015.9:g.90799837_90799838del, NC_000015.9:g.90799837_90799838dup

Select item 149137723110.

rs1491377231 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:90256544 (GRCh38)
15:90799777 (GRCh37)
Canonical SPDI:: NC_000015.10:90256544::C
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000232/27 (GnomAD)
C=0.000552/1 (Korea1K)
HGVS:: NC_000015.10:g.90256544_90256545insC, NC_000015.9:g.90799776_90799777insC

Select item 149136550311.

rs1491365503 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 15:90256561 (GRCh38)
15:90799793 (GRCh37)
Canonical SPDI:: NC_000015.10:90256559:TCT:T,NC_000015.10:90256559:TCT:TCTCT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256561_90256562del, NC_000015.10:g.90256561_90256562dup, NC_000015.9:g.90799793_90799794del, NC_000015.9:g.90799793_90799794dup

Select item 149134841012.

rs1491348410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:90256560 (GRCh38)
15:90799793 (GRCh37)
Canonical SPDI:: NC_000015.10:90256560:C:CC
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.90256561dup, NC_000015.9:g.90799793dup

Select item 149134690613.

rs1491346906 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:90254202 (GRCh38)
15:90797434 (GRCh37)
Canonical SPDI:: NC_000015.10:90254201:TA:
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.022762/270 (ALFA)
-=0.040968/4200 (GnomAD)
HGVS:: NC_000015.10:g.90254202_90254203del, NC_000015.9:g.90797434_90797435del

Select item 149131591814.

rs1491315918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTC [Show Flanks]
Chromosome:: 15:90256602 (GRCh38)
15:90799835 (GRCh37)
Canonical SPDI:: NC_000015.10:90256602:TTC:TTCCTTC
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCCTTC=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.90256605_90256606insCTTC, NC_000015.9:g.90799837_90799838insCTTC

Select item 149127326315.

rs1491273263 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:90256641 (GRCh38)
15:90799873 (GRCh37)
Canonical SPDI:: NC_000015.10:90256639:TCT:T
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00447/53 (ALFA)
-=0.00297/11 (TWINSUK)
-=0.0035/343 (GnomAD)
-=0.00441/17 (ALSPAC)
HGVS:: NC_000015.10:g.90256641_90256642del, NC_000015.9:g.90799873_90799874del

Select item 149126311716.

rs1491263117 has merged into rs781558684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTATTT,TTT,TTTT [Show Flanks]
Chromosome:: 15:90256603 (GRCh38)
15:90799835 (GRCh37)
Canonical SPDI:: NC_000015.10:90256601:TTT:T,NC_000015.10:90256601:TTT:TT,NC_000015.10:90256601:TTT:TTTATTT,NC_000015.10:90256601:TTT:TTTT,NC_000015.10:90256601:TTT:TTTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256603_90256604del, NC_000015.10:g.90256604del, NC_000015.10:g.90256604_90256605insATTT, NC_000015.10:g.90256604dup, NC_000015.10:g.90256603_90256604dup, NC_000015.9:g.90799835_90799836del, NC_000015.9:g.90799836del, NC_000015.9:g.90799836_90799837insATTT, NC_000015.9:g.90799836dup, NC_000015.9:g.90799835_90799836dup

Select item 149125847017.

rs1491258470 has merged into rs1197950264 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 15:90256597 (GRCh38)
15:90799829 (GRCh37)
Canonical SPDI:: NC_000015.10:90256595:TCT:T,NC_000015.10:90256595:TCT:TCTCT,NC_000015.10:90256595:TCT:TCTCTCT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256597_90256598del, NC_000015.10:g.90256597_90256598dup, NC_000015.10:g.90256597CT[3], NC_000015.9:g.90799829_90799830del, NC_000015.9:g.90799829_90799830dup, NC_000015.9:g.90799829CT[3]

Select item 149125797518.

rs1491257975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTTC [Show Flanks]
Chromosome:: 15:90256564 (GRCh38)
15:90799797 (GRCh37)
Canonical SPDI:: NC_000015.10:90256564:CTTTCTTTC:CTTTCTTTCCTTTCTTTC
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCCTTTCTTTC=0./0 (ALFA)
HGVS:: NC_000015.10:g.90256565_90256573dup, NC_000015.9:g.90799797_90799805dup

Select item 149124759719.

rs1491247597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TCTCTTT,TCTTT,TCTTTCTCTTT,TCTTTCTTT,TCTTTCTTTCTCTTT,TCTTTCTTTCTTT [Show Flanks]
Chromosome:: 15:90256610 (GRCh38)
15:90799843 (GRCh37)
Canonical SPDI:: NC_000015.10:90256610:TT:TTT,NC_000015.10:90256610:TT:TTTCTCTTT,NC_000015.10:90256610:TT:TTTCTTT,NC_000015.10:90256610:TT:TTTCTTTCTCTTT,NC_000015.10:90256610:TT:TTTCTTTCTTT,NC_000015.10:90256610:TT:TTTCTTTCTTTCTCTTT,NC_000015.10:90256610:TT:TTTCTTTCTTTCTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.00076/9 (ALFA)
HGVS:: NC_000015.10:g.90256612dup, NC_000015.10:g.90256612_90256613insTCTCTTT, NC_000015.10:g.90256612_90256613insTCTTT, NC_000015.10:g.90256611_90256612TTTC[2]TCTTT[1], NC_000015.10:g.90256611_90256612TTTC[2]TTT[1], NC_000015.10:g.90256611_90256612TTTC[3]TCTTT[1], NC_000015.10:g.90256611_90256612TTTC[3]TTT[1], NC_000015.9:g.90799844dup, NC_000015.9:g.90799844_90799845insTCTCTTT, NC_000015.9:g.90799844_90799845insTCTTT, NC_000015.9:g.90799843_90799844TTTC[2]TCTTT[1], NC_000015.9:g.90799843_90799844TTTC[2]TTT[1], NC_000015.9:g.90799843_90799844TTTC[3]TCTTT[1], NC_000015.9:g.90799843_90799844TTTC[3]TTT[1]

Select item 149123632920.

rs1491236329 has merged into rs61582551 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 15:90256607 (GRCh38)
15:90799839 (GRCh37)
Canonical SPDI:: NC_000015.10:90256605:TTT:T,NC_000015.10:90256605:TTT:TT,NC_000015.10:90256605:TTT:TTTT,NC_000015.10:90256605:TTT:TTTTT
Gene:: CIB1 (Varview), TTLL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
-=0.000004/1 (TOPMED)
T=0.00027/1 (TWINSUK)
-=0.001106/2 (Korea1K)
HGVS:: NC_000015.10:g.90256607_90256608del, NC_000015.10:g.90256608del, NC_000015.10:g.90256608dup, NC_000015.10:g.90256607_90256608dup, NC_000015.9:g.90799839_90799840del, NC_000015.9:g.90799840del, NC_000015.9:g.90799840dup, NC_000015.9:g.90799839_90799840dup

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