SNP Links for Gene (Select 80307) - SNP

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Select item 14915555561.

rs1491555556 has merged into rs869150162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:35591488 (GRCh38)
20:34179410 (GRCh37)
Canonical SPDI:: NC_000020.11:35591486:TAT:T
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35591488_35591489del, NC_000020.10:g.34179410_34179411del

Select item 14915140892.

rs1491514089 has merged into rs374674875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA [Show Flanks]
Chromosome:: 20:35580716 (GRCh38)
20:34168638 (GRCh37)
Canonical SPDI:: NC_000020.11:35580714:AAAA:A,NC_000020.11:35580714:AAAA:AA,NC_000020.11:35580714:AAAA:AAA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.35580716_35580718del, NC_000020.11:g.35580717_35580718del, NC_000020.11:g.35580718del, NC_000020.10:g.34168638_34168640del, NC_000020.10:g.34168639_34168640del, NC_000020.10:g.34168640del, NR_001442.1:n.4560_4562del, NR_001442.1:n.4561_4562del, NR_001442.1:n.4562del

Select item 14914936693.

rs1491493669 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:35578139 (GRCh38)
20:34166061 (GRCh37)
Canonical SPDI:: NC_000020.11:35578138:TG:
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000020.11:g.35578139_35578140del, NC_000020.10:g.34166061_34166062del, NR_001442.1:n.7137_7138del

Select item 14914740984.

rs1491474098 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:35572120 (GRCh38)
20:34160046 (GRCh37)
Canonical SPDI:: NC_000020.11:35572118:TCT:T
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00116/19 (ALFA)
-=0.10569/2851 (TOMMO)
-=0.19056/327 (Korea1K)
HGVS:: NC_000020.11:g.35572120_35572121del, NC_000020.10:g.34160046_34160047del

Select item 14914627205.

rs1491462720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATA,AATATA [Show Flanks]
Chromosome:: 20:35580743 (GRCh38)
20:34168666 (GRCh37)
Canonical SPDI:: NC_000020.11:35580743:A:AAATA,NC_000020.11:35580743:A:AAATATA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAATATA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35580744_35580745insAATA, NC_000020.11:g.35580744_35580745insAATATA, NC_000020.10:g.34168666_34168667insAATA, NC_000020.10:g.34168666_34168667insAATATA, NR_001442.1:n.4533_4534insATTT, NR_001442.1:n.4533TA[2]TTT[1]

Select item 14914601306.

rs1491460130 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATATA [Show Flanks]
Chromosome:: 20:35572141 (GRCh38)
20:-1 (GRCh37)
Canonical SPDI:: NC_000020.11:35572141::A,NC_000020.11:35572141::ATA,NC_000020.11:35572141::ATATA,NC_000020.11:35572141::ATATATA,NC_000020.11:35572141::ATATATATA,NC_000020.11:35572141::ATATATATATATA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35572141_35572142insA, NC_000020.11:g.35572141_35572142insATA, NC_000020.11:g.35572141_35572142insATATA, NC_000020.11:g.35572141_35572142insATATATA, NC_000020.11:g.35572141_35572142insATATATATA, NC_000020.11:g.35572141_35572142insATATATATATATA

Select item 14913050237.

rs1491305023 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:35559525 (GRCh38)
20:34147293 (GRCh37)
Canonical SPDI:: NC_000020.11:35559525::T
Gene:: FER1L4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35559525_35559526insT, NC_000020.10:g.34147292_34147293insT, NR_001442.2:n.3406_3407insA, NR_119376.1:n.6115_6116insA, NR_024377.1:n.5980_5981insA, NM_025206.1:c.*1497_*1498insA

Select item 14912789248.

rs1491278924 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35568616 (GRCh38)
20:34156535 (GRCh37)
Canonical SPDI:: NC_000020.11:35568615:CA:
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01003/119 (ALFA)
-=0.001/28 (TOMMO)
HGVS:: NC_000020.11:g.35568616_35568617del, NC_000020.10:g.34156535_34156536del

Select item 14912555309.

rs1491255530 has merged into rs60583329 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 20:35570115 (GRCh38)
20:34158045 (GRCh37)
Canonical SPDI:: NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35570103:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0974/361 (TWINSUK)
-=0.0978/377 (ALSPAC)
-=0.1701/852 (1000Genomes)
HGVS:: NC_000020.11:g.35570115_35570119del, NC_000020.11:g.35570116_35570119del, NC_000020.11:g.35570117_35570119del, NC_000020.11:g.35570118_35570119del, NC_000020.11:g.35570119del, NC_000020.11:g.35570119dup, NC_000020.11:g.35570118_35570119dup, NC_000020.10:g.34158045_34158049del, NC_000020.10:g.34158046_34158049del, NC_000020.10:g.34158047_34158049del, NC_000020.10:g.34158048_34158049del, NC_000020.10:g.34158049del, NC_000020.10:g.34158049dup, NC_000020.10:g.34158048_34158049dup

Select item 149124823410.

rs1491248234 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:35560548 (GRCh38)
20:34148316 (GRCh37)
Canonical SPDI:: NC_000020.11:35560548:T:TT
Gene:: FER1L4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35560549dup, NC_000020.10:g.34148316dup, NR_001442.2:n.2383dup, NR_119376.1:n.5762dup, NR_024377.1:n.5667dup, NM_025206.1:c.*1184dup

Select item 149122792011.

rs1491227920 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:35592203 (GRCh38)
20:34180125 (GRCh37)
Canonical SPDI:: NC_000020.11:35592202:TA:
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.35592203_35592204del, NC_000020.10:g.34180125_34180126del

Select item 149121465712.

rs1491214657 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 20:35573710 (GRCh38)
20:34161633 (GRCh37)
Canonical SPDI:: NC_000020.11:35573710:AA:AATAA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AATAA=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.35573712_35573713insTAA, NC_000020.10:g.34161634_34161635insTAA

Select item 149121229613.

rs1491212296 has merged into rs34054963 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35592220 (GRCh38)
20:34180142 (GRCh37)
Canonical SPDI:: NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35592203:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35592220_35592224del, NC_000020.11:g.35592221_35592224del, NC_000020.11:g.35592222_35592224del, NC_000020.11:g.35592223_35592224del, NC_000020.11:g.35592224del, NC_000020.11:g.35592224dup, NC_000020.11:g.35592220_35592224dup, NC_000020.11:g.35592218_35592224dup, NC_000020.11:g.35592216_35592224dup, NC_000020.11:g.35592210_35592224dup, NC_000020.10:g.34180142_34180146del, NC_000020.10:g.34180143_34180146del, NC_000020.10:g.34180144_34180146del, NC_000020.10:g.34180145_34180146del, NC_000020.10:g.34180146del, NC_000020.10:g.34180146dup, NC_000020.10:g.34180142_34180146dup, NC_000020.10:g.34180140_34180146dup, NC_000020.10:g.34180138_34180146dup, NC_000020.10:g.34180132_34180146dup

Select item 149121178614.

rs1491211786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA,TATATATAA,TATATATATAA,TATATATATAAA [Show Flanks]
Chromosome:: 20:35580826 (GRCh38)
20:34168749 (GRCh37)
Canonical SPDI:: NC_000020.11:35580826:A:ATAAA,NC_000020.11:35580826:A:ATATATATAA,NC_000020.11:35580826:A:ATATATATATAA,NC_000020.11:35580826:A:ATATATATATAAA
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35580827_35580828insTAAA, NC_000020.11:g.35580827AT[4]AA[1], NC_000020.11:g.35580827AT[5]AA[1], NC_000020.11:g.35580827AT[5]AAA[1], NC_000020.10:g.34168749_34168750insTAAA, NC_000020.10:g.34168749AT[4]AA[1], NC_000020.10:g.34168749AT[5]AA[1], NC_000020.10:g.34168749AT[5]AAA[1], NR_001442.1:n.4450_4451insTTAT, NR_001442.1:n.4450_4451insTATATATAT, NR_001442.1:n.4450_4451insTATATATATAT, NR_001442.1:n.4450_4451insTTATATATATAT

Select item 149120684115.

rs1491206841 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:35560549 (GRCh38)
20:34148316 (GRCh37)
Canonical SPDI:: NC_000020.11:35560547:ATA:A
Gene:: FER1L4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35560549_35560550del, NC_000020.10:g.34148316_34148317del, NR_001442.2:n.2383_2384del, NR_119376.1:n.5762_5763del, NR_024377.1:n.5667_5668del, NM_025206.1:c.*1184_*1185del

Select item 149120132116.

rs1491201321 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:35559526 (GRCh38)
20:34147293 (GRCh37)
Canonical SPDI:: NC_000020.11:35559524:AGA:A
Gene:: FER1L4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35559526_35559527del, NC_000020.10:g.34147293_34147294del, NR_001442.2:n.3406_3407del, NR_119376.1:n.6115_6116del, NR_024377.1:n.5980_5981del, NM_025206.1:c.*1497_*1498del

Select item 149117344117.

rs1491173441 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAAAT,TAAT,TATAAT [Show Flanks]
Chromosome:: 20:35580715 (GRCh38)
20:34168638 (GRCh37)
Canonical SPDI:: NC_000020.11:35580715::T,NC_000020.11:35580715::TAAAAT,NC_000020.11:35580715::TAAT,NC_000020.11:35580715::TATAAT
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAAAT=0./0 (ALFA)
T=0.00782/10 (Korea1K)
T=0.00876/143 (TOMMO)
T=0.00928/202 (GnomAD)
HGVS:: NC_000020.11:g.35580715_35580716insT, NC_000020.11:g.35580715_35580716insTAAAAT, NC_000020.11:g.35580715_35580716insTAAT, NC_000020.11:g.35580715_35580716insTATAAT, NC_000020.10:g.34168637_34168638insT, NC_000020.10:g.34168637_34168638insTAAAAT, NC_000020.10:g.34168637_34168638insTAAT, NC_000020.10:g.34168637_34168638insTATAAT, NR_001442.1:n.4561_4562insA, NR_001442.1:n.4561_4562insATTTTA, NR_001442.1:n.4561_4562insATTA, NR_001442.1:n.4561_4562insATTATA

Select item 149115825218.

rs1491158252 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35570103 (GRCh38)
20:34158033 (GRCh37)
Canonical SPDI:: NC_000020.11:35570102:CA:
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000020.11:g.35570103_35570104del, NC_000020.10:g.34158033_34158034del

Select item 149115375819.

rs1491153758 has merged into rs869221063 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:35572151 (GRCh38)
20:34160075 (GRCh37)
Canonical SPDI:: NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35572140:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FER1L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.00058/1 (Korea1K)
HGVS:: NC_000020.11:g.35572151_35572168del, NC_000020.11:g.35572159_35572168del, NC_000020.11:g.35572160_35572168del, NC_000020.11:g.35572161_35572168del, NC_000020.11:g.35572162_35572168del, NC_000020.11:g.35572163_35572168del, NC_000020.11:g.35572164_35572168del, NC_000020.11:g.35572165_35572168del, NC_000020.11:g.35572166_35572168del, NC_000020.11:g.35572167_35572168del, NC_000020.11:g.35572168del, NC_000020.11:g.35572168dup, NC_000020.11:g.35572167_35572168dup, NC_000020.11:g.35572166_35572168dup, NC_000020.11:g.35572165_35572168dup, NC_000020.11:g.35572164_35572168dup, NC_000020.11:g.35572163_35572168dup, NC_000020.11:g.35572162_35572168dup, NC_000020.10:g.34160089_34160090dup, NC_000020.10:g.34160075_34160090del, NC_000020.10:g.34160083_34160090del, NC_000020.10:g.34160084_34160090del, NC_000020.10:g.34160085_34160090del, NC_000020.10:g.34160086_34160090del, NC_000020.10:g.34160087_34160090del, NC_000020.10:g.34160088_34160090del, NC_000020.10:g.34160089_34160090del, NC_000020.10:g.34160090del, NC_000020.10:g.34160090dup, NC_000020.10:g.34160088_34160090dup, NC_000020.10:g.34160087_34160090dup, NC_000020.10:g.34160086_34160090dup, NC_000020.10:g.34160085_34160090dup, NC_000020.10:g.34160084_34160090dup, NC_000020.10:g.34160083_34160090dup, NC_000020.10:g.34160082_34160090dup

Select item 149114476220.

rs1491144762 [Homo sapiens]

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

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