SNP Links for Gene (Select 53349) - SNP

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Select item 14915734331.

rs1491573433 has merged into rs1207737817 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 14:73023327 (GRCh38)
14:73490035 (GRCh37)
Canonical SPDI:: NC_000014.9:73023322:ATATATAT:ATAT,NC_000014.9:73023322:ATATATAT:ATATAT,NC_000014.9:73023322:ATATATAT:ATATATATAT,NC_000014.9:73023322:ATATATAT:ATATATATATAT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0./0 (ALFA)
HGVS:: NC_000014.9:g.73023323AT[2], NC_000014.9:g.73023323AT[3], NC_000014.9:g.73023323AT[5], NC_000014.9:g.73023323AT[6], NC_000014.8:g.73490031AT[2], NC_000014.8:g.73490031AT[3], NC_000014.8:g.73490031AT[5], NC_000014.8:g.73490031AT[6]

Select item 14915567642.

rs1491556764 [Homo sapiens]

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

Select item 14915552753.

rs1491555275 has merged into rs1222197630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 14:73023248 (GRCh38)
14:73489956 (GRCh37)
Canonical SPDI:: NC_000014.9:73023241:ATATATATAT:ATATAT,NC_000014.9:73023241:ATATATATAT:ATATATAT,NC_000014.9:73023241:ATATATATAT:ATATATATATAT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000071/8 (GnomAD)
HGVS:: NC_000014.9:g.73023242AT[3], NC_000014.9:g.73023242AT[4], NC_000014.9:g.73023242AT[6], NC_000014.8:g.73489950AT[3], NC_000014.8:g.73489950AT[4], NC_000014.8:g.73489950AT[6]

Select item 14915529604.

rs1491552960 has merged into rs33940384 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 14:72986490 (GRCh38)
14:73453198 (GRCh37)
Canonical SPDI:: NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:72986475:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ZFYVE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4429/2218 (1000Genomes)
HGVS:: NC_000014.9:g.72986490_72986493del, NC_000014.9:g.72986491_72986493del, NC_000014.9:g.72986492_72986493del, NC_000014.9:g.72986493del, NC_000014.9:g.72986493dup, NC_000014.9:g.72986492_72986493dup, NC_000014.9:g.72986491_72986493dup, NC_000014.8:g.73453198_73453201del, NC_000014.8:g.73453199_73453201del, NC_000014.8:g.73453200_73453201del, NC_000014.8:g.73453201del, NC_000014.8:g.73453201dup, NC_000014.8:g.73453200_73453201dup, NC_000014.8:g.73453199_73453201dup

Select item 14915469595.

rs1491546959 has merged into rs141903540 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 14:73027643 (GRCh38)
14:73494351 (GRCh37)
Canonical SPDI:: NC_000014.9:73027642:TTTTT:TTTT,NC_000014.9:73027642:TTTTT:TTTTTT
Gene:: ZFYVE1 (Varview), RBM25-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00602/109 (ALFA)
-=0.00107/18 (TOMMO)
-=0.00681/34 (1000Genomes)
-=0.01161/52 (Estonian)
-=0.02647/102 (ALSPAC)
-=0.02906/29 (GoNL)
-=0.03/18 (NorthernSweden)
-=0.03074/114 (TWINSUK)
HGVS:: NC_000014.9:g.73027647del, NC_000014.9:g.73027647dup, NC_000014.8:g.73494355del, NC_000014.8:g.73494355dup

Select item 14915285556.

rs1491528555 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:73023295 (GRCh38)
14:73490003 (GRCh37)
Canonical SPDI:: NC_000014.9:73023294:AA:
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.73023295_73023296del, NC_000014.8:g.73490003_73490004del

Select item 14915278057.

rs1491527805 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 14:72992625 (GRCh38)
14:73459334 (GRCh37)
Canonical SPDI:: NC_000014.9:72992625:CC:CCACC
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: CCA=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.72992627_72992628insACC, NC_000014.8:g.73459335_73459336insACC

Select item 14915257128.

rs1491525712 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:73023349 (GRCh38)
14:73490057 (GRCh37)
Canonical SPDI:: NC_000014.9:73023348:AA:
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000014.9:g.73023349_73023350del, NC_000014.8:g.73490057_73490058del

Select item 14915123109.

rs1491512310 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGGAAGAGGGGAAGGAAGGGGGG,AAGGAAGGGGGG [Show Flanks]
Chromosome:: 14:73015404 (GRCh38)
14:73482113 (GRCh37)
Canonical SPDI:: NC_000014.9:73015404:GGGGGG:GGGGGGAAGGAAGAGGGGAAGGAAGGGGGG,NC_000014.9:73015404:GGGGGG:GGGGGGAAGGAAGGGGGG
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGAAGGAAGGGGGG=0./0 (ALFA)
GGGGGGAAGGAAGAGGGGAAGGAA=0.01307/4 (GnomAD)
HGVS:: NC_000014.9:g.73015405_73015410G[6]AAGGAAGAGGGGAAGGAAGGGGGG[1], NC_000014.9:g.73015405_73015410G[6]AAGG[2]G[4], NC_000014.8:g.73482113_73482118G[6]AAGGAAGAGGGGAAGGAAGGGGGG[1], NC_000014.8:g.73482113_73482118G[6]AAGG[2]G[4]

Select item 149147766210.

rs1491477662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC,GCC,TCC [Show Flanks]
Chromosome:: 14:72992616 (GRCh38)
14:73459325 (GRCh37)
Canonical SPDI:: NC_000014.9:72992616:CC:CCACC,NC_000014.9:72992616:CC:CCGCC,NC_000014.9:72992616:CC:CCTCC
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCC=0./0 (ALFA)
HGVS:: NC_000014.9:g.72992618_72992619insACC, NC_000014.9:g.72992618_72992619insGCC, NC_000014.9:g.72992618_72992619insTCC, NC_000014.8:g.73459326_73459327insACC, NC_000014.8:g.73459326_73459327insGCC, NC_000014.8:g.73459326_73459327insTCC

Select item 149147326111.

rs1491473261 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:72992628 (GRCh38)
14:73459336 (GRCh37)
Canonical SPDI:: NC_000014.9:72992627:CT:
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD)
-=0.02283/88 (ALSPAC)
-=0.02562/95 (TWINSUK)
HGVS:: NC_000014.9:g.72992628_72992629del, NC_000014.8:g.73459336_73459337del

Select item 149147032512.

rs1491470325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATGTTTTATATATAATATATA [Show Flanks]
Chromosome:: 14:73023252 (GRCh38)
14:73489961 (GRCh37)
Canonical SPDI:: NC_000014.9:73023252:ATATGTTTTATATATAATATATA:ATATGTTTTATATATAATATATAATATGTTTTATATATAATATATA
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: ATATGTTTTATATATAATATATA=0./0 (GnomAD)
HGVS:: NC_000014.9:g.73023253_73023275dup, NC_000014.8:g.73489961_73489983dup

Select item 149146523013.

rs1491465230 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72978566 (GRCh38)
14:73445274 (GRCh37)
Canonical SPDI:: NC_000014.9:72978565:CA:
Gene:: ZFYVE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.72978566_72978567del, NC_000014.8:g.73445274_73445275del

Select item 149144753814.

rs1491447538 has merged into rs1491038035 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC [Show Flanks]
Chromosome:: 14:72992627 (GRCh38)
14:73459335 (GRCh37)
Canonical SPDI:: NC_000014.9:72992624:CCCC:CC,NC_000014.9:72992624:CCCC:CCCCC
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000014.9:g.72992627_72992628del, NC_000014.9:g.72992628dup, NC_000014.8:g.73459335_73459336del, NC_000014.8:g.73459336dup

Select item 149140789815.

rs1491407898 has merged into rs566223211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 14:73023253 (GRCh38)
14:73489961 (GRCh37)
Canonical SPDI:: NC_000014.9:73023251:TATAT:T,NC_000014.9:73023251:TATAT:TAT,NC_000014.9:73023251:TATAT:TATATAT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.02316/116 (1000Genomes)
HGVS:: NC_000014.9:g.73023253_73023256del, NC_000014.9:g.73023253AT[1], NC_000014.9:g.73023253AT[3], NC_000014.8:g.73489961_73489964del, NC_000014.8:g.73489961AT[1], NC_000014.8:g.73489961AT[3]

Select item 149140135216.

rs1491401352 has merged into rs1401271553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 14:73023354 (GRCh38)
14:73490062 (GRCh37)
Canonical SPDI:: NC_000014.9:73023349:ATATATAT:ATAT,NC_000014.9:73023349:ATATATAT:ATATAT,NC_000014.9:73023349:ATATATAT:ATATATATAT,NC_000014.9:73023349:ATATATAT:ATATATATATAT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AT=0.00006/1 (TOMMO)
HGVS:: NC_000014.9:g.73023350AT[2], NC_000014.9:g.73023350AT[3], NC_000014.9:g.73023350AT[5], NC_000014.9:g.73023350AT[6], NC_000014.8:g.73490058AT[2], NC_000014.8:g.73490058AT[3], NC_000014.8:g.73490058AT[5], NC_000014.8:g.73490058AT[6]

Select item 149138726517.

rs1491387265 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTAT [Show Flanks]
Chromosome:: 14:73023268 (GRCh38)
14:73489977 (GRCh37)
Canonical SPDI:: NC_000014.9:73023268::TTAT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTAT=0./0 (ALFA)
HGVS:: NC_000014.9:g.73023268_73023269insTTAT, NC_000014.8:g.73489976_73489977insTTAT

Select item 149137646518.

rs1491376465 has merged into rs532732428 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:73002749 (GRCh38)
14:73469457 (GRCh37)
Canonical SPDI:: NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73002741:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.287141/1438 (1000Genomes)
HGVS:: NC_000014.9:g.73002749_73002757del, NC_000014.9:g.73002751_73002757del, NC_000014.9:g.73002752_73002757del, NC_000014.9:g.73002755_73002757del, NC_000014.9:g.73002756_73002757del, NC_000014.9:g.73002757del, NC_000014.9:g.73002757dup, NC_000014.9:g.73002756_73002757dup, NC_000014.9:g.73002755_73002757dup, NC_000014.9:g.73002754_73002757dup, NC_000014.9:g.73002751_73002757dup, NC_000014.8:g.73469457_73469465del, NC_000014.8:g.73469459_73469465del, NC_000014.8:g.73469460_73469465del, NC_000014.8:g.73469463_73469465del, NC_000014.8:g.73469464_73469465del, NC_000014.8:g.73469465del, NC_000014.8:g.73469465dup, NC_000014.8:g.73469464_73469465dup, NC_000014.8:g.73469463_73469465dup, NC_000014.8:g.73469462_73469465dup, NC_000014.8:g.73469459_73469465dup

Select item 149135278119.

rs1491352781 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:73023431 (GRCh38)
14:73490139 (GRCh37)
Canonical SPDI:: NC_000014.9:73023430:TT:
Gene:: ZFYVE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.73023431_73023432del, NC_000014.8:g.73490139_73490140del

Select item 149131544520.

rs1491315445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATT,TATT,TATTTATT,TATTTATTTATT [Show Flanks]
Chromosome:: 14:72980532 (GRCh38)
14:73447241 (GRCh37)
Canonical SPDI:: NC_000014.9:72980532:ATT:ATTGATT,NC_000014.9:72980532:ATT:ATTTATT,NC_000014.9:72980532:ATT:ATTTATTTATT,NC_000014.9:72980532:ATT:ATTTATTTATTTATT
Gene:: ZFYVE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATT=0./0 (ALFA)
ATTT=0.00001/1 (GnomAD)
HGVS:: NC_000014.9:g.72980535_72980536insGATT, NC_000014.9:g.72980535_72980536insTATT, NC_000014.9:g.72980535_72980536insTATTTATT, NC_000014.9:g.72980536TATT[3], NC_000014.8:g.73447243_73447244insGATT, NC_000014.8:g.73447243_73447244insTATT, NC_000014.8:g.73447243_73447244insTATTTATT, NC_000014.8:g.73447244TATT[3]

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