SNP Links for Gene (Select 83856) - SNP

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Select item 14915094191.

rs1491509419 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:105453173 (GRCh38)
9:108215454 (GRCh37)
Canonical SPDI:: NC_000009.12:105453171:TAT:T
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.105453173_105453174del, NC_000009.11:g.108215454_108215455del

Select item 14914895742.

rs1491489574 [Homo sapiens]

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

Select item 14914296193.

rs1491429619 has merged into rs1286603987 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATTTT>-,AATTTTAATTTT [Show Flanks]
Chromosome:: 9:105453190 (GRCh38)
9:108215471 (GRCh37)
Canonical SPDI:: NC_000009.12:105453172:ATTTTAATTTTAATTTTAATTTT:ATTTTAATTTTAATTTT,NC_000009.12:105453172:ATTTTAATTTTAATTTTAATTTT:ATTTTAATTTTAATTTTAATTTTAATTTT
Gene:: FSD1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTTAATTTTAATTTTAATTTTAATTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.105453178AATTTT[2], NC_000009.12:g.105453178AATTTT[4], NC_000009.11:g.108215459AATTTT[2], NC_000009.11:g.108215459AATTTT[4]

Select item 14913949104.

rs1491394910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 9:105471722 (GRCh38)
9:108234004 (GRCh37)
Canonical SPDI:: NC_000009.12:105471722:T:TAT,NC_000009.12:105471722:T:TATAT,NC_000009.12:105471722:T:TATATAT,NC_000009.12:105471722:T:TATATATAT
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.105471723_105471724insAT, NC_000009.12:g.105471723_105471724insATAT, NC_000009.12:g.105471724AT[3], NC_000009.12:g.105471724AT[4], NC_000009.11:g.108234004_108234005insAT, NC_000009.11:g.108234004_108234005insATAT, NC_000009.11:g.108234005AT[3], NC_000009.11:g.108234005AT[4]

Select item 14913546995.

rs1491354699 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:105545589 (GRCh38)
9:108307871 (GRCh37)
Canonical SPDI:: NC_000009.12:105545589:T:TT
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.105545590dup, NC_000009.11:g.108307871dup

Select item 14913333826.

rs1491333382 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:105513121 (GRCh38)
9:108275402 (GRCh37)
Canonical SPDI:: NC_000009.12:105513120:CT:
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000427/6 (ALFA)
-=0.000328/46 (GnomAD)
-=0.000412/109 (TOPMED)
-=0.001249/6 (1000Genomes)
HGVS:: NC_000009.12:g.105513121_105513122del, NC_000009.11:g.108275402_108275403del

Select item 14913159607.

rs1491315960 has merged into rs60907043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 9:105502899 (GRCh38)
9:108265180 (GRCh37)
Canonical SPDI:: NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105502884:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.34565/1731 (1000Genomes)
HGVS:: NC_000009.12:g.105502899_105502902del, NC_000009.12:g.105502900_105502902del, NC_000009.12:g.105502901_105502902del, NC_000009.12:g.105502902del, NC_000009.12:g.105502902dup, NC_000009.12:g.105502901_105502902dup, NC_000009.12:g.105502900_105502902dup, NC_000009.11:g.108265180_108265183del, NC_000009.11:g.108265181_108265183del, NC_000009.11:g.108265182_108265183del, NC_000009.11:g.108265183del, NC_000009.11:g.108265183dup, NC_000009.11:g.108265182_108265183dup, NC_000009.11:g.108265181_108265183dup

Select item 14912507088.

rs1491250708 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 9:105498190 (GRCh38)
9:108260472 (GRCh37)
Canonical SPDI:: NC_000009.12:105498190::CTA
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTA=0./0 (ALFA)
HGVS:: NC_000009.12:g.105498190_105498191insCTA, NC_000009.11:g.108260471_108260472insCTA

Select item 14912449729.

rs1491244972 has merged into rs754896606 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:105533423 (GRCh38)
9:108295704 (GRCh37)
Canonical SPDI:: NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:105533416:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FSD1L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000009.12:g.105533423_105533440del, NC_000009.12:g.105533428_105533440del, NC_000009.12:g.105533430_105533440del, NC_000009.12:g.105533431_105533440del, NC_000009.12:g.105533432_105533440del, NC_000009.12:g.105533433_105533440del, NC_000009.12:g.105533434_105533440del, NC_000009.12:g.105533435_105533440del, NC_000009.12:g.105533436_105533440del, NC_000009.12:g.105533437_105533440del, NC_000009.12:g.105533438_105533440del, NC_000009.12:g.105533439_105533440del, NC_000009.12:g.105533440del, NC_000009.12:g.105533440dup, NC_000009.12:g.105533439_105533440dup, NC_000009.12:g.105533438_105533440dup, NC_000009.12:g.105533437_105533440dup, NC_000009.12:g.105533436_105533440dup, NC_000009.12:g.105533435_105533440dup, NC_000009.12:g.105533434_105533440dup, NC_000009.12:g.105533433_105533440dup, NC_000009.12:g.105533432_105533440dup, NC_000009.12:g.105533431_105533440dup, NC_000009.12:g.105533430_105533440dup, NC_000009.12:g.105533429_105533440dup, NC_000009.12:g.105533428_105533440dup, NC_000009.12:g.105533427_105533440dup, NC_000009.12:g.105533426_105533440dup, NC_000009.12:g.105533425_105533440dup, NC_000009.12:g.105533424_105533440dup, NC_000009.12:g.105533423_105533440dup, NC_000009.12:g.105533421_105533440dup, NC_000009.12:g.105533420_105533440dup, NC_000009.12:g.105533419_105533440dup, NC_000009.12:g.105533418_105533440dup, NC_000009.12:g.105533417_105533440dup, NC_000009.12:g.105533440_105533441insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.105533417_105533440T[53]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105533417_105533440T[56]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.105533440_105533441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.105533440_105533441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.105533440_105533441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.105533440_105533441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108295704_108295721del, NC_000009.11:g.108295709_108295721del, NC_000009.11:g.108295711_108295721del, NC_000009.11:g.108295712_108295721del, NC_000009.11:g.108295713_108295721del, NC_000009.11:g.108295714_108295721del, NC_000009.11:g.108295715_108295721del, NC_000009.11:g.108295716_108295721del, NC_000009.11:g.108295717_108295721del, NC_000009.11:g.108295718_108295721del, NC_000009.11:g.108295719_108295721del, NC_000009.11:g.108295720_108295721del, NC_000009.11:g.108295721del, NC_000009.11:g.108295721dup, NC_000009.11:g.108295720_108295721dup, NC_000009.11:g.108295719_108295721dup, NC_000009.11:g.108295718_108295721dup, NC_000009.11:g.108295717_108295721dup, NC_000009.11:g.108295716_108295721dup, NC_000009.11:g.108295715_108295721dup, NC_000009.11:g.108295714_108295721dup, NC_000009.11:g.108295713_108295721dup, NC_000009.11:g.108295712_108295721dup, NC_000009.11:g.108295711_108295721dup, NC_000009.11:g.108295710_108295721dup, NC_000009.11:g.108295709_108295721dup, NC_000009.11:g.108295708_108295721dup, NC_000009.11:g.108295707_108295721dup, NC_000009.11:g.108295706_108295721dup, NC_000009.11:g.108295705_108295721dup, NC_000009.11:g.108295704_108295721dup, NC_000009.11:g.108295702_108295721dup, NC_000009.11:g.108295701_108295721dup, NC_000009.11:g.108295700_108295721dup, NC_000009.11:g.108295699_108295721dup, NC_000009.11:g.108295698_108295721dup, NC_000009.11:g.108295721_108295722insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108295698_108295721T[53]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108295698_108295721T[56]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.108295721_108295722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108295721_108295722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108295721_108295722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.108295721_108295722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149119049510.

rs1491190495 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:105545591 (GRCh38)
9:108307872 (GRCh37)
Canonical SPDI:: NC_000009.12:105545588:ATAT:AT
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.105545589AT[1], NC_000009.11:g.108307870AT[1]

Select item 149107922011.

rs1491079220 has merged into rs199727073 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 9:105511203 (GRCh38)
9:108273484 (GRCh37)
Canonical SPDI:: NC_000009.12:105511192:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:105511192:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:105511192:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:105511192:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:105511192:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.07/42 (NorthernSweden)
T=0.2/8 (GENOME_DK)
T=0.23842/1194 (1000Genomes)
HGVS:: NC_000009.12:g.105511203_105511204del, NC_000009.12:g.105511204del, NC_000009.12:g.105511204dup, NC_000009.12:g.105511203_105511204dup, NC_000009.12:g.105511202_105511204dup, NC_000009.11:g.108273484_108273485del, NC_000009.11:g.108273485del, NC_000009.11:g.108273485dup, NC_000009.11:g.108273484_108273485dup, NC_000009.11:g.108273483_108273485dup

Select item 149106268312.

rs1491062683 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:105440558 (GRCh38)
9:108202839 (GRCh37)
Canonical SPDI:: NC_000009.12:105440556:ACA:A
Gene:: FSD1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.105440558_105440559del, NC_000009.11:g.108202839_108202840del

Select item 149099763513.

rs1490997635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:105515577 (GRCh38)
9:108277858 (GRCh37)
Canonical SPDI:: NC_000009.12:105515576:G:A
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.105515577G>A, NC_000009.11:g.108277858G>A

Select item 149096899014.

rs1490968990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:105451116 (GRCh38)
9:108213397 (GRCh37)
Canonical SPDI:: NC_000009.12:105451115:C:T
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.105451116C>T, NC_000009.11:g.108213397C>T

Select item 149091092015.

rs1490910920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:105537015 (GRCh38)
9:108299296 (GRCh37)
Canonical SPDI:: NC_000009.12:105537014:A:G
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.105537015A>G, NC_000009.11:g.108299296A>G

Select item 149089780916.

rs1490897809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:105531936 (GRCh38)
9:108294217 (GRCh37)
Canonical SPDI:: NC_000009.12:105531935:T:G
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.105531936T>G, NC_000009.11:g.108294217T>G

Select item 149086500217.

rs1490865002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:105471134 (GRCh38)
9:108233415 (GRCh37)
Canonical SPDI:: NC_000009.12:105471133:G:T
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000049/13 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.105471134G>T, NC_000009.11:g.108233415G>T

Select item 149086240818.

rs1490862408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:105516466 (GRCh38)
9:108278747 (GRCh37)
Canonical SPDI:: NC_000009.12:105516465:C:A
Gene:: FSD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.105516466C>A, NC_000009.11:g.108278747C>A

Select item 149084995719.

rs1490849957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:105473627 (GRCh38)
9:108235908 (GRCh37)
Canonical SPDI:: NC_000009.12:105473626:A:G
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.105473627A>G, NC_000009.11:g.108235908A>G

Select item 149082214820.

rs1490822148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:105482002 (GRCh38)
9:108244283 (GRCh37)
Canonical SPDI:: NC_000009.12:105482001:T:C
Gene:: FSD1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.105482002T>C, NC_000009.11:g.108244283T>C

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