SNP Links for Gene (Select 203522) - SNP

Links from Gene

Items: 1 to 20 of 8204

<< First< Prev

Page of 411

Next >Last >>

Select item 14915086881.

rs1491508688 has merged into rs1162273649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:135553491 (GRCh38)
X:134687416 (GRCh37)
Canonical SPDI:: NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135553481:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.135553491_135553504del, NC_000023.11:g.135553497_135553504del, NC_000023.11:g.135553499_135553504del, NC_000023.11:g.135553500_135553504del, NC_000023.11:g.135553501_135553504del, NC_000023.11:g.135553502_135553504del, NC_000023.11:g.135553503_135553504del, NC_000023.11:g.135553504del, NC_000023.11:g.135553504dup, NC_000023.11:g.135553503_135553504dup, NC_000023.11:g.135553501_135553504dup, NC_000023.10:g.134687416_134687429del, NC_000023.10:g.134687422_134687429del, NC_000023.10:g.134687424_134687429del, NC_000023.10:g.134687425_134687429del, NC_000023.10:g.134687426_134687429del, NC_000023.10:g.134687427_134687429del, NC_000023.10:g.134687428_134687429del, NC_000023.10:g.134687429del, NC_000023.10:g.134687429dup, NC_000023.10:g.134687428_134687429dup, NC_000023.10:g.134687426_134687429dup, NG_055290.1:g.37866_37879del, NG_055290.1:g.37872_37879del, NG_055290.1:g.37874_37879del, NG_055290.1:g.37875_37879del, NG_055290.1:g.37876_37879del, NG_055290.1:g.37877_37879del, NG_055290.1:g.37878_37879del, NG_055290.1:g.37879del, NG_055290.1:g.37879dup, NG_055290.1:g.37878_37879dup, NG_055290.1:g.37876_37879dup, NW_004070887.1:g.484634_484647del, NW_004070887.1:g.484640_484647del, NW_004070887.1:g.484642_484647del, NW_004070887.1:g.484643_484647del, NW_004070887.1:g.484644_484647del, NW_004070887.1:g.484645_484647del, NW_004070887.1:g.484646_484647del, NW_004070887.1:g.484647del, NW_004070887.1:g.484647dup, NW_004070887.1:g.484646_484647dup, NW_004070887.1:g.484644_484647dup

Select item 14913182232.

rs1491318223 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:135523402 (GRCh38)
X:134657327 (GRCh37)
Canonical SPDI:: NC_000023.11:135523401:CA:
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.135523402_135523403del, NC_000023.10:g.134657327_134657328del, NG_055290.1:g.7777_7778del, NW_004070887.1:g.454545_454546del

Select item 14910841973.

rs1491084197 has merged into rs112666496 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: X:135564744 (GRCh38)
X:134698669 (GRCh37)
Canonical SPDI:: NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:135564731:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4731/1786 (1000Genomes)
HGVS:: NC_000023.11:g.135564744_135564745del, NC_000023.11:g.135564745del, NC_000023.11:g.135564745dup, NC_000023.11:g.135564744_135564745dup, NC_000023.11:g.135564743_135564745dup, NC_000023.11:g.135564742_135564745dup, NC_000023.11:g.135564740_135564745dup, NC_000023.10:g.134698669_134698670del, NC_000023.10:g.134698670del, NC_000023.10:g.134698670dup, NC_000023.10:g.134698669_134698670dup, NC_000023.10:g.134698668_134698670dup, NC_000023.10:g.134698667_134698670dup, NC_000023.10:g.134698665_134698670dup, NG_055290.1:g.49119_49120del, NG_055290.1:g.49120del, NG_055290.1:g.49120dup, NG_055290.1:g.49119_49120dup, NG_055290.1:g.49118_49120dup, NG_055290.1:g.49117_49120dup, NG_055290.1:g.49115_49120dup, NW_004070887.1:g.495887_495888del, NW_004070887.1:g.495888del, NW_004070887.1:g.495888dup, NW_004070887.1:g.495887_495888dup, NW_004070887.1:g.495886_495888dup, NW_004070887.1:g.495885_495888dup, NW_004070887.1:g.495883_495888dup

Select item 14910274334.

rs1491027433 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:135575810 (GRCh38)
X:134709735 (GRCh37)
Canonical SPDI:: NC_000023.11:135575808:TAT:T
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000023.11:g.135575810_135575811del, NC_000023.10:g.134709735_134709736del, NG_055290.1:g.60185_60186del, NW_004070887.1:g.506953_506954del

Select item 14910138705.

rs1491013870 has merged into rs1556493044 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG,AGAGAGAGAG [Show Flanks]
Chromosome:: X:135519098 (GRCh38)
X:134653023 (GRCh37)
Canonical SPDI:: NC_000023.11:135519079:AGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000023.11:135519079:AGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000023.11:135519079:AGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000023.11:135519079:AGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000023.11:135519079:AGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: INTS6L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000023.11:g.135519080AG[9], NC_000023.11:g.135519080AG[10], NC_000023.11:g.135519080AG[11], NC_000023.11:g.135519080AG[13], NC_000023.11:g.135519080AG[14], NC_000023.10:g.134653005AG[9], NC_000023.10:g.134653005AG[10], NC_000023.10:g.134653005AG[11], NC_000023.10:g.134653005AG[13], NC_000023.10:g.134653005AG[14], NG_055290.1:g.3455AG[9], NG_055290.1:g.3455AG[10], NG_055290.1:g.3455AG[11], NG_055290.1:g.3455AG[13], NG_055290.1:g.3455AG[14], NW_004070887.1:g.450223AG[9], NW_004070887.1:g.450223AG[10], NW_004070887.1:g.450223AG[11], NW_004070887.1:g.450223AG[13], NW_004070887.1:g.450223AG[14]

Select item 14909940916.

rs1490994091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135575543 (GRCh38)
X:134709468 (GRCh37)
Canonical SPDI:: NC_000023.11:135575542:C:T
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135575543C>T, NC_000023.10:g.134709468C>T, NG_055290.1:g.59918C>T, NW_004070887.1:g.506686C>T

Select item 14909325897.

rs1490932589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135551256 (GRCh38)
X:134685181 (GRCh37)
Canonical SPDI:: NC_000023.11:135551255:T:G
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135551256T>G, NC_000023.10:g.134685181T>G, NG_055290.1:g.35631T>G, NW_004070887.1:g.482399T>G

Select item 14909142498.

rs1490914249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135525069 (GRCh38)
X:134658994 (GRCh37)
Canonical SPDI:: NC_000023.11:135525068:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135525069A>G, NC_000023.10:g.134658994A>G, NG_055290.1:g.9444A>G, NW_004070887.1:g.456212A>G

Select item 14908630639.

rs1490863063 has merged into rs782434658 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:135523413 (GRCh38)
X:134657338 (GRCh37)
Canonical SPDI:: NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:135523402:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000023.11:g.135523413_135523427del, NC_000023.11:g.135523414_135523427del, NC_000023.11:g.135523415_135523427del, NC_000023.11:g.135523416_135523427del, NC_000023.11:g.135523417_135523427del, NC_000023.11:g.135523418_135523427del, NC_000023.11:g.135523419_135523427del, NC_000023.11:g.135523420_135523427del, NC_000023.11:g.135523421_135523427del, NC_000023.11:g.135523422_135523427del, NC_000023.11:g.135523423_135523427del, NC_000023.11:g.135523424_135523427del, NC_000023.11:g.135523425_135523427del, NC_000023.11:g.135523426_135523427del, NC_000023.11:g.135523427del, NC_000023.11:g.135523427dup, NC_000023.11:g.135523426_135523427dup, NC_000023.11:g.135523425_135523427dup, NC_000023.11:g.135523424_135523427dup, NC_000023.11:g.135523423_135523427dup, NC_000023.11:g.135523422_135523427dup, NC_000023.11:g.135523421_135523427dup, NC_000023.11:g.135523420_135523427dup, NC_000023.11:g.135523419_135523427dup, NC_000023.11:g.135523417_135523427dup, NC_000023.11:g.135523427_135523428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.135523427_135523428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.134657338_134657352del, NC_000023.10:g.134657339_134657352del, NC_000023.10:g.134657340_134657352del, NC_000023.10:g.134657341_134657352del, NC_000023.10:g.134657342_134657352del, NC_000023.10:g.134657343_134657352del, NC_000023.10:g.134657344_134657352del, NC_000023.10:g.134657345_134657352del, NC_000023.10:g.134657346_134657352del, NC_000023.10:g.134657347_134657352del, NC_000023.10:g.134657348_134657352del, NC_000023.10:g.134657349_134657352del, NC_000023.10:g.134657350_134657352del, NC_000023.10:g.134657351_134657352del, NC_000023.10:g.134657352del, NC_000023.10:g.134657352dup, NC_000023.10:g.134657351_134657352dup, NC_000023.10:g.134657350_134657352dup, NC_000023.10:g.134657349_134657352dup, NC_000023.10:g.134657348_134657352dup, NC_000023.10:g.134657347_134657352dup, NC_000023.10:g.134657346_134657352dup, NC_000023.10:g.134657345_134657352dup, NC_000023.10:g.134657344_134657352dup, NC_000023.10:g.134657342_134657352dup, NC_000023.10:g.134657352_134657353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.134657352_134657353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_055290.1:g.7788_7802del, NG_055290.1:g.7789_7802del, NG_055290.1:g.7790_7802del, NG_055290.1:g.7791_7802del, NG_055290.1:g.7792_7802del, NG_055290.1:g.7793_7802del, NG_055290.1:g.7794_7802del, NG_055290.1:g.7795_7802del, NG_055290.1:g.7796_7802del, NG_055290.1:g.7797_7802del, NG_055290.1:g.7798_7802del, NG_055290.1:g.7799_7802del, NG_055290.1:g.7800_7802del, NG_055290.1:g.7801_7802del, NG_055290.1:g.7802del, NG_055290.1:g.7802dup, NG_055290.1:g.7801_7802dup, NG_055290.1:g.7800_7802dup, NG_055290.1:g.7799_7802dup, NG_055290.1:g.7798_7802dup, NG_055290.1:g.7797_7802dup, NG_055290.1:g.7796_7802dup, NG_055290.1:g.7795_7802dup, NG_055290.1:g.7794_7802dup, NG_055290.1:g.7792_7802dup, NG_055290.1:g.7802_7803insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_055290.1:g.7802_7803insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070887.1:g.454556_454570del, NW_004070887.1:g.454557_454570del, NW_004070887.1:g.454558_454570del, NW_004070887.1:g.454559_454570del, NW_004070887.1:g.454560_454570del, NW_004070887.1:g.454561_454570del, NW_004070887.1:g.454562_454570del, NW_004070887.1:g.454563_454570del, NW_004070887.1:g.454564_454570del, NW_004070887.1:g.454565_454570del, NW_004070887.1:g.454566_454570del, NW_004070887.1:g.454567_454570del, NW_004070887.1:g.454568_454570del, NW_004070887.1:g.454569_454570del, NW_004070887.1:g.454570del, NW_004070887.1:g.454570dup, NW_004070887.1:g.454569_454570dup, NW_004070887.1:g.454568_454570dup, NW_004070887.1:g.454567_454570dup, NW_004070887.1:g.454566_454570dup, NW_004070887.1:g.454565_454570dup, NW_004070887.1:g.454564_454570dup, NW_004070887.1:g.454563_454570dup, NW_004070887.1:g.454562_454570dup, NW_004070887.1:g.454560_454570dup, NW_004070887.1:g.454570_454571insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_004070887.1:g.454570_454571insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149080860710.

rs1490808607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135538609 (GRCh38)
X:134672534 (GRCh37)
Canonical SPDI:: NC_000023.11:135538608:C:T
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.135538609C>T, NC_000023.10:g.134672534C>T, NG_055290.1:g.22984C>T, NW_004070887.1:g.469752C>T

Select item 149077210311.

rs1490772103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135536705 (GRCh38)
X:134670630 (GRCh37)
Canonical SPDI:: NC_000023.11:135536704:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135536705T>C, NC_000023.10:g.134670630T>C, NG_055290.1:g.21080T>C, NW_004070887.1:g.467848T>C

Select item 149069741512.

rs1490697415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135576743 (GRCh38)
X:134710668 (GRCh37)
Canonical SPDI:: NC_000023.11:135576742:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135576743A>G, NC_000023.10:g.134710668A>G, NG_055290.1:g.61118A>G, NW_004070887.1:g.507886A>G

Select item 149055137113.

rs1490551371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135562254 (GRCh38)
X:134696179 (GRCh37)
Canonical SPDI:: NC_000023.11:135562253:A:T
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135562254A>T, NC_000023.10:g.134696179A>T, NG_055290.1:g.46629A>T, NW_004070887.1:g.493397A>T

Select item 149051543714.

rs1490515437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:135562089 (GRCh38)
X:134696014 (GRCh37)
Canonical SPDI:: NC_000023.11:135562088:T:C,NC_000023.11:135562088:T:G
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135562089T>C, NC_000023.11:g.135562089T>G, NC_000023.10:g.134696014T>C, NC_000023.10:g.134696014T>G, NG_055290.1:g.46464T>C, NG_055290.1:g.46464T>G, NW_004070887.1:g.493232T>C, NW_004070887.1:g.493232T>G

Select item 149050443815.

rs1490504438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135576124 (GRCh38)
X:134710049 (GRCh37)
Canonical SPDI:: NC_000023.11:135576123:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000068/7 (GnomAD)
HGVS:: NC_000023.11:g.135576124T>C, NC_000023.10:g.134710049T>C, NG_055290.1:g.60499T>C, NW_004070887.1:g.507267T>C

Select item 149042401516.

rs1490424015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135526111 (GRCh38)
X:134660036 (GRCh37)
Canonical SPDI:: NC_000023.11:135526110:G:A
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135526111G>A, NC_000023.10:g.134660036G>A, NG_055290.1:g.10486G>A, NW_004070887.1:g.457254G>A

Select item 149040539717.

rs1490405397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135550398 (GRCh38)
X:134684323 (GRCh37)
Canonical SPDI:: NC_000023.11:135550397:A:G
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135550398A>G, NC_000023.10:g.134684323A>G, NG_055290.1:g.34773A>G, NW_004070887.1:g.481541A>G

Select item 149037207918.

rs1490372079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135524315 (GRCh38)
X:134658240 (GRCh37)
Canonical SPDI:: NC_000023.11:135524314:G:A
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135524315G>A, NC_000023.10:g.134658240G>A, NG_055290.1:g.8690G>A, NW_004070887.1:g.455458G>A

Select item 149028352619.

rs1490283526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135537549 (GRCh38)
X:134671474 (GRCh37)
Canonical SPDI:: NC_000023.11:135537548:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135537549T>C, NC_000023.10:g.134671474T>C, NG_055290.1:g.21924T>C, NW_004070887.1:g.468692T>C

Select item 149020884720.

rs1490208847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135577501 (GRCh38)
X:134711426 (GRCh37)
Canonical SPDI:: NC_000023.11:135577500:T:C
Gene:: INTS6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135577501T>C, NC_000023.10:g.134711426T>C, NG_055290.1:g.61876T>C, NW_004070887.1:g.508644T>C

<< First< Prev

Page of 411

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 8204

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity