SNP Links for Gene (Select 54900) - SNP

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Select item 14915873951.

rs1491587395 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:203769441 (GRCh38)
1:203738569 (GRCh37)
Canonical SPDI:: NC_000001.11:203769439:AGA:A
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.203769441_203769442del, NC_000001.10:g.203738569_203738570del

Select item 14915635232.

rs1491563523 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGAA [Show Flanks]
Chromosome:: 1:203770454 (GRCh38)
1:203739583 (GRCh37)
Canonical SPDI:: NC_000001.11:203770454:AA:AAAGGAA
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGGAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.203770456_203770457insAGGAA, NC_000001.10:g.203739584_203739585insAGGAA

Select item 14915411843.

rs1491541184 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:203770545 (GRCh38)
1:203739673 (GRCh37)
Canonical SPDI:: NC_000001.11:203770543:AGA:A
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00018/2 (TOMMO)
HGVS:: NC_000001.11:g.203770545_203770546del, NC_000001.10:g.203739673_203739674del

Select item 14914010324.

rs1491401032 has merged into rs1317078482 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAAA,AAGAAA,AAGAAAGAAA [Show Flanks]
Chromosome:: 1:203770511 (GRCh38)
1:203739639 (GRCh37)
Canonical SPDI:: NC_000001.11:203770510:AA:A,NC_000001.11:203770510:AA:AAA,NC_000001.11:203770510:AA:AAAAA,NC_000001.11:203770510:AA:AAAGAAA,NC_000001.11:203770510:AA:AAAGAAAGAAA
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AAA=0.00358/61 (TOMMO)
HGVS:: NC_000001.11:g.203770512del, NC_000001.11:g.203770512dup, NC_000001.11:g.203770512_203770513insAAA, NC_000001.11:g.203770512_203770513insAGAAA, NC_000001.11:g.203770511_203770512AAAG[2]AAA[1], NC_000001.10:g.203739640del, NC_000001.10:g.203739640dup, NC_000001.10:g.203739640_203739641insAAA, NC_000001.10:g.203739640_203739641insAGAAA, NC_000001.10:g.203739639_203739640AAAG[2]AAA[1]

Select item 14913944435.

rs1491394443 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:203769774 (GRCh38)
1:203738903 (GRCh37)
Canonical SPDI:: NC_000001.11:203769774::C
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00004/3 (GnomAD)
HGVS:: NC_000001.11:g.203769774_203769775insC, NC_000001.10:g.203738902_203738903insC

Select item 14913830366.

rs1491383036 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:203767962 (GRCh38)
1:203737090 (GRCh37)
Canonical SPDI:: NC_000001.11:203767961:AT:
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000038/5 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.203767962_203767963del, NC_000001.10:g.203737090_203737091del

Select item 14913529117.

rs1491352911 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGAGAGAGAGAG [Show Flanks]
Chromosome:: 1:203770432 (GRCh38)
1:203739561 (GRCh37)
Canonical SPDI:: NC_000001.11:203770432::G,NC_000001.11:203770432::GAGAGAGAGAGAG
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00722/11 (Korea1K)
G=0.00913/128 (TOMMO)
G=0.06905/1754 (GnomAD)
HGVS:: NC_000001.11:g.203770432_203770433insG, NC_000001.11:g.203770432_203770433insGAGAGAGAGAGAG, NC_000001.10:g.203739560_203739561insG, NC_000001.10:g.203739560_203739561insGAGAGAGAGAGAG

Select item 14912542208.

rs1491254220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:203770568 (GRCh38)
1:203739697 (GRCh37)
Canonical SPDI:: NC_000001.11:203770568:G:GG
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.203770569dup, NC_000001.10:g.203739697dup

Select item 14912440889.

rs1491244088 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:203770433 (GRCh38)
1:203739561 (GRCh37)
Canonical SPDI:: NC_000001.11:203770431:AAA:A
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00185/37 (GnomAD)
-=0.00272/38 (TOMMO)
-=0.00594/9 (Korea1K)
HGVS:: NC_000001.11:g.203770433_203770434del, NC_000001.10:g.203739561_203739562del

Select item 149124250410.

rs1491242504 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:203770510 (GRCh38)
1:203739638 (GRCh37)
Canonical SPDI:: NC_000001.11:203770509:GA:
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.203770510_203770511del, NC_000001.10:g.203739638_203739639del

Select item 149123975911.

rs1491239759 has merged into rs1311215813 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:203769783 (GRCh38)
1:203738911 (GRCh37)
Canonical SPDI:: NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.203769783_203769784del, NC_000001.11:g.203769784del, NC_000001.11:g.203769784dup, NC_000001.11:g.203769783_203769784dup, NC_000001.11:g.203769782_203769784dup, NC_000001.11:g.203769781_203769784dup, NC_000001.11:g.203769780_203769784dup, NC_000001.11:g.203769779_203769784dup, NC_000001.11:g.203769778_203769784dup, NC_000001.11:g.203769777_203769784dup, NC_000001.11:g.203769776_203769784dup, NC_000001.11:g.203769775_203769784dup, NC_000001.11:g.203769774_203769784dup, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGGG, NC_000001.10:g.203738911_203738912del, NC_000001.10:g.203738912del, NC_000001.10:g.203738912dup, NC_000001.10:g.203738911_203738912dup, NC_000001.10:g.203738910_203738912dup, NC_000001.10:g.203738909_203738912dup, NC_000001.10:g.203738908_203738912dup, NC_000001.10:g.203738907_203738912dup, NC_000001.10:g.203738906_203738912dup, NC_000001.10:g.203738905_203738912dup, NC_000001.10:g.203738904_203738912dup, NC_000001.10:g.203738903_203738912dup, NC_000001.10:g.203738902_203738912dup, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGGG

Select item 149115780112.

rs1491157801 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:203769442 (GRCh38)
1:203738570 (GRCh37)
Canonical SPDI:: NC_000001.11:203769441:AA:
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00043/37 (GnomAD)
HGVS:: NC_000001.11:g.203769442_203769443del, NC_000001.10:g.203738570_203738571del

Select item 149110334013.

rs1491103340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 1:203770544 (GRCh38)
1:203739673 (GRCh37)
Canonical SPDI:: NC_000001.11:203770544:GAA:GAAGGAA
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GAAG=0.00225/3 (Korea1K)
GAAG=0.00683/78 (TOMMO)
HGVS:: NC_000001.11:g.203770547_203770548insGGAA, NC_000001.10:g.203739675_203739676insGGAA

Select item 149109952914.

rs1491099529 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:203770455 (GRCh38)
1:203739583 (GRCh37)
Canonical SPDI:: NC_000001.11:203770453:AAA:A,NC_000001.11:203770453:AAA:AA,NC_000001.11:203770453:AAA:AAAA
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.0004/5 (TOMMO)
-=0.00107/23 (GnomAD)
-=0.00142/2 (Korea1K)
HGVS:: NC_000001.11:g.203770455_203770456del, NC_000001.11:g.203770456del, NC_000001.11:g.203770456dup, NC_000001.10:g.203739583_203739584del, NC_000001.10:g.203739584del, NC_000001.10:g.203739584dup

Select item 149107404115.

rs1491074041 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:203769443 (GRCh38)
1:203738571 (GRCh37)
Canonical SPDI:: NC_000001.11:203769442:AG:
Gene:: LAX1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000018/1 (GnomAD)
HGVS:: NC_000001.11:g.203769443_203769444del, NC_000001.10:g.203738571_203738572del

Select item 149080293316.

rs1490802933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203777081 (GRCh38)
1:203746209 (GRCh37)
Canonical SPDI:: NC_000001.11:203777080:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.203777081T>C, NC_000001.10:g.203746209T>C

Select item 149071612617.

rs1490716126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:203778341 (GRCh38)
1:203747469 (GRCh37)
Canonical SPDI:: NC_000001.11:203778340:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000071/1 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.203778341G>C, NC_000001.10:g.203747469G>C

Select item 149068733518.

rs1490687335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:203777270 (GRCh38)
1:203746398 (GRCh37)
Canonical SPDI:: NC_000001.11:203777269:C:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.203777270C>A, NC_000001.10:g.203746398C>A

Select item 149066154019.

rs1490661540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:203763393 (GRCh38)
1:203732521 (GRCh37)
Canonical SPDI:: NC_000001.11:203763392:A:G
Gene:: LAX1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.203763393A>G, NC_000001.10:g.203732521A>G

Select item 149031177720.

rs1490311777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:203777596 (GRCh38)
1:203746724 (GRCh37)
Canonical SPDI:: NC_000001.11:203777595:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.203777596G>A, NC_000001.10:g.203746724G>A

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