SNP Links for Gene (Select 100874313) - SNP

Links from Gene

Items: 1 to 20 of 20428

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Select item 14915311661.

rs1491531166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 1:49398333 (GRCh38)
1:49864005 (GRCh37)
Canonical SPDI:: NC_000001.11:49398331:TTT:T,NC_000001.11:49398331:TTT:TT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.49398333_49398334del, NC_000001.11:g.49398334del, NC_000001.10:g.49864005_49864006del, NC_000001.10:g.49864006del

Select item 14915030072.

rs1491503007 has merged into rs149386987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:49395549 (GRCh38)
1:49861221 (GRCh37)
Canonical SPDI:: NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:49395533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.49395535TG[7], NC_000001.11:g.49395535TG[8], NC_000001.11:g.49395535TG[9], NC_000001.11:g.49395535TG[10], NC_000001.11:g.49395535TG[11], NC_000001.11:g.49395535TG[12], NC_000001.11:g.49395535TG[13], NC_000001.11:g.49395535TG[14], NC_000001.11:g.49395535TG[16], NC_000001.11:g.49395535TG[17], NC_000001.11:g.49395535TG[18], NC_000001.11:g.49395535TG[19], NC_000001.11:g.49395535TG[20], NC_000001.11:g.49395535TG[21], NC_000001.11:g.49395535TG[22], NC_000001.11:g.49395535TG[23], NC_000001.11:g.49395535TG[24], NC_000001.10:g.49861207TG[7], NC_000001.10:g.49861207TG[8], NC_000001.10:g.49861207TG[9], NC_000001.10:g.49861207TG[10], NC_000001.10:g.49861207TG[11], NC_000001.10:g.49861207TG[12], NC_000001.10:g.49861207TG[13], NC_000001.10:g.49861207TG[14], NC_000001.10:g.49861207TG[16], NC_000001.10:g.49861207TG[17], NC_000001.10:g.49861207TG[18], NC_000001.10:g.49861207TG[19], NC_000001.10:g.49861207TG[20], NC_000001.10:g.49861207TG[21], NC_000001.10:g.49861207TG[22], NC_000001.10:g.49861207TG[23], NC_000001.10:g.49861207TG[24]

Select item 14913963983.

rs1491396398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT [Show Flanks]
Chromosome:: 1:49386264 (GRCh38)
1:49851937 (GRCh37)
Canonical SPDI:: NC_000001.11:49386264:ATGT:ATGTATGT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGTATGT=0./0 (ALFA)
ATGT=0.000004/1 (TOPMED)
ATGT=0.000011/1 (GnomAD)
HGVS:: NC_000001.11:g.49386265_49386268dup, NC_000001.10:g.49851937_49851940dup

Select item 14913356774.

rs1491335677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGAGAGAGAGAGAGAT [Show Flanks]
Chromosome:: 1:49409172 (GRCh38)
1:49874845 (GRCh37)
Canonical SPDI:: NC_000001.11:49409172:AT:ATGAGAGAGAGAGAGAGAT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.49409174_49409175insGAGAGAGAGAGAGAGAT, NC_000001.10:g.49874846_49874847insGAGAGAGAGAGAGAGAT

Select item 14912751455.

rs1491275145 has merged into rs1186333971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:49429863 (GRCh38)
1:49895535 (GRCh37)
Canonical SPDI:: NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:49429850:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00667/4 (NorthernSweden)
HGVS:: NC_000001.11:g.49429863_49429866del, NC_000001.11:g.49429864_49429866del, NC_000001.11:g.49429865_49429866del, NC_000001.11:g.49429866del, NC_000001.11:g.49429866dup, NC_000001.11:g.49429865_49429866dup, NC_000001.11:g.49429864_49429866dup, NC_000001.10:g.49895535_49895538del, NC_000001.10:g.49895536_49895538del, NC_000001.10:g.49895537_49895538del, NC_000001.10:g.49895538del, NC_000001.10:g.49895538dup, NC_000001.10:g.49895537_49895538dup, NC_000001.10:g.49895536_49895538dup

Select item 14912736166.

rs1491273616 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:49423809 (GRCh38)
1:49889481 (GRCh37)
Canonical SPDI:: NC_000001.11:49423808:CA:
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0054/64 (ALFA)
-=0.00534/71 (GnomAD)
HGVS:: NC_000001.11:g.49423809_49423810del, NC_000001.10:g.49889481_49889482del

Select item 14912386327.

rs1491238632 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATGTATATATATATATATACACATATATATA [Show Flanks]
Chromosome:: 1:49395734 (GRCh38)
1:49861407 (GRCh37)
Canonical SPDI:: NC_000001.11:49395734:ATATATATATATGTATATATATATATATACACATATATATA:ATATATATATATGTATATATATATATATACACATATATATATATGTATATATATATATATACACATATATATA
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.49395744_49395775dup, NC_000001.10:g.49861416_49861447dup

Select item 14912173888.

rs1491217388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:49395817 (GRCh38)
1:49861490 (GRCh37)
Canonical SPDI:: NC_000001.11:49395817:T:TGT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.49395818_49395819insGT, NC_000001.10:g.49861490_49861491insGT

Select item 14912155239.

rs1491215523 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:49409173 (GRCh38)
1:49874845 (GRCh37)
Canonical SPDI:: NC_000001.11:49409172:AT:
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0004/2 (ALFA)
HGVS:: NC_000001.11:g.49409173_49409174del, NC_000001.10:g.49874845_49874846del

Select item 149119501510.

rs1491195015 has merged into rs5774048 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:49423821 (GRCh38)
1:49889493 (GRCh37)
Canonical SPDI:: NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:49423809:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.49423821_49423831del, NC_000001.11:g.49423822_49423831del, NC_000001.11:g.49423823_49423831del, NC_000001.11:g.49423824_49423831del, NC_000001.11:g.49423826_49423831del, NC_000001.11:g.49423828_49423831del, NC_000001.11:g.49423829_49423831del, NC_000001.11:g.49423830_49423831del, NC_000001.11:g.49423831del, NC_000001.11:g.49423831dup, NC_000001.11:g.49423829_49423831dup, NC_000001.11:g.49423817_49423831dup, NC_000001.10:g.49889493_49889503del, NC_000001.10:g.49889494_49889503del, NC_000001.10:g.49889495_49889503del, NC_000001.10:g.49889496_49889503del, NC_000001.10:g.49889498_49889503del, NC_000001.10:g.49889500_49889503del, NC_000001.10:g.49889501_49889503del, NC_000001.10:g.49889502_49889503del, NC_000001.10:g.49889503del, NC_000001.10:g.49889503dup, NC_000001.10:g.49889501_49889503dup, NC_000001.10:g.49889489_49889503dup

Select item 149111313411.

rs1491113134 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:49398332 (GRCh38)
1:49864005 (GRCh37)
Canonical SPDI:: NC_000001.11:49398332::C
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00052/39 (GnomAD)
HGVS:: NC_000001.11:g.49398332_49398333insC, NC_000001.10:g.49864004_49864005insC

Select item 149108165212.

rs1491081652 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:49391563 (GRCh38)
1:49857235 (GRCh37)
Canonical SPDI:: NC_000001.11:49391561:TGT:T
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00076/9 (ALFA)
-=0.00121/102 (GnomAD)
HGVS:: NC_000001.11:g.49391563_49391564del, NC_000001.10:g.49857235_49857236del

Select item 149107872913.

rs1491078729 has merged into rs34024621 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:49440082 (GRCh38)
1:49905754 (GRCh37)
Canonical SPDI:: NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:49440069:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000001.11:g.49440082_49440087del, NC_000001.11:g.49440085_49440087del, NC_000001.11:g.49440086_49440087del, NC_000001.11:g.49440087del, NC_000001.11:g.49440087dup, NC_000001.11:g.49440086_49440087dup, NC_000001.11:g.49440085_49440087dup, NC_000001.11:g.49440084_49440087dup, NC_000001.11:g.49440082_49440087dup, NC_000001.11:g.49440081_49440087dup, NC_000001.11:g.49440078_49440087dup, NC_000001.10:g.49905754_49905759del, NC_000001.10:g.49905757_49905759del, NC_000001.10:g.49905758_49905759del, NC_000001.10:g.49905759del, NC_000001.10:g.49905759dup, NC_000001.10:g.49905758_49905759dup, NC_000001.10:g.49905757_49905759dup, NC_000001.10:g.49905756_49905759dup, NC_000001.10:g.49905754_49905759dup, NC_000001.10:g.49905753_49905759dup, NC_000001.10:g.49905750_49905759dup

Select item 149107072714.

rs1491070727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:49386295 (GRCh38)
1:49851967 (GRCh37)
Canonical SPDI:: NC_000001.11:49386293:TAT:T
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.49386295_49386296del, NC_000001.10:g.49851967_49851968del

Select item 149098822215.

rs1490988222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:49452269 (GRCh38)
1:49917941 (GRCh37)
Canonical SPDI:: NC_000001.11:49452268:G:A
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.49452269G>A, NC_000001.10:g.49917941G>A

Select item 149092184016.

rs1490921840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:49407683 (GRCh38)
1:49873355 (GRCh37)
Canonical SPDI:: NC_000001.11:49407682:A:G
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: 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_000001.11:g.49407683A>G, NC_000001.10:g.49873355A>G

Select item 149088918117.

rs1490889181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:49425136 (GRCh38)
1:49890808 (GRCh37)
Canonical SPDI:: NC_000001.11:49425135:A:C
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.49425136A>C, NC_000001.10:g.49890808A>C

Select item 149088453018.

rs1490884530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:49442034 (GRCh38)
1:49907706 (GRCh37)
Canonical SPDI:: NC_000001.11:49442033:G:C
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.49442034G>C, NC_000001.10:g.49907706G>C

Select item 149085479519.

rs1490854795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:49406883 (GRCh38)
1:49872555 (GRCh37)
Canonical SPDI:: NC_000001.11:49406882:G:A
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: 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_000001.11:g.49406883G>A, NC_000001.10:g.49872555G>A

Select item 149084140420.

rs1490841404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:49399147 (GRCh38)
1:49864819 (GRCh37)
Canonical SPDI:: NC_000001.11:49399146:G:A
Gene:: AGBL4 (Varview), AGBL4-IT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.49399147G>A, NC_000001.10:g.49864819G>A

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