SNP Links for Gene (Select 29957) - SNP

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Select item 14915087101.

rs1491508710 has merged into rs71098671 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTATTCCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:108201702 (GRCh38)
1:108744324 (GRCh37)
Canonical SPDI:: NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTATTCCTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108201691:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A24 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.108201702_108201709del, NC_000001.11:g.108201703_108201709del, NC_000001.11:g.108201704_108201709del, NC_000001.11:g.108201705_108201709del, NC_000001.11:g.108201706_108201709del, NC_000001.11:g.108201707_108201709del, NC_000001.11:g.108201708_108201709del, NC_000001.11:g.108201709del, NC_000001.11:g.108201709dup, NC_000001.11:g.108201708_108201709dup, NC_000001.11:g.108201692_108201709T[20]CTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.108201707_108201709dup, NC_000001.11:g.108201706_108201709dup, NC_000001.11:g.108201705_108201709dup, NC_000001.11:g.108201704_108201709dup, NC_000001.11:g.108201692_108201709T[24]ATTTATTCCTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.108201703_108201709dup, NC_000001.11:g.108201692_108201709T[25]CTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.108201692_108201709T[25]GTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.108201702_108201709dup, NC_000001.11:g.108201701_108201709dup, NC_000001.11:g.108201700_108201709dup, NC_000001.11:g.108201699_108201709dup, NC_000001.11:g.108201698_108201709dup, NC_000001.11:g.108201697_108201709dup, NC_000001.11:g.108201695_108201709dup, NC_000001.11:g.108201694_108201709dup, NC_000001.11:g.108201693_108201709dup, NC_000001.11:g.108201692_108201709dup, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108201709_108201710insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744324_108744331del, NC_000001.10:g.108744325_108744331del, NC_000001.10:g.108744326_108744331del, NC_000001.10:g.108744327_108744331del, NC_000001.10:g.108744328_108744331del, NC_000001.10:g.108744329_108744331del, NC_000001.10:g.108744330_108744331del, NC_000001.10:g.108744331del, NC_000001.10:g.108744331dup, NC_000001.10:g.108744330_108744331dup, NC_000001.10:g.108744314_108744331T[20]CTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.108744329_108744331dup, NC_000001.10:g.108744328_108744331dup, NC_000001.10:g.108744327_108744331dup, NC_000001.10:g.108744326_108744331dup, NC_000001.10:g.108744314_108744331T[24]ATTTATTCCTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.108744325_108744331dup, NC_000001.10:g.108744314_108744331T[25]CTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.108744314_108744331T[25]GTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.108744324_108744331dup, NC_000001.10:g.108744323_108744331dup, NC_000001.10:g.108744322_108744331dup, NC_000001.10:g.108744321_108744331dup, NC_000001.10:g.108744320_108744331dup, NC_000001.10:g.108744319_108744331dup, NC_000001.10:g.108744317_108744331dup, NC_000001.10:g.108744316_108744331dup, NC_000001.10:g.108744315_108744331dup, NC_000001.10:g.108744314_108744331dup, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.108744331_108744332insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032752.1:g.3660_3667del, NG_032752.1:g.3661_3667del, NG_032752.1:g.3662_3667del, NG_032752.1:g.3663_3667del, NG_032752.1:g.3664_3667del, NG_032752.1:g.3665_3667del, NG_032752.1:g.3666_3667del, NG_032752.1:g.3667del, NG_032752.1:g.3667dup, NG_032752.1:g.3666_3667dup, NG_032752.1:g.3650_3667A[20]GAAAAAAAAAAAAAAAAAAAA[1], NG_032752.1:g.3665_3667dup, NG_032752.1:g.3664_3667dup, NG_032752.1:g.3663_3667dup, NG_032752.1:g.3662_3667dup, NG_032752.1:g.3650_3667A[20]GGAATAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032752.1:g.3661_3667dup, NG_032752.1:g.3650_3667A[20]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032752.1:g.3650_3667A[19]GAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032752.1:g.3660_3667dup, NG_032752.1:g.3659_3667dup, NG_032752.1:g.3658_3667dup, NG_032752.1:g.3657_3667dup, NG_032752.1:g.3656_3667dup, NG_032752.1:g.3655_3667dup, NG_032752.1:g.3653_3667dup, NG_032752.1:g.3652_3667dup, NG_032752.1:g.3651_3667dup, NG_032752.1:g.3650_3667dup, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032752.1:g.3667_3668insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_017852928.1:g.213872_213879del, NW_017852928.1:g.213873_213879del, NW_017852928.1:g.213874_213879del, NW_017852928.1:g.213875_213879del, NW_017852928.1:g.213876_213879del, NW_017852928.1:g.213877_213879del, NW_017852928.1:g.213878_213879del, NW_017852928.1:g.213879del, NW_017852928.1:g.213879dup, NW_017852928.1:g.213878_213879dup, NW_017852928.1:g.213862_213879T[20]CTTTTTTTTTTTTTTTTTTTT[1], NW_017852928.1:g.213877_213879dup, NW_017852928.1:g.213876_213879dup, NW_017852928.1:g.213875_213879dup, NW_017852928.1:g.213874_213879dup, NW_017852928.1:g.213862_213879T[24]ATTTATTCCTTTTTTTTTTTTTTTTTTTT[1], NW_017852928.1:g.213873_213879dup, NW_017852928.1:g.213862_213879T[25]CTTTTTTTTTTTTTTTTTTTT[1], NW_017852928.1:g.213862_213879T[25]GTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NW_017852928.1:g.213872_213879dup, NW_017852928.1:g.213871_213879dup, NW_017852928.1:g.213870_213879dup, NW_017852928.1:g.213869_213879dup, NW_017852928.1:g.213868_213879dup, NW_017852928.1:g.213867_213879dup, NW_017852928.1:g.213865_213879dup, NW_017852928.1:g.213864_213879dup, NW_017852928.1:g.213863_213879dup, NW_017852928.1:g.213862_213879dup, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_017852928.1:g.213879_213880insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914768502.

rs1491476850 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:108145590 (GRCh38)
1:108688212 (GRCh37)
Canonical SPDI:: NC_000001.11:108145587:TATA:TA
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108145588TA[1], NC_000001.10:g.108688210TA[1], NG_032752.1:g.59768TA[1], NW_017852928.1:g.157732TA[1]

Select item 14914750323.

rs1491475032 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:108159465 (GRCh38)
1:108702088 (GRCh37)
Canonical SPDI:: NC_000001.11:108159465::G
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.108159465_108159466insG, NC_000001.10:g.108702087_108702088insG, NG_032752.1:g.45893_45894insC, NW_017852928.1:g.171633_171634insG

Select item 14914664894.

rs1491466489 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:108165421 (GRCh38)
1:108708043 (GRCh37)
Canonical SPDI:: NC_000001.11:108165419:GGG:G
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.43277/7068 (ALFA)
-=0.398661/1786 (Estonian)
GG=0.408869/6853 (TOMMO)
-=0.427942/59579 (GnomAD)
-=0.45/18 (GENOME_DK)
-=0.457143/96 (Vietnamese)
HGVS:: NC_000001.11:g.108165421_108165422del, NC_000001.10:g.108708043_108708044del, NG_032752.1:g.39938_39939del, NW_017852928.1:g.177589_177590insGG

Select item 14914619675.

rs1491461967 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:108201692 (GRCh38)
1:108744315 (GRCh37)
Canonical SPDI:: NC_000001.11:108201692:T:TAT
Gene:: SLC25A24 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.108201693_108201694insAT, NC_000001.10:g.108744315_108744316insAT, NG_032752.1:g.3666_3667insTA, NW_017852928.1:g.213863_213864insAT

Select item 14914468596.

rs1491446859 has merged into rs3043349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 1:108180634 (GRCh38)
1:108723256 (GRCh37)
Canonical SPDI:: NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:108180616:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.108180618CT[8], NC_000001.11:g.108180618CT[9], NC_000001.11:g.108180618CT[10], NC_000001.11:g.108180618CT[11], NC_000001.11:g.108180618CT[12], NC_000001.11:g.108180618CT[13], NC_000001.11:g.108180618CT[14], NC_000001.11:g.108180618CT[15], NC_000001.11:g.108180618CT[16], NC_000001.11:g.108180618CT[17], NC_000001.11:g.108180618CT[18], NC_000001.11:g.108180618CT[19], NC_000001.11:g.108180618CT[20], NC_000001.11:g.108180618CT[21], NC_000001.11:g.108180618CT[22], NC_000001.11:g.108180618CT[23], NC_000001.11:g.108180618CT[24], NC_000001.11:g.108180618CT[26], NC_000001.11:g.108180618CT[27], NC_000001.11:g.108180618CT[28], NC_000001.11:g.108180618CT[29], NC_000001.11:g.108180618CT[30], NC_000001.11:g.108180618CT[31], NC_000001.11:g.108180618CT[32], NC_000001.11:g.108180618CT[33], NC_000001.11:g.108180618CT[34], NC_000001.11:g.108180618CT[35], NC_000001.11:g.108180618CT[36], NC_000001.11:g.108180618CT[37], NC_000001.10:g.108723240CT[8], NC_000001.10:g.108723240CT[9], NC_000001.10:g.108723240CT[10], NC_000001.10:g.108723240CT[11], NC_000001.10:g.108723240CT[12], NC_000001.10:g.108723240CT[13], NC_000001.10:g.108723240CT[14], NC_000001.10:g.108723240CT[15], NC_000001.10:g.108723240CT[16], NC_000001.10:g.108723240CT[17], NC_000001.10:g.108723240CT[18], NC_000001.10:g.108723240CT[19], NC_000001.10:g.108723240CT[20], NC_000001.10:g.108723240CT[21], NC_000001.10:g.108723240CT[22], NC_000001.10:g.108723240CT[23], NC_000001.10:g.108723240CT[24], NC_000001.10:g.108723240CT[26], NC_000001.10:g.108723240CT[27], NC_000001.10:g.108723240CT[28], NC_000001.10:g.108723240CT[29], NC_000001.10:g.108723240CT[30], NC_000001.10:g.108723240CT[31], NC_000001.10:g.108723240CT[32], NC_000001.10:g.108723240CT[33], NC_000001.10:g.108723240CT[34], NC_000001.10:g.108723240CT[35], NC_000001.10:g.108723240CT[36], NC_000001.10:g.108723240CT[37], NG_032752.1:g.24693GA[8], NG_032752.1:g.24693GA[9], NG_032752.1:g.24693GA[10], NG_032752.1:g.24693GA[11], NG_032752.1:g.24693GA[12], NG_032752.1:g.24693GA[13], NG_032752.1:g.24693GA[14], NG_032752.1:g.24693GA[15], NG_032752.1:g.24693GA[16], NG_032752.1:g.24693GA[17], NG_032752.1:g.24693GA[18], NG_032752.1:g.24693GA[19], NG_032752.1:g.24693GA[20], NG_032752.1:g.24693GA[21], NG_032752.1:g.24693GA[22], NG_032752.1:g.24693GA[23], NG_032752.1:g.24693GA[24], NG_032752.1:g.24693GA[26], NG_032752.1:g.24693GA[27], NG_032752.1:g.24693GA[28], NG_032752.1:g.24693GA[29], NG_032752.1:g.24693GA[30], NG_032752.1:g.24693GA[31], NG_032752.1:g.24693GA[32], NG_032752.1:g.24693GA[33], NG_032752.1:g.24693GA[34], NG_032752.1:g.24693GA[35], NG_032752.1:g.24693GA[36], NG_032752.1:g.24693GA[37], NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798_192813del, NW_017852928.1:g.192798_192811del, NW_017852928.1:g.192798_192809del, NW_017852928.1:g.192798_192807del, NW_017852928.1:g.192798_192805del, NW_017852928.1:g.192798_192803del, NW_017852928.1:g.192798_192801del, NW_017852928.1:g.192798_192799del, NW_017852928.1:g.192798C>T, NW_017852928.1:g.192798delinsTCT, NW_017852928.1:g.192798delinsTCTCT, NW_017852928.1:g.192798delinsTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT, NW_017852928.1:g.192798delinsTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT

Select item 14914128127.

rs1491412812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 1:108180617 (GRCh38)
1:108723240 (GRCh37)
Canonical SPDI:: NC_000001.11:108180617:C:CCC
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
CC=0.22062/1573 (GnomAD)
HGVS:: NC_000001.11:g.108180618_108180619insCC, NC_000001.10:g.108723240_108723241insCC, NG_032752.1:g.24741_24742insGG, NW_017852928.1:g.192798_192799dup

Select item 14913686778.

rs1491368677 has merged into rs60246776 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:108159473 (GRCh38)
1:108702095 (GRCh37)
Canonical SPDI:: NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108159464:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.244/1222 (1000Genomes)
HGVS:: NC_000001.11:g.108159473_108159483del, NC_000001.11:g.108159475_108159483del, NC_000001.11:g.108159476_108159483del, NC_000001.11:g.108159478_108159483del, NC_000001.11:g.108159479_108159483del, NC_000001.11:g.108159481_108159483del, NC_000001.11:g.108159482_108159483del, NC_000001.11:g.108159483del, NC_000001.11:g.108159483dup, NC_000001.11:g.108159482_108159483dup, NC_000001.11:g.108159481_108159483dup, NC_000001.11:g.108159480_108159483dup, NC_000001.11:g.108159479_108159483dup, NC_000001.11:g.108159474_108159483dup, NC_000001.10:g.108702095_108702105del, NC_000001.10:g.108702097_108702105del, NC_000001.10:g.108702098_108702105del, NC_000001.10:g.108702100_108702105del, NC_000001.10:g.108702101_108702105del, NC_000001.10:g.108702103_108702105del, NC_000001.10:g.108702104_108702105del, NC_000001.10:g.108702105del, NC_000001.10:g.108702105dup, NC_000001.10:g.108702104_108702105dup, NC_000001.10:g.108702103_108702105dup, NC_000001.10:g.108702102_108702105dup, NC_000001.10:g.108702101_108702105dup, NC_000001.10:g.108702096_108702105dup, NG_032752.1:g.45884_45894del, NG_032752.1:g.45886_45894del, NG_032752.1:g.45887_45894del, NG_032752.1:g.45889_45894del, NG_032752.1:g.45890_45894del, NG_032752.1:g.45892_45894del, NG_032752.1:g.45893_45894del, NG_032752.1:g.45894del, NG_032752.1:g.45894dup, NG_032752.1:g.45893_45894dup, NG_032752.1:g.45892_45894dup, NG_032752.1:g.45891_45894dup, NG_032752.1:g.45890_45894dup, NG_032752.1:g.45885_45894dup, NW_017852928.1:g.171641_171651del, NW_017852928.1:g.171643_171651del, NW_017852928.1:g.171644_171651del, NW_017852928.1:g.171646_171651del, NW_017852928.1:g.171647_171651del, NW_017852928.1:g.171649_171651del, NW_017852928.1:g.171650_171651del, NW_017852928.1:g.171651del, NW_017852928.1:g.171651dup, NW_017852928.1:g.171650_171651dup, NW_017852928.1:g.171649_171651dup, NW_017852928.1:g.171648_171651dup, NW_017852928.1:g.171647_171651dup, NW_017852928.1:g.171642_171651dup

Select item 14910819399.

rs1491081939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTC [Show Flanks]
Chromosome:: 1:108180619 (GRCh38)
1:108723242 (GRCh37)
Canonical SPDI:: NC_000001.11:108180619:CTCTC:CTCTCCTCTC
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCTCCTCTC=0.00025/3 (ALFA)
CTCTC=0.01751/38 (GnomAD)
HGVS:: NC_000001.11:g.108180620_108180624dup, NC_000001.10:g.108723242_108723246dup, NG_032752.1:g.24735_24739dup, NW_017852928.1:g.192798_192799insTCTC, NW_017852928.1:g.192798_192799insTCTCCTCTC

Select item 149105009710.

rs1491050097 has merged into rs148182295 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:108145587 (GRCh38)
1:108688209 (GRCh37)
Canonical SPDI:: NC_000001.11:108145578:TTTTTTTTTT:TTTTTTTT,NC_000001.11:108145578:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:108145578:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:108145578:TTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108145578:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.238/986 (1000Genomes)
HGVS:: NC_000001.11:g.108145587_108145588del, NC_000001.11:g.108145588del, NC_000001.11:g.108145588dup, NC_000001.11:g.108145587_108145588dup, NC_000001.11:g.108145588_108145589insTTTTTTTTTTT, NC_000001.10:g.108688209_108688210del, NC_000001.10:g.108688210del, NC_000001.10:g.108688210dup, NC_000001.10:g.108688209_108688210dup, NC_000001.10:g.108688210_108688211insTTTTTTTTTTT, NG_032752.1:g.59779_59780del, NG_032752.1:g.59780del, NG_032752.1:g.59780dup, NG_032752.1:g.59779_59780dup, NG_032752.1:g.59780_59781insAAAAAAAAAAA, NW_017852928.1:g.157729C>T, NW_017852928.1:g.157729_157730del, NW_017852928.1:g.157729del, NW_017852928.1:g.157729delinsTT, NW_017852928.1:g.157729delinsTTT, NW_017852928.1:g.157729delinsTTTTTTTTTTTT

Select item 149104885211.

rs1491048852 has merged into rs61203492 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:108190703 (GRCh38)
1:108733325 (GRCh37)
Canonical SPDI:: NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:108190693:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.0005/5 (ALFA)
TT=0.1318/660 (1000Genomes)
HGVS:: NC_000001.11:g.108190703_108190707del, NC_000001.11:g.108190704_108190707del, NC_000001.11:g.108190706_108190707del, NC_000001.11:g.108190707del, NC_000001.11:g.108190707dup, NC_000001.11:g.108190706_108190707dup, NC_000001.11:g.108190705_108190707dup, NC_000001.11:g.108190704_108190707dup, NC_000001.11:g.108190700_108190707dup, NC_000001.10:g.108733325_108733329del, NC_000001.10:g.108733326_108733329del, NC_000001.10:g.108733328_108733329del, NC_000001.10:g.108733329del, NC_000001.10:g.108733329dup, NC_000001.10:g.108733328_108733329dup, NC_000001.10:g.108733327_108733329dup, NC_000001.10:g.108733326_108733329dup, NC_000001.10:g.108733322_108733329dup, NG_032752.1:g.14661_14665del, NG_032752.1:g.14662_14665del, NG_032752.1:g.14664_14665del, NG_032752.1:g.14665del, NG_032752.1:g.14665dup, NG_032752.1:g.14664_14665dup, NG_032752.1:g.14663_14665dup, NG_032752.1:g.14662_14665dup, NG_032752.1:g.14658_14665dup, NW_017852928.1:g.202873_202877del, NW_017852928.1:g.202874_202877del, NW_017852928.1:g.202876_202877del, NW_017852928.1:g.202877del, NW_017852928.1:g.202877dup, NW_017852928.1:g.202876_202877dup, NW_017852928.1:g.202875_202877dup, NW_017852928.1:g.202874_202877dup, NW_017852928.1:g.202870_202877dup

Select item 149102038812.

rs1491020388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:108178191 (GRCh38)
1:108720813 (GRCh37)
Canonical SPDI:: NC_000001.11:108178189:ATA:A
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.108178191_108178192del, NC_000001.10:g.108720813_108720814del, NG_032752.1:g.27168_27169del, NW_017852928.1:g.190370_190371del

Select item 149098012413.

rs1490980124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:108196262 (GRCh38)
1:108738884 (GRCh37)
Canonical SPDI:: NC_000001.11:108196261:G:A
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108196262G>A, NC_000001.10:g.108738884G>A, NG_032752.1:g.9097C>T, NW_017852928.1:g.208432G>A

Select item 149094767314.

rs1490947673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:108162981 (GRCh38)
1:108705603 (GRCh37)
Canonical SPDI:: NC_000001.11:108162980:A:G,NC_000001.11:108162980:A:T
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.006186/801 (GnomAD)
G=0.006715/43 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.108162981A>G, NC_000001.11:g.108162981A>T, NC_000001.10:g.108705603A>G, NC_000001.10:g.108705603A>T, NG_032752.1:g.42378T>C, NG_032752.1:g.42378T>A, NW_017852928.1:g.175149A>G, NW_017852928.1:g.175149A>T

Select item 149092901915.

rs1490929019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:108193457 (GRCh38)
1:108736079 (GRCh37)
Canonical SPDI:: NC_000001.11:108193456:T:A
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/3 (GnomAD)
HGVS:: NC_000001.11:g.108193457T>A, NC_000001.10:g.108736079T>A, NG_032752.1:g.11902A>T, NW_017852928.1:g.205627T>A

Select item 149092464716.

rs1490924647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108179000 (GRCh38)
1:108721622 (GRCh37)
Canonical SPDI:: NC_000001.11:108178999:A:G
Gene:: SLC25A24 (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.108179000A>G, NC_000001.10:g.108721622A>G, NG_032752.1:g.26359T>C, NW_017852928.1:g.191179A>G

Select item 149090923217.

rs1490909232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:108180136 (GRCh38)
1:108722758 (GRCh37)
Canonical SPDI:: NC_000001.11:108180135:G:C
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.108180136G>C, NC_000001.10:g.108722758G>C, NG_032752.1:g.25223C>G, NW_017852928.1:g.192315G>C

Select item 149090097918.

rs1490900979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108195524 (GRCh38)
1:108738146 (GRCh37)
Canonical SPDI:: NC_000001.11:108195523:A:G
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.108195524A>G, NC_000001.10:g.108738146A>G, NG_032752.1:g.9835T>C, NW_017852928.1:g.207694A>G

Select item 149072436319.

rs1490724363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:108170951 (GRCh38)
1:108713573 (GRCh37)
Canonical SPDI:: NC_000001.11:108170950:C:A
Gene:: SLC25A24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.108170951C>A, NC_000001.10:g.108713573C>A, NG_032752.1:g.34408G>T, NW_017852928.1:g.183127C>A

Select item 149069347720.

rs1490693477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:108172143 (GRCh38)
1:108714765 (GRCh37)
Canonical SPDI:: NC_000001.11:108172142:A:C
Gene:: SLC25A24 (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.108172143A>C, NC_000001.10:g.108714765A>C, NG_032752.1:g.33216T>G, NW_017852928.1:g.184319A>C

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