SNP Links for Gene (Select 8034) - SNP

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Select item 14914695141.

rs1491469514 has merged into rs60845242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68495793 (GRCh38)
10:70255550 (GRCh37)
Canonical SPDI:: NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68495781:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68495793_68495801del, NC_000010.11:g.68495794_68495801del, NC_000010.11:g.68495795_68495801del, NC_000010.11:g.68495796_68495801del, NC_000010.11:g.68495797_68495801del, NC_000010.11:g.68495798_68495801del, NC_000010.11:g.68495799_68495801del, NC_000010.11:g.68495800_68495801del, NC_000010.11:g.68495801del, NC_000010.11:g.68495801dup, NC_000010.11:g.68495800_68495801dup, NC_000010.11:g.68495799_68495801dup, NC_000010.11:g.68495798_68495801dup, NC_000010.11:g.68495797_68495801dup, NC_000010.11:g.68495796_68495801dup, NC_000010.11:g.68495795_68495801dup, NC_000010.11:g.68495793_68495801dup, NC_000010.11:g.68495791_68495801dup, NC_000010.11:g.68495790_68495801dup, NC_000010.11:g.68495789_68495801dup, NC_000010.11:g.68495801_68495802insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70255550_70255558del, NC_000010.10:g.70255551_70255558del, NC_000010.10:g.70255552_70255558del, NC_000010.10:g.70255553_70255558del, NC_000010.10:g.70255554_70255558del, NC_000010.10:g.70255555_70255558del, NC_000010.10:g.70255556_70255558del, NC_000010.10:g.70255557_70255558del, NC_000010.10:g.70255558del, NC_000010.10:g.70255558dup, NC_000010.10:g.70255557_70255558dup, NC_000010.10:g.70255556_70255558dup, NC_000010.10:g.70255555_70255558dup, NC_000010.10:g.70255554_70255558dup, NC_000010.10:g.70255553_70255558dup, NC_000010.10:g.70255552_70255558dup, NC_000010.10:g.70255550_70255558dup, NC_000010.10:g.70255548_70255558dup, NC_000010.10:g.70255547_70255558dup, NC_000010.10:g.70255546_70255558dup, NC_000010.10:g.70255558_70255559insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046972.1:g.36734_36742del, NG_046972.1:g.36735_36742del, NG_046972.1:g.36736_36742del, NG_046972.1:g.36737_36742del, NG_046972.1:g.36738_36742del, NG_046972.1:g.36739_36742del, NG_046972.1:g.36740_36742del, NG_046972.1:g.36741_36742del, NG_046972.1:g.36742del, NG_046972.1:g.36742dup, NG_046972.1:g.36741_36742dup, NG_046972.1:g.36740_36742dup, NG_046972.1:g.36739_36742dup, NG_046972.1:g.36738_36742dup, NG_046972.1:g.36737_36742dup, NG_046972.1:g.36736_36742dup, NG_046972.1:g.36734_36742dup, NG_046972.1:g.36732_36742dup, NG_046972.1:g.36731_36742dup, NG_046972.1:g.36730_36742dup, NG_046972.1:g.36742_36743insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914604622.

rs1491460462 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:68480930 (GRCh38)
10:70240687 (GRCh37)
Canonical SPDI:: NC_000010.11:68480926:TCTCT:TCT
Gene:: SLC25A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.68480928CT[1], NC_000010.10:g.70240685CT[1], NG_046972.1:g.51594GA[1], NM_152707.4:c.*2502GA[1], NM_001324314.2:c.*2502GA[1], NM_001324317.2:c.*2502GA[1]

Select item 14914562333.

rs1491456233 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:68513894 (GRCh38)
10:70273651 (GRCh37)
Canonical SPDI:: NC_000010.11:68513893:AG:
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.68513894_68513895del, NC_000010.10:g.70273651_70273652del, NG_046972.1:g.18629_18630del

Select item 14914402574.

rs1491440257 has merged into rs1182825187 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68524719 (GRCh38)
10:70284476 (GRCh37)
Canonical SPDI:: NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68524707:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.68524719_68524728del, NC_000010.11:g.68524720_68524728del, NC_000010.11:g.68524721_68524728del, NC_000010.11:g.68524722_68524728del, NC_000010.11:g.68524723_68524728del, NC_000010.11:g.68524724_68524728del, NC_000010.11:g.68524725_68524728del, NC_000010.11:g.68524726_68524728del, NC_000010.11:g.68524727_68524728del, NC_000010.11:g.68524728del, NC_000010.11:g.68524728dup, NC_000010.11:g.68524727_68524728dup, NC_000010.11:g.68524726_68524728dup, NC_000010.11:g.68524723_68524728dup, NC_000010.10:g.70284476_70284485del, NC_000010.10:g.70284477_70284485del, NC_000010.10:g.70284478_70284485del, NC_000010.10:g.70284479_70284485del, NC_000010.10:g.70284480_70284485del, NC_000010.10:g.70284481_70284485del, NC_000010.10:g.70284482_70284485del, NC_000010.10:g.70284483_70284485del, NC_000010.10:g.70284484_70284485del, NC_000010.10:g.70284485del, NC_000010.10:g.70284485dup, NC_000010.10:g.70284484_70284485dup, NC_000010.10:g.70284483_70284485dup, NC_000010.10:g.70284480_70284485dup, NG_046972.1:g.7807_7816del, NG_046972.1:g.7808_7816del, NG_046972.1:g.7809_7816del, NG_046972.1:g.7810_7816del, NG_046972.1:g.7811_7816del, NG_046972.1:g.7812_7816del, NG_046972.1:g.7813_7816del, NG_046972.1:g.7814_7816del, NG_046972.1:g.7815_7816del, NG_046972.1:g.7816del, NG_046972.1:g.7816dup, NG_046972.1:g.7815_7816dup, NG_046972.1:g.7814_7816dup, NG_046972.1:g.7811_7816dup

Select item 14914374255.

rs1491437425 has merged into rs11361421 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68479825 (GRCh38)
10:70239582 (GRCh37)
Canonical SPDI:: NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68479817:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68479825_68479835del, NC_000010.11:g.68479826_68479835del, NC_000010.11:g.68479831_68479835del, NC_000010.11:g.68479832_68479835del, NC_000010.11:g.68479833_68479835del, NC_000010.11:g.68479834_68479835del, NC_000010.11:g.68479835del, NC_000010.11:g.68479835dup, NC_000010.11:g.68479834_68479835dup, NC_000010.11:g.68479833_68479835dup, NC_000010.11:g.68479832_68479835dup, NC_000010.11:g.68479830_68479835dup, NC_000010.11:g.68479829_68479835dup, NC_000010.11:g.68479828_68479835dup, NC_000010.11:g.68479827_68479835dup, NC_000010.11:g.68479821_68479835dup, NC_000010.11:g.68479818_68479835A[20]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.70239582_70239592del, NC_000010.10:g.70239583_70239592del, NC_000010.10:g.70239588_70239592del, NC_000010.10:g.70239589_70239592del, NC_000010.10:g.70239590_70239592del, NC_000010.10:g.70239591_70239592del, NC_000010.10:g.70239592del, NC_000010.10:g.70239592dup, NC_000010.10:g.70239591_70239592dup, NC_000010.10:g.70239590_70239592dup, NC_000010.10:g.70239589_70239592dup, NC_000010.10:g.70239587_70239592dup, NC_000010.10:g.70239586_70239592dup, NC_000010.10:g.70239585_70239592dup, NC_000010.10:g.70239584_70239592dup, NC_000010.10:g.70239578_70239592dup, NC_000010.10:g.70239575_70239592A[20]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_046972.1:g.52696_52706del, NG_046972.1:g.52697_52706del, NG_046972.1:g.52702_52706del, NG_046972.1:g.52703_52706del, NG_046972.1:g.52704_52706del, NG_046972.1:g.52705_52706del, NG_046972.1:g.52706del, NG_046972.1:g.52706dup, NG_046972.1:g.52705_52706dup, NG_046972.1:g.52704_52706dup, NG_046972.1:g.52703_52706dup, NG_046972.1:g.52701_52706dup, NG_046972.1:g.52700_52706dup, NG_046972.1:g.52699_52706dup, NG_046972.1:g.52698_52706dup, NG_046972.1:g.52692_52706dup, NG_046972.1:g.52689_52706T[31]CTTTTTTTTTTTTTTTTTTTT[1], NM_152707.4:c.*3604_*3614del, NM_152707.4:c.*3605_*3614del, NM_152707.4:c.*3610_*3614del, NM_152707.4:c.*3611_*3614del, NM_152707.4:c.*3612_*3614del, NM_152707.4:c.*3613_*3614del, NM_152707.4:c.*3614del, NM_152707.4:c.*3614dup, NM_152707.4:c.*3613_*3614dup, NM_152707.4:c.*3612_*3614dup, NM_152707.4:c.*3611_*3614dup, NM_152707.4:c.*3609_*3614dup, NM_152707.4:c.*3608_*3614dup, NM_152707.4:c.*3607_*3614dup, NM_152707.4:c.*3606_*3614dup, NM_152707.4:c.*3600_*3614dup, NM_152707.4:c.*3597_*3614T[31]CTTTTTTTTTTTTTTTTTTTT[1], NM_001324314.2:c.*3604_*3614del, NM_001324314.2:c.*3605_*3614del, NM_001324314.2:c.*3610_*3614del, NM_001324314.2:c.*3611_*3614del, NM_001324314.2:c.*3612_*3614del, NM_001324314.2:c.*3613_*3614del, NM_001324314.2:c.*3614del, NM_001324314.2:c.*3614dup, NM_001324314.2:c.*3613_*3614dup, NM_001324314.2:c.*3612_*3614dup, NM_001324314.2:c.*3611_*3614dup, NM_001324314.2:c.*3609_*3614dup, NM_001324314.2:c.*3608_*3614dup, NM_001324314.2:c.*3607_*3614dup, NM_001324314.2:c.*3606_*3614dup, NM_001324314.2:c.*3600_*3614dup, NM_001324314.2:c.*3597_*3614T[31]CTTTTTTTTTTTTTTTTTTTT[1], NM_001324317.2:c.*3604_*3614del, NM_001324317.2:c.*3605_*3614del, NM_001324317.2:c.*3610_*3614del, NM_001324317.2:c.*3611_*3614del, NM_001324317.2:c.*3612_*3614del, NM_001324317.2:c.*3613_*3614del, NM_001324317.2:c.*3614del, NM_001324317.2:c.*3614dup, NM_001324317.2:c.*3613_*3614dup, NM_001324317.2:c.*3612_*3614dup, NM_001324317.2:c.*3611_*3614dup, NM_001324317.2:c.*3609_*3614dup, NM_001324317.2:c.*3608_*3614dup, NM_001324317.2:c.*3607_*3614dup, NM_001324317.2:c.*3606_*3614dup, NM_001324317.2:c.*3600_*3614dup, NM_001324317.2:c.*3597_*3614T[31]CTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914240556.

rs1491424055 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAC [Show Flanks]
Chromosome:: 10:68486230 (GRCh38)
10:70245988 (GRCh37)
Canonical SPDI:: NC_000010.11:68486230::AAAAC
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAC=0.001433/17 (ALFA)
AAAAC=0.001025/130 (GnomAD)
HGVS:: NC_000010.11:g.68486230_68486231insAAAAC, NC_000010.10:g.70245987_70245988insAAAAC, NG_046972.1:g.46293_46294insGTTTT

Select item 14913988537.

rs1491398853 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 10:68504016 (GRCh38)
10:70263774 (GRCh37)
Canonical SPDI:: NC_000010.11:68504016::TTTT
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.68504016_68504017insTTTT, NC_000010.10:g.70263773_70263774insTTTT, NG_046972.1:g.28507_28508insAAAA

Select item 14913890988.

rs1491389098 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:68522814 (GRCh38)
10:70282571 (GRCh37)
Canonical SPDI:: NC_000010.11:68522813:CA:
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000010.11:g.68522814_68522815del, NC_000010.10:g.70282571_70282572del, NG_046972.1:g.9709_9710del

Select item 14913785399.

rs1491378539 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:68495781 (GRCh38)
10:70255538 (GRCh37)
Canonical SPDI:: NC_000010.11:68495780:CA:
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.68495781_68495782del, NC_000010.10:g.70255538_70255539del, NG_046972.1:g.36742_36743del

Select item 149127808710.

rs1491278087 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:68479817 (GRCh38)
10:70239574 (GRCh37)
Canonical SPDI:: NC_000010.11:68479816:CA:
Gene:: SLC25A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.68479817_68479818del, NC_000010.10:g.70239574_70239575del, NG_046972.1:g.52706_52707del, NM_152707.4:c.*3614_*3615del, NM_001324314.2:c.*3614_*3615del, NM_001324317.2:c.*3614_*3615del

Select item 149126970711.

rs1491269707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TTT [Show Flanks]
Chromosome:: 10:68507068 (GRCh38)
10:70266826 (GRCh37)
Canonical SPDI:: NC_000010.11:68507068:T:TT,NC_000010.11:68507068:T:TTTT
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.00092/15 (ALFA)
T=0.002015/241 (GnomAD)
HGVS:: NC_000010.11:g.68507069dup, NC_000010.11:g.68507069_68507070insTTT, NC_000010.10:g.70266826dup, NC_000010.10:g.70266826_70266827insTTT, NG_046972.1:g.25455dup, NG_046972.1:g.25455_25456insAAA

Select item 149125108112.

rs1491251081 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:68505560 (GRCh38)
10:70265317 (GRCh37)
Canonical SPDI:: NC_000010.11:68505559:AT:
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0023/9 (ALSPAC)
-=0.0024/9 (TWINSUK)
HGVS:: NC_000010.11:g.68505560_68505561del, NC_000010.10:g.70265317_70265318del, NG_046972.1:g.26963_26964del

Select item 149123162613.

rs1491231626 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:68486232 (GRCh38)
10:70245990 (GRCh37)
Canonical SPDI:: NC_000010.11:68486232::G
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.68486232_68486233insG, NC_000010.10:g.70245989_70245990insG, NG_046972.1:g.46291_46292insC

Select item 149120377514.

rs1491203775 has merged into rs11365645 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 10:68528431 (GRCh38)
10:70288188 (GRCh37)
Canonical SPDI:: NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:68528417:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3488/1747 (1000Genomes)
HGVS:: NC_000010.11:g.68528431_68528436del, NC_000010.11:g.68528432_68528436del, NC_000010.11:g.68528433_68528436del, NC_000010.11:g.68528434_68528436del, NC_000010.11:g.68528435_68528436del, NC_000010.11:g.68528436del, NC_000010.11:g.68528436dup, NC_000010.11:g.68528435_68528436dup, NC_000010.11:g.68528434_68528436dup, NC_000010.11:g.68528433_68528436dup, NC_000010.11:g.68528432_68528436dup, NC_000010.10:g.70288188_70288193del, NC_000010.10:g.70288189_70288193del, NC_000010.10:g.70288190_70288193del, NC_000010.10:g.70288191_70288193del, NC_000010.10:g.70288192_70288193del, NC_000010.10:g.70288193del, NC_000010.10:g.70288193dup, NC_000010.10:g.70288192_70288193dup, NC_000010.10:g.70288191_70288193dup, NC_000010.10:g.70288190_70288193dup, NC_000010.10:g.70288189_70288193dup, NG_046972.1:g.4101_4106del, NG_046972.1:g.4102_4106del, NG_046972.1:g.4103_4106del, NG_046972.1:g.4104_4106del, NG_046972.1:g.4105_4106del, NG_046972.1:g.4106del, NG_046972.1:g.4106dup, NG_046972.1:g.4105_4106dup, NG_046972.1:g.4104_4106dup, NG_046972.1:g.4103_4106dup, NG_046972.1:g.4102_4106dup

Select item 149118498915.

rs1491184989 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 10:68495802 (GRCh38)
10:70255559 (GRCh37)
Canonical SPDI:: NC_000010.11:68495800:AGAGA:A,NC_000010.11:68495800:AGAGA:AGA
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.00282/46 (ALFA)
-=0.00032/5 (TOMMO)
HGVS:: NC_000010.11:g.68495802_68495805del, NC_000010.11:g.68495802GA[1], NC_000010.10:g.70255559_70255562del, NC_000010.10:g.70255559GA[1], NG_046972.1:g.36720_36723del, NG_046972.1:g.36720CT[1]

Select item 149117853416.

rs1491178534 has merged into rs58143466 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68522825 (GRCh38)
10:70282582 (GRCh37)
Canonical SPDI:: NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68522814:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68522825_68522838del, NC_000010.11:g.68522826_68522838del, NC_000010.11:g.68522827_68522838del, NC_000010.11:g.68522828_68522838del, NC_000010.11:g.68522829_68522838del, NC_000010.11:g.68522830_68522838del, NC_000010.11:g.68522831_68522838del, NC_000010.11:g.68522832_68522838del, NC_000010.11:g.68522833_68522838del, NC_000010.11:g.68522834_68522838del, NC_000010.11:g.68522835_68522838del, NC_000010.11:g.68522836_68522838del, NC_000010.11:g.68522837_68522838del, NC_000010.11:g.68522838del, NC_000010.11:g.68522838dup, NC_000010.11:g.68522837_68522838dup, NC_000010.11:g.68522836_68522838dup, NC_000010.11:g.68522835_68522838dup, NC_000010.11:g.68522834_68522838dup, NC_000010.11:g.68522838_68522839insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.70282582_70282595del, NC_000010.10:g.70282583_70282595del, NC_000010.10:g.70282584_70282595del, NC_000010.10:g.70282585_70282595del, NC_000010.10:g.70282586_70282595del, NC_000010.10:g.70282587_70282595del, NC_000010.10:g.70282588_70282595del, NC_000010.10:g.70282589_70282595del, NC_000010.10:g.70282590_70282595del, NC_000010.10:g.70282591_70282595del, NC_000010.10:g.70282592_70282595del, NC_000010.10:g.70282593_70282595del, NC_000010.10:g.70282594_70282595del, NC_000010.10:g.70282595del, NC_000010.10:g.70282595dup, NC_000010.10:g.70282594_70282595dup, NC_000010.10:g.70282593_70282595dup, NC_000010.10:g.70282592_70282595dup, NC_000010.10:g.70282591_70282595dup, NC_000010.10:g.70282595_70282596insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046972.1:g.9696_9709del, NG_046972.1:g.9697_9709del, NG_046972.1:g.9698_9709del, NG_046972.1:g.9699_9709del, NG_046972.1:g.9700_9709del, NG_046972.1:g.9701_9709del, NG_046972.1:g.9702_9709del, NG_046972.1:g.9703_9709del, NG_046972.1:g.9704_9709del, NG_046972.1:g.9705_9709del, NG_046972.1:g.9706_9709del, NG_046972.1:g.9707_9709del, NG_046972.1:g.9708_9709del, NG_046972.1:g.9709del, NG_046972.1:g.9709dup, NG_046972.1:g.9708_9709dup, NG_046972.1:g.9707_9709dup, NG_046972.1:g.9706_9709dup, NG_046972.1:g.9705_9709dup, NG_046972.1:g.9709_9710insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149111300917.

rs1491113009 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:68507070 (GRCh38)
10:70266827 (GRCh37)
Canonical SPDI:: NC_000010.11:68507067:CTCT:CT
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000017/2 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.68507068CT[1], NC_000010.10:g.70266825CT[1], NG_046972.1:g.25453AG[1]

Select item 149110417818.

rs1491104178 has merged into rs569434507 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:68486244 (GRCh38)
10:70246001 (GRCh37)
Canonical SPDI:: NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:68486231:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.68486244_68486247del, NC_000010.11:g.68486246_68486247del, NC_000010.11:g.68486247del, NC_000010.11:g.68486247dup, NC_000010.11:g.68486246_68486247dup, NC_000010.11:g.68486245_68486247dup, NC_000010.11:g.68486243_68486247dup, NC_000010.11:g.68486242_68486247dup, NC_000010.11:g.68486240_68486247dup, NC_000010.10:g.70246001_70246004del, NC_000010.10:g.70246003_70246004del, NC_000010.10:g.70246004del, NC_000010.10:g.70246004dup, NC_000010.10:g.70246003_70246004dup, NC_000010.10:g.70246002_70246004dup, NC_000010.10:g.70246000_70246004dup, NC_000010.10:g.70245999_70246004dup, NC_000010.10:g.70245997_70246004dup, NG_046972.1:g.46289_46292del, NG_046972.1:g.46291_46292del, NG_046972.1:g.46292del, NG_046972.1:g.46292dup, NG_046972.1:g.46291_46292dup, NG_046972.1:g.46290_46292dup, NG_046972.1:g.46288_46292dup, NG_046972.1:g.46287_46292dup, NG_046972.1:g.46285_46292dup

Select item 149109219419.

rs1491092194 has merged into rs534962296 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 10:68501258 (GRCh38)
10:70261015 (GRCh37)
Canonical SPDI:: NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAA,NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAAA,NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAAAA,NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:68501250:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
A=0.009342/157 (TOMMO)
A=0.025/1 (GENOME_DK)
A=0.03/18 (NorthernSweden)
A=0.063554/407 (1000Genomes)
HGVS:: NC_000010.11:g.68501258_68501261del, NC_000010.11:g.68501259_68501261del, NC_000010.11:g.68501260_68501261del, NC_000010.11:g.68501261del, NC_000010.11:g.68501261dup, NC_000010.11:g.68501260_68501261dup, NC_000010.10:g.70261015_70261018del, NC_000010.10:g.70261016_70261018del, NC_000010.10:g.70261017_70261018del, NC_000010.10:g.70261018del, NC_000010.10:g.70261018dup, NC_000010.10:g.70261017_70261018dup, NG_046972.1:g.31270_31273del, NG_046972.1:g.31271_31273del, NG_046972.1:g.31272_31273del, NG_046972.1:g.31273del, NG_046972.1:g.31273dup, NG_046972.1:g.31272_31273dup

Select item 149109129320.

rs1491091293 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:68486231 (GRCh38)
10:70245988 (GRCh37)
Canonical SPDI:: NC_000010.11:68486229:ACA:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00074/97 (GnomAD)
HGVS:: NC_000010.11:g.68486231_68486232del, NC_000010.10:g.70245988_70245989del, NG_046972.1:g.46293_46294del

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