SNP Links for Gene (Select 83543) - SNP

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Select item 14914296411.

rs1491429641 has merged into rs3057292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:131113506 (GRCh38)
9:133988893 (GRCh37)
Canonical SPDI:: NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131113497:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.131113506_131113520del, NC_000009.12:g.131113507_131113520del, NC_000009.12:g.131113509_131113520del, NC_000009.12:g.131113513_131113520del, NC_000009.12:g.131113514_131113520del, NC_000009.12:g.131113515_131113520del, NC_000009.12:g.131113516_131113520del, NC_000009.12:g.131113517_131113520del, NC_000009.12:g.131113518_131113520del, NC_000009.12:g.131113519_131113520del, NC_000009.12:g.131113520del, NC_000009.12:g.131113520dup, NC_000009.12:g.131113519_131113520dup, NC_000009.12:g.131113518_131113520dup, NC_000009.12:g.131113517_131113520dup, NC_000009.12:g.131113516_131113520dup, NC_000009.12:g.131113515_131113520dup, NC_000009.12:g.131113514_131113520dup, NC_000009.12:g.131113513_131113520dup, NC_000009.12:g.131113512_131113520dup, NC_000009.12:g.131113511_131113520dup, NC_000009.12:g.131113509_131113520dup, NC_000009.12:g.131113508_131113520dup, NC_000009.11:g.133988893_133988907del, NC_000009.11:g.133988894_133988907del, NC_000009.11:g.133988896_133988907del, NC_000009.11:g.133988900_133988907del, NC_000009.11:g.133988901_133988907del, NC_000009.11:g.133988902_133988907del, NC_000009.11:g.133988903_133988907del, NC_000009.11:g.133988904_133988907del, NC_000009.11:g.133988905_133988907del, NC_000009.11:g.133988906_133988907del, NC_000009.11:g.133988907del, NC_000009.11:g.133988907dup, NC_000009.11:g.133988906_133988907dup, NC_000009.11:g.133988905_133988907dup, NC_000009.11:g.133988904_133988907dup, NC_000009.11:g.133988903_133988907dup, NC_000009.11:g.133988902_133988907dup, NC_000009.11:g.133988901_133988907dup, NC_000009.11:g.133988900_133988907dup, NC_000009.11:g.133988899_133988907dup, NC_000009.11:g.133988898_133988907dup, NC_000009.11:g.133988896_133988907dup, NC_000009.11:g.133988895_133988907dup

Select item 14913826872.

rs1491382687 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:131099729 (GRCh38)
9:133975116 (GRCh37)
Canonical SPDI:: NC_000009.12:131099728:CT:
Gene:: AIF1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.131099729_131099730del, NC_000009.11:g.133975116_133975117del

Select item 14913385463.

rs1491338546 has merged into rs5900920 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:131099742 (GRCh38)
9:133975129 (GRCh37)
Canonical SPDI:: NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.425/17 (GENOME_DK)
T=0.4511/2259 (1000Genomes)
HGVS:: NC_000009.12:g.131099742_131099749del, NC_000009.12:g.131099743_131099749del, NC_000009.12:g.131099746_131099749del, NC_000009.12:g.131099747_131099749del, NC_000009.12:g.131099748_131099749del, NC_000009.12:g.131099749del, NC_000009.12:g.131099749dup, NC_000009.12:g.131099748_131099749dup, NC_000009.12:g.131099747_131099749dup, NC_000009.11:g.133975129_133975136del, NC_000009.11:g.133975130_133975136del, NC_000009.11:g.133975133_133975136del, NC_000009.11:g.133975134_133975136del, NC_000009.11:g.133975135_133975136del, NC_000009.11:g.133975136del, NC_000009.11:g.133975136dup, NC_000009.11:g.133975135_133975136dup, NC_000009.11:g.133975134_133975136dup

Select item 14912903104.

rs1491290310 [Homo sapiens]

Variant type:: SNV:
Alleles:: AG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912831905.

rs1491283190 has merged into rs746698091 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:131115458 (GRCh38)
9:133990845 (GRCh37)
Canonical SPDI:: NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:131115449:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000009.12:g.131115458_131115474del, NC_000009.12:g.131115460_131115474del, NC_000009.12:g.131115461_131115474del, NC_000009.12:g.131115462_131115474del, NC_000009.12:g.131115463_131115474del, NC_000009.12:g.131115464_131115474del, NC_000009.12:g.131115465_131115474del, NC_000009.12:g.131115466_131115474del, NC_000009.12:g.131115467_131115474del, NC_000009.12:g.131115468_131115474del, NC_000009.12:g.131115469_131115474del, NC_000009.12:g.131115470_131115474del, NC_000009.12:g.131115471_131115474del, NC_000009.12:g.131115472_131115474del, NC_000009.12:g.131115473_131115474del, NC_000009.12:g.131115474del, NC_000009.12:g.131115474dup, NC_000009.12:g.131115473_131115474dup, NC_000009.12:g.131115472_131115474dup, NC_000009.12:g.131115471_131115474dup, NC_000009.12:g.131115470_131115474dup, NC_000009.12:g.131115469_131115474dup, NC_000009.12:g.131115468_131115474dup, NC_000009.12:g.131115466_131115474dup, NC_000009.12:g.131115465_131115474dup, NC_000009.12:g.131115464_131115474dup, NC_000009.12:g.131115463_131115474dup, NC_000009.12:g.131115461_131115474dup, NC_000009.12:g.131115460_131115474dup, NC_000009.12:g.131115459_131115474dup, NC_000009.12:g.131115458_131115474dup, NC_000009.11:g.133990845_133990861del, NC_000009.11:g.133990847_133990861del, NC_000009.11:g.133990848_133990861del, NC_000009.11:g.133990849_133990861del, NC_000009.11:g.133990850_133990861del, NC_000009.11:g.133990851_133990861del, NC_000009.11:g.133990852_133990861del, NC_000009.11:g.133990853_133990861del, NC_000009.11:g.133990854_133990861del, NC_000009.11:g.133990855_133990861del, NC_000009.11:g.133990856_133990861del, NC_000009.11:g.133990857_133990861del, NC_000009.11:g.133990858_133990861del, NC_000009.11:g.133990859_133990861del, NC_000009.11:g.133990860_133990861del, NC_000009.11:g.133990861del, NC_000009.11:g.133990861dup, NC_000009.11:g.133990860_133990861dup, NC_000009.11:g.133990859_133990861dup, NC_000009.11:g.133990858_133990861dup, NC_000009.11:g.133990857_133990861dup, NC_000009.11:g.133990856_133990861dup, NC_000009.11:g.133990855_133990861dup, NC_000009.11:g.133990853_133990861dup, NC_000009.11:g.133990852_133990861dup, NC_000009.11:g.133990851_133990861dup, NC_000009.11:g.133990850_133990861dup, NC_000009.11:g.133990848_133990861dup, NC_000009.11:g.133990847_133990861dup, NC_000009.11:g.133990846_133990861dup, NC_000009.11:g.133990845_133990861dup

Select item 14912600196.

rs1491260019 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:131115449 (GRCh38)
9:133990836 (GRCh37)
Canonical SPDI:: NC_000009.12:131115448:CA:
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.131115449_131115450del, NC_000009.11:g.133990836_133990837del

Select item 14911918957.

rs1491191895 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC,GTTGC [Show Flanks]
Chromosome:: 9:131105835 (GRCh38)
9:133981223 (GRCh37)
Canonical SPDI:: NC_000009.12:131105835::GC,NC_000009.12:131105835::GTTGC
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGC=0./0 (ALFA)
GC=0.00007/2 (TOMMO)
GC=0.03147/18 (GnomAD)
HGVS:: NC_000009.12:g.131105835_131105836insGC, NC_000009.12:g.131105835_131105836insGTTGC, NC_000009.11:g.133981222_133981223insGC, NC_000009.11:g.133981222_133981223insGTTGC

Select item 14911835608.

rs1491183560 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:131113497 (GRCh38)
9:133988884 (GRCh37)
Canonical SPDI:: NC_000009.12:131113496:CA:
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04434/526 (ALFA)
-=0.00515/106 (GnomAD)
-=0.00938/260 (TOMMO)
HGVS:: NC_000009.12:g.131113497_131113498del, NC_000009.11:g.133988884_133988885del

Select item 14910574839.

rs1491057483 has merged into rs5900921 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:131104911 (GRCh38)
9:133980298 (GRCh37)
Canonical SPDI:: NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:131104897:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000009.12:g.131104911_131104913del, NC_000009.12:g.131104912_131104913del, NC_000009.12:g.131104913del, NC_000009.12:g.131104913dup, NC_000009.12:g.131104912_131104913dup, NC_000009.12:g.131104911_131104913dup, NC_000009.12:g.131104905_131104913dup, NC_000009.11:g.133980298_133980300del, NC_000009.11:g.133980299_133980300del, NC_000009.11:g.133980300del, NC_000009.11:g.133980300dup, NC_000009.11:g.133980299_133980300dup, NC_000009.11:g.133980298_133980300dup, NC_000009.11:g.133980292_133980300dup

Select item 149102947110.

rs1491029471 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC [Show Flanks]
Chromosome:: 9:131105836 (GRCh38)
9:133981224 (GRCh37)
Canonical SPDI:: NC_000009.12:131105836::GC
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
GC=0.00018/2 (TOMMO)
GC=0.02528/18 (GnomAD)
HGVS:: NC_000009.12:g.131105836_131105837insGC, NC_000009.11:g.133981223_133981224insGC

Select item 149081589911.

rs1490815899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:131097932 (GRCh38)
9:133973319 (GRCh37)
Canonical SPDI:: NC_000009.12:131097931:A:C
Gene:: AIF1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.131097932A>C, NC_000009.11:g.133973319A>C

Select item 149071649112.

rs1490716491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:131112971 (GRCh38)
9:133988358 (GRCh37)
Canonical SPDI:: NC_000009.12:131112970:T:C
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.131112971T>C, NC_000009.11:g.133988358T>C

Select item 149057780813.

rs1490577808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:131099741 (GRCh38)
9:133975128 (GRCh37)
Canonical SPDI:: NC_000009.12:131099740:T:G
Gene:: AIF1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.131099741T>G, NC_000009.11:g.133975128T>G

Select item 149052201114.

rs1490522011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:131098679 (GRCh38)
9:133974066 (GRCh37)
Canonical SPDI:: NC_000009.12:131098678:C:T
Gene:: AIF1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.131098679C>T, NC_000009.11:g.133974066C>T

Select item 149042751815.

rs1490427518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:131113287 (GRCh38)
9:133988674 (GRCh37)
Canonical SPDI:: NC_000009.12:131113286:C:T
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000354/6 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.131113287C>T, NC_000009.11:g.133988674C>T

Select item 149040369916.

rs1490403699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:131106846 (GRCh38)
9:133982233 (GRCh37)
Canonical SPDI:: NC_000009.12:131106845:A:G
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.131106846A>G, NC_000009.11:g.133982233A>G

Select item 149033251417.

rs1490332514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:131113481 (GRCh38)
9:133988868 (GRCh37)
Canonical SPDI:: NC_000009.12:131113480:G:A
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.131113481G>A, NC_000009.11:g.133988868G>A

Select item 148991401718.

rs1489914017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:131106438 (GRCh38)
9:133981825 (GRCh37)
Canonical SPDI:: NC_000009.12:131106437:A:G
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.131106438A>G, NC_000009.11:g.133981825A>G

Select item 148972550619.

rs1489725506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:131115423 (GRCh38)
9:133990810 (GRCh37)
Canonical SPDI:: NC_000009.12:131115422:C:A
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000018/2 (GnomAD)
HGVS:: NC_000009.12:g.131115423C>A, NC_000009.11:g.133990810C>A

Select item 148922625820.

rs1489226258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:131111303 (GRCh38)
9:133986690 (GRCh37)
Canonical SPDI:: NC_000009.12:131111302:G:A,NC_000009.12:131111302:G:T
Gene:: AIF1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.131111303G>A, NC_000009.12:g.131111303G>T, NC_000009.11:g.133986690G>A, NC_000009.11:g.133986690G>T

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