SNP Links for Gene (Select 9363) - SNP

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Select item 14915715851.

rs1491571585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: X:130146449 (GRCh38)
X:129280425 (GRCh37)
Canonical SPDI:: NC_000023.11:130146449:T:TGTGT,NC_000023.11:130146449:T:TGTGTGT,NC_000023.11:130146449:T:TGTGTGTGT
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.130146450_130146451insGTGT, NC_000023.11:g.130146451GT[3], NC_000023.11:g.130146451GT[4], NC_000023.10:g.129280425_129280426insGTGT, NC_000023.10:g.129280426GT[3], NC_000023.10:g.129280426GT[4], NG_013217.2:g.24391_24392insCACA, NG_013217.2:g.24392CA[3], NG_013217.2:g.24392CA[4], NG_013217.1:g.24384_24385insCACA, NG_013217.1:g.24385CA[3], NG_013217.1:g.24385CA[4]

Select item 14915474452.

rs1491547445 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:130148833 (GRCh38)
X:129282808 (GRCh37)
Canonical SPDI:: NC_000023.11:130148832:CA:
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.130148833_130148834del, NC_000023.10:g.129282808_129282809del, NG_013217.2:g.22007_22008del, NG_013217.1:g.22000_22001del

Select item 14915145093.

rs1491514509 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:130164167 (GRCh38)
X:129298141 (GRCh37)
Canonical SPDI:: NC_000023.11:130164166:CA:
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00194/23 (ALFA)
-=0.00032/17 (GnomAD)
HGVS:: NC_000023.11:g.130164167_130164168del, NC_000023.10:g.129298141_129298142del, NG_013217.2:g.6673_6674del, NG_013217.1:g.6667_6668del

Select item 14915116494.

rs1491511649 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:130113427 (GRCh38)
X:129247402 (GRCh37)
Canonical SPDI:: NC_000023.11:130113426:AT:
Gene:: ELF4 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/6 (GnomAD)
-=0.00009/2 (TOMMO)
HGVS:: NC_000023.11:g.130113427_130113428del, NC_000023.10:g.129247402_129247403del, NG_016388.1:g.2286_2287del

Select item 14914833055.

rs1491483305 has merged into rs58550736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:130123712 (GRCh38)
X:129257687 (GRCh37)
Canonical SPDI:: NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130123700:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB33A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0.05/2 (GENOME_DK)
HGVS:: NC_000023.11:g.130123712_130123726del, NC_000023.11:g.130123713_130123726del, NC_000023.11:g.130123714_130123726del, NC_000023.11:g.130123715_130123726del, NC_000023.11:g.130123716_130123726del, NC_000023.11:g.130123717_130123726del, NC_000023.11:g.130123718_130123726del, NC_000023.11:g.130123719_130123726del, NC_000023.11:g.130123720_130123726del, NC_000023.11:g.130123721_130123726del, NC_000023.11:g.130123722_130123726del, NC_000023.11:g.130123723_130123726del, NC_000023.11:g.130123724_130123726del, NC_000023.11:g.130123725_130123726del, NC_000023.11:g.130123726del, NC_000023.11:g.130123726dup, NC_000023.11:g.130123725_130123726dup, NC_000023.11:g.130123724_130123726dup, NC_000023.11:g.130123723_130123726dup, NC_000023.10:g.129257687_129257701del, NC_000023.10:g.129257688_129257701del, NC_000023.10:g.129257689_129257701del, NC_000023.10:g.129257690_129257701del, NC_000023.10:g.129257691_129257701del, NC_000023.10:g.129257692_129257701del, NC_000023.10:g.129257693_129257701del, NC_000023.10:g.129257694_129257701del, NC_000023.10:g.129257695_129257701del, NC_000023.10:g.129257696_129257701del, NC_000023.10:g.129257697_129257701del, NC_000023.10:g.129257698_129257701del, NC_000023.10:g.129257699_129257701del, NC_000023.10:g.129257700_129257701del, NC_000023.10:g.129257701del, NC_000023.10:g.129257701dup, NC_000023.10:g.129257700_129257701dup, NC_000023.10:g.129257699_129257701dup, NC_000023.10:g.129257698_129257701dup

Select item 14914375296.

rs1491437529 has merged into rs34300441 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:130113438 (GRCh38)
X:129247413 (GRCh37)
Canonical SPDI:: NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ELF4 (Varview), RAB33A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.130113438_130113440del, NC_000023.11:g.130113439_130113440del, NC_000023.11:g.130113440del, NC_000023.11:g.130113440dup, NC_000023.11:g.130113439_130113440dup, NC_000023.10:g.129247413_129247415del, NC_000023.10:g.129247414_129247415del, NC_000023.10:g.129247415del, NC_000023.10:g.129247415dup, NC_000023.10:g.129247414_129247415dup, NG_016388.1:g.2284_2286del, NG_016388.1:g.2285_2286del, NG_016388.1:g.2286del, NG_016388.1:g.2286dup, NG_016388.1:g.2285_2286dup

Select item 14913946537.

rs1491394653 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:130123700 (GRCh38)
X:129257675 (GRCh37)
Canonical SPDI:: NC_000023.11:130123699:CA:
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.130123700_130123701del, NC_000023.10:g.129257675_129257676del

Select item 14913164278.

rs1491316427 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGCACACACACACGC [Show Flanks]
Chromosome:: X:130171940 (GRCh38)
X:129305915 (GRCh37)
Canonical SPDI:: NC_000023.11:130171940:CACACACACACGCGCGCACACACACACGC:CACACACACACGCGCGCACACACACACGCGCGCACACACACACGC
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACGCGCGCACACACACACGCGCGCACACACACACGC=0./0 (ALFA)
HGVS:: NC_000023.11:g.130171954_130171969dup, NC_000023.10:g.129305928_129305943dup, NG_012558.1:g.5156_5171dup

Select item 14912457549.

rs1491245754 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:130146451 (GRCh38)
X:129280426 (GRCh37)
Canonical SPDI:: NC_000023.11:130146448:ATAT:AT
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00034/4 (ALFA)
-=0.00104/5 (1000Genomes)
-=0.00116/73 (GnomAD)
HGVS:: NC_000023.11:g.130146449AT[1], NC_000023.10:g.129280424AT[1], NG_013217.2:g.24389AT[1], NG_013217.1:g.24382AT[1]

Select item 149114196210.

rs1491141962 has merged into rs56353862 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:130148845 (GRCh38)
X:129282820 (GRCh37)
Canonical SPDI:: NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130148833:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.132185/499 (1000Genomes)
HGVS:: NC_000023.11:g.130148845_130148859del, NC_000023.11:g.130148846_130148859del, NC_000023.11:g.130148847_130148859del, NC_000023.11:g.130148848_130148859del, NC_000023.11:g.130148849_130148859del, NC_000023.11:g.130148850_130148859del, NC_000023.11:g.130148851_130148859del, NC_000023.11:g.130148852_130148859del, NC_000023.11:g.130148853_130148859del, NC_000023.11:g.130148855_130148859del, NC_000023.11:g.130148856_130148859del, NC_000023.11:g.130148857_130148859del, NC_000023.11:g.130148858_130148859del, NC_000023.11:g.130148859del, NC_000023.11:g.130148859dup, NC_000023.11:g.130148858_130148859dup, NC_000023.11:g.130148857_130148859dup, NC_000023.11:g.130148856_130148859dup, NC_000023.11:g.130148854_130148859dup, NC_000023.10:g.129282820_129282834del, NC_000023.10:g.129282821_129282834del, NC_000023.10:g.129282822_129282834del, NC_000023.10:g.129282823_129282834del, NC_000023.10:g.129282824_129282834del, NC_000023.10:g.129282825_129282834del, NC_000023.10:g.129282826_129282834del, NC_000023.10:g.129282827_129282834del, NC_000023.10:g.129282828_129282834del, NC_000023.10:g.129282830_129282834del, NC_000023.10:g.129282831_129282834del, NC_000023.10:g.129282832_129282834del, NC_000023.10:g.129282833_129282834del, NC_000023.10:g.129282834del, NC_000023.10:g.129282834dup, NC_000023.10:g.129282833_129282834dup, NC_000023.10:g.129282832_129282834dup, NC_000023.10:g.129282831_129282834dup, NC_000023.10:g.129282829_129282834dup, NG_013217.2:g.21993_22007del, NG_013217.2:g.21994_22007del, NG_013217.2:g.21995_22007del, NG_013217.2:g.21996_22007del, NG_013217.2:g.21997_22007del, NG_013217.2:g.21998_22007del, NG_013217.2:g.21999_22007del, NG_013217.2:g.22000_22007del, NG_013217.2:g.22001_22007del, NG_013217.2:g.22003_22007del, NG_013217.2:g.22004_22007del, NG_013217.2:g.22005_22007del, NG_013217.2:g.22006_22007del, NG_013217.2:g.22007del, NG_013217.2:g.22007dup, NG_013217.2:g.22006_22007dup, NG_013217.2:g.22005_22007dup, NG_013217.2:g.22004_22007dup, NG_013217.2:g.22002_22007dup, NG_013217.1:g.21986_22000del, NG_013217.1:g.21987_22000del, NG_013217.1:g.21988_22000del, NG_013217.1:g.21989_22000del, NG_013217.1:g.21990_22000del, NG_013217.1:g.21991_22000del, NG_013217.1:g.21992_22000del, NG_013217.1:g.21993_22000del, NG_013217.1:g.21994_22000del, NG_013217.1:g.21996_22000del, NG_013217.1:g.21997_22000del, NG_013217.1:g.21998_22000del, NG_013217.1:g.21999_22000del, NG_013217.1:g.22000del, NG_013217.1:g.22000dup, NG_013217.1:g.21999_22000dup, NG_013217.1:g.21998_22000dup, NG_013217.1:g.21997_22000dup, NG_013217.1:g.21995_22000dup

Select item 149111405411.

rs1491114054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:130115663 (GRCh38)
X:129249638 (GRCh37)
Canonical SPDI:: NC_000023.11:130115661:AAA:A
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00329/39 (ALFA)
-=0.00334/294 (GnomAD)
-=0.00761/97 (TOMMO)
HGVS:: NC_000023.11:g.130115663_130115664del, NC_000023.10:g.129249638_129249639del, NG_016388.1:g.51_52del

Select item 149107913412.

rs1491079134 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:130116122 (GRCh38)
X:129250097 (GRCh37)
Canonical SPDI:: NC_000023.11:130116121:TG:
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.130116122_130116123del, NC_000023.10:g.129250097_129250098del

Select item 149106153713.

rs1491061537 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACGCGC [Show Flanks]
Chromosome:: X:130171942 (GRCh38)
X:129305917 (GRCh37)
Canonical SPDI:: NC_000023.11:130171942:CACACACACGCGC:CACACACACGCGCACACACACGCGC
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACACACACGCGCACACACACGCGC=0./0 (ALFA)
CACACACACGCG=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130171944_130171955dup, NC_000023.10:g.129305918_129305929dup, NG_012558.1:g.5146_5157dup, NM_004794.2:c.-119_-108dup

Select item 149097732914.

rs1490977329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130128158 (GRCh38)
X:129262133 (GRCh37)
Canonical SPDI:: NC_000023.11:130128157:C:T
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.130128158C>T, NC_000023.10:g.129262133C>T, NG_013217.2:g.42683G>A, NG_013217.1:g.42676G>A

Select item 149088244915.

rs1490882449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:130161727 (GRCh38)
X:129295701 (GRCh37)
Canonical SPDI:: NC_000023.11:130161726:C:A,NC_000023.11:130161726:C:G
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00004/4 (GnomAD)
HGVS:: NC_000023.11:g.130161727C>A, NC_000023.11:g.130161727C>G, NC_000023.10:g.129295701C>A, NC_000023.10:g.129295701C>G, NG_013217.2:g.9114G>T, NG_013217.2:g.9114G>C, NG_013217.1:g.9108G>T, NG_013217.1:g.9108G>C

Select item 149078773516.

rs1490787735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130116440 (GRCh38)
X:129250415 (GRCh37)
Canonical SPDI:: NC_000023.11:130116439:C:T
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.130116440C>T, NC_000023.10:g.129250415C>T

Select item 149074876717.

rs1490748767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130138326 (GRCh38)
X:129272301 (GRCh37)
Canonical SPDI:: NC_000023.11:130138325:G:A
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000039/4 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.130138326G>A, NC_000023.10:g.129272301G>A, NG_013217.2:g.32515C>T, NG_013217.1:g.32508C>T

Select item 149070273718.

rs1490702737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130139517 (GRCh38)
X:129273492 (GRCh37)
Canonical SPDI:: NC_000023.11:130139516:C:T
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130139517C>T, NC_000023.10:g.129273492C>T, NG_013217.2:g.31324G>A, NG_013217.1:g.31317G>A

Select item 149069002219.

rs1490690022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:130160361 (GRCh38)
X:129294335 (GRCh37)
Canonical SPDI:: NC_000023.11:130160360:A:G
Gene:: AIFM1 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130160361A>G, NC_000023.10:g.129294335A>G, NG_013217.2:g.10480T>C, NG_013217.1:g.10474T>C

Select item 149066978120.

rs1490669781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130111135 (GRCh38)
X:129245110 (GRCh37)
Canonical SPDI:: NC_000023.11:130111134:C:T
Gene:: ELF4 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/3 (GnomAD)
T=0.001575/20 (TOMMO)
HGVS:: NC_000023.11:g.130111135C>T, NC_000023.10:g.129245110C>T, NG_016388.1:g.4579G>A

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