SNP Links for Gene (Select 25771) - SNP

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Select item 14915752751.

rs1491575275 has merged into rs376952972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 22:46941346 (GRCh38)
22:47337242 (GRCh37)
Canonical SPDI:: NC_000022.11:46941334:ATATATATATATATA:ATATATATATA,NC_000022.11:46941334:ATATATATATATATA:ATATATATATATA,NC_000022.11:46941334:ATATATATATATATA:ATATATATATATATATA,NC_000022.11:46941334:ATATATATATATATA:ATATATATATATATATATA
Gene:: TBC1D22A (Varview), LOC105369161 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.00085/14 (TOMMO)
-=0.00109/2 (Korea1K)
-=0.01877/94 (1000Genomes)
HGVS:: NC_000022.11:g.46941336TA[5], NC_000022.11:g.46941336TA[6], NC_000022.11:g.46941336TA[8], NC_000022.11:g.46941336TA[9], NC_000022.10:g.47337232TA[5], NC_000022.10:g.47337232TA[6], NC_000022.10:g.47337232TA[8], NC_000022.10:g.47337232TA[9]

Select item 14915683672.

rs1491568367 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:47191731 (GRCh38)
22:47587481 (GRCh37)
Canonical SPDI:: NC_000022.11:47191730:AG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00021/5 (GnomAD)
HGVS:: NC_000022.11:g.47191731_47191732del, NC_000022.10:g.47587481_47587482del

Select item 14915634503.

rs1491563450 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:47179194 (GRCh38)
22:47574947 (GRCh37)
Canonical SPDI:: NC_000022.11:47179193:CT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.47179194_47179195del, NC_000022.10:g.47574947_47574948del

Select item 14915499474.

rs1491549947 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:47098073 (GRCh38)
22:47493969 (GRCh37)
Canonical SPDI:: NC_000022.11:47098071:AGA:A
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.47098073_47098074del, NC_000022.10:g.47493969_47493970del

Select item 14915489935.

rs1491548993 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGGGAACATATATACGGAATATATATACA,AGGGAATATATATACGGAATATATATACA,AGGGAATATATATATGGAATATATATACA [Show Flanks]
Chromosome:: 22:46941607 (GRCh38)
22:47337504 (GRCh37)
Canonical SPDI:: NC_000022.11:46941607::A,NC_000022.11:46941607::AGGGAACATATATACGGAATATATATACA,NC_000022.11:46941607::AGGGAATATATATACGGAATATATATACA,NC_000022.11:46941607::AGGGAATATATATATGGAATATATATACA
Gene:: TBC1D22A (Varview), LOC105369161 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGGAATATATATACGGAATATATATACA=0.00134/6 (ALFA)
AGGGAATATATATACGGAATATATATACA=0.00103/17 (TOMMO)
HGVS:: NC_000022.11:g.46941607_46941608insA, NC_000022.11:g.46941607_46941608insAGGGAACATATATACGGAATATATATACA, NC_000022.11:g.46941607_46941608insAGGGAATATATATACGGAATATATATACA, NC_000022.11:g.46941607_46941608insAGGGAATATATATATGGAATATATATACA, NC_000022.10:g.47337503_47337504insA, NC_000022.10:g.47337503_47337504insAGGGAACATATATACGGAATATATATACA, NC_000022.10:g.47337503_47337504insAGGGAATATATATACGGAATATATATACA, NC_000022.10:g.47337503_47337504insAGGGAATATATATATGGAATATATATACA

Select item 14915452386.

rs1491545238 has merged into rs747481407 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:46874571 (GRCh38)
22:47270467 (GRCh37)
Canonical SPDI:: NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:46874562:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000022.11:g.46874571_46874592del, NC_000022.11:g.46874573_46874592del, NC_000022.11:g.46874574_46874592del, NC_000022.11:g.46874575_46874592del, NC_000022.11:g.46874576_46874592del, NC_000022.11:g.46874577_46874592del, NC_000022.11:g.46874578_46874592del, NC_000022.11:g.46874579_46874592del, NC_000022.11:g.46874580_46874592del, NC_000022.11:g.46874581_46874592del, NC_000022.11:g.46874582_46874592del, NC_000022.11:g.46874583_46874592del, NC_000022.11:g.46874584_46874592del, NC_000022.11:g.46874585_46874592del, NC_000022.11:g.46874586_46874592del, NC_000022.11:g.46874587_46874592del, NC_000022.11:g.46874588_46874592del, NC_000022.11:g.46874589_46874592del, NC_000022.11:g.46874590_46874592del, NC_000022.11:g.46874591_46874592del, NC_000022.11:g.46874592del, NC_000022.11:g.46874592dup, NC_000022.11:g.46874591_46874592dup, NC_000022.11:g.46874590_46874592dup, NC_000022.11:g.46874589_46874592dup, NC_000022.11:g.46874588_46874592dup, NC_000022.11:g.46874587_46874592dup, NC_000022.11:g.46874586_46874592dup, NC_000022.11:g.46874585_46874592dup, NC_000022.11:g.46874584_46874592dup, NC_000022.11:g.46874583_46874592dup, NC_000022.11:g.46874582_46874592dup, NC_000022.11:g.46874581_46874592dup, NC_000022.11:g.46874580_46874592dup, NC_000022.11:g.46874579_46874592dup, NC_000022.11:g.46874578_46874592dup, NC_000022.11:g.46874577_46874592dup, NC_000022.11:g.46874576_46874592dup, NC_000022.11:g.46874570_46874592dup, NC_000022.10:g.47270467_47270488del, NC_000022.10:g.47270469_47270488del, NC_000022.10:g.47270470_47270488del, NC_000022.10:g.47270471_47270488del, NC_000022.10:g.47270472_47270488del, NC_000022.10:g.47270473_47270488del, NC_000022.10:g.47270474_47270488del, NC_000022.10:g.47270475_47270488del, NC_000022.10:g.47270476_47270488del, NC_000022.10:g.47270477_47270488del, NC_000022.10:g.47270478_47270488del, NC_000022.10:g.47270479_47270488del, NC_000022.10:g.47270480_47270488del, NC_000022.10:g.47270481_47270488del, NC_000022.10:g.47270482_47270488del, NC_000022.10:g.47270483_47270488del, NC_000022.10:g.47270484_47270488del, NC_000022.10:g.47270485_47270488del, NC_000022.10:g.47270486_47270488del, NC_000022.10:g.47270487_47270488del, NC_000022.10:g.47270488del, NC_000022.10:g.47270488dup, NC_000022.10:g.47270487_47270488dup, NC_000022.10:g.47270486_47270488dup, NC_000022.10:g.47270485_47270488dup, NC_000022.10:g.47270484_47270488dup, NC_000022.10:g.47270483_47270488dup, NC_000022.10:g.47270482_47270488dup, NC_000022.10:g.47270481_47270488dup, NC_000022.10:g.47270480_47270488dup, NC_000022.10:g.47270479_47270488dup, NC_000022.10:g.47270478_47270488dup, NC_000022.10:g.47270477_47270488dup, NC_000022.10:g.47270476_47270488dup, NC_000022.10:g.47270475_47270488dup, NC_000022.10:g.47270474_47270488dup, NC_000022.10:g.47270473_47270488dup, NC_000022.10:g.47270472_47270488dup, NC_000022.10:g.47270466_47270488dup

Select item 14915438537.

rs1491543853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAATATATATATACGGAATGTATATACGGAATATATATATG,GAATATATATATATG,GAATATATATATG,GAATATATATATGCAGAATGTATATACGGAATATATATATG,GAATATATATATGCGGAATGTATATACGGAATATATATATG,GAATATATATATGCGGAATGTATATACGGAATATATATATGCGGAATGTATATACGGAATATATATATG,GAATATATATATGCGGAATGTATATACGGAATATATG,GAATATATATATGTGGAATGTATATACGGAATATATATATG,GAATATATATG [Show Flanks]
Chromosome:: 22:46941719 (GRCh38)
22:47337616 (GRCh37)
Canonical SPDI:: NC_000022.11:46941719:G:GGAATATATATATACGGAATGTATATACGGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATATATG,NC_000022.11:46941719:G:GGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATATGCAGAATGTATATACGGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATATGCGGAATGTATATACGGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATATGCGGAATGTATATACGGAATATATATATGCGGAATGTATATACGGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATATGCGGAATGTATATACGGAATATATG,NC_000022.11:46941719:G:GGAATATATATATGTGGAATGTATATACGGAATATATATATG,NC_000022.11:46941719:G:GGAATATATATG
Gene:: TBC1D22A (Varview), LOC105369161 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAATATATATG=0./0 (ALFA)
GGAATATATAT=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46941720_46941721insGAATATATATATACGGAATGTATATACGGAATATATATATG, NC_000022.11:g.46941720_46941721insGAATATATATATATG, NC_000022.11:g.46941720_46941721insGAATATATATATG, NC_000022.11:g.46941720_46941721insGAATATATATATGCAGAATGTATATACGGAATATATATATG, NC_000022.11:g.46941720_46941721insGAATATATATATGCGGAATGTATATACGGAATATATATATG, NC_000022.11:g.46941720GGAATATATATATGCGGAATGTATATAC[2]GGAATATATATATG[1], NC_000022.11:g.46941720_46941721insGAATATATATATGCGGAATGTATATACGGAATATATG, NC_000022.11:g.46941720_46941721insGAATATATATATGTGGAATGTATATACGGAATATATATATG, NC_000022.11:g.46941720_46941721insGAATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATACGGAATGTATATACGGAATATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATGCAGAATGTATATACGGAATATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATGCGGAATGTATATACGGAATATATATATG, NC_000022.10:g.47337616GGAATATATATATGCGGAATGTATATAC[2]GGAATATATATATG[1], NC_000022.10:g.47337616_47337617insGAATATATATATGCGGAATGTATATACGGAATATATG, NC_000022.10:g.47337616_47337617insGAATATATATATGTGGAATGTATATACGGAATATATATATG, NC_000022.10:g.47337616_47337617insGAATATATATG

Select item 14915331078.

rs1491533107 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:47191711 (GRCh38)
22:47587461 (GRCh37)
Canonical SPDI:: NC_000022.11:47191710:AG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00021/8 (GnomAD)
-=0.00033/4 (TOMMO)
HGVS:: NC_000022.11:g.47191711_47191712del, NC_000022.10:g.47587461_47587462del

Select item 14915165479.

rs1491516547 has merged into rs563820647 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 22:47003973 (GRCh38)
22:47399869 (GRCh37)
Canonical SPDI:: NC_000022.11:47003968:ACACAC:ACAC,NC_000022.11:47003968:ACACAC:ACACACAC
Gene:: TBC1D22A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACAC=0./0 (ALFA)
-=0.00182/7 (ALSPAC)
-=0.0027/10 (TWINSUK)
-=0.03574/179 (1000Genomes)
HGVS:: NC_000022.11:g.47003969AC[2], NC_000022.11:g.47003969AC[4], NC_000022.10:g.47399865AC[2], NC_000022.10:g.47399865AC[4]

Select item 149150870610.

rs1491508706 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:47162202 (GRCh38)
22:47557845 (GRCh37)
Canonical SPDI:: NC_000022.11:47162201:GT:
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000034/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.47162202_47162203del, NC_000022.10:g.47557845_47557846del

Select item 149150086611.

rs1491500866 has merged into rs1048527172 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 22:46941605 (GRCh38)
22:47337501 (GRCh37)
Canonical SPDI:: NC_000022.11:46941597:ATATATATA:ATATATA,NC_000022.11:46941597:ATATATATA:ATATATATATA
Gene:: TBC1D22A (Varview), LOC105369161 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000022.11:g.46941599TA[3], NC_000022.11:g.46941599TA[5], NC_000022.10:g.47337495TA[3], NC_000022.10:g.47337495TA[5]

Select item 149149272712.

rs1491492727 [Homo sapiens]

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

Select item 149148221513.

rs1491482215 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGAG,GAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT,GAGAGAG,GAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGG,GAGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGG,GGG,GGGAG,GGGAGAGAAGGAGGT,GGGAGAGAAGGAGGTGGGAGGGG [Show Flanks]
Chromosome:: 22:46878347 (GRCh38)
22:47274244 (GRCh37)
Canonical SPDI:: NC_000022.11:46878347::G,NC_000022.11:46878347::GAGAG,NC_000022.11:46878347::GAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT,NC_000022.11:46878347::GAGAGAG,NC_000022.11:46878347::GAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGG,NC_000022.11:46878347::GAGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGG,NC_000022.11:46878347::GGG,NC_000022.11:46878347::GGGAG,NC_000022.11:46878347::GGGAGAGAAGGAGGT,NC_000022.11:46878347::GGGAGAGAAGGAGGTGGGAGGGG
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.46878347_46878348insG, NC_000022.11:g.46878347_46878348insGAGAG, NC_000022.11:g.46878347_46878348insGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT, NC_000022.11:g.46878347_46878348insGAGAGAG, NC_000022.11:g.46878347_46878348insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGG, NC_000022.11:g.46878347_46878348insGAGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGG, NC_000022.11:g.46878347_46878348insGGG, NC_000022.11:g.46878347_46878348insGGGAG, NC_000022.11:g.46878347_46878348insGGGAGAGAAGGAGGT, NC_000022.11:g.46878347_46878348insGGGAGAGAAGGAGGTGGGAGGGG, NC_000022.10:g.47274243_47274244insG, NC_000022.10:g.47274243_47274244insGAGAG, NC_000022.10:g.47274243_47274244insGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT, NC_000022.10:g.47274243_47274244insGAGAGAG, NC_000022.10:g.47274243_47274244insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGG, NC_000022.10:g.47274243_47274244insGAGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGG, NC_000022.10:g.47274243_47274244insGGG, NC_000022.10:g.47274243_47274244insGGGAG, NC_000022.10:g.47274243_47274244insGGGAGAGAAGGAGGT, NC_000022.10:g.47274243_47274244insGGGAGAGAAGGAGGTGGGAGGGG

Select item 149147646514.

rs1491476465 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 22:46841047 (GRCh38)
22:47236944 (GRCh37)
Canonical SPDI:: NC_000022.11:46841045:GGG:G
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00017/10 (GnomAD)
-=0.00163/25 (TOMMO)
-=0.00565/9 (Korea1K)
HGVS:: NC_000022.11:g.46841047_46841048del, NC_000022.10:g.47236944_47236945del

Select item 149146966515.

rs1491469665 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:46966142 (GRCh38)
22:47362039 (GRCh37)
Canonical SPDI:: NC_000022.11:46966142::C
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.46966142_46966143insC, NC_000022.10:g.47362038_47362039insC

Select item 149146456416.

rs1491464564 has merged into rs1453371828 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACACA>-,TACACATACACA [Show Flanks]
Chromosome:: 22:46909295 (GRCh38)
22:47305191 (GRCh37)
Canonical SPDI:: NC_000022.11:46909287:ATACACATACACA:ATACACA,NC_000022.11:46909287:ATACACATACACA:ATACACATACACATACACA
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACATACACATACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
ATACAC=0.000017/2 (GnomAD)
ATACAC=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.46909289TACACA[1], NC_000022.11:g.46909289TACACA[3], NC_000022.10:g.47305185TACACA[1], NC_000022.10:g.47305185TACACA[3]

Select item 149146397817.

rs1491463978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC [Show Flanks]
Chromosome:: 22:46914012 (GRCh38)
22:47309908 (GRCh37)
Canonical SPDI:: NC_000022.11:46914008:CACACAC:CAC,NC_000022.11:46914008:CACACAC:CACAC
Gene:: TBC1D22A (Varview), TBC1D22A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0.000094/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.46914010AC[1], NC_000022.11:g.46914010AC[2], NC_000022.10:g.47309906AC[1], NC_000022.10:g.47309906AC[2], XR_007067970.1:n.1829AC[1], XR_007067970.1:n.1829AC[2]

Select item 149146120518.

rs1491461205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 22:46847919 (GRCh38)
22:47243817 (GRCh37)
Canonical SPDI:: NC_000022.11:46847919:T:TAT
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000022.11:g.46847920_46847921insAT, NC_000022.10:g.47243817_47243818insAT

Select item 149145799919.

rs1491457999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 22:47212414 (GRCh38)
22:47608165 (GRCh37)
Canonical SPDI:: NC_000022.11:47212414:G:GCG
Validated:: by frequency,by cluster
MAF:: GC=0.000022/3 (GnomAD)
GC=0.000425/12 (TOMMO)
HGVS:: NC_000022.11:g.47212415_47212416insCG, NC_000022.10:g.47608165_47608166insCG

Select item 149145124020.

rs1491451240 has merged into rs1555909324 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 22:46841084 (GRCh38)
22:47236981 (GRCh37)
Canonical SPDI:: NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000022.11:46841073:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA
Gene:: TBC1D22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGA=0./0 (ALFA)
-=0.00014/37 (TOPMED)
HGVS:: NC_000022.11:g.46841074GA[5], NC_000022.11:g.46841074GA[6], NC_000022.11:g.46841074GA[7], NC_000022.11:g.46841074GA[8], NC_000022.11:g.46841074GA[10], NC_000022.11:g.46841074GA[11], NC_000022.11:g.46841074GA[12], NC_000022.10:g.47236971GA[5], NC_000022.10:g.47236971GA[6], NC_000022.10:g.47236971GA[7], NC_000022.10:g.47236971GA[8], NC_000022.10:g.47236971GA[10], NC_000022.10:g.47236971GA[11], NC_000022.10:g.47236971GA[12]

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