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Select item 14915731291.

rs1491573129 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:90029961 (GRCh38)
16:90096369 (GRCh37)
Canonical SPDI:: NC_000016.10:90029958:GTGT:GT
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.90029959GT[1], NC_000016.9:g.90096367GT[1], NG_046598.1:g.15331GT[1], NG_054714.1:g.4940AC[1]

Select item 14914929942.

rs1491492994 has merged into rs527797525 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:90028185 (GRCh38)
16:90094593 (GRCh37)
Canonical SPDI:: NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:90028173:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.90028185_90028202del, NC_000016.10:g.90028187_90028202del, NC_000016.10:g.90028188_90028202del, NC_000016.10:g.90028189_90028202del, NC_000016.10:g.90028190_90028202del, NC_000016.10:g.90028191_90028202del, NC_000016.10:g.90028192_90028202del, NC_000016.10:g.90028193_90028202del, NC_000016.10:g.90028194_90028202del, NC_000016.10:g.90028195_90028202del, NC_000016.10:g.90028196_90028202del, NC_000016.10:g.90028197_90028202del, NC_000016.10:g.90028198_90028202del, NC_000016.10:g.90028199_90028202del, NC_000016.10:g.90028200_90028202del, NC_000016.10:g.90028201_90028202del, NC_000016.10:g.90028202del, NC_000016.10:g.90028202dup, NC_000016.10:g.90028201_90028202dup, NC_000016.10:g.90028200_90028202dup, NC_000016.10:g.90028199_90028202dup, NC_000016.10:g.90028198_90028202dup, NC_000016.10:g.90028197_90028202dup, NC_000016.10:g.90028196_90028202dup, NC_000016.10:g.90028195_90028202dup, NC_000016.10:g.90028194_90028202dup, NC_000016.10:g.90028193_90028202dup, NC_000016.10:g.90028192_90028202dup, NC_000016.10:g.90028191_90028202dup, NC_000016.10:g.90028190_90028202dup, NC_000016.10:g.90028189_90028202dup, NC_000016.10:g.90028188_90028202dup, NC_000016.10:g.90028187_90028202dup, NC_000016.10:g.90028186_90028202dup, NC_000016.10:g.90028185_90028202dup, NC_000016.10:g.90028184_90028202dup, NC_000016.10:g.90028181_90028202dup, NC_000016.10:g.90028175_90028202dup, NC_000016.10:g.90028202_90028203insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.90094593_90094610del, NC_000016.9:g.90094595_90094610del, NC_000016.9:g.90094596_90094610del, NC_000016.9:g.90094597_90094610del, NC_000016.9:g.90094598_90094610del, NC_000016.9:g.90094599_90094610del, NC_000016.9:g.90094600_90094610del, NC_000016.9:g.90094601_90094610del, NC_000016.9:g.90094602_90094610del, NC_000016.9:g.90094603_90094610del, NC_000016.9:g.90094604_90094610del, NC_000016.9:g.90094605_90094610del, NC_000016.9:g.90094606_90094610del, NC_000016.9:g.90094607_90094610del, NC_000016.9:g.90094608_90094610del, NC_000016.9:g.90094609_90094610del, NC_000016.9:g.90094610del, NC_000016.9:g.90094610dup, NC_000016.9:g.90094609_90094610dup, NC_000016.9:g.90094608_90094610dup, NC_000016.9:g.90094607_90094610dup, NC_000016.9:g.90094606_90094610dup, NC_000016.9:g.90094605_90094610dup, NC_000016.9:g.90094604_90094610dup, NC_000016.9:g.90094603_90094610dup, NC_000016.9:g.90094602_90094610dup, NC_000016.9:g.90094601_90094610dup, NC_000016.9:g.90094600_90094610dup, NC_000016.9:g.90094599_90094610dup, NC_000016.9:g.90094598_90094610dup, NC_000016.9:g.90094597_90094610dup, NC_000016.9:g.90094596_90094610dup, NC_000016.9:g.90094595_90094610dup, NC_000016.9:g.90094594_90094610dup, NC_000016.9:g.90094593_90094610dup, NC_000016.9:g.90094592_90094610dup, NC_000016.9:g.90094589_90094610dup, NC_000016.9:g.90094583_90094610dup, NC_000016.9:g.90094610_90094611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046598.1:g.13557_13574del, NG_046598.1:g.13559_13574del, NG_046598.1:g.13560_13574del, NG_046598.1:g.13561_13574del, NG_046598.1:g.13562_13574del, NG_046598.1:g.13563_13574del, NG_046598.1:g.13564_13574del, NG_046598.1:g.13565_13574del, NG_046598.1:g.13566_13574del, NG_046598.1:g.13567_13574del, NG_046598.1:g.13568_13574del, NG_046598.1:g.13569_13574del, NG_046598.1:g.13570_13574del, NG_046598.1:g.13571_13574del, NG_046598.1:g.13572_13574del, NG_046598.1:g.13573_13574del, NG_046598.1:g.13574del, NG_046598.1:g.13574dup, NG_046598.1:g.13573_13574dup, NG_046598.1:g.13572_13574dup, NG_046598.1:g.13571_13574dup, NG_046598.1:g.13570_13574dup, NG_046598.1:g.13569_13574dup, NG_046598.1:g.13568_13574dup, NG_046598.1:g.13567_13574dup, NG_046598.1:g.13566_13574dup, NG_046598.1:g.13565_13574dup, NG_046598.1:g.13564_13574dup, NG_046598.1:g.13563_13574dup, NG_046598.1:g.13562_13574dup, NG_046598.1:g.13561_13574dup, NG_046598.1:g.13560_13574dup, NG_046598.1:g.13559_13574dup, NG_046598.1:g.13558_13574dup, NG_046598.1:g.13557_13574dup, NG_046598.1:g.13556_13574dup, NG_046598.1:g.13553_13574dup, NG_046598.1:g.13547_13574dup, NG_046598.1:g.13574_13575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054714.1:g.6711_6728del, NG_054714.1:g.6713_6728del, NG_054714.1:g.6714_6728del, NG_054714.1:g.6715_6728del, NG_054714.1:g.6716_6728del, NG_054714.1:g.6717_6728del, NG_054714.1:g.6718_6728del, NG_054714.1:g.6719_6728del, NG_054714.1:g.6720_6728del, NG_054714.1:g.6721_6728del, NG_054714.1:g.6722_6728del, NG_054714.1:g.6723_6728del, NG_054714.1:g.6724_6728del, NG_054714.1:g.6725_6728del, NG_054714.1:g.6726_6728del, NG_054714.1:g.6727_6728del, NG_054714.1:g.6728del, NG_054714.1:g.6728dup, NG_054714.1:g.6727_6728dup, NG_054714.1:g.6726_6728dup, NG_054714.1:g.6725_6728dup, NG_054714.1:g.6724_6728dup, NG_054714.1:g.6723_6728dup, NG_054714.1:g.6722_6728dup, NG_054714.1:g.6721_6728dup, NG_054714.1:g.6720_6728dup, NG_054714.1:g.6719_6728dup, NG_054714.1:g.6718_6728dup, NG_054714.1:g.6717_6728dup, NG_054714.1:g.6716_6728dup, NG_054714.1:g.6715_6728dup, NG_054714.1:g.6714_6728dup, NG_054714.1:g.6713_6728dup, NG_054714.1:g.6712_6728dup, NG_054714.1:g.6711_6728dup, NG_054714.1:g.6710_6728dup, NG_054714.1:g.6707_6728dup, NG_054714.1:g.6701_6728dup, NG_054714.1:g.6728_6729insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914668833.

rs1491466883 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:90027090 (GRCh38)
16:90093499 (GRCh37)
Canonical SPDI:: NC_000016.10:90027090::C
Gene:: GAS8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00005/3 (GnomAD)
HGVS:: NC_000016.10:g.90027090_90027091insC, NC_000016.9:g.90093498_90093499insC, NG_046598.1:g.12462_12463insC, NG_054714.1:g.7811_7812insG

Select item 14914557204.

rs1491455720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:90029959 (GRCh38)
16:90096368 (GRCh37)
Canonical SPDI:: NC_000016.10:90029959:T:TT
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000016.10:g.90029960dup, NC_000016.9:g.90096368dup, NG_046598.1:g.15332dup, NG_054714.1:g.4942dup

Select item 14914483375.

rs1491448337 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:90030528 (GRCh38)
16:90096937 (GRCh37)
Canonical SPDI:: NC_000016.10:90030528:G:GG
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.002787/298 (GnomAD)
HGVS:: NC_000016.10:g.90030529dup, NC_000016.9:g.90096937dup, NG_046598.1:g.15901dup, NG_054714.1:g.4373dup

Select item 14913373816.

rs1491337381 has merged into rs35606607 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:90027101 (GRCh38)
16:90093509 (GRCh37)
Canonical SPDI:: NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:90027089:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GAS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3163/1584 (1000Genomes)
HGVS:: NC_000016.10:g.90027101_90027103del, NC_000016.10:g.90027102_90027103del, NC_000016.10:g.90027103del, NC_000016.10:g.90027103dup, NC_000016.10:g.90027102_90027103dup, NC_000016.10:g.90027101_90027103dup, NC_000016.10:g.90027100_90027103dup, NC_000016.10:g.90027094_90027103dup, NC_000016.9:g.90093509_90093511del, NC_000016.9:g.90093510_90093511del, NC_000016.9:g.90093511del, NC_000016.9:g.90093511dup, NC_000016.9:g.90093510_90093511dup, NC_000016.9:g.90093509_90093511dup, NC_000016.9:g.90093508_90093511dup, NC_000016.9:g.90093502_90093511dup, NG_046598.1:g.12473_12475del, NG_046598.1:g.12474_12475del, NG_046598.1:g.12475del, NG_046598.1:g.12475dup, NG_046598.1:g.12474_12475dup, NG_046598.1:g.12473_12475dup, NG_046598.1:g.12472_12475dup, NG_046598.1:g.12466_12475dup, NG_054714.1:g.7810_7812del, NG_054714.1:g.7811_7812del, NG_054714.1:g.7812del, NG_054714.1:g.7812dup, NG_054714.1:g.7811_7812dup, NG_054714.1:g.7810_7812dup, NG_054714.1:g.7809_7812dup, NG_054714.1:g.7803_7812dup

Select item 14912963097.

rs1491296309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:90029188 (GRCh38)
16:90095596 (GRCh37)
Canonical SPDI:: NC_000016.10:90029186:TAT:T
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.001152/276 (GnomAD_exomes)
-=0.001467/161 (ExAC)
-=0.00481/667 (GnomAD)
HGVS:: NC_000016.10:g.90029188_90029189del, NC_000016.9:g.90095596_90095597del, NG_046598.1:g.14560_14561del, NG_054714.1:g.5714_5715del, NR_122031.1:n.714_715del, NM_001214.3:c.155_156del

Select item 14912440458.

rs1491244045 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:90030529 (GRCh38)
16:90096937 (GRCh37)
Canonical SPDI:: NC_000016.10:90030527:TGT:T
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.90030529_90030530del, NC_000016.9:g.90096937_90096938del, NG_046598.1:g.15901_15902del, NG_054714.1:g.4373_4374del

Select item 14911048979.

rs1491104897 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:90028173 (GRCh38)
16:90094581 (GRCh37)
Canonical SPDI:: NC_000016.10:90028172:AT:
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.90028173_90028174del, NC_000016.9:g.90094581_90094582del, NG_046598.1:g.13545_13546del, NG_054714.1:g.6728_6729del

Select item 149099268110.

rs1490992681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:90028304 (GRCh38)
16:90094712 (GRCh37)
Canonical SPDI:: NC_000016.10:90028303:C:T
Gene:: GAS8 (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_000016.10:g.90028304C>T, NC_000016.9:g.90094712C>T, NG_046598.1:g.13676C>T, NG_054714.1:g.6598G>A

Select item 149070073711.

rs1490700737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:90032236 (GRCh38)
16:90098644 (GRCh37)
Canonical SPDI:: NC_000016.10:90032235:A:G
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.90032236A>G, NC_000016.9:g.90098644A>G, NG_046598.1:g.17608A>G, NG_054714.1:g.2666T>C

Select item 149059421812.

rs1490594218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:90033483 (GRCh38)
16:90099891 (GRCh37)
Canonical SPDI:: NC_000016.10:90033482:T:C
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.90033483T>C, NC_000016.9:g.90099891T>C, NG_046598.1:g.18855T>C, NG_054714.1:g.1419A>G

Select item 149056445613.

rs1490564456 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGGGACAGCCTACGGGGCAGGCT [Show Flanks]
Chromosome:: 16:90029193 (GRCh38)
16:90095602 (GRCh37)
Canonical SPDI:: NC_000016.10:90029193:CAGCCTACGGGGCAGGCT:CAGCCTACGGGGCAGGCTGCGGGACAGCCTACGGGGCAGGCT
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000016.10:g.90029211_90029212insGCGGGACAGCCTACGGGGCAGGCT, NC_000016.9:g.90095619_90095620insGCGGGACAGCCTACGGGGCAGGCT, NG_046598.1:g.14583_14584insGCGGGACAGCCTACGGGGCAGGCT, NG_054714.1:g.5708_5709insTCCCGCAGCCTGCCCCGTAGGCTG, NR_122031.1:n.708_709insTCCCGCAGCCTGCCCCGTAGGCTG, NM_001214.3:c.149_150insTCCCGCAGCCTGCCCCGTAGGCTG

Select item 149052847914.

rs1490528479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:90031471 (GRCh38)
16:90097879 (GRCh37)
Canonical SPDI:: NC_000016.10:90031470:A:G
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.90031471A>G, NC_000016.9:g.90097879A>G, NG_046598.1:g.16843A>G, NM_001481.3:c.263A>G, NM_001481.2:c.263A>G, NM_001286205.2:c.14A>G, NM_001286205.1:c.14A>G, NM_001286209.2:c.188A>G, NM_001286209.1:c.188A>G, NM_001286208.2:c.-259A>G, NM_001286208.1:c.-259A>G, NG_054714.1:g.3431T>C, XM_006721175.4:c.14A>G, XM_006721175.3:c.14A>G, XM_006721175.2:c.14A>G, XM_006721175.1:c.14A>G, XM_011522992.3:c.14A>G, XM_011522992.2:c.14A>G, XM_011522992.1:c.14A>G, NR_023348.1:n.494A>G, NP_001472.1:p.Glu88Gly, NP_001273134.1:p.Glu5Gly, NP_001273138.1:p.Glu63Gly, XP_006721238.1:p.Glu5Gly, XP_011521294.1:p.Glu5Gly

Select item 149015191915.

rs1490151919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:90034652 (GRCh38)
16:90101060 (GRCh37)
Canonical SPDI:: NC_000016.10:90034651:A:T
Gene:: GAS8 (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_000016.10:g.90034652A>T, NC_000016.9:g.90101060A>T, NG_046598.1:g.20024A>T, NG_054714.1:g.250T>A

Select item 149010017916.

rs1490100179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:90033925 (GRCh38)
16:90100333 (GRCh37)
Canonical SPDI:: NC_000016.10:90033924:C:G,NC_000016.10:90033924:C:T
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.90033925C>G, NC_000016.10:g.90033925C>T, NC_000016.9:g.90100333C>G, NC_000016.9:g.90100333C>T, NG_046598.1:g.19297C>G, NG_046598.1:g.19297C>T, NG_054714.1:g.977G>C, NG_054714.1:g.977G>A

Select item 148995610817.

rs1489956108 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:90028247 (GRCh38)
16:90094655 (GRCh37)
Canonical SPDI:: NC_000016.10:90028246:C:
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000038/5 (GnomAD)
HGVS:: NC_000016.10:g.90028247del, NC_000016.9:g.90094655del, NG_046598.1:g.13619del, NG_054714.1:g.6655del

Select item 148971870018.

rs1489718700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:90029149 (GRCh38)
16:90095557 (GRCh37)
Canonical SPDI:: NC_000016.10:90029148:C:G
Gene:: GAS8-AS1 (Varview), GAS8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00084/10 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.90029149C>G, NC_000016.9:g.90095557C>G, NG_046598.1:g.14521C>G, NG_054714.1:g.5753G>C, NR_122031.1:n.753G>C, NM_001214.3:c.194G>C

Select item 148959842319.

rs1489598423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:90027136 (GRCh38)
16:90093544 (GRCh37)
Canonical SPDI:: NC_000016.10:90027135:A:G
Gene:: GAS8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.90027136A>G, NC_000016.9:g.90093544A>G, NG_046598.1:g.12508A>G, NG_054714.1:g.7766T>C

Select item 148936573720.

rs1489365737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:90028309 (GRCh38)
16:90094717 (GRCh37)
Canonical SPDI:: NC_000016.10:90028308:C:A,NC_000016.10:90028308:C:G,NC_000016.10:90028308:C:T
Gene:: GAS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000035/1 (TOMMO)
T=0.000064/17 (TOPMED)
HGVS:: NC_000016.10:g.90028309C>A, NC_000016.10:g.90028309C>G, NC_000016.10:g.90028309C>T, NC_000016.9:g.90094717C>A, NC_000016.9:g.90094717C>G, NC_000016.9:g.90094717C>T, NG_046598.1:g.13681C>A, NG_046598.1:g.13681C>G, NG_046598.1:g.13681C>T, NG_054714.1:g.6593G>T, NG_054714.1:g.6593G>C, NG_054714.1:g.6593G>A

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