SNP Links for Gene (Select 81569) - SNP

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Select item 14915844371.

rs1491584437 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 1:17802416 (GRCh38)
1:18128912 (GRCh37)
Canonical SPDI:: NC_000001.11:17802416:GTGCGTGCGTG:GTGCGTGCGTGCGTG
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCGTGCGTGCGTG=0./0 (ALFA)
GTGC=0.000008/1 (GnomAD)
GTGC=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.17802420CGTG[3], NC_000001.10:g.18128915CGTG[3]

Select item 14915672632.

rs1491567263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:17802418 (GRCh38)
1:18128913 (GRCh37)
Canonical SPDI:: NC_000001.11:17802415:TGTG:TG
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17802416TG[1], NC_000001.10:g.18128911TG[1]

Select item 14914159563.

rs1491415956 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:17805372 (GRCh38)
1:18131868 (GRCh37)
Canonical SPDI:: NC_000001.11:17805372:TTT:TTTCTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.17805375_17805376insCTTT, NC_000001.10:g.18131870_18131871insCTTT

Select item 14912850344.

rs1491285034 has merged into rs34383884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17816213 (GRCh38)
1:18142708 (GRCh37)
Canonical SPDI:: NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.232/1162 (1000Genomes)
HGVS:: NC_000001.11:g.17816213_17816216del, NC_000001.11:g.17816214_17816216del, NC_000001.11:g.17816215_17816216del, NC_000001.11:g.17816216del, NC_000001.11:g.17816216dup, NC_000001.11:g.17816215_17816216dup, NC_000001.11:g.17816214_17816216dup, NC_000001.11:g.17816213_17816216dup, NC_000001.11:g.17816212_17816216dup, NC_000001.11:g.17816210_17816216dup, NC_000001.11:g.17816209_17816216dup, NC_000001.11:g.17816208_17816216dup, NC_000001.11:g.17816207_17816216dup, NC_000001.11:g.17816206_17816216dup, NC_000001.11:g.17816205_17816216dup, NC_000001.11:g.17816204_17816216dup, NC_000001.11:g.17816202_17816216dup, NC_000001.11:g.17816216_17816217insTTTTTTTTTTTTTTTTTT, NC_000001.11:g.17816216_17816217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18142708_18142711del, NC_000001.10:g.18142709_18142711del, NC_000001.10:g.18142710_18142711del, NC_000001.10:g.18142711del, NC_000001.10:g.18142711dup, NC_000001.10:g.18142710_18142711dup, NC_000001.10:g.18142709_18142711dup, NC_000001.10:g.18142708_18142711dup, NC_000001.10:g.18142707_18142711dup, NC_000001.10:g.18142705_18142711dup, NC_000001.10:g.18142704_18142711dup, NC_000001.10:g.18142703_18142711dup, NC_000001.10:g.18142702_18142711dup, NC_000001.10:g.18142701_18142711dup, NC_000001.10:g.18142700_18142711dup, NC_000001.10:g.18142699_18142711dup, NC_000001.10:g.18142697_18142711dup, NC_000001.10:g.18142711_18142712insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18142711_18142712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912460985.

rs1491246098 has merged into rs67716211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:17805375 (GRCh38)
1:18131870 (GRCh37)
Canonical SPDI:: NC_000001.11:17805371:TTTTT:TTT,NC_000001.11:17805371:TTTTT:TTTT,NC_000001.11:17805371:TTTTT:TTTTTT,NC_000001.11:17805371:TTTTT:TTTTTTT,NC_000001.11:17805371:TTTTT:TTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.19685/100 (NorthernSweden)
-=0.38517/6192 (TOMMO)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.17805375_17805376del, NC_000001.11:g.17805376del, NC_000001.11:g.17805376dup, NC_000001.11:g.17805375_17805376dup, NC_000001.11:g.17805372_17805376dup, NC_000001.10:g.18131870_18131871del, NC_000001.10:g.18131871del, NC_000001.10:g.18131871dup, NC_000001.10:g.18131870_18131871dup, NC_000001.10:g.18131867_18131871dup

Select item 14910788916.

rs1491078891 has merged into rs141182523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17812435 (GRCh38)
1:18138930 (GRCh37)
Canonical SPDI:: NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17812427:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17812435_17812447del, NC_000001.11:g.17812436_17812447del, NC_000001.11:g.17812437_17812447del, NC_000001.11:g.17812438_17812447del, NC_000001.11:g.17812439_17812447del, NC_000001.11:g.17812440_17812447del, NC_000001.11:g.17812441_17812447del, NC_000001.11:g.17812443_17812447del, NC_000001.11:g.17812445_17812447del, NC_000001.11:g.17812446_17812447del, NC_000001.11:g.17812447del, NC_000001.11:g.17812447dup, NC_000001.11:g.17812428_17812447T[21]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.17812446_17812447dup, NC_000001.11:g.17812445_17812447dup, NC_000001.11:g.17812444_17812447dup, NC_000001.11:g.17812443_17812447dup, NC_000001.11:g.17812442_17812447dup, NC_000001.11:g.17812441_17812447dup, NC_000001.11:g.17812440_17812447dup, NC_000001.11:g.17812436_17812447dup, NC_000001.11:g.17812432_17812447dup, NC_000001.11:g.17812431_17812447dup, NC_000001.11:g.17812430_17812447dup, NC_000001.11:g.17812428_17812447dup, NC_000001.11:g.17812447_17812448insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.17812447_17812448insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.17812447_17812448insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.17812447_17812448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18138930_18138942del, NC_000001.10:g.18138931_18138942del, NC_000001.10:g.18138932_18138942del, NC_000001.10:g.18138933_18138942del, NC_000001.10:g.18138934_18138942del, NC_000001.10:g.18138935_18138942del, NC_000001.10:g.18138936_18138942del, NC_000001.10:g.18138938_18138942del, NC_000001.10:g.18138940_18138942del, NC_000001.10:g.18138941_18138942del, NC_000001.10:g.18138942del, NC_000001.10:g.18138942dup, NC_000001.10:g.18138923_18138942T[21]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.18138941_18138942dup, NC_000001.10:g.18138940_18138942dup, NC_000001.10:g.18138939_18138942dup, NC_000001.10:g.18138938_18138942dup, NC_000001.10:g.18138937_18138942dup, NC_000001.10:g.18138936_18138942dup, NC_000001.10:g.18138935_18138942dup, NC_000001.10:g.18138931_18138942dup, NC_000001.10:g.18138927_18138942dup, NC_000001.10:g.18138926_18138942dup, NC_000001.10:g.18138925_18138942dup, NC_000001.10:g.18138923_18138942dup, NC_000001.10:g.18138942_18138943insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18138942_18138943insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18138942_18138943insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18138942_18138943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910368647.

rs1491036864 has merged into rs200104295 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17811882 (GRCh38)
1:18138377 (GRCh37)
Canonical SPDI:: NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:17811870:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.05167/31 (NorthernSweden)
HGVS:: NC_000001.11:g.17811882_17811885del, NC_000001.11:g.17811883_17811885del, NC_000001.11:g.17811884_17811885del, NC_000001.11:g.17811885del, NC_000001.11:g.17811885dup, NC_000001.11:g.17811884_17811885dup, NC_000001.11:g.17811883_17811885dup, NC_000001.11:g.17811885_17811886insTTTTTTTTTTTTTTTT, NC_000001.10:g.18138377_18138380del, NC_000001.10:g.18138378_18138380del, NC_000001.10:g.18138379_18138380del, NC_000001.10:g.18138380del, NC_000001.10:g.18138380dup, NC_000001.10:g.18138379_18138380dup, NC_000001.10:g.18138378_18138380dup, NC_000001.10:g.18138380_18138381insTTTTTTTTTTTTTTTT

Select item 14910288748.

rs1491028874 has merged into rs71018040 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17787681 (GRCh38)
1:18114176 (GRCh37)
Canonical SPDI:: NC_000001.11:17787670:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:17787670:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:17787670:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17787670:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:17787670:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00025/3 (ALFA)
-=0.21571/920 (1000Genomes)
HGVS:: NC_000001.11:g.17787681_17787682del, NC_000001.11:g.17787682del, NC_000001.11:g.17787682dup, NC_000001.11:g.17787681_17787682dup, NC_000001.11:g.17787672_17787682dup, NC_000001.10:g.18114176_18114177del, NC_000001.10:g.18114177del, NC_000001.10:g.18114177dup, NC_000001.10:g.18114176_18114177dup, NC_000001.10:g.18114167_18114177dup

Select item 14910157519.

rs1491015751 has merged into rs34383884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17816213 (GRCh38)
1:18142708 (GRCh37)
Canonical SPDI:: NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17816200:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.232/1162 (1000Genomes)
HGVS:: NC_000001.11:g.17816213_17816216del, NC_000001.11:g.17816214_17816216del, NC_000001.11:g.17816215_17816216del, NC_000001.11:g.17816216del, NC_000001.11:g.17816216dup, NC_000001.11:g.17816215_17816216dup, NC_000001.11:g.17816214_17816216dup, NC_000001.11:g.17816213_17816216dup, NC_000001.11:g.17816212_17816216dup, NC_000001.11:g.17816210_17816216dup, NC_000001.11:g.17816209_17816216dup, NC_000001.11:g.17816208_17816216dup, NC_000001.11:g.17816207_17816216dup, NC_000001.11:g.17816206_17816216dup, NC_000001.11:g.17816205_17816216dup, NC_000001.11:g.17816204_17816216dup, NC_000001.11:g.17816202_17816216dup, NC_000001.11:g.17816216_17816217insTTTTTTTTTTTTTTTTTT, NC_000001.11:g.17816216_17816217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18142708_18142711del, NC_000001.10:g.18142709_18142711del, NC_000001.10:g.18142710_18142711del, NC_000001.10:g.18142711del, NC_000001.10:g.18142711dup, NC_000001.10:g.18142710_18142711dup, NC_000001.10:g.18142709_18142711dup, NC_000001.10:g.18142708_18142711dup, NC_000001.10:g.18142707_18142711dup, NC_000001.10:g.18142705_18142711dup, NC_000001.10:g.18142704_18142711dup, NC_000001.10:g.18142703_18142711dup, NC_000001.10:g.18142702_18142711dup, NC_000001.10:g.18142701_18142711dup, NC_000001.10:g.18142700_18142711dup, NC_000001.10:g.18142699_18142711dup, NC_000001.10:g.18142697_18142711dup, NC_000001.10:g.18142711_18142712insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18142711_18142712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149101107310.

rs1491011073 has merged into rs34552700 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17817199 (GRCh38)
1:18143694 (GRCh37)
Canonical SPDI:: NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17817189:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.04362/26 (NorthernSweden)
T=0.18351/919 (1000Genomes)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.17817199_17817203del, NC_000001.11:g.17817202_17817203del, NC_000001.11:g.17817203del, NC_000001.11:g.17817203dup, NC_000001.11:g.17817202_17817203dup, NC_000001.11:g.17817201_17817203dup, NC_000001.11:g.17817197_17817203dup, NC_000001.11:g.17817190_17817203T[21]GTTTTTTTTTTTTTTTT[1], NC_000001.11:g.17817195_17817203dup, NC_000001.11:g.17817203_17817204insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.18143694_18143698del, NC_000001.10:g.18143697_18143698del, NC_000001.10:g.18143698del, NC_000001.10:g.18143698dup, NC_000001.10:g.18143697_18143698dup, NC_000001.10:g.18143696_18143698dup, NC_000001.10:g.18143692_18143698dup, NC_000001.10:g.18143685_18143698T[21]GTTTTTTTTTTTTTTTT[1], NC_000001.10:g.18143690_18143698dup, NC_000001.10:g.18143698_18143699insTTTTTTTTTTTTTTTTTT

Select item 149099233211.

rs1490992332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17818415 (GRCh38)
1:18144910 (GRCh37)
Canonical SPDI:: NC_000001.11:17818414:C:T
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.17818415C>T, NC_000001.10:g.18144910C>T

Select item 149097511812.

rs1490975118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17764984 (GRCh38)
1:18091479 (GRCh37)
Canonical SPDI:: NC_000001.11:17764983:T:C
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.17764984T>C, NC_000001.10:g.18091479T>C

Select item 149093431513.

rs1490934315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17802902 (GRCh38)
1:18129397 (GRCh37)
Canonical SPDI:: NC_000001.11:17802901:T:C
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.17802902T>C, NC_000001.10:g.18129397T>C

Select item 149088062914.

rs1490880629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17787928 (GRCh38)
1:18114423 (GRCh37)
Canonical SPDI:: NC_000001.11:17787927:T:C
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17787928T>C, NC_000001.10:g.18114423T>C

Select item 149082228615.

rs1490822286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:17796022 (GRCh38)
1:18122517 (GRCh37)
Canonical SPDI:: NC_000001.11:17796021:A:T
Gene:: ACTL8 (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_000001.11:g.17796022A>T, NC_000001.10:g.18122517A>T

Select item 149080720816.

rs1490807208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17795012 (GRCh38)
1:18121507 (GRCh37)
Canonical SPDI:: NC_000001.11:17795011:A:G
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.17795012A>G, NC_000001.10:g.18121507A>G

Select item 149073483617.

rs1490734836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17766863 (GRCh38)
1:18093358 (GRCh37)
Canonical SPDI:: NC_000001.11:17766862:A:G
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17766863A>G, NC_000001.10:g.18093358A>G

Select item 149063468418.

rs1490634684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:17770285 (GRCh38)
1:18096780 (GRCh37)
Canonical SPDI:: NC_000001.11:17770284:A:T
Gene:: ACTL8 (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_000001.11:g.17770285A>T, NC_000001.10:g.18096780A>T

Select item 149060086819.

rs1490600868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17757781 (GRCh38)
1:18084276 (GRCh37)
Canonical SPDI:: NC_000001.11:17757780:T:C
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.17757781T>C, NC_000001.10:g.18084276T>C

Select item 149050932720.

rs1490509327 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:17763820 (GRCh38)
1:18090315 (GRCh37)
Canonical SPDI:: NC_000001.11:17763816:GTGTG:GTG
Gene:: ACTL8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17763818TG[1], NC_000001.10:g.18090313TG[1]

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