Links from Gene
Items: 1 to 20 of 10217
1.
rs1491370472 has merged into rs60642403 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:113072708
(GRCh38)
12:113510513
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.113072708_113072721del, NC_000012.12:g.113072709_113072721del, NC_000012.12:g.113072710_113072721del, NC_000012.12:g.113072711_113072721del, NC_000012.12:g.113072712_113072721del, NC_000012.12:g.113072713_113072721del, NC_000012.12:g.113072714_113072721del, NC_000012.12:g.113072715_113072721del, NC_000012.12:g.113072716_113072721del, NC_000012.12:g.113072717_113072721del, NC_000012.12:g.113072718_113072721del, NC_000012.12:g.113072719_113072721del, NC_000012.12:g.113072720_113072721del, NC_000012.12:g.113072721del, NC_000012.12:g.113072721dup, NC_000012.12:g.113072720_113072721dup, NC_000012.12:g.113072719_113072721dup, NC_000012.12:g.113072718_113072721dup, NC_000012.12:g.113072717_113072721dup, NC_000012.12:g.113072716_113072721dup, NC_000012.12:g.113072715_113072721dup, NC_000012.12:g.113072714_113072721dup, NC_000012.12:g.113072713_113072721dup, NC_000012.12:g.113072712_113072721dup, NC_000012.12:g.113072711_113072721dup, NC_000012.12:g.113072710_113072721dup, NC_000012.12:g.113072708_113072721dup, NC_000012.12:g.113072706_113072721dup, NC_000012.12:g.113072704_113072721dup, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510513_113510526del, NC_000012.11:g.113510514_113510526del, NC_000012.11:g.113510515_113510526del, NC_000012.11:g.113510516_113510526del, NC_000012.11:g.113510517_113510526del, NC_000012.11:g.113510518_113510526del, NC_000012.11:g.113510519_113510526del, NC_000012.11:g.113510520_113510526del, NC_000012.11:g.113510521_113510526del, NC_000012.11:g.113510522_113510526del, NC_000012.11:g.113510523_113510526del, NC_000012.11:g.113510524_113510526del, NC_000012.11:g.113510525_113510526del, NC_000012.11:g.113510526del, NC_000012.11:g.113510526dup, NC_000012.11:g.113510525_113510526dup, NC_000012.11:g.113510524_113510526dup, NC_000012.11:g.113510523_113510526dup, NC_000012.11:g.113510522_113510526dup, NC_000012.11:g.113510521_113510526dup, NC_000012.11:g.113510520_113510526dup, NC_000012.11:g.113510519_113510526dup, NC_000012.11:g.113510518_113510526dup, NC_000012.11:g.113510517_113510526dup, NC_000012.11:g.113510516_113510526dup, NC_000012.11:g.113510515_113510526dup, NC_000012.11:g.113510513_113510526dup, NC_000012.11:g.113510511_113510526dup, NC_000012.11:g.113510509_113510526dup, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491264251 has merged into rs56194115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:113096446
(GRCh38)
12:113534251
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.113096446_113096462del, NC_000012.12:g.113096451_113096462del, NC_000012.12:g.113096452_113096462del, NC_000012.12:g.113096453_113096462del, NC_000012.12:g.113096454_113096462del, NC_000012.12:g.113096455_113096462del, NC_000012.12:g.113096456_113096462del, NC_000012.12:g.113096457_113096462del, NC_000012.12:g.113096458_113096462del, NC_000012.12:g.113096459_113096462del, NC_000012.12:g.113096460_113096462del, NC_000012.12:g.113096461_113096462del, NC_000012.12:g.113096462del, NC_000012.12:g.113096462dup, NC_000012.12:g.113096461_113096462dup, NC_000012.12:g.113096460_113096462dup, NC_000012.12:g.113096459_113096462dup, NC_000012.12:g.113096458_113096462dup, NC_000012.12:g.113096457_113096462dup, NC_000012.12:g.113096456_113096462dup, NC_000012.12:g.113096455_113096462dup, NC_000012.12:g.113096453_113096462dup, NC_000012.12:g.113096451_113096462dup, NC_000012.12:g.113096450_113096462dup, NC_000012.12:g.113096448_113096462dup, NC_000012.12:g.113096447_113096462dup, NC_000012.12:g.113096446_113096462dup, NC_000012.12:g.113096445_113096462dup, NC_000012.12:g.113096444_113096462dup, NC_000012.12:g.113096443_113096462dup, NC_000012.12:g.113096442_113096462dup, NC_000012.12:g.113096441_113096462dup, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534251_113534267del, NC_000012.11:g.113534256_113534267del, NC_000012.11:g.113534257_113534267del, NC_000012.11:g.113534258_113534267del, NC_000012.11:g.113534259_113534267del, NC_000012.11:g.113534260_113534267del, NC_000012.11:g.113534261_113534267del, NC_000012.11:g.113534262_113534267del, NC_000012.11:g.113534263_113534267del, NC_000012.11:g.113534264_113534267del, NC_000012.11:g.113534265_113534267del, NC_000012.11:g.113534266_113534267del, NC_000012.11:g.113534267del, NC_000012.11:g.113534267dup, NC_000012.11:g.113534266_113534267dup, NC_000012.11:g.113534265_113534267dup, NC_000012.11:g.113534264_113534267dup, NC_000012.11:g.113534263_113534267dup, NC_000012.11:g.113534262_113534267dup, NC_000012.11:g.113534261_113534267dup, NC_000012.11:g.113534260_113534267dup, NC_000012.11:g.113534258_113534267dup, NC_000012.11:g.113534256_113534267dup, NC_000012.11:g.113534255_113534267dup, NC_000012.11:g.113534253_113534267dup, NC_000012.11:g.113534252_113534267dup, NC_000012.11:g.113534251_113534267dup, NC_000012.11:g.113534250_113534267dup, NC_000012.11:g.113534249_113534267dup, NC_000012.11:g.113534248_113534267dup, NC_000012.11:g.113534247_113534267dup, NC_000012.11:g.113534246_113534267dup, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491030273 has merged into rs11372823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 12:113092338
(GRCh38)
12:113530143
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.347/1738
(1000Genomes)
- HGVS:
6.
rs1491014372 has merged into rs35457626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 12:113086274
(GRCh38)
12:113524079
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3516/1761
(1000Genomes)
- HGVS:
7.
rs1490977791 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 12:113080489
(GRCh38)
12:113518294
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113080488:T:
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490827691 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:113085102
(GRCh38)
12:113522907
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113085100:GTG:G
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
11.
rs1490745504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113064488
(GRCh38)
12:113502293
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113064487:C:T
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490485764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:113080005
(GRCh38)
12:113517810
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113080004:A:G
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
13.
rs1490440544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:113081130
(GRCh38)
12:113518935
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113081129:G:T
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490402637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:113056737
(GRCh38)
12:113494542
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113056736:A:C,NC_000012.12:113056736:A:G
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490197267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113075718
(GRCh38)
12:113513523
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113075717:G:A
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490156130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:113080990
(GRCh38)
12:113518795
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113080989:T:A
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489924809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:113065038
(GRCh38)
12:113502843
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113065037:A:G
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1489805460 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CCGCGAGCGGCTCGGGGACG>-
[Show Flanks]
- Chromosome:
- 12:113056994
(GRCh38)
12:113494799
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113056993:CCGCGAGCGGCTCGGGGACG:
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
19.
rs1489764010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:113057664
(GRCh38)
12:113495469
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113057663:G:A,NC_000012.12:113057663:G:C
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1489724153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113087993
(GRCh38)
12:113525798
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113087992:G:A
- Gene:
- DTX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: