Links from Gene
Items: 1 to 20 of 1000
1.
rs1491583978 has merged into rs547207365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:41404880
(GRCh38)
21:42776807
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.41404880_41404891del, NC_000021.9:g.41404881_41404891del, NC_000021.9:g.41404882_41404891del, NC_000021.9:g.41404883_41404891del, NC_000021.9:g.41404884_41404891del, NC_000021.9:g.41404885_41404891del, NC_000021.9:g.41404886_41404891del, NC_000021.9:g.41404888_41404891del, NC_000021.9:g.41404889_41404891del, NC_000021.9:g.41404890_41404891del, NC_000021.9:g.41404891del, NC_000021.9:g.41404891dup, NC_000021.9:g.41404890_41404891dup, NC_000021.9:g.41404889_41404891dup, NC_000021.9:g.41404888_41404891dup, NC_000021.9:g.41404887_41404891dup, NC_000021.9:g.41404885_41404891dup, NC_000021.9:g.41404884_41404891dup, NC_000021.9:g.41404882_41404891dup, NC_000021.9:g.41404881_41404891dup, NC_000021.9:g.41404879_41404891dup, NC_000021.9:g.41404878_41404891dup, NC_000021.9:g.41404877_41404891dup, NC_000021.9:g.41404876_41404891dup, NC_000021.9:g.41404875_41404891dup, NC_000021.9:g.41404874_41404891dup, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404874_41404891A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42776807_42776818del, NC_000021.8:g.42776808_42776818del, NC_000021.8:g.42776809_42776818del, NC_000021.8:g.42776810_42776818del, NC_000021.8:g.42776811_42776818del, NC_000021.8:g.42776812_42776818del, NC_000021.8:g.42776813_42776818del, NC_000021.8:g.42776815_42776818del, NC_000021.8:g.42776816_42776818del, NC_000021.8:g.42776817_42776818del, NC_000021.8:g.42776818del, NC_000021.8:g.42776818dup, NC_000021.8:g.42776817_42776818dup, NC_000021.8:g.42776816_42776818dup, NC_000021.8:g.42776815_42776818dup, NC_000021.8:g.42776814_42776818dup, NC_000021.8:g.42776812_42776818dup, NC_000021.8:g.42776811_42776818dup, NC_000021.8:g.42776809_42776818dup, NC_000021.8:g.42776808_42776818dup, NC_000021.8:g.42776806_42776818dup, NC_000021.8:g.42776805_42776818dup, NC_000021.8:g.42776804_42776818dup, NC_000021.8:g.42776803_42776818dup, NC_000021.8:g.42776802_42776818dup, NC_000021.8:g.42776801_42776818dup, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776801_42776818A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
2.
rs1491437645 has merged into rs373955778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:41393124
(GRCh38)
21:42765051
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.41393124_41393131del, NC_000021.9:g.41393125_41393131del, NC_000021.9:g.41393126_41393131del, NC_000021.9:g.41393127_41393131del, NC_000021.9:g.41393129_41393131del, NC_000021.9:g.41393130_41393131del, NC_000021.9:g.41393131del, NC_000021.9:g.41393131dup, NC_000021.9:g.41393130_41393131dup, NC_000021.9:g.41393129_41393131dup, NC_000021.9:g.41393128_41393131dup, NC_000021.9:g.41393126_41393131dup, NC_000021.9:g.41393125_41393131dup, NC_000021.9:g.41393124_41393131dup, NC_000021.9:g.41393123_41393131dup, NC_000021.9:g.41393122_41393131dup, NC_000021.9:g.41393121_41393131dup, NC_000021.9:g.41393120_41393131dup, NC_000021.9:g.41393119_41393131dup, NC_000021.9:g.41393118_41393131dup, NC_000021.9:g.41393117_41393131dup, NC_000021.9:g.41393115_41393131dup, NC_000021.9:g.41393114_41393131dup, NC_000021.9:g.41393112_41393131dup, NC_000021.9:g.41393111_41393131dup, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393111_41393131A[29]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[26]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765051_42765058del, NC_000021.8:g.42765052_42765058del, NC_000021.8:g.42765053_42765058del, NC_000021.8:g.42765054_42765058del, NC_000021.8:g.42765056_42765058del, NC_000021.8:g.42765057_42765058del, NC_000021.8:g.42765058del, NC_000021.8:g.42765058dup, NC_000021.8:g.42765057_42765058dup, NC_000021.8:g.42765056_42765058dup, NC_000021.8:g.42765055_42765058dup, NC_000021.8:g.42765053_42765058dup, NC_000021.8:g.42765052_42765058dup, NC_000021.8:g.42765051_42765058dup, NC_000021.8:g.42765050_42765058dup, NC_000021.8:g.42765049_42765058dup, NC_000021.8:g.42765048_42765058dup, NC_000021.8:g.42765047_42765058dup, NC_000021.8:g.42765046_42765058dup, NC_000021.8:g.42765045_42765058dup, NC_000021.8:g.42765044_42765058dup, NC_000021.8:g.42765042_42765058dup, NC_000021.8:g.42765041_42765058dup, NC_000021.8:g.42765039_42765058dup, NC_000021.8:g.42765038_42765058dup, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765038_42765058A[29]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[26]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491281878 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 21:41393110
(GRCh38)
21:42765037
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41393109:CA:
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00042/5
(
ALFA)
-=0.00041/10
(TOMMO)
- HGVS:
5.
rs1491232876 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 21:41403252
(GRCh38)
21:42775179
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41403251:GC:
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00002/1
(ExAC)
-=0.00002/1
(GnomAD)
-=0.00004/1
(TOMMO)
- HGVS:
6.
rs1490976399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 21:41373523
(GRCh38)
21:42745450
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41373522:G:A,NC_000021.9:41373522:G:T
- Gene:
- MX2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490930154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41374385
(GRCh38)
21:42746312
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41374384:C:T
- Gene:
- MX2 (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:
8.
rs1490887091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 21:41374631
(GRCh38)
21:42746558
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41374630:G:T
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
9.
rs1490716229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:41380260
(GRCh38)
21:42752187
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41380259:C:G,NC_000021.9:41380259:C:T
- Gene:
- MX2 (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:
10.
rs1490655287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:41389069
(GRCh38)
21:42760996
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41389068:A:C,NC_000021.9:41389068:A:G
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490536744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:41402149
(GRCh38)
21:42774076
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41402148:C:G
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490302450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 21:41407930
(GRCh38)
21:42779857
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41407924:TCTCTCT:TCTCT
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490299572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:41394008
(GRCh38)
21:42765935
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41394007:T:C
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490286625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41405684
(GRCh38)
21:42777611
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41405683:C:T
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000177/3
(TOMMO)
T=0.001027/3
(KOREAN)
- HGVS:
15.
rs1490232184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:41365907
(GRCh38)
21:42737834
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41365906:C:G
- Gene:
- MX2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490102811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41386726
(GRCh38)
21:42758653
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41386725:C:T
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
17.
rs1490069486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:41400551
(GRCh38)
21:42772478
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41400550:T:C
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1489922619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:41406664
(GRCh38)
21:42778591
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41406663:A:G
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489776702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41370359
(GRCh38)
21:42742286
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41370358:C:T
- Gene:
- MX2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000064/17
(TOPMED)
T=0.000071/1
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.001092/2
(Korea1K)
- HGVS:
NC_000021.9:g.41370359C>T, NC_000021.8:g.42742286C>T, XM_005260983.6:c.-358C>T, XM_005260983.5:c.-358C>T, XM_005260983.3:c.-358C>T, XM_005260983.2:c.-358C>T, XM_005260983.1:c.-358C>T, XM_005260984.2:c.-108C>T, XM_005260984.1:c.-108C>T, XM_047440779.1:c.-424C>T, XM_047440781.1:c.-358C>T, XM_047440782.1:c.-108C>T
20.
rs1489682369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 21:41378549
(GRCh38)
21:42750476
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41378548:AA:A
- Gene:
- MX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS: