Links from Gene
Items: 1 to 20 of 7100
1.
rs1491530395 has merged into rs55986713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:217912551
(GRCh38)
1:218085893
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217912537:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.217912551_217912556del, NC_000001.11:g.217912552_217912556del, NC_000001.11:g.217912553_217912556del, NC_000001.11:g.217912554_217912556del, NC_000001.11:g.217912555_217912556del, NC_000001.11:g.217912556del, NC_000001.11:g.217912556dup, NC_000001.11:g.217912555_217912556dup, NC_000001.11:g.217912554_217912556dup, NC_000001.11:g.217912553_217912556dup, NC_000001.11:g.217912552_217912556dup, NC_000001.11:g.217912551_217912556dup, NC_000001.11:g.217912550_217912556dup, NC_000001.11:g.217912549_217912556dup, NC_000001.11:g.217912548_217912556dup, NC_000001.11:g.217912547_217912556dup, NC_000001.11:g.217912546_217912556dup, NC_000001.11:g.217912545_217912556dup, NC_000001.11:g.217912544_217912556dup, NC_000001.11:g.217912543_217912556dup, NC_000001.11:g.217912542_217912556dup, NC_000001.11:g.217912541_217912556dup, NC_000001.11:g.217912540_217912556dup, NC_000001.11:g.217912539_217912556dup, NC_000001.11:g.217912538_217912556dup, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912556_217912557insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217912538_217912556A[22]CAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218085893_218085898del, NC_000001.10:g.218085894_218085898del, NC_000001.10:g.218085895_218085898del, NC_000001.10:g.218085896_218085898del, NC_000001.10:g.218085897_218085898del, NC_000001.10:g.218085898del, NC_000001.10:g.218085898dup, NC_000001.10:g.218085897_218085898dup, NC_000001.10:g.218085896_218085898dup, NC_000001.10:g.218085895_218085898dup, NC_000001.10:g.218085894_218085898dup, NC_000001.10:g.218085893_218085898dup, NC_000001.10:g.218085892_218085898dup, NC_000001.10:g.218085891_218085898dup, NC_000001.10:g.218085890_218085898dup, NC_000001.10:g.218085889_218085898dup, NC_000001.10:g.218085888_218085898dup, NC_000001.10:g.218085887_218085898dup, NC_000001.10:g.218085886_218085898dup, NC_000001.10:g.218085885_218085898dup, NC_000001.10:g.218085884_218085898dup, NC_000001.10:g.218085883_218085898dup, NC_000001.10:g.218085882_218085898dup, NC_000001.10:g.218085881_218085898dup, NC_000001.10:g.218085880_218085898dup, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085898_218085899insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218085880_218085898A[22]CAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1491318641 has merged into rs61155191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:217891830
(GRCh38)
1:218065172
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217891817:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.4213/2110
(1000Genomes)
- HGVS:
NC_000001.11:g.217891830_217891844del, NC_000001.11:g.217891831_217891844del, NC_000001.11:g.217891832_217891844del, NC_000001.11:g.217891834_217891844del, NC_000001.11:g.217891835_217891844del, NC_000001.11:g.217891836_217891844del, NC_000001.11:g.217891837_217891844del, NC_000001.11:g.217891838_217891844del, NC_000001.11:g.217891839_217891844del, NC_000001.11:g.217891840_217891844del, NC_000001.11:g.217891841_217891844del, NC_000001.11:g.217891842_217891844del, NC_000001.11:g.217891843_217891844del, NC_000001.11:g.217891844del, NC_000001.11:g.217891844dup, NC_000001.11:g.217891843_217891844dup, NC_000001.11:g.217891842_217891844dup, NC_000001.11:g.217891841_217891844dup, NC_000001.11:g.217891840_217891844dup, NC_000001.11:g.217891839_217891844dup, NC_000001.11:g.217891838_217891844dup, NC_000001.11:g.217891837_217891844dup, NC_000001.11:g.217891836_217891844dup, NC_000001.11:g.217891835_217891844dup, NC_000001.11:g.217891834_217891844dup, NC_000001.11:g.217891833_217891844dup, NC_000001.11:g.217891832_217891844dup, NC_000001.11:g.217891831_217891844dup, NC_000001.11:g.217891830_217891844dup, NC_000001.11:g.217891829_217891844dup, NC_000001.11:g.217891828_217891844dup, NC_000001.11:g.217891827_217891844dup, NC_000001.11:g.217891826_217891844dup, NC_000001.11:g.217891825_217891844dup, NC_000001.11:g.217891824_217891844dup, NC_000001.11:g.217891823_217891844dup, NC_000001.11:g.217891822_217891844dup, NC_000001.11:g.217891821_217891844dup, NC_000001.11:g.217891820_217891844dup, NC_000001.11:g.217891819_217891844dup, NC_000001.11:g.217891818_217891844dup, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891844_217891845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.217891818_217891844A[47]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[42]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[41]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[32]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[29]TAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.217891818_217891844A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065172_218065186del, NC_000001.10:g.218065173_218065186del, NC_000001.10:g.218065174_218065186del, NC_000001.10:g.218065176_218065186del, NC_000001.10:g.218065177_218065186del, NC_000001.10:g.218065178_218065186del, NC_000001.10:g.218065179_218065186del, NC_000001.10:g.218065180_218065186del, NC_000001.10:g.218065181_218065186del, NC_000001.10:g.218065182_218065186del, NC_000001.10:g.218065183_218065186del, NC_000001.10:g.218065184_218065186del, NC_000001.10:g.218065185_218065186del, NC_000001.10:g.218065186del, NC_000001.10:g.218065186dup, NC_000001.10:g.218065185_218065186dup, NC_000001.10:g.218065184_218065186dup, NC_000001.10:g.218065183_218065186dup, NC_000001.10:g.218065182_218065186dup, NC_000001.10:g.218065181_218065186dup, NC_000001.10:g.218065180_218065186dup, NC_000001.10:g.218065179_218065186dup, NC_000001.10:g.218065178_218065186dup, NC_000001.10:g.218065177_218065186dup, NC_000001.10:g.218065176_218065186dup, NC_000001.10:g.218065175_218065186dup, NC_000001.10:g.218065174_218065186dup, NC_000001.10:g.218065173_218065186dup, NC_000001.10:g.218065172_218065186dup, NC_000001.10:g.218065171_218065186dup, NC_000001.10:g.218065170_218065186dup, NC_000001.10:g.218065169_218065186dup, NC_000001.10:g.218065168_218065186dup, NC_000001.10:g.218065167_218065186dup, NC_000001.10:g.218065166_218065186dup, NC_000001.10:g.218065165_218065186dup, NC_000001.10:g.218065164_218065186dup, NC_000001.10:g.218065163_218065186dup, NC_000001.10:g.218065162_218065186dup, NC_000001.10:g.218065161_218065186dup, NC_000001.10:g.218065160_218065186dup, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065186_218065187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.218065160_218065186A[47]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[42]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[41]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[32]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[29]TAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.218065160_218065186A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491195832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATTT,GTTT
[Show Flanks]
- Chromosome:
- 1:217895673
(GRCh38)
1:218069016
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217895673:TTT:TTTATTT,NC_000001.11:217895673:TTT:TTTGTTT
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTGTTT=0./0
(
ALFA)
TTTG=0.000004/1
(TOPMED)
TTTA=0.000026/1
(GnomAD)
- HGVS:
6.
rs1491191380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 1:217897705
(GRCh38)
1:218071048
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217897705:T:TGT
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0.00017/2
(
ALFA)
TG=0.00009/2
(GnomAD)
- HGVS:
8.
rs1491120124 has merged into rs377565234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:217897714
(GRCh38)
1:218071056
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217897704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.217897714_217897721del, NC_000001.11:g.217897716_217897721del, NC_000001.11:g.217897717_217897721del, NC_000001.11:g.217897719_217897721del, NC_000001.11:g.217897720_217897721del, NC_000001.11:g.217897721del, NC_000001.11:g.217897721dup, NC_000001.11:g.217897720_217897721dup, NC_000001.11:g.217897719_217897721dup, NC_000001.11:g.217897718_217897721dup, NC_000001.11:g.217897717_217897721dup, NC_000001.11:g.217897716_217897721dup, NC_000001.11:g.217897713_217897721dup, NC_000001.10:g.218071056_218071063del, NC_000001.10:g.218071058_218071063del, NC_000001.10:g.218071059_218071063del, NC_000001.10:g.218071061_218071063del, NC_000001.10:g.218071062_218071063del, NC_000001.10:g.218071063del, NC_000001.10:g.218071063dup, NC_000001.10:g.218071062_218071063dup, NC_000001.10:g.218071061_218071063dup, NC_000001.10:g.218071060_218071063dup, NC_000001.10:g.218071059_218071063dup, NC_000001.10:g.218071058_218071063dup, NC_000001.10:g.218071055_218071063dup
9.
rs1491082214 has merged into rs10627831 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:217902857
(GRCh38)
1:218076199
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217902844:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.217902857_217902866del, NC_000001.11:g.217902858_217902866del, NC_000001.11:g.217902860_217902866del, NC_000001.11:g.217902861_217902866del, NC_000001.11:g.217902862_217902866del, NC_000001.11:g.217902863_217902866del, NC_000001.11:g.217902864_217902866del, NC_000001.11:g.217902865_217902866del, NC_000001.11:g.217902866del, NC_000001.11:g.217902866dup, NC_000001.11:g.217902865_217902866dup, NC_000001.11:g.217902864_217902866dup, NC_000001.11:g.217902863_217902866dup, NC_000001.11:g.217902862_217902866dup, NC_000001.11:g.217902861_217902866dup, NC_000001.11:g.217902860_217902866dup, NC_000001.11:g.217902859_217902866dup, NC_000001.11:g.217902857_217902866dup, NC_000001.11:g.217902856_217902866dup, NC_000001.11:g.217902855_217902866dup, NC_000001.10:g.218076199_218076208del, NC_000001.10:g.218076200_218076208del, NC_000001.10:g.218076202_218076208del, NC_000001.10:g.218076203_218076208del, NC_000001.10:g.218076204_218076208del, NC_000001.10:g.218076205_218076208del, NC_000001.10:g.218076206_218076208del, NC_000001.10:g.218076207_218076208del, NC_000001.10:g.218076208del, NC_000001.10:g.218076208dup, NC_000001.10:g.218076207_218076208dup, NC_000001.10:g.218076206_218076208dup, NC_000001.10:g.218076205_218076208dup, NC_000001.10:g.218076204_218076208dup, NC_000001.10:g.218076203_218076208dup, NC_000001.10:g.218076202_218076208dup, NC_000001.10:g.218076201_218076208dup, NC_000001.10:g.218076199_218076208dup, NC_000001.10:g.218076198_218076208dup, NC_000001.10:g.218076197_218076208dup
12.
rs1490907884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:217896916
(GRCh38)
1:218070258
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217896915:T:C
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490885529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:217892870
(GRCh38)
1:218066212
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217892869:C:A,NC_000001.11:217892869:C:T
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
C=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1490864614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:217920528
(GRCh38)
1:218093870
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217920527:T:C
- Gene:
- LINC00210 (Varview), LOC105372922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
15.
rs1490554380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:217912394
(GRCh38)
1:218085736
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217912393:C:T
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(Korea1K)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1490513104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:217919207
(GRCh38)
1:218092549
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217919206:T:A
- Gene:
- LINC00210 (Varview), LOC105372922 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
17.
rs1490375221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:217920231
(GRCh38)
1:218093573
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217920230:G:T
- Gene:
- LINC00210 (Varview), LOC105372922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490281119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:217891758
(GRCh38)
1:218065100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217891757:A:G
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000169/2
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
19.
rs1490169472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:217898355
(GRCh38)
1:218071697
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217898354:T:C
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490090862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:217912723
(GRCh38)
1:218086065
(GRCh37)
- Canonical SPDI:
- NC_000001.11:217912722:G:T
- Gene:
- LINC00210 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: