SNP Links for Nucleotide (Select 187829037) - SNP

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Select item 14914911971.

rs1491491197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:33708650 (GRCh38)
11:33730197 (GRCh37)
Canonical SPDI:: NC_000011.10:33708650:G:GG
Gene:: CD59 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.33708651dup, NC_000011.9:g.33730197dup, NG_008057.1:g.32828dup, NM_000611.6:c.*1475dup, NM_000611.5:c.*1475dup, NM_203329.3:c.*1475dup, NM_203329.2:c.*1475dup, NM_203331.3:c.*1475dup, NM_203331.2:c.*1475dup, NM_203330.2:c.*1475dup, NM_001127225.2:c.*1475dup, NM_001127225.1:c.*1475dup, NM_001127226.2:c.*1475dup, NM_001127226.1:c.*1475dup, NM_001127227.2:c.*1475dup, NM_001127227.1:c.*1475dup, NM_001127223.1:c.*1475dup

Select item 14913546652.

rs1491354665 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:33708600 (GRCh38)
11:33730146 (GRCh37)
Canonical SPDI:: NC_000011.10:33708599:CA:
Gene:: CD59 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000011.10:g.33708600_33708601del, NC_000011.9:g.33730146_33730147del, NG_008057.1:g.32878_32879del, NM_000611.6:c.*1525_*1526del, NM_000611.5:c.*1525_*1526del, NM_203329.3:c.*1525_*1526del, NM_203329.2:c.*1525_*1526del, NM_203331.3:c.*1525_*1526del, NM_203331.2:c.*1525_*1526del, NM_203330.2:c.*1525_*1526del, NM_001127225.2:c.*1525_*1526del, NM_001127225.1:c.*1525_*1526del, NM_001127226.2:c.*1525_*1526del, NM_001127226.1:c.*1525_*1526del, NM_001127227.2:c.*1525_*1526del, NM_001127227.1:c.*1525_*1526del, NM_001127223.1:c.*1525_*1526del

Select item 14912975403.

rs1491297540 has merged into rs56892277 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:33706565 (GRCh38)
11:33728111 (GRCh37)
Canonical SPDI:: NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33706551:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.33706565_33706572del, NC_000011.10:g.33706566_33706572del, NC_000011.10:g.33706567_33706572del, NC_000011.10:g.33706568_33706572del, NC_000011.10:g.33706569_33706572del, NC_000011.10:g.33706570_33706572del, NC_000011.10:g.33706571_33706572del, NC_000011.10:g.33706572del, NC_000011.10:g.33706572dup, NC_000011.10:g.33706571_33706572dup, NC_000011.10:g.33706570_33706572dup, NC_000011.10:g.33706569_33706572dup, NC_000011.9:g.33728111_33728118del, NC_000011.9:g.33728112_33728118del, NC_000011.9:g.33728113_33728118del, NC_000011.9:g.33728114_33728118del, NC_000011.9:g.33728115_33728118del, NC_000011.9:g.33728116_33728118del, NC_000011.9:g.33728117_33728118del, NC_000011.9:g.33728118del, NC_000011.9:g.33728118dup, NC_000011.9:g.33728117_33728118dup, NC_000011.9:g.33728116_33728118dup, NC_000011.9:g.33728115_33728118dup, NG_008057.1:g.34920_34927del, NG_008057.1:g.34921_34927del, NG_008057.1:g.34922_34927del, NG_008057.1:g.34923_34927del, NG_008057.1:g.34924_34927del, NG_008057.1:g.34925_34927del, NG_008057.1:g.34926_34927del, NG_008057.1:g.34927del, NG_008057.1:g.34927dup, NG_008057.1:g.34926_34927dup, NG_008057.1:g.34925_34927dup, NG_008057.1:g.34924_34927dup, NM_000611.6:c.*3567_*3574del, NM_000611.6:c.*3568_*3574del, NM_000611.6:c.*3569_*3574del, NM_000611.6:c.*3570_*3574del, NM_000611.6:c.*3571_*3574del, NM_000611.6:c.*3572_*3574del, NM_000611.6:c.*3573_*3574del, NM_000611.6:c.*3574del, NM_000611.6:c.*3574dup, NM_000611.6:c.*3573_*3574dup, NM_000611.6:c.*3572_*3574dup, NM_000611.6:c.*3571_*3574dup, NM_000611.5:c.*3567_*3574del, NM_000611.5:c.*3568_*3574del, NM_000611.5:c.*3569_*3574del, NM_000611.5:c.*3570_*3574del, NM_000611.5:c.*3571_*3574del, NM_000611.5:c.*3572_*3574del, NM_000611.5:c.*3573_*3574del, NM_000611.5:c.*3574del, NM_000611.5:c.*3574dup, NM_000611.5:c.*3573_*3574dup, NM_000611.5:c.*3572_*3574dup, NM_000611.5:c.*3571_*3574dup, NM_203329.3:c.*3567_*3574del, NM_203329.3:c.*3568_*3574del, NM_203329.3:c.*3569_*3574del, NM_203329.3:c.*3570_*3574del, NM_203329.3:c.*3571_*3574del, NM_203329.3:c.*3572_*3574del, NM_203329.3:c.*3573_*3574del, NM_203329.3:c.*3574del, NM_203329.3:c.*3574dup, NM_203329.3:c.*3573_*3574dup, NM_203329.3:c.*3572_*3574dup, NM_203329.3:c.*3571_*3574dup, NM_203329.2:c.*3567_*3574del, NM_203329.2:c.*3568_*3574del, NM_203329.2:c.*3569_*3574del, NM_203329.2:c.*3570_*3574del, NM_203329.2:c.*3571_*3574del, NM_203329.2:c.*3572_*3574del, NM_203329.2:c.*3573_*3574del, NM_203329.2:c.*3574del, NM_203329.2:c.*3574dup, NM_203329.2:c.*3573_*3574dup, NM_203329.2:c.*3572_*3574dup, NM_203329.2:c.*3571_*3574dup, NM_203331.3:c.*3567_*3574del, NM_203331.3:c.*3568_*3574del, NM_203331.3:c.*3569_*3574del, NM_203331.3:c.*3570_*3574del, NM_203331.3:c.*3571_*3574del, NM_203331.3:c.*3572_*3574del, NM_203331.3:c.*3573_*3574del, NM_203331.3:c.*3574del, NM_203331.3:c.*3574dup, NM_203331.3:c.*3573_*3574dup, NM_203331.3:c.*3572_*3574dup, NM_203331.3:c.*3571_*3574dup, NM_203331.2:c.*3567_*3574del, NM_203331.2:c.*3568_*3574del, NM_203331.2:c.*3569_*3574del, NM_203331.2:c.*3570_*3574del, NM_203331.2:c.*3571_*3574del, NM_203331.2:c.*3572_*3574del, NM_203331.2:c.*3573_*3574del, NM_203331.2:c.*3574del, NM_203331.2:c.*3574dup, NM_203331.2:c.*3573_*3574dup, NM_203331.2:c.*3572_*3574dup, NM_203331.2:c.*3571_*3574dup, NM_203330.2:c.*3567_*3574del, NM_203330.2:c.*3568_*3574del, NM_203330.2:c.*3569_*3574del, NM_203330.2:c.*3570_*3574del, NM_203330.2:c.*3571_*3574del, NM_203330.2:c.*3572_*3574del, NM_203330.2:c.*3573_*3574del, NM_203330.2:c.*3574del, NM_203330.2:c.*3574dup, NM_203330.2:c.*3573_*3574dup, NM_203330.2:c.*3572_*3574dup, NM_203330.2:c.*3571_*3574dup, NM_001127225.2:c.*3567_*3574del, NM_001127225.2:c.*3568_*3574del, NM_001127225.2:c.*3569_*3574del, NM_001127225.2:c.*3570_*3574del, NM_001127225.2:c.*3571_*3574del, NM_001127225.2:c.*3572_*3574del, NM_001127225.2:c.*3573_*3574del, NM_001127225.2:c.*3574del, NM_001127225.2:c.*3574dup, NM_001127225.2:c.*3573_*3574dup, NM_001127225.2:c.*3572_*3574dup, NM_001127225.2:c.*3571_*3574dup, NM_001127225.1:c.*3567_*3574del, NM_001127225.1:c.*3568_*3574del, NM_001127225.1:c.*3569_*3574del, NM_001127225.1:c.*3570_*3574del, NM_001127225.1:c.*3571_*3574del, NM_001127225.1:c.*3572_*3574del, NM_001127225.1:c.*3573_*3574del, NM_001127225.1:c.*3574del, NM_001127225.1:c.*3574dup, NM_001127225.1:c.*3573_*3574dup, NM_001127225.1:c.*3572_*3574dup, NM_001127225.1:c.*3571_*3574dup, NM_001127226.2:c.*3567_*3574del, NM_001127226.2:c.*3568_*3574del, NM_001127226.2:c.*3569_*3574del, NM_001127226.2:c.*3570_*3574del, NM_001127226.2:c.*3571_*3574del, NM_001127226.2:c.*3572_*3574del, NM_001127226.2:c.*3573_*3574del, NM_001127226.2:c.*3574del, NM_001127226.2:c.*3574dup, NM_001127226.2:c.*3573_*3574dup, NM_001127226.2:c.*3572_*3574dup, NM_001127226.2:c.*3571_*3574dup, NM_001127226.1:c.*3567_*3574del, NM_001127226.1:c.*3568_*3574del, NM_001127226.1:c.*3569_*3574del, NM_001127226.1:c.*3570_*3574del, NM_001127226.1:c.*3571_*3574del, NM_001127226.1:c.*3572_*3574del, NM_001127226.1:c.*3573_*3574del, NM_001127226.1:c.*3574del, NM_001127226.1:c.*3574dup, NM_001127226.1:c.*3573_*3574dup, NM_001127226.1:c.*3572_*3574dup, NM_001127226.1:c.*3571_*3574dup, NM_001127227.2:c.*3567_*3574del, NM_001127227.2:c.*3568_*3574del, NM_001127227.2:c.*3569_*3574del, NM_001127227.2:c.*3570_*3574del, NM_001127227.2:c.*3571_*3574del, NM_001127227.2:c.*3572_*3574del, NM_001127227.2:c.*3573_*3574del, NM_001127227.2:c.*3574del, NM_001127227.2:c.*3574dup, NM_001127227.2:c.*3573_*3574dup, NM_001127227.2:c.*3572_*3574dup, NM_001127227.2:c.*3571_*3574dup, NM_001127227.1:c.*3567_*3574del, NM_001127227.1:c.*3568_*3574del, NM_001127227.1:c.*3569_*3574del, NM_001127227.1:c.*3570_*3574del, NM_001127227.1:c.*3571_*3574del, NM_001127227.1:c.*3572_*3574del, NM_001127227.1:c.*3573_*3574del, NM_001127227.1:c.*3574del, NM_001127227.1:c.*3574dup, NM_001127227.1:c.*3573_*3574dup, NM_001127227.1:c.*3572_*3574dup, NM_001127227.1:c.*3571_*3574dup, NM_001127223.1:c.*3567_*3574del, NM_001127223.1:c.*3568_*3574del, NM_001127223.1:c.*3569_*3574del, NM_001127223.1:c.*3570_*3574del, NM_001127223.1:c.*3571_*3574del, NM_001127223.1:c.*3572_*3574del, NM_001127223.1:c.*3573_*3574del, NM_001127223.1:c.*3574del, NM_001127223.1:c.*3574dup, NM_001127223.1:c.*3573_*3574dup, NM_001127223.1:c.*3572_*3574dup, NM_001127223.1:c.*3571_*3574dup

Select item 14912174894.

rs1491217489 has merged into rs560607574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 11:33708612 (GRCh38)
11:33730158 (GRCh37)
Canonical SPDI:: NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:33708600:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CD59 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.135583/679 (1000Genomes)
HGVS:: NC_000011.10:g.33708612_33708617del, NC_000011.10:g.33708613_33708617del, NC_000011.10:g.33708614_33708617del, NC_000011.10:g.33708615_33708617del, NC_000011.10:g.33708616_33708617del, NC_000011.10:g.33708617del, NC_000011.10:g.33708617dup, NC_000011.10:g.33708616_33708617dup, NC_000011.10:g.33708615_33708617dup, NC_000011.9:g.33730158_33730163del, NC_000011.9:g.33730159_33730163del, NC_000011.9:g.33730160_33730163del, NC_000011.9:g.33730161_33730163del, NC_000011.9:g.33730162_33730163del, NC_000011.9:g.33730163del, NC_000011.9:g.33730163dup, NC_000011.9:g.33730162_33730163dup, NC_000011.9:g.33730161_33730163dup, NG_008057.1:g.32873_32878del, NG_008057.1:g.32874_32878del, NG_008057.1:g.32875_32878del, NG_008057.1:g.32876_32878del, NG_008057.1:g.32877_32878del, NG_008057.1:g.32878del, NG_008057.1:g.32878dup, NG_008057.1:g.32877_32878dup, NG_008057.1:g.32876_32878dup, NM_000611.6:c.*1520_*1525del, NM_000611.6:c.*1521_*1525del, NM_000611.6:c.*1522_*1525del, NM_000611.6:c.*1523_*1525del, NM_000611.6:c.*1524_*1525del, NM_000611.6:c.*1525del, NM_000611.6:c.*1525dup, NM_000611.6:c.*1524_*1525dup, NM_000611.6:c.*1523_*1525dup, NM_000611.5:c.*1520_*1525del, NM_000611.5:c.*1521_*1525del, NM_000611.5:c.*1522_*1525del, NM_000611.5:c.*1523_*1525del, NM_000611.5:c.*1524_*1525del, NM_000611.5:c.*1525del, NM_000611.5:c.*1525dup, NM_000611.5:c.*1524_*1525dup, NM_000611.5:c.*1523_*1525dup, NM_203329.3:c.*1520_*1525del, NM_203329.3:c.*1521_*1525del, NM_203329.3:c.*1522_*1525del, NM_203329.3:c.*1523_*1525del, NM_203329.3:c.*1524_*1525del, NM_203329.3:c.*1525del, NM_203329.3:c.*1525dup, NM_203329.3:c.*1524_*1525dup, NM_203329.3:c.*1523_*1525dup, NM_203329.2:c.*1520_*1525del, NM_203329.2:c.*1521_*1525del, NM_203329.2:c.*1522_*1525del, NM_203329.2:c.*1523_*1525del, NM_203329.2:c.*1524_*1525del, NM_203329.2:c.*1525del, NM_203329.2:c.*1525dup, NM_203329.2:c.*1524_*1525dup, NM_203329.2:c.*1523_*1525dup, NM_203331.3:c.*1520_*1525del, NM_203331.3:c.*1521_*1525del, NM_203331.3:c.*1522_*1525del, NM_203331.3:c.*1523_*1525del, NM_203331.3:c.*1524_*1525del, NM_203331.3:c.*1525del, NM_203331.3:c.*1525dup, NM_203331.3:c.*1524_*1525dup, NM_203331.3:c.*1523_*1525dup, NM_203331.2:c.*1520_*1525del, NM_203331.2:c.*1521_*1525del, NM_203331.2:c.*1522_*1525del, NM_203331.2:c.*1523_*1525del, NM_203331.2:c.*1524_*1525del, NM_203331.2:c.*1525del, NM_203331.2:c.*1525dup, NM_203331.2:c.*1524_*1525dup, NM_203331.2:c.*1523_*1525dup, NM_203330.2:c.*1520_*1525del, NM_203330.2:c.*1521_*1525del, NM_203330.2:c.*1522_*1525del, NM_203330.2:c.*1523_*1525del, NM_203330.2:c.*1524_*1525del, NM_203330.2:c.*1525del, NM_203330.2:c.*1525dup, NM_203330.2:c.*1524_*1525dup, NM_203330.2:c.*1523_*1525dup, NM_001127225.2:c.*1520_*1525del, NM_001127225.2:c.*1521_*1525del, NM_001127225.2:c.*1522_*1525del, NM_001127225.2:c.*1523_*1525del, NM_001127225.2:c.*1524_*1525del, NM_001127225.2:c.*1525del, NM_001127225.2:c.*1525dup, NM_001127225.2:c.*1524_*1525dup, NM_001127225.2:c.*1523_*1525dup, NM_001127225.1:c.*1520_*1525del, NM_001127225.1:c.*1521_*1525del, NM_001127225.1:c.*1522_*1525del, NM_001127225.1:c.*1523_*1525del, NM_001127225.1:c.*1524_*1525del, NM_001127225.1:c.*1525del, NM_001127225.1:c.*1525dup, NM_001127225.1:c.*1524_*1525dup, NM_001127225.1:c.*1523_*1525dup, NM_001127226.2:c.*1520_*1525del, NM_001127226.2:c.*1521_*1525del, NM_001127226.2:c.*1522_*1525del, NM_001127226.2:c.*1523_*1525del, NM_001127226.2:c.*1524_*1525del, NM_001127226.2:c.*1525del, NM_001127226.2:c.*1525dup, NM_001127226.2:c.*1524_*1525dup, NM_001127226.2:c.*1523_*1525dup, NM_001127226.1:c.*1520_*1525del, NM_001127226.1:c.*1521_*1525del, NM_001127226.1:c.*1522_*1525del, NM_001127226.1:c.*1523_*1525del, NM_001127226.1:c.*1524_*1525del, NM_001127226.1:c.*1525del, NM_001127226.1:c.*1525dup, NM_001127226.1:c.*1524_*1525dup, NM_001127226.1:c.*1523_*1525dup, NM_001127227.2:c.*1520_*1525del, NM_001127227.2:c.*1521_*1525del, NM_001127227.2:c.*1522_*1525del, NM_001127227.2:c.*1523_*1525del, NM_001127227.2:c.*1524_*1525del, NM_001127227.2:c.*1525del, NM_001127227.2:c.*1525dup, NM_001127227.2:c.*1524_*1525dup, NM_001127227.2:c.*1523_*1525dup, NM_001127227.1:c.*1520_*1525del, NM_001127227.1:c.*1521_*1525del, NM_001127227.1:c.*1522_*1525del, NM_001127227.1:c.*1523_*1525del, NM_001127227.1:c.*1524_*1525del, NM_001127227.1:c.*1525del, NM_001127227.1:c.*1525dup, NM_001127227.1:c.*1524_*1525dup, NM_001127227.1:c.*1523_*1525dup, NM_001127223.1:c.*1520_*1525del, NM_001127223.1:c.*1521_*1525del, NM_001127223.1:c.*1522_*1525del, NM_001127223.1:c.*1523_*1525del, NM_001127223.1:c.*1524_*1525del, NM_001127223.1:c.*1525del, NM_001127223.1:c.*1525dup, NM_001127223.1:c.*1524_*1525dup, NM_001127223.1:c.*1523_*1525dup

Select item 14912039505.

rs1491203950 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:33706551 (GRCh38)
11:33728097 (GRCh37)
Canonical SPDI:: NC_000011.10:33706550:TA:
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.33706551_33706552del, NC_000011.9:g.33728097_33728098del, NG_008057.1:g.34927_34928del, NM_000611.6:c.*3574_*3575del, NM_000611.5:c.*3574_*3575del, NM_203329.3:c.*3574_*3575del, NM_203329.2:c.*3574_*3575del, NM_203331.3:c.*3574_*3575del, NM_203331.2:c.*3574_*3575del, NM_203330.2:c.*3574_*3575del, NM_001127225.2:c.*3574_*3575del, NM_001127225.1:c.*3574_*3575del, NM_001127226.2:c.*3574_*3575del, NM_001127226.1:c.*3574_*3575del, NM_001127227.2:c.*3574_*3575del, NM_001127227.1:c.*3574_*3575del, NM_001127223.1:c.*3574_*3575del

Select item 14908027536.

rs1490802753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33706004 (GRCh38)
11:33727550 (GRCh37)
Canonical SPDI:: NC_000011.10:33706003:G:A
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33706004G>A, NC_000011.9:g.33727550G>A, NG_008057.1:g.35475C>T, NM_000611.6:c.*4122C>T, NM_000611.5:c.*4122C>T, NM_203329.3:c.*4122C>T, NM_203329.2:c.*4122C>T, NM_203331.3:c.*4122C>T, NM_203331.2:c.*4122C>T, NM_203330.2:c.*4122C>T, NM_001127225.2:c.*4122C>T, NM_001127225.1:c.*4122C>T, NM_001127226.2:c.*4122C>T, NM_001127226.1:c.*4122C>T, NM_001127227.2:c.*4122C>T, NM_001127227.1:c.*4122C>T, NM_001127223.1:c.*4122C>T, XM_017017053.2:c.-3863C>T

Select item 14906381217.

rs1490638121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33706531 (GRCh38)
11:33728077 (GRCh37)
Canonical SPDI:: NC_000011.10:33706530:G:A
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000045/6 (GnomAD)
HGVS:: NC_000011.10:g.33706531G>A, NC_000011.9:g.33728077G>A, NG_008057.1:g.34948C>T, NM_000611.6:c.*3595C>T, NM_000611.5:c.*3595C>T, NM_203329.3:c.*3595C>T, NM_203329.2:c.*3595C>T, NM_203331.3:c.*3595C>T, NM_203331.2:c.*3595C>T, NM_203330.2:c.*3595C>T, NM_001127225.2:c.*3595C>T, NM_001127225.1:c.*3595C>T, NM_001127226.2:c.*3595C>T, NM_001127226.1:c.*3595C>T, NM_001127227.2:c.*3595C>T, NM_001127227.1:c.*3595C>T, NM_001127223.1:c.*3595C>T, XM_017017053.2:c.-4390C>T

Select item 14905464348.

rs1490546434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33707491 (GRCh38)
11:33729037 (GRCh37)
Canonical SPDI:: NC_000011.10:33707490:C:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33707491C>T, NC_000011.9:g.33729037C>T, NG_008057.1:g.33988G>A, NM_000611.6:c.*2635G>A, NM_000611.5:c.*2635G>A, NM_203329.3:c.*2635G>A, NM_203329.2:c.*2635G>A, NM_203331.3:c.*2635G>A, NM_203331.2:c.*2635G>A, NM_203330.2:c.*2635G>A, NM_001127225.2:c.*2635G>A, NM_001127225.1:c.*2635G>A, NM_001127226.2:c.*2635G>A, NM_001127226.1:c.*2635G>A, NM_001127227.2:c.*2635G>A, NM_001127227.1:c.*2635G>A, NM_001127223.1:c.*2635G>A

Select item 14896440289.

rs1489644028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33708372 (GRCh38)
11:33729918 (GRCh37)
Canonical SPDI:: NC_000011.10:33708371:A:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.33708372A>G, NC_000011.9:g.33729918A>G, NG_008057.1:g.33107T>C, NM_000611.6:c.*1754T>C, NM_000611.5:c.*1754T>C, NM_203329.3:c.*1754T>C, NM_203329.2:c.*1754T>C, NM_203331.3:c.*1754T>C, NM_203331.2:c.*1754T>C, NM_203330.2:c.*1754T>C, NM_001127225.2:c.*1754T>C, NM_001127225.1:c.*1754T>C, NM_001127226.2:c.*1754T>C, NM_001127226.1:c.*1754T>C, NM_001127227.2:c.*1754T>C, NM_001127227.1:c.*1754T>C, NM_001127223.1:c.*1754T>C

Select item 148958800210.

rs1489588002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33707012 (GRCh38)
11:33728558 (GRCh37)
Canonical SPDI:: NC_000011.10:33707011:C:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33707012C>T, NC_000011.9:g.33728558C>T, NG_008057.1:g.34467G>A, NM_000611.6:c.*3114G>A, NM_000611.5:c.*3114G>A, NM_203329.3:c.*3114G>A, NM_203329.2:c.*3114G>A, NM_203331.3:c.*3114G>A, NM_203331.2:c.*3114G>A, NM_203330.2:c.*3114G>A, NM_001127225.2:c.*3114G>A, NM_001127225.1:c.*3114G>A, NM_001127226.2:c.*3114G>A, NM_001127226.1:c.*3114G>A, NM_001127227.2:c.*3114G>A, NM_001127227.1:c.*3114G>A, NM_001127223.1:c.*3114G>A

Select item 148902707011.

rs1489027070 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCT [Show Flanks]
Chromosome:: 11:33703584 (GRCh38)
11:33725131 (GRCh37)
Canonical SPDI:: NC_000011.10:33703584:TAGCT:TAGCTAGCT
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGCTAGCT=0./0 (ALFA)
TAGC=0.000004/1 (TOPMED)
TAGC=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.33703586_33703589dup, NC_000011.9:g.33725132_33725135dup, NG_008057.1:g.37891_37894dup, NM_000611.6:c.*6538_*6541dup, NM_000611.5:c.*6538_*6541dup, NM_203329.3:c.*6538_*6541dup, NM_203329.2:c.*6538_*6541dup, NM_203331.3:c.*6538_*6541dup, NM_203331.2:c.*6538_*6541dup, NM_203330.2:c.*6538_*6541dup, NM_001127225.2:c.*6538_*6541dup, NM_001127225.1:c.*6538_*6541dup, NM_001127226.2:c.*6538_*6541dup, NM_001127226.1:c.*6538_*6541dup, NM_001127227.2:c.*6538_*6541dup, NM_001127227.1:c.*6538_*6541dup, NM_001127223.1:c.*6538_*6541dup, XM_017017053.2:c.-1447_-1444dup

Select item 148901715112.

rs1489017151 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:33705267 (GRCh38)
11:33726813 (GRCh37)
Canonical SPDI:: NC_000011.10:33705265:TCT:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.33705267_33705268del, NC_000011.9:g.33726813_33726814del, NG_008057.1:g.36212_36213del, NM_000611.6:c.*4859_*4860del, NM_000611.5:c.*4859_*4860del, NM_203329.3:c.*4859_*4860del, NM_203329.2:c.*4859_*4860del, NM_203331.3:c.*4859_*4860del, NM_203331.2:c.*4859_*4860del, NM_203330.2:c.*4859_*4860del, NM_001127225.2:c.*4859_*4860del, NM_001127225.1:c.*4859_*4860del, NM_001127226.2:c.*4859_*4860del, NM_001127226.1:c.*4859_*4860del, NM_001127227.2:c.*4859_*4860del, NM_001127227.1:c.*4859_*4860del, NM_001127223.1:c.*4859_*4860del, XM_017017053.2:c.-3126_-3125del

Select item 148893208613.

rs1488932086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:33709640 (GRCh38)
11:33731186 (GRCh37)
Canonical SPDI:: NC_000011.10:33709639:T:A,NC_000011.10:33709639:T:G
Gene:: CD59 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33709640T>A, NC_000011.10:g.33709640T>G, NC_000011.9:g.33731186T>A, NC_000011.9:g.33731186T>G, NG_008057.1:g.31839A>T, NG_008057.1:g.31839A>C, NM_000611.6:c.*486A>T, NM_000611.6:c.*486A>C, NM_000611.5:c.*486A>T, NM_000611.5:c.*486A>C, NM_203329.3:c.*486A>T, NM_203329.3:c.*486A>C, NM_203329.2:c.*486A>T, NM_203329.2:c.*486A>C, NM_203331.3:c.*486A>T, NM_203331.3:c.*486A>C, NM_203331.2:c.*486A>T, NM_203331.2:c.*486A>C, NM_203330.2:c.*486A>T, NM_203330.2:c.*486A>C, NM_001127225.2:c.*486A>T, NM_001127225.2:c.*486A>C, NM_001127225.1:c.*486A>T, NM_001127225.1:c.*486A>C, NM_001127226.2:c.*486A>T, NM_001127226.2:c.*486A>C, NM_001127226.1:c.*486A>T, NM_001127226.1:c.*486A>C, NM_001127227.2:c.*486A>T, NM_001127227.2:c.*486A>C, NM_001127227.1:c.*486A>T, NM_001127227.1:c.*486A>C, NM_001127223.1:c.*486A>T, NM_001127223.1:c.*486A>C

Select item 148856752314.

rs1488567523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33704880 (GRCh38)
11:33726426 (GRCh37)
Canonical SPDI:: NC_000011.10:33704879:A:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33704880A>G, NC_000011.9:g.33726426A>G, NG_008057.1:g.36599T>C, NM_000611.6:c.*5246T>C, NM_000611.5:c.*5246T>C, NM_203329.3:c.*5246T>C, NM_203329.2:c.*5246T>C, NM_203331.3:c.*5246T>C, NM_203331.2:c.*5246T>C, NM_203330.2:c.*5246T>C, NM_001127225.2:c.*5246T>C, NM_001127225.1:c.*5246T>C, NM_001127226.2:c.*5246T>C, NM_001127226.1:c.*5246T>C, NM_001127227.2:c.*5246T>C, NM_001127227.1:c.*5246T>C, NM_001127223.1:c.*5246T>C, XM_017017053.2:c.-2739T>C

Select item 148837940715.

rs1488379407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:33703561 (GRCh38)
11:33725107 (GRCh37)
Canonical SPDI:: NC_000011.10:33703560:T:C
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33703561T>C, NC_000011.9:g.33725107T>C, NG_008057.1:g.37918A>G, NM_000611.6:c.*6565A>G, NM_000611.5:c.*6565A>G, NM_203329.3:c.*6565A>G, NM_203329.2:c.*6565A>G, NM_203331.3:c.*6565A>G, NM_203331.2:c.*6565A>G, NM_203330.2:c.*6565A>G, NM_001127225.2:c.*6565A>G, NM_001127225.1:c.*6565A>G, NM_001127226.2:c.*6565A>G, NM_001127226.1:c.*6565A>G, NM_001127227.2:c.*6565A>G, NM_001127227.1:c.*6565A>G, NM_001127223.1:c.*6565A>G, XM_017017053.2:c.-1420A>G

Select item 148822617116.

rs1488226171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:33706535 (GRCh38)
11:33728081 (GRCh37)
Canonical SPDI:: NC_000011.10:33706534:A:G,NC_000011.10:33706534:A:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.33706535A>G, NC_000011.10:g.33706535A>T, NC_000011.9:g.33728081A>G, NC_000011.9:g.33728081A>T, NG_008057.1:g.34944T>C, NG_008057.1:g.34944T>A, NM_000611.6:c.*3591T>C, NM_000611.6:c.*3591T>A, NM_000611.5:c.*3591T>C, NM_000611.5:c.*3591T>A, NM_203329.3:c.*3591T>C, NM_203329.3:c.*3591T>A, NM_203329.2:c.*3591T>C, NM_203329.2:c.*3591T>A, NM_203331.3:c.*3591T>C, NM_203331.3:c.*3591T>A, NM_203331.2:c.*3591T>C, NM_203331.2:c.*3591T>A, NM_203330.2:c.*3591T>C, NM_203330.2:c.*3591T>A, NM_001127225.2:c.*3591T>C, NM_001127225.2:c.*3591T>A, NM_001127225.1:c.*3591T>C, NM_001127225.1:c.*3591T>A, NM_001127226.2:c.*3591T>C, NM_001127226.2:c.*3591T>A, NM_001127226.1:c.*3591T>C, NM_001127226.1:c.*3591T>A, NM_001127227.2:c.*3591T>C, NM_001127227.2:c.*3591T>A, NM_001127227.1:c.*3591T>C, NM_001127227.1:c.*3591T>A, NM_001127223.1:c.*3591T>C, NM_001127223.1:c.*3591T>A, XM_017017053.2:c.-4394T>C, XM_017017053.2:c.-4394T>A

Select item 148755089617.

rs1487550896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:33703391 (GRCh38)
11:33724937 (GRCh37)
Canonical SPDI:: NC_000011.10:33703390:C:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.33703391C>G, NC_000011.9:g.33724937C>G, NG_008057.1:g.38088G>C, NM_000611.6:c.*6735G>C, NM_000611.5:c.*6735G>C, NM_203329.3:c.*6735G>C, NM_203329.2:c.*6735G>C, NM_203331.3:c.*6735G>C, NM_203331.2:c.*6735G>C, NM_203330.2:c.*6735G>C, NM_001127225.2:c.*6735G>C, NM_001127225.1:c.*6735G>C, NM_001127226.2:c.*6735G>C, NM_001127226.1:c.*6735G>C, NM_001127227.2:c.*6735G>C, NM_001127227.1:c.*6735G>C, NM_001127223.1:c.*6735G>C, XM_017017053.2:c.-1250G>C

Select item 148683220318.

rs1486832203 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148680742419.

rs1486807424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:33709776 (GRCh38)
11:33731322 (GRCh37)
Canonical SPDI:: NC_000011.10:33709775:T:A,NC_000011.10:33709775:T:G
Gene:: CD59 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33709776T>A, NC_000011.10:g.33709776T>G, NC_000011.9:g.33731322T>A, NC_000011.9:g.33731322T>G, NG_008057.1:g.31703A>T, NG_008057.1:g.31703A>C, NM_000611.6:c.*350A>T, NM_000611.6:c.*350A>C, NM_000611.5:c.*350A>T, NM_000611.5:c.*350A>C, NM_203329.3:c.*350A>T, NM_203329.3:c.*350A>C, NM_203329.2:c.*350A>T, NM_203329.2:c.*350A>C, NM_203331.3:c.*350A>T, NM_203331.3:c.*350A>C, NM_203331.2:c.*350A>T, NM_203331.2:c.*350A>C, NM_203330.2:c.*350A>T, NM_203330.2:c.*350A>C, NM_001127225.2:c.*350A>T, NM_001127225.2:c.*350A>C, NM_001127225.1:c.*350A>T, NM_001127225.1:c.*350A>C, NM_001127226.2:c.*350A>T, NM_001127226.2:c.*350A>C, NM_001127226.1:c.*350A>T, NM_001127226.1:c.*350A>C, NM_001127227.2:c.*350A>T, NM_001127227.2:c.*350A>C, NM_001127227.1:c.*350A>T, NM_001127227.1:c.*350A>C, NM_001127223.1:c.*350A>T, NM_001127223.1:c.*350A>C

Select item 148497647020.

rs1484976470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:33706567 (GRCh38)
11:33728113 (GRCh37)
Canonical SPDI:: NC_000011.10:33706566:A:C
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.33706567A>C, NC_000011.9:g.33728113A>C, NG_008057.1:g.34912T>G, NM_000611.6:c.*3559T>G, NM_000611.5:c.*3559T>G, NM_203329.3:c.*3559T>G, NM_203329.2:c.*3559T>G, NM_203331.3:c.*3559T>G, NM_203331.2:c.*3559T>G, NM_203330.2:c.*3559T>G, NM_001127225.2:c.*3559T>G, NM_001127225.1:c.*3559T>G, NM_001127226.2:c.*3559T>G, NM_001127226.1:c.*3559T>G, NM_001127227.2:c.*3559T>G, NM_001127227.1:c.*3559T>G, NM_001127223.1:c.*3559T>G

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