SNP Links for Gene (Select 966) - 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 14912191684.

rs1491219168 has merged into rs61690708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 11:33737250 (GRCh38)
11:33758796 (GRCh37)
Canonical SPDI:: NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:33737235:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: CD59 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000011.10:g.33737236AC[7], NC_000011.10:g.33737236AC[8], NC_000011.10:g.33737236AC[9], NC_000011.10:g.33737236AC[10], NC_000011.10:g.33737236AC[11], NC_000011.10:g.33737236AC[12], NC_000011.10:g.33737236AC[13], NC_000011.10:g.33737236AC[14], NC_000011.10:g.33737236AC[15], NC_000011.10:g.33737236AC[16], NC_000011.10:g.33737236AC[17], NC_000011.10:g.33737236AC[18], NC_000011.10:g.33737236AC[19], NC_000011.10:g.33737236AC[21], NC_000011.10:g.33737236AC[22], NC_000011.10:g.33737236AC[23], NC_000011.10:g.33737236AC[24], NC_000011.10:g.33737236AC[25], NC_000011.10:g.33737236AC[26], NC_000011.9:g.33758782AC[7], NC_000011.9:g.33758782AC[8], NC_000011.9:g.33758782AC[9], NC_000011.9:g.33758782AC[10], NC_000011.9:g.33758782AC[11], NC_000011.9:g.33758782AC[12], NC_000011.9:g.33758782AC[13], NC_000011.9:g.33758782AC[14], NC_000011.9:g.33758782AC[15], NC_000011.9:g.33758782AC[16], NC_000011.9:g.33758782AC[17], NC_000011.9:g.33758782AC[18], NC_000011.9:g.33758782AC[19], NC_000011.9:g.33758782AC[21], NC_000011.9:g.33758782AC[22], NC_000011.9:g.33758782AC[23], NC_000011.9:g.33758782AC[24], NC_000011.9:g.33758782AC[25], NC_000011.9:g.33758782AC[26], NG_008057.1:g.4204GT[7], NG_008057.1:g.4204GT[8], NG_008057.1:g.4204GT[9], NG_008057.1:g.4204GT[10], NG_008057.1:g.4204GT[11], NG_008057.1:g.4204GT[12], NG_008057.1:g.4204GT[13], NG_008057.1:g.4204GT[14], NG_008057.1:g.4204GT[15], NG_008057.1:g.4204GT[16], NG_008057.1:g.4204GT[17], NG_008057.1:g.4204GT[18], NG_008057.1:g.4204GT[19], NG_008057.1:g.4204GT[21], NG_008057.1:g.4204GT[22], NG_008057.1:g.4204GT[23], NG_008057.1:g.4204GT[24], NG_008057.1:g.4204GT[25], NG_008057.1:g.4204GT[26]

Select item 14912174895.

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 14912039506.

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 14911728377.

rs1491172837 has merged into rs35899420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACCAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAACAAAACCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:33725294 (GRCh38)
11:33746840 (GRCh37)
Canonical SPDI:: NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33725285:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAACAAAACCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
Gene:: CD59 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000011.10:g.33725294_33725303del, NC_000011.10:g.33725295_33725303del, NC_000011.10:g.33725297_33725303del, NC_000011.10:g.33725300_33725303del, NC_000011.10:g.33725301_33725303del, NC_000011.10:g.33725302_33725303del, NC_000011.10:g.33725303del, NC_000011.10:g.33725303dup, NC_000011.10:g.33725302_33725303dup, NC_000011.10:g.33725301_33725303dup, NC_000011.10:g.33725300_33725303dup, NC_000011.10:g.33725299_33725303dup, NC_000011.10:g.33725298_33725303dup, NC_000011.10:g.33725297_33725303dup, NC_000011.10:g.33725286_33725303A[26]CCAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.33725286_33725303A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.33725286_33725303A[20]CAA[2]AACCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.33746840_33746849del, NC_000011.9:g.33746841_33746849del, NC_000011.9:g.33746843_33746849del, NC_000011.9:g.33746846_33746849del, NC_000011.9:g.33746847_33746849del, NC_000011.9:g.33746848_33746849del, NC_000011.9:g.33746849del, NC_000011.9:g.33746849dup, NC_000011.9:g.33746848_33746849dup, NC_000011.9:g.33746847_33746849dup, NC_000011.9:g.33746846_33746849dup, NC_000011.9:g.33746845_33746849dup, NC_000011.9:g.33746844_33746849dup, NC_000011.9:g.33746843_33746849dup, NC_000011.9:g.33746832_33746849A[26]CCAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.33746832_33746849A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.33746832_33746849A[20]CAA[2]AACCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA[1], NG_008057.1:g.16184_16193del, NG_008057.1:g.16185_16193del, NG_008057.1:g.16187_16193del, NG_008057.1:g.16190_16193del, NG_008057.1:g.16191_16193del, NG_008057.1:g.16192_16193del, NG_008057.1:g.16193del, NG_008057.1:g.16193dup, NG_008057.1:g.16192_16193dup, NG_008057.1:g.16191_16193dup, NG_008057.1:g.16190_16193dup, NG_008057.1:g.16189_16193dup, NG_008057.1:g.16188_16193dup, NG_008057.1:g.16187_16193dup, NG_008057.1:g.16176_16193T[27]GTTGGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_008057.1:g.16176_16193T[52]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_008057.1:g.16176_16193T[21]CTTTTTTTTTTGGTTTTGTTGTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911145888.

rs1491114588 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 11:33710721 (GRCh38)
11:33732267 (GRCh37)
Canonical SPDI:: NC_000011.10:33710718:TTTT:TT,NC_000011.10:33710718:TTTT:TTTTT
Gene:: CD59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00025/3 (ALFA)
-=0.00265/17 (1000Genomes)
HGVS:: NC_000011.10:g.33710721_33710722del, NC_000011.10:g.33710722dup, NC_000011.9:g.33732267_33732268del, NC_000011.9:g.33732268dup, NG_008057.1:g.30759_30760del, NG_008057.1:g.30760dup

Select item 14908573059.

rs1490857305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33722821 (GRCh38)
11:33744367 (GRCh37)
Canonical SPDI:: NC_000011.10:33722820:G:A
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.33722821G>A, NC_000011.9:g.33744367G>A, NG_008057.1:g.18658C>T

Select item 149080275310.

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 149074273611.

rs1490742736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:33727376 (GRCh38)
11:33748922 (GRCh37)
Canonical SPDI:: NC_000011.10:33727375:A:C
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000011.10:g.33727376A>C, NC_000011.9:g.33748922A>C, NG_008057.1:g.14103T>G

Select item 149073759312.

rs1490737593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33722360 (GRCh38)
11:33743906 (GRCh37)
Canonical SPDI:: NC_000011.10:33722359:C:T
Gene:: CD59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33722360C>T, NC_000011.9:g.33743906C>T, NG_008057.1:g.19119G>A

Select item 149063812113.

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 149059128514.

rs1490591285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33728466 (GRCh38)
11:33750012 (GRCh37)
Canonical SPDI:: NC_000011.10:33728465:A:G
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.33728466A>G, NC_000011.9:g.33750012A>G, NG_008057.1:g.13013T>C

Select item 149059011815.

rs1490590118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:33724003 (GRCh38)
11:33745549 (GRCh37)
Canonical SPDI:: NC_000011.10:33724002:G:C
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33724003G>C, NC_000011.9:g.33745549G>C, NG_008057.1:g.17476C>G

Select item 149055530916.

rs1490555309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:33731144 (GRCh38)
11:33752690 (GRCh37)
Canonical SPDI:: NC_000011.10:33731143:A:C
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.33731144A>C, NC_000011.9:g.33752690A>C, NG_008057.1:g.10335T>G

Select item 149054643417.

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 149045373418.

rs1490453734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33715606 (GRCh38)
11:33737152 (GRCh37)
Canonical SPDI:: NC_000011.10:33715605:G:A
Gene:: CD59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0011/18 (ALFA)
HGVS:: NC_000011.10:g.33715606G>A, NC_000011.9:g.33737152G>A, NG_008057.1:g.25873C>T

Select item 149045104319.

rs1490451043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:33714494 (GRCh38)
11:33736040 (GRCh37)
Canonical SPDI:: NC_000011.10:33714493:G:C
Gene:: CD59 (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:: NC_000011.10:g.33714494G>C, NC_000011.9:g.33736040G>C, NG_008057.1:g.26985C>G

Select item 149038508620.

rs1490385086 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:33732057 (GRCh38)
11:33753603 (GRCh37)
Canonical SPDI:: NC_000011.10:33732055:TGT:T
Gene:: CD59 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.33732057_33732058del, NC_000011.9:g.33753603_33753604del, NG_008057.1:g.9422_9423del

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