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Select item 14915365331.

rs1491536533 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 9:123359442 (GRCh38)
9:126121722 (GRCh37)
Canonical SPDI:: NC_000009.12:123359442:TTT:TTTGTTT
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0.00008/1 (ALFA)
TTTG=0.00057/13 (TOMMO)
HGVS:: NC_000009.12:g.123359445_123359446insGTTT, NC_000009.11:g.126121724_126121725insGTTT, NG_051311.1:g.10381_10382insGTTT

Select item 14914593022.

rs1491459302 has merged into rs3050063 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:123366953 (GRCh38)
9:126129232 (GRCh37)
Canonical SPDI:: NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0499/185 (TWINSUK)
-=0.0501/193 (ALSPAC)
-=0.4153/2080 (1000Genomes)
HGVS:: NC_000009.12:g.123366953_123366962del, NC_000009.12:g.123366958_123366962del, NC_000009.12:g.123366959_123366962del, NC_000009.12:g.123366960_123366962del, NC_000009.12:g.123366961_123366962del, NC_000009.12:g.123366962del, NC_000009.12:g.123366962dup, NC_000009.12:g.123366961_123366962dup, NC_000009.12:g.123366960_123366962dup, NC_000009.12:g.123366959_123366962dup, NC_000009.12:g.123366958_123366962dup, NC_000009.11:g.126129232_126129241del, NC_000009.11:g.126129237_126129241del, NC_000009.11:g.126129238_126129241del, NC_000009.11:g.126129239_126129241del, NC_000009.11:g.126129240_126129241del, NC_000009.11:g.126129241del, NC_000009.11:g.126129241dup, NC_000009.11:g.126129240_126129241dup, NC_000009.11:g.126129239_126129241dup, NC_000009.11:g.126129238_126129241dup, NC_000009.11:g.126129237_126129241dup, NG_051311.1:g.17889_17898del, NG_051311.1:g.17894_17898del, NG_051311.1:g.17895_17898del, NG_051311.1:g.17896_17898del, NG_051311.1:g.17897_17898del, NG_051311.1:g.17898del, NG_051311.1:g.17898dup, NG_051311.1:g.17897_17898dup, NG_051311.1:g.17896_17898dup, NG_051311.1:g.17895_17898dup, NG_051311.1:g.17894_17898dup

Select item 14914178043.

rs1491417804 has merged into rs112317994 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 9:123353953 (GRCh38)
9:126116232 (GRCh37)
Canonical SPDI:: NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000009.12:123353944:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000009.12:g.123353953_123353954del, NC_000009.12:g.123353954del, NC_000009.12:g.123353954dup, NC_000009.12:g.123353953_123353954dup, NC_000009.12:g.123353952_123353954dup, NC_000009.12:g.123353951_123353954dup, NC_000009.12:g.123353950_123353954dup, NC_000009.12:g.123353949_123353954dup, NC_000009.12:g.123353948_123353954dup, NC_000009.12:g.123353947_123353954dup, NC_000009.12:g.123353946_123353954dup, NC_000009.12:g.123353945_123353954dup, NC_000009.12:g.123353954_123353955insGGGGGGGGGGG, NC_000009.12:g.123353954_123353955insGGGGGGGGGGGGG, NC_000009.12:g.123353954_123353955insGGGGGGGGGGGGGG, NC_000009.12:g.123353954_123353955insGGGGGGGGGGGGGGGGGG, NC_000009.12:g.123353954_123353955insGGGGGGGGGGGGGGGGGGGG, NC_000009.11:g.126116232_126116233del, NC_000009.11:g.126116233del, NC_000009.11:g.126116233dup, NC_000009.11:g.126116232_126116233dup, NC_000009.11:g.126116231_126116233dup, NC_000009.11:g.126116230_126116233dup, NC_000009.11:g.126116229_126116233dup, NC_000009.11:g.126116228_126116233dup, NC_000009.11:g.126116227_126116233dup, NC_000009.11:g.126116226_126116233dup, NC_000009.11:g.126116225_126116233dup, NC_000009.11:g.126116224_126116233dup, NC_000009.11:g.126116233_126116234insGGGGGGGGGGG, NC_000009.11:g.126116233_126116234insGGGGGGGGGGGGG, NC_000009.11:g.126116233_126116234insGGGGGGGGGGGGGG, NC_000009.11:g.126116233_126116234insGGGGGGGGGGGGGGGGGG, NC_000009.11:g.126116233_126116234insGGGGGGGGGGGGGGGGGGGG, NG_051311.1:g.4889_4890del, NG_051311.1:g.4890del, NG_051311.1:g.4890dup, NG_051311.1:g.4889_4890dup, NG_051311.1:g.4888_4890dup, NG_051311.1:g.4887_4890dup, NG_051311.1:g.4886_4890dup, NG_051311.1:g.4885_4890dup, NG_051311.1:g.4884_4890dup, NG_051311.1:g.4883_4890dup, NG_051311.1:g.4882_4890dup, NG_051311.1:g.4881_4890dup, NG_051311.1:g.4890_4891insGGGGGGGGGGG, NG_051311.1:g.4890_4891insGGGGGGGGGGGGG, NG_051311.1:g.4890_4891insGGGGGGGGGGGGGG, NG_051311.1:g.4890_4891insGGGGGGGGGGGGGGGGGG, NG_051311.1:g.4890_4891insGGGGGGGGGGGGGGGGGGGG

Select item 14914029654.

rs1491402965 has merged into rs375773781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:123359453 (GRCh38)
9:126121732 (GRCh37)
Canonical SPDI:: NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123359441:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3301/138 (NorthernSweden)
HGVS:: NC_000009.12:g.123359453_123359466del, NC_000009.12:g.123359456_123359466del, NC_000009.12:g.123359457_123359466del, NC_000009.12:g.123359458_123359466del, NC_000009.12:g.123359459_123359466del, NC_000009.12:g.123359460_123359466del, NC_000009.12:g.123359461_123359466del, NC_000009.12:g.123359462_123359466del, NC_000009.12:g.123359463_123359466del, NC_000009.12:g.123359464_123359466del, NC_000009.12:g.123359465_123359466del, NC_000009.12:g.123359466del, NC_000009.12:g.123359466dup, NC_000009.12:g.123359465_123359466dup, NC_000009.12:g.123359464_123359466dup, NC_000009.12:g.123359463_123359466dup, NC_000009.12:g.123359462_123359466dup, NC_000009.12:g.123359461_123359466dup, NC_000009.12:g.123359460_123359466dup, NC_000009.12:g.123359459_123359466dup, NC_000009.12:g.123359458_123359466dup, NC_000009.12:g.123359457_123359466dup, NC_000009.12:g.123359456_123359466dup, NC_000009.12:g.123359455_123359466dup, NC_000009.12:g.123359454_123359466dup, NC_000009.12:g.123359453_123359466dup, NC_000009.12:g.123359452_123359466dup, NC_000009.12:g.123359451_123359466dup, NC_000009.12:g.123359450_123359466dup, NC_000009.12:g.123359449_123359466dup, NC_000009.12:g.123359448_123359466dup, NC_000009.12:g.123359447_123359466dup, NC_000009.12:g.123359446_123359466dup, NC_000009.12:g.123359445_123359466dup, NC_000009.12:g.123359444_123359466dup, NC_000009.12:g.123359443_123359466dup, NC_000009.12:g.123359442_123359466dup, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123359466_123359467insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121732_126121745del, NC_000009.11:g.126121735_126121745del, NC_000009.11:g.126121736_126121745del, NC_000009.11:g.126121737_126121745del, NC_000009.11:g.126121738_126121745del, NC_000009.11:g.126121739_126121745del, NC_000009.11:g.126121740_126121745del, NC_000009.11:g.126121741_126121745del, NC_000009.11:g.126121742_126121745del, NC_000009.11:g.126121743_126121745del, NC_000009.11:g.126121744_126121745del, NC_000009.11:g.126121745del, NC_000009.11:g.126121745dup, NC_000009.11:g.126121744_126121745dup, NC_000009.11:g.126121743_126121745dup, NC_000009.11:g.126121742_126121745dup, NC_000009.11:g.126121741_126121745dup, NC_000009.11:g.126121740_126121745dup, NC_000009.11:g.126121739_126121745dup, NC_000009.11:g.126121738_126121745dup, NC_000009.11:g.126121737_126121745dup, NC_000009.11:g.126121736_126121745dup, NC_000009.11:g.126121735_126121745dup, NC_000009.11:g.126121734_126121745dup, NC_000009.11:g.126121733_126121745dup, NC_000009.11:g.126121732_126121745dup, NC_000009.11:g.126121731_126121745dup, NC_000009.11:g.126121730_126121745dup, NC_000009.11:g.126121729_126121745dup, NC_000009.11:g.126121728_126121745dup, NC_000009.11:g.126121727_126121745dup, NC_000009.11:g.126121726_126121745dup, NC_000009.11:g.126121725_126121745dup, NC_000009.11:g.126121724_126121745dup, NC_000009.11:g.126121723_126121745dup, NC_000009.11:g.126121722_126121745dup, NC_000009.11:g.126121721_126121745dup, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.126121745_126121746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10389_10402del, NG_051311.1:g.10392_10402del, NG_051311.1:g.10393_10402del, NG_051311.1:g.10394_10402del, NG_051311.1:g.10395_10402del, NG_051311.1:g.10396_10402del, NG_051311.1:g.10397_10402del, NG_051311.1:g.10398_10402del, NG_051311.1:g.10399_10402del, NG_051311.1:g.10400_10402del, NG_051311.1:g.10401_10402del, NG_051311.1:g.10402del, NG_051311.1:g.10402dup, NG_051311.1:g.10401_10402dup, NG_051311.1:g.10400_10402dup, NG_051311.1:g.10399_10402dup, NG_051311.1:g.10398_10402dup, NG_051311.1:g.10397_10402dup, NG_051311.1:g.10396_10402dup, NG_051311.1:g.10395_10402dup, NG_051311.1:g.10394_10402dup, NG_051311.1:g.10393_10402dup, NG_051311.1:g.10392_10402dup, NG_051311.1:g.10391_10402dup, NG_051311.1:g.10390_10402dup, NG_051311.1:g.10389_10402dup, NG_051311.1:g.10388_10402dup, NG_051311.1:g.10387_10402dup, NG_051311.1:g.10386_10402dup, NG_051311.1:g.10385_10402dup, NG_051311.1:g.10384_10402dup, NG_051311.1:g.10383_10402dup, NG_051311.1:g.10382_10402dup, NG_051311.1:g.10381_10402dup, NG_051311.1:g.10380_10402dup, NG_051311.1:g.10379_10402dup, NG_051311.1:g.10378_10402dup, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051311.1:g.10402_10403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913940045.

rs1491394004 has merged into rs1554781922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:123361137 (GRCh38)
9:126123416 (GRCh37)
Canonical SPDI:: NC_000009.12:123361135:GAG:G
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00211/25 (ALFA)
-=0.0029/39 (TOMMO)
-=0.00399/252 (GnomAD)
-=0.00563/9 (Korea1K)
HGVS:: NC_000009.12:g.123361137_123361138del, NC_000009.11:g.126123416_126123417del, NG_051311.1:g.12073_12074del

Select item 14911507066.

rs1491150706 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 9:123353945 (GRCh38)
9:126116225 (GRCh37)
Canonical SPDI:: NC_000009.12:123353945:GG:GGTGG
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGTGG=0./0 (ALFA)
HGVS:: NC_000009.12:g.123353947_123353948insTGG, NC_000009.11:g.126116226_126116227insTGG, NG_051311.1:g.4883_4884insTGG

Select item 14910672567.

rs1491067256 has merged into rs3050063 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:123366953 (GRCh38)
9:126129232 (GRCh37)
Canonical SPDI:: NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123366944:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0499/185 (TWINSUK)
-=0.0501/193 (ALSPAC)
-=0.4153/2080 (1000Genomes)
HGVS:: NC_000009.12:g.123366953_123366962del, NC_000009.12:g.123366958_123366962del, NC_000009.12:g.123366959_123366962del, NC_000009.12:g.123366960_123366962del, NC_000009.12:g.123366961_123366962del, NC_000009.12:g.123366962del, NC_000009.12:g.123366962dup, NC_000009.12:g.123366961_123366962dup, NC_000009.12:g.123366960_123366962dup, NC_000009.12:g.123366959_123366962dup, NC_000009.12:g.123366958_123366962dup, NC_000009.11:g.126129232_126129241del, NC_000009.11:g.126129237_126129241del, NC_000009.11:g.126129238_126129241del, NC_000009.11:g.126129239_126129241del, NC_000009.11:g.126129240_126129241del, NC_000009.11:g.126129241del, NC_000009.11:g.126129241dup, NC_000009.11:g.126129240_126129241dup, NC_000009.11:g.126129239_126129241dup, NC_000009.11:g.126129238_126129241dup, NC_000009.11:g.126129237_126129241dup, NG_051311.1:g.17889_17898del, NG_051311.1:g.17894_17898del, NG_051311.1:g.17895_17898del, NG_051311.1:g.17896_17898del, NG_051311.1:g.17897_17898del, NG_051311.1:g.17898del, NG_051311.1:g.17898dup, NG_051311.1:g.17897_17898dup, NG_051311.1:g.17896_17898dup, NG_051311.1:g.17895_17898dup, NG_051311.1:g.17894_17898dup

Select item 14910420008.

rs1491042000 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:123366961 (GRCh38)
9:126129241 (GRCh37)
Canonical SPDI:: NC_000009.12:123366961::C
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.123366961_123366962insC, NC_000009.11:g.126129240_126129241insC, NG_051311.1:g.17897_17898insC

Select item 14909922819.

rs1490992281 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:123371448 (GRCh38)
9:126133728 (GRCh37)
Canonical SPDI:: NC_000009.12:123371448:CC:CCC
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.123371450dup, NC_000009.11:g.126133729dup, NG_051311.1:g.22386dup, NM_173689.7:c.2308dup, NM_173689.6:c.2308dup, NM_173689.5:c.2308dup, NR_104603.2:n.1422dup, NR_104603.1:n.1422dup, XM_011518558.4:c.2113dup, XM_011518558.3:c.2113dup, XM_011518558.2:c.2113dup, XM_011518558.1:c.2113dup, XM_011518557.4:c.2113dup, XM_011518557.3:c.2113dup, XM_011518557.2:c.2113dup, XM_011518557.1:c.2113dup, XM_011518556.4:c.2308dup, XM_011518556.3:c.2308dup, XM_011518556.2:c.2308dup, XM_011518556.1:c.2308dup, XM_005251934.4:c.1312dup, XM_005251934.3:c.1312dup, XM_005251934.2:c.1312dup, XM_005251934.1:c.1312dup, XM_047423244.1:c.2194dup, XM_047423245.1:c.2194dup, NP_775960.4:p.Leu770fs, XP_011516860.1:p.Leu705fs, XP_011516859.1:p.Leu705fs, XP_011516858.1:p.Leu770fs, XP_005251991.1:p.Leu438fs, XP_047279200.1:p.Leu732fs, XP_047279201.1:p.Leu732fs

Select item 149087797510.

rs1490877975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123359500 (GRCh38)
9:126121779 (GRCh37)
Canonical SPDI:: NC_000009.12:123359499:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123359500G>A, NC_000009.11:g.126121779G>A, NG_051311.1:g.10436G>A

Select item 149085689711.

rs1490856897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:123373112 (GRCh38)
9:126135391 (GRCh37)
Canonical SPDI:: NC_000009.12:123373111:C:T
Gene:: CRB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.123373112C>T, NC_000009.11:g.126135391C>T, NG_051311.1:g.24048C>T

Select item 149075763912.

rs1490757639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:123365780 (GRCh38)
9:126128059 (GRCh37)
Canonical SPDI:: NC_000009.12:123365779:C:G
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.123365780C>G, NC_000009.11:g.126128059C>G, NG_051311.1:g.16716C>G

Select item 149050931913.

rs1490509319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123356656 (GRCh38)
9:126118935 (GRCh37)
Canonical SPDI:: NC_000009.12:123356655:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123356656T>C, NC_000009.11:g.126118935T>C, NG_051311.1:g.7592T>C

Select item 149043720914.

rs1490437209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:123354797 (GRCh38)
9:126117076 (GRCh37)
Canonical SPDI:: NC_000009.12:123354796:T:G
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.123354797T>G, NC_000009.11:g.126117076T>G, NG_051311.1:g.5733T>G

Select item 149016533215.

rs1490165332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:123355033 (GRCh38)
9:126117312 (GRCh37)
Canonical SPDI:: NC_000009.12:123355032:A:G
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.123355033A>G, NC_000009.11:g.126117312A>G, NG_051311.1:g.5969A>G

Select item 149013494616.

rs1490134946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:123352384 (GRCh38)
9:126114663 (GRCh37)
Canonical SPDI:: NC_000009.12:123352383:A:G
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.123352384A>G, NC_000009.11:g.126114663A>G, NG_051311.1:g.3320A>G

Select item 149010833317.

rs1490108333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:123353007 (GRCh38)
9:126115286 (GRCh37)
Canonical SPDI:: NC_000009.12:123353006:C:T
Gene:: CRB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.123353007C>T, NC_000009.11:g.126115286C>T, NG_051311.1:g.3943C>T

Select item 149009638218.

rs1490096382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123380434 (GRCh38)
9:126142713 (GRCh37)
Canonical SPDI:: NC_000009.12:123380433:G:A
Gene:: DENND1A (Varview), CRB2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.001699/28 (TOMMO)
A=0.002183/4 (Korea1K)
A=0.004449/13 (KOREAN)
HGVS:: NC_000009.12:g.123380434G>A, NC_000009.11:g.126142713G>A, NG_051311.1:g.31370G>A, XM_006717195.5:c.*998C>T, XM_006717195.4:c.*998C>T, XM_006717195.2:c.*998C>T, XM_006717195.1:c.*998C>T, XM_005252111.5:c.*998C>T, XM_005252111.4:c.*998C>T, XM_005252111.3:c.*998C>T, XM_005252111.2:c.*998C>T, XM_005252111.1:c.*998C>T, XM_011518882.4:c.*998C>T, XM_011518882.3:c.*998C>T, XM_011518882.2:c.*998C>T, XM_011518882.1:c.*998C>T, XM_011518886.4:c.*998C>T, XM_011518886.3:c.*998C>T, XM_011518886.2:c.*998C>T, XM_011518886.1:c.*998C>T, XM_011518885.4:c.*998C>T, XM_011518885.3:c.*998C>T, XM_011518885.2:c.*998C>T, XM_011518885.1:c.*998C>T, NM_001352964.2:c.*998C>T, NM_001352964.1:c.*998C>T, XM_024447622.2:c.*998C>T, XM_024447622.1:c.*998C>T, XM_024447621.2:c.*998C>T, XM_024447621.1:c.*998C>T, NM_001352965.2:c.*998C>T, NM_001352965.1:c.*998C>T, NM_020946.2:c.*998C>T, NM_020946.1:c.*998C>T, XM_024447623.2:c.*998C>T, XM_024447623.1:c.*998C>T, XM_047423613.1:c.*998C>T, XM_047423615.1:c.*998C>T, XM_047423614.1:c.*998C>T, NM_001393654.1:c.*998C>T, XM_047423616.1:c.*998C>T, NM_001400449.1:c.*998C>T, XM_047423618.1:c.*998C>T, XM_047423619.1:c.*998C>T, XM_047423620.1:c.*998C>T, XM_047423622.1:c.*998C>T, XM_047423623.1:c.*998C>T, XM_047423621.1:c.*998C>T, XM_047423624.1:c.*998C>T, XM_047423625.1:c.*998C>T

Select item 148998488219.

rs1489984882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123371544 (GRCh38)
9:126133823 (GRCh37)
Canonical SPDI:: NC_000009.12:123371543:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.123371544T>C, NC_000009.11:g.126133823T>C, NG_051311.1:g.22480T>C, NM_173689.7:c.2402T>C, NM_173689.6:c.2402T>C, NM_173689.5:c.2402T>C, NR_104603.2:n.1516T>C, NR_104603.1:n.1516T>C, XM_011518558.4:c.2207T>C, XM_011518558.3:c.2207T>C, XM_011518558.2:c.2207T>C, XM_011518558.1:c.2207T>C, XM_011518557.4:c.2207T>C, XM_011518557.3:c.2207T>C, XM_011518557.2:c.2207T>C, XM_011518557.1:c.2207T>C, XM_011518556.4:c.2402T>C, XM_011518556.3:c.2402T>C, XM_011518556.2:c.2402T>C, XM_011518556.1:c.2402T>C, XM_005251934.4:c.1406T>C, XM_005251934.3:c.1406T>C, XM_005251934.2:c.1406T>C, XM_005251934.1:c.1406T>C, XM_047423244.1:c.2288T>C, XM_047423245.1:c.2288T>C, NP_775960.4:p.Leu801Pro, XP_011516860.1:p.Leu736Pro, XP_011516859.1:p.Leu736Pro, XP_011516858.1:p.Leu801Pro, XP_005251991.1:p.Leu469Pro, XP_047279200.1:p.Leu763Pro, XP_047279201.1:p.Leu763Pro

Select item 148996264820.

rs1489962648 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:123355948 (GRCh38)
9:126118227 (GRCh37)
Canonical SPDI:: NC_000009.12:123355947:AA:A
Gene:: CRB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000009.12:g.123355949del, NC_000009.11:g.126118228del, NG_051311.1:g.6885del

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