SNP Links for Gene (Select 245711) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915278831.

rs1491527883 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:28824493 (GRCh38)
2:29047360 (GRCh37)
Canonical SPDI:: NC_000002.12:28824493::C
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/3 (ALFA)
C=0.001/28 (GnomAD)
HGVS:: NC_000002.12:g.28824493_28824494insC, NC_000002.11:g.29047359_29047360insC

Select item 14915102472.

rs1491510247 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:28824492 (GRCh38)
2:29047358 (GRCh37)
Canonical SPDI:: NC_000002.12:28824490:ACA:A
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00514/61 (ALFA)
HGVS:: NC_000002.12:g.28824492_28824493del, NC_000002.11:g.29047358_29047359del

Select item 14914792233.

rs1491479223 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT,TATATATATATATAT,TATATATATATATATAT,TATATATATATATATATAT,TATATATATATATATATATAT,TATATATATATATATATATATAT,TATATATATATATGTAT,TATATATATGTAT,TATATATGTAT,TATATGTAT,TATGTAT,TGTAT [Show Flanks]
Chromosome:: 2:28823745 (GRCh38)
2:29046612 (GRCh37)
Canonical SPDI:: NC_000002.12:28823745::T,NC_000002.12:28823745::TAT,NC_000002.12:28823745::TATAT,NC_000002.12:28823745::TATATAT,NC_000002.12:28823745::TATATATAT,NC_000002.12:28823745::TATATATATAT,NC_000002.12:28823745::TATATATATATAT,NC_000002.12:28823745::TATATATATATATAT,NC_000002.12:28823745::TATATATATATATATAT,NC_000002.12:28823745::TATATATATATATATATAT,NC_000002.12:28823745::TATATATATATATATATATAT,NC_000002.12:28823745::TATATATATATATATATATATAT,NC_000002.12:28823745::TATATATATATATGTAT,NC_000002.12:28823745::TATATATATGTAT,NC_000002.12:28823745::TATATATGTAT,NC_000002.12:28823745::TATATGTAT,NC_000002.12:28823745::TATGTAT,NC_000002.12:28823745::TGTAT
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.28823745_28823746insT, NC_000002.12:g.28823745_28823746insTAT, NC_000002.12:g.28823745_28823746insTATAT, NC_000002.12:g.28823745_28823746insTATATAT, NC_000002.12:g.28823745_28823746insTATATATAT, NC_000002.12:g.28823745_28823746insTATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATATATATATAT, NC_000002.12:g.28823745_28823746insTATATATATATATGTAT, NC_000002.12:g.28823745_28823746insTATATATATGTAT, NC_000002.12:g.28823745_28823746insTATATATGTAT, NC_000002.12:g.28823745_28823746insTATATGTAT, NC_000002.12:g.28823745_28823746insTATGTAT, NC_000002.12:g.28823745_28823746insTGTAT, NC_000002.11:g.29046611_29046612insT, NC_000002.11:g.29046611_29046612insTAT, NC_000002.11:g.29046611_29046612insTATAT, NC_000002.11:g.29046611_29046612insTATATAT, NC_000002.11:g.29046611_29046612insTATATATAT, NC_000002.11:g.29046611_29046612insTATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATATATATATAT, NC_000002.11:g.29046611_29046612insTATATATATATATGTAT, NC_000002.11:g.29046611_29046612insTATATATATGTAT, NC_000002.11:g.29046611_29046612insTATATATGTAT, NC_000002.11:g.29046611_29046612insTATATGTAT, NC_000002.11:g.29046611_29046612insTATGTAT, NC_000002.11:g.29046611_29046612insTGTAT

Select item 14914743464.

rs1491474346 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:28823748 (GRCh38)
2:29046614 (GRCh37)
Canonical SPDI:: NC_000002.12:28823747:AT:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00939/16 (Korea1K)
-=0.01146/187 (TOMMO)
-=0.0403/2638 (GnomAD)
HGVS:: NC_000002.12:g.28823748_28823749del, NC_000002.11:g.29046614_29046615del

Select item 14914720475.

rs1491472047 has merged into rs752026715 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTT [Show Flanks]
Chromosome:: 2:28823762 (GRCh38)
2:29046628 (GRCh37)
Canonical SPDI:: NC_000002.12:28823748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:28823748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:28823748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:28823748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3684/14 (GENOME_DK)
HGVS:: NC_000002.12:g.28823762_28823763del, NC_000002.12:g.28823763del, NC_000002.12:g.28823763dup, NC_000002.12:g.28823761_28823763dup, NC_000002.11:g.29046628_29046629del, NC_000002.11:g.29046629del, NC_000002.11:g.29046629dup, NC_000002.11:g.29046627_29046629dup

Select item 14914418846.

rs1491441884 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:28821191 (GRCh38)
2:29044057 (GRCh37)
Canonical SPDI:: NC_000002.12:28821189:TCT:T
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000002.12:g.28821191_28821192del, NC_000002.11:g.29044057_29044058del

Select item 14914365767.

rs1491436576 has merged into rs70956049 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:28817863 (GRCh38)
2:29040729 (GRCh37)
Canonical SPDI:: NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28817851:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000002.12:g.28817863_28817878del, NC_000002.12:g.28817864_28817878del, NC_000002.12:g.28817865_28817878del, NC_000002.12:g.28817866_28817878del, NC_000002.12:g.28817867_28817878del, NC_000002.12:g.28817868_28817878del, NC_000002.12:g.28817869_28817878del, NC_000002.12:g.28817871_28817878del, NC_000002.12:g.28817872_28817878del, NC_000002.12:g.28817873_28817878del, NC_000002.12:g.28817874_28817878del, NC_000002.12:g.28817875_28817878del, NC_000002.12:g.28817876_28817878del, NC_000002.12:g.28817877_28817878del, NC_000002.12:g.28817878del, NC_000002.12:g.28817878dup, NC_000002.12:g.28817877_28817878dup, NC_000002.12:g.28817874_28817878dup, NC_000002.11:g.29040729_29040744del, NC_000002.11:g.29040730_29040744del, NC_000002.11:g.29040731_29040744del, NC_000002.11:g.29040732_29040744del, NC_000002.11:g.29040733_29040744del, NC_000002.11:g.29040734_29040744del, NC_000002.11:g.29040735_29040744del, NC_000002.11:g.29040737_29040744del, NC_000002.11:g.29040738_29040744del, NC_000002.11:g.29040739_29040744del, NC_000002.11:g.29040740_29040744del, NC_000002.11:g.29040741_29040744del, NC_000002.11:g.29040742_29040744del, NC_000002.11:g.29040743_29040744del, NC_000002.11:g.29040744del, NC_000002.11:g.29040744dup, NC_000002.11:g.29040743_29040744dup, NC_000002.11:g.29040740_29040744dup

Select item 14914050368.

rs1491405036 has merged into rs777338299 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:28826622 (GRCh38)
2:29049488 (GRCh37)
Canonical SPDI:: NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28826611:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.28826622_28826636del, NC_000002.12:g.28826624_28826636del, NC_000002.12:g.28826625_28826636del, NC_000002.12:g.28826626_28826636del, NC_000002.12:g.28826627_28826636del, NC_000002.12:g.28826628_28826636del, NC_000002.12:g.28826629_28826636del, NC_000002.12:g.28826630_28826636del, NC_000002.12:g.28826631_28826636del, NC_000002.12:g.28826632_28826636del, NC_000002.12:g.28826633_28826636del, NC_000002.12:g.28826634_28826636del, NC_000002.12:g.28826635_28826636del, NC_000002.12:g.28826636del, NC_000002.12:g.28826636dup, NC_000002.12:g.28826635_28826636dup, NC_000002.12:g.28826634_28826636dup, NC_000002.12:g.28826633_28826636dup, NC_000002.12:g.28826632_28826636dup, NC_000002.12:g.28826631_28826636dup, NC_000002.12:g.28826630_28826636dup, NC_000002.12:g.28826629_28826636dup, NC_000002.12:g.28826628_28826636dup, NC_000002.12:g.28826627_28826636dup, NC_000002.12:g.28826626_28826636dup, NC_000002.12:g.28826625_28826636dup, NC_000002.12:g.28826624_28826636dup, NC_000002.12:g.28826612_28826636T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.28826623_28826636dup, NC_000002.12:g.28826622_28826636dup, NC_000002.12:g.28826621_28826636dup, NC_000002.12:g.28826620_28826636dup, NC_000002.12:g.28826619_28826636dup, NC_000002.12:g.28826618_28826636dup, NC_000002.12:g.28826617_28826636dup, NC_000002.12:g.28826612_28826636dup, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28826636_28826637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049488_29049502del, NC_000002.11:g.29049490_29049502del, NC_000002.11:g.29049491_29049502del, NC_000002.11:g.29049492_29049502del, NC_000002.11:g.29049493_29049502del, NC_000002.11:g.29049494_29049502del, NC_000002.11:g.29049495_29049502del, NC_000002.11:g.29049496_29049502del, NC_000002.11:g.29049497_29049502del, NC_000002.11:g.29049498_29049502del, NC_000002.11:g.29049499_29049502del, NC_000002.11:g.29049500_29049502del, NC_000002.11:g.29049501_29049502del, NC_000002.11:g.29049502del, NC_000002.11:g.29049502dup, NC_000002.11:g.29049501_29049502dup, NC_000002.11:g.29049500_29049502dup, NC_000002.11:g.29049499_29049502dup, NC_000002.11:g.29049498_29049502dup, NC_000002.11:g.29049497_29049502dup, NC_000002.11:g.29049496_29049502dup, NC_000002.11:g.29049495_29049502dup, NC_000002.11:g.29049494_29049502dup, NC_000002.11:g.29049493_29049502dup, NC_000002.11:g.29049492_29049502dup, NC_000002.11:g.29049491_29049502dup, NC_000002.11:g.29049490_29049502dup, NC_000002.11:g.29049478_29049502T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.29049489_29049502dup, NC_000002.11:g.29049488_29049502dup, NC_000002.11:g.29049487_29049502dup, NC_000002.11:g.29049486_29049502dup, NC_000002.11:g.29049485_29049502dup, NC_000002.11:g.29049484_29049502dup, NC_000002.11:g.29049483_29049502dup, NC_000002.11:g.29049478_29049502dup, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29049502_29049503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912777809.

rs1491277780 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:28839383 (GRCh38)
2:29062249 (GRCh37)
Canonical SPDI:: NC_000002.12:28839382:CT:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.28839383_28839384del, NC_000002.11:g.29062249_29062250del

Select item 149125070410.

rs1491250704 has merged into rs61540635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:28824499 (GRCh38)
2:29047365 (GRCh37)
Canonical SPDI:: NC_000002.12:28824492:AAAAAAAAAAAA:AAAAAA,NC_000002.12:28824492:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:28824492:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:28824492:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:28824492:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.3872/1939 (1000Genomes)
HGVS:: NC_000002.12:g.28824499_28824504del, NC_000002.12:g.28824503_28824504del, NC_000002.12:g.28824504del, NC_000002.12:g.28824504dup, NC_000002.12:g.28824493_28824504A[16]GA[2]A[49], NC_000002.11:g.29047365_29047370del, NC_000002.11:g.29047369_29047370del, NC_000002.11:g.29047370del, NC_000002.11:g.29047370dup, NC_000002.11:g.29047359_29047370A[16]GA[2]A[49]

Select item 149124905911.

rs1491249059 has merged into rs1295866091 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:28829949 (GRCh38)
2:29052815 (GRCh37)
Canonical SPDI:: NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:28829943:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.28829949_28829959del, NC_000002.12:g.28829957_28829959del, NC_000002.12:g.28829958_28829959del, NC_000002.12:g.28829959del, NC_000002.12:g.28829959dup, NC_000002.12:g.28829958_28829959dup, NC_000002.12:g.28829957_28829959dup, NC_000002.12:g.28829956_28829959dup, NC_000002.12:g.28829955_28829959dup, NC_000002.11:g.29052815_29052825del, NC_000002.11:g.29052823_29052825del, NC_000002.11:g.29052824_29052825del, NC_000002.11:g.29052825del, NC_000002.11:g.29052825dup, NC_000002.11:g.29052824_29052825dup, NC_000002.11:g.29052823_29052825dup, NC_000002.11:g.29052822_29052825dup, NC_000002.11:g.29052821_29052825dup

Select item 149123087012.

rs1491230870 has merged into rs1477965281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:28823747 (GRCh38)
2:29046613 (GRCh37)
Canonical SPDI:: NC_000002.12:28823744:AAAA:AA,NC_000002.12:28823744:AAAA:AAA,NC_000002.12:28823744:AAAA:AAAAA,NC_000002.12:28823744:AAAA:AAAAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.00075/12 (TOMMO)
HGVS:: NC_000002.12:g.28823747_28823748del, NC_000002.12:g.28823748del, NC_000002.12:g.28823748dup, NC_000002.12:g.28823747_28823748dup, NC_000002.11:g.29046613_29046614del, NC_000002.11:g.29046614del, NC_000002.11:g.29046614dup, NC_000002.11:g.29046613_29046614dup

Select item 149122181613.

rs1491221816 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:28829943 (GRCh38)
2:29052809 (GRCh37)
Canonical SPDI:: NC_000002.12:28829942:CA:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.28829943_28829944del, NC_000002.11:g.29052809_29052810del

Select item 149121240414.

rs1491212404 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:28817851 (GRCh38)
2:29040717 (GRCh37)
Canonical SPDI:: NC_000002.12:28817850:CA:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
-=0.00031/8 (TOMMO)
HGVS:: NC_000002.12:g.28817851_28817852del, NC_000002.11:g.29040717_29040718del

Select item 149116598115.

rs1491165981 has merged into rs1016145776 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:28821186 (GRCh38)
2:29044052 (GRCh37)
Canonical SPDI:: NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:28821178:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.28821186_28821190del, NC_000002.12:g.28821188_28821190del, NC_000002.12:g.28821189_28821190del, NC_000002.12:g.28821190del, NC_000002.12:g.28821190dup, NC_000002.12:g.28821189_28821190dup, NC_000002.12:g.28821188_28821190dup, NC_000002.12:g.28821187_28821190dup, NC_000002.12:g.28821186_28821190dup, NC_000002.12:g.28821185_28821190dup, NC_000002.12:g.28821190_28821191insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28821190_28821191insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28821190_28821191insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.28821190_28821191insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29044052_29044056del, NC_000002.11:g.29044054_29044056del, NC_000002.11:g.29044055_29044056del, NC_000002.11:g.29044056del, NC_000002.11:g.29044056dup, NC_000002.11:g.29044055_29044056dup, NC_000002.11:g.29044054_29044056dup, NC_000002.11:g.29044053_29044056dup, NC_000002.11:g.29044052_29044056dup, NC_000002.11:g.29044051_29044056dup, NC_000002.11:g.29044056_29044057insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29044056_29044057insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29044056_29044057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.29044056_29044057insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149115129316.

rs1491151293 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:28821190 (GRCh38)
2:29044057 (GRCh37)
Canonical SPDI:: NC_000002.12:28821190:C:CC
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000077/10 (GnomAD)
HGVS:: NC_000002.12:g.28821191dup, NC_000002.11:g.29044057dup

Select item 149113011817.

rs1491130118 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:28837764 (GRCh38)
2:29060630 (GRCh37)
Canonical SPDI:: NC_000002.12:28837763:TA:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000175/19 (GnomAD)
-=0.000708/12 (TOMMO)
HGVS:: NC_000002.12:g.28837764_28837765del, NC_000002.11:g.29060630_29060631del

Select item 149112213818.

rs1491122138 has merged into rs1487830730 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 2:28837765 (GRCh38)
2:29060631 (GRCh37)
Canonical SPDI:: NC_000002.12:28837764:AA:A,NC_000002.12:28837764:AA:AAA,NC_000002.12:28837764:AA:AAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00048/7 (ALFA)
AA=0.0006/10 (TOMMO)
AA=0.00164/3 (Korea1K)
HGVS:: NC_000002.12:g.28837766del, NC_000002.12:g.28837766dup, NC_000002.12:g.28837765_28837766dup, NC_000002.11:g.29060632del, NC_000002.11:g.29060632dup, NC_000002.11:g.29060631_29060632dup

Select item 149106791119.

rs1491067911 has merged into rs372056967 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:28818450 (GRCh38)
2:29041316 (GRCh37)
Canonical SPDI:: NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:28818440:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.28818450_28818461del, NC_000002.12:g.28818451_28818461del, NC_000002.12:g.28818453_28818461del, NC_000002.12:g.28818454_28818461del, NC_000002.12:g.28818455_28818461del, NC_000002.12:g.28818456_28818461del, NC_000002.12:g.28818457_28818461del, NC_000002.12:g.28818458_28818461del, NC_000002.12:g.28818459_28818461del, NC_000002.12:g.28818460_28818461del, NC_000002.12:g.28818461del, NC_000002.12:g.28818461dup, NC_000002.12:g.28818460_28818461dup, NC_000002.12:g.28818459_28818461dup, NC_000002.12:g.28818456_28818461dup, NC_000002.12:g.28818454_28818461dup, NC_000002.11:g.29041316_29041327del, NC_000002.11:g.29041317_29041327del, NC_000002.11:g.29041319_29041327del, NC_000002.11:g.29041320_29041327del, NC_000002.11:g.29041321_29041327del, NC_000002.11:g.29041322_29041327del, NC_000002.11:g.29041323_29041327del, NC_000002.11:g.29041324_29041327del, NC_000002.11:g.29041325_29041327del, NC_000002.11:g.29041326_29041327del, NC_000002.11:g.29041327del, NC_000002.11:g.29041327dup, NC_000002.11:g.29041326_29041327dup, NC_000002.11:g.29041325_29041327dup, NC_000002.11:g.29041322_29041327dup, NC_000002.11:g.29041320_29041327dup

Select item 149104827520.

rs1491048275 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:28832857 (GRCh38)
2:29055723 (GRCh37)
Canonical SPDI:: NC_000002.12:28832856:TA:
Gene:: SPDYA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.28832857_28832858del, NC_000002.11:g.29055723_29055724del

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity