SNP Links for Gene (Select 23541) - SNP

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Select item 14915769031.

rs1491576903 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14914974992.

rs1491497499 has merged into rs71328849 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 22:30405077 (GRCh38)
22:30801066 (GRCh37)
Canonical SPDI:: NC_000022.11:30405068:AAAAAAAAAAA:AAAAAAAA,NC_000022.11:30405068:AAAAAAAAAAA:AAAAAAAAA,NC_000022.11:30405068:AAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:30405068:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30405068:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.05/2 (GENOME_DK)
A=0.16254/814 (1000Genomes)
A=0.16443/98 (NorthernSweden)
A=0.208738/774 (TWINSUK)
A=0.221588/854 (ALSPAC)
A=0.249499/249 (GoNL)
HGVS:: NC_000022.11:g.30405077_30405079del, NC_000022.11:g.30405078_30405079del, NC_000022.11:g.30405079del, NC_000022.11:g.30405079dup, NC_000022.11:g.30405078_30405079dup, NC_000022.10:g.30801066_30801068del, NC_000022.10:g.30801067_30801068del, NC_000022.10:g.30801068del, NC_000022.10:g.30801068dup, NC_000022.10:g.30801067_30801068dup

Select item 14914810913.

rs1491481091 has merged into rs1185861063 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:30400906 (GRCh38)
22:30796895 (GRCh37)
Canonical SPDI:: NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30400894:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.004/2 (NorthernSweden)
HGVS:: NC_000022.11:g.30400906_30400923del, NC_000022.11:g.30400907_30400923del, NC_000022.11:g.30400908_30400923del, NC_000022.11:g.30400909_30400923del, NC_000022.11:g.30400910_30400923del, NC_000022.11:g.30400911_30400923del, NC_000022.11:g.30400912_30400923del, NC_000022.11:g.30400913_30400923del, NC_000022.11:g.30400914_30400923del, NC_000022.11:g.30400915_30400923del, NC_000022.11:g.30400916_30400923del, NC_000022.11:g.30400917_30400923del, NC_000022.11:g.30400918_30400923del, NC_000022.11:g.30400919_30400923del, NC_000022.11:g.30400920_30400923del, NC_000022.11:g.30400921_30400923del, NC_000022.11:g.30400922_30400923del, NC_000022.11:g.30400923del, NC_000022.11:g.30400923dup, NC_000022.11:g.30400922_30400923dup, NC_000022.11:g.30400921_30400923dup, NC_000022.11:g.30400920_30400923dup, NC_000022.11:g.30400919_30400923dup, NC_000022.11:g.30400918_30400923dup, NC_000022.11:g.30400916_30400923dup, NC_000022.11:g.30400923_30400924insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30796895_30796912del, NC_000022.10:g.30796896_30796912del, NC_000022.10:g.30796897_30796912del, NC_000022.10:g.30796898_30796912del, NC_000022.10:g.30796899_30796912del, NC_000022.10:g.30796900_30796912del, NC_000022.10:g.30796901_30796912del, NC_000022.10:g.30796902_30796912del, NC_000022.10:g.30796903_30796912del, NC_000022.10:g.30796904_30796912del, NC_000022.10:g.30796905_30796912del, NC_000022.10:g.30796906_30796912del, NC_000022.10:g.30796907_30796912del, NC_000022.10:g.30796908_30796912del, NC_000022.10:g.30796909_30796912del, NC_000022.10:g.30796910_30796912del, NC_000022.10:g.30796911_30796912del, NC_000022.10:g.30796912del, NC_000022.10:g.30796912dup, NC_000022.10:g.30796911_30796912dup, NC_000022.10:g.30796910_30796912dup, NC_000022.10:g.30796909_30796912dup, NC_000022.10:g.30796908_30796912dup, NC_000022.10:g.30796907_30796912dup, NC_000022.10:g.30796905_30796912dup, NC_000022.10:g.30796912_30796913insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914703354.

rs1491470335 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:30404009 (GRCh38)
22:30799998 (GRCh37)
Canonical SPDI:: NC_000022.11:30404008:CA:
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00325/82 (TOMMO)
HGVS:: NC_000022.11:g.30404009_30404010del, NC_000022.10:g.30799998_30799999del

Select item 14913921425.

rs1491392142 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:30400894 (GRCh38)
22:30796883 (GRCh37)
Canonical SPDI:: NC_000022.11:30400893:CA:
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000022.11:g.30400894_30400895del, NC_000022.10:g.30796883_30796884del

Select item 14913404646.

rs1491340464 has merged into rs60817387 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:30399524 (GRCh38)
22:30795513 (GRCh37)
Canonical SPDI:: NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.30399524_30399537del, NC_000022.11:g.30399525_30399537del, NC_000022.11:g.30399526_30399537del, NC_000022.11:g.30399527_30399537del, NC_000022.11:g.30399528_30399537del, NC_000022.11:g.30399529_30399537del, NC_000022.11:g.30399530_30399537del, NC_000022.11:g.30399531_30399537del, NC_000022.11:g.30399532_30399537del, NC_000022.11:g.30399533_30399537del, NC_000022.11:g.30399534_30399537del, NC_000022.11:g.30399535_30399537del, NC_000022.11:g.30399536_30399537del, NC_000022.11:g.30399537del, NC_000022.11:g.30399537dup, NC_000022.11:g.30399536_30399537dup, NC_000022.11:g.30399535_30399537dup, NC_000022.11:g.30399534_30399537dup, NC_000022.11:g.30399533_30399537dup, NC_000022.11:g.30399532_30399537dup, NC_000022.11:g.30399531_30399537dup, NC_000022.11:g.30399530_30399537dup, NC_000022.11:g.30399529_30399537dup, NC_000022.11:g.30399528_30399537dup, NC_000022.11:g.30399527_30399537dup, NC_000022.11:g.30399526_30399537dup, NC_000022.11:g.30399525_30399537dup, NC_000022.11:g.30399524_30399537dup, NC_000022.11:g.30399523_30399537dup, NC_000022.11:g.30399522_30399537dup, NC_000022.11:g.30399537_30399538insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30795513_30795526del, NC_000022.10:g.30795514_30795526del, NC_000022.10:g.30795515_30795526del, NC_000022.10:g.30795516_30795526del, NC_000022.10:g.30795517_30795526del, NC_000022.10:g.30795518_30795526del, NC_000022.10:g.30795519_30795526del, NC_000022.10:g.30795520_30795526del, NC_000022.10:g.30795521_30795526del, NC_000022.10:g.30795522_30795526del, NC_000022.10:g.30795523_30795526del, NC_000022.10:g.30795524_30795526del, NC_000022.10:g.30795525_30795526del, NC_000022.10:g.30795526del, NC_000022.10:g.30795526dup, NC_000022.10:g.30795525_30795526dup, NC_000022.10:g.30795524_30795526dup, NC_000022.10:g.30795523_30795526dup, NC_000022.10:g.30795522_30795526dup, NC_000022.10:g.30795521_30795526dup, NC_000022.10:g.30795520_30795526dup, NC_000022.10:g.30795519_30795526dup, NC_000022.10:g.30795518_30795526dup, NC_000022.10:g.30795517_30795526dup, NC_000022.10:g.30795516_30795526dup, NC_000022.10:g.30795515_30795526dup, NC_000022.10:g.30795514_30795526dup, NC_000022.10:g.30795513_30795526dup, NC_000022.10:g.30795512_30795526dup, NC_000022.10:g.30795511_30795526dup, NC_000022.10:g.30795526_30795527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913159747.

rs1491315974 has merged into rs67366822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:30404015 (GRCh38)
22:30800004 (GRCh37)
Canonical SPDI:: NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404009:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30404015_30404029del, NC_000022.11:g.30404018_30404029del, NC_000022.11:g.30404021_30404029del, NC_000022.11:g.30404023_30404029del, NC_000022.11:g.30404026_30404029del, NC_000022.11:g.30404027_30404029del, NC_000022.11:g.30404028_30404029del, NC_000022.11:g.30404029del, NC_000022.11:g.30404029dup, NC_000022.11:g.30404028_30404029dup, NC_000022.11:g.30404027_30404029dup, NC_000022.11:g.30404026_30404029dup, NC_000022.11:g.30404025_30404029dup, NC_000022.11:g.30404024_30404029dup, NC_000022.11:g.30404023_30404029dup, NC_000022.11:g.30404022_30404029dup, NC_000022.11:g.30404021_30404029dup, NC_000022.11:g.30404020_30404029dup, NC_000022.11:g.30404019_30404029dup, NC_000022.11:g.30404018_30404029dup, NC_000022.11:g.30404017_30404029dup, NC_000022.11:g.30404016_30404029dup, NC_000022.11:g.30404015_30404029dup, NC_000022.11:g.30404014_30404029dup, NC_000022.11:g.30404013_30404029dup, NC_000022.11:g.30404012_30404029dup, NC_000022.11:g.30404011_30404029dup, NC_000022.11:g.30404010_30404029dup, NC_000022.11:g.30404029_30404030insAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.30404029_30404030insAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.30404029_30404030insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.30404029_30404030insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.30404029_30404030insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800004_30800018del, NC_000022.10:g.30800007_30800018del, NC_000022.10:g.30800010_30800018del, NC_000022.10:g.30800012_30800018del, NC_000022.10:g.30800015_30800018del, NC_000022.10:g.30800016_30800018del, NC_000022.10:g.30800017_30800018del, NC_000022.10:g.30800018del, NC_000022.10:g.30800018dup, NC_000022.10:g.30800017_30800018dup, NC_000022.10:g.30800016_30800018dup, NC_000022.10:g.30800015_30800018dup, NC_000022.10:g.30800014_30800018dup, NC_000022.10:g.30800013_30800018dup, NC_000022.10:g.30800012_30800018dup, NC_000022.10:g.30800011_30800018dup, NC_000022.10:g.30800010_30800018dup, NC_000022.10:g.30800009_30800018dup, NC_000022.10:g.30800008_30800018dup, NC_000022.10:g.30800007_30800018dup, NC_000022.10:g.30800006_30800018dup, NC_000022.10:g.30800005_30800018dup, NC_000022.10:g.30800004_30800018dup, NC_000022.10:g.30800003_30800018dup, NC_000022.10:g.30800002_30800018dup, NC_000022.10:g.30800001_30800018dup, NC_000022.10:g.30800000_30800018dup, NC_000022.10:g.30799999_30800018dup, NC_000022.10:g.30800018_30800019insAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800018_30800019insAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800018_30800019insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800018_30800019insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800018_30800019insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912466028.

rs1491246602 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:30399513 (GRCh38)
22:30795502 (GRCh37)
Canonical SPDI:: NC_000022.11:30399512:CA:
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00127/32 (TOMMO)
HGVS:: NC_000022.11:g.30399513_30399514del, NC_000022.10:g.30795502_30795503del

Select item 14912308329.

rs1491230832 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:30412371 (GRCh38)
22:30808360 (GRCh37)
Canonical SPDI:: NC_000022.11:30412370:CT:
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.30412371_30412372del, NC_000022.10:g.30808360_30808361del

Select item 149121788710.

rs1491217887 has merged into rs5844905 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:30404033 (GRCh38)
22:30800022 (GRCh37)
Canonical SPDI:: NC_000022.11:30404030:AAAAAAAAAAAAA:AA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30404030:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.30404033_30404043del, NC_000022.11:g.30404037_30404043del, NC_000022.11:g.30404041_30404043del, NC_000022.11:g.30404042_30404043del, NC_000022.11:g.30404043del, NC_000022.11:g.30404043dup, NC_000022.11:g.30404042_30404043dup, NC_000022.11:g.30404041_30404043dup, NC_000022.11:g.30404040_30404043dup, NC_000022.11:g.30404036_30404043dup, NC_000022.11:g.30404033_30404043dup, NC_000022.11:g.30404043_30404044insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.30404031_30404043A[19]GAAAAAAAAAAAAAAA[1], NC_000022.10:g.30800022_30800032del, NC_000022.10:g.30800026_30800032del, NC_000022.10:g.30800030_30800032del, NC_000022.10:g.30800031_30800032del, NC_000022.10:g.30800032del, NC_000022.10:g.30800032dup, NC_000022.10:g.30800031_30800032dup, NC_000022.10:g.30800030_30800032dup, NC_000022.10:g.30800029_30800032dup, NC_000022.10:g.30800025_30800032dup, NC_000022.10:g.30800022_30800032dup, NC_000022.10:g.30800032_30800033insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30800020_30800032A[19]GAAAAAAAAAAAAAAA[1]

Select item 149119433211.

rs1491194332 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:30411742 (GRCh38)
22:30807731 (GRCh37)
Canonical SPDI:: NC_000022.11:30411741:CA:
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00278/33 (ALFA)
HGVS:: NC_000022.11:g.30411742_30411743del, NC_000022.10:g.30807731_30807732del

Select item 149097689912.

rs1490976899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30418522 (GRCh38)
22:30814511 (GRCh37)
Canonical SPDI:: NC_000022.11:30418521:T:C
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000022.11:g.30418522T>C, NC_000022.10:g.30814511T>C

Select item 149072750913.

rs1490727509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTGCCC [Show Flanks]
Chromosome:: 22:30397658 (GRCh38)
22:30793648 (GRCh37)
Canonical SPDI:: NC_000022.11:30397658:CCCTGCCC:CCCTGCCCCCTGCCC
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCTGCCCCCTGCCC=0.000071/1 (ALFA)
CCCTGCC=0.000004/1 (TOPMED)
CCCTGCC=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30397660_30397666dup, NC_000022.10:g.30793649_30793655dup

Select item 149070248714.

rs1490702487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30407122 (GRCh38)
22:30803111 (GRCh37)
Canonical SPDI:: NC_000022.11:30407121:A:G
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.30407122A>G, NC_000022.10:g.30803111A>G, NM_012429.5:c.202A>G, NM_012429.4:c.202A>G, NM_012429.3:c.202A>G, NM_033382.3:c.202A>G, NM_033382.2:c.202A>G, NM_001291932.2:c.40A>G, NM_001291932.1:c.40A>G, NP_036561.1:p.Ile68Val, NP_203740.1:p.Ile68Val, NP_001278861.1:p.Ile14Val

Select item 149069431915.

rs1490694319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30423530 (GRCh38)
22:30819519 (GRCh37)
Canonical SPDI:: NC_000022.11:30423529:G:C
Gene:: SEC14L2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30423530G>C, NC_000022.10:g.30819519G>C, NM_012429.5:c.*1123G>C, NM_012429.4:c.*1123G>C, NM_012429.3:c.*1123G>C, NM_001204204.3:c.*1123G>C, NM_001204204.2:c.*1123G>C, NM_001204204.1:c.*1123G>C, NM_001291932.2:c.*1123G>C, NM_001291932.1:c.*1123G>C

Select item 149056463616.

rs1490564636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30396721 (GRCh38)
22:30792710 (GRCh37)
Canonical SPDI:: NC_000022.11:30396720:T:C
Gene:: SEC14L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30396721T>C, NC_000022.10:g.30792710T>C

Select item 149055836017.

rs1490558360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:30405424 (GRCh38)
22:30801413 (GRCh37)
Canonical SPDI:: NC_000022.11:30405423:G:C
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.30405424G>C, NC_000022.10:g.30801413G>C

Select item 149053679718.

rs1490536797 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 22:30421902 (GRCh38)
22:30817891 (GRCh37)
Canonical SPDI:: NC_000022.11:30421899:TTGTT:TT
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30421902_30421904del, NC_000022.10:g.30817891_30817893del

Select item 149038446919.

rs1490384469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:30398806 (GRCh38)
22:30794796 (GRCh37)
Canonical SPDI:: NC_000022.11:30398806:A:AA
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30398807dup, NC_000022.10:g.30794796dup

Select item 149022013020.

rs1490220130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:30398372 (GRCh38)
22:30794361 (GRCh37)
Canonical SPDI:: NC_000022.11:30398371:C:A
Gene:: SEC14L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30398372C>A, NC_000022.10:g.30794361C>A

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