SNP Links for Gene (Select 83479) - SNP

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Select item 14915867261.

rs1491586726 has merged into rs34990634 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 1:200671684 (GRCh38)
1:200640812 (GRCh37)
Canonical SPDI:: NC_000001.11:200671674:TGTGTGTGTGTGT:TGTGTGTGT,NC_000001.11:200671674:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:200671674:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:200671674:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: DDX59 (Varview), DDX59-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
TG=0.187642/3145 (TOMMO)
TG=0.203057/372 (Korea1K)
TG=0.21028/45 (Vietnamese)
TG=0.352835/1767 (1000Genomes)
TG=0.456667/274 (NorthernSweden)
TG=0.473438/2121 (Estonian)
TG=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.200671676GT[4], NC_000001.11:g.200671676GT[5], NC_000001.11:g.200671676GT[7], NC_000001.11:g.200671676GT[8], NC_000001.10:g.200640804GT[4], NC_000001.10:g.200640804GT[5], NC_000001.10:g.200640804GT[7], NC_000001.10:g.200640804GT[8], NG_053192.1:g.3313CA[4], NG_053192.1:g.3313CA[5], NG_053192.1:g.3313CA[7], NG_053192.1:g.3313CA[8]

Select item 14915385732.

rs1491538573 has merged into rs71135375 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:200652018 (GRCh38)
1:200621146 (GRCh37)
Canonical SPDI:: NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200652007:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.200652018_200652028del, NC_000001.11:g.200652019_200652028del, NC_000001.11:g.200652020_200652028del, NC_000001.11:g.200652022_200652028del, NC_000001.11:g.200652024_200652028del, NC_000001.11:g.200652025_200652028del, NC_000001.11:g.200652026_200652028del, NC_000001.11:g.200652027_200652028del, NC_000001.11:g.200652028del, NC_000001.11:g.200652028dup, NC_000001.11:g.200652027_200652028dup, NC_000001.11:g.200652026_200652028dup, NC_000001.11:g.200652025_200652028dup, NC_000001.11:g.200652024_200652028dup, NC_000001.11:g.200652023_200652028dup, NC_000001.10:g.200621146_200621156del, NC_000001.10:g.200621147_200621156del, NC_000001.10:g.200621148_200621156del, NC_000001.10:g.200621150_200621156del, NC_000001.10:g.200621152_200621156del, NC_000001.10:g.200621153_200621156del, NC_000001.10:g.200621154_200621156del, NC_000001.10:g.200621155_200621156del, NC_000001.10:g.200621156del, NC_000001.10:g.200621156dup, NC_000001.10:g.200621155_200621156dup, NC_000001.10:g.200621154_200621156dup, NC_000001.10:g.200621153_200621156dup, NC_000001.10:g.200621152_200621156dup, NC_000001.10:g.200621151_200621156dup, NG_053192.1:g.22981_22991del, NG_053192.1:g.22982_22991del, NG_053192.1:g.22983_22991del, NG_053192.1:g.22985_22991del, NG_053192.1:g.22987_22991del, NG_053192.1:g.22988_22991del, NG_053192.1:g.22989_22991del, NG_053192.1:g.22990_22991del, NG_053192.1:g.22991del, NG_053192.1:g.22991dup, NG_053192.1:g.22990_22991dup, NG_053192.1:g.22989_22991dup, NG_053192.1:g.22988_22991dup, NG_053192.1:g.22987_22991dup, NG_053192.1:g.22986_22991dup

Select item 14914671463.

rs1491467146 has merged into rs113134173 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 1:200648039 (GRCh38)
1:200617167 (GRCh37)
Canonical SPDI:: NC_000001.11:200648030:GGGGGGGGGG:GGGGGGGG,NC_000001.11:200648030:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:200648030:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:200648030:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: DDX59 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
-=0.02508/15 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000001.11:g.200648039_200648040del, NC_000001.11:g.200648040del, NC_000001.11:g.200648040dup, NC_000001.11:g.200648039_200648040dup, NC_000001.10:g.200617167_200617168del, NC_000001.10:g.200617168del, NC_000001.10:g.200617168dup, NC_000001.10:g.200617167_200617168dup, NG_053192.1:g.26967_26968del, NG_053192.1:g.26968del, NG_053192.1:g.26968dup, NG_053192.1:g.26967_26968dup

Select item 14913486054.

rs1491348605 has merged into rs10590500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 1:200652681 (GRCh38)
1:200621809 (GRCh37)
Canonical SPDI:: NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2039/1021 (1000Genomes)
HGVS:: NC_000001.11:g.200652681_200652687del, NC_000001.11:g.200652682_200652687del, NC_000001.11:g.200652683_200652687del, NC_000001.11:g.200652684_200652687del, NC_000001.11:g.200652685_200652687del, NC_000001.11:g.200652686_200652687del, NC_000001.11:g.200652687del, NC_000001.11:g.200652687dup, NC_000001.11:g.200652686_200652687dup, NC_000001.11:g.200652685_200652687dup, NC_000001.11:g.200652684_200652687dup, NC_000001.10:g.200621809_200621815del, NC_000001.10:g.200621810_200621815del, NC_000001.10:g.200621811_200621815del, NC_000001.10:g.200621812_200621815del, NC_000001.10:g.200621813_200621815del, NC_000001.10:g.200621814_200621815del, NC_000001.10:g.200621815del, NC_000001.10:g.200621815dup, NC_000001.10:g.200621814_200621815dup, NC_000001.10:g.200621813_200621815dup, NC_000001.10:g.200621812_200621815dup, NG_053192.1:g.22325_22331del, NG_053192.1:g.22326_22331del, NG_053192.1:g.22327_22331del, NG_053192.1:g.22328_22331del, NG_053192.1:g.22329_22331del, NG_053192.1:g.22330_22331del, NG_053192.1:g.22331del, NG_053192.1:g.22331dup, NG_053192.1:g.22330_22331dup, NG_053192.1:g.22329_22331dup, NG_053192.1:g.22328_22331dup

Select item 14913287825.

rs1491328782 has merged into rs5780032 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 1:200641409 (GRCh38)
1:200610537 (GRCh37)
Canonical SPDI:: NC_000001.11:200641397:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:200641397:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:200641397:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:200641397:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.0007/3 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.03/18 (NorthernSweden)
A=0.175/7 (GENOME_DK)
A=0.2989/1497 (1000Genomes)
HGVS:: NC_000001.11:g.200641409_200641411del, NC_000001.11:g.200641410_200641411del, NC_000001.11:g.200641411del, NC_000001.11:g.200641411dup, NC_000001.10:g.200610537_200610539del, NC_000001.10:g.200610538_200610539del, NC_000001.10:g.200610539del, NC_000001.10:g.200610539dup, NG_053192.1:g.33599_33601del, NG_053192.1:g.33600_33601del, NG_053192.1:g.33601del, NG_053192.1:g.33601dup

Select item 14913057096.

rs1491305709 has merged into rs59213524 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:200663781 (GRCh38)
1:200632909 (GRCh37)
Canonical SPDI:: NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0.00036/5 (ALFA)
-=0.05397/208 (ALSPAC)
-=0.05987/222 (TWINSUK)
HGVS:: NC_000001.11:g.200663781_200663783del, NC_000001.11:g.200663782_200663783del, NC_000001.11:g.200663783del, NC_000001.11:g.200663783dup, NC_000001.11:g.200663782_200663783dup, NC_000001.11:g.200663781_200663783dup, NC_000001.11:g.200663777_200663783dup, NC_000001.11:g.200663770_200663783dup, NC_000001.10:g.200632909_200632911del, NC_000001.10:g.200632910_200632911del, NC_000001.10:g.200632911del, NC_000001.10:g.200632911dup, NC_000001.10:g.200632910_200632911dup, NC_000001.10:g.200632909_200632911dup, NC_000001.10:g.200632905_200632911dup, NC_000001.10:g.200632898_200632911dup, NG_053192.1:g.11229_11231del, NG_053192.1:g.11230_11231del, NG_053192.1:g.11231del, NG_053192.1:g.11231dup, NG_053192.1:g.11230_11231dup, NG_053192.1:g.11229_11231dup, NG_053192.1:g.11225_11231dup, NG_053192.1:g.11218_11231dup

Select item 14912588347.

rs1491258834 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:200652007 (GRCh38)
1:200621135 (GRCh37)
Canonical SPDI:: NC_000001.11:200652006:CA:
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00067/19 (TOMMO)
HGVS:: NC_000001.11:g.200652007_200652008del, NC_000001.10:g.200621135_200621136del, NG_053192.1:g.22991_22992del

Select item 14912093138.

rs1491209313 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:200663767 (GRCh38)
1:200632895 (GRCh37)
Canonical SPDI:: NC_000001.11:200663766:TA:
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.200663767_200663768del, NC_000001.10:g.200632895_200632896del, NG_053192.1:g.11231_11232del

Select item 14912030959.

rs1491203095 has merged into rs1311653171 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:200657249 (GRCh38)
1:200626377 (GRCh37)
Canonical SPDI:: NC_000001.11:200657247:ACA:A
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.04502/534 (ALFA)
-=0.00611/99 (TOMMO)
-=0.02132/353 (GnomAD)
HGVS:: NC_000001.11:g.200657249_200657250del, NC_000001.10:g.200626377_200626378del, NG_053192.1:g.17750_17751del

Select item 149119152210.

rs1491191522 has merged into rs60657099 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:200649642 (GRCh38)
1:200618770 (GRCh37)
Canonical SPDI:: NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: DDX59 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.200649642_200649643del, NC_000001.11:g.200649643del, NC_000001.11:g.200649643dup, NC_000001.11:g.200649642_200649643dup, NC_000001.11:g.200649641_200649643dup, NC_000001.11:g.200649637_200649643dup, NC_000001.11:g.200649636_200649643dup, NC_000001.10:g.200618770_200618771del, NC_000001.10:g.200618771del, NC_000001.10:g.200618771dup, NC_000001.10:g.200618770_200618771dup, NC_000001.10:g.200618769_200618771dup, NC_000001.10:g.200618765_200618771dup, NC_000001.10:g.200618764_200618771dup, NG_053192.1:g.25369_25370del, NG_053192.1:g.25370del, NG_053192.1:g.25370dup, NG_053192.1:g.25369_25370dup, NG_053192.1:g.25368_25370dup, NG_053192.1:g.25364_25370dup, NG_053192.1:g.25363_25370dup

Select item 149117989111.

rs1491179891 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:200652667 (GRCh38)
1:200621795 (GRCh37)
Canonical SPDI:: NC_000001.11:200652666:AT:
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00012/2 (TOMMO)
HGVS:: NC_000001.11:g.200652667_200652668del, NC_000001.10:g.200621795_200621796del, NG_053192.1:g.22331_22332del

Select item 149113855812.

rs1491138558 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCA [Show Flanks]
Chromosome:: 1:200664386 (GRCh38)
1:200633515 (GRCh37)
Canonical SPDI:: NC_000001.11:200664386:CAGTCA:CAGTCAGTCA
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAGTCAGTCA=0./0 (ALFA)
CAGT=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.200664389_200664392dup, NC_000001.10:g.200633517_200633520dup, NG_053192.1:g.10609_10612dup

Select item 149110709013.

rs1491107090 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 1:200649629 (GRCh38)
1:200618758 (GRCh37)
Canonical SPDI:: NC_000001.11:200649629::C,NC_000001.11:200649629::G
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00515/33 (1000Genomes)
C=0.05093/44 (GnomAD)
HGVS:: NC_000001.11:g.200649629_200649630insC, NC_000001.11:g.200649629_200649630insG, NC_000001.10:g.200618757_200618758insC, NC_000001.10:g.200618757_200618758insG, NG_053192.1:g.25369_25370insG, NG_053192.1:g.25369_25370insC

Select item 149098263314.

rs1490982633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:200659545 (GRCh38)
1:200628673 (GRCh37)
Canonical SPDI:: NC_000001.11:200659544:G:A
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.200659545G>A, NC_000001.10:g.200628673G>A, NG_053192.1:g.15454C>T

Select item 149093164015.

rs1490931640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:200658447 (GRCh38)
1:200627575 (GRCh37)
Canonical SPDI:: NC_000001.11:200658446:T:C
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.200658447T>C, NC_000001.10:g.200627575T>C, NG_053192.1:g.16552A>G

Select item 149059423516.

rs1490594235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:200650401 (GRCh38)
1:200619529 (GRCh37)
Canonical SPDI:: NC_000001.11:200650400:A:T
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.200650401A>T, NC_000001.10:g.200619529A>T, NG_053192.1:g.24598T>A

Select item 149046001117.

rs1490460011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:200644194 (GRCh38)
1:200613322 (GRCh37)
Canonical SPDI:: NC_000001.11:200644193:A:G
Gene:: DDX59 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.200644194A>G, NC_000001.10:g.200613322A>G, NG_053192.1:g.30805T>C, NM_001031725.6:c.*60T>C, NM_001031725.5:c.*60T>C, NM_001031725.4:c.*60T>C, NM_001349799.3:c.*60T>C, NM_001349799.2:c.*60T>C, NM_001349799.1:c.*60T>C, NM_001349800.3:c.*60T>C, NM_001349800.2:c.*60T>C, NM_001349800.1:c.*60T>C, NM_001349801.3:c.*60T>C, NM_001349801.2:c.*60T>C, NM_001349801.1:c.*60T>C, NM_001349803.3:c.*60T>C, NM_001349803.2:c.*60T>C, NM_001349803.1:c.*60T>C, NM_001349804.2:c.*60T>C, NM_001349804.1:c.*60T>C, NM_001320182.1:c.*60T>C, XM_017002432.3:c.*60T>C, XM_017002432.2:c.*60T>C, XM_017002432.1:c.*60T>C, XM_047431458.1:c.*60T>C, XM_047431459.1:c.*60T>C, XM_047431466.1:c.*60T>C, XM_047431468.1:c.*60T>C

Select item 149039104218.

rs1490391042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:200647969 (GRCh38)
1:200617097 (GRCh37)
Canonical SPDI:: NC_000001.11:200647968:C:A
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0007/3 (ALFA)
HGVS:: NC_000001.11:g.200647969C>A, NC_000001.10:g.200617097C>A, NG_053192.1:g.27030G>T

Select item 149029227519.

rs1490292275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:200659132 (GRCh38)
1:200628260 (GRCh37)
Canonical SPDI:: NC_000001.11:200659131:A:G
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.200659132A>G, NC_000001.10:g.200628260A>G, NG_053192.1:g.15867T>C

Select item 149025491920.

rs1490254919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:200646550 (GRCh38)
1:200615678 (GRCh37)
Canonical SPDI:: NC_000001.11:200646549:A:G
Gene:: DDX59 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.200646550A>G, NC_000001.10:g.200615678A>G, NG_053192.1:g.28449T>C

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