SNP Links for Nucleotide (Select 295821218) - SNP

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Select item 14915618461.

rs1491561846 has merged into rs56129490 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:49918905 (GRCh38)
19:50422162 (GRCh37)
Canonical SPDI:: NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
GGG=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.49918905_49918908del, NC_000019.10:g.49918906_49918908del, NC_000019.10:g.49918907_49918908del, NC_000019.10:g.49918908del, NC_000019.10:g.49918908dup, NC_000019.10:g.49918907_49918908dup, NC_000019.10:g.49918906_49918908dup, NC_000019.10:g.49918905_49918908dup, NC_000019.10:g.49918904_49918908dup, NC_000019.10:g.49918903_49918908dup, NC_000019.10:g.49918902_49918908dup, NC_000019.10:g.49918901_49918908dup, NC_000019.10:g.49918900_49918908dup, NC_000019.10:g.49918899_49918908dup, NC_000019.10:g.49918898_49918908dup, NC_000019.10:g.49918897_49918908dup, NC_000019.10:g.49918896_49918908dup, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGG, NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.50422162_50422165del, NC_000019.9:g.50422163_50422165del, NC_000019.9:g.50422164_50422165del, NC_000019.9:g.50422165del, NC_000019.9:g.50422165dup, NC_000019.9:g.50422164_50422165dup, NC_000019.9:g.50422163_50422165dup, NC_000019.9:g.50422162_50422165dup, NC_000019.9:g.50422161_50422165dup, NC_000019.9:g.50422160_50422165dup, NC_000019.9:g.50422159_50422165dup, NC_000019.9:g.50422158_50422165dup, NC_000019.9:g.50422157_50422165dup, NC_000019.9:g.50422156_50422165dup, NC_000019.9:g.50422155_50422165dup, NC_000019.9:g.50422154_50422165dup, NC_000019.9:g.50422153_50422165dup, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGGGG, NG_021170.1:g.15607_15610del, NG_021170.1:g.15608_15610del, NG_021170.1:g.15609_15610del, NG_021170.1:g.15610del, NG_021170.1:g.15610dup, NG_021170.1:g.15609_15610dup, NG_021170.1:g.15608_15610dup, NG_021170.1:g.15607_15610dup, NG_021170.1:g.15606_15610dup, NG_021170.1:g.15605_15610dup, NG_021170.1:g.15604_15610dup, NG_021170.1:g.15603_15610dup, NG_021170.1:g.15602_15610dup, NG_021170.1:g.15601_15610dup, NG_021170.1:g.15600_15610dup, NG_021170.1:g.15599_15610dup, NG_021170.1:g.15598_15610dup, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCC, NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCCCC, NG_023448.1:g.15833_15836del, NG_023448.1:g.15834_15836del, NG_023448.1:g.15835_15836del, NG_023448.1:g.15836del, NG_023448.1:g.15836dup, NG_023448.1:g.15835_15836dup, NG_023448.1:g.15834_15836dup, NG_023448.1:g.15833_15836dup, NG_023448.1:g.15832_15836dup, NG_023448.1:g.15831_15836dup, NG_023448.1:g.15830_15836dup, NG_023448.1:g.15829_15836dup, NG_023448.1:g.15828_15836dup, NG_023448.1:g.15827_15836dup, NG_023448.1:g.15826_15836dup, NG_023448.1:g.15825_15836dup, NG_023448.1:g.15824_15836dup, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCC, NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCCCC

Select item 14915524122.

rs1491552412 has merged into rs869206315 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>CC,TT [Show Flanks]
Chromosome:: 19:49930468 (GRCh38)
19:50433725 (GRCh37)
Canonical SPDI:: NC_000019.10:49930467:C:CC,NC_000019.10:49930467:C:TT
Gene:: ATF5 (Varview), NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.49930468dup, NC_000019.10:g.49930468delinsTT, NC_000019.9:g.50433725dup, NC_000019.9:g.50433725delinsTT, NG_021170.1:g.4038dup, NG_021170.1:g.4038delinsAA, NG_023448.1:g.4264dup, NG_023448.1:g.4264delinsAA

Select item 14915362213.

rs1491536221 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:49890937 (GRCh38)
19:50394195 (GRCh37)
Canonical SPDI:: NC_000019.10:49890937::T
Gene:: IL4I1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.49890937_49890938insT, NC_000019.9:g.50394194_50394195insT, NG_021170.1:g.43568_43569insA

Select item 14914059264.

rs1491405926 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:49890464 (GRCh38)
19:50393721 (GRCh37)
Canonical SPDI:: NC_000019.10:49890460:GAGAG:GAG
Gene:: IL4I1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000009/1 (ExAC)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49890462AG[1], NC_000019.9:g.50393719AG[1], NG_021170.1:g.44042TC[1], NM_172374.3:c.978_979del, NM_172374.2:c.978_979del, NM_001258018.2:c.978_979del, NM_001258018.1:c.978_979del, NR_047577.2:n.1539TC[1], NR_047577.1:n.1574TC[1], NM_001258017.2:c.978_979del, NM_001258017.1:c.978_979del, NM_152899.2:c.912_913del, NM_152899.1:c.912_913del, NM_001385639.1:c.801_802del, NP_758962.1:p.Pro328fs, NP_001244947.1:p.Pro328fs, NP_001244946.1:p.Pro328fs, NP_690863.1:p.Pro306fs, NP_001372568.1:p.Pro269fs

Select item 14913907025.

rs1491390702 has merged into rs530372497 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:49914737 (GRCh38)
19:50417994 (GRCh37)
Canonical SPDI:: NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49914726:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.49914737_49914757del, NC_000019.10:g.49914738_49914757del, NC_000019.10:g.49914739_49914757del, NC_000019.10:g.49914740_49914757del, NC_000019.10:g.49914741_49914757del, NC_000019.10:g.49914742_49914757del, NC_000019.10:g.49914743_49914757del, NC_000019.10:g.49914744_49914757del, NC_000019.10:g.49914745_49914757del, NC_000019.10:g.49914746_49914757del, NC_000019.10:g.49914747_49914757del, NC_000019.10:g.49914748_49914757del, NC_000019.10:g.49914749_49914757del, NC_000019.10:g.49914750_49914757del, NC_000019.10:g.49914751_49914757del, NC_000019.10:g.49914752_49914757del, NC_000019.10:g.49914753_49914757del, NC_000019.10:g.49914754_49914757del, NC_000019.10:g.49914755_49914757del, NC_000019.10:g.49914756_49914757del, NC_000019.10:g.49914757del, NC_000019.10:g.49914757dup, NC_000019.10:g.49914756_49914757dup, NC_000019.10:g.49914755_49914757dup, NC_000019.10:g.49914754_49914757dup, NC_000019.10:g.49914753_49914757dup, NC_000019.10:g.49914752_49914757dup, NC_000019.10:g.49914751_49914757dup, NC_000019.10:g.49914750_49914757dup, NC_000019.10:g.49914749_49914757dup, NC_000019.10:g.49914748_49914757dup, NC_000019.10:g.49914747_49914757dup, NC_000019.10:g.49914746_49914757dup, NC_000019.10:g.49914745_49914757dup, NC_000019.10:g.49914744_49914757dup, NC_000019.10:g.49914743_49914757dup, NC_000019.10:g.49914742_49914757dup, NC_000019.10:g.49914741_49914757dup, NC_000019.10:g.49914740_49914757dup, NC_000019.10:g.49914739_49914757dup, NC_000019.10:g.49914738_49914757dup, NC_000019.10:g.49914737_49914757dup, NC_000019.10:g.49914736_49914757dup, NC_000019.10:g.49914735_49914757dup, NC_000019.10:g.49914734_49914757dup, NC_000019.10:g.49914733_49914757dup, NC_000019.10:g.49914757_49914758insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50417994_50418014del, NC_000019.9:g.50417995_50418014del, NC_000019.9:g.50417996_50418014del, NC_000019.9:g.50417997_50418014del, NC_000019.9:g.50417998_50418014del, NC_000019.9:g.50417999_50418014del, NC_000019.9:g.50418000_50418014del, NC_000019.9:g.50418001_50418014del, NC_000019.9:g.50418002_50418014del, NC_000019.9:g.50418003_50418014del, NC_000019.9:g.50418004_50418014del, NC_000019.9:g.50418005_50418014del, NC_000019.9:g.50418006_50418014del, NC_000019.9:g.50418007_50418014del, NC_000019.9:g.50418008_50418014del, NC_000019.9:g.50418009_50418014del, NC_000019.9:g.50418010_50418014del, NC_000019.9:g.50418011_50418014del, NC_000019.9:g.50418012_50418014del, NC_000019.9:g.50418013_50418014del, NC_000019.9:g.50418014del, NC_000019.9:g.50418014dup, NC_000019.9:g.50418013_50418014dup, NC_000019.9:g.50418012_50418014dup, NC_000019.9:g.50418011_50418014dup, NC_000019.9:g.50418010_50418014dup, NC_000019.9:g.50418009_50418014dup, NC_000019.9:g.50418008_50418014dup, NC_000019.9:g.50418007_50418014dup, NC_000019.9:g.50418006_50418014dup, NC_000019.9:g.50418005_50418014dup, NC_000019.9:g.50418004_50418014dup, NC_000019.9:g.50418003_50418014dup, NC_000019.9:g.50418002_50418014dup, NC_000019.9:g.50418001_50418014dup, NC_000019.9:g.50418000_50418014dup, NC_000019.9:g.50417999_50418014dup, NC_000019.9:g.50417998_50418014dup, NC_000019.9:g.50417997_50418014dup, NC_000019.9:g.50417996_50418014dup, NC_000019.9:g.50417995_50418014dup, NC_000019.9:g.50417994_50418014dup, NC_000019.9:g.50417993_50418014dup, NC_000019.9:g.50417992_50418014dup, NC_000019.9:g.50417991_50418014dup, NC_000019.9:g.50417990_50418014dup, NC_000019.9:g.50418014_50418015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021170.1:g.19759_19779del, NG_021170.1:g.19760_19779del, NG_021170.1:g.19761_19779del, NG_021170.1:g.19762_19779del, NG_021170.1:g.19763_19779del, NG_021170.1:g.19764_19779del, NG_021170.1:g.19765_19779del, NG_021170.1:g.19766_19779del, NG_021170.1:g.19767_19779del, NG_021170.1:g.19768_19779del, NG_021170.1:g.19769_19779del, NG_021170.1:g.19770_19779del, NG_021170.1:g.19771_19779del, NG_021170.1:g.19772_19779del, NG_021170.1:g.19773_19779del, NG_021170.1:g.19774_19779del, NG_021170.1:g.19775_19779del, NG_021170.1:g.19776_19779del, NG_021170.1:g.19777_19779del, NG_021170.1:g.19778_19779del, NG_021170.1:g.19779del, NG_021170.1:g.19779dup, NG_021170.1:g.19778_19779dup, NG_021170.1:g.19777_19779dup, NG_021170.1:g.19776_19779dup, NG_021170.1:g.19775_19779dup, NG_021170.1:g.19774_19779dup, NG_021170.1:g.19773_19779dup, NG_021170.1:g.19772_19779dup, NG_021170.1:g.19771_19779dup, NG_021170.1:g.19770_19779dup, NG_021170.1:g.19769_19779dup, NG_021170.1:g.19768_19779dup, NG_021170.1:g.19767_19779dup, NG_021170.1:g.19766_19779dup, NG_021170.1:g.19765_19779dup, NG_021170.1:g.19764_19779dup, NG_021170.1:g.19763_19779dup, NG_021170.1:g.19762_19779dup, NG_021170.1:g.19761_19779dup, NG_021170.1:g.19760_19779dup, NG_021170.1:g.19759_19779dup, NG_021170.1:g.19758_19779dup, NG_021170.1:g.19757_19779dup, NG_021170.1:g.19756_19779dup, NG_021170.1:g.19755_19779dup, NG_021170.1:g.19779_19780insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023448.1:g.19985_20005del, NG_023448.1:g.19986_20005del, NG_023448.1:g.19987_20005del, NG_023448.1:g.19988_20005del, NG_023448.1:g.19989_20005del, NG_023448.1:g.19990_20005del, NG_023448.1:g.19991_20005del, NG_023448.1:g.19992_20005del, NG_023448.1:g.19993_20005del, NG_023448.1:g.19994_20005del, NG_023448.1:g.19995_20005del, NG_023448.1:g.19996_20005del, NG_023448.1:g.19997_20005del, NG_023448.1:g.19998_20005del, NG_023448.1:g.19999_20005del, NG_023448.1:g.20000_20005del, NG_023448.1:g.20001_20005del, NG_023448.1:g.20002_20005del, NG_023448.1:g.20003_20005del, NG_023448.1:g.20004_20005del, NG_023448.1:g.20005del, NG_023448.1:g.20005dup, NG_023448.1:g.20004_20005dup, NG_023448.1:g.20003_20005dup, NG_023448.1:g.20002_20005dup, NG_023448.1:g.20001_20005dup, NG_023448.1:g.20000_20005dup, NG_023448.1:g.19999_20005dup, NG_023448.1:g.19998_20005dup, NG_023448.1:g.19997_20005dup, NG_023448.1:g.19996_20005dup, NG_023448.1:g.19995_20005dup, NG_023448.1:g.19994_20005dup, NG_023448.1:g.19993_20005dup, NG_023448.1:g.19992_20005dup, NG_023448.1:g.19991_20005dup, NG_023448.1:g.19990_20005dup, NG_023448.1:g.19989_20005dup, NG_023448.1:g.19988_20005dup, NG_023448.1:g.19987_20005dup, NG_023448.1:g.19986_20005dup, NG_023448.1:g.19985_20005dup, NG_023448.1:g.19984_20005dup, NG_023448.1:g.19983_20005dup, NG_023448.1:g.19982_20005dup, NG_023448.1:g.19981_20005dup, NG_023448.1:g.20005_20006insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913693826.

rs1491369382 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:49907538 (GRCh38)
19:50410796 (GRCh37)
Canonical SPDI:: NC_000019.10:49907538::A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.49907538_49907539insA, NC_000019.9:g.50410795_50410796insA, NG_021170.1:g.26967_26968insT, NG_023448.1:g.27193_27194insT, NM_016553.5:c.*700_*701insT, NM_016553.4:c.*700_*701insT, NM_012346.5:c.*700_*701insT, NM_012346.4:c.*700_*701insT, NM_153719.4:c.*700_*701insT, NM_153719.3:c.*700_*701insT, NM_153718.4:c.*700_*701insT, NM_153718.3:c.*700_*701insT, NM_001193357.2:c.*700_*701insT, NM_001193357.1:c.*700_*701insT

Select item 14913384557.

rs1491338455 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:49918895 (GRCh38)
19:50422152 (GRCh37)
Canonical SPDI:: NC_000019.10:49918894:TG:
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00598/3 (GnomAD)
HGVS:: NC_000019.10:g.49918895_49918896del, NC_000019.9:g.50422152_50422153del, NG_021170.1:g.15610_15611del, NG_023448.1:g.15836_15837del

Select item 14912878198.

rs1491287819 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:49934261 (GRCh38)
19:50437518 (GRCh37)
Canonical SPDI:: NC_000019.10:49934260:AG:
Gene:: ATF5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00447/53 (ALFA)
-=0.00005/1 (GnomAD)
HGVS:: NC_000019.10:g.49934261_49934262del, NC_000019.9:g.50437518_50437519del, NG_021170.1:g.244_245del, NG_023448.1:g.470_471del

Select item 14912273339.

rs1491227333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:49925465 (GRCh38)
19:50428722 (GRCh37)
Canonical SPDI:: NC_000019.10:49925463:ATA:A
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000044/6 (GnomAD)
HGVS:: NC_000019.10:g.49925465_49925466del, NC_000019.9:g.50428722_50428723del, NG_021170.1:g.9041_9042del, NG_023448.1:g.9267_9268del

Select item 149122436310.

rs1491224363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 19:49914727 (GRCh38)
19:50417985 (GRCh37)
Canonical SPDI:: NC_000019.10:49914727:TTT:TTTGTTT
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.49914730_49914731insGTTT, NC_000019.9:g.50417987_50417988insGTTT, NG_021170.1:g.19778_19779insCAAA, NG_023448.1:g.20004_20005insCAAA

Select item 149115014311.

rs1491150143 has merged into rs796990234 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:49934268 (GRCh38)
19:50437525 (GRCh37)
Canonical SPDI:: NC_000019.10:49934261:GGGGGGGGG:GGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:49934261:GGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: ATF5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.0099/4 (NorthernSweden)
HGVS:: NC_000019.10:g.49934268_49934270del, NC_000019.10:g.49934269_49934270del, NC_000019.10:g.49934270del, NC_000019.10:g.49934270dup, NC_000019.10:g.49934269_49934270dup, NC_000019.10:g.49934268_49934270dup, NC_000019.10:g.49934267_49934270dup, NC_000019.10:g.49934263_49934270dup, NC_000019.10:g.49934262_49934270dup, NC_000019.9:g.50437525_50437527del, NC_000019.9:g.50437526_50437527del, NC_000019.9:g.50437527del, NC_000019.9:g.50437527dup, NC_000019.9:g.50437526_50437527dup, NC_000019.9:g.50437525_50437527dup, NC_000019.9:g.50437524_50437527dup, NC_000019.9:g.50437520_50437527dup, NC_000019.9:g.50437519_50437527dup, NG_021170.1:g.242_244del, NG_021170.1:g.243_244del, NG_021170.1:g.244del, NG_021170.1:g.244dup, NG_021170.1:g.243_244dup, NG_021170.1:g.242_244dup, NG_021170.1:g.241_244dup, NG_021170.1:g.237_244dup, NG_021170.1:g.236_244dup, NG_023448.1:g.468_470del, NG_023448.1:g.469_470del, NG_023448.1:g.470del, NG_023448.1:g.470dup, NG_023448.1:g.469_470dup, NG_023448.1:g.468_470dup, NG_023448.1:g.467_470dup, NG_023448.1:g.463_470dup, NG_023448.1:g.462_470dup

Select item 149108223912.

rs1491082239 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 19:49934260 (GRCh38)
19:50437518 (GRCh37)
Canonical SPDI:: NC_000019.10:49934260::G,NC_000019.10:49934260::GG
Gene:: ATF5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00468/35 (TOMMO)
HGVS:: NC_000019.10:g.49934260_49934261insG, NC_000019.10:g.49934260_49934261insGG, NC_000019.9:g.50437517_50437518insG, NC_000019.9:g.50437517_50437518insGG, NG_021170.1:g.245_246insC, NG_021170.1:g.245_246insCC, NG_023448.1:g.471_472insC, NG_023448.1:g.471_472insCC

Select item 149103575013.

rs1491035750 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:49907558 (GRCh38)
19:50410815 (GRCh37)
Canonical SPDI:: NC_000019.10:49907557:TG:
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.008009/95 (ALFA)
-=0.000654/76 (GnomAD)
-=0.004342/122 (TOMMO)
HGVS:: NC_000019.10:g.49907558_49907559del, NC_000019.9:g.50410815_50410816del, NG_021170.1:g.26947_26948del, NG_023448.1:g.27173_27174del, NM_016553.5:c.*680_*681del, NM_016553.4:c.*680_*681del, NM_012346.5:c.*680_*681del, NM_012346.4:c.*680_*681del, NM_153719.4:c.*680_*681del, NM_153719.3:c.*680_*681del, NM_153718.4:c.*680_*681del, NM_153718.3:c.*680_*681del, NM_001193357.2:c.*680_*681del, NM_001193357.1:c.*680_*681del

Select item 149101725514.

rs1491017255 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:49897475 (GRCh38)
19:50400732 (GRCh37)
Canonical SPDI:: NC_000019.10:49897474:GA:
Gene:: IL4I1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000128/34 (TOPMED)
-=0.00013/13 (GnomAD)
HGVS:: NC_000019.10:g.49897475_49897476del, NC_000019.9:g.50400732_50400733del, NG_021170.1:g.37030_37031del

Select item 149095469015.

rs1490954690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49905251 (GRCh38)
19:50408508 (GRCh37)
Canonical SPDI:: NC_000019.10:49905250:A:C
Gene:: IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.49905251A>C, NC_000019.9:g.50408508A>C, NG_021170.1:g.29255T>G, NG_023448.1:g.29481T>G

Select item 149093689916.

rs1490936899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49924244 (GRCh38)
19:50427501 (GRCh37)
Canonical SPDI:: NC_000019.10:49924243:T:C
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.49924244T>C, NC_000019.9:g.50427501T>C, NG_021170.1:g.10262A>G, NG_023448.1:g.10488A>G

Select item 149093460817.

rs1490934608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:49891536 (GRCh38)
19:50394793 (GRCh37)
Canonical SPDI:: NC_000019.10:49891535:T:A
Gene:: IL4I1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49891536T>A, NC_000019.9:g.50394793T>A, NG_021170.1:g.42970A>T

Select item 149089293718.

rs1490892937 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:49899358 (GRCh38)
19:50402615 (GRCh37)
Canonical SPDI:: NC_000019.10:49899357:AG:
Gene:: IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.49899358_49899359del, NC_000019.9:g.50402615_50402616del, NG_021170.1:g.35147_35148del

Select item 149078159119.

rs1490781591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49929179 (GRCh38)
19:50432436 (GRCh37)
Canonical SPDI:: NC_000019.10:49929178:C:T
Gene:: ATF5 (Varview), NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (Korea1K)
HGVS:: NC_000019.10:g.49929179C>T, NC_000019.9:g.50432436C>T, NG_021170.1:g.5327G>A, NG_023448.1:g.5553G>A, NM_001193646.1:c.-341C>T

Select item 149064921120.

rs1490649211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:49917594 (GRCh38)
19:50420851 (GRCh37)
Canonical SPDI:: NC_000019.10:49917593:T:C,NC_000019.10:49917593:T:G
Gene:: NUP62 (Varview), IL4I1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (PRJEB36033)
G=0.000004/1 (TOPMED)
C=0.000602/10 (TOMMO)
HGVS:: NC_000019.10:g.49917594T>C, NC_000019.10:g.49917594T>G, NC_000019.9:g.50420851T>C, NC_000019.9:g.50420851T>G, NG_021170.1:g.16912A>G, NG_021170.1:g.16912A>C, NG_023448.1:g.17138A>G, NG_023448.1:g.17138A>C

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

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