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Select item 14914533781.

rs1491453378 has merged into rs4031072 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGG>-,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 16:19113388 (GRCh38)
16:19124710 (GRCh37)
Canonical SPDI:: NC_000016.10:19113384:GGGGGGGGGGG:GGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:19113384:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.111111/4 (GENOME_DK)
HGVS:: NC_000016.10:g.19113388_19113395del, NC_000016.10:g.19113392_19113395del, NC_000016.10:g.19113393_19113395del, NC_000016.10:g.19113394_19113395del, NC_000016.10:g.19113395del, NC_000016.10:g.19113395dup, NC_000016.10:g.19113394_19113395dup, NC_000016.10:g.19113393_19113395dup, NC_000016.10:g.19113392_19113395dup, NC_000016.9:g.19124710_19124717del, NC_000016.9:g.19124714_19124717del, NC_000016.9:g.19124715_19124717del, NC_000016.9:g.19124716_19124717del, NC_000016.9:g.19124717del, NC_000016.9:g.19124717dup, NC_000016.9:g.19124716_19124717dup, NC_000016.9:g.19124715_19124717dup, NC_000016.9:g.19124714_19124717dup

Select item 14914221452.

rs1491422145 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 16:19120626 (GRCh38)
16:19131949 (GRCh37)
Canonical SPDI:: NC_000016.10:19120626::A,NC_000016.10:19120626::ATA,NC_000016.10:19120626::ATATA,NC_000016.10:19120626::ATATATA,NC_000016.10:19120626::ATATATATA,NC_000016.10:19120626::ATATATATATA,NC_000016.10:19120626::ATATATATATATA,NC_000016.10:19120626::ATATATATATATATA,NC_000016.10:19120626::ATATATATATATATATA,NC_000016.10:19120626::ATATATATATATATATATA,NC_000016.10:19120626::ATATATATATATATATATATA,NC_000016.10:19120626::ATATATATATATATATATATATA,NC_000016.10:19120626::ATATATATATATATATATATATATA
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.01546/9 (NorthernSweden)
HGVS:: NC_000016.10:g.19120626_19120627insA, NC_000016.10:g.19120626_19120627insATA, NC_000016.10:g.19120626_19120627insATATA, NC_000016.10:g.19120626_19120627insATATATA, NC_000016.10:g.19120626_19120627insATATATATA, NC_000016.10:g.19120626_19120627insATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATATATATATA, NC_000016.10:g.19120626_19120627insATATATATATATATATATATATATA, NC_000016.9:g.19131948_19131949insA, NC_000016.9:g.19131948_19131949insATA, NC_000016.9:g.19131948_19131949insATATA, NC_000016.9:g.19131948_19131949insATATATA, NC_000016.9:g.19131948_19131949insATATATATA, NC_000016.9:g.19131948_19131949insATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATATATATATA, NC_000016.9:g.19131948_19131949insATATATATATATATATATATATATA, NM_001034841.4:c.*4557_*4558insA, NM_001034841.4:c.*4557_*4558insATA, NM_001034841.4:c.*4557_*4558insATATA, NM_001034841.4:c.*4557_*4558insATATATA, NM_001034841.4:c.*4557_*4558insATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATATATATATA, NM_001034841.4:c.*4557_*4558insATATATATATATATATATATATATA, NM_001034841.3:c.*4557_*4558insA, NM_001034841.3:c.*4557_*4558insATA, NM_001034841.3:c.*4557_*4558insATATA, NM_001034841.3:c.*4557_*4558insATATATA, NM_001034841.3:c.*4557_*4558insATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATATATATATA, NM_001034841.3:c.*4557_*4558insATATATATATATATATATATATATA, NR_028028.2:n.6147_6148insA, NR_028028.2:n.6147_6148insATA, NR_028028.2:n.6147_6148insATATA, NR_028028.2:n.6147_6148insATATATA, NR_028028.2:n.6147_6148insATATATATA, NR_028028.2:n.6147_6148insATATATATATA, NR_028028.2:n.6147_6148insATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATATATATATA, NR_028028.2:n.6147_6148insATATATATATATATATATATATATA, NR_028028.1:n.6179_6180insA, NR_028028.1:n.6179_6180insATA, NR_028028.1:n.6179_6180insATATA, NR_028028.1:n.6179_6180insATATATA, NR_028028.1:n.6179_6180insATATATATA, NR_028028.1:n.6179_6180insATATATATATA, NR_028028.1:n.6179_6180insATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATATATATATA, NR_028028.1:n.6179_6180insATATATATATATATATATATATATA

Select item 14914011653.

rs1491401165 has merged into rs529339023 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:19120632 (GRCh38)
16:19131954 (GRCh37)
Canonical SPDI:: NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19120625:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.19120632_19120643del, NC_000016.10:g.19120633_19120643del, NC_000016.10:g.19120634_19120643del, NC_000016.10:g.19120635_19120643del, NC_000016.10:g.19120636_19120643del, NC_000016.10:g.19120637_19120643del, NC_000016.10:g.19120638_19120643del, NC_000016.10:g.19120639_19120643del, NC_000016.10:g.19120640_19120643del, NC_000016.10:g.19120641_19120643del, NC_000016.10:g.19120642_19120643del, NC_000016.10:g.19120643del, NC_000016.10:g.19120643dup, NC_000016.10:g.19120642_19120643dup, NC_000016.10:g.19120641_19120643dup, NC_000016.10:g.19120640_19120643dup, NC_000016.10:g.19120639_19120643dup, NC_000016.10:g.19120638_19120643dup, NC_000016.10:g.19120636_19120643dup, NC_000016.9:g.19131954_19131965del, NC_000016.9:g.19131955_19131965del, NC_000016.9:g.19131956_19131965del, NC_000016.9:g.19131957_19131965del, NC_000016.9:g.19131958_19131965del, NC_000016.9:g.19131959_19131965del, NC_000016.9:g.19131960_19131965del, NC_000016.9:g.19131961_19131965del, NC_000016.9:g.19131962_19131965del, NC_000016.9:g.19131963_19131965del, NC_000016.9:g.19131964_19131965del, NC_000016.9:g.19131965del, NC_000016.9:g.19131965dup, NC_000016.9:g.19131964_19131965dup, NC_000016.9:g.19131963_19131965dup, NC_000016.9:g.19131962_19131965dup, NC_000016.9:g.19131961_19131965dup, NC_000016.9:g.19131960_19131965dup, NC_000016.9:g.19131958_19131965dup, NM_001034841.4:c.*4563_*4574del, NM_001034841.4:c.*4564_*4574del, NM_001034841.4:c.*4565_*4574del, NM_001034841.4:c.*4566_*4574del, NM_001034841.4:c.*4567_*4574del, NM_001034841.4:c.*4568_*4574del, NM_001034841.4:c.*4569_*4574del, NM_001034841.4:c.*4570_*4574del, NM_001034841.4:c.*4571_*4574del, NM_001034841.4:c.*4572_*4574del, NM_001034841.4:c.*4573_*4574del, NM_001034841.4:c.*4574del, NM_001034841.4:c.*4574dup, NM_001034841.4:c.*4573_*4574dup, NM_001034841.4:c.*4572_*4574dup, NM_001034841.4:c.*4571_*4574dup, NM_001034841.4:c.*4570_*4574dup, NM_001034841.4:c.*4569_*4574dup, NM_001034841.4:c.*4567_*4574dup, NM_001034841.3:c.*4563_*4574del, NM_001034841.3:c.*4564_*4574del, NM_001034841.3:c.*4565_*4574del, NM_001034841.3:c.*4566_*4574del, NM_001034841.3:c.*4567_*4574del, NM_001034841.3:c.*4568_*4574del, NM_001034841.3:c.*4569_*4574del, NM_001034841.3:c.*4570_*4574del, NM_001034841.3:c.*4571_*4574del, NM_001034841.3:c.*4572_*4574del, NM_001034841.3:c.*4573_*4574del, NM_001034841.3:c.*4574del, NM_001034841.3:c.*4574dup, NM_001034841.3:c.*4573_*4574dup, NM_001034841.3:c.*4572_*4574dup, NM_001034841.3:c.*4571_*4574dup, NM_001034841.3:c.*4570_*4574dup, NM_001034841.3:c.*4569_*4574dup, NM_001034841.3:c.*4567_*4574dup, NR_028028.2:n.6153_6164del, NR_028028.2:n.6154_6164del, NR_028028.2:n.6155_6164del, NR_028028.2:n.6156_6164del, NR_028028.2:n.6157_6164del, NR_028028.2:n.6158_6164del, NR_028028.2:n.6159_6164del, NR_028028.2:n.6160_6164del, NR_028028.2:n.6161_6164del, NR_028028.2:n.6162_6164del, NR_028028.2:n.6163_6164del, NR_028028.2:n.6164del, NR_028028.2:n.6164dup, NR_028028.2:n.6163_6164dup, NR_028028.2:n.6162_6164dup, NR_028028.2:n.6161_6164dup, NR_028028.2:n.6160_6164dup, NR_028028.2:n.6159_6164dup, NR_028028.2:n.6157_6164dup, NR_028028.1:n.6185_6196del, NR_028028.1:n.6186_6196del, NR_028028.1:n.6187_6196del, NR_028028.1:n.6188_6196del, NR_028028.1:n.6189_6196del, NR_028028.1:n.6190_6196del, NR_028028.1:n.6191_6196del, NR_028028.1:n.6192_6196del, NR_028028.1:n.6193_6196del, NR_028028.1:n.6194_6196del, NR_028028.1:n.6195_6196del, NR_028028.1:n.6196del, NR_028028.1:n.6196dup, NR_028028.1:n.6195_6196dup, NR_028028.1:n.6194_6196dup, NR_028028.1:n.6193_6196dup, NR_028028.1:n.6192_6196dup, NR_028028.1:n.6191_6196dup, NR_028028.1:n.6189_6196dup

Select item 14913670704.

rs1491367070 [Homo sapiens]

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

Select item 14913350945.

rs1491335094 has merged into rs34474350 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:19113193 (GRCh38)
16:19124515 (GRCh37)
Canonical SPDI:: NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19113181:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.19113193_19113206del, NC_000016.10:g.19113195_19113206del, NC_000016.10:g.19113196_19113206del, NC_000016.10:g.19113197_19113206del, NC_000016.10:g.19113199_19113206del, NC_000016.10:g.19113200_19113206del, NC_000016.10:g.19113201_19113206del, NC_000016.10:g.19113202_19113206del, NC_000016.10:g.19113203_19113206del, NC_000016.10:g.19113204_19113206del, NC_000016.10:g.19113205_19113206del, NC_000016.10:g.19113206del, NC_000016.10:g.19113206dup, NC_000016.10:g.19113205_19113206dup, NC_000016.10:g.19113204_19113206dup, NC_000016.10:g.19113203_19113206dup, NC_000016.10:g.19113202_19113206dup, NC_000016.10:g.19113201_19113206dup, NC_000016.10:g.19113200_19113206dup, NC_000016.10:g.19113184_19113206dup, NC_000016.9:g.19124515_19124528del, NC_000016.9:g.19124517_19124528del, NC_000016.9:g.19124518_19124528del, NC_000016.9:g.19124519_19124528del, NC_000016.9:g.19124521_19124528del, NC_000016.9:g.19124522_19124528del, NC_000016.9:g.19124523_19124528del, NC_000016.9:g.19124524_19124528del, NC_000016.9:g.19124525_19124528del, NC_000016.9:g.19124526_19124528del, NC_000016.9:g.19124527_19124528del, NC_000016.9:g.19124528del, NC_000016.9:g.19124528dup, NC_000016.9:g.19124527_19124528dup, NC_000016.9:g.19124526_19124528dup, NC_000016.9:g.19124525_19124528dup, NC_000016.9:g.19124524_19124528dup, NC_000016.9:g.19124523_19124528dup, NC_000016.9:g.19124522_19124528dup, NC_000016.9:g.19124506_19124528dup

Select item 14912109216.

rs1491210921 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:19112256 (GRCh38)
16:19123578 (GRCh37)
Canonical SPDI:: NC_000016.10:19112255:AT:
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000095/13 (GnomAD)
-=0.000098/26 (TOPMED)
-=0.000248/4 (TOMMO)
HGVS:: NC_000016.10:g.19112256_19112257del, NC_000016.9:g.19123578_19123579del

Select item 14911353137.

rs1491135313 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 16:19113385 (GRCh38)
16:19124708 (GRCh37)
Canonical SPDI:: NC_000016.10:19113385::A,NC_000016.10:19113385::T
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.003712/7 (GnomAD)
HGVS:: NC_000016.10:g.19113385_19113386insA, NC_000016.10:g.19113385_19113386insT, NC_000016.9:g.19124707_19124708insA, NC_000016.9:g.19124707_19124708insT

Select item 14907512568.

rs1490751256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:19119069 (GRCh38)
16:19130391 (GRCh37)
Canonical SPDI:: NC_000016.10:19119068:C:T
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.19119069C>T, NC_000016.9:g.19130391C>T, NM_001034841.4:c.*3000C>T, NM_001034841.3:c.*3000C>T, NR_028028.2:n.4590C>T, NR_028028.1:n.4622C>T

Select item 14906943959.

rs1490694395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:19116634 (GRCh38)
16:19127957 (GRCh37)
Canonical SPDI:: NC_000016.10:19116634:TTTTT:TTTTTT
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.19116639dup, NC_000016.9:g.19127961dup, NM_001034841.4:c.*570dup, NM_001034841.3:c.*570dup, NR_028028.2:n.2160dup, NR_028028.1:n.2192dup

Select item 149063785510.

rs1490637855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:19118437 (GRCh38)
16:19129759 (GRCh37)
Canonical SPDI:: NC_000016.10:19118436:C:A
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.19118437C>A, NC_000016.9:g.19129759C>A, NM_001034841.4:c.*2368C>A, NM_001034841.3:c.*2368C>A, NR_028028.2:n.3958C>A, NR_028028.1:n.3990C>A

Select item 149013039911.

rs1490130399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATGAGTGT>- [Show Flanks]
Chromosome:: 16:19112551 (GRCh38)
16:19123873 (GRCh37)
Canonical SPDI:: NC_000016.10:19112546:GTGTAATGAGTGT:GTGT
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.19112551_19112559del, NC_000016.9:g.19123873_19123881del

Select item 148993192612.

rs1489931926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:19120067 (GRCh38)
16:19131389 (GRCh37)
Canonical SPDI:: NC_000016.10:19120066:T:C
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.19120067T>C, NC_000016.9:g.19131389T>C, NM_001034841.4:c.*3998T>C, NM_001034841.3:c.*3998T>C, NR_028028.2:n.5588T>C, NR_028028.1:n.5620T>C

Select item 148985480913.

rs1489854809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:19117943 (GRCh38)
16:19129265 (GRCh37)
Canonical SPDI:: NC_000016.10:19117942:G:A
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19117943G>A, NC_000016.9:g.19129265G>A, NM_001034841.4:c.*1874G>A, NM_001034841.3:c.*1874G>A, NR_028028.2:n.3464G>A, NR_028028.1:n.3496G>A

Select item 148982041014.

rs1489820410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:19118948 (GRCh38)
16:19130270 (GRCh37)
Canonical SPDI:: NC_000016.10:19118947:G:A,NC_000016.10:19118947:G:T
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19118948G>A, NC_000016.10:g.19118948G>T, NC_000016.9:g.19130270G>A, NC_000016.9:g.19130270G>T, NM_001034841.4:c.*2879G>A, NM_001034841.4:c.*2879G>T, NM_001034841.3:c.*2879G>A, NM_001034841.3:c.*2879G>T, NR_028028.2:n.4469G>A, NR_028028.2:n.4469G>T, NR_028028.1:n.4501G>A, NR_028028.1:n.4501G>T

Select item 148968464615.

rs1489684646 has merged into rs1197467855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAA>-,ACAAACAA [Show Flanks]
Chromosome:: 16:19112025 (GRCh38)
16:19123347 (GRCh37)
Canonical SPDI:: NC_000016.10:19112014:AAACAAACAAACAA:AAACAAACAA,NC_000016.10:19112014:AAACAAACAAACAA:AAACAAACAAACAAACAA
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAA=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000016.10:g.19112017ACAA[2], NC_000016.10:g.19112017ACAA[4], NC_000016.9:g.19123339ACAA[2], NC_000016.9:g.19123339ACAA[4]

Select item 148968218816.

rs1489682188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:19121156 (GRCh38)
16:19132479 (GRCh37)
Canonical SPDI:: NC_000016.10:19121156:T:TT
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19121157dup, NC_000016.9:g.19132479dup, NM_001034841.4:c.*5088dup, NM_001034841.3:c.*5088dup, NR_028028.2:n.6678dup, NR_028028.1:n.6710dup

Select item 148932212717.

rs1489322127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:19112078 (GRCh38)
16:19123400 (GRCh37)
Canonical SPDI:: NC_000016.10:19112077:T:G
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.19112078T>G, NC_000016.9:g.19123400T>G

Select item 148899387918.

rs1488993879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:19116206 (GRCh38)
16:19127528 (GRCh37)
Canonical SPDI:: NC_000016.10:19116205:T:G
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.19116206T>G, NC_000016.9:g.19127528T>G, NM_001034841.4:c.*137T>G, NM_001034841.3:c.*137T>G, NR_028028.2:n.1727T>G, NR_028028.1:n.1759T>G

Select item 148857878119.

rs1488578781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:19115857 (GRCh38)
16:19127179 (GRCh37)
Canonical SPDI:: NC_000016.10:19115856:G:A
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.19115857G>A, NC_000016.9:g.19127179G>A, NM_001034841.4:c.1396G>A, NM_001034841.3:c.1396G>A, NR_028028.2:n.1378G>A, NR_028028.1:n.1410G>A, NP_001030013.1:p.Gly466Ser

Select item 148845083320.

rs1488450833 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:19120967 (GRCh38)
16:19132289 (GRCh37)
Canonical SPDI:: NC_000016.10:19120966:GGGG:GGG
Gene:: ITPRIPL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.19120970del, NC_000016.9:g.19132292del, NM_001034841.4:c.*4901del, NM_001034841.3:c.*4901del, NR_028028.2:n.6491del, NR_028028.1:n.6523del

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