SNP Links for Gene (Select 100505753) - SNP

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Select item 14915486851.

rs1491548685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:41310368 (GRCh38)
17:39466621 (GRCh37)
Canonical SPDI:: NC_000017.11:41310368:G:GG
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00086/57 (GnomAD)
HGVS:: NC_000017.11:g.41310369dup, NC_000017.10:g.39466621dup, NW_003315953.2:g.129892dup, NW_003315953.1:g.129892dup, NW_025791801.1:g.250257dup

Select item 14915484142.

rs1491548414 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310361 (GRCh38)
17:39466613 (GRCh37)
Canonical SPDI:: NC_000017.11:41310359:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310361_41310362del, NC_000017.10:g.39466613_39466614del, NW_003315953.2:g.129900_129901del, NW_003315953.1:g.129900_129901del, NW_025791801.1:g.250249_250250del

Select item 14915035473.

rs1491503547 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA,AAAA,AAAAGAAAGAAAGAAAGAAGGAAA,AAAAGAAAGAAAGAAAGAAGGAAAGAAA,AAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA,AAAGAAA,AAAGAAAA,AAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAA,AAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAA,AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAA,AAAGAAAGAAAGAAAGAAGGAAA,AAAGAAAGAAAGAAAGAAGGAAAGAAA,AAAGAAAGAAAGAAAGGAAA,AAAGAAAGAAAGAAGGAAA,AAAGAAAGAAAGAAGGAAAGAAA,AAAGAAAGAAAGAAGGAAAGAAAGAAA,AAAGAAAGAAAGAAGGAAAGAAAGAAAAA,AAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA,AAAGAAAGAAAGGAAA,AAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA,AAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAAGAAA,AAAGAAAGAAGGAAA,AAAGAAAGAAGGAAAGAAA,AAAGAAAGAAGGAAAGAAAGAAA,AAAGAAAGGAAA,AAAGAAAGGAAAGAAAGAAAGAAGGAAA,AAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA,AAAGAAGGAAA,AAAGAAGGAAAGAAA,AAAGAAGGAAAGAAAGAAA,AAAGAAGGAAAGAAAGAAAGAAA,AAAGAAGGAAAGAAAGAAAGAAAGAAA,AAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAA,AAAGGAAA,AAAGGAAAGAAAGAAAGAAGGAAA,AAAGGAAAGAAAGAAAGAAGGAAAGAAA,AAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAA,AAGGAAA,AAGGAAAGAAA,AAGGAAAGAAAGAAA,AAGGAAAGAAAGAAAGAAAGAAAAA,AAGGAAAGAAAGAAGGAAA [Show Flanks]
Chromosome:: 17:41310389 (GRCh38)
17:39466642 (GRCh37)
Canonical SPDI:: NC_000017.11:41310389::AAA,NC_000017.11:41310389::AAAA,NC_000017.11:41310389::AAAAGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAAGAAAGAAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAA,NC_000017.11:41310389::AAAGAAAA,NC_000017.11:41310389::AAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAGGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAGGAAAGAAAGAAAAA,NC_000017.11:41310389::AAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAAGAAGGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAAGGAAA,NC_000017.11:41310389::AAAGAAAGGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA,NC_000017.11:41310389::AAAGAAGGAAA,NC_000017.11:41310389::AAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGAAGGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAGGAAAGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAGGAAAGAAAGAAAGAAAGAAA,NC_000017.11:41310389::AAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAA,NC_000017.11:41310389::AAAGGAAA,NC_000017.11:41310389::AAAGGAAAGAAAGAAAGAAGGAAA,NC_000017.11:41310389::AAAGGAAAGAAAGAAAGAAGGAAAGAAA,NC_000017.11:41310389::AAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAA,NC_000017.11:41310389::AAGGAAA,NC_000017.11:41310389::AAGGAAAGAAA,NC_000017.11:41310389::AAGGAAAGAAAGAAA,NC_000017.11:41310389::AAGGAAAGAAAGAAAGAAAGAAAAA,NC_000017.11:41310389::AAGGAAAGAAAGAAGGAAA
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310389_41310390insAAA, NC_000017.11:g.41310389_41310390insAAAA, NC_000017.11:g.41310389_41310390insAAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAA, NC_000017.11:g.41310389_41310390insAAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAGGAAAGAAAGAAAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAAGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAAGAAAGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.11:g.41310389_41310390insAAAGGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAGGAAA, NC_000017.11:g.41310389_41310390insAAGGAAAGAAA, NC_000017.11:g.41310389_41310390insAAGGAAAGAAAGAAA, NC_000017.11:g.41310389_41310390insAAGGAAAGAAAGAAAGAAAGAAAAA, NC_000017.11:g.41310389_41310390insAAGGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAA, NC_000017.10:g.39466641_39466642insAAAA, NC_000017.10:g.39466641_39466642insAAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAA, NC_000017.10:g.39466641_39466642insAAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAGGAAAGAAAGAAAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAAGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAAGAAAGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGGAAAGAAAGAAAGAAGGAAA, NC_000017.10:g.39466641_39466642insAAAGGAAAGAAAGAAAGAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAGGAAA, NC_000017.10:g.39466641_39466642insAAGGAAAGAAA, NC_000017.10:g.39466641_39466642insAAGGAAAGAAAGAAA, NC_000017.10:g.39466641_39466642insAAGGAAAGAAAGAAAGAAAGAAAAA, NC_000017.10:g.39466641_39466642insAAGGAAAGAAAGAAGGAAA, NW_003315953.2:g.129871_129872insTTT, NW_003315953.2:g.129871_129872insTTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.2:g.129871_129872insTTTCTTT, NW_003315953.2:g.129871_129872insTTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.2:g.129871_129872insTTTCCTTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.2:g.129871_129872insTTTCCTT, NW_003315953.2:g.129871_129872insTTTCTTTCCTT, NW_003315953.2:g.129871_129872insTTTCTTTCTTTCCTT, NW_003315953.2:g.129871_129872insTTTTTCTTTCTTTCTTTCTTTCCTT, NW_003315953.2:g.129871_129872insTTTCCTTCTTTCTTTCCTT, NW_003315953.1:g.129871_129872insTTT, NW_003315953.1:g.129871_129872insTTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTT, NW_003315953.1:g.129871_129872insTTTCTTT, NW_003315953.1:g.129871_129872insTTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCTTTTTCTTTCTTTCTTTCTTTCCTTCTTT, NW_003315953.1:g.129871_129872insTTTCCTTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTT, NW_003315953.1:g.129871_129872insTTTCCTT, NW_003315953.1:g.129871_129872insTTTCTTTCCTT, NW_003315953.1:g.129871_129872insTTTCTTTCTTTCCTT, NW_003315953.1:g.129871_129872insTTTTTCTTTCTTTCTTTCTTTCCTT, NW_003315953.1:g.129871_129872insTTTCCTTCTTTCTTTCCTT, NW_025791801.1:g.250293_250294insAAA, NW_025791801.1:g.250293_250294insAAAA, NW_025791801.1:g.250293_250294insAAAAGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAA, NW_025791801.1:g.250293_250294insAAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAGGAAAGAAAGAAAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAAGGAAAGAAAGAAAGAAGGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAAGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAAGAAAGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAA, NW_025791801.1:g.250293_250294insAAAGGAAA, NW_025791801.1:g.250293_250294insAAAGGAAAGAAAGAAAGAAGGAAA, NW_025791801.1:g.250293_250294insAAAGGAAAGAAAGAAAGAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAGGAAA, NW_025791801.1:g.250293_250294insAAGGAAAGAAA, NW_025791801.1:g.250293_250294insAAGGAAAGAAAGAAA, NW_025791801.1:g.250293_250294insAAGGAAAGAAAGAAAGAAAGAAAAA, NW_025791801.1:g.250293_250294insAAGGAAAGAAAGAAGGAAA

Select item 14914641644.

rs1491464164 has merged into rs149462440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:41310376 (GRCh38)
17:39466629 (GRCh37)
Canonical SPDI:: NC_000017.11:41310376:G:GG
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00029/5 (TOMMO)
G=0.03376/2602 (GnomAD)
HGVS:: NC_000017.11:g.41310377dup, NC_000017.10:g.39466629dup, NW_003315953.2:g.129884dup, NW_003315953.1:g.129884dup, NW_025791801.1:g.250265dup

Select item 14914605975.

rs1491460597 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310357 (GRCh38)
17:39466609 (GRCh37)
Canonical SPDI:: NC_000017.11:41310355:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310357_41310358del, NC_000017.10:g.39466609_39466610del, NW_003315953.2:g.129904_129905del, NW_003315953.1:g.129904_129905del, NW_025791801.1:g.250245_250246del

Select item 14914196706.

rs1491419670 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:41310409 (GRCh38)
17:39466661 (GRCh37)
Canonical SPDI:: NC_000017.11:41310408:GG:
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310409_41310410del, NC_000017.10:g.39466661_39466662del, NW_003315953.2:g.129851_129852del, NW_003315953.1:g.129851_129852del, NW_025791801.1:g.250313A>G, NW_025791801.1:g.250314_250315del

Select item 14913874507.

rs1491387450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:41310360 (GRCh38)
17:39466613 (GRCh37)
Canonical SPDI:: NC_000017.11:41310360:G:GG
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.0002/3 (TOMMO)
G=0.00327/276 (GnomAD)
HGVS:: NC_000017.11:g.41310361dup, NC_000017.10:g.39466613dup, NW_003315953.2:g.129900dup, NW_003315953.1:g.129900dup, NW_025791801.1:g.250249dup

Select item 14912728068.

rs1491272806 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310381 (GRCh38)
17:39466633 (GRCh37)
Canonical SPDI:: NC_000017.11:41310379:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310381_41310382del, NC_000017.10:g.39466633_39466634del, NW_003315953.2:g.129880_129881del, NW_003315953.1:g.129880_129881del, NW_025791801.1:g.250269_250270del

Select item 14912567719.

rs1491256771 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA,AAAGAAA,AAAGAAAGAAA,AAAGAAAGAAAGAAA,AAAGAAAGAAGGAAGGAAAGAAAGAAA,AAGAAAGAAAGAAAGAAAGAAAGA,AGAAAGAAAGAAAGAAAGAA [Show Flanks]
Chromosome:: 17:41310409 (GRCh38)
17:39466662 (GRCh37)
Canonical SPDI:: NC_000017.11:41310409::AAA,NC_000017.11:41310409::AAAGAAA,NC_000017.11:41310409::AAAGAAAGAAA,NC_000017.11:41310409::AAAGAAAGAAAGAAA,NC_000017.11:41310409::AAAGAAAGAAGGAAGGAAAGAAAGAAA,NC_000017.11:41310409::AAGAAAGAAAGAAAGAAAGAAAGA,NC_000017.11:41310409::AGAAAGAAAGAAAGAAAGAA
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310409_41310410insAAA, NC_000017.11:g.41310409_41310410insAAAGAAA, NC_000017.11:g.41310409_41310410insAAAGAAAGAAA, NC_000017.11:g.41310409_41310410insAAAGAAAGAAAGAAA, NC_000017.11:g.41310409_41310410insAAAGAAAGAAGGAAGGAAAGAAAGAAA, NC_000017.11:g.41310409_41310410insAAGAAAGAAAGAAAGAAAGAAAGA, NC_000017.11:g.41310409_41310410insAGAAAGAAAGAAAGAAAGAA, NC_000017.10:g.39466661_39466662insAAA, NC_000017.10:g.39466661_39466662insAAAGAAA, NC_000017.10:g.39466661_39466662insAAAGAAAGAAA, NC_000017.10:g.39466661_39466662insAAAGAAAGAAAGAAA, NC_000017.10:g.39466661_39466662insAAAGAAAGAAGGAAGGAAAGAAAGAAA, NC_000017.10:g.39466661_39466662insAAGAAAGAAAGAAAGAAAGAAAGA, NC_000017.10:g.39466661_39466662insAGAAAGAAAGAAAGAAAGAA, NW_003315953.2:g.129851_129852insTTT, NW_003315953.2:g.129851_129852insTTTCTTT, NW_003315953.2:g.129851_129852insTTTCTTTCTTT, NW_003315953.2:g.129851_129852insTTTCTTTCTTTCTTT, NW_003315953.2:g.129851_129852insTTTCTTTCTTTCCTTCCTTCTTTCTTT, NW_003315953.2:g.129851_129852insTCTTTCTTTCTTTCTTTCTTTCTT, NW_003315953.2:g.129851_129852insTTCTTTCTTTCTTTCTTTCT, NW_003315953.1:g.129851_129852insTTT, NW_003315953.1:g.129851_129852insTTTCTTT, NW_003315953.1:g.129851_129852insTTTCTTTCTTT, NW_003315953.1:g.129851_129852insTTTCTTTCTTTCTTT, NW_003315953.1:g.129851_129852insTTTCTTTCTTTCCTTCCTTCTTTCTTT, NW_003315953.1:g.129851_129852insTCTTTCTTTCTTTCTTTCTTTCTT, NW_003315953.1:g.129851_129852insTTCTTTCTTTCTTTCTTTCT, NW_025791801.1:g.250311_250313dup, NW_025791801.1:g.250307_250313dup, NW_025791801.1:g.250303_250313dup, NW_025791801.1:g.250299_250313dup, NW_025791801.1:g.250302_250313GAAA[3]AAAG[2]AAGG[2]AAAG[2]AAA[1], NW_025791801.1:g.250314AAGA[6], NW_025791801.1:g.250314AGAA[5]

Select item 149123599710.

rs1491235997 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310402 (GRCh38)
17:39466654 (GRCh37)
Canonical SPDI:: NC_000017.11:41310400:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.41310402_41310403del, NC_000017.10:g.39466654_39466655del, NW_003315953.2:g.129859_129860del, NW_003315953.1:g.129859_129860del, NW_025791801.1:g.250306_250307del

Select item 149119692411.

rs1491196924 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GAAGG [Show Flanks]
Chromosome:: 17:41310380 (GRCh38)
17:39466633 (GRCh37)
Canonical SPDI:: NC_000017.11:41310380:G:GG,NC_000017.11:41310380:G:GGAAGG
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.01175/187 (TOMMO)
HGVS:: NC_000017.11:g.41310381dup, NC_000017.11:g.41310381_41310382insGAAGG, NC_000017.10:g.39466633dup, NC_000017.10:g.39466633_39466634insGAAGG, NW_003315953.2:g.129880dup, NW_003315953.2:g.129880_129881insCTTCC, NW_003315953.1:g.129880dup, NW_003315953.1:g.129880_129881insCTTCC, NW_025791801.1:g.250269dup, NW_025791801.1:g.250269_250270insGAAGG

Select item 149115817312.

rs1491158173 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA,GGAAGGAA [Show Flanks]
Chromosome:: 17:41310401 (GRCh38)
17:39466654 (GRCh37)
Canonical SPDI:: NC_000017.11:41310401:GAA:GAAGGAA,NC_000017.11:41310401:GAA:GAAGGAAGGAA
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAAGGAA=0./0 (ALFA)
GAAGGAAG=0.00004/1 (TOMMO)
GAAG=0.00012/12 (GnomAD)
HGVS:: NC_000017.11:g.41310404_41310405insGGAA, NC_000017.11:g.41310404_41310405insGGAAGGAA, NC_000017.10:g.39466656_39466657insGGAA, NC_000017.10:g.39466656_39466657insGGAAGGAA, NW_003315953.2:g.129859_129860insCTTC, NW_003315953.2:g.129859_129860insCTTCCTTC, NW_003315953.1:g.129859_129860insCTTC, NW_003315953.1:g.129859_129860insCTTCCTTC, NW_025791801.1:g.250308_250309insGGAA, NW_025791801.1:g.250308_250309insGGAAGGAA

Select item 149112204013.

rs1491122040 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310369 (GRCh38)
17:39466621 (GRCh37)
Canonical SPDI:: NC_000017.11:41310367:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.41310369_41310370del, NC_000017.10:g.39466621_39466622del, NW_003315953.2:g.129892_129893del, NW_003315953.1:g.129892_129893del, NW_025791801.1:g.250257_250258del

Select item 149109564014.

rs1491095640 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:41310377 (GRCh38)
17:39466629 (GRCh37)
Canonical SPDI:: NC_000017.11:41310375:AGA:A
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41310377_41310378del, NC_000017.10:g.39466629_39466630del, NW_003315953.2:g.129884_129885del, NW_003315953.1:g.129884_129885del, NW_025791801.1:g.250265_250266del

Select item 149099254315.

rs1490992543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41309871 (GRCh38)
17:39466123 (GRCh37)
Canonical SPDI:: NC_000017.11:41309870:C:T
Gene:: KRTAP16-1 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41309871C>T, NC_000017.10:g.39466123C>T, NW_003315953.2:g.130390G>A, NW_003315953.1:g.130390G>A, NW_025791801.1:g.249759C>T

Select item 149096143316.

rs1490961433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41308913 (GRCh38)
17:39465165 (GRCh37)
Canonical SPDI:: NC_000017.11:41308912:A:C
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.41308913A>C, NC_000017.10:g.39465165A>C, NW_003315953.2:g.131348T>G, NW_003315953.1:g.131348T>G, NW_025791801.1:g.248801A>C, NM_001146182.2:c.341T>G, NM_001146182.1:c.341T>G, NP_001139654.1:p.Phe114Cys

Select item 149086525017.

rs1490865250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41308642 (GRCh38)
17:39464894 (GRCh37)
Canonical SPDI:: NC_000017.11:41308641:A:G
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41308642A>G, NC_000017.10:g.39464894A>G, NW_003315953.2:g.131619T>C, NW_003315953.1:g.131619T>C, NW_025791801.1:g.248530A>G, NM_001146182.2:c.612T>C, NM_001146182.1:c.612T>C

Select item 149084962518.

rs1490849625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:41308555 (GRCh38)
17:39464807 (GRCh37)
Canonical SPDI:: NC_000017.11:41308554:G:C,NC_000017.11:41308554:G:T
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41308555G>C, NC_000017.11:g.41308555G>T, NC_000017.10:g.39464807G>C, NC_000017.10:g.39464807G>T, NW_003315953.2:g.131706C>G, NW_003315953.2:g.131706C>A, NW_003315953.1:g.131706C>G, NW_003315953.1:g.131706C>A, NW_025791801.1:g.248443G>C, NW_025791801.1:g.248443G>T, NM_001146182.2:c.699C>G, NM_001146182.2:c.699C>A, NM_001146182.1:c.699C>G, NM_001146182.1:c.699C>A, NP_001139654.1:p.Cys233Trp, NP_001139654.1:p.Cys233Ter

Select item 149050029919.

rs1490500299 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAA>- [Show Flanks]
Chromosome:: 17:41310269 (GRCh38)
17:39466521 (GRCh37)
Canonical SPDI:: NC_000017.11:41310261:GAAGGAAGGAA:GAAGGAA
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000015/1 (GnomAD)
HGVS:: NC_000017.11:g.41310265GGAA[1], NC_000017.10:g.39466517GGAA[1], NW_003315953.2:g.129992CTTC[1], NW_003315953.1:g.129992CTTC[1], NW_025791801.1:g.250153GGAA[1]

Select item 149001045120.

rs1490010451 has merged into rs762815633 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 17:41310359 (GRCh38)
17:39466611 (GRCh37)
Canonical SPDI:: NC_000017.11:41310357:AAA:A,NC_000017.11:41310357:AAA:AA,NC_000017.11:41310357:AAA:AAAA
Gene:: KRTAP16-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0./0 (TWINSUK)
HGVS:: NC_000017.11:g.41310359_41310360del, NC_000017.11:g.41310360del, NC_000017.11:g.41310360dup, NC_000017.10:g.39466611_39466612del, NC_000017.10:g.39466612del, NC_000017.10:g.39466612dup, NW_003315953.2:g.129902_129903del, NW_003315953.2:g.129903del, NW_003315953.2:g.129903dup, NW_003315953.1:g.129902_129903del, NW_003315953.1:g.129903del, NW_003315953.1:g.129903dup, NW_025791801.1:g.250247_250248del, NW_025791801.1:g.250248del, NW_025791801.1:g.250248dup

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