SNP Links for Gene (Select 126206) - SNP

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Select item 14915810441.

rs1491581044 has merged into rs770624516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:56030726 (GRCh38)
19:56542092 (GRCh37)
Canonical SPDI:: NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56030714:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.56030726_56030732del, NC_000019.10:g.56030727_56030732del, NC_000019.10:g.56030728_56030732del, NC_000019.10:g.56030729_56030732del, NC_000019.10:g.56030730_56030732del, NC_000019.10:g.56030731_56030732del, NC_000019.10:g.56030732del, NC_000019.10:g.56030732dup, NC_000019.10:g.56030715_56030732T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.56030731_56030732dup, NC_000019.10:g.56030730_56030732dup, NC_000019.10:g.56030729_56030732dup, NC_000019.10:g.56030728_56030732dup, NC_000019.10:g.56030727_56030732dup, NC_000019.10:g.56030726_56030732dup, NC_000019.10:g.56030725_56030732dup, NC_000019.10:g.56030724_56030732dup, NC_000019.10:g.56030723_56030732dup, NC_000019.10:g.56030722_56030732dup, NC_000019.10:g.56030721_56030732dup, NC_000019.10:g.56030720_56030732dup, NC_000019.10:g.56030719_56030732dup, NC_000019.10:g.56030718_56030732dup, NC_000019.10:g.56030717_56030732dup, NC_000019.10:g.56030716_56030732dup, NC_000019.10:g.56030715_56030732dup, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.56030732_56030733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542092_56542098del, NC_000019.9:g.56542093_56542098del, NC_000019.9:g.56542094_56542098del, NC_000019.9:g.56542095_56542098del, NC_000019.9:g.56542096_56542098del, NC_000019.9:g.56542097_56542098del, NC_000019.9:g.56542098del, NC_000019.9:g.56542098dup, NC_000019.9:g.56542081_56542098T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.56542097_56542098dup, NC_000019.9:g.56542096_56542098dup, NC_000019.9:g.56542095_56542098dup, NC_000019.9:g.56542094_56542098dup, NC_000019.9:g.56542093_56542098dup, NC_000019.9:g.56542092_56542098dup, NC_000019.9:g.56542091_56542098dup, NC_000019.9:g.56542090_56542098dup, NC_000019.9:g.56542089_56542098dup, NC_000019.9:g.56542088_56542098dup, NC_000019.9:g.56542087_56542098dup, NC_000019.9:g.56542086_56542098dup, NC_000019.9:g.56542085_56542098dup, NC_000019.9:g.56542084_56542098dup, NC_000019.9:g.56542083_56542098dup, NC_000019.9:g.56542082_56542098dup, NC_000019.9:g.56542081_56542098dup, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.56542098_56542099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48944_48950del, NG_046924.1:g.48945_48950del, NG_046924.1:g.48946_48950del, NG_046924.1:g.48947_48950del, NG_046924.1:g.48948_48950del, NG_046924.1:g.48949_48950del, NG_046924.1:g.48950del, NG_046924.1:g.48950dup, NG_046924.1:g.48933_48950T[19]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046924.1:g.48949_48950dup, NG_046924.1:g.48948_48950dup, NG_046924.1:g.48947_48950dup, NG_046924.1:g.48946_48950dup, NG_046924.1:g.48945_48950dup, NG_046924.1:g.48944_48950dup, NG_046924.1:g.48943_48950dup, NG_046924.1:g.48942_48950dup, NG_046924.1:g.48941_48950dup, NG_046924.1:g.48940_48950dup, NG_046924.1:g.48939_48950dup, NG_046924.1:g.48938_48950dup, NG_046924.1:g.48937_48950dup, NG_046924.1:g.48936_48950dup, NG_046924.1:g.48935_48950dup, NG_046924.1:g.48934_48950dup, NG_046924.1:g.48933_48950dup, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046924.1:g.48950_48951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915214462.

rs1491521446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 19:56005575 (GRCh38)
19:56516942 (GRCh37)
Canonical SPDI:: NC_000019.10:56005575:C:CGC
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000019.10:g.56005576_56005577insGC, NC_000019.9:g.56516942_56516943insGC, NG_046924.1:g.23794_23795insGC

Select item 14915174903.

rs1491517490 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGTGTGTAG [Show Flanks]
Chromosome:: 19:55998673 (GRCh38)
19:56510040 (GRCh37)
Canonical SPDI:: NC_000019.10:55998673::GTGTGTGTAG
Gene:: NLRP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.55998673_55998674insGTGTGTGTAG, NC_000019.9:g.56510039_56510040insGTGTGTGTAG, NG_046924.1:g.16891_16892insGTGTGTGTAG

Select item 14915069284.

rs1491506928 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:56054567 (GRCh38)
19:56565933 (GRCh37)
Canonical SPDI:: NC_000019.10:56054566:GA:
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0011/31 (TOMMO)
HGVS:: NC_000019.10:g.56054567_56054568del, NC_000019.9:g.56565933_56565934del, NG_046924.1:g.72785_72786del

Select item 14915051895.

rs1491505189 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTTA [Show Flanks]
Chromosome:: 19:56020891 (GRCh38)
19:56532258 (GRCh37)
Canonical SPDI:: NC_000019.10:56020891::TTA,NC_000019.10:56020891::TTTA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTA=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.56020891_56020892insTTA, NC_000019.10:g.56020891_56020892insTTTA, NC_000019.9:g.56532257_56532258insTTA, NC_000019.9:g.56532257_56532258insTTTA, NG_046924.1:g.39109_39110insTTA, NG_046924.1:g.39109_39110insTTTA

Select item 14914984246.

rs1491498424 has merged into rs11312971 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:56012587 (GRCh38)
19:56523953 (GRCh37)
Canonical SPDI:: NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:56012576:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.136/681 (1000Genomes)
HGVS:: NC_000019.10:g.56012587_56012591del, NC_000019.10:g.56012588_56012591del, NC_000019.10:g.56012589_56012591del, NC_000019.10:g.56012590_56012591del, NC_000019.10:g.56012591del, NC_000019.10:g.56012591dup, NC_000019.10:g.56012590_56012591dup, NC_000019.9:g.56523953_56523957del, NC_000019.9:g.56523954_56523957del, NC_000019.9:g.56523955_56523957del, NC_000019.9:g.56523956_56523957del, NC_000019.9:g.56523957del, NC_000019.9:g.56523957dup, NC_000019.9:g.56523956_56523957dup, NG_046924.1:g.30805_30809del, NG_046924.1:g.30806_30809del, NG_046924.1:g.30807_30809del, NG_046924.1:g.30808_30809del, NG_046924.1:g.30809del, NG_046924.1:g.30809dup, NG_046924.1:g.30808_30809dup

Select item 14914930827.

rs1491493082 has merged into rs1354380730 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCG>-,CG,CGCG,CGCGCGCG,CGCGCGCGCG [Show Flanks]
Chromosome:: 19:56007896 (GRCh38)
19:56519262 (GRCh37)
Canonical SPDI:: NC_000019.10:56007894:GCGCGCG:G,NC_000019.10:56007894:GCGCGCG:GCG,NC_000019.10:56007894:GCGCGCG:GCGCG,NC_000019.10:56007894:GCGCGCG:GCGCGCGCG,NC_000019.10:56007894:GCGCGCG:GCGCGCGCGCG
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
HGVS:: NC_000019.10:g.56007896_56007901del, NC_000019.10:g.56007896CG[1], NC_000019.10:g.56007896CG[2], NC_000019.10:g.56007896CG[4], NC_000019.10:g.56007896CG[5], NC_000019.9:g.56519262_56519267del, NC_000019.9:g.56519262CG[1], NC_000019.9:g.56519262CG[2], NC_000019.9:g.56519262CG[4], NC_000019.9:g.56519262CG[5], NG_046924.1:g.26114_26119del, NG_046924.1:g.26114CG[1], NG_046924.1:g.26114CG[2], NG_046924.1:g.26114CG[4], NG_046924.1:g.26114CG[5]

Select item 14914892058.

rs1491489205 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:56024444 (GRCh38)
19:56535811 (GRCh37)
Canonical SPDI:: NC_000019.10:56024444::G
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.56024444_56024445insG, NC_000019.9:g.56535810_56535811insG, NG_046924.1:g.42662_42663insG

Select item 14914687999.

rs1491468799 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA [Show Flanks]
Chromosome:: 19:56005623 (GRCh38)
19:56516990 (GRCh37)
Canonical SPDI:: NC_000019.10:56005623:A:ACA,NC_000019.10:56005623:A:ACACA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.00059/7 (ALFA)
HGVS:: NC_000019.10:g.56005624_56005625insCA, NC_000019.10:g.56005624_56005625insCACA, NC_000019.9:g.56516990_56516991insCA, NC_000019.9:g.56516990_56516991insCACA, NG_046924.1:g.23842_23843insCA, NG_046924.1:g.23842_23843insCACA

Select item 149146167210.

rs1491461672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:56055017 (GRCh38)
19:56566384 (GRCh37)
Canonical SPDI:: NC_000019.10:56055017:G:GG
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000019.10:g.56055018dup, NC_000019.9:g.56566384dup, NG_046924.1:g.73236dup

Select item 149146100111.

rs1491461001 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:56005583 (GRCh38)
19:56516949 (GRCh37)
Canonical SPDI:: NC_000019.10:56005581:CGC:C
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.012477/148 (ALFA)
-=0.003373/13 (ALSPAC)
-=0.008091/30 (TWINSUK)
-=0.011817/1519 (GnomAD)
HGVS:: NC_000019.10:g.56005583_56005584del, NC_000019.9:g.56516949_56516950del, NG_046924.1:g.23801_23802del

Select item 149146044912.

rs1491460449 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:56020891 (GRCh38)
19:56532257 (GRCh37)
Canonical SPDI:: NC_000019.10:56020890:TG:
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.56020891_56020892del, NC_000019.9:g.56532257_56532258del, NG_046924.1:g.39109_39110del

Select item 149145270013.

rs1491452700 [Homo sapiens]

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

Select item 149143756414.

rs1491437564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA [Show Flanks]
Chromosome:: 19:56001338 (GRCh38)
19:56512704 (GRCh37)
Canonical SPDI:: NC_000019.10:56001336:AAA:A,NC_000019.10:56001336:AAA:AAAA,NC_000019.10:56001336:AAA:AAAAA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00166/3 (Korea1K)
-=0.00306/49 (TOMMO)
HGVS:: NC_000019.10:g.56001338_56001339del, NC_000019.10:g.56001339dup, NC_000019.10:g.56001338_56001339dup, NC_000019.9:g.56512704_56512705del, NC_000019.9:g.56512705dup, NC_000019.9:g.56512704_56512705dup, NG_046924.1:g.19556_19557del, NG_046924.1:g.19557dup, NG_046924.1:g.19556_19557dup

Select item 149140184715.

rs1491401847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:56012576 (GRCh38)
19:56523942 (GRCh37)
Canonical SPDI:: NC_000019.10:56012575:CA:
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.56012576_56012577del, NC_000019.9:g.56523942_56523943del, NG_046924.1:g.30794_30795del

Select item 149138335116.

rs1491383351 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATG,TG [Show Flanks]
Chromosome:: 19:56024529 (GRCh38)
19:56535896 (GRCh37)
Canonical SPDI:: NC_000019.10:56024529::TATG,NC_000019.10:56024529::TG
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0.00059/7 (ALFA)
TATG=0.00012/6 (GnomAD)
HGVS:: NC_000019.10:g.56024529_56024530insTATG, NC_000019.10:g.56024529_56024530insTG, NC_000019.9:g.56535895_56535896insTATG, NC_000019.9:g.56535895_56535896insTG, NG_046924.1:g.42747_42748insTATG, NG_046924.1:g.42747_42748insTG

Select item 149136641717.

rs1491366417 has merged into rs10537523 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:56054576 (GRCh38)
19:56565942 (GRCh37)
Canonical SPDI:: NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:56054567:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.56054576_56054584del, NC_000019.10:g.56054578_56054584del, NC_000019.10:g.56054579_56054584del, NC_000019.10:g.56054580_56054584del, NC_000019.10:g.56054581_56054584del, NC_000019.10:g.56054582_56054584del, NC_000019.10:g.56054583_56054584del, NC_000019.10:g.56054584del, NC_000019.10:g.56054584dup, NC_000019.10:g.56054583_56054584dup, NC_000019.9:g.56565942_56565950del, NC_000019.9:g.56565944_56565950del, NC_000019.9:g.56565945_56565950del, NC_000019.9:g.56565946_56565950del, NC_000019.9:g.56565947_56565950del, NC_000019.9:g.56565948_56565950del, NC_000019.9:g.56565949_56565950del, NC_000019.9:g.56565950del, NC_000019.9:g.56565950dup, NC_000019.9:g.56565949_56565950dup, NG_046924.1:g.72794_72802del, NG_046924.1:g.72796_72802del, NG_046924.1:g.72797_72802del, NG_046924.1:g.72798_72802del, NG_046924.1:g.72799_72802del, NG_046924.1:g.72800_72802del, NG_046924.1:g.72801_72802del, NG_046924.1:g.72802del, NG_046924.1:g.72802dup, NG_046924.1:g.72801_72802dup

Select item 149135942818.

rs1491359428 has merged into rs10659776 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:56058037 (GRCh38)
19:56569403 (GRCh37)
Canonical SPDI:: NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56058028:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2406/1205 (1000Genomes)
HGVS:: NC_000019.10:g.56058037_56058044del, NC_000019.10:g.56058039_56058044del, NC_000019.10:g.56058040_56058044del, NC_000019.10:g.56058041_56058044del, NC_000019.10:g.56058042_56058044del, NC_000019.10:g.56058043_56058044del, NC_000019.10:g.56058044del, NC_000019.10:g.56058044dup, NC_000019.10:g.56058043_56058044dup, NC_000019.10:g.56058042_56058044dup, NC_000019.10:g.56058041_56058044dup, NC_000019.10:g.56058040_56058044dup, NC_000019.10:g.56058039_56058044dup, NC_000019.9:g.56569403_56569410del, NC_000019.9:g.56569405_56569410del, NC_000019.9:g.56569406_56569410del, NC_000019.9:g.56569407_56569410del, NC_000019.9:g.56569408_56569410del, NC_000019.9:g.56569409_56569410del, NC_000019.9:g.56569410del, NC_000019.9:g.56569410dup, NC_000019.9:g.56569409_56569410dup, NC_000019.9:g.56569408_56569410dup, NC_000019.9:g.56569407_56569410dup, NC_000019.9:g.56569406_56569410dup, NC_000019.9:g.56569405_56569410dup, NG_046924.1:g.76255_76262del, NG_046924.1:g.76257_76262del, NG_046924.1:g.76258_76262del, NG_046924.1:g.76259_76262del, NG_046924.1:g.76260_76262del, NG_046924.1:g.76261_76262del, NG_046924.1:g.76262del, NG_046924.1:g.76262dup, NG_046924.1:g.76261_76262dup, NG_046924.1:g.76260_76262dup, NG_046924.1:g.76259_76262dup, NG_046924.1:g.76258_76262dup, NG_046924.1:g.76257_76262dup

Select item 149131555919.

rs1491315559 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:56055017 (GRCh38)
19:56566383 (GRCh37)
Canonical SPDI:: NC_000019.10:56055016:TG:
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01576/187 (ALFA)
-=0.00151/103 (GnomAD)
-=0.00463/77 (TOMMO)
HGVS:: NC_000019.10:g.56055017_56055018del, NC_000019.9:g.56566383_56566384del, NG_046924.1:g.73235_73236del

Select item 149131376620.

rs1491313766 has merged into rs1335977297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 19:56024445 (GRCh38)
19:56535811 (GRCh37)
Canonical SPDI:: NC_000019.10:56024443:TTT:T,NC_000019.10:56024443:TTT:TT
Gene:: NLRP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000044/6 (GnomAD)
HGVS:: NC_000019.10:g.56024445_56024446del, NC_000019.10:g.56024446del, NC_000019.9:g.56535811_56535812del, NC_000019.9:g.56535812del, NG_046924.1:g.42663_42664del, NG_046924.1:g.42664del

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