SNP Links for Gene (Select 5657) - SNP

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Select item 14915890041.

rs1491589004 has merged into rs112350346 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTGTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:842330 (GRCh38)
19:842330 (GRCh37)
Canonical SPDI:: NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:842318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4391/2199 (1000Genomes)
HGVS:: NC_000019.10:g.842330_842335del, NC_000019.10:g.842331_842335del, NC_000019.10:g.842332_842335del, NC_000019.10:g.842333_842335del, NC_000019.10:g.842334_842335del, NC_000019.10:g.842335del, NC_000019.10:g.842335dup, NC_000019.10:g.842334_842335dup, NC_000019.10:g.842319_842335T[19]GTTTTTTTTTTTTTTTTT[2]T[5], NC_000019.10:g.842333_842335dup, NC_000019.10:g.842332_842335dup, NC_000019.9:g.842330_842335del, NC_000019.9:g.842331_842335del, NC_000019.9:g.842332_842335del, NC_000019.9:g.842333_842335del, NC_000019.9:g.842334_842335del, NC_000019.9:g.842335del, NC_000019.9:g.842335dup, NC_000019.9:g.842334_842335dup, NC_000019.9:g.842319_842335T[19]GTTTTTTTTTTTTTTTTT[2]T[5], NC_000019.9:g.842333_842335dup, NC_000019.9:g.842332_842335dup, NT_187622.1:g.21173_21178del, NT_187622.1:g.21174_21178del, NT_187622.1:g.21175_21178del, NT_187622.1:g.21176_21178del, NT_187622.1:g.21177_21178del, NT_187622.1:g.21178del, NT_187622.1:g.21178dup, NT_187622.1:g.21177_21178dup, NT_187622.1:g.21162_21178T[19]GTTTTTTTTTTTTTTTTT[2]T[5], NT_187622.1:g.21176_21178dup, NT_187622.1:g.21175_21178dup

Select item 14914923032.

rs1491492303 has merged into rs71174326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:842600 (GRCh38)
19:842600 (GRCh37)
Canonical SPDI:: NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842586:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.375/3 (KOREAN)
HGVS:: NC_000019.10:g.842600_842606del, NC_000019.10:g.842601_842606del, NC_000019.10:g.842602_842606del, NC_000019.10:g.842603_842606del, NC_000019.10:g.842604_842606del, NC_000019.10:g.842605_842606del, NC_000019.10:g.842606del, NC_000019.10:g.842606dup, NC_000019.10:g.842605_842606dup, NC_000019.10:g.842604_842606dup, NC_000019.10:g.842603_842606dup, NC_000019.10:g.842602_842606dup, NC_000019.10:g.842601_842606dup, NC_000019.10:g.842600_842606dup, NC_000019.10:g.842599_842606dup, NC_000019.10:g.842598_842606dup, NC_000019.10:g.842597_842606dup, NC_000019.10:g.842596_842606dup, NC_000019.10:g.842595_842606dup, NC_000019.10:g.842594_842606dup, NC_000019.10:g.842593_842606dup, NC_000019.10:g.842592_842606dup, NC_000019.10:g.842590_842606dup, NC_000019.10:g.842588_842606dup, NC_000019.9:g.842600_842606del, NC_000019.9:g.842601_842606del, NC_000019.9:g.842602_842606del, NC_000019.9:g.842603_842606del, NC_000019.9:g.842604_842606del, NC_000019.9:g.842605_842606del, NC_000019.9:g.842606del, NC_000019.9:g.842606dup, NC_000019.9:g.842605_842606dup, NC_000019.9:g.842604_842606dup, NC_000019.9:g.842603_842606dup, NC_000019.9:g.842602_842606dup, NC_000019.9:g.842601_842606dup, NC_000019.9:g.842600_842606dup, NC_000019.9:g.842599_842606dup, NC_000019.9:g.842598_842606dup, NC_000019.9:g.842597_842606dup, NC_000019.9:g.842596_842606dup, NC_000019.9:g.842595_842606dup, NC_000019.9:g.842594_842606dup, NC_000019.9:g.842593_842606dup, NC_000019.9:g.842592_842606dup, NC_000019.9:g.842590_842606dup, NC_000019.9:g.842588_842606dup, NT_187622.1:g.21443_21449del, NT_187622.1:g.21444_21449del, NT_187622.1:g.21445_21449del, NT_187622.1:g.21446_21449del, NT_187622.1:g.21447_21449del, NT_187622.1:g.21448_21449del, NT_187622.1:g.21449del, NT_187622.1:g.21449dup, NT_187622.1:g.21448_21449dup, NT_187622.1:g.21447_21449dup, NT_187622.1:g.21446_21449dup, NT_187622.1:g.21445_21449dup, NT_187622.1:g.21444_21449dup, NT_187622.1:g.21443_21449dup, NT_187622.1:g.21442_21449dup, NT_187622.1:g.21441_21449dup, NT_187622.1:g.21440_21449dup, NT_187622.1:g.21439_21449dup, NT_187622.1:g.21438_21449dup, NT_187622.1:g.21437_21449dup, NT_187622.1:g.21436_21449dup, NT_187622.1:g.21435_21449dup, NT_187622.1:g.21433_21449dup, NT_187622.1:g.21431_21449dup

Select item 14914821683.

rs1491482168 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 19:847583 (GRCh38)
19:847583 (GRCh37)
Canonical SPDI:: NC_000019.10:847581:AAA:A,NC_000019.10:847581:AAA:AA
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000106/2 (TOMMO)
-=0.000165/23 (GnomAD)
HGVS:: NC_000019.10:g.847583_847584del, NC_000019.10:g.847584del, NC_000019.9:g.847583_847584del, NC_000019.9:g.847584del, NG_009627.1:g.293_294del, NG_009627.1:g.294del, NT_187622.1:g.26426_26427del, NT_187622.1:g.26427del

Select item 14913886664.

rs1491388666 has merged into rs34047197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:842425 (GRCh38)
19:842425 (GRCh37)
Canonical SPDI:: NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:842413:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.842425_842437del, NC_000019.10:g.842427_842437del, NC_000019.10:g.842428_842437del, NC_000019.10:g.842429_842437del, NC_000019.10:g.842430_842437del, NC_000019.10:g.842431_842437del, NC_000019.10:g.842432_842437del, NC_000019.10:g.842433_842437del, NC_000019.10:g.842434_842437del, NC_000019.10:g.842435_842437del, NC_000019.10:g.842436_842437del, NC_000019.10:g.842437del, NC_000019.10:g.842437dup, NC_000019.10:g.842436_842437dup, NC_000019.10:g.842435_842437dup, NC_000019.10:g.842434_842437dup, NC_000019.10:g.842433_842437dup, NC_000019.10:g.842432_842437dup, NC_000019.10:g.842431_842437dup, NC_000019.10:g.842430_842437dup, NC_000019.10:g.842429_842437dup, NC_000019.10:g.842428_842437dup, NC_000019.10:g.842427_842437dup, NC_000019.10:g.842426_842437dup, NC_000019.10:g.842425_842437dup, NC_000019.10:g.842424_842437dup, NC_000019.10:g.842423_842437dup, NC_000019.10:g.842422_842437dup, NC_000019.10:g.842421_842437dup, NC_000019.10:g.842420_842437dup, NC_000019.10:g.842419_842437dup, NC_000019.10:g.842418_842437dup, NC_000019.10:g.842417_842437dup, NC_000019.10:g.842416_842437dup, NC_000019.10:g.842415_842437dup, NC_000019.10:g.842414_842437dup, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842425_842437del, NC_000019.9:g.842427_842437del, NC_000019.9:g.842428_842437del, NC_000019.9:g.842429_842437del, NC_000019.9:g.842430_842437del, NC_000019.9:g.842431_842437del, NC_000019.9:g.842432_842437del, NC_000019.9:g.842433_842437del, NC_000019.9:g.842434_842437del, NC_000019.9:g.842435_842437del, NC_000019.9:g.842436_842437del, NC_000019.9:g.842437del, NC_000019.9:g.842437dup, NC_000019.9:g.842436_842437dup, NC_000019.9:g.842435_842437dup, NC_000019.9:g.842434_842437dup, NC_000019.9:g.842433_842437dup, NC_000019.9:g.842432_842437dup, NC_000019.9:g.842431_842437dup, NC_000019.9:g.842430_842437dup, NC_000019.9:g.842429_842437dup, NC_000019.9:g.842428_842437dup, NC_000019.9:g.842427_842437dup, NC_000019.9:g.842426_842437dup, NC_000019.9:g.842425_842437dup, NC_000019.9:g.842424_842437dup, NC_000019.9:g.842423_842437dup, NC_000019.9:g.842422_842437dup, NC_000019.9:g.842421_842437dup, NC_000019.9:g.842420_842437dup, NC_000019.9:g.842419_842437dup, NC_000019.9:g.842418_842437dup, NC_000019.9:g.842417_842437dup, NC_000019.9:g.842416_842437dup, NC_000019.9:g.842415_842437dup, NC_000019.9:g.842414_842437dup, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.842437_842438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21268_21280del, NT_187622.1:g.21270_21280del, NT_187622.1:g.21271_21280del, NT_187622.1:g.21272_21280del, NT_187622.1:g.21273_21280del, NT_187622.1:g.21274_21280del, NT_187622.1:g.21275_21280del, NT_187622.1:g.21276_21280del, NT_187622.1:g.21277_21280del, NT_187622.1:g.21278_21280del, NT_187622.1:g.21279_21280del, NT_187622.1:g.21280del, NT_187622.1:g.21280dup, NT_187622.1:g.21279_21280dup, NT_187622.1:g.21278_21280dup, NT_187622.1:g.21277_21280dup, NT_187622.1:g.21276_21280dup, NT_187622.1:g.21275_21280dup, NT_187622.1:g.21274_21280dup, NT_187622.1:g.21273_21280dup, NT_187622.1:g.21272_21280dup, NT_187622.1:g.21271_21280dup, NT_187622.1:g.21270_21280dup, NT_187622.1:g.21269_21280dup, NT_187622.1:g.21268_21280dup, NT_187622.1:g.21267_21280dup, NT_187622.1:g.21266_21280dup, NT_187622.1:g.21265_21280dup, NT_187622.1:g.21264_21280dup, NT_187622.1:g.21263_21280dup, NT_187622.1:g.21262_21280dup, NT_187622.1:g.21261_21280dup, NT_187622.1:g.21260_21280dup, NT_187622.1:g.21259_21280dup, NT_187622.1:g.21258_21280dup, NT_187622.1:g.21257_21280dup, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187622.1:g.21280_21281insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913654185.

rs1491365418 has merged into rs919331270 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 19:842028 (GRCh38)
19:842028 (GRCh37)
Canonical SPDI:: NC_000019.10:842027:TTTTTTTTT:TTTTTTTT,NC_000019.10:842027:TTTTTTTTT:TTTTTTTTTT
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.006998/112 (ALFA)
-=0.008006/2119 (TOPMED)
-=0.015789/9 (NorthernSweden)
HGVS:: NC_000019.10:g.842036del, NC_000019.10:g.842036dup, NC_000019.9:g.842036del, NC_000019.9:g.842036dup, NT_187622.1:g.20879del, NT_187622.1:g.20879dup

Select item 14912909706.

rs1491290970 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:847582 (GRCh38)
19:847583 (GRCh37)
Canonical SPDI:: NC_000019.10:847582::G
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.847582_847583insG, NC_000019.9:g.847582_847583insG, NG_009627.1:g.292_293insG, NT_187622.1:g.26425_26426insG

Select item 14911845267.

rs1491184526 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:842413 (GRCh38)
19:842413 (GRCh37)
Canonical SPDI:: NC_000019.10:842412:AT:
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.842413_842414del, NC_000019.9:g.842413_842414del, NT_187622.1:g.21256_21257del

Select item 14911771508.

rs1491177150 [Homo sapiens]

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

Select item 14911395249.

rs1491139524 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:842318 (GRCh38)
19:842318 (GRCh37)
Canonical SPDI:: NC_000019.10:842317:AT:
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.842318_842319del, NC_000019.9:g.842318_842319del, NT_187622.1:g.21161_21162del

Select item 149105063610.

rs1491050636 has merged into rs35429597 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 19:845726 (GRCh38)
19:845726 (GRCh37)
Canonical SPDI:: NC_000019.10:845714:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:845714:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:845714:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:845714:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:845714:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.425/17 (GENOME_DK)
-=0.4782/2395 (1000Genomes)
HGVS:: NC_000019.10:g.845726_845728del, NC_000019.10:g.845727_845728del, NC_000019.10:g.845728del, NC_000019.10:g.845728dup, NC_000019.10:g.845727_845728dup, NC_000019.9:g.845726_845728del, NC_000019.9:g.845727_845728del, NC_000019.9:g.845728del, NC_000019.9:g.845728dup, NC_000019.9:g.845727_845728dup, NT_187622.1:g.24569_24571del, NT_187622.1:g.24570_24571del, NT_187622.1:g.24571del, NT_187622.1:g.24571dup, NT_187622.1:g.24570_24571dup

Select item 149100374811.

rs1491003748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:848429 (GRCh38)
19:848429 (GRCh37)
Canonical SPDI:: NC_000019.10:848428:C:G
Gene:: PRTN3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.848429C>G, NC_000019.9:g.848429C>G, NG_009627.1:g.1139C>G, NT_187622.1:g.27272C>G

Select item 149017750612.

rs1490177506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:839484 (GRCh38)
19:839484 (GRCh37)
Canonical SPDI:: NC_000019.10:839483:T:C
Gene:: PRTN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.839484T>C, NC_000019.9:g.839484T>C, NT_187622.1:g.18327T>C

Select item 149001453413.

rs1490014534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:839141 (GRCh38)
19:839141 (GRCh37)
Canonical SPDI:: NC_000019.10:839140:C:T
Gene:: PRTN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.839141C>T, NC_000019.9:g.839141C>T, NT_187622.1:g.17984C>T

Select item 148999881314.

rs1489998813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:845528 (GRCh38)
19:845528 (GRCh37)
Canonical SPDI:: NC_000019.10:845527:G:A,NC_000019.10:845527:G:C
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000106/3 (TOMMO)
HGVS:: NC_000019.10:g.845528G>A, NC_000019.10:g.845528G>C, NC_000019.9:g.845528G>A, NC_000019.9:g.845528G>C, NT_187622.1:g.24371G>A, NT_187622.1:g.24371G>C

Select item 148997340015.

rs1489973400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:848461 (GRCh38)
19:848461 (GRCh37)
Canonical SPDI:: NC_000019.10:848460:T:C
Gene:: PRTN3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.848461T>C, NC_000019.9:g.848461T>C, NG_009627.1:g.1171T>C, NT_187622.1:g.27304T>C

Select item 148922028716.

rs1489220287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:844640 (GRCh38)
19:844640 (GRCh37)
Canonical SPDI:: NC_000019.10:844639:C:G
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.844640C>G, NC_000019.9:g.844640C>G, NT_187622.1:g.23483C>G

Select item 148917504917.

rs1489175049 has merged into rs1214157092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 19:847555 (GRCh38)
19:847555 (GRCh37)
Canonical SPDI:: NC_000019.10:847553:AAA:A,NC_000019.10:847553:AAA:AAAAA
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.005568/88 (TOMMO)
HGVS:: NC_000019.10:g.847555_847556del, NC_000019.10:g.847555_847556dup, NC_000019.9:g.847555_847556del, NC_000019.9:g.847555_847556dup, NG_009627.1:g.265_266del, NG_009627.1:g.265_266dup, NT_187622.1:g.26398_26399del, NT_187622.1:g.26398_26399dup

Select item 148860240618.

rs1488602406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:843266 (GRCh38)
19:843266 (GRCh37)
Canonical SPDI:: NC_000019.10:843265:C:T
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.843266C>T, NC_000019.9:g.843266C>T, NT_187622.1:g.22109C>T

Select item 148847708619.

rs1488477086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:841902 (GRCh38)
19:841902 (GRCh37)
Canonical SPDI:: NC_000019.10:841901:T:A
Gene:: PRTN3 (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.841902T>A, NC_000019.9:g.841902T>A, NT_187622.1:g.20745T>A

Select item 148841588020.

rs1488415880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:842397 (GRCh38)
19:842397 (GRCh37)
Canonical SPDI:: NC_000019.10:842396:A:G
Gene:: PRTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000037/4 (GnomAD)
G=0.017808/52 (KOREAN)
HGVS:: NC_000019.10:g.842397A>G, NC_000019.9:g.842397A>G, NT_187622.1:g.21240A>G

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