SNP Links for Gene (Select 58500) - SNP

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Select item 14915792801.

rs1491579280 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144888595 (GRCh38)
8:146113980 (GRCh37)
Canonical SPDI:: NC_000008.11:144888594:CA:
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00363/43 (ALFA)
-=0.00394/66 (TOMMO)
HGVS:: NC_000008.11:g.144888595_144888596del, NC_000008.10:g.146113980_146113981del

Select item 14915785312.

rs1491578531 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144887252 (GRCh38)
8:146112637 (GRCh37)
Canonical SPDI:: NC_000008.11:144887251:CA:
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000008.11:g.144887252_144887253del, NC_000008.10:g.146112637_146112638del

Select item 14915370253.

rs1491537025 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:144896374 (GRCh38)
8:146121759 (GRCh37)
Canonical SPDI:: NC_000008.11:144896373:TA:
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144896374_144896375del, NC_000008.10:g.146121759_146121760del

Select item 14913617494.

rs1491361749 has merged into rs370237954 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 8:144894603 (GRCh38)
8:146119988 (GRCh37)
Canonical SPDI:: NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:144894589:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.02/12 (NorthernSweden)
-=0.07388/370 (1000Genomes)
HGVS:: NC_000008.11:g.144894603_144894605del, NC_000008.11:g.144894604_144894605del, NC_000008.11:g.144894605del, NC_000008.11:g.144894605dup, NC_000008.11:g.144894604_144894605dup, NC_000008.11:g.144894603_144894605dup, NC_000008.10:g.146119988_146119990del, NC_000008.10:g.146119989_146119990del, NC_000008.10:g.146119990del, NC_000008.10:g.146119990dup, NC_000008.10:g.146119989_146119990dup, NC_000008.10:g.146119988_146119990dup

Select item 14912947915.

rs1491294791 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144888596 (GRCh38)
8:146113982 (GRCh37)
Canonical SPDI:: NC_000008.11:144888596::G
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00015/14 (GnomAD)
G=0.00334/2 (NorthernSweden)
HGVS:: NC_000008.11:g.144888596_144888597insG, NC_000008.10:g.146113981_146113982insG

Select item 14912588636.

rs1491258863 has merged into rs36073563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144888608 (GRCh38)
8:146113993 (GRCh37)
Canonical SPDI:: NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144888608_144888620del, NC_000008.11:g.144888613_144888620del, NC_000008.11:g.144888614_144888620del, NC_000008.11:g.144888615_144888620del, NC_000008.11:g.144888617_144888620del, NC_000008.11:g.144888618_144888620del, NC_000008.11:g.144888619_144888620del, NC_000008.11:g.144888620del, NC_000008.11:g.144888620dup, NC_000008.11:g.144888619_144888620dup, NC_000008.11:g.144888618_144888620dup, NC_000008.11:g.144888617_144888620dup, NC_000008.11:g.144888615_144888620dup, NC_000008.11:g.144888596_144888620dup, NC_000008.10:g.146113993_146114005del, NC_000008.10:g.146113998_146114005del, NC_000008.10:g.146113999_146114005del, NC_000008.10:g.146114000_146114005del, NC_000008.10:g.146114002_146114005del, NC_000008.10:g.146114003_146114005del, NC_000008.10:g.146114004_146114005del, NC_000008.10:g.146114005del, NC_000008.10:g.146114005dup, NC_000008.10:g.146114004_146114005dup, NC_000008.10:g.146114003_146114005dup, NC_000008.10:g.146114002_146114005dup, NC_000008.10:g.146114000_146114005dup, NC_000008.10:g.146113981_146114005dup

Select item 14911725437.

rs1491172543 has merged into rs61668478 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 8:144880075 (GRCh38)
8:146105460 (GRCh37)
Canonical SPDI:: NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144880066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4463/2235 (1000Genomes)
HGVS:: NC_000008.11:g.144880075_144880082del, NC_000008.11:g.144880077_144880082del, NC_000008.11:g.144880078_144880082del, NC_000008.11:g.144880079_144880082del, NC_000008.11:g.144880080_144880082del, NC_000008.11:g.144880081_144880082del, NC_000008.11:g.144880082del, NC_000008.11:g.144880082dup, NC_000008.11:g.144880081_144880082dup, NC_000008.10:g.146105460_146105467del, NC_000008.10:g.146105462_146105467del, NC_000008.10:g.146105463_146105467del, NC_000008.10:g.146105464_146105467del, NC_000008.10:g.146105465_146105467del, NC_000008.10:g.146105466_146105467del, NC_000008.10:g.146105467del, NC_000008.10:g.146105467dup, NC_000008.10:g.146105466_146105467dup, NM_021061.5:c.*1441_*1448del, NM_021061.5:c.*1443_*1448del, NM_021061.5:c.*1444_*1448del, NM_021061.5:c.*1445_*1448del, NM_021061.5:c.*1446_*1448del, NM_021061.5:c.*1447_*1448del, NM_021061.5:c.*1448del, NM_021061.5:c.*1448dup, NM_021061.5:c.*1447_*1448dup, NM_021061.4:c.*1441_*1448del, NM_021061.4:c.*1443_*1448del, NM_021061.4:c.*1444_*1448del, NM_021061.4:c.*1445_*1448del, NM_021061.4:c.*1446_*1448del, NM_021061.4:c.*1447_*1448del, NM_021061.4:c.*1448del, NM_021061.4:c.*1448dup, NM_021061.4:c.*1447_*1448dup, NM_001109689.4:c.*1441_*1448del, NM_001109689.4:c.*1443_*1448del, NM_001109689.4:c.*1444_*1448del, NM_001109689.4:c.*1445_*1448del, NM_001109689.4:c.*1446_*1448del, NM_001109689.4:c.*1447_*1448del, NM_001109689.4:c.*1448del, NM_001109689.4:c.*1448dup, NM_001109689.4:c.*1447_*1448dup, NM_001109689.3:c.*1441_*1448del, NM_001109689.3:c.*1443_*1448del, NM_001109689.3:c.*1444_*1448del, NM_001109689.3:c.*1445_*1448del, NM_001109689.3:c.*1446_*1448del, NM_001109689.3:c.*1447_*1448del, NM_001109689.3:c.*1448del, NM_001109689.3:c.*1448dup, NM_001109689.3:c.*1447_*1448dup, NM_001363099.2:c.*1441_*1448del, NM_001363099.2:c.*1443_*1448del, NM_001363099.2:c.*1444_*1448del, NM_001363099.2:c.*1445_*1448del, NM_001363099.2:c.*1446_*1448del, NM_001363099.2:c.*1447_*1448del, NM_001363099.2:c.*1448del, NM_001363099.2:c.*1448dup, NM_001363099.2:c.*1447_*1448dup, NM_001363099.1:c.*1441_*1448del, NM_001363099.1:c.*1443_*1448del, NM_001363099.1:c.*1444_*1448del, NM_001363099.1:c.*1445_*1448del, NM_001363099.1:c.*1446_*1448del, NM_001363099.1:c.*1447_*1448del, NM_001363099.1:c.*1448del, NM_001363099.1:c.*1448dup, NM_001363099.1:c.*1447_*1448dup, NM_001363100.2:c.*1441_*1448del, NM_001363100.2:c.*1443_*1448del, NM_001363100.2:c.*1444_*1448del, NM_001363100.2:c.*1445_*1448del, NM_001363100.2:c.*1446_*1448del, NM_001363100.2:c.*1447_*1448del, NM_001363100.2:c.*1448del, NM_001363100.2:c.*1448dup, NM_001363100.2:c.*1447_*1448dup, NM_001363100.1:c.*1441_*1448del, NM_001363100.1:c.*1443_*1448del, NM_001363100.1:c.*1444_*1448del, NM_001363100.1:c.*1445_*1448del, NM_001363100.1:c.*1446_*1448del, NM_001363100.1:c.*1447_*1448del, NM_001363100.1:c.*1448del, NM_001363100.1:c.*1448dup, NM_001363100.1:c.*1447_*1448dup, NM_001363105.2:c.*1441_*1448del, NM_001363105.2:c.*1443_*1448del, NM_001363105.2:c.*1444_*1448del, NM_001363105.2:c.*1445_*1448del, NM_001363105.2:c.*1446_*1448del, NM_001363105.2:c.*1447_*1448del, NM_001363105.2:c.*1448del, NM_001363105.2:c.*1448dup, NM_001363105.2:c.*1447_*1448dup, NM_001363105.1:c.*1441_*1448del, NM_001363105.1:c.*1443_*1448del, NM_001363105.1:c.*1444_*1448del, NM_001363105.1:c.*1445_*1448del, NM_001363105.1:c.*1446_*1448del, NM_001363105.1:c.*1447_*1448del, NM_001363105.1:c.*1448del, NM_001363105.1:c.*1448dup, NM_001363105.1:c.*1447_*1448dup, NM_001363103.2:c.*1441_*1448del, NM_001363103.2:c.*1443_*1448del, NM_001363103.2:c.*1444_*1448del, NM_001363103.2:c.*1445_*1448del, NM_001363103.2:c.*1446_*1448del, NM_001363103.2:c.*1447_*1448del, NM_001363103.2:c.*1448del, NM_001363103.2:c.*1448dup, NM_001363103.2:c.*1447_*1448dup, NM_001363103.1:c.*1441_*1448del, NM_001363103.1:c.*1443_*1448del, NM_001363103.1:c.*1444_*1448del, NM_001363103.1:c.*1445_*1448del, NM_001363103.1:c.*1446_*1448del, NM_001363103.1:c.*1447_*1448del, NM_001363103.1:c.*1448del, NM_001363103.1:c.*1448dup, NM_001363103.1:c.*1447_*1448dup, NM_001363102.2:c.*1441_*1448del, NM_001363102.2:c.*1443_*1448del, NM_001363102.2:c.*1444_*1448del, NM_001363102.2:c.*1445_*1448del, NM_001363102.2:c.*1446_*1448del, NM_001363102.2:c.*1447_*1448del, NM_001363102.2:c.*1448del, NM_001363102.2:c.*1448dup, NM_001363102.2:c.*1447_*1448dup, NM_001363102.1:c.*1441_*1448del, NM_001363102.1:c.*1443_*1448del, NM_001363102.1:c.*1444_*1448del, NM_001363102.1:c.*1445_*1448del, NM_001363102.1:c.*1446_*1448del, NM_001363102.1:c.*1447_*1448del, NM_001363102.1:c.*1448del, NM_001363102.1:c.*1448dup, NM_001363102.1:c.*1447_*1448dup, NM_001363098.2:c.*1441_*1448del, NM_001363098.2:c.*1443_*1448del, NM_001363098.2:c.*1444_*1448del, NM_001363098.2:c.*1445_*1448del, NM_001363098.2:c.*1446_*1448del, NM_001363098.2:c.*1447_*1448del, NM_001363098.2:c.*1448del, NM_001363098.2:c.*1448dup, NM_001363098.2:c.*1447_*1448dup, NM_001363098.1:c.*1441_*1448del, NM_001363098.1:c.*1443_*1448del, NM_001363098.1:c.*1444_*1448del, NM_001363098.1:c.*1445_*1448del, NM_001363098.1:c.*1446_*1448del, NM_001363098.1:c.*1447_*1448del, NM_001363098.1:c.*1448del, NM_001363098.1:c.*1448dup, NM_001363098.1:c.*1447_*1448dup, NM_001363101.2:c.*1441_*1448del, NM_001363101.2:c.*1443_*1448del, NM_001363101.2:c.*1444_*1448del, NM_001363101.2:c.*1445_*1448del, NM_001363101.2:c.*1446_*1448del, NM_001363101.2:c.*1447_*1448del, NM_001363101.2:c.*1448del, NM_001363101.2:c.*1448dup, NM_001363101.2:c.*1447_*1448dup, NM_001363101.1:c.*1441_*1448del, NM_001363101.1:c.*1443_*1448del, NM_001363101.1:c.*1444_*1448del, NM_001363101.1:c.*1445_*1448del, NM_001363101.1:c.*1446_*1448del, NM_001363101.1:c.*1447_*1448del, NM_001363101.1:c.*1448del, NM_001363101.1:c.*1448dup, NM_001363101.1:c.*1447_*1448dup, NM_001363107.2:c.*1441_*1448del, NM_001363107.2:c.*1443_*1448del, NM_001363107.2:c.*1444_*1448del, NM_001363107.2:c.*1445_*1448del, NM_001363107.2:c.*1446_*1448del, NM_001363107.2:c.*1447_*1448del, NM_001363107.2:c.*1448del, NM_001363107.2:c.*1448dup, NM_001363107.2:c.*1447_*1448dup, NM_001363107.1:c.*1441_*1448del, NM_001363107.1:c.*1443_*1448del, NM_001363107.1:c.*1444_*1448del, NM_001363107.1:c.*1445_*1448del, NM_001363107.1:c.*1446_*1448del, NM_001363107.1:c.*1447_*1448del, NM_001363107.1:c.*1448del, NM_001363107.1:c.*1448dup, NM_001363107.1:c.*1447_*1448dup, NM_001363104.2:c.*1441_*1448del, NM_001363104.2:c.*1443_*1448del, NM_001363104.2:c.*1444_*1448del, NM_001363104.2:c.*1445_*1448del, NM_001363104.2:c.*1446_*1448del, NM_001363104.2:c.*1447_*1448del, NM_001363104.2:c.*1448del, NM_001363104.2:c.*1448dup, NM_001363104.2:c.*1447_*1448dup, NM_001363104.1:c.*1441_*1448del, NM_001363104.1:c.*1443_*1448del, NM_001363104.1:c.*1444_*1448del, NM_001363104.1:c.*1445_*1448del, NM_001363104.1:c.*1446_*1448del, NM_001363104.1:c.*1447_*1448del, NM_001363104.1:c.*1448del, NM_001363104.1:c.*1448dup, NM_001363104.1:c.*1447_*1448dup, NM_001363106.2:c.*1441_*1448del, NM_001363106.2:c.*1443_*1448del, NM_001363106.2:c.*1444_*1448del, NM_001363106.2:c.*1445_*1448del, NM_001363106.2:c.*1446_*1448del, NM_001363106.2:c.*1447_*1448del, NM_001363106.2:c.*1448del, NM_001363106.2:c.*1448dup, NM_001363106.2:c.*1447_*1448dup, NM_001363106.1:c.*1441_*1448del, NM_001363106.1:c.*1443_*1448del, NM_001363106.1:c.*1444_*1448del, NM_001363106.1:c.*1445_*1448del, NM_001363106.1:c.*1446_*1448del, NM_001363106.1:c.*1447_*1448del, NM_001363106.1:c.*1448del, NM_001363106.1:c.*1448dup, NM_001363106.1:c.*1447_*1448dup, XM_047422064.1:c.*1441_*1448del, XM_047422064.1:c.*1443_*1448del, XM_047422064.1:c.*1444_*1448del, XM_047422064.1:c.*1445_*1448del, XM_047422064.1:c.*1446_*1448del, XM_047422064.1:c.*1447_*1448del, XM_047422064.1:c.*1448del, XM_047422064.1:c.*1448dup, XM_047422064.1:c.*1447_*1448dup, XM_047422065.1:c.*1441_*1448del, XM_047422065.1:c.*1443_*1448del, XM_047422065.1:c.*1444_*1448del, XM_047422065.1:c.*1445_*1448del, XM_047422065.1:c.*1446_*1448del, XM_047422065.1:c.*1447_*1448del, XM_047422065.1:c.*1448del, XM_047422065.1:c.*1448dup, XM_047422065.1:c.*1447_*1448dup

Select item 14911671918.

rs1491167191 has merged into rs56677445 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144887257 (GRCh38)
8:146112642 (GRCh37)
Canonical SPDI:: NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.0229/13 (NorthernSweden)
-=0.3381/1693 (1000Genomes)
HGVS:: NC_000008.11:g.144887257_144887280del, NC_000008.11:g.144887260_144887280del, NC_000008.11:g.144887264_144887280del, NC_000008.11:g.144887265_144887280del, NC_000008.11:g.144887266_144887280del, NC_000008.11:g.144887267_144887280del, NC_000008.11:g.144887268_144887280del, NC_000008.11:g.144887269_144887280del, NC_000008.11:g.144887270_144887280del, NC_000008.11:g.144887271_144887280del, NC_000008.11:g.144887272_144887280del, NC_000008.11:g.144887273_144887280del, NC_000008.11:g.144887274_144887280del, NC_000008.11:g.144887275_144887280del, NC_000008.11:g.144887276_144887280del, NC_000008.11:g.144887277_144887280del, NC_000008.11:g.144887278_144887280del, NC_000008.11:g.144887279_144887280del, NC_000008.11:g.144887280del, NC_000008.11:g.144887280dup, NC_000008.11:g.144887279_144887280dup, NC_000008.11:g.144887278_144887280dup, NC_000008.11:g.144887277_144887280dup, NC_000008.11:g.144887276_144887280dup, NC_000008.11:g.144887275_144887280dup, NC_000008.11:g.144887274_144887280dup, NC_000008.11:g.144887273_144887280dup, NC_000008.11:g.144887272_144887280dup, NC_000008.11:g.144887271_144887280dup, NC_000008.11:g.144887270_144887280dup, NC_000008.11:g.144887269_144887280dup, NC_000008.11:g.144887268_144887280dup, NC_000008.11:g.144887267_144887280dup, NC_000008.11:g.144887266_144887280dup, NC_000008.11:g.144887265_144887280dup, NC_000008.11:g.144887264_144887280dup, NC_000008.11:g.144887263_144887280dup, NC_000008.11:g.144887262_144887280dup, NC_000008.11:g.144887261_144887280dup, NC_000008.11:g.144887260_144887280dup, NC_000008.11:g.144887256_144887280dup, NC_000008.10:g.146112642_146112665del, NC_000008.10:g.146112645_146112665del, NC_000008.10:g.146112649_146112665del, NC_000008.10:g.146112650_146112665del, NC_000008.10:g.146112651_146112665del, NC_000008.10:g.146112652_146112665del, NC_000008.10:g.146112653_146112665del, NC_000008.10:g.146112654_146112665del, NC_000008.10:g.146112655_146112665del, NC_000008.10:g.146112656_146112665del, NC_000008.10:g.146112657_146112665del, NC_000008.10:g.146112658_146112665del, NC_000008.10:g.146112659_146112665del, NC_000008.10:g.146112660_146112665del, NC_000008.10:g.146112661_146112665del, NC_000008.10:g.146112662_146112665del, NC_000008.10:g.146112663_146112665del, NC_000008.10:g.146112664_146112665del, NC_000008.10:g.146112665del, NC_000008.10:g.146112665dup, NC_000008.10:g.146112664_146112665dup, NC_000008.10:g.146112663_146112665dup, NC_000008.10:g.146112662_146112665dup, NC_000008.10:g.146112661_146112665dup, NC_000008.10:g.146112660_146112665dup, NC_000008.10:g.146112659_146112665dup, NC_000008.10:g.146112658_146112665dup, NC_000008.10:g.146112657_146112665dup, NC_000008.10:g.146112656_146112665dup, NC_000008.10:g.146112655_146112665dup, NC_000008.10:g.146112654_146112665dup, NC_000008.10:g.146112653_146112665dup, NC_000008.10:g.146112652_146112665dup, NC_000008.10:g.146112651_146112665dup, NC_000008.10:g.146112650_146112665dup, NC_000008.10:g.146112649_146112665dup, NC_000008.10:g.146112648_146112665dup, NC_000008.10:g.146112647_146112665dup, NC_000008.10:g.146112646_146112665dup, NC_000008.10:g.146112645_146112665dup, NC_000008.10:g.146112641_146112665dup

Select item 14911515369.

rs1491151536 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:144880066 (GRCh38)
8:146105451 (GRCh37)
Canonical SPDI:: NC_000008.11:144880065:CA:
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.144880066_144880067del, NC_000008.10:g.146105451_146105452del, NM_021061.5:c.*1448_*1449del, NM_021061.4:c.*1448_*1449del, NM_001109689.4:c.*1448_*1449del, NM_001109689.3:c.*1448_*1449del, NM_001363099.2:c.*1448_*1449del, NM_001363099.1:c.*1448_*1449del, NM_001363100.2:c.*1448_*1449del, NM_001363100.1:c.*1448_*1449del, NM_001363105.2:c.*1448_*1449del, NM_001363105.1:c.*1448_*1449del, NM_001363103.2:c.*1448_*1449del, NM_001363103.1:c.*1448_*1449del, NM_001363102.2:c.*1448_*1449del, NM_001363102.1:c.*1448_*1449del, NM_001363098.2:c.*1448_*1449del, NM_001363098.1:c.*1448_*1449del, NM_001363101.2:c.*1448_*1449del, NM_001363101.1:c.*1448_*1449del, NM_001363107.2:c.*1448_*1449del, NM_001363107.1:c.*1448_*1449del, NM_001363104.2:c.*1448_*1449del, NM_001363104.1:c.*1448_*1449del, NM_001363106.2:c.*1448_*1449del, NM_001363106.1:c.*1448_*1449del, XM_047422064.1:c.*1448_*1449del, XM_047422065.1:c.*1448_*1449del

Select item 149110560210.

rs1491105602 has merged into rs36073563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144888608 (GRCh38)
8:146113993 (GRCh37)
Canonical SPDI:: NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144888595:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144888608_144888620del, NC_000008.11:g.144888613_144888620del, NC_000008.11:g.144888614_144888620del, NC_000008.11:g.144888615_144888620del, NC_000008.11:g.144888617_144888620del, NC_000008.11:g.144888618_144888620del, NC_000008.11:g.144888619_144888620del, NC_000008.11:g.144888620del, NC_000008.11:g.144888620dup, NC_000008.11:g.144888619_144888620dup, NC_000008.11:g.144888618_144888620dup, NC_000008.11:g.144888617_144888620dup, NC_000008.11:g.144888615_144888620dup, NC_000008.11:g.144888596_144888620dup, NC_000008.10:g.146113993_146114005del, NC_000008.10:g.146113998_146114005del, NC_000008.10:g.146113999_146114005del, NC_000008.10:g.146114000_146114005del, NC_000008.10:g.146114002_146114005del, NC_000008.10:g.146114003_146114005del, NC_000008.10:g.146114004_146114005del, NC_000008.10:g.146114005del, NC_000008.10:g.146114005dup, NC_000008.10:g.146114004_146114005dup, NC_000008.10:g.146114003_146114005dup, NC_000008.10:g.146114002_146114005dup, NC_000008.10:g.146114000_146114005dup, NC_000008.10:g.146113981_146114005dup

Select item 149097533811.

rs1490975338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144895354 (GRCh38)
8:146120739 (GRCh37)
Canonical SPDI:: NC_000008.11:144895353:G:A
Gene:: ZNF250 (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_000008.11:g.144895354G>A, NC_000008.10:g.146120739G>A

Select item 149092143912.

rs1490921439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144878537 (GRCh38)
8:146103922 (GRCh37)
Canonical SPDI:: NC_000008.11:144878536:A:C
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144878537A>C, NC_000008.10:g.146103922A>C, NM_021061.5:c.*2978T>G, NM_021061.4:c.*2978T>G, NM_001109689.4:c.*2978T>G, NM_001109689.3:c.*2978T>G, NM_001363099.2:c.*2978T>G, NM_001363099.1:c.*2978T>G, NM_001363100.2:c.*2978T>G, NM_001363100.1:c.*2978T>G, NM_001363105.2:c.*2978T>G, NM_001363105.1:c.*2978T>G, NM_001363103.2:c.*2978T>G, NM_001363103.1:c.*2978T>G, NM_001363102.2:c.*2978T>G, NM_001363102.1:c.*2978T>G, NM_001363098.2:c.*2978T>G, NM_001363098.1:c.*2978T>G, NM_001363101.2:c.*2978T>G, NM_001363101.1:c.*2978T>G, NM_001363107.2:c.*2978T>G, NM_001363107.1:c.*2978T>G, NM_001363104.2:c.*2978T>G, NM_001363104.1:c.*2978T>G, NM_001363106.2:c.*2978T>G, NM_001363106.1:c.*2978T>G, XM_047422064.1:c.*2978T>G, XM_047422065.1:c.*2978T>G

Select item 149080007013.

rs1490800070 has merged into rs56677445 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144887257 (GRCh38)
8:146112642 (GRCh37)
Canonical SPDI:: NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.0229/13 (NorthernSweden)
-=0.3381/1693 (1000Genomes)
HGVS:: NC_000008.11:g.144887257_144887280del, NC_000008.11:g.144887260_144887280del, NC_000008.11:g.144887264_144887280del, NC_000008.11:g.144887265_144887280del, NC_000008.11:g.144887266_144887280del, NC_000008.11:g.144887267_144887280del, NC_000008.11:g.144887268_144887280del, NC_000008.11:g.144887269_144887280del, NC_000008.11:g.144887270_144887280del, NC_000008.11:g.144887271_144887280del, NC_000008.11:g.144887272_144887280del, NC_000008.11:g.144887273_144887280del, NC_000008.11:g.144887274_144887280del, NC_000008.11:g.144887275_144887280del, NC_000008.11:g.144887276_144887280del, NC_000008.11:g.144887277_144887280del, NC_000008.11:g.144887278_144887280del, NC_000008.11:g.144887279_144887280del, NC_000008.11:g.144887280del, NC_000008.11:g.144887280dup, NC_000008.11:g.144887279_144887280dup, NC_000008.11:g.144887278_144887280dup, NC_000008.11:g.144887277_144887280dup, NC_000008.11:g.144887276_144887280dup, NC_000008.11:g.144887275_144887280dup, NC_000008.11:g.144887274_144887280dup, NC_000008.11:g.144887273_144887280dup, NC_000008.11:g.144887272_144887280dup, NC_000008.11:g.144887271_144887280dup, NC_000008.11:g.144887270_144887280dup, NC_000008.11:g.144887269_144887280dup, NC_000008.11:g.144887268_144887280dup, NC_000008.11:g.144887267_144887280dup, NC_000008.11:g.144887266_144887280dup, NC_000008.11:g.144887265_144887280dup, NC_000008.11:g.144887264_144887280dup, NC_000008.11:g.144887263_144887280dup, NC_000008.11:g.144887262_144887280dup, NC_000008.11:g.144887261_144887280dup, NC_000008.11:g.144887260_144887280dup, NC_000008.11:g.144887256_144887280dup, NC_000008.10:g.146112642_146112665del, NC_000008.10:g.146112645_146112665del, NC_000008.10:g.146112649_146112665del, NC_000008.10:g.146112650_146112665del, NC_000008.10:g.146112651_146112665del, NC_000008.10:g.146112652_146112665del, NC_000008.10:g.146112653_146112665del, NC_000008.10:g.146112654_146112665del, NC_000008.10:g.146112655_146112665del, NC_000008.10:g.146112656_146112665del, NC_000008.10:g.146112657_146112665del, NC_000008.10:g.146112658_146112665del, NC_000008.10:g.146112659_146112665del, NC_000008.10:g.146112660_146112665del, NC_000008.10:g.146112661_146112665del, NC_000008.10:g.146112662_146112665del, NC_000008.10:g.146112663_146112665del, NC_000008.10:g.146112664_146112665del, NC_000008.10:g.146112665del, NC_000008.10:g.146112665dup, NC_000008.10:g.146112664_146112665dup, NC_000008.10:g.146112663_146112665dup, NC_000008.10:g.146112662_146112665dup, NC_000008.10:g.146112661_146112665dup, NC_000008.10:g.146112660_146112665dup, NC_000008.10:g.146112659_146112665dup, NC_000008.10:g.146112658_146112665dup, NC_000008.10:g.146112657_146112665dup, NC_000008.10:g.146112656_146112665dup, NC_000008.10:g.146112655_146112665dup, NC_000008.10:g.146112654_146112665dup, NC_000008.10:g.146112653_146112665dup, NC_000008.10:g.146112652_146112665dup, NC_000008.10:g.146112651_146112665dup, NC_000008.10:g.146112650_146112665dup, NC_000008.10:g.146112649_146112665dup, NC_000008.10:g.146112648_146112665dup, NC_000008.10:g.146112647_146112665dup, NC_000008.10:g.146112646_146112665dup, NC_000008.10:g.146112645_146112665dup, NC_000008.10:g.146112641_146112665dup

Select item 149077485314.

rs1490774853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144888315 (GRCh38)
8:146113700 (GRCh37)
Canonical SPDI:: NC_000008.11:144888314:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144888315G>A, NC_000008.10:g.146113700G>A

Select item 149074809915.

rs1490748099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144881355 (GRCh38)
8:146106740 (GRCh37)
Canonical SPDI:: NC_000008.11:144881354:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144881355G>A, NC_000008.10:g.146106740G>A, NM_021061.5:c.*160C>T, NM_021061.4:c.*160C>T, NM_001109689.4:c.*160C>T, NM_001109689.3:c.*160C>T, NM_001363099.2:c.*160C>T, NM_001363099.1:c.*160C>T, NM_001363100.2:c.*160C>T, NM_001363100.1:c.*160C>T, NM_001363105.2:c.*160C>T, NM_001363105.1:c.*160C>T, NM_001363103.2:c.*160C>T, NM_001363103.1:c.*160C>T, NM_001363102.2:c.*160C>T, NM_001363102.1:c.*160C>T, NM_001363098.2:c.*160C>T, NM_001363098.1:c.*160C>T, NM_001363101.2:c.*160C>T, NM_001363101.1:c.*160C>T, NM_001363107.2:c.*160C>T, NM_001363107.1:c.*160C>T, NM_001363104.2:c.*160C>T, NM_001363104.1:c.*160C>T, NM_001363106.2:c.*160C>T, NM_001363106.1:c.*160C>T, XM_047422064.1:c.*160C>T, XM_047422065.1:c.*160C>T

Select item 149068797716.

rs1490687977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144878876 (GRCh38)
8:146104261 (GRCh37)
Canonical SPDI:: NC_000008.11:144878875:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144878876G>A, NC_000008.10:g.146104261G>A, NM_021061.5:c.*2639C>T, NM_021061.4:c.*2639C>T, NM_001109689.4:c.*2639C>T, NM_001109689.3:c.*2639C>T, NM_001363099.2:c.*2639C>T, NM_001363099.1:c.*2639C>T, NM_001363100.2:c.*2639C>T, NM_001363100.1:c.*2639C>T, NM_001363105.2:c.*2639C>T, NM_001363105.1:c.*2639C>T, NM_001363103.2:c.*2639C>T, NM_001363103.1:c.*2639C>T, NM_001363102.2:c.*2639C>T, NM_001363102.1:c.*2639C>T, NM_001363098.2:c.*2639C>T, NM_001363098.1:c.*2639C>T, NM_001363101.2:c.*2639C>T, NM_001363101.1:c.*2639C>T, NM_001363107.2:c.*2639C>T, NM_001363107.1:c.*2639C>T, NM_001363104.2:c.*2639C>T, NM_001363104.1:c.*2639C>T, NM_001363106.2:c.*2639C>T, NM_001363106.1:c.*2639C>T, XM_047422064.1:c.*2639C>T, XM_047422065.1:c.*2639C>T

Select item 149066932817.

rs1490669328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144900564 (GRCh38)
8:146125949 (GRCh37)
Canonical SPDI:: NC_000008.11:144900563:A:C
Gene:: ZNF250 (Varview), LOC124902042 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144900564A>C, NC_000008.10:g.146125949A>C

Select item 149060543118.

rs1490605431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144902797 (GRCh38)
8:146128182 (GRCh37)
Canonical SPDI:: NC_000008.11:144902796:T:A
Gene:: ZNF250 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144902797T>A, NC_000008.10:g.146128182T>A

Select item 149056621819.

rs1490566218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144880481 (GRCh38)
8:146105866 (GRCh37)
Canonical SPDI:: NC_000008.11:144880480:T:C
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144880481T>C, NC_000008.10:g.146105866T>C, NM_021061.5:c.*1034A>G, NM_021061.4:c.*1034A>G, NM_001109689.4:c.*1034A>G, NM_001109689.3:c.*1034A>G, NM_001363099.2:c.*1034A>G, NM_001363099.1:c.*1034A>G, NM_001363100.2:c.*1034A>G, NM_001363100.1:c.*1034A>G, NM_001363105.2:c.*1034A>G, NM_001363105.1:c.*1034A>G, NM_001363103.2:c.*1034A>G, NM_001363103.1:c.*1034A>G, NM_001363102.2:c.*1034A>G, NM_001363102.1:c.*1034A>G, NM_001363098.2:c.*1034A>G, NM_001363098.1:c.*1034A>G, NM_001363101.2:c.*1034A>G, NM_001363101.1:c.*1034A>G, NM_001363107.2:c.*1034A>G, NM_001363107.1:c.*1034A>G, NM_001363104.2:c.*1034A>G, NM_001363104.1:c.*1034A>G, NM_001363106.2:c.*1034A>G, NM_001363106.1:c.*1034A>G, XM_047422064.1:c.*1034A>G, XM_047422065.1:c.*1034A>G

Select item 149042789320.

rs1490427893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144879008 (GRCh38)
8:146104393 (GRCh37)
Canonical SPDI:: NC_000008.11:144879007:C:A
Gene:: ZNF250 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.144879008C>A, NC_000008.10:g.146104393C>A, NM_021061.5:c.*2507G>T, NM_021061.4:c.*2507G>T, NM_001109689.4:c.*2507G>T, NM_001109689.3:c.*2507G>T, NM_001363099.2:c.*2507G>T, NM_001363099.1:c.*2507G>T, NM_001363100.2:c.*2507G>T, NM_001363100.1:c.*2507G>T, NM_001363105.2:c.*2507G>T, NM_001363105.1:c.*2507G>T, NM_001363103.2:c.*2507G>T, NM_001363103.1:c.*2507G>T, NM_001363102.2:c.*2507G>T, NM_001363102.1:c.*2507G>T, NM_001363098.2:c.*2507G>T, NM_001363098.1:c.*2507G>T, NM_001363101.2:c.*2507G>T, NM_001363101.1:c.*2507G>T, NM_001363107.2:c.*2507G>T, NM_001363107.1:c.*2507G>T, NM_001363104.2:c.*2507G>T, NM_001363104.1:c.*2507G>T, NM_001363106.2:c.*2507G>T, NM_001363106.1:c.*2507G>T, XM_047422064.1:c.*2507G>T, XM_047422065.1:c.*2507G>T

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