SNP Links for Nucleotide (Select 1199701095) - SNP

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Select item 14915719011.

rs1491571901 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:9445450 (GRCh38)
19:9556126 (GRCh37)
Canonical SPDI:: NC_000019.10:9445449:AT:
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000019.10:g.9445450_9445451del, NC_000019.9:g.9556126_9556127del, NG_054924.1:g.66242_66243del

Select item 14915410642.

rs1491541064 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:9507270 (GRCh38)
19:9617947 (GRCh37)
Canonical SPDI:: NC_000019.10:9507270::A
Gene:: ZNF560 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000796/13 (ALFA)
A=0.005273/88 (TOMMO)
A=0.013041/1609 (GnomAD)
HGVS:: NC_000019.10:g.9507270_9507271insA, NC_000019.9:g.9617946_9617947insA, NG_054924.1:g.4422_4423insT

Select item 14915335143.

rs1491533514 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:9500395 (GRCh38)
19:9611072 (GRCh37)
Canonical SPDI:: NC_000019.10:9500395::C
Gene:: ZNF560 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000027/1 (GnomAD)
HGVS:: NC_000019.10:g.9500395_9500396insC, NC_000019.9:g.9611071_9611072insC, NG_054924.1:g.11297_11298insG

Select item 14915194654.

rs1491519465 has merged into rs35450965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:9474836 (GRCh38)
19:9585512 (GRCh37)
Canonical SPDI:: NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9474823:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0038/14 (TWINSUK)
-=0.0067/26 (ALSPAC)
HGVS:: NC_000019.10:g.9474836_9474847del, NC_000019.10:g.9474837_9474847del, NC_000019.10:g.9474838_9474847del, NC_000019.10:g.9474839_9474847del, NC_000019.10:g.9474840_9474847del, NC_000019.10:g.9474841_9474847del, NC_000019.10:g.9474842_9474847del, NC_000019.10:g.9474843_9474847del, NC_000019.10:g.9474844_9474847del, NC_000019.10:g.9474845_9474847del, NC_000019.10:g.9474846_9474847del, NC_000019.10:g.9474847del, NC_000019.10:g.9474847dup, NC_000019.10:g.9474846_9474847dup, NC_000019.10:g.9474845_9474847dup, NC_000019.10:g.9474844_9474847dup, NC_000019.10:g.9474843_9474847dup, NC_000019.10:g.9474842_9474847dup, NC_000019.10:g.9474841_9474847dup, NC_000019.10:g.9474840_9474847dup, NC_000019.10:g.9474838_9474847dup, NC_000019.10:g.9474837_9474847dup, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9474847_9474848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585512_9585523del, NC_000019.9:g.9585513_9585523del, NC_000019.9:g.9585514_9585523del, NC_000019.9:g.9585515_9585523del, NC_000019.9:g.9585516_9585523del, NC_000019.9:g.9585517_9585523del, NC_000019.9:g.9585518_9585523del, NC_000019.9:g.9585519_9585523del, NC_000019.9:g.9585520_9585523del, NC_000019.9:g.9585521_9585523del, NC_000019.9:g.9585522_9585523del, NC_000019.9:g.9585523del, NC_000019.9:g.9585523dup, NC_000019.9:g.9585522_9585523dup, NC_000019.9:g.9585521_9585523dup, NC_000019.9:g.9585520_9585523dup, NC_000019.9:g.9585519_9585523dup, NC_000019.9:g.9585518_9585523dup, NC_000019.9:g.9585517_9585523dup, NC_000019.9:g.9585516_9585523dup, NC_000019.9:g.9585514_9585523dup, NC_000019.9:g.9585513_9585523dup, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9585523_9585524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054924.1:g.36858_36869del, NG_054924.1:g.36859_36869del, NG_054924.1:g.36860_36869del, NG_054924.1:g.36861_36869del, NG_054924.1:g.36862_36869del, NG_054924.1:g.36863_36869del, NG_054924.1:g.36864_36869del, NG_054924.1:g.36865_36869del, NG_054924.1:g.36866_36869del, NG_054924.1:g.36867_36869del, NG_054924.1:g.36868_36869del, NG_054924.1:g.36869del, NG_054924.1:g.36869dup, NG_054924.1:g.36868_36869dup, NG_054924.1:g.36867_36869dup, NG_054924.1:g.36866_36869dup, NG_054924.1:g.36865_36869dup, NG_054924.1:g.36864_36869dup, NG_054924.1:g.36863_36869dup, NG_054924.1:g.36862_36869dup, NG_054924.1:g.36860_36869dup, NG_054924.1:g.36859_36869dup, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_054924.1:g.36869_36870insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915126935.

rs1491512693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCACACACACAC [Show Flanks]
Chromosome:: 19:9446366 (GRCh38)
19:9557043 (GRCh37)
Canonical SPDI:: NC_000019.10:9446366:CACACACACAC:CACACACACACTCACACACACAC
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACTCACACACACAC=0./0 (ALFA)
CACACACACACT=0.00046/1 (GnomAD)
HGVS:: NC_000019.10:g.9446367_9446377CA[5]CTCACACACACAC[1], NC_000019.9:g.9557043_9557053CA[5]CTCACACACACAC[1], NG_054924.1:g.65316_65326GT[5]GAGTGTGTGTGTG[1]

Select item 14914629206.

rs1491462920 has merged into rs767714516 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:9500403 (GRCh38)
19:9611079 (GRCh37)
Canonical SPDI:: NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9500394:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF560 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000019.10:g.9500403_9500413del, NC_000019.10:g.9500404_9500413del, NC_000019.10:g.9500408_9500413del, NC_000019.10:g.9500409_9500413del, NC_000019.10:g.9500410_9500413del, NC_000019.10:g.9500411_9500413del, NC_000019.10:g.9500412_9500413del, NC_000019.10:g.9500413del, NC_000019.10:g.9500413dup, NC_000019.10:g.9500412_9500413dup, NC_000019.10:g.9500411_9500413dup, NC_000019.10:g.9500410_9500413dup, NC_000019.10:g.9500409_9500413dup, NC_000019.10:g.9500408_9500413dup, NC_000019.10:g.9500405_9500413dup, NC_000019.10:g.9500401_9500413dup, NC_000019.9:g.9611079_9611089del, NC_000019.9:g.9611080_9611089del, NC_000019.9:g.9611084_9611089del, NC_000019.9:g.9611085_9611089del, NC_000019.9:g.9611086_9611089del, NC_000019.9:g.9611087_9611089del, NC_000019.9:g.9611088_9611089del, NC_000019.9:g.9611089del, NC_000019.9:g.9611089dup, NC_000019.9:g.9611088_9611089dup, NC_000019.9:g.9611087_9611089dup, NC_000019.9:g.9611086_9611089dup, NC_000019.9:g.9611085_9611089dup, NC_000019.9:g.9611084_9611089dup, NC_000019.9:g.9611081_9611089dup, NC_000019.9:g.9611077_9611089dup, NG_054924.1:g.11288_11298del, NG_054924.1:g.11289_11298del, NG_054924.1:g.11293_11298del, NG_054924.1:g.11294_11298del, NG_054924.1:g.11295_11298del, NG_054924.1:g.11296_11298del, NG_054924.1:g.11297_11298del, NG_054924.1:g.11298del, NG_054924.1:g.11298dup, NG_054924.1:g.11297_11298dup, NG_054924.1:g.11296_11298dup, NG_054924.1:g.11295_11298dup, NG_054924.1:g.11294_11298dup, NG_054924.1:g.11293_11298dup, NG_054924.1:g.11290_11298dup, NG_054924.1:g.11286_11298dup

Select item 14912778887.

rs1491277888 has merged into rs58468618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:9497545 (GRCh38)
19:9608221 (GRCh37)
Canonical SPDI:: NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9497534:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.9497545_9497556del, NC_000019.10:g.9497546_9497556del, NC_000019.10:g.9497550_9497556del, NC_000019.10:g.9497551_9497556del, NC_000019.10:g.9497552_9497556del, NC_000019.10:g.9497553_9497556del, NC_000019.10:g.9497554_9497556del, NC_000019.10:g.9497555_9497556del, NC_000019.10:g.9497556del, NC_000019.10:g.9497556dup, NC_000019.10:g.9497555_9497556dup, NC_000019.10:g.9497554_9497556dup, NC_000019.10:g.9497553_9497556dup, NC_000019.10:g.9497550_9497556dup, NC_000019.10:g.9497549_9497556dup, NC_000019.9:g.9608221_9608232del, NC_000019.9:g.9608222_9608232del, NC_000019.9:g.9608226_9608232del, NC_000019.9:g.9608227_9608232del, NC_000019.9:g.9608228_9608232del, NC_000019.9:g.9608229_9608232del, NC_000019.9:g.9608230_9608232del, NC_000019.9:g.9608231_9608232del, NC_000019.9:g.9608232del, NC_000019.9:g.9608232dup, NC_000019.9:g.9608231_9608232dup, NC_000019.9:g.9608230_9608232dup, NC_000019.9:g.9608229_9608232dup, NC_000019.9:g.9608226_9608232dup, NC_000019.9:g.9608225_9608232dup, NG_054924.1:g.14147_14158del, NG_054924.1:g.14148_14158del, NG_054924.1:g.14152_14158del, NG_054924.1:g.14153_14158del, NG_054924.1:g.14154_14158del, NG_054924.1:g.14155_14158del, NG_054924.1:g.14156_14158del, NG_054924.1:g.14157_14158del, NG_054924.1:g.14158del, NG_054924.1:g.14158dup, NG_054924.1:g.14157_14158dup, NG_054924.1:g.14156_14158dup, NG_054924.1:g.14155_14158dup, NG_054924.1:g.14152_14158dup, NG_054924.1:g.14151_14158dup

Select item 14912576788.

rs1491257678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:9507271 (GRCh38)
19:9617947 (GRCh37)
Canonical SPDI:: NC_000019.10:9507269:TGT:T
Gene:: ZNF560 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.040803/484 (ALFA)
-=0.000035/1 (TOMMO)
-=0.05261/7232 (GnomAD)
-=0.057152/366 (1000Genomes)
HGVS:: NC_000019.10:g.9507271_9507272del, NC_000019.9:g.9617947_9617948del, NG_054924.1:g.4422_4423del

Select item 14912398899.

rs1491239889 has merged into rs201310250 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:9445460 (GRCh38)
19:9556136 (GRCh37)
Canonical SPDI:: NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9445450:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TT=0.3626/1816 (1000Genomes)
HGVS:: NC_000019.10:g.9445460_9445468del, NC_000019.10:g.9445461_9445468del, NC_000019.10:g.9445462_9445468del, NC_000019.10:g.9445463_9445468del, NC_000019.10:g.9445464_9445468del, NC_000019.10:g.9445465_9445468del, NC_000019.10:g.9445466_9445468del, NC_000019.10:g.9445467_9445468del, NC_000019.10:g.9445468del, NC_000019.10:g.9445468dup, NC_000019.10:g.9445467_9445468dup, NC_000019.10:g.9445466_9445468dup, NC_000019.10:g.9445457_9445468dup, NC_000019.9:g.9556136_9556144del, NC_000019.9:g.9556137_9556144del, NC_000019.9:g.9556138_9556144del, NC_000019.9:g.9556139_9556144del, NC_000019.9:g.9556140_9556144del, NC_000019.9:g.9556141_9556144del, NC_000019.9:g.9556142_9556144del, NC_000019.9:g.9556143_9556144del, NC_000019.9:g.9556144del, NC_000019.9:g.9556144dup, NC_000019.9:g.9556143_9556144dup, NC_000019.9:g.9556142_9556144dup, NC_000019.9:g.9556133_9556144dup, NG_054924.1:g.66234_66242del, NG_054924.1:g.66235_66242del, NG_054924.1:g.66236_66242del, NG_054924.1:g.66237_66242del, NG_054924.1:g.66238_66242del, NG_054924.1:g.66239_66242del, NG_054924.1:g.66240_66242del, NG_054924.1:g.66241_66242del, NG_054924.1:g.66242del, NG_054924.1:g.66242dup, NG_054924.1:g.66241_66242dup, NG_054924.1:g.66240_66242dup, NG_054924.1:g.66231_66242dup

Select item 149122587010.

rs1491225870 has merged into rs538986739 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 19:9466362 (GRCh38)
19:9577038 (GRCh37)
Canonical SPDI:: NC_000019.10:9466354:AGAGAGAGAGA:AGAGAGA,NC_000019.10:9466354:AGAGAGAGAGA:AGAGAGAGA,NC_000019.10:9466354:AGAGAGAGAGA:AGAGAGAGAGAGA
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
AG=0.000008/2 (TOPMED)
-=0.006004/11 (Korea1K)
HGVS:: NC_000019.10:g.9466356GA[3], NC_000019.10:g.9466356GA[4], NC_000019.10:g.9466356GA[6], NC_000019.9:g.9577032GA[3], NC_000019.9:g.9577032GA[4], NC_000019.9:g.9577032GA[6], NG_054924.1:g.45329CT[3], NG_054924.1:g.45329CT[4], NG_054924.1:g.45329CT[6], NM_152476.3:c.*210CT[3], NM_152476.3:c.*210CT[4], NM_152476.3:c.*210CT[6], NM_152476.2:c.*210CT[3], NM_152476.2:c.*210CT[4], NM_152476.2:c.*210CT[6], NM_001351678.2:c.*210CT[3], NM_001351678.2:c.*210CT[4], NM_001351678.2:c.*210CT[6], NM_001351678.1:c.*210CT[3], NM_001351678.1:c.*210CT[4], NM_001351678.1:c.*210CT[6], XM_011527697.3:c.*210CT[3], XM_011527697.3:c.*210CT[4], XM_011527697.3:c.*210CT[6], XM_011527697.1:c.*210CT[3], XM_011527697.1:c.*210CT[4], XM_011527697.1:c.*210CT[6], XM_011527696.3:c.*210CT[3], XM_011527696.3:c.*210CT[4], XM_011527696.3:c.*210CT[6], XM_011527696.1:c.*210CT[3], XM_011527696.1:c.*210CT[4], XM_011527696.1:c.*210CT[6]

Select item 149122496211.

rs1491224962 has merged into rs60806361 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:9481096 (GRCh38)
19:9591772 (GRCh37)
Canonical SPDI:: NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9481082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.363/1818 (1000Genomes)
HGVS:: NC_000019.10:g.9481096_9481099del, NC_000019.10:g.9481097_9481099del, NC_000019.10:g.9481098_9481099del, NC_000019.10:g.9481099del, NC_000019.10:g.9481099dup, NC_000019.10:g.9481098_9481099dup, NC_000019.10:g.9481097_9481099dup, NC_000019.9:g.9591772_9591775del, NC_000019.9:g.9591773_9591775del, NC_000019.9:g.9591774_9591775del, NC_000019.9:g.9591775del, NC_000019.9:g.9591775dup, NC_000019.9:g.9591774_9591775dup, NC_000019.9:g.9591773_9591775dup, NG_054924.1:g.30607_30610del, NG_054924.1:g.30608_30610del, NG_054924.1:g.30609_30610del, NG_054924.1:g.30610del, NG_054924.1:g.30610dup, NG_054924.1:g.30609_30610dup, NG_054924.1:g.30608_30610dup

Select item 149118498312.

rs1491184983 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:9497534 (GRCh38)
19:9608210 (GRCh37)
Canonical SPDI:: NC_000019.10:9497533:CA:
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.9497534_9497535del, NC_000019.9:g.9608210_9608211del, NG_054924.1:g.14158_14159del

Select item 149117963413.

rs1491179634 has merged into rs6146464 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:9446383 (GRCh38)
19:9557059 (GRCh37)
Canonical SPDI:: NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:9446365:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
ACACACACACACACAC=0.325/13 (GENOME_DK)
HGVS:: NC_000019.10:g.9446367CA[8], NC_000019.10:g.9446367CA[9], NC_000019.10:g.9446367CA[10], NC_000019.10:g.9446367CA[11], NC_000019.10:g.9446367CA[12], NC_000019.10:g.9446367CA[13], NC_000019.10:g.9446367CA[14], NC_000019.10:g.9446367CA[15], NC_000019.10:g.9446367CA[16], NC_000019.10:g.9446367CA[17], NC_000019.10:g.9446367CA[18], NC_000019.10:g.9446367CA[19], NC_000019.10:g.9446367CA[20], NC_000019.10:g.9446367CA[22], NC_000019.10:g.9446367CA[23], NC_000019.10:g.9446367CA[24], NC_000019.10:g.9446367CA[25], NC_000019.10:g.9446367CA[26], NC_000019.10:g.9446367CA[27], NC_000019.10:g.9446367CA[28], NC_000019.10:g.9446367CA[29], NC_000019.10:g.9446367CA[30], NC_000019.10:g.9446367CA[31], NC_000019.10:g.9446367CA[32], NC_000019.10:g.9446367CA[33], NC_000019.10:g.9446367CA[34], NC_000019.9:g.9557043CA[8], NC_000019.9:g.9557043CA[9], NC_000019.9:g.9557043CA[10], NC_000019.9:g.9557043CA[11], NC_000019.9:g.9557043CA[12], NC_000019.9:g.9557043CA[13], NC_000019.9:g.9557043CA[14], NC_000019.9:g.9557043CA[15], NC_000019.9:g.9557043CA[16], NC_000019.9:g.9557043CA[17], NC_000019.9:g.9557043CA[18], NC_000019.9:g.9557043CA[19], NC_000019.9:g.9557043CA[20], NC_000019.9:g.9557043CA[22], NC_000019.9:g.9557043CA[23], NC_000019.9:g.9557043CA[24], NC_000019.9:g.9557043CA[25], NC_000019.9:g.9557043CA[26], NC_000019.9:g.9557043CA[27], NC_000019.9:g.9557043CA[28], NC_000019.9:g.9557043CA[29], NC_000019.9:g.9557043CA[30], NC_000019.9:g.9557043CA[31], NC_000019.9:g.9557043CA[32], NC_000019.9:g.9557043CA[33], NC_000019.9:g.9557043CA[34], NG_054924.1:g.65286GT[8], NG_054924.1:g.65286GT[9], NG_054924.1:g.65286GT[10], NG_054924.1:g.65286GT[11], NG_054924.1:g.65286GT[12], NG_054924.1:g.65286GT[13], NG_054924.1:g.65286GT[14], NG_054924.1:g.65286GT[15], NG_054924.1:g.65286GT[16], NG_054924.1:g.65286GT[17], NG_054924.1:g.65286GT[18], NG_054924.1:g.65286GT[19], NG_054924.1:g.65286GT[20], NG_054924.1:g.65286GT[22], NG_054924.1:g.65286GT[23], NG_054924.1:g.65286GT[24], NG_054924.1:g.65286GT[25], NG_054924.1:g.65286GT[26], NG_054924.1:g.65286GT[27], NG_054924.1:g.65286GT[28], NG_054924.1:g.65286GT[29], NG_054924.1:g.65286GT[30], NG_054924.1:g.65286GT[31], NG_054924.1:g.65286GT[32], NG_054924.1:g.65286GT[33], NG_054924.1:g.65286GT[34]

Select item 149113398414.

rs1491133984 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:9474824 (GRCh38)
19:9585501 (GRCh37)
Canonical SPDI:: NC_000019.10:9474824:T:TAT
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00068/11 (TOMMO)
HGVS:: NC_000019.10:g.9474825_9474826insAT, NC_000019.9:g.9585501_9585502insAT, NG_054924.1:g.36868_36869insTA

Select item 149104575615.

rs1491045756 has merged into rs35963366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:9448410 (GRCh38)
19:9559086 (GRCh37)
Canonical SPDI:: NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9448395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.4794/2401 (1000Genomes)
HGVS:: NC_000019.10:g.9448410_9448415del, NC_000019.10:g.9448411_9448415del, NC_000019.10:g.9448412_9448415del, NC_000019.10:g.9448413_9448415del, NC_000019.10:g.9448414_9448415del, NC_000019.10:g.9448415del, NC_000019.10:g.9448415dup, NC_000019.10:g.9448414_9448415dup, NC_000019.10:g.9448413_9448415dup, NC_000019.10:g.9448412_9448415dup, NC_000019.10:g.9448411_9448415dup, NC_000019.10:g.9448410_9448415dup, NC_000019.10:g.9448409_9448415dup, NC_000019.10:g.9448408_9448415dup, NC_000019.10:g.9448407_9448415dup, NC_000019.10:g.9448404_9448415dup, NC_000019.9:g.9559086_9559091del, NC_000019.9:g.9559087_9559091del, NC_000019.9:g.9559088_9559091del, NC_000019.9:g.9559089_9559091del, NC_000019.9:g.9559090_9559091del, NC_000019.9:g.9559091del, NC_000019.9:g.9559091dup, NC_000019.9:g.9559090_9559091dup, NC_000019.9:g.9559089_9559091dup, NC_000019.9:g.9559088_9559091dup, NC_000019.9:g.9559087_9559091dup, NC_000019.9:g.9559086_9559091dup, NC_000019.9:g.9559085_9559091dup, NC_000019.9:g.9559084_9559091dup, NC_000019.9:g.9559083_9559091dup, NC_000019.9:g.9559080_9559091dup, NG_054924.1:g.63292_63297del, NG_054924.1:g.63293_63297del, NG_054924.1:g.63294_63297del, NG_054924.1:g.63295_63297del, NG_054924.1:g.63296_63297del, NG_054924.1:g.63297del, NG_054924.1:g.63297dup, NG_054924.1:g.63296_63297dup, NG_054924.1:g.63295_63297dup, NG_054924.1:g.63294_63297dup, NG_054924.1:g.63293_63297dup, NG_054924.1:g.63292_63297dup, NG_054924.1:g.63291_63297dup, NG_054924.1:g.63290_63297dup, NG_054924.1:g.63289_63297dup, NG_054924.1:g.63286_63297dup

Select item 149103312316.

rs1491033123 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:9444693 (GRCh38)
19:9555370 (GRCh37)
Canonical SPDI:: NC_000019.10:9444693::C
Gene:: LOC105372269 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.9444693_9444694insC, NC_000019.9:g.9555369_9555370insC, NG_054924.1:g.66999_67000insG

Select item 149102683617.

rs1491026836 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:9500414 (GRCh38)
19:9611090 (GRCh37)
Canonical SPDI:: NC_000019.10:9500412:AGA:A
Gene:: ZNF560 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.9500414_9500415del, NC_000019.9:g.9611090_9611091del, NG_054924.1:g.11279_11280del

Select item 149102676218.

rs1491026762 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:9474849 (GRCh38)
19:9585525 (GRCh37)
Canonical SPDI:: NC_000019.10:9474846:TGTG:TG
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
HGVS:: NC_000019.10:g.9474847TG[1], NC_000019.9:g.9585523TG[1], NG_054924.1:g.36843CA[1]

Select item 149100758419.

rs1491007584 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:9506414 (GRCh38)
19:9617090 (GRCh37)
Canonical SPDI:: NC_000019.10:9506412:TGT:T
Gene:: ZNF560 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/1 (GnomAD)
HGVS:: NC_000019.10:g.9506414_9506415del, NC_000019.9:g.9617090_9617091del, NG_054924.1:g.5279_5280del

Select item 149093387120.

rs1490933871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9456435 (GRCh38)
19:9567111 (GRCh37)
Canonical SPDI:: NC_000019.10:9456434:T:C
Gene:: ZNF560 (Varview), LOC105372269 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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.9456435T>C, NC_000019.9:g.9567111T>C, NG_054924.1:g.55258A>G, XR_007067133.1:n.2217T>C

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