SNP Links for Gene (Select 147660) - SNP

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Select item 14915647231.

rs1491564723 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 19:52498330 (GRCh38)
19:53001584 (GRCh37)
Canonical SPDI:: NC_000019.10:52498330::A,NC_000019.10:52498330::G
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
A=0.00042/8 (GnomAD)
A=0.01031/6 (NorthernSweden)
HGVS:: NC_000019.10:g.52498330_52498331insA, NC_000019.10:g.52498330_52498331insG, NC_000019.9:g.53001583_53001584insA, NC_000019.9:g.53001583_53001584insG

Select item 14914536152.

rs1491453615 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACATA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATATA [Show Flanks]
Chromosome:: 19:52459770 (GRCh38)
19:52963024 (GRCh37)
Canonical SPDI:: NC_000019.10:52459770::A,NC_000019.10:52459770::ACATA,NC_000019.10:52459770::ATA,NC_000019.10:52459770::ATATA,NC_000019.10:52459770::ATATATA,NC_000019.10:52459770::ATATATATA,NC_000019.10:52459770::ATATATATATA,NC_000019.10:52459770::ATATATATATATATA
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.52459770_52459771insA, NC_000019.10:g.52459770_52459771insACATA, NC_000019.10:g.52459770_52459771insATA, NC_000019.10:g.52459770_52459771insATATA, NC_000019.10:g.52459770_52459771insATATATA, NC_000019.10:g.52459770_52459771insATATATATA, NC_000019.10:g.52459770_52459771insATATATATATA, NC_000019.10:g.52459770_52459771insATATATATATATATA, NC_000019.9:g.52963023_52963024insA, NC_000019.9:g.52963023_52963024insACATA, NC_000019.9:g.52963023_52963024insATA, NC_000019.9:g.52963023_52963024insATATA, NC_000019.9:g.52963023_52963024insATATATA, NC_000019.9:g.52963023_52963024insATATATATA, NC_000019.9:g.52963023_52963024insATATATATATA, NC_000019.9:g.52963023_52963024insATATATATATATATA

Select item 14914347363.

rs1491434736 has merged into rs35788845 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52514971 (GRCh38)
19:53018224 (GRCh37)
Canonical SPDI:: NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52514962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000053/14 (TOPMED)
HGVS:: NC_000019.10:g.52514971_52514980del, NC_000019.10:g.52514972_52514980del, NC_000019.10:g.52514973_52514980del, NC_000019.10:g.52514974_52514980del, NC_000019.10:g.52514975_52514980del, NC_000019.10:g.52514976_52514980del, NC_000019.10:g.52514978_52514980del, NC_000019.10:g.52514979_52514980del, NC_000019.10:g.52514980del, NC_000019.10:g.52514980dup, NC_000019.10:g.52514979_52514980dup, NC_000019.10:g.52514978_52514980dup, NC_000019.10:g.52514977_52514980dup, NC_000019.10:g.52514976_52514980dup, NC_000019.10:g.52514975_52514980dup, NC_000019.10:g.52514974_52514980dup, NC_000019.10:g.52514973_52514980dup, NC_000019.10:g.52514972_52514980dup, NC_000019.9:g.53018224_53018233del, NC_000019.9:g.53018225_53018233del, NC_000019.9:g.53018226_53018233del, NC_000019.9:g.53018227_53018233del, NC_000019.9:g.53018228_53018233del, NC_000019.9:g.53018229_53018233del, NC_000019.9:g.53018231_53018233del, NC_000019.9:g.53018232_53018233del, NC_000019.9:g.53018233del, NC_000019.9:g.53018233dup, NC_000019.9:g.53018232_53018233dup, NC_000019.9:g.53018231_53018233dup, NC_000019.9:g.53018230_53018233dup, NC_000019.9:g.53018229_53018233dup, NC_000019.9:g.53018228_53018233dup, NC_000019.9:g.53018227_53018233dup, NC_000019.9:g.53018226_53018233dup, NC_000019.9:g.53018225_53018233dup, NM_001099694.2:c.*2817_*2826del, NM_001099694.2:c.*2818_*2826del, NM_001099694.2:c.*2819_*2826del, NM_001099694.2:c.*2820_*2826del, NM_001099694.2:c.*2821_*2826del, NM_001099694.2:c.*2822_*2826del, NM_001099694.2:c.*2824_*2826del, NM_001099694.2:c.*2825_*2826del, NM_001099694.2:c.*2826del, NM_001099694.2:c.*2826dup, NM_001099694.2:c.*2825_*2826dup, NM_001099694.2:c.*2824_*2826dup, NM_001099694.2:c.*2823_*2826dup, NM_001099694.2:c.*2822_*2826dup, NM_001099694.2:c.*2821_*2826dup, NM_001099694.2:c.*2820_*2826dup, NM_001099694.2:c.*2819_*2826dup, NM_001099694.2:c.*2818_*2826dup, NM_001099694.1:c.*2817_*2826del, NM_001099694.1:c.*2818_*2826del, NM_001099694.1:c.*2819_*2826del, NM_001099694.1:c.*2820_*2826del, NM_001099694.1:c.*2821_*2826del, NM_001099694.1:c.*2822_*2826del, NM_001099694.1:c.*2824_*2826del, NM_001099694.1:c.*2825_*2826del, NM_001099694.1:c.*2826del, NM_001099694.1:c.*2826dup, NM_001099694.1:c.*2825_*2826dup, NM_001099694.1:c.*2824_*2826dup, NM_001099694.1:c.*2823_*2826dup, NM_001099694.1:c.*2822_*2826dup, NM_001099694.1:c.*2821_*2826dup, NM_001099694.1:c.*2820_*2826dup, NM_001099694.1:c.*2819_*2826dup, NM_001099694.1:c.*2818_*2826dup, NM_001366182.2:c.*2817_*2826del, NM_001366182.2:c.*2818_*2826del, NM_001366182.2:c.*2819_*2826del, NM_001366182.2:c.*2820_*2826del, NM_001366182.2:c.*2821_*2826del, NM_001366182.2:c.*2822_*2826del, NM_001366182.2:c.*2824_*2826del, NM_001366182.2:c.*2825_*2826del, NM_001366182.2:c.*2826del, NM_001366182.2:c.*2826dup, NM_001366182.2:c.*2825_*2826dup, NM_001366182.2:c.*2824_*2826dup, NM_001366182.2:c.*2823_*2826dup, NM_001366182.2:c.*2822_*2826dup, NM_001366182.2:c.*2821_*2826dup, NM_001366182.2:c.*2820_*2826dup, NM_001366182.2:c.*2819_*2826dup, NM_001366182.2:c.*2818_*2826dup, NM_001366182.1:c.*2817_*2826del, NM_001366182.1:c.*2818_*2826del, NM_001366182.1:c.*2819_*2826del, NM_001366182.1:c.*2820_*2826del, NM_001366182.1:c.*2821_*2826del, NM_001366182.1:c.*2822_*2826del, NM_001366182.1:c.*2824_*2826del, NM_001366182.1:c.*2825_*2826del, NM_001366182.1:c.*2826del, NM_001366182.1:c.*2826dup, NM_001366182.1:c.*2825_*2826dup, NM_001366182.1:c.*2824_*2826dup, NM_001366182.1:c.*2823_*2826dup, NM_001366182.1:c.*2822_*2826dup, NM_001366182.1:c.*2821_*2826dup, NM_001366182.1:c.*2820_*2826dup, NM_001366182.1:c.*2819_*2826dup, NM_001366182.1:c.*2818_*2826dup, XM_047438190.1:c.*2817_*2826del, XM_047438190.1:c.*2818_*2826del, XM_047438190.1:c.*2819_*2826del, XM_047438190.1:c.*2820_*2826del, XM_047438190.1:c.*2821_*2826del, XM_047438190.1:c.*2822_*2826del, XM_047438190.1:c.*2824_*2826del, XM_047438190.1:c.*2825_*2826del, XM_047438190.1:c.*2826del, XM_047438190.1:c.*2826dup, XM_047438190.1:c.*2825_*2826dup, XM_047438190.1:c.*2824_*2826dup, XM_047438190.1:c.*2823_*2826dup, XM_047438190.1:c.*2822_*2826dup, XM_047438190.1:c.*2821_*2826dup, XM_047438190.1:c.*2820_*2826dup, XM_047438190.1:c.*2819_*2826dup, XM_047438190.1:c.*2818_*2826dup, XM_047438192.1:c.*2817_*2826del, XM_047438192.1:c.*2818_*2826del, XM_047438192.1:c.*2819_*2826del, XM_047438192.1:c.*2820_*2826del, XM_047438192.1:c.*2821_*2826del, XM_047438192.1:c.*2822_*2826del, XM_047438192.1:c.*2824_*2826del, XM_047438192.1:c.*2825_*2826del, XM_047438192.1:c.*2826del, XM_047438192.1:c.*2826dup, XM_047438192.1:c.*2825_*2826dup, XM_047438192.1:c.*2824_*2826dup, XM_047438192.1:c.*2823_*2826dup, XM_047438192.1:c.*2822_*2826dup, XM_047438192.1:c.*2821_*2826dup, XM_047438192.1:c.*2820_*2826dup, XM_047438192.1:c.*2819_*2826dup, XM_047438192.1:c.*2818_*2826dup, XM_047438191.1:c.*2817_*2826del, XM_047438191.1:c.*2818_*2826del, XM_047438191.1:c.*2819_*2826del, XM_047438191.1:c.*2820_*2826del, XM_047438191.1:c.*2821_*2826del, XM_047438191.1:c.*2822_*2826del, XM_047438191.1:c.*2824_*2826del, XM_047438191.1:c.*2825_*2826del, XM_047438191.1:c.*2826del, XM_047438191.1:c.*2826dup, XM_047438191.1:c.*2825_*2826dup, XM_047438191.1:c.*2824_*2826dup, XM_047438191.1:c.*2823_*2826dup, XM_047438191.1:c.*2822_*2826dup, XM_047438191.1:c.*2821_*2826dup, XM_047438191.1:c.*2820_*2826dup, XM_047438191.1:c.*2819_*2826dup, XM_047438191.1:c.*2818_*2826dup, XM_047438189.1:c.*2817_*2826del, XM_047438189.1:c.*2818_*2826del, XM_047438189.1:c.*2819_*2826del, XM_047438189.1:c.*2820_*2826del, XM_047438189.1:c.*2821_*2826del, XM_047438189.1:c.*2822_*2826del, XM_047438189.1:c.*2824_*2826del, XM_047438189.1:c.*2825_*2826del, XM_047438189.1:c.*2826del, XM_047438189.1:c.*2826dup, XM_047438189.1:c.*2825_*2826dup, XM_047438189.1:c.*2824_*2826dup, XM_047438189.1:c.*2823_*2826dup, XM_047438189.1:c.*2822_*2826dup, XM_047438189.1:c.*2821_*2826dup, XM_047438189.1:c.*2820_*2826dup, XM_047438189.1:c.*2819_*2826dup, XM_047438189.1:c.*2818_*2826dup, XM_047438193.1:c.*2817_*2826del, XM_047438193.1:c.*2818_*2826del, XM_047438193.1:c.*2819_*2826del, XM_047438193.1:c.*2820_*2826del, XM_047438193.1:c.*2821_*2826del, XM_047438193.1:c.*2822_*2826del, XM_047438193.1:c.*2824_*2826del, XM_047438193.1:c.*2825_*2826del, XM_047438193.1:c.*2826del, XM_047438193.1:c.*2826dup, XM_047438193.1:c.*2825_*2826dup, XM_047438193.1:c.*2824_*2826dup, XM_047438193.1:c.*2823_*2826dup, XM_047438193.1:c.*2822_*2826dup, XM_047438193.1:c.*2821_*2826dup, XM_047438193.1:c.*2820_*2826dup, XM_047438193.1:c.*2819_*2826dup, XM_047438193.1:c.*2818_*2826dup, XM_047438194.1:c.*2817_*2826del, XM_047438194.1:c.*2818_*2826del, XM_047438194.1:c.*2819_*2826del, XM_047438194.1:c.*2820_*2826del, XM_047438194.1:c.*2821_*2826del, XM_047438194.1:c.*2822_*2826del, XM_047438194.1:c.*2824_*2826del, XM_047438194.1:c.*2825_*2826del, XM_047438194.1:c.*2826del, XM_047438194.1:c.*2826dup, XM_047438194.1:c.*2825_*2826dup, XM_047438194.1:c.*2824_*2826dup, XM_047438194.1:c.*2823_*2826dup, XM_047438194.1:c.*2822_*2826dup, XM_047438194.1:c.*2821_*2826dup, XM_047438194.1:c.*2820_*2826dup, XM_047438194.1:c.*2819_*2826dup, XM_047438194.1:c.*2818_*2826dup

Select item 14913967664.

rs1491396766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 19:52459644 (GRCh38)
19:52962898 (GRCh37)
Canonical SPDI:: NC_000019.10:52459644:A:ATA
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.000035/1 (TOMMO)
AT=0.000066/8 (GnomAD)
AT=0.002188/4 (Korea1K)
HGVS:: NC_000019.10:g.52459645_52459646insTA, NC_000019.9:g.52962898_52962899insTA

Select item 14913899165.

rs1491389916 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:52515387 (GRCh38)
19:53018640 (GRCh37)
Canonical SPDI:: NC_000019.10:52515386:GT:
Gene:: ZNF578 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.52515387_52515388del, NC_000019.9:g.53018640_53018641del, NM_001099694.2:c.*3233_*3234del, NM_001099694.1:c.*3233_*3234del, NM_001366182.2:c.*3233_*3234del, NM_001366182.1:c.*3233_*3234del, XM_047438190.1:c.*3233_*3234del, XM_047438192.1:c.*3233_*3234del, XM_047438191.1:c.*3233_*3234del, XM_047438189.1:c.*3233_*3234del, XM_047438193.1:c.*3233_*3234del, XM_047438194.1:c.*3233_*3234del

Select item 14913302396.

rs1491330239 has merged into rs10594903 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52500891 (GRCh38)
19:53004144 (GRCh37)
Canonical SPDI:: NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52500877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.52500891_52500896del, NC_000019.10:g.52500892_52500896del, NC_000019.10:g.52500893_52500896del, NC_000019.10:g.52500894_52500896del, NC_000019.10:g.52500895_52500896del, NC_000019.10:g.52500896del, NC_000019.10:g.52500896dup, NC_000019.10:g.52500889_52500896dup, NC_000019.9:g.53004144_53004149del, NC_000019.9:g.53004145_53004149del, NC_000019.9:g.53004146_53004149del, NC_000019.9:g.53004147_53004149del, NC_000019.9:g.53004148_53004149del, NC_000019.9:g.53004149del, NC_000019.9:g.53004149dup, NC_000019.9:g.53004142_53004149dup

Select item 14912602297.

rs1491260229 has merged into rs35598512 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 19:52508360 (GRCh38)
19:53011613 (GRCh37)
Canonical SPDI:: NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGA,NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGA,NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000019.10:52508352:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.003605/12 (1000Genomes)
AG=0.15/6 (GENOME_DK)
AG=0.207415/207 (GoNL)
AG=0.476528/873 (Korea1K)
HGVS:: NC_000019.10:g.52508354GA[3], NC_000019.10:g.52508354GA[4], NC_000019.10:g.52508354GA[5], NC_000019.10:g.52508354GA[7], NC_000019.10:g.52508354GA[8], NC_000019.9:g.53011607GA[3], NC_000019.9:g.53011607GA[4], NC_000019.9:g.53011607GA[5], NC_000019.9:g.53011607GA[7], NC_000019.9:g.53011607GA[8]

Select item 14912395568.

rs1491239556 has merged into rs58765518 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52498340 (GRCh38)
19:53001593 (GRCh37)
Canonical SPDI:: NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498329:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.4327/2167 (1000Genomes)
HGVS:: NC_000019.10:g.52498340_52498349del, NC_000019.10:g.52498343_52498349del, NC_000019.10:g.52498345_52498349del, NC_000019.10:g.52498346_52498349del, NC_000019.10:g.52498347_52498349del, NC_000019.10:g.52498348_52498349del, NC_000019.10:g.52498349del, NC_000019.10:g.52498349dup, NC_000019.10:g.52498348_52498349dup, NC_000019.10:g.52498347_52498349dup, NC_000019.10:g.52498346_52498349dup, NC_000019.10:g.52498345_52498349dup, NC_000019.10:g.52498344_52498349dup, NC_000019.10:g.52498342_52498349dup, NC_000019.9:g.53001593_53001602del, NC_000019.9:g.53001596_53001602del, NC_000019.9:g.53001598_53001602del, NC_000019.9:g.53001599_53001602del, NC_000019.9:g.53001600_53001602del, NC_000019.9:g.53001601_53001602del, NC_000019.9:g.53001602del, NC_000019.9:g.53001602dup, NC_000019.9:g.53001601_53001602dup, NC_000019.9:g.53001600_53001602dup, NC_000019.9:g.53001599_53001602dup, NC_000019.9:g.53001598_53001602dup, NC_000019.9:g.53001597_53001602dup, NC_000019.9:g.53001595_53001602dup

Select item 14912251129.

rs1491225112 has merged into rs1164629700 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52459781 (GRCh38)
19:52963034 (GRCh37)
Canonical SPDI:: NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52459769:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.04284/58 (Korea1K)
T=0.09794/1606 (TOMMO)
HGVS:: NC_000019.10:g.52459781_52459793del, NC_000019.10:g.52459782_52459793del, NC_000019.10:g.52459785_52459793del, NC_000019.10:g.52459786_52459793del, NC_000019.10:g.52459787_52459793del, NC_000019.10:g.52459788_52459793del, NC_000019.10:g.52459789_52459793del, NC_000019.10:g.52459790_52459793del, NC_000019.10:g.52459791_52459793del, NC_000019.10:g.52459792_52459793del, NC_000019.10:g.52459793del, NC_000019.10:g.52459793dup, NC_000019.10:g.52459792_52459793dup, NC_000019.10:g.52459791_52459793dup, NC_000019.10:g.52459790_52459793dup, NC_000019.10:g.52459789_52459793dup, NC_000019.10:g.52459788_52459793dup, NC_000019.10:g.52459787_52459793dup, NC_000019.10:g.52459786_52459793dup, NC_000019.10:g.52459785_52459793dup, NC_000019.10:g.52459784_52459793dup, NC_000019.10:g.52459783_52459793dup, NC_000019.9:g.52963034_52963046del, NC_000019.9:g.52963035_52963046del, NC_000019.9:g.52963038_52963046del, NC_000019.9:g.52963039_52963046del, NC_000019.9:g.52963040_52963046del, NC_000019.9:g.52963041_52963046del, NC_000019.9:g.52963042_52963046del, NC_000019.9:g.52963043_52963046del, NC_000019.9:g.52963044_52963046del, NC_000019.9:g.52963045_52963046del, NC_000019.9:g.52963046del, NC_000019.9:g.52963046dup, NC_000019.9:g.52963045_52963046dup, NC_000019.9:g.52963044_52963046dup, NC_000019.9:g.52963043_52963046dup, NC_000019.9:g.52963042_52963046dup, NC_000019.9:g.52963041_52963046dup, NC_000019.9:g.52963040_52963046dup, NC_000019.9:g.52963039_52963046dup, NC_000019.9:g.52963038_52963046dup, NC_000019.9:g.52963037_52963046dup, NC_000019.9:g.52963036_52963046dup

Select item 149120751310.

rs1491207513 has merged into rs1446967558 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 19:52487961 (GRCh38)
19:52991214 (GRCh37)
Canonical SPDI:: NC_000019.10:52487960:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52487960:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0006/10 (TOMMO)
HGVS:: NC_000019.10:g.52487971del, NC_000019.10:g.52487971dup, NC_000019.9:g.52991224del, NC_000019.9:g.52991224dup

Select item 149117613111.

rs1491176131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:52515387 (GRCh38)
19:53018641 (GRCh37)
Canonical SPDI:: NC_000019.10:52515387:TTTTTT:TTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.000162/3 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.52515393dup, NC_000019.9:g.53018646dup, NM_001099694.2:c.*3239dup, NM_001099694.1:c.*3239dup, NM_001366182.2:c.*3239dup, NM_001366182.1:c.*3239dup, XM_047438190.1:c.*3239dup, XM_047438192.1:c.*3239dup, XM_047438191.1:c.*3239dup, XM_047438189.1:c.*3239dup, XM_047438193.1:c.*3239dup, XM_047438194.1:c.*3239dup

Select item 149117217512.

rs1491172175 has merged into rs77721359 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:52491250 (GRCh38)
19:52994503 (GRCh37)
Canonical SPDI:: NC_000019.10:52491244:TGTGTGT:TGTGT
Gene:: ZNF578 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0.000071/1 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000037/5 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000019.10:g.52491246GT[2], NC_000019.9:g.52994499GT[2]

Select item 149107132313.

rs1491071323 has merged into rs72019256 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52498695 (GRCh38)
19:53001948 (GRCh37)
Canonical SPDI:: NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.474/2374 (1000Genomes)
HGVS:: NC_000019.10:g.52498695_52498701del, NC_000019.10:g.52498696_52498701del, NC_000019.10:g.52498698_52498701del, NC_000019.10:g.52498699_52498701del, NC_000019.10:g.52498700_52498701del, NC_000019.10:g.52498701del, NC_000019.10:g.52498701dup, NC_000019.10:g.52498700_52498701dup, NC_000019.10:g.52498699_52498701dup, NC_000019.10:g.52498698_52498701dup, NC_000019.10:g.52498697_52498701dup, NC_000019.10:g.52498696_52498701dup, NC_000019.10:g.52498695_52498701dup, NC_000019.10:g.52498694_52498701dup, NC_000019.10:g.52498693_52498701dup, NC_000019.10:g.52498692_52498701dup, NC_000019.10:g.52498691_52498701dup, NC_000019.10:g.52498690_52498701dup, NC_000019.10:g.52498689_52498701dup, NC_000019.10:g.52498688_52498701dup, NC_000019.10:g.52498687_52498701dup, NC_000019.10:g.52498686_52498701dup, NC_000019.10:g.52498685_52498701dup, NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53001948_53001954del, NC_000019.9:g.53001949_53001954del, NC_000019.9:g.53001951_53001954del, NC_000019.9:g.53001952_53001954del, NC_000019.9:g.53001953_53001954del, NC_000019.9:g.53001954del, NC_000019.9:g.53001954dup, NC_000019.9:g.53001953_53001954dup, NC_000019.9:g.53001952_53001954dup, NC_000019.9:g.53001951_53001954dup, NC_000019.9:g.53001950_53001954dup, NC_000019.9:g.53001949_53001954dup, NC_000019.9:g.53001948_53001954dup, NC_000019.9:g.53001947_53001954dup, NC_000019.9:g.53001946_53001954dup, NC_000019.9:g.53001945_53001954dup, NC_000019.9:g.53001944_53001954dup, NC_000019.9:g.53001943_53001954dup, NC_000019.9:g.53001942_53001954dup, NC_000019.9:g.53001941_53001954dup, NC_000019.9:g.53001940_53001954dup, NC_000019.9:g.53001939_53001954dup, NC_000019.9:g.53001938_53001954dup, NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTTT

Select item 149105333214.

rs1491053332 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:52480927 (GRCh38)
19:52984180 (GRCh37)
Canonical SPDI:: NC_000019.10:52480926:AA:
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52480927_52480928del, NC_000019.9:g.52984180_52984181del

Select item 149104713215.

rs1491047132 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:52469181 (GRCh38)
19:52972434 (GRCh37)
Canonical SPDI:: NC_000019.10:52469180:GA:
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00451/19 (ALFA)
-=0.00078/13 (TOMMO)
HGVS:: NC_000019.10:g.52469181_52469182del, NC_000019.9:g.52972434_52972435del

Select item 149101552416.

rs1491015524 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 19:52500879 (GRCh38)
19:53004133 (GRCh37)
Canonical SPDI:: NC_000019.10:52500879::AA
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AA=0.166/67 (GnomAD)
HGVS:: NC_000019.10:g.52500879_52500880insAA, NC_000019.9:g.53004132_53004133insAA

Select item 149096452717.

rs1490964527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52500581 (GRCh38)
19:53003834 (GRCh37)
Canonical SPDI:: NC_000019.10:52500580:C:T
Gene:: ZNF578 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52500581C>T, NC_000019.9:g.53003834C>T

Select item 149091583518.

rs1490915835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52489125 (GRCh38)
19:52992378 (GRCh37)
Canonical SPDI:: NC_000019.10:52489124:C:T
Gene:: ZNF578 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.52489125C>T, NC_000019.9:g.52992378C>T

Select item 149084696719.

rs1490846967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:52489850 (GRCh38)
19:52993103 (GRCh37)
Canonical SPDI:: NC_000019.10:52489849:G:T
Gene:: ZNF578 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52489850G>T, NC_000019.9:g.52993103G>T

Select item 149083587820.

rs1490835878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52488541 (GRCh38)
19:52991794 (GRCh37)
Canonical SPDI:: NC_000019.10:52488540:G:A
Gene:: ZNF578 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000065/9 (GnomAD)
HGVS:: NC_000019.10:g.52488541G>A, NC_000019.9:g.52991794G>A

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