SNP Links for Gene (Select 55245) - SNP

Links from Gene

Items: 1 to 20 of 23402

<< First< Prev

Page of 1171

Next >Last >>

Select item 14915526031.

rs1491552603 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:35399925 (GRCh38)
20:33987728 (GRCh37)
Canonical SPDI:: NC_000020.11:35399924:CT:
Gene:: UQCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.35399925_35399926del, NC_000020.10:g.33987728_33987729del, NG_021421.1:g.17217_17218del

Select item 14915468212.

rs1491546821 has merged into rs1227064253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:35399936 (GRCh38)
20:33987739 (GRCh37)
Canonical SPDI:: NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35399936_35399943del, NC_000020.11:g.35399939_35399943del, NC_000020.11:g.35399940_35399943del, NC_000020.11:g.35399941_35399943del, NC_000020.11:g.35399942_35399943del, NC_000020.11:g.35399943del, NC_000020.11:g.35399943dup, NC_000020.11:g.35399942_35399943dup, NC_000020.11:g.35399941_35399943dup, NC_000020.11:g.35399940_35399943dup, NC_000020.11:g.35399939_35399943dup, NC_000020.10:g.33987739_33987746del, NC_000020.10:g.33987742_33987746del, NC_000020.10:g.33987743_33987746del, NC_000020.10:g.33987744_33987746del, NC_000020.10:g.33987745_33987746del, NC_000020.10:g.33987746del, NC_000020.10:g.33987746dup, NC_000020.10:g.33987745_33987746dup, NC_000020.10:g.33987744_33987746dup, NC_000020.10:g.33987743_33987746dup, NC_000020.10:g.33987742_33987746dup, NG_021421.1:g.17210_17217del, NG_021421.1:g.17213_17217del, NG_021421.1:g.17214_17217del, NG_021421.1:g.17215_17217del, NG_021421.1:g.17216_17217del, NG_021421.1:g.17217del, NG_021421.1:g.17217dup, NG_021421.1:g.17216_17217dup, NG_021421.1:g.17215_17217dup, NG_021421.1:g.17214_17217dup, NG_021421.1:g.17213_17217dup

Select item 14915405083.

rs1491540508 has merged into rs1182863735 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35313384 (GRCh38)
20:33901187 (GRCh37)
Canonical SPDI:: NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35313374:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35313384_35313399del, NC_000020.11:g.35313385_35313399del, NC_000020.11:g.35313386_35313399del, NC_000020.11:g.35313387_35313399del, NC_000020.11:g.35313388_35313399del, NC_000020.11:g.35313389_35313399del, NC_000020.11:g.35313390_35313399del, NC_000020.11:g.35313392_35313399del, NC_000020.11:g.35313394_35313399del, NC_000020.11:g.35313395_35313399del, NC_000020.11:g.35313396_35313399del, NC_000020.11:g.35313397_35313399del, NC_000020.11:g.35313398_35313399del, NC_000020.11:g.35313399del, NC_000020.11:g.35313399dup, NC_000020.11:g.35313398_35313399dup, NC_000020.11:g.35313397_35313399dup, NC_000020.11:g.35313396_35313399dup, NC_000020.11:g.35313395_35313399dup, NC_000020.11:g.35313394_35313399dup, NC_000020.10:g.33901187_33901202del, NC_000020.10:g.33901188_33901202del, NC_000020.10:g.33901189_33901202del, NC_000020.10:g.33901190_33901202del, NC_000020.10:g.33901191_33901202del, NC_000020.10:g.33901192_33901202del, NC_000020.10:g.33901193_33901202del, NC_000020.10:g.33901195_33901202del, NC_000020.10:g.33901197_33901202del, NC_000020.10:g.33901198_33901202del, NC_000020.10:g.33901199_33901202del, NC_000020.10:g.33901200_33901202del, NC_000020.10:g.33901201_33901202del, NC_000020.10:g.33901202del, NC_000020.10:g.33901202dup, NC_000020.10:g.33901201_33901202dup, NC_000020.10:g.33901200_33901202dup, NC_000020.10:g.33901199_33901202dup, NC_000020.10:g.33901198_33901202dup, NC_000020.10:g.33901197_33901202dup, NG_021421.1:g.103753_103768del, NG_021421.1:g.103754_103768del, NG_021421.1:g.103755_103768del, NG_021421.1:g.103756_103768del, NG_021421.1:g.103757_103768del, NG_021421.1:g.103758_103768del, NG_021421.1:g.103759_103768del, NG_021421.1:g.103761_103768del, NG_021421.1:g.103763_103768del, NG_021421.1:g.103764_103768del, NG_021421.1:g.103765_103768del, NG_021421.1:g.103766_103768del, NG_021421.1:g.103767_103768del, NG_021421.1:g.103768del, NG_021421.1:g.103768dup, NG_021421.1:g.103767_103768dup, NG_021421.1:g.103766_103768dup, NG_021421.1:g.103765_103768dup, NG_021421.1:g.103764_103768dup, NG_021421.1:g.103763_103768dup

Select item 14915358884.

rs1491535888 has merged into rs1199768843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35310658 (GRCh38)
20:33898461 (GRCh37)
Canonical SPDI:: NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35310644:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35310658_35310668del, NC_000020.11:g.35310659_35310668del, NC_000020.11:g.35310662_35310668del, NC_000020.11:g.35310663_35310668del, NC_000020.11:g.35310664_35310668del, NC_000020.11:g.35310665_35310668del, NC_000020.11:g.35310666_35310668del, NC_000020.11:g.35310667_35310668del, NC_000020.11:g.35310668del, NC_000020.11:g.35310668dup, NC_000020.11:g.35310667_35310668dup, NC_000020.11:g.35310666_35310668dup, NC_000020.11:g.35310665_35310668dup, NC_000020.11:g.35310664_35310668dup, NC_000020.11:g.35310663_35310668dup, NC_000020.11:g.35310662_35310668dup, NC_000020.11:g.35310660_35310668dup, NC_000020.10:g.33898461_33898471del, NC_000020.10:g.33898462_33898471del, NC_000020.10:g.33898465_33898471del, NC_000020.10:g.33898466_33898471del, NC_000020.10:g.33898467_33898471del, NC_000020.10:g.33898468_33898471del, NC_000020.10:g.33898469_33898471del, NC_000020.10:g.33898470_33898471del, NC_000020.10:g.33898471del, NC_000020.10:g.33898471dup, NC_000020.10:g.33898470_33898471dup, NC_000020.10:g.33898469_33898471dup, NC_000020.10:g.33898468_33898471dup, NC_000020.10:g.33898467_33898471dup, NC_000020.10:g.33898466_33898471dup, NC_000020.10:g.33898465_33898471dup, NC_000020.10:g.33898463_33898471dup, NG_021421.1:g.106488_106498del, NG_021421.1:g.106489_106498del, NG_021421.1:g.106492_106498del, NG_021421.1:g.106493_106498del, NG_021421.1:g.106494_106498del, NG_021421.1:g.106495_106498del, NG_021421.1:g.106496_106498del, NG_021421.1:g.106497_106498del, NG_021421.1:g.106498del, NG_021421.1:g.106498dup, NG_021421.1:g.106497_106498dup, NG_021421.1:g.106496_106498dup, NG_021421.1:g.106495_106498dup, NG_021421.1:g.106494_106498dup, NG_021421.1:g.106493_106498dup, NG_021421.1:g.106492_106498dup, NG_021421.1:g.106490_106498dup

Select item 14914247015.

rs1491424701 has merged into rs1198006186 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35358365 (GRCh38)
20:33946168 (GRCh37)
Canonical SPDI:: NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35358356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35358365_35358380del, NC_000020.11:g.35358367_35358380del, NC_000020.11:g.35358368_35358380del, NC_000020.11:g.35358369_35358380del, NC_000020.11:g.35358370_35358380del, NC_000020.11:g.35358372_35358380del, NC_000020.11:g.35358373_35358380del, NC_000020.11:g.35358374_35358380del, NC_000020.11:g.35358375_35358380del, NC_000020.11:g.35358376_35358380del, NC_000020.11:g.35358377_35358380del, NC_000020.11:g.35358378_35358380del, NC_000020.11:g.35358379_35358380del, NC_000020.11:g.35358380del, NC_000020.11:g.35358380dup, NC_000020.11:g.35358379_35358380dup, NC_000020.11:g.35358378_35358380dup, NC_000020.11:g.35358377_35358380dup, NC_000020.11:g.35358376_35358380dup, NC_000020.11:g.35358375_35358380dup, NC_000020.11:g.35358374_35358380dup, NC_000020.11:g.35358373_35358380dup, NC_000020.11:g.35358372_35358380dup, NC_000020.11:g.35358371_35358380dup, NC_000020.11:g.35358370_35358380dup, NC_000020.11:g.35358369_35358380dup, NC_000020.11:g.35358368_35358380dup, NC_000020.11:g.35358367_35358380dup, NC_000020.11:g.35358380_35358381insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.35358380_35358381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33946168_33946183del, NC_000020.10:g.33946170_33946183del, NC_000020.10:g.33946171_33946183del, NC_000020.10:g.33946172_33946183del, NC_000020.10:g.33946173_33946183del, NC_000020.10:g.33946175_33946183del, NC_000020.10:g.33946176_33946183del, NC_000020.10:g.33946177_33946183del, NC_000020.10:g.33946178_33946183del, NC_000020.10:g.33946179_33946183del, NC_000020.10:g.33946180_33946183del, NC_000020.10:g.33946181_33946183del, NC_000020.10:g.33946182_33946183del, NC_000020.10:g.33946183del, NC_000020.10:g.33946183dup, NC_000020.10:g.33946182_33946183dup, NC_000020.10:g.33946181_33946183dup, NC_000020.10:g.33946180_33946183dup, NC_000020.10:g.33946179_33946183dup, NC_000020.10:g.33946178_33946183dup, NC_000020.10:g.33946177_33946183dup, NC_000020.10:g.33946176_33946183dup, NC_000020.10:g.33946175_33946183dup, NC_000020.10:g.33946174_33946183dup, NC_000020.10:g.33946173_33946183dup, NC_000020.10:g.33946172_33946183dup, NC_000020.10:g.33946171_33946183dup, NC_000020.10:g.33946170_33946183dup, NC_000020.10:g.33946183_33946184insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33946183_33946184insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021421.1:g.58771_58786del, NG_021421.1:g.58773_58786del, NG_021421.1:g.58774_58786del, NG_021421.1:g.58775_58786del, NG_021421.1:g.58776_58786del, NG_021421.1:g.58778_58786del, NG_021421.1:g.58779_58786del, NG_021421.1:g.58780_58786del, NG_021421.1:g.58781_58786del, NG_021421.1:g.58782_58786del, NG_021421.1:g.58783_58786del, NG_021421.1:g.58784_58786del, NG_021421.1:g.58785_58786del, NG_021421.1:g.58786del, NG_021421.1:g.58786dup, NG_021421.1:g.58785_58786dup, NG_021421.1:g.58784_58786dup, NG_021421.1:g.58783_58786dup, NG_021421.1:g.58782_58786dup, NG_021421.1:g.58781_58786dup, NG_021421.1:g.58780_58786dup, NG_021421.1:g.58779_58786dup, NG_021421.1:g.58778_58786dup, NG_021421.1:g.58777_58786dup, NG_021421.1:g.58776_58786dup, NG_021421.1:g.58775_58786dup, NG_021421.1:g.58774_58786dup, NG_021421.1:g.58773_58786dup, NG_021421.1:g.58786_58787insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021421.1:g.58786_58787insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914244686.

rs1491424468 has merged into rs11478013 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35351403 (GRCh38)
20:33939206 (GRCh37)
Canonical SPDI:: NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35351391:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.181/105 (NorthernSweden)
AA=0.4491/2249 (1000Genomes)
HGVS:: NC_000020.11:g.35351403_35351408del, NC_000020.11:g.35351404_35351408del, NC_000020.11:g.35351405_35351408del, NC_000020.11:g.35351406_35351408del, NC_000020.11:g.35351407_35351408del, NC_000020.11:g.35351408del, NC_000020.11:g.35351408dup, NC_000020.11:g.35351407_35351408dup, NC_000020.11:g.35351403_35351408dup, NC_000020.11:g.35351402_35351408dup, NC_000020.10:g.33939206_33939211del, NC_000020.10:g.33939207_33939211del, NC_000020.10:g.33939208_33939211del, NC_000020.10:g.33939209_33939211del, NC_000020.10:g.33939210_33939211del, NC_000020.10:g.33939211del, NC_000020.10:g.33939211dup, NC_000020.10:g.33939210_33939211dup, NC_000020.10:g.33939206_33939211dup, NC_000020.10:g.33939205_33939211dup, NG_021421.1:g.65746_65751del, NG_021421.1:g.65747_65751del, NG_021421.1:g.65748_65751del, NG_021421.1:g.65749_65751del, NG_021421.1:g.65750_65751del, NG_021421.1:g.65751del, NG_021421.1:g.65751dup, NG_021421.1:g.65750_65751dup, NG_021421.1:g.65746_65751dup, NG_021421.1:g.65745_65751dup

Select item 14913916877.

rs1491391687 has merged into rs1227064253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:35399936 (GRCh38)
20:33987739 (GRCh37)
Canonical SPDI:: NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35399925:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35399936_35399943del, NC_000020.11:g.35399939_35399943del, NC_000020.11:g.35399940_35399943del, NC_000020.11:g.35399941_35399943del, NC_000020.11:g.35399942_35399943del, NC_000020.11:g.35399943del, NC_000020.11:g.35399943dup, NC_000020.11:g.35399942_35399943dup, NC_000020.11:g.35399941_35399943dup, NC_000020.11:g.35399940_35399943dup, NC_000020.11:g.35399939_35399943dup, NC_000020.10:g.33987739_33987746del, NC_000020.10:g.33987742_33987746del, NC_000020.10:g.33987743_33987746del, NC_000020.10:g.33987744_33987746del, NC_000020.10:g.33987745_33987746del, NC_000020.10:g.33987746del, NC_000020.10:g.33987746dup, NC_000020.10:g.33987745_33987746dup, NC_000020.10:g.33987744_33987746dup, NC_000020.10:g.33987743_33987746dup, NC_000020.10:g.33987742_33987746dup, NG_021421.1:g.17210_17217del, NG_021421.1:g.17213_17217del, NG_021421.1:g.17214_17217del, NG_021421.1:g.17215_17217del, NG_021421.1:g.17216_17217del, NG_021421.1:g.17217del, NG_021421.1:g.17217dup, NG_021421.1:g.17216_17217dup, NG_021421.1:g.17215_17217dup, NG_021421.1:g.17214_17217dup, NG_021421.1:g.17213_17217dup

Select item 14913811508.

rs1491381150 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA,CAAAACAAA [Show Flanks]
Chromosome:: 20:35376969 (GRCh38)
20:33964773 (GRCh37)
Canonical SPDI:: NC_000020.11:35376969:AAA:AAACAAA,NC_000020.11:35376969:AAA:AAACAAAACAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAAACAAA=0./0 (ALFA)
AAACAAAAC=0.000004/1 (TOPMED)
AAAC=0.000059/2 (GnomAD)
AAAC=0.00008/2 (TOMMO)
HGVS:: NC_000020.11:g.35376972_35376973insCAAA, NC_000020.11:g.35376970_35376972AAACA[2]AA[1], NC_000020.10:g.33964775_33964776insCAAA, NC_000020.10:g.33964773_33964775AAACA[2]AA[1], NG_021421.1:g.40173_40174insGTTT, NG_021421.1:g.40171_40173TTTGT[2]TT[1]

Select item 14913721889.

rs1491372188 has merged into rs5841203 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35373702 (GRCh38)
20:33961505 (GRCh37)
Canonical SPDI:: NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2588/1296 (1000Genomes)
-=0.2823/1088 (ALSPAC)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.35373702_35373707del, NC_000020.11:g.35373704_35373707del, NC_000020.11:g.35373705_35373707del, NC_000020.11:g.35373706_35373707del, NC_000020.11:g.35373707del, NC_000020.11:g.35373707dup, NC_000020.11:g.35373706_35373707dup, NC_000020.11:g.35373705_35373707dup, NC_000020.11:g.35373704_35373707dup, NC_000020.11:g.35373703_35373707dup, NC_000020.11:g.35373702_35373707dup, NC_000020.11:g.35373701_35373707dup, NC_000020.10:g.33961505_33961510del, NC_000020.10:g.33961507_33961510del, NC_000020.10:g.33961508_33961510del, NC_000020.10:g.33961509_33961510del, NC_000020.10:g.33961510del, NC_000020.10:g.33961510dup, NC_000020.10:g.33961509_33961510dup, NC_000020.10:g.33961508_33961510dup, NC_000020.10:g.33961507_33961510dup, NC_000020.10:g.33961506_33961510dup, NC_000020.10:g.33961505_33961510dup, NC_000020.10:g.33961504_33961510dup, NG_021421.1:g.43450_43455del, NG_021421.1:g.43452_43455del, NG_021421.1:g.43453_43455del, NG_021421.1:g.43454_43455del, NG_021421.1:g.43455del, NG_021421.1:g.43455dup, NG_021421.1:g.43454_43455dup, NG_021421.1:g.43453_43455dup, NG_021421.1:g.43452_43455dup, NG_021421.1:g.43451_43455dup, NG_021421.1:g.43450_43455dup, NG_021421.1:g.43449_43455dup

Select item 149133034110.

rs1491330341 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35358356 (GRCh38)
20:33946159 (GRCh37)
Canonical SPDI:: NC_000020.11:35358355:CA:
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02512/298 (ALFA)
-=0.00291/83 (GnomAD)
-=0.0133/208 (TOMMO)
HGVS:: NC_000020.11:g.35358356_35358357del, NC_000020.10:g.33946159_33946160del, NG_021421.1:g.58786_58787del

Select item 149132350011.

rs1491323500 has merged into rs74173950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35404376 (GRCh38)
20:33992179 (GRCh37)
Canonical SPDI:: NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35404369:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.2023/1013 (1000Genomes)
HGVS:: NC_000020.11:g.35404376_35404385del, NC_000020.11:g.35404382_35404385del, NC_000020.11:g.35404383_35404385del, NC_000020.11:g.35404384_35404385del, NC_000020.11:g.35404385del, NC_000020.11:g.35404385dup, NC_000020.11:g.35404384_35404385dup, NC_000020.10:g.33992179_33992188del, NC_000020.10:g.33992185_33992188del, NC_000020.10:g.33992186_33992188del, NC_000020.10:g.33992187_33992188del, NC_000020.10:g.33992188del, NC_000020.10:g.33992188dup, NC_000020.10:g.33992187_33992188dup, NG_021421.1:g.12764_12773del, NG_021421.1:g.12770_12773del, NG_021421.1:g.12771_12773del, NG_021421.1:g.12772_12773del, NG_021421.1:g.12773del, NG_021421.1:g.12773dup, NG_021421.1:g.12772_12773dup

Select item 149131457712.

rs1491314577 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35404369 (GRCh38)
20:33992172 (GRCh37)
Canonical SPDI:: NC_000020.11:35404368:CA:
Gene:: UQCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.35404369_35404370del, NC_000020.10:g.33992172_33992173del, NG_021421.1:g.12773_12774del

Select item 149130814313.

rs1491308143 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35373687 (GRCh38)
20:33961490 (GRCh37)
Canonical SPDI:: NC_000020.11:35373686:CA:
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.35373687_35373688del, NC_000020.10:g.33961490_33961491del, NG_021421.1:g.43455_43456del

Select item 149129822814.

rs1491298228 has merged into rs375718160 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 20:35391735 (GRCh38)
20:33979538 (GRCh37)
Canonical SPDI:: NC_000020.11:35391725:AAAAAAAAAAA:AAAAAAAAA,NC_000020.11:35391725:AAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:35391725:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35391725:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35391725:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0836/193 (1000Genomes)
-=0.35/14 (GENOME_DK)
-=0.3933/236 (NorthernSweden)
HGVS:: NC_000020.11:g.35391735_35391736del, NC_000020.11:g.35391736del, NC_000020.11:g.35391736dup, NC_000020.11:g.35391735_35391736dup, NC_000020.11:g.35391734_35391736dup, NC_000020.10:g.33979538_33979539del, NC_000020.10:g.33979539del, NC_000020.10:g.33979539dup, NC_000020.10:g.33979538_33979539dup, NC_000020.10:g.33979537_33979539dup, NG_021421.1:g.25416_25417del, NG_021421.1:g.25417del, NG_021421.1:g.25417dup, NG_021421.1:g.25416_25417dup, NG_021421.1:g.25415_25417dup

Select item 149129673215.

rs1491296732 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:35313375 (GRCh38)
20:33901179 (GRCh37)
Canonical SPDI:: NC_000020.11:35313375::C
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.35313375_35313376insC, NC_000020.10:g.33901178_33901179insC, NG_021421.1:g.103767_103768insG

Select item 149128477916.

rs1491284779 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:35399926 (GRCh38)
20:33987730 (GRCh37)
Canonical SPDI:: NC_000020.11:35399926::C
Gene:: UQCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00154/25 (ALFA)
C=0.00136/130 (GnomAD)
HGVS:: NC_000020.11:g.35399926_35399927insC, NC_000020.10:g.33987729_33987730insC, NG_021421.1:g.17216_17217insG

Select item 149128439917.

rs1491284399 has merged into rs11330133 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35376974 (GRCh38)
20:33964777 (GRCh37)
Canonical SPDI:: NC_000020.11:35376968:AAAAAAAAAAA:AAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35376968:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.23568/3950 (TOMMO)
A=0.27238/499 (Korea1K)
A=0.35/14 (GENOME_DK)
A=0.38796/232 (NorthernSweden)
A=0.48942/2451 (1000Genomes)
HGVS:: NC_000020.11:g.35376974_35376979del, NC_000020.11:g.35376975_35376979del, NC_000020.11:g.35376978_35376979del, NC_000020.11:g.35376979del, NC_000020.11:g.35376979dup, NC_000020.11:g.35376976_35376979dup, NC_000020.11:g.35376975_35376979dup, NC_000020.11:g.35376971_35376979dup, NC_000020.11:g.35376969_35376979dup, NC_000020.11:g.35376979_35376980insAAAAAAAAAAAAAA, NC_000020.10:g.33964777_33964782del, NC_000020.10:g.33964778_33964782del, NC_000020.10:g.33964781_33964782del, NC_000020.10:g.33964782del, NC_000020.10:g.33964782dup, NC_000020.10:g.33964779_33964782dup, NC_000020.10:g.33964778_33964782dup, NC_000020.10:g.33964774_33964782dup, NC_000020.10:g.33964772_33964782dup, NC_000020.10:g.33964782_33964783insAAAAAAAAAAAAAA, NG_021421.1:g.40169_40174del, NG_021421.1:g.40170_40174del, NG_021421.1:g.40173_40174del, NG_021421.1:g.40174del, NG_021421.1:g.40174dup, NG_021421.1:g.40171_40174dup, NG_021421.1:g.40170_40174dup, NG_021421.1:g.40166_40174dup, NG_021421.1:g.40164_40174dup, NG_021421.1:g.40174_40175insTTTTTTTTTTTTTT

Select item 149123804618.

rs1491238046 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:35309447 (GRCh38)
20:33897250 (GRCh37)
Canonical SPDI:: NC_000020.11:35309445:AGA:A
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35309447_35309448del, NC_000020.10:g.33897250_33897251del, NG_021421.1:g.107696_107697del

Select item 149119087119.

rs1491190871 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:35309446 (GRCh38)
20:33897250 (GRCh37)
Canonical SPDI:: NC_000020.11:35309446::T
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.35309446_35309447insT, NC_000020.10:g.33897249_33897250insT, NG_021421.1:g.107696_107697insA

Select item 149115364920.

rs1491153649 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35310644 (GRCh38)
20:33898447 (GRCh37)
Canonical SPDI:: NC_000020.11:35310643:CA:
Gene:: UQCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000020.11:g.35310644_35310645del, NC_000020.10:g.33898447_33898448del, NG_021421.1:g.106498_106499del

<< First< Prev

Page of 1171

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 23402

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity