SNP Links for Gene (Select 284805) - SNP

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Select item 14915543351.

rs1491554335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 20:32643625 (GRCh38)
20:31231428 (GRCh37)
Canonical SPDI:: NC_000020.11:32643625:C:CGC
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.000054/7 (GnomAD)
HGVS:: NC_000020.11:g.32643626_32643627insGC, NC_000020.10:g.31231428_31231429insGC

Select item 14915395852.

rs1491539585 has merged into rs869043468 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:32671851 (GRCh38)
20:31259653 (GRCh37)
Canonical SPDI:: NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32671840:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.32671851_32671864del, NC_000020.11:g.32671852_32671864del, NC_000020.11:g.32671853_32671864del, NC_000020.11:g.32671854_32671864del, NC_000020.11:g.32671855_32671864del, NC_000020.11:g.32671856_32671864del, NC_000020.11:g.32671857_32671864del, NC_000020.11:g.32671858_32671864del, NC_000020.11:g.32671859_32671864del, NC_000020.11:g.32671860_32671864del, NC_000020.11:g.32671861_32671864del, NC_000020.11:g.32671862_32671864del, NC_000020.11:g.32671863_32671864del, NC_000020.11:g.32671864del, NC_000020.11:g.32671864dup, NC_000020.11:g.32671863_32671864dup, NC_000020.11:g.32671862_32671864dup, NC_000020.11:g.32671861_32671864dup, NC_000020.11:g.32671859_32671864dup, NC_000020.10:g.31259653_31259666del, NC_000020.10:g.31259654_31259666del, NC_000020.10:g.31259655_31259666del, NC_000020.10:g.31259656_31259666del, NC_000020.10:g.31259657_31259666del, NC_000020.10:g.31259658_31259666del, NC_000020.10:g.31259659_31259666del, NC_000020.10:g.31259660_31259666del, NC_000020.10:g.31259661_31259666del, NC_000020.10:g.31259662_31259666del, NC_000020.10:g.31259663_31259666del, NC_000020.10:g.31259664_31259666del, NC_000020.10:g.31259665_31259666del, NC_000020.10:g.31259666del, NC_000020.10:g.31259666dup, NC_000020.10:g.31259665_31259666dup, NC_000020.10:g.31259664_31259666dup, NC_000020.10:g.31259663_31259666dup, NC_000020.10:g.31259661_31259666dup

Select item 14915348013.

rs1491534801 [Homo sapiens]

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

Select item 14915023354.

rs1491502335 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:32674644 (GRCh38)
20:31262446 (GRCh37)
Canonical SPDI:: NC_000020.11:32674643:CT:
Gene:: C20orf203 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00046/8 (TOMMO)
HGVS:: NC_000020.11:g.32674644_32674645del, NC_000020.10:g.31262446_31262447del

Select item 14914806985.

rs1491480698 has merged into rs11483593 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:32652333 (GRCh38)
20:31240135 (GRCh37)
Canonical SPDI:: NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32652322:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.32652333_32652348del, NC_000020.11:g.32652335_32652348del, NC_000020.11:g.32652336_32652348del, NC_000020.11:g.32652337_32652348del, NC_000020.11:g.32652338_32652348del, NC_000020.11:g.32652339_32652348del, NC_000020.11:g.32652340_32652348del, NC_000020.11:g.32652341_32652348del, NC_000020.11:g.32652342_32652348del, NC_000020.11:g.32652343_32652348del, NC_000020.11:g.32652344_32652348del, NC_000020.11:g.32652345_32652348del, NC_000020.11:g.32652346_32652348del, NC_000020.11:g.32652347_32652348del, NC_000020.11:g.32652348del, NC_000020.11:g.32652348dup, NC_000020.11:g.32652347_32652348dup, NC_000020.11:g.32652346_32652348dup, NC_000020.11:g.32652345_32652348dup, NC_000020.11:g.32652344_32652348dup, NC_000020.11:g.32652343_32652348dup, NC_000020.11:g.32652339_32652348dup, NC_000020.10:g.31240135_31240150del, NC_000020.10:g.31240137_31240150del, NC_000020.10:g.31240138_31240150del, NC_000020.10:g.31240139_31240150del, NC_000020.10:g.31240140_31240150del, NC_000020.10:g.31240141_31240150del, NC_000020.10:g.31240142_31240150del, NC_000020.10:g.31240143_31240150del, NC_000020.10:g.31240144_31240150del, NC_000020.10:g.31240145_31240150del, NC_000020.10:g.31240146_31240150del, NC_000020.10:g.31240147_31240150del, NC_000020.10:g.31240148_31240150del, NC_000020.10:g.31240149_31240150del, NC_000020.10:g.31240150del, NC_000020.10:g.31240150dup, NC_000020.10:g.31240149_31240150dup, NC_000020.10:g.31240148_31240150dup, NC_000020.10:g.31240147_31240150dup, NC_000020.10:g.31240146_31240150dup, NC_000020.10:g.31240145_31240150dup, NC_000020.10:g.31240141_31240150dup

Select item 14914563126.

rs1491456312 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 20:32643625 (GRCh38)
20:31231427 (GRCh37)
Canonical SPDI:: NC_000020.11:32643624:CC:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000059/6 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.32643625_32643626del, NC_000020.10:g.31231427_31231428del

Select item 14914346527.

rs1491434652 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:32671840 (GRCh38)
20:31259642 (GRCh37)
Canonical SPDI:: NC_000020.11:32671839:CA:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00011/6 (GnomAD)
HGVS:: NC_000020.11:g.32671840_32671841del, NC_000020.10:g.31259642_31259643del

Select item 14913038678.

rs1491303867 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:32652322 (GRCh38)
20:31240124 (GRCh37)
Canonical SPDI:: NC_000020.11:32652321:CA:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.32652322_32652323del, NC_000020.10:g.31240124_31240125del

Select item 14913020379.

rs1491302037 has merged into rs147487671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:32666166 (GRCh38)
20:31253968 (GRCh37)
Canonical SPDI:: NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666155:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3484/1745 (1000Genomes)
HGVS:: NC_000020.11:g.32666166_32666177del, NC_000020.11:g.32666168_32666177del, NC_000020.11:g.32666169_32666177del, NC_000020.11:g.32666171_32666177del, NC_000020.11:g.32666172_32666177del, NC_000020.11:g.32666173_32666177del, NC_000020.11:g.32666174_32666177del, NC_000020.11:g.32666175_32666177del, NC_000020.11:g.32666176_32666177del, NC_000020.11:g.32666177del, NC_000020.11:g.32666177dup, NC_000020.11:g.32666176_32666177dup, NC_000020.11:g.32666175_32666177dup, NC_000020.11:g.32666174_32666177dup, NC_000020.11:g.32666173_32666177dup, NC_000020.11:g.32666172_32666177dup, NC_000020.11:g.32666171_32666177dup, NC_000020.11:g.32666170_32666177dup, NC_000020.11:g.32666169_32666177dup, NC_000020.11:g.32666168_32666177dup, NC_000020.11:g.32666167_32666177dup, NC_000020.11:g.32666166_32666177dup, NC_000020.11:g.32666165_32666177dup, NC_000020.11:g.32666160_32666177dup, NC_000020.11:g.32666159_32666177dup, NC_000020.11:g.32666158_32666177dup, NC_000020.11:g.32666157_32666177dup, NC_000020.11:g.32666156_32666177dup, NC_000020.11:g.32666177_32666178insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.32666177_32666178insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.32666177_32666178insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.32666177_32666178insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.32666177_32666178insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.32666156_32666177A[24]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[24]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[23]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[23]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[23]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666156_32666177A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253968_31253979del, NC_000020.10:g.31253970_31253979del, NC_000020.10:g.31253971_31253979del, NC_000020.10:g.31253973_31253979del, NC_000020.10:g.31253974_31253979del, NC_000020.10:g.31253975_31253979del, NC_000020.10:g.31253976_31253979del, NC_000020.10:g.31253977_31253979del, NC_000020.10:g.31253978_31253979del, NC_000020.10:g.31253979del, NC_000020.10:g.31253979dup, NC_000020.10:g.31253978_31253979dup, NC_000020.10:g.31253977_31253979dup, NC_000020.10:g.31253976_31253979dup, NC_000020.10:g.31253975_31253979dup, NC_000020.10:g.31253974_31253979dup, NC_000020.10:g.31253973_31253979dup, NC_000020.10:g.31253972_31253979dup, NC_000020.10:g.31253971_31253979dup, NC_000020.10:g.31253970_31253979dup, NC_000020.10:g.31253969_31253979dup, NC_000020.10:g.31253968_31253979dup, NC_000020.10:g.31253967_31253979dup, NC_000020.10:g.31253962_31253979dup, NC_000020.10:g.31253961_31253979dup, NC_000020.10:g.31253960_31253979dup, NC_000020.10:g.31253959_31253979dup, NC_000020.10:g.31253958_31253979dup, NC_000020.10:g.31253979_31253980insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.31253979_31253980insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.31253979_31253980insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.31253979_31253980insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.31253979_31253980insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.31253958_31253979A[24]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[24]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[24]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[23]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[23]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[23]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253958_31253979A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149128137610.

rs1491281376 has merged into rs71338452 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 20:32674654 (GRCh38)
20:31262456 (GRCh37)
Canonical SPDI:: NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32674644:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: C20orf203 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.14644/543 (TWINSUK)
-=0.15075/581 (ALSPAC)
-=0.15895/796 (1000Genomes)
-=0.16333/98 (NorthernSweden)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000020.11:g.32674654_32674657del, NC_000020.11:g.32674655_32674657del, NC_000020.11:g.32674656_32674657del, NC_000020.11:g.32674657del, NC_000020.11:g.32674657dup, NC_000020.11:g.32674656_32674657dup, NC_000020.10:g.31262456_31262459del, NC_000020.10:g.31262457_31262459del, NC_000020.10:g.31262458_31262459del, NC_000020.10:g.31262459del, NC_000020.10:g.31262459dup, NC_000020.10:g.31262458_31262459dup

Select item 149126029311.

rs1491260293 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:32666155 (GRCh38)
20:31253957 (GRCh37)
Canonical SPDI:: NC_000020.11:32666154:TA:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.32666155_32666156del, NC_000020.10:g.31253957_31253958del

Select item 149124378312.

rs1491243783 has merged into rs375016307 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 20:32666773 (GRCh38)
20:31254575 (GRCh37)
Canonical SPDI:: NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32666762:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2612/1308 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000020.11:g.32666773_32666778del, NC_000020.11:g.32666775_32666778del, NC_000020.11:g.32666776_32666778del, NC_000020.11:g.32666777_32666778del, NC_000020.11:g.32666778del, NC_000020.11:g.32666778dup, NC_000020.11:g.32666777_32666778dup, NC_000020.10:g.31254575_31254580del, NC_000020.10:g.31254577_31254580del, NC_000020.10:g.31254578_31254580del, NC_000020.10:g.31254579_31254580del, NC_000020.10:g.31254580del, NC_000020.10:g.31254580dup, NC_000020.10:g.31254579_31254580dup

Select item 149121407713.

rs1491214077 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:32671013 (GRCh38)
20:31258815 (GRCh37)
Canonical SPDI:: NC_000020.11:32671012:TA:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00012/8 (GnomAD)
HGVS:: NC_000020.11:g.32671013_32671014del, NC_000020.10:g.31258815_31258816del

Select item 149118265814.

rs1491182658 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:32666762 (GRCh38)
20:31254564 (GRCh37)
Canonical SPDI:: NC_000020.11:32666761:CA:
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.32666762_32666763del, NC_000020.10:g.31254564_31254565del

Select item 149115500915.

rs1491155009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATA [Show Flanks]
Chromosome:: 20:32666798 (GRCh38)
20:31254601 (GRCh37)
Canonical SPDI:: NC_000020.11:32666798:ATATATATA:ATATATATACATATATATA
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATACATATATATA=0./0 (ALFA)
ATATATATAC=0.00004/1 (GnomAD)
HGVS:: NC_000020.11:g.32666799_32666807AT[4]ACATATATATA[1], NC_000020.10:g.31254601_31254609AT[4]ACATATATATA[1]

Select item 149113989216.

rs1491139892 has merged into rs10590852 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 20:32671026 (GRCh38)
20:31258828 (GRCh37)
Canonical SPDI:: NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32671013:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2/8 (GENOME_DK)
AA=0.2933/176 (NorthernSweden)
-=0.4768/2388 (1000Genomes)
HGVS:: NC_000020.11:g.32671026_32671029del, NC_000020.11:g.32671027_32671029del, NC_000020.11:g.32671028_32671029del, NC_000020.11:g.32671029del, NC_000020.11:g.32671029dup, NC_000020.11:g.32671028_32671029dup, NC_000020.10:g.31258828_31258831del, NC_000020.10:g.31258829_31258831del, NC_000020.10:g.31258830_31258831del, NC_000020.10:g.31258831del, NC_000020.10:g.31258831dup, NC_000020.10:g.31258830_31258831dup

Select item 149105385317.

rs1491053853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATAAAAAAAAAAAAAAAAAAA,AGAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:32666158 (GRCh38)
20:31253961 (GRCh37)
Canonical SPDI:: NC_000020.11:32666158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAA,NC_000020.11:32666158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: AAAAAAAAAAAAAAAAAAAAG=0.00002/1 (GnomAD)
HGVS:: NC_000020.11:g.32666159_32666177A[21]TAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.32666159_32666177A[20]GAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253961_31253979A[21]TAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31253961_31253979A[20]GAAAAAAAAAAAAAAAAAAA[1]

Select item 149102112118.

rs1491021121 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:32647412 (GRCh38)
20:31235214 (GRCh37)
Canonical SPDI:: NC_000020.11:32647410:AGA:A
Gene:: C20orf203 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.32647412_32647413del, NC_000020.10:g.31235214_31235215del

Select item 149098174719.

rs1490981747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:32675444 (GRCh38)
20:31263246 (GRCh37)
Canonical SPDI:: NC_000020.11:32675443:A:C
Gene:: C20orf203 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.32675444A>C, NC_000020.10:g.31263246A>C

Select item 149095512720.

rs1490955127 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:32675554 (GRCh38)
20:31263356 (GRCh37)
Canonical SPDI:: NC_000020.11:32675553:CCCC:CCC
Gene:: C20orf203 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.32675557del, NC_000020.10:g.31263359del

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