SNP Links for Gene (Select 100506175) - SNP

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Select item 14912525011.

rs1491252501 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 20:50655669 (GRCh38)
20:49272207 (GRCh37)
Canonical SPDI:: NC_000020.11:50655669:T:TAT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0.000084/1 (ALFA)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50655670_50655671insAT, NC_000020.10:g.49272207_49272208insAT, NG_034040.1:g.40861_40862insTA

Select item 14912183472.

rs1491218347 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 20:50643707 (GRCh38)
20:49260245 (GRCh37)
Canonical SPDI:: NC_000020.11:50643707:TT:TTCTT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.50643709_50643710insCTT, NC_000020.10:g.49260246_49260247insCTT, NG_034040.1:g.52823_52824insGAA

Select item 14911477353.

rs1491147735 has merged into rs11470456 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:50652600 (GRCh38)
20:49269137 (GRCh37)
Canonical SPDI:: NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50652590:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.50652600_50652613del, NC_000020.11:g.50652602_50652613del, NC_000020.11:g.50652603_50652613del, NC_000020.11:g.50652604_50652613del, NC_000020.11:g.50652605_50652613del, NC_000020.11:g.50652606_50652613del, NC_000020.11:g.50652607_50652613del, NC_000020.11:g.50652608_50652613del, NC_000020.11:g.50652609_50652613del, NC_000020.11:g.50652610_50652613del, NC_000020.11:g.50652611_50652613del, NC_000020.11:g.50652612_50652613del, NC_000020.11:g.50652613del, NC_000020.11:g.50652613dup, NC_000020.11:g.50652612_50652613dup, NC_000020.11:g.50652611_50652613dup, NC_000020.11:g.50652610_50652613dup, NC_000020.11:g.50652609_50652613dup, NC_000020.11:g.50652608_50652613dup, NC_000020.11:g.50652607_50652613dup, NC_000020.11:g.50652606_50652613dup, NC_000020.11:g.50652605_50652613dup, NC_000020.11:g.50652604_50652613dup, NC_000020.11:g.50652603_50652613dup, NC_000020.11:g.50652602_50652613dup, NC_000020.11:g.50652601_50652613dup, NC_000020.11:g.50652600_50652613dup, NC_000020.11:g.50652599_50652613dup, NC_000020.11:g.50652598_50652613dup, NC_000020.11:g.50652597_50652613dup, NC_000020.11:g.50652596_50652613dup, NC_000020.11:g.50652595_50652613dup, NC_000020.11:g.50652594_50652613dup, NC_000020.11:g.50652593_50652613dup, NC_000020.11:g.50652592_50652613dup, NC_000020.11:g.50652591_50652613dup, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652613_50652614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.50652591_50652613A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.50652591_50652613A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.49269137_49269150del, NC_000020.10:g.49269139_49269150del, NC_000020.10:g.49269140_49269150del, NC_000020.10:g.49269141_49269150del, NC_000020.10:g.49269142_49269150del, NC_000020.10:g.49269143_49269150del, NC_000020.10:g.49269144_49269150del, NC_000020.10:g.49269145_49269150del, NC_000020.10:g.49269146_49269150del, NC_000020.10:g.49269147_49269150del, NC_000020.10:g.49269148_49269150del, NC_000020.10:g.49269149_49269150del, NC_000020.10:g.49269150del, NC_000020.10:g.49269150dup, NC_000020.10:g.49269149_49269150dup, NC_000020.10:g.49269148_49269150dup, NC_000020.10:g.49269147_49269150dup, NC_000020.10:g.49269146_49269150dup, NC_000020.10:g.49269145_49269150dup, NC_000020.10:g.49269144_49269150dup, NC_000020.10:g.49269143_49269150dup, NC_000020.10:g.49269142_49269150dup, NC_000020.10:g.49269141_49269150dup, NC_000020.10:g.49269140_49269150dup, NC_000020.10:g.49269139_49269150dup, NC_000020.10:g.49269138_49269150dup, NC_000020.10:g.49269137_49269150dup, NC_000020.10:g.49269136_49269150dup, NC_000020.10:g.49269135_49269150dup, NC_000020.10:g.49269134_49269150dup, NC_000020.10:g.49269133_49269150dup, NC_000020.10:g.49269132_49269150dup, NC_000020.10:g.49269131_49269150dup, NC_000020.10:g.49269130_49269150dup, NC_000020.10:g.49269129_49269150dup, NC_000020.10:g.49269128_49269150dup, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269150_49269151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.49269128_49269150A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.49269128_49269150A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_034040.1:g.43927_43940del, NG_034040.1:g.43929_43940del, NG_034040.1:g.43930_43940del, NG_034040.1:g.43931_43940del, NG_034040.1:g.43932_43940del, NG_034040.1:g.43933_43940del, NG_034040.1:g.43934_43940del, NG_034040.1:g.43935_43940del, NG_034040.1:g.43936_43940del, NG_034040.1:g.43937_43940del, NG_034040.1:g.43938_43940del, NG_034040.1:g.43939_43940del, NG_034040.1:g.43940del, NG_034040.1:g.43940dup, NG_034040.1:g.43939_43940dup, NG_034040.1:g.43938_43940dup, NG_034040.1:g.43937_43940dup, NG_034040.1:g.43936_43940dup, NG_034040.1:g.43935_43940dup, NG_034040.1:g.43934_43940dup, NG_034040.1:g.43933_43940dup, NG_034040.1:g.43932_43940dup, NG_034040.1:g.43931_43940dup, NG_034040.1:g.43930_43940dup, NG_034040.1:g.43929_43940dup, NG_034040.1:g.43928_43940dup, NG_034040.1:g.43927_43940dup, NG_034040.1:g.43926_43940dup, NG_034040.1:g.43925_43940dup, NG_034040.1:g.43924_43940dup, NG_034040.1:g.43923_43940dup, NG_034040.1:g.43922_43940dup, NG_034040.1:g.43921_43940dup, NG_034040.1:g.43920_43940dup, NG_034040.1:g.43919_43940dup, NG_034040.1:g.43918_43940dup, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43940_43941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.43918_43940T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034040.1:g.43918_43940T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14910618544.

rs1491061854 has merged into rs558386174 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 20:50659663 (GRCh38)
20:49276200 (GRCh37)
Canonical SPDI:: NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50659647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.50659663_50659668del, NC_000020.11:g.50659664_50659668del, NC_000020.11:g.50659665_50659668del, NC_000020.11:g.50659666_50659668del, NC_000020.11:g.50659667_50659668del, NC_000020.11:g.50659668del, NC_000020.11:g.50659668dup, NC_000020.11:g.50659667_50659668dup, NC_000020.11:g.50659666_50659668dup, NC_000020.11:g.50659665_50659668dup, NC_000020.10:g.49276200_49276205del, NC_000020.10:g.49276201_49276205del, NC_000020.10:g.49276202_49276205del, NC_000020.10:g.49276203_49276205del, NC_000020.10:g.49276204_49276205del, NC_000020.10:g.49276205del, NC_000020.10:g.49276205dup, NC_000020.10:g.49276204_49276205dup, NC_000020.10:g.49276203_49276205dup, NC_000020.10:g.49276202_49276205dup, NG_034040.1:g.36878_36883del, NG_034040.1:g.36879_36883del, NG_034040.1:g.36880_36883del, NG_034040.1:g.36881_36883del, NG_034040.1:g.36882_36883del, NG_034040.1:g.36883del, NG_034040.1:g.36883dup, NG_034040.1:g.36882_36883dup, NG_034040.1:g.36881_36883dup, NG_034040.1:g.36880_36883dup

Select item 14910128685.

rs1491012868 has merged into rs34825514 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:50654435 (GRCh38)
20:49270972 (GRCh37)
Canonical SPDI:: NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50654422:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.50654435_50654448del, NC_000020.11:g.50654436_50654448del, NC_000020.11:g.50654437_50654448del, NC_000020.11:g.50654438_50654448del, NC_000020.11:g.50654439_50654448del, NC_000020.11:g.50654440_50654448del, NC_000020.11:g.50654441_50654448del, NC_000020.11:g.50654442_50654448del, NC_000020.11:g.50654443_50654448del, NC_000020.11:g.50654444_50654448del, NC_000020.11:g.50654445_50654448del, NC_000020.11:g.50654446_50654448del, NC_000020.11:g.50654447_50654448del, NC_000020.11:g.50654448del, NC_000020.11:g.50654448dup, NC_000020.11:g.50654447_50654448dup, NC_000020.11:g.50654446_50654448dup, NC_000020.11:g.50654445_50654448dup, NC_000020.11:g.50654444_50654448dup, NC_000020.11:g.50654443_50654448dup, NC_000020.11:g.50654442_50654448dup, NC_000020.10:g.49270972_49270985del, NC_000020.10:g.49270973_49270985del, NC_000020.10:g.49270974_49270985del, NC_000020.10:g.49270975_49270985del, NC_000020.10:g.49270976_49270985del, NC_000020.10:g.49270977_49270985del, NC_000020.10:g.49270978_49270985del, NC_000020.10:g.49270979_49270985del, NC_000020.10:g.49270980_49270985del, NC_000020.10:g.49270981_49270985del, NC_000020.10:g.49270982_49270985del, NC_000020.10:g.49270983_49270985del, NC_000020.10:g.49270984_49270985del, NC_000020.10:g.49270985del, NC_000020.10:g.49270985dup, NC_000020.10:g.49270984_49270985dup, NC_000020.10:g.49270983_49270985dup, NC_000020.10:g.49270982_49270985dup, NC_000020.10:g.49270981_49270985dup, NC_000020.10:g.49270980_49270985dup, NC_000020.10:g.49270979_49270985dup, NG_034040.1:g.42095_42108del, NG_034040.1:g.42096_42108del, NG_034040.1:g.42097_42108del, NG_034040.1:g.42098_42108del, NG_034040.1:g.42099_42108del, NG_034040.1:g.42100_42108del, NG_034040.1:g.42101_42108del, NG_034040.1:g.42102_42108del, NG_034040.1:g.42103_42108del, NG_034040.1:g.42104_42108del, NG_034040.1:g.42105_42108del, NG_034040.1:g.42106_42108del, NG_034040.1:g.42107_42108del, NG_034040.1:g.42108del, NG_034040.1:g.42108dup, NG_034040.1:g.42107_42108dup, NG_034040.1:g.42106_42108dup, NG_034040.1:g.42105_42108dup, NG_034040.1:g.42104_42108dup, NG_034040.1:g.42103_42108dup, NG_034040.1:g.42102_42108dup

Select item 14910087706.

rs1491008770 has merged into rs58201824 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:50660761 (GRCh38)
20:49277298 (GRCh37)
Canonical SPDI:: NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:50660749:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.50660761_50660772del, NC_000020.11:g.50660764_50660772del, NC_000020.11:g.50660767_50660772del, NC_000020.11:g.50660768_50660772del, NC_000020.11:g.50660769_50660772del, NC_000020.11:g.50660770_50660772del, NC_000020.11:g.50660771_50660772del, NC_000020.11:g.50660772del, NC_000020.11:g.50660772dup, NC_000020.11:g.50660771_50660772dup, NC_000020.11:g.50660770_50660772dup, NC_000020.11:g.50660769_50660772dup, NC_000020.11:g.50660768_50660772dup, NC_000020.11:g.50660767_50660772dup, NC_000020.11:g.50660766_50660772dup, NC_000020.11:g.50660765_50660772dup, NC_000020.11:g.50660764_50660772dup, NC_000020.11:g.50660763_50660772dup, NC_000020.11:g.50660772_50660773insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.49277298_49277309del, NC_000020.10:g.49277301_49277309del, NC_000020.10:g.49277304_49277309del, NC_000020.10:g.49277305_49277309del, NC_000020.10:g.49277306_49277309del, NC_000020.10:g.49277307_49277309del, NC_000020.10:g.49277308_49277309del, NC_000020.10:g.49277309del, NC_000020.10:g.49277309dup, NC_000020.10:g.49277308_49277309dup, NC_000020.10:g.49277307_49277309dup, NC_000020.10:g.49277306_49277309dup, NC_000020.10:g.49277305_49277309dup, NC_000020.10:g.49277304_49277309dup, NC_000020.10:g.49277303_49277309dup, NC_000020.10:g.49277302_49277309dup, NC_000020.10:g.49277301_49277309dup, NC_000020.10:g.49277300_49277309dup, NC_000020.10:g.49277309_49277310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034040.1:g.35770_35781del, NG_034040.1:g.35773_35781del, NG_034040.1:g.35776_35781del, NG_034040.1:g.35777_35781del, NG_034040.1:g.35778_35781del, NG_034040.1:g.35779_35781del, NG_034040.1:g.35780_35781del, NG_034040.1:g.35781del, NG_034040.1:g.35781dup, NG_034040.1:g.35780_35781dup, NG_034040.1:g.35779_35781dup, NG_034040.1:g.35778_35781dup, NG_034040.1:g.35777_35781dup, NG_034040.1:g.35776_35781dup, NG_034040.1:g.35775_35781dup, NG_034040.1:g.35774_35781dup, NG_034040.1:g.35773_35781dup, NG_034040.1:g.35772_35781dup, NG_034040.1:g.35781_35782insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909012027.

rs1490901202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50653571 (GRCh38)
20:49270108 (GRCh37)
Canonical SPDI:: NC_000020.11:50653570:G:A
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50653571G>A, NC_000020.10:g.49270108G>A, NG_034040.1:g.42960C>T

Select item 14906994838.

rs1490699483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:50646718 (GRCh38)
20:49263256 (GRCh37)
Canonical SPDI:: NC_000020.11:50646718:T:TT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50646719dup, NC_000020.10:g.49263256dup, NG_034040.1:g.49812dup

Select item 14906161909.

rs1490616190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50660689 (GRCh38)
20:49277226 (GRCh37)
Canonical SPDI:: NC_000020.11:50660688:C:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50660689C>T, NC_000020.10:g.49277226C>T, NG_034040.1:g.35842G>A

Select item 149038677710.

rs1490386777 has merged into rs11469999 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:50655683 (GRCh38)
20:49272220 (GRCh37)
Canonical SPDI:: NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:50655669:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.148677/573 (ALSPAC)
HGVS:: NC_000020.11:g.50655671GT[6], NC_000020.11:g.50655671GT[7], NC_000020.11:g.50655671GT[8], NC_000020.11:g.50655671GT[9], NC_000020.11:g.50655671GT[10], NC_000020.11:g.50655671GT[11], NC_000020.11:g.50655671GT[12], NC_000020.11:g.50655671GT[13], NC_000020.11:g.50655671GT[14], NC_000020.11:g.50655671GT[15], NC_000020.11:g.50655671GT[16], NC_000020.11:g.50655671GT[18], NC_000020.11:g.50655671GT[19], NC_000020.11:g.50655671GT[20], NC_000020.11:g.50655671GT[21], NC_000020.11:g.50655671GT[22], NC_000020.11:g.50655671GT[23], NC_000020.11:g.50655671GT[24], NC_000020.11:g.50655671GT[25], NC_000020.11:g.50655671GT[26], NC_000020.10:g.49272208GT[6], NC_000020.10:g.49272208GT[7], NC_000020.10:g.49272208GT[8], NC_000020.10:g.49272208GT[9], NC_000020.10:g.49272208GT[10], NC_000020.10:g.49272208GT[11], NC_000020.10:g.49272208GT[12], NC_000020.10:g.49272208GT[13], NC_000020.10:g.49272208GT[14], NC_000020.10:g.49272208GT[15], NC_000020.10:g.49272208GT[16], NC_000020.10:g.49272208GT[18], NC_000020.10:g.49272208GT[19], NC_000020.10:g.49272208GT[20], NC_000020.10:g.49272208GT[21], NC_000020.10:g.49272208GT[22], NC_000020.10:g.49272208GT[23], NC_000020.10:g.49272208GT[24], NC_000020.10:g.49272208GT[25], NC_000020.10:g.49272208GT[26], NG_034040.1:g.40828CA[6], NG_034040.1:g.40828CA[7], NG_034040.1:g.40828CA[8], NG_034040.1:g.40828CA[9], NG_034040.1:g.40828CA[10], NG_034040.1:g.40828CA[11], NG_034040.1:g.40828CA[12], NG_034040.1:g.40828CA[13], NG_034040.1:g.40828CA[14], NG_034040.1:g.40828CA[15], NG_034040.1:g.40828CA[16], NG_034040.1:g.40828CA[18], NG_034040.1:g.40828CA[19], NG_034040.1:g.40828CA[20], NG_034040.1:g.40828CA[21], NG_034040.1:g.40828CA[22], NG_034040.1:g.40828CA[23], NG_034040.1:g.40828CA[24], NG_034040.1:g.40828CA[25], NG_034040.1:g.40828CA[26]

Select item 149035740211.

rs1490357402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:50644864 (GRCh38)
20:49261401 (GRCh37)
Canonical SPDI:: NC_000020.11:50644863:A:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000020.11:g.50644864A>T, NC_000020.10:g.49261401A>T, NG_034040.1:g.51667T>A

Select item 149031570712.

rs1490315707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50646206 (GRCh38)
20:49262743 (GRCh37)
Canonical SPDI:: NC_000020.11:50646205:C:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50646206C>T, NC_000020.10:g.49262743C>T, NG_034040.1:g.50325G>A

Select item 149028004213.

rs1490280042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50645175 (GRCh38)
20:49261712 (GRCh37)
Canonical SPDI:: NC_000020.11:50645174:A:G
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.50645175A>G, NC_000020.10:g.49261712A>G, NG_034040.1:g.51356T>C

Select item 148999278514.

rs1489992785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:50644705 (GRCh38)
20:49261242 (GRCh37)
Canonical SPDI:: NC_000020.11:50644704:A:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00116/30 (TOMMO)
HGVS:: NC_000020.11:g.50644705A>T, NC_000020.10:g.49261242A>T, NG_034040.1:g.51826T>A

Select item 148986848115.

rs1489868481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:50652023 (GRCh38)
20:49268560 (GRCh37)
Canonical SPDI:: NC_000020.11:50652022:G:C,NC_000020.11:50652022:G:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50652023G>C, NC_000020.11:g.50652023G>T, NC_000020.10:g.49268560G>C, NC_000020.10:g.49268560G>T, NG_034040.1:g.44508C>G, NG_034040.1:g.44508C>A

Select item 148984753716.

rs1489847537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50659343 (GRCh38)
20:49275880 (GRCh37)
Canonical SPDI:: NC_000020.11:50659342:C:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50659343C>T, NC_000020.10:g.49275880C>T, NG_034040.1:g.37188G>A

Select item 148974325317.

rs1489743253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50651883 (GRCh38)
20:49268420 (GRCh37)
Canonical SPDI:: NC_000020.11:50651882:G:A
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50651883G>A, NC_000020.10:g.49268420G>A, NG_034040.1:g.44648C>T

Select item 148944214618.

rs1489442146 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGCATCACCAC>- [Show Flanks]
Chromosome:: 20:50660356 (GRCh38)
20:49276893 (GRCh37)
Canonical SPDI:: NC_000020.11:50660352:CACGTTGCATCACCAC:CAC
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50660356_50660368del, NC_000020.10:g.49276893_49276905del, NG_034040.1:g.36166_36178del

Select item 148937525619.

rs1489375256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:50644744 (GRCh38)
20:49261281 (GRCh37)
Canonical SPDI:: NC_000020.11:50644743:A:C,NC_000020.11:50644743:A:T
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.06674/195 (KOREAN)
HGVS:: NC_000020.11:g.50644744A>C, NC_000020.11:g.50644744A>T, NC_000020.10:g.49261281A>C, NC_000020.10:g.49261281A>T, NG_034040.1:g.51787T>G, NG_034040.1:g.51787T>A

Select item 148932265820.

rs1489322658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:50647905 (GRCh38)
20:49264442 (GRCh37)
Canonical SPDI:: NC_000020.11:50647904:C:G
Gene:: RIPOR3 (Varview), RIPOR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50647905C>G, NC_000020.10:g.49264442C>G, NG_034040.1:g.48626G>C

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