SNP Links for Gene (Select 284739) - SNP

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Select item 14908979001.

rs1490897900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:64038943 (GRCh38)
20:62670296 (GRCh37)
Canonical SPDI:: NC_000020.11:64038942:G:A,NC_000020.11:64038942:G:T
Gene:: C20orf204 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64038943G>A, NC_000020.11:g.64038943G>T, NC_000020.10:g.62670296G>A, NC_000020.10:g.62670296G>T, NM_001348090.2:c.*184G>A, NM_001348090.2:c.*184G>T, NM_001348090.1:c.*184G>A, NM_001348090.1:c.*184G>T, NR_027686.1:n.4245G>A, NR_027686.1:n.4245G>T, NR_027687.1:n.4215G>A, NR_027687.1:n.4215G>T, NM_207349.1:c.566G>A, NM_207349.1:c.566G>T, NM_001387010.1:c.*184G>A, NM_001387010.1:c.*184G>T

Select item 14905260602.

rs1490526060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64040099 (GRCh38)
20:62671452 (GRCh37)
Canonical SPDI:: NC_000020.11:64040098:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.64040099G>A, NC_000020.10:g.62671452G>A

Select item 14905058243.

rs1490505824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:64039815 (GRCh38)
20:62671168 (GRCh37)
Canonical SPDI:: NC_000020.11:64039814:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.64039815A>G, NC_000020.10:g.62671168A>G, NR_027686.1:n.5117A>G, NR_027687.1:n.5087A>G

Select item 14904373964.

rs1490437396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:64034665 (GRCh38)
20:62666018 (GRCh37)
Canonical SPDI:: NC_000020.11:64034664:T:A
Gene:: C20orf204 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.64034665T>A, NC_000020.10:g.62666018T>A, NG_029719.1:g.58588T>A, NM_001348090.2:c.-1570T>A, NM_001348090.1:c.-1570T>A, NR_027686.1:n.322T>A, NR_027687.1:n.322T>A

Select item 14904067625.

rs1490406762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:64033707 (GRCh38)
20:62665060 (GRCh37)
Canonical SPDI:: NC_000020.11:64033706:G:T
Gene:: C20orf204 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.64033707G>T, NC_000020.10:g.62665060G>T, NG_029719.1:g.57630G>T

Select item 14901768426.

rs1490176842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:64037977 (GRCh38)
20:62669330 (GRCh37)
Canonical SPDI:: NC_000020.11:64037976:C:G
Gene:: C20orf204 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.64037977C>G, NC_000020.10:g.62669330C>G, NM_001348090.2:c.54C>G, NM_001348090.1:c.54C>G, NR_027686.1:n.3545C>G, NR_027687.1:n.3545C>G, NM_001387010.1:c.54C>G

Select item 14901309867.

rs1490130986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:64035935 (GRCh38)
20:62667288 (GRCh37)
Canonical SPDI:: NC_000020.11:64035934:C:G,NC_000020.11:64035934:C:T
Gene:: C20orf204 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.64035935C>G, NC_000020.11:g.64035935C>T, NC_000020.10:g.62667288C>G, NC_000020.10:g.62667288C>T, NM_001348090.2:c.-300C>G, NM_001348090.2:c.-300C>T, NM_001348090.1:c.-300C>G, NM_001348090.1:c.-300C>T, NR_027686.1:n.1592C>G, NR_027686.1:n.1592C>T, NR_027687.1:n.1592C>G, NR_027687.1:n.1592C>T

Select item 14901079988.

rs1490107998 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:64035444 (GRCh38)
20:62666797 (GRCh37)
Canonical SPDI:: NC_000020.11:64035443:CC:C
Gene:: C20orf204 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.64035445del, NC_000020.10:g.62666798del, NM_001348090.2:c.-790del, NM_001348090.1:c.-790del, NR_027686.1:n.1102del, NR_027687.1:n.1102del

Select item 14895389059.

rs1489538905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:64036403 (GRCh38)
20:62667756 (GRCh37)
Canonical SPDI:: NC_000020.11:64036402:C:G
Gene:: C20orf204 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.64036403C>G, NC_000020.10:g.62667756C>G, NR_027686.1:n.1971C>G, NR_027687.1:n.1971C>G

Select item 148915804810.

rs1489158048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:64033812 (GRCh38)
20:62665165 (GRCh37)
Canonical SPDI:: NC_000020.11:64033811:T:C
Gene:: C20orf204 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.64033812T>C, NC_000020.10:g.62665165T>C, NG_029719.1:g.57735T>C

Select item 148862852611.

rs1488628526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:64032834 (GRCh38)
20:62664187 (GRCh37)
Canonical SPDI:: NC_000020.11:64032833:C:T
Gene:: PRPF6 (Varview), C20orf204 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.64032834C>T, NC_000020.10:g.62664187C>T, NG_029719.1:g.56757C>T

Select item 148807802212.

rs1488078022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64033324 (GRCh38)
20:62664677 (GRCh37)
Canonical SPDI:: NC_000020.11:64033323:G:A
Gene:: PRPF6 (Varview), C20orf204 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_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.64033324G>A, NC_000020.10:g.62664677G>A, NG_029719.1:g.57247G>A

Select item 148796409513.

rs1487964095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:64038223 (GRCh38)
20:62669576 (GRCh37)
Canonical SPDI:: NC_000020.11:64038222:C:A,NC_000020.11:64038222:C:T
Gene:: C20orf204 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.64038223C>A, NC_000020.11:g.64038223C>T, NC_000020.10:g.62669576C>A, NC_000020.10:g.62669576C>T, NM_207349.1:c.19C>A, NM_207349.1:c.19C>T

Select item 148784933414.

rs1487849334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:64033633 (GRCh38)
20:62664986 (GRCh37)
Canonical SPDI:: NC_000020.11:64033632:A:G
Gene:: C20orf204 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000020.11:g.64033633A>G, NC_000020.10:g.62664986A>G, NG_029719.1:g.57556A>G

Select item 148731885815.

rs1487318858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:64037528 (GRCh38)
20:62668881 (GRCh37)
Canonical SPDI:: NC_000020.11:64037527:G:A
Gene:: C20orf204 (Varview)
Functional Consequence:: 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.64037528G>A, NC_000020.10:g.62668881G>A, NR_027686.1:n.3096G>A, NR_027687.1:n.3096G>A

Select item 148667018316.

rs1486670183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:64032130 (GRCh38)
20:62663483 (GRCh37)
Canonical SPDI:: NC_000020.11:64032129:C:T
Gene:: PRPF6 (Varview), C20orf204 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64032130C>T, NC_000020.10:g.62663483C>T, NG_029719.1:g.56053C>T

Select item 148651066217.

rs1486510662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:64032375 (GRCh38)
20:62663728 (GRCh37)
Canonical SPDI:: NC_000020.11:64032374:C:T
Gene:: PRPF6 (Varview), C20orf204 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000020.11:g.64032375C>T, NC_000020.10:g.62663728C>T, NG_029719.1:g.56298C>T

Select item 148632269018.

rs1486322690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:64035190 (GRCh38)
20:62666543 (GRCh37)
Canonical SPDI:: NC_000020.11:64035189:G:T
Gene:: C20orf204 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64035190G>T, NC_000020.10:g.62666543G>T, NM_001348090.2:c.-1045G>T, NM_001348090.1:c.-1045G>T, NR_027686.1:n.847G>T, NR_027687.1:n.847G>T

Select item 148630504719.

rs1486305047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:64037418 (GRCh38)
20:62668771 (GRCh37)
Canonical SPDI:: NC_000020.11:64037417:T:C
Gene:: C20orf204 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.64037418T>C, NC_000020.10:g.62668771T>C, NR_027686.1:n.2986T>C, NR_027687.1:n.2986T>C

Select item 148619042020.

rs1486190420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:64033186 (GRCh38)
20:62664539 (GRCh37)
Canonical SPDI:: NC_000020.11:64033185:C:G
Gene:: PRPF6 (Varview), C20orf204 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000079/21 (TOPMED)
G=0.000086/12 (GnomAD)
HGVS:: NC_000020.11:g.64033186C>G, NC_000020.10:g.62664539C>G, NG_029719.1:g.57109C>G

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