SNP Links for Gene (Select 128653) - SNP

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Select item 14907170381.

rs1490717038 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAGAAA>- [Show Flanks]
Chromosome:: 20:2813107 (GRCh38)
20:2793753 (GRCh37)
Canonical SPDI:: NC_000020.11:2813103:AAAAATAGAAA:AAA
Gene:: C20orf141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.2813107_2813114del, NC_000020.10:g.2793753_2793760del, NG_053067.1:g.3121_3128del

Select item 14903378192.

rs1490337819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:2813867 (GRCh38)
20:2794513 (GRCh37)
Canonical SPDI:: NC_000020.11:2813866:T:A,NC_000020.11:2813866:T:C
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2813867T>A, NC_000020.11:g.2813867T>C, NC_000020.10:g.2794513T>A, NC_000020.10:g.2794513T>C, NG_053067.1:g.3881T>A, NG_053067.1:g.3881T>C

Select item 14892191433.

rs1489219143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2815175 (GRCh38)
20:2795821 (GRCh37)
Canonical SPDI:: NC_000020.11:2815174:A:G
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2815175A>G, NC_000020.10:g.2795821A>G, NG_053067.1:g.5189A>G, NM_080739.2:c.-10A>G, NM_001256538.2:c.-10A>G, NM_001256538.1:c.-10A>G

Select item 14888965734.

rs1488896573 [Homo sapiens]

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

Select item 14866068215.

rs1486606821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2813210 (GRCh38)
20:2793856 (GRCh37)
Canonical SPDI:: NC_000020.11:2813209:T:C
Gene:: C20orf141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.2813210T>C, NC_000020.10:g.2793856T>C, NG_053067.1:g.3224T>C

Select item 14859600876.

rs1485960087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:2815957 (GRCh38)
20:2796603 (GRCh37)
Canonical SPDI:: NC_000020.11:2815956:A:C
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.2815957A>C, NC_000020.10:g.2796603A>C, NG_053067.1:g.5971A>C, XM_011529128.3:c.-378A>C, XM_011529128.2:c.-378A>C, XM_011529128.1:c.-378A>C

Select item 14851570157.

rs1485157015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2815838 (GRCh38)
20:2796484 (GRCh37)
Canonical SPDI:: NC_000020.11:2815837:C:T
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.2815838C>T, NC_000020.10:g.2796484C>T, NG_053067.1:g.5852C>T, XM_047439814.1:c.-37C>T

Select item 14832135338.

rs1483213533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:2813908 (GRCh38)
20:2794554 (GRCh37)
Canonical SPDI:: NC_000020.11:2813907:G:T
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.2813908G>T, NC_000020.10:g.2794554G>T, NG_053067.1:g.3922G>T

Select item 14823210749.

rs1482321074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:2815836 (GRCh38)
20:2796482 (GRCh37)
Canonical SPDI:: NC_000020.11:2815835:C:G,NC_000020.11:2815835:C:T
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.2815836C>G, NC_000020.11:g.2815836C>T, NC_000020.10:g.2796482C>G, NC_000020.10:g.2796482C>T, NG_053067.1:g.5850C>G, NG_053067.1:g.5850C>T, XM_047439814.1:c.-39C>G, XM_047439814.1:c.-39C>T

Select item 148134396910.

rs1481343969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2814834 (GRCh38)
20:2795480 (GRCh37)
Canonical SPDI:: NC_000020.11:2814833:A:G
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2814834A>G, NC_000020.10:g.2795480A>G, NG_053067.1:g.4848A>G

Select item 148124758511.

rs1481247585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2815762 (GRCh38)
20:2796408 (GRCh37)
Canonical SPDI:: NC_000020.11:2815761:A:G
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2815762A>G, NC_000020.10:g.2796408A>G, NG_053067.1:g.5776A>G, NM_080739.2:c.485A>G, NM_001256538.2:c.485A>G, NM_001256538.1:c.485A>G, NP_542777.1:p.His162Arg, NP_001243467.1:p.His162Arg

Select item 148110440912.

rs1481104409 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 20:2816118 (GRCh38)
20:2796764 (GRCh37)
Canonical SPDI:: NC_000020.11:2816117:A:
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000064/17 (TOPMED)
-=0.000078/11 (GnomAD)
HGVS:: NC_000020.11:g.2816118del, NC_000020.10:g.2796764del, NG_053067.1:g.6132del, XM_011529128.3:c.-217del, XM_011529128.2:c.-217del, XM_011529128.1:c.-217del

Select item 147996321913.

rs1479963219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:2815023 (GRCh38)
20:2795669 (GRCh37)
Canonical SPDI:: NC_000020.11:2815022:G:T
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_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.2815023G>T, NC_000020.10:g.2795669G>T, NG_053067.1:g.5037G>T, NM_080739.2:c.-162G>T

Select item 147876628014.

rs1478766280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2814691 (GRCh38)
20:2795337 (GRCh37)
Canonical SPDI:: NC_000020.11:2814690:C:T
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.2814691C>T, NC_000020.10:g.2795337C>T, NG_053067.1:g.4705C>T

Select item 147843591415.

rs1478435914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2814092 (GRCh38)
20:2794738 (GRCh37)
Canonical SPDI:: NC_000020.11:2814091:T:C
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2814092T>C, NC_000020.10:g.2794738T>C, NG_053067.1:g.4106T>C

Select item 147832459616.

rs1478324596 has merged into rs142273057 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2813098 (GRCh38)
20:2793744 (GRCh37)
Canonical SPDI:: NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2813087:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C20orf141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.2813098_2813108del, NC_000020.11:g.2813100_2813108del, NC_000020.11:g.2813101_2813108del, NC_000020.11:g.2813102_2813108del, NC_000020.11:g.2813103_2813108del, NC_000020.11:g.2813104_2813108del, NC_000020.11:g.2813105_2813108del, NC_000020.11:g.2813106_2813108del, NC_000020.11:g.2813107_2813108del, NC_000020.11:g.2813108del, NC_000020.11:g.2813108dup, NC_000020.11:g.2813107_2813108dup, NC_000020.11:g.2813106_2813108dup, NC_000020.11:g.2813105_2813108dup, NC_000020.11:g.2813104_2813108dup, NC_000020.11:g.2813088_2813108A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.2813088_2813108A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.2793744_2793754del, NC_000020.10:g.2793746_2793754del, NC_000020.10:g.2793747_2793754del, NC_000020.10:g.2793748_2793754del, NC_000020.10:g.2793749_2793754del, NC_000020.10:g.2793750_2793754del, NC_000020.10:g.2793751_2793754del, NC_000020.10:g.2793752_2793754del, NC_000020.10:g.2793753_2793754del, NC_000020.10:g.2793754del, NC_000020.10:g.2793754dup, NC_000020.10:g.2793753_2793754dup, NC_000020.10:g.2793752_2793754dup, NC_000020.10:g.2793751_2793754dup, NC_000020.10:g.2793750_2793754dup, NC_000020.10:g.2793734_2793754A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.2793734_2793754A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_053067.1:g.3112_3122del, NG_053067.1:g.3114_3122del, NG_053067.1:g.3115_3122del, NG_053067.1:g.3116_3122del, NG_053067.1:g.3117_3122del, NG_053067.1:g.3118_3122del, NG_053067.1:g.3119_3122del, NG_053067.1:g.3120_3122del, NG_053067.1:g.3121_3122del, NG_053067.1:g.3122del, NG_053067.1:g.3122dup, NG_053067.1:g.3121_3122dup, NG_053067.1:g.3120_3122dup, NG_053067.1:g.3119_3122dup, NG_053067.1:g.3118_3122dup, NG_053067.1:g.3102_3122A[23]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_053067.1:g.3102_3122A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 147686071617.

rs1476860716 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:2814930 (GRCh38)
20:2795577 (GRCh37)
Canonical SPDI:: NC_000020.11:2814930:CCCCC:CCCCCC
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.2814935dup, NC_000020.10:g.2795581dup, NG_053067.1:g.4949dup

Select item 147678035918.

rs1476780359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2813257 (GRCh38)
20:2793903 (GRCh37)
Canonical SPDI:: NC_000020.11:2813256:T:C
Gene:: C20orf141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2813257T>C, NC_000020.10:g.2793903T>C, NG_053067.1:g.3271T>C

Select item 147572178119.

rs1475721781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2814449 (GRCh38)
20:2795095 (GRCh37)
Canonical SPDI:: NC_000020.11:2814448:A:G
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2814449A>G, NC_000020.10:g.2795095A>G, NG_053067.1:g.4463A>G

Select item 147457996720.

rs1474579967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2815932 (GRCh38)
20:2796578 (GRCh37)
Canonical SPDI:: NC_000020.11:2815931:A:G
Gene:: C20orf141 (Varview), TMEM239 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.2815932A>G, NC_000020.10:g.2796578A>G, NG_053067.1:g.5946A>G

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