SNP Links for Gene (Select 100302163) - SNP

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Items: 1 to 20 of 646

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Select item 14889500141.

rs1488950014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:193135975 (GRCh38)
1:193105105 (GRCh37)
Canonical SPDI:: NC_000001.11:193135974:C:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193135975C>A, NC_000001.10:g.193105105C>A, NG_012691.1:g.19018C>A

Select item 14879972342.

rs1487997234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:193136266 (GRCh38)
1:193105396 (GRCh37)
Canonical SPDI:: NC_000001.11:193136265:G:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.193136266G>A, NC_000001.10:g.193105396G>A, NG_012691.1:g.19309G>A

Select item 14877601273.

rs1487760127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:193136559 (GRCh38)
1:193105689 (GRCh37)
Canonical SPDI:: NC_000001.11:193136558:G:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193136559G>A, NC_000001.10:g.193105689G>A, NG_012691.1:g.19602G>A, NR_031691.1:n.57G>A

Select item 14874082364.

rs1487408236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:193135179 (GRCh38)
1:193104309 (GRCh37)
Canonical SPDI:: NC_000001.11:193135178:T:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193135179T>A, NC_000001.10:g.193104309T>A, NG_012691.1:g.18222T>A

Select item 14869499325.

rs1486949932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:193136067 (GRCh38)
1:193105197 (GRCh37)
Canonical SPDI:: NC_000001.11:193136066:T:G
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.193136067T>G, NC_000001.10:g.193105197T>G, NG_012691.1:g.19110T>G

Select item 14860861186.

rs1486086118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:193136022 (GRCh38)
1:193105152 (GRCh37)
Canonical SPDI:: NC_000001.11:193136021:C:G,NC_000001.11:193136021:C:T
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.193136022C>G, NC_000001.11:g.193136022C>T, NC_000001.10:g.193105152C>G, NC_000001.10:g.193105152C>T, NG_012691.1:g.19065C>G, NG_012691.1:g.19065C>T

Select item 14835077607.

rs1483507760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:193136167 (GRCh38)
1:193105297 (GRCh37)
Canonical SPDI:: NC_000001.11:193136166:A:C
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.193136167A>C, NC_000001.10:g.193105297A>C, NG_012691.1:g.19210A>C

Select item 14824739448.

rs1482473944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 1:193134829 (GRCh38)
1:193103960 (GRCh37)
Canonical SPDI:: NC_000001.11:193134829:AG:AGGAG
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGGAG=0.000071/1 (ALFA)
AGG=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.193134831_193134832insGAG, NC_000001.10:g.193103961_193103962insGAG, NG_012691.1:g.17874_17875insGAG

Select item 14823290989.

rs1482329098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:193135771 (GRCh38)
1:193104901 (GRCh37)
Canonical SPDI:: NC_000001.11:193135770:A:G
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.193135771A>G, NC_000001.10:g.193104901A>G, NG_012691.1:g.18814A>G

Select item 148202102810.

rs1482021028 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 1:193136427 (GRCh38)
1:193105557 (GRCh37)
Canonical SPDI:: NC_000001.11:193136421:ATGATGAT:ATGAT
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGAT=0.000071/1 (ALFA)
-=0.000185/26 (GnomAD)
-=0.000185/49 (TOPMED)
HGVS:: NC_000001.11:g.193136424GAT[1], NC_000001.10:g.193105554GAT[1], NG_012691.1:g.19467GAT[1]

Select item 148062161111.

rs1480621611 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:193134962 (GRCh38)
1:193104093 (GRCh37)
Canonical SPDI:: NC_000001.11:193134962:TTTTTT:TTTTTTT
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.193134968dup, NC_000001.10:g.193104098dup, NG_012691.1:g.18011dup

Select item 147863067112.

rs1478630671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:193134949 (GRCh38)
1:193104079 (GRCh37)
Canonical SPDI:: NC_000001.11:193134948:T:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.193134949T>A, NC_000001.10:g.193104079T>A, NG_012691.1:g.17992T>A

Select item 147791902313.

rs1477919023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:193136714 (GRCh38)
1:193105844 (GRCh37)
Canonical SPDI:: NC_000001.11:193136713:G:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193136714G>A, NC_000001.10:g.193105844G>A, NG_012691.1:g.19757G>A

Select item 147739984414.

rs1477399844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:193135751 (GRCh38)
1:193104881 (GRCh37)
Canonical SPDI:: NC_000001.11:193135750:T:A,NC_000001.11:193135750:T:C
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193135751T>A, NC_000001.11:g.193135751T>C, NC_000001.10:g.193104881T>A, NC_000001.10:g.193104881T>C, NG_012691.1:g.18794T>A, NG_012691.1:g.18794T>C

Select item 147699338215.

rs1476993382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:193135296 (GRCh38)
1:193104426 (GRCh37)
Canonical SPDI:: NC_000001.11:193135295:G:A
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193135296G>A, NC_000001.10:g.193104426G>A, NG_012691.1:g.18339G>A

Select item 147594669916.

rs1475946699 has merged into rs1038256301 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:193135877 (GRCh38)
1:193105007 (GRCh37)
Canonical SPDI:: NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:193135868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.193135877_193135886del, NC_000001.11:g.193135882_193135886del, NC_000001.11:g.193135883_193135886del, NC_000001.11:g.193135884_193135886del, NC_000001.11:g.193135885_193135886del, NC_000001.11:g.193135886del, NC_000001.11:g.193135886dup, NC_000001.11:g.193135885_193135886dup, NC_000001.11:g.193135884_193135886dup, NC_000001.11:g.193135880_193135886dup, NC_000001.11:g.193135878_193135886dup, NC_000001.11:g.193135877_193135886dup, NC_000001.10:g.193105007_193105016del, NC_000001.10:g.193105012_193105016del, NC_000001.10:g.193105013_193105016del, NC_000001.10:g.193105014_193105016del, NC_000001.10:g.193105015_193105016del, NC_000001.10:g.193105016del, NC_000001.10:g.193105016dup, NC_000001.10:g.193105015_193105016dup, NC_000001.10:g.193105014_193105016dup, NC_000001.10:g.193105010_193105016dup, NC_000001.10:g.193105008_193105016dup, NC_000001.10:g.193105007_193105016dup, NG_012691.1:g.18920_18929del, NG_012691.1:g.18925_18929del, NG_012691.1:g.18926_18929del, NG_012691.1:g.18927_18929del, NG_012691.1:g.18928_18929del, NG_012691.1:g.18929del, NG_012691.1:g.18929dup, NG_012691.1:g.18928_18929dup, NG_012691.1:g.18927_18929dup, NG_012691.1:g.18923_18929dup, NG_012691.1:g.18921_18929dup, NG_012691.1:g.18920_18929dup

Select item 147579322817.

rs1475793228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:193135405 (GRCh38)
1:193104535 (GRCh37)
Canonical SPDI:: NC_000001.11:193135404:A:G
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.193135405A>G, NC_000001.10:g.193104535A>G, NG_012691.1:g.18448A>G, NM_024529.5:c.322A>G, NM_024529.4:c.322A>G, XM_006711537.5:c.322A>G, XM_006711537.4:c.322A>G, XM_006711537.3:c.322A>G, XM_006711537.2:c.322A>G, XM_006711537.1:c.322A>G, NP_078805.3:p.Ile108Val, XP_006711600.1:p.Ile108Val

Select item 147232274318.

rs1472322743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:193135196 (GRCh38)
1:193104326 (GRCh37)
Canonical SPDI:: NC_000001.11:193135195:C:T
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.193135196C>T, NC_000001.10:g.193104326C>T, NG_012691.1:g.18239C>T

Select item 147060002119.

rs1470600021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:193134523 (GRCh38)
1:193103653 (GRCh37)
Canonical SPDI:: NC_000001.11:193134522:T:C
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.193134523T>C, NC_000001.10:g.193103653T>C, NG_012691.1:g.17566T>C

Select item 146895834920.

rs1468958349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:193135008 (GRCh38)
1:193104138 (GRCh37)
Canonical SPDI:: NC_000001.11:193135007:A:C
Gene:: CDC73 (Varview), MIR1278 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.193135008A>C, NC_000001.10:g.193104138A>C, NG_012691.1:g.18051A>C

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