SNP Links for Gene (Select 1028) - SNP

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Select item 14914655901.

rs1491465590 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:2886125 (GRCh38)
11:2907355 (GRCh37)
Canonical SPDI:: NC_000011.10:2886124:AT:
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000584/77 (GnomAD)
-=0.00464/78 (TOMMO)
HGVS:: NC_000011.10:g.2886125_2886126del, NC_000011.9:g.2907355_2907356del, NG_008022.1:g.4640_4641del, NT_187585.1:g.118336_118337del

Select item 14914255002.

rs1491425500 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:2883626 (GRCh38)
11:2904856 (GRCh37)
Canonical SPDI:: NC_000011.10:2883624:TCT:T
Gene:: CDKN1C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.2883626_2883627del, NC_000011.9:g.2904856_2904857del, NG_008022.1:g.7140_7141del, NM_001362474.2:c.*290_*291del, NM_001362474.1:c.*290_*291del, NM_000076.2:c.*295_*296del, NM_001122630.2:c.*295_*296del, NM_001122630.1:c.*295_*296del, NM_001122631.2:c.*290_*291del, NM_001122631.1:c.*290_*291del, NM_001362475.2:c.*148_*149del, NM_001362475.1:c.*148_*149del, NT_187585.1:g.115805_115806del

Select item 14913408883.

rs1491340888 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:2883625 (GRCh38)
11:2904856 (GRCh37)
Canonical SPDI:: NC_000011.10:2883625:C:CC
Gene:: CDKN1C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2883626dup, NC_000011.9:g.2904856dup, NG_008022.1:g.7140dup, NM_001362474.2:c.*290dup, NM_001362474.1:c.*290dup, NM_000076.2:c.*295dup, NM_001122630.2:c.*295dup, NM_001122630.1:c.*295dup, NM_001122631.2:c.*290dup, NM_001122631.1:c.*290dup, NM_001362475.2:c.*148dup, NM_001362475.1:c.*148dup, NT_187585.1:g.115805dup

Select item 14912221344.

rs1491222134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:2886125 (GRCh38)
11:2907356 (GRCh37)
Canonical SPDI:: NC_000011.10:2886125:T:TT
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00018/1 (GnomAD)
HGVS:: NC_000011.10:g.2886126dup, NC_000011.9:g.2907356dup, NG_008022.1:g.4640dup, NT_187585.1:g.118337dup

Select item 14906009445.

rs1490600944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2883968 (GRCh38)
11:2905198 (GRCh37)
Canonical SPDI:: NC_000011.10:2883967:C:G
Gene:: CDKN1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2883968C>G, NC_000011.9:g.2905198C>G, NG_008022.1:g.6798G>C, NT_187585.1:g.116147C>G

Select item 14904168746.

rs1490416874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2887625 (GRCh38)
11:2908855 (GRCh37)
Canonical SPDI:: NC_000011.10:2887624:A:G
Gene:: CDKN1C (Varview), SLC22A18AS (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.2887625A>G, NC_000011.9:g.2908855A>G, NG_008022.1:g.3141T>C, NT_187585.1:g.119836A>G, NM_007105.4:c.*555T>C, NM_007105.3:c.*555T>C, NM_001302862.2:c.*555T>C, XR_001756334.3:n.1036A>G, XR_001756334.2:n.1021A>G, XR_001756334.1:n.1020A>G, NR_169304.1:n.1649T>C, NM_001302862.1:c.*555T>C, NR_169305.1:n.1254T>C

Select item 14903437517.

rs1490343751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:2882949 (GRCh38)
11:2904179 (GRCh37)
Canonical SPDI:: NC_000011.10:2882948:G:A,NC_000011.10:2882948:G:C
Gene:: CDKN1C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2882949G>A, NC_000011.10:g.2882949G>C, NC_000011.9:g.2904179G>A, NC_000011.9:g.2904179G>C, NG_008022.1:g.7817C>T, NG_008022.1:g.7817C>G, NT_187585.1:g.115128G>A, NT_187585.1:g.115128G>C

Select item 14896597578.

rs1489659757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2884888 (GRCh38)
11:2906118 (GRCh37)
Canonical SPDI:: NC_000011.10:2884887:G:A
Gene:: CDKN1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/3 (GnomAD)
HGVS:: NC_000011.10:g.2884888G>A, NC_000011.9:g.2906118G>A, NG_008022.1:g.5878C>T, NM_001362474.2:c.602C>T, NM_001362474.1:c.602C>T, NM_000076.2:c.602C>T, NM_001122630.2:c.569C>T, NM_001122630.1:c.569C>T, NM_001122631.2:c.569C>T, NM_001122631.1:c.569C>T, NT_187585.1:g.117098G>A, NP_001349403.1:p.Ala201Val, NP_000067.1:p.Ala201Val, NP_001116102.1:p.Ala190Val, NP_001116103.1:p.Ala190Val

Select item 14895468689.

rs1489546868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2886220 (GRCh38)
11:2907450 (GRCh37)
Canonical SPDI:: NC_000011.10:2886219:G:A
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2886220G>A, NC_000011.9:g.2907450G>A, NG_008022.1:g.4546C>T, NT_187585.1:g.118431G>A

Select item 148945020310.

rs1489450203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2885142 (GRCh38)
11:2906372 (GRCh37)
Canonical SPDI:: NC_000011.10:2885141:G:A,NC_000011.10:2885141:G:T
Gene:: CDKN1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
HGVS:: NC_000011.10:g.2885142G>A, NC_000011.10:g.2885142G>T, NC_000011.9:g.2906372G>A, NC_000011.9:g.2906372G>T, NG_008022.1:g.5624C>T, NG_008022.1:g.5624C>A, NM_001362474.2:c.348C>T, NM_001362474.2:c.348C>A, NM_001362474.1:c.348C>T, NM_001362474.1:c.348C>A, NM_000076.2:c.348C>T, NM_000076.2:c.348C>A, NM_001122630.2:c.315C>T, NM_001122630.2:c.315C>A, NM_001122630.1:c.315C>T, NM_001122630.1:c.315C>A, NM_001122631.2:c.315C>T, NM_001122631.2:c.315C>A, NM_001122631.1:c.315C>T, NM_001122631.1:c.315C>A, NT_187585.1:g.117352G>A, NT_187585.1:g.117352G>T, NP_001349403.1:p.Ser116Arg, NP_000067.1:p.Ser116Arg, NP_001116102.1:p.Ser105Arg, NP_001116103.1:p.Ser105Arg

Select item 148905269111.

rs1489052691 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:2886818 (GRCh38)
11:2908048 (GRCh37)
Canonical SPDI:: NC_000011.10:2886817:TT:T
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2886819del, NC_000011.9:g.2908049del, NG_008022.1:g.3948del, NT_187585.1:g.119030del, XR_001756334.3:n.586del, XR_001756334.2:n.571del, XR_001756334.1:n.570del

Select item 148841911512.

rs1488419115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2885884 (GRCh38)
11:2907114 (GRCh37)
Canonical SPDI:: NC_000011.10:2885883:G:A,NC_000011.10:2885883:G:T
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2885884G>A, NC_000011.10:g.2885884G>T, NC_000011.9:g.2907114G>A, NC_000011.9:g.2907114G>T, NG_008022.1:g.4882C>T, NG_008022.1:g.4882C>A, NT_187585.1:g.118094G>A, NT_187585.1:g.118094G>T

Select item 148781704113.

rs1487817041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2885426 (GRCh38)
11:2906656 (GRCh37)
Canonical SPDI:: NC_000011.10:2885425:G:C
Gene:: CDKN1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000054/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2885426G>C, NC_000011.9:g.2906656G>C, NG_008022.1:g.5340C>G, NM_001362474.2:c.64C>G, NM_001362474.1:c.64C>G, NM_000076.2:c.64C>G, NM_001122630.2:c.31C>G, NM_001122630.1:c.31C>G, NM_001122631.2:c.31C>G, NM_001122631.1:c.31C>G, NM_001362475.2:c.31C>G, NM_001362475.1:c.31C>G, NT_187585.1:g.117636G>C, NP_001349403.1:p.Pro22Ala, NP_000067.1:p.Pro22Ala, NP_001116102.1:p.Pro11Ala, NP_001116103.1:p.Pro11Ala, NP_001349404.1:p.Pro11Ala

Select item 148728758014.

rs1487287580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2887298 (GRCh38)
11:2908528 (GRCh37)
Canonical SPDI:: NC_000011.10:2887297:G:A
Gene:: CDKN1C (Varview), SLC22A18AS (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2887298G>A, NC_000011.9:g.2908528G>A, NG_008022.1:g.3468C>T, NT_187585.1:g.119509G>A

Select item 148702915915.

rs1487029159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2886781 (GRCh38)
11:2908011 (GRCh37)
Canonical SPDI:: NC_000011.10:2886780:G:T
Gene:: CDKN1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.2886781G>T, NC_000011.9:g.2908011G>T, NG_008022.1:g.3985C>A, NT_187585.1:g.118992G>T, XR_001756334.3:n.548G>T, XR_001756334.2:n.533G>T, XR_001756334.1:n.532G>T

Select item 148693306516.

rs1486933065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCCGGAGCCGGGGCCGGGGCCGG>-,AGCCGGAGCCGGGGCCGGGGCCGGAGCCGGAGCCGGGGCCGGGGCCGG [Show Flanks]
Chromosome:: 11:2884929 (GRCh38)
11:2906159 (GRCh37)
Canonical SPDI:: NC_000011.10:2884923:GCCGGAGCCGGAGCCGGGGCCGGGGCCGG:GCCGG,NC_000011.10:2884923:GCCGGAGCCGGAGCCGGGGCCGGGGCCGG:GCCGGAGCCGGAGCCGGGGCCGGGGCCGGAGCCGGAGCCGGGGCCGGGGCCGG
Gene:: CDKN1C (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,intron_variant,inframe_deletion
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.2884929_2884952del, NC_000011.10:g.2884929_2884952dup, NC_000011.9:g.2906159_2906182del, NC_000011.9:g.2906159_2906182dup, NG_008022.1:g.5819_5842del, NG_008022.1:g.5819_5842dup, NM_001362474.2:c.543_566del, NM_001362474.2:c.543_566dup, NM_001362474.1:c.543_566del, NM_001362474.1:c.543_566dup, NM_000076.2:c.543_566del, NM_000076.2:c.543_566dup, NM_001122630.2:c.510_533del, NM_001122630.2:c.510_533dup, NM_001122630.1:c.510_533del, NM_001122630.1:c.510_533dup, NM_001122631.2:c.510_533del, NM_001122631.2:c.510_533dup, NM_001122631.1:c.510_533del, NM_001122631.1:c.510_533dup, NT_187585.1:g.117139_117162del, NT_187585.1:g.117139_117162dup, NP_001349403.1:p.179AP[4], NP_001349403.1:p.179AP[12], NP_000067.1:p.179AP[4], NP_000067.1:p.179AP[12], NP_001116102.1:p.168AP[4], NP_001116102.1:p.168AP[12], NP_001116103.1:p.168AP[4], NP_001116103.1:p.168AP[12]

Select item 148640233917.

rs1486402339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:2885040 (GRCh38)
11:2906270 (GRCh37)
Canonical SPDI:: NC_000011.10:2885039:T:A,NC_000011.10:2885039:T:G
Gene:: CDKN1C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000102/27 (TOPMED)
A=0.000104/14 (GnomAD)
HGVS:: NC_000011.10:g.2885040T>A, NC_000011.10:g.2885040T>G, NC_000011.9:g.2906270T>A, NC_000011.9:g.2906270T>G, NG_008022.1:g.5726A>T, NG_008022.1:g.5726A>C, NM_001362474.2:c.450A>T, NM_001362474.2:c.450A>C, NM_001362474.1:c.450A>T, NM_001362474.1:c.450A>C, NM_000076.2:c.450A>T, NM_000076.2:c.450A>C, NM_001122630.2:c.417A>T, NM_001122630.2:c.417A>C, NM_001122630.1:c.417A>T, NM_001122630.1:c.417A>C, NM_001122631.2:c.417A>T, NM_001122631.2:c.417A>C, NM_001122631.1:c.417A>T, NM_001122631.1:c.417A>C, NT_187585.1:g.117250T>A, NT_187585.1:g.117250T>G

Select item 148612178618.

rs1486121786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:2883461 (GRCh38)
11:2904691 (GRCh37)
Canonical SPDI:: NC_000011.10:2883460:A:C
Gene:: CDKN1C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
C=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.2883461A>C, NC_000011.9:g.2904691A>C, NG_008022.1:g.7305T>G, NM_001362474.2:c.*455T>G, NM_001362474.1:c.*455T>G, NM_000076.2:c.*460T>G, NM_001122630.2:c.*460T>G, NM_001122630.1:c.*460T>G, NM_001122631.2:c.*455T>G, NM_001122631.1:c.*455T>G, NM_001362475.2:c.*313T>G, NM_001362475.1:c.*313T>G, NT_187585.1:g.115640A>C

Select item 148601959619.

rs1486019596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2885149 (GRCh38)
11:2906379 (GRCh37)
Canonical SPDI:: NC_000011.10:2885148:G:A
Gene:: CDKN1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.2885149G>A, NC_000011.9:g.2906379G>A, NG_008022.1:g.5617C>T, NM_001362474.2:c.341C>T, NM_001362474.1:c.341C>T, NM_000076.2:c.341C>T, NM_001122630.2:c.308C>T, NM_001122630.1:c.308C>T, NM_001122631.2:c.308C>T, NM_001122631.1:c.308C>T, NT_187585.1:g.117359G>A, NP_001349403.1:p.Ala114Val, NP_000067.1:p.Ala114Val, NP_001116102.1:p.Ala103Val, NP_001116103.1:p.Ala103Val

Select item 148598613620.

rs1485986136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2884223 (GRCh38)
11:2905453 (GRCh37)
Canonical SPDI:: NC_000011.10:2884222:G:A
Gene:: CDKN1C (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_000011.10:g.2884223G>A, NC_000011.9:g.2905453G>A, NG_008022.1:g.6543C>T, NT_187585.1:g.116402G>A

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