SNP Links for Gene (Select 10969) - SNP

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Select item 14909725251.

rs1490972525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43169216 (GRCh38)
1:43634887 (GRCh37)
Canonical SPDI:: NC_000001.11:43169215:C:T
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.43169216C>T, NC_000001.10:g.43634887C>T, NG_028079.2:g.1887C>T

Select item 14909596442.

rs1490959644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:43171770 (GRCh38)
1:43637441 (GRCh37)
Canonical SPDI:: NC_000001.11:43171769:C:A,NC_000001.11:43171769:C:T
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43171770C>A, NC_000001.11:g.43171770C>T, NC_000001.10:g.43637441C>A, NC_000001.10:g.43637441C>T, NG_028079.2:g.4441C>A, NG_028079.2:g.4441C>T

Select item 14906074213.

rs1490607421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43165730 (GRCh38)
1:43631401 (GRCh37)
Canonical SPDI:: NC_000001.11:43165729:T:C
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.43165730T>C, NC_000001.10:g.43631401T>C

Select item 14904675354.

rs1490467535 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:43172563 (GRCh38)
1:43638234 (GRCh37)
Canonical SPDI:: NC_000001.11:43172562:GGGGG:GGGG
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.00013/2 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.43172567del, NC_000001.10:g.43638238del, NG_028079.2:g.5238del, NM_001159936.1:c.-142del

Select item 14902041515.

rs1490204151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43171645 (GRCh38)
1:43637316 (GRCh37)
Canonical SPDI:: NC_000001.11:43171644:G:C
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43171645G>C, NC_000001.10:g.43637316G>C, NG_028079.2:g.4316G>C, NM_006824.3:c.157C>G, NM_006824.2:c.157C>G, NM_001159936.1:c.322C>G, XM_047441489.1:c.157C>G, NP_006815.2:p.Leu53Val, NP_001153408.1:p.Leu108Val, XP_047297445.1:p.Leu53Val

Select item 14901283206.

rs1490128320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43170360 (GRCh38)
1:43636031 (GRCh37)
Canonical SPDI:: NC_000001.11:43170359:A:G
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43170360A>G, NC_000001.10:g.43636031A>G, NG_028079.2:g.3031A>G

Select item 14898264477.

rs1489826447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:43164757 (GRCh38)
1:43630428 (GRCh37)
Canonical SPDI:: NC_000001.11:43164756:T:G
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43164757T>G, NC_000001.10:g.43630428T>G, NM_006824.3:c.756A>C, NM_006824.2:c.756A>C, NM_001159936.1:c.921A>C, XM_047441489.1:c.756A>C

Select item 14897042498.

rs1489704249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43170850 (GRCh38)
1:43636521 (GRCh37)
Canonical SPDI:: NC_000001.11:43170849:G:T
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.43170850G>T, NC_000001.10:g.43636521G>T, NG_028079.2:g.3521G>T, NM_006824.3:c.353C>A, NM_006824.2:c.353C>A, NM_001159936.1:c.518C>A, XM_047441489.1:c.353C>A, NP_006815.2:p.Ala118Glu, NP_001153408.1:p.Ala173Glu, XP_047297445.1:p.Ala118Glu

Select item 14893559019.

rs1489355901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43167872 (GRCh38)
1:43633543 (GRCh37)
Canonical SPDI:: NC_000001.11:43167871:G:A
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43167872G>A, NC_000001.10:g.43633543G>A, NG_028079.2:g.543G>A

Select item 148917334010.

rs1489173340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43167417 (GRCh38)
1:43633088 (GRCh37)
Canonical SPDI:: NC_000001.11:43167416:A:G
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000212/4 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.43167417A>G, NC_000001.10:g.43633088A>G, NG_028079.2:g.88A>G

Select item 148907803811.

rs1489078038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43164699 (GRCh38)
1:43630370 (GRCh37)
Canonical SPDI:: NC_000001.11:43164698:G:A
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.43164699G>A, NC_000001.10:g.43630370G>A, NM_006824.3:c.814C>T, NM_006824.2:c.814C>T, NM_001159936.1:c.979C>T, XM_047441489.1:c.814C>T, NP_006815.2:p.Arg272Trp, NP_001153408.1:p.Arg327Trp, XP_047297445.1:p.Arg272Trp

Select item 148884932312.

rs1488849323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:43167810 (GRCh38)
1:43633481 (GRCh37)
Canonical SPDI:: NC_000001.11:43167809:A:T
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.43167810A>T, NC_000001.10:g.43633481A>T, NG_028079.2:g.481A>T

Select item 148837928813.

rs1488379288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43165866 (GRCh38)
1:43631537 (GRCh37)
Canonical SPDI:: NC_000001.11:43165865:T:C
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43165866T>C, NC_000001.10:g.43631537T>C

Select item 148763682114.

rs1487636821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:43172989 (GRCh38)
1:43638660 (GRCh37)
Canonical SPDI:: NC_000001.11:43172988:A:C
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.43172989A>C, NC_000001.10:g.43638660A>C, NG_028079.2:g.5660A>C

Select item 148744077915.

rs1487440779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43169457 (GRCh38)
1:43635128 (GRCh37)
Canonical SPDI:: NC_000001.11:43169456:G:A
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.43169457G>A, NC_000001.10:g.43635128G>A, NG_028079.2:g.2128G>A

Select item 148729957216.

rs1487299572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43165027 (GRCh38)
1:43630698 (GRCh37)
Canonical SPDI:: NC_000001.11:43165026:G:C
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.43165027G>C, NC_000001.10:g.43630698G>C

Select item 148717041717.

rs1487170417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:43166248 (GRCh38)
1:43631919 (GRCh37)
Canonical SPDI:: NC_000001.11:43166247:C:G,NC_000001.11:43166247:C:T
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_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_000001.11:g.43166248C>G, NC_000001.11:g.43166248C>T, NC_000001.10:g.43631919C>G, NC_000001.10:g.43631919C>T

Select item 148674206318.

rs1486742063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43172410 (GRCh38)
1:43638081 (GRCh37)
Canonical SPDI:: NC_000001.11:43172409:C:T
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43172410C>T, NC_000001.10:g.43638081C>T, NG_028079.2:g.5081C>T, NM_001195831.3:c.-66C>T, NM_001195831.2:c.-66C>T, NM_152498.3:c.-66C>T, NM_001378189.1:c.-63C>T, NM_001167965.1:c.-63C>T, XM_017000422.3:c.-63C>T, XM_017000422.2:c.-63C>T, XM_017000422.1:c.-63C>T, XM_011540800.3:c.-63C>T, XM_011540800.2:c.-63C>T, XM_011540800.1:c.-63C>T, XM_011540796.2:c.-190C>T, XM_006710383.2:c.-187C>T, XM_006710383.1:c.-187C>T, XM_011540798.2:c.-63C>T, XM_011540798.1:c.-63C>T, XM_011540799.2:c.-63C>T, XM_011540799.1:c.-63C>T, XM_011540793.1:c.-66C>T, XM_047447334.1:c.-66C>T, NR_030778.1:n.81C>T, XM_047447336.1:c.-63C>T, NM_001159936.1:c.12G>A

Select item 148634245019.

rs1486342450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43171741 (GRCh38)
1:43637412 (GRCh37)
Canonical SPDI:: NC_000001.11:43171740:A:G
Gene:: EBNA1BP2 (Varview), CFAP57 (Varview), MIR6733 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43171741A>G, NC_000001.10:g.43637412A>G, NG_028079.2:g.4412A>G

Select item 148625450820.

rs1486254508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43164873 (GRCh38)
1:43630544 (GRCh37)
Canonical SPDI:: NC_000001.11:43164872:T:C
Gene:: EBNA1BP2 (Varview)
Functional Consequence:: intron_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_000001.11:g.43164873T>C, NC_000001.10:g.43630544T>C

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