SNP Links for Gene (Select 27141) - SNP

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:24312047 (GRCh38)
14:24781254 (GRCh37)
Canonical SPDI:: NC_000014.9:24312047:TT:TTT
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24312049dup, NW_018654722.1:g.613027dup, NC_000014.8:g.24781255dup, NM_019839.4:c.*308dup, NM_001164692.2:c.*308dup, NM_001164693.1:c.*141dup

Select item 14884112507.

rs1488411250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24305970 (GRCh38)
14:24775176 (GRCh37)
Canonical SPDI:: NC_000014.9:24305969:T:C
Gene:: CIDEB (Varview), NOP9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24305970T>C, NW_018654722.1:g.606948T>C, NC_000014.8:g.24775176T>C, NM_014430.4:c.504A>G, NM_014430.3:c.504A>G, NM_014430.2:c.504A>G, NM_174913.3:c.*875T>C, NM_174913.2:c.*875T>C, XM_011536526.3:c.*875T>C, XM_011536526.2:c.*875T>C, XM_011536526.1:c.*875T>C, NM_001318807.3:c.504A>G, NM_001318807.2:c.504A>G, NM_001318807.1:c.504A>G, XM_005267385.2:c.*875T>C, XM_005267385.1:c.*875T>C, NM_001286367.2:c.*1012T>C, NM_001286367.1:c.*1012T>C, XM_047431054.1:c.*875T>C, XM_047431053.1:c.*875T>C, XM_047431055.1:c.*875T>C, NM_001393334.1:c.504A>G, NM_001393338.1:c.504A>G, NM_001393337.1:c.504A>G, NM_001393335.1:c.504A>G, NM_001393336.1:c.504A>G, NM_001393339.1:c.504A>G, NM_001393340.1:c.354A>G, XM_047431052.1:c.*875T>C

Select item 14882733418.

rs1488273341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:24306606 (GRCh38)
14:24775812 (GRCh37)
Canonical SPDI:: NC_000014.9:24306605:T:A,NC_000014.9:24306605:T:C
Gene:: CIDEB (Varview), NOP9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.24306606T>A, NC_000014.9:g.24306606T>C, NW_018654722.1:g.607584T>A, NW_018654722.1:g.607584T>C, NC_000014.8:g.24775812T>A, NC_000014.8:g.24775812T>C, NM_174913.3:c.*1511T>A, NM_174913.3:c.*1511T>C, NM_174913.2:c.*1511T>A, NM_174913.2:c.*1511T>C, XM_011536526.3:c.*1511T>A, XM_011536526.3:c.*1511T>C, XM_011536526.2:c.*1511T>A, XM_011536526.2:c.*1511T>C, XM_011536526.1:c.*1511T>A, XM_011536526.1:c.*1511T>C, XM_005267385.2:c.*1511T>A, XM_005267385.2:c.*1511T>C, XM_005267385.1:c.*1511T>A, XM_005267385.1:c.*1511T>C, NM_001286367.2:c.*1648T>A, NM_001286367.2:c.*1648T>C, NM_001286367.1:c.*1648T>A, NM_001286367.1:c.*1648T>C, XM_047431054.1:c.*1511T>A, XM_047431054.1:c.*1511T>C, XM_047431053.1:c.*1511T>A, XM_047431053.1:c.*1511T>C, XM_047431055.1:c.*1511T>A, XM_047431055.1:c.*1511T>C, XM_047431052.1:c.*1511T>A, XM_047431052.1:c.*1511T>C

Select item 14882575809.

rs1488257580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24308712 (GRCh38)
14:24777918 (GRCh37)
Canonical SPDI:: NC_000014.9:24308711:A:G
Gene:: CIDEB (Varview), LTB4R2 (Varview), NOP9 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_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_000014.9:g.24308712A>G, NW_018654722.1:g.609690A>G, NC_000014.8:g.24777918A>G, NM_014430.4:c.-296T>C, NM_014430.3:c.-296T>C, NM_014430.2:c.-296T>C, NM_174913.3:c.*3617A>G, NM_174913.2:c.*3617A>G, XM_011536526.3:c.*3617A>G, NM_001318807.3:c.-296T>C, NM_001318807.2:c.-296T>C, NM_001318807.1:c.-296T>C, XM_005267385.2:c.*3617A>G, NM_001286367.2:c.*3754A>G, NM_001286367.1:c.*3754A>G, XM_047431054.1:c.*3617A>G, XM_047431053.1:c.*3617A>G, NM_001393334.1:c.-296T>C, NM_001393337.1:c.-296T>C, NM_001393335.1:c.-329T>C, NM_001393336.1:c.-296T>C, XM_047431052.1:c.*3617A>G, XM_047431055.1:c.*3617A>G, NM_001393338.1:c.-329T>C

Select item 148753968910.

rs1487539689 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:24306468 (GRCh38)
14:24775674 (GRCh37)
Canonical SPDI:: NC_000014.9:24306467:CC:C
Gene:: CIDEB (Varview), NOP9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24306469del, NW_018654722.1:g.607447del, NC_000014.8:g.24775675del, NM_014430.4:c.242del, NM_014430.3:c.242del, NM_014430.2:c.242del, NM_174913.3:c.*1374del, NM_174913.2:c.*1374del, XM_011536526.3:c.*1374del, XM_011536526.2:c.*1374del, XM_011536526.1:c.*1374del, NM_001318807.3:c.242del, NM_001318807.2:c.242del, NM_001318807.1:c.242del, XM_005267385.2:c.*1374del, XM_005267385.1:c.*1374del, NM_001286367.2:c.*1511del, NM_001286367.1:c.*1511del, XM_047431054.1:c.*1374del, XM_047431053.1:c.*1374del, XM_047431055.1:c.*1374del, NM_001393334.1:c.242del, NM_001393338.1:c.242del, NM_001393337.1:c.242del, NM_001393335.1:c.242del, NM_001393336.1:c.242del, NM_001393339.1:c.242del, XM_047431052.1:c.*1374del, NP_055245.2:p.Gly81fs, NP_001305736.1:p.Gly81fs, NP_001380263.1:p.Gly81fs, NP_001380267.1:p.Gly81fs, NP_001380266.1:p.Gly81fs, NP_001380264.1:p.Gly81fs, NP_001380265.1:p.Gly81fs, NP_001380268.1:p.Gly81fs

Select item 148675073411.

rs1486750734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24312839 (GRCh38)
14:24782045 (GRCh37)
Canonical SPDI:: NC_000014.9:24312838:T:C
Gene:: LTB4R (Varview), CIDEB (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000014.9:g.24312839T>C, NW_018654722.1:g.613817T>C, NC_000014.8:g.24782045T>C

Select item 148675027612.

rs1486750276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24311336 (GRCh38)
14:24780542 (GRCh37)
Canonical SPDI:: NC_000014.9:24311335:G:C
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24311336G>C, NW_018654722.1:g.612314G>C, NC_000014.8:g.24780542G>C, NM_019839.5:c.672G>C, NM_019839.4:c.672G>C, NM_014430.4:c.-1102C>G, NM_014430.3:c.-1102C>G, NM_014430.2:c.-1102C>G, NM_001318807.2:c.-1244C>G, NM_001318807.3:c.-1244C>G, NM_001318807.1:c.-1244C>G, NM_001164692.3:c.672G>C, NM_001164692.2:c.672G>C, NM_001393338.1:c.-1277C>G, NM_001393337.1:c.-1198C>G, NM_001393334.1:c.-2820C>G, NM_001393335.1:c.-1135C>G, NM_001393336.1:c.-1010C>G

Select item 148669221713.

rs1486692217 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT [Show Flanks]
Chromosome:: 14:24311944 (GRCh38)
14:24781151 (GRCh37)
Canonical SPDI:: NC_000014.9:24311944:TATT:TATTTATT
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000014.9:g.24311945_24311948dup, NW_018654722.1:g.612923_612926dup, NC_000014.8:g.24781151_24781154dup, NM_019839.5:c.*204_*207dup, NM_019839.4:c.*204_*207dup, NM_001164692.3:c.*204_*207dup, NM_001164692.2:c.*204_*207dup, NM_001164693.1:c.*37_*40dup

Select item 148667714814.

rs1486677148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24304856 (GRCh38)
14:24774062 (GRCh37)
Canonical SPDI:: NC_000014.9:24304855:G:C
Gene:: CIDEB (Varview), NOP9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_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_000014.9:g.24304856G>C, NW_018654722.1:g.605834G>C, NC_000014.8:g.24774062G>C

Select item 148595323415.

rs1485953234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24311338 (GRCh38)
14:24780544 (GRCh37)
Canonical SPDI:: NC_000014.9:24311337:T:C
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.24311338T>C, NW_018654722.1:g.612316T>C, NC_000014.8:g.24780544T>C, NM_019839.5:c.674T>C, NM_019839.4:c.674T>C, NM_014430.4:c.-1104A>G, NM_014430.3:c.-1104A>G, NM_014430.2:c.-1104A>G, NM_001318807.2:c.-1246A>G, NM_001318807.3:c.-1246A>G, NM_001318807.1:c.-1246A>G, NM_001164692.3:c.674T>C, NM_001164692.2:c.674T>C, NM_001393338.1:c.-1279A>G, NM_001393337.1:c.-1200A>G, NM_001393334.1:c.-2822A>G, NM_001393335.1:c.-1137A>G, NM_001393336.1:c.-1012A>G, NP_062813.2:p.Leu225Pro, NP_001158164.1:p.Leu225Pro

Select item 148585097116.

rs1485850971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:24311747 (GRCh38)
14:24780953 (GRCh37)
Canonical SPDI:: NC_000014.9:24311746:G:A,NC_000014.9:24311746:G:C
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24311747G>A, NC_000014.9:g.24311747G>C, NW_018654722.1:g.612725G>A, NW_018654722.1:g.612725G>C, NC_000014.8:g.24780953G>A, NC_000014.8:g.24780953G>C, NM_019839.5:c.*6G>A, NM_019839.5:c.*6G>C, NM_019839.4:c.*6G>A, NM_019839.4:c.*6G>C, NM_001143919.3:c.-73G>A, NM_001143919.3:c.-73G>C, NM_001143919.2:c.-73G>A, NM_001143919.2:c.-73G>C, NM_001164692.3:c.*6G>A, NM_001164692.3:c.*6G>C, NM_001164692.2:c.*6G>A, NM_001164692.2:c.*6G>C, NM_001164693.1:c.553G>A, NM_001164693.1:c.553G>C

Select item 148542282717.

rs1485422827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24312263 (GRCh38)
14:24781469 (GRCh37)
Canonical SPDI:: NC_000014.9:24312262:G:A
Gene:: LTB4R (Varview), CIDEB (Varview), LTB4R2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.24312263G>A, NW_018654722.1:g.613241G>A, NC_000014.8:g.24781469G>A