SNP Links for Gene (Select 84134) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14904026711.

rs1490402671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161223961 (GRCh38)
1:161193751 (GRCh37)
Canonical SPDI:: NC_000001.11:161223960:A:G
Gene:: APOA2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.161223961A>G, NC_000001.10:g.161193751A>G, NG_012043.1:g.4668T>C

Select item 14885927502.

rs1488592750 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 1:161230273 (GRCh38)
1:161200063 (GRCh37)
Canonical SPDI:: NC_000001.11:161230271:AAA:A,NC_000001.11:161230271:AAA:AA
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.161230273_161230274del, NC_000001.11:g.161230274del, NC_000001.10:g.161200063_161200064del, NC_000001.10:g.161200064del, NG_029113.1:g.12938_12939del, NG_029113.1:g.12939del, NM_032174.6:c.*1178_*1179del, NM_032174.6:c.*1179del, NM_032174.5:c.*1178_*1179del, NM_032174.5:c.*1179del, NM_032174.4:c.*1178_*1179del, NM_032174.4:c.*1179del, XM_006711572.3:c.*1178_*1179del, XM_006711572.3:c.*1179del, XM_006711572.2:c.*1178_*1179del, XM_006711572.2:c.*1179del, XM_006711572.1:c.*1178_*1179del, XM_006711572.1:c.*1179del, XM_011510057.3:c.*1178_*1179del, XM_011510057.3:c.*1179del, XM_011510057.2:c.*1178_*1179del, XM_011510057.2:c.*1179del, XM_011510057.1:c.*1178_*1179del, XM_011510057.1:c.*1179del, NM_001286373.2:c.*1178_*1179del, NM_001286373.2:c.*1179del, NM_001286373.1:c.*1178_*1179del, NM_001286373.1:c.*1179del, NM_001286374.2:c.*1178_*1179del, NM_001286374.2:c.*1179del, NM_001286374.1:c.*1178_*1179del, NM_001286374.1:c.*1179del, XM_047431897.1:c.*1178_*1179del, XM_047431897.1:c.*1179del

Select item 14884824593.

rs1488482459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161225965 (GRCh38)
1:161195755 (GRCh37)
Canonical SPDI:: NC_000001.11:161225964:A:G
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000033/4 (GnomAD)
HGVS:: NC_000001.11:g.161225965A>G, NC_000001.10:g.161195755A>G, NG_012043.1:g.2664T>C, NM_032174.5:c.-307A>G, NM_001286373.1:c.-307A>G, NM_001286374.1:c.-307A>G

Select item 14882482894.

rs1488248289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161228334 (GRCh38)
1:161198124 (GRCh37)
Canonical SPDI:: NC_000001.11:161228333:G:A
Gene:: TOMM40L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161228334G>A, NC_000001.10:g.161198124G>A, NG_029113.1:g.14877C>T, NG_012043.1:g.295C>T

Select item 14876976085.

rs1487697608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:161228053 (GRCh38)
1:161197843 (GRCh37)
Canonical SPDI:: NC_000001.11:161228052:T:G
Gene:: TOMM40L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161228053T>G, NC_000001.10:g.161197843T>G, NG_029113.1:g.15158A>C, NG_012043.1:g.576A>C

Select item 14861092926.

rs1486109292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:161226127 (GRCh38)
1:161195917 (GRCh37)
Canonical SPDI:: NC_000001.11:161226126:G:A,NC_000001.11:161226126:G:C
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161226127G>A, NC_000001.11:g.161226127G>C, NC_000001.10:g.161195917G>A, NC_000001.10:g.161195917G>C, NG_012043.1:g.2502C>T, NG_012043.1:g.2502C>G, NM_032174.6:c.-145G>A, NM_032174.6:c.-145G>C, NM_032174.5:c.-145G>A, NM_032174.5:c.-145G>C, NM_032174.4:c.-145G>A, NM_032174.4:c.-145G>C, XM_006711572.3:c.-24G>A, XM_006711572.3:c.-24G>C, XM_006711572.2:c.-24G>A, XM_006711572.2:c.-24G>C, XM_006711572.1:c.-24G>A, XM_006711572.1:c.-24G>C, XM_011510057.3:c.-24G>A, XM_011510057.3:c.-24G>C, XM_011510057.2:c.-24G>A, XM_011510057.2:c.-24G>C, XM_011510057.1:c.-24G>A, XM_011510057.1:c.-24G>C, NM_001286373.2:c.-145G>A, NM_001286373.2:c.-145G>C, NM_001286373.1:c.-145G>A, NM_001286373.1:c.-145G>C, NM_001286374.2:c.-145G>A, NM_001286374.2:c.-145G>C, NM_001286374.1:c.-145G>A, NM_001286374.1:c.-145G>C, XM_047431897.1:c.-24G>A, XM_047431897.1:c.-24G>C

Select item 14851104297.

rs1485110429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161225962 (GRCh38)
1:161195752 (GRCh37)
Canonical SPDI:: NC_000001.11:161225961:A:G
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.161225962A>G, NC_000001.10:g.161195752A>G, NG_012043.1:g.2667T>C, NM_032174.5:c.-310A>G, NM_001286373.1:c.-310A>G, NM_001286374.1:c.-310A>G

Select item 14849238218.

rs1484923821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161231005 (GRCh38)
1:161200795 (GRCh37)
Canonical SPDI:: NC_000001.11:161231004:A:G
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161231005A>G, NC_000001.10:g.161200795A>G, NG_029113.1:g.12206T>C

Select item 14844716179.

rs1484471617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161225856 (GRCh38)
1:161195646 (GRCh37)
Canonical SPDI:: NC_000001.11:161225855:G:C
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161225856G>C, NC_000001.10:g.161195646G>C, NG_012043.1:g.2773C>G

Select item 148386313010.

rs1483863130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161226616 (GRCh38)
1:161196406 (GRCh37)
Canonical SPDI:: NC_000001.11:161226615:G:A
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161226616G>A, NC_000001.10:g.161196406G>A, NG_012043.1:g.2013C>T

Select item 148381600611.

rs1483816006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161229929 (GRCh38)
1:161199719 (GRCh37)
Canonical SPDI:: NC_000001.11:161229928:T:C
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.161229929T>C, NC_000001.10:g.161199719T>C, NG_029113.1:g.13282A>G, NM_032174.6:c.*834T>C, NM_032174.5:c.*834T>C, NM_032174.4:c.*834T>C, XM_006711572.3:c.*834T>C, XM_006711572.2:c.*834T>C, XM_006711572.1:c.*834T>C, XM_011510057.3:c.*834T>C, XM_011510057.2:c.*834T>C, XM_011510057.1:c.*834T>C, NM_001286373.2:c.*834T>C, NM_001286373.1:c.*834T>C, NM_001286374.2:c.*834T>C, NM_001286374.1:c.*834T>C, XM_047431897.1:c.*834T>C

Select item 148381561512.

rs1483815615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161224880 (GRCh38)
1:161194670 (GRCh37)
Canonical SPDI:: NC_000001.11:161224879:T:C
Gene:: APOA2 (Varview), TOMM40L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161224880T>C, NC_000001.10:g.161194670T>C, NG_012043.1:g.3749A>G

Select item 148357027513.

rs1483570275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161227147 (GRCh38)
1:161196937 (GRCh37)
Canonical SPDI:: NC_000001.11:161227146:A:G
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161227147A>G, NC_000001.10:g.161196937A>G, NG_012043.1:g.1482T>C

Select item 148335673314.

rs1483356733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:161229289 (GRCh38)
1:161199080 (GRCh37)
Canonical SPDI:: NC_000001.11:161229289:T:TT
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161229290dup, NC_000001.10:g.161199080dup, NG_029113.1:g.13921dup, NM_032174.6:c.*195dup, NM_032174.5:c.*195dup, NM_032174.4:c.*195dup, XM_006711572.3:c.*195dup, XM_006711572.2:c.*195dup, XM_006711572.1:c.*195dup, XM_011510057.3:c.*195dup, XM_011510057.2:c.*195dup, XM_011510057.1:c.*195dup, NM_001286373.2:c.*195dup, NM_001286373.1:c.*195dup, NM_001286374.2:c.*195dup, NM_001286374.1:c.*195dup, XM_047431897.1:c.*195dup

Select item 148285216715.

rs1482852167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161227639 (GRCh38)
1:161197429 (GRCh37)
Canonical SPDI:: NC_000001.11:161227638:T:C
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161227639T>C, NC_000001.10:g.161197429T>C, NG_012043.1:g.990A>G, NM_032174.6:c.280T>C, NM_032174.5:c.280T>C, NM_032174.4:c.280T>C, XM_006711572.3:c.280T>C, XM_006711572.2:c.280T>C, XM_006711572.1:c.280T>C, NP_115550.2:p.Phe94Leu, XP_006711635.1:p.Phe94Leu

Select item 148193500616.

rs1481935006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161227731 (GRCh38)
1:161197521 (GRCh37)
Canonical SPDI:: NC_000001.11:161227730:C:T
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161227731C>T, NC_000001.10:g.161197521C>T, NG_029113.1:g.15480G>A, NG_012043.1:g.898G>A, NM_032174.6:c.372C>T, NM_032174.5:c.372C>T, NM_032174.4:c.372C>T, XM_006711572.3:c.372C>T, XM_006711572.2:c.372C>T, XM_006711572.1:c.372C>T

Select item 148135909417.

rs1481359094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:161230782 (GRCh38)
1:161200572 (GRCh37)
Canonical SPDI:: NC_000001.11:161230781:T:C,NC_000001.11:161230781:T:G
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161230782T>C, NC_000001.11:g.161230782T>G, NC_000001.10:g.161200572T>C, NC_000001.10:g.161200572T>G, NG_029113.1:g.12429A>G, NG_029113.1:g.12429A>C

Select item 148104396418.

rs1481043964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161229698 (GRCh38)
1:161199488 (GRCh37)
Canonical SPDI:: NC_000001.11:161229697:G:A
Gene:: NR1I3 (Varview), TOMM40L (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161229698G>A, NC_000001.10:g.161199488G>A, NG_029113.1:g.13513C>T, NM_005122.5:c.*99C>T, NM_005122.4:c.*99C>T, NM_001077482.3:c.*99C>T, NM_001077482.2:c.*99C>T, NM_001077480.3:c.*99C>T, NM_001077480.2:c.*99C>T, NM_001077481.3:c.*99C>T, NM_001077481.2:c.*99C>T, NM_001077471.3:c.*99C>T, NM_001077471.2:c.*99C>T, NM_001077472.3:c.*99C>T, NM_001077472.2:c.*99C>T, NM_001077469.3:c.1007C>T, NM_001077469.2:c.1007C>T, NM_001077479.3:c.*99C>T, NM_001077479.2:c.*99C>T, NM_001077478.3:c.1004C>T, NM_001077478.2:c.1004C>T, NM_001077470.3:c.*99C>T, NM_001077470.2:c.*99C>T, NM_001077473.3:c.932C>T, NM_001077473.2:c.932C>T, NM_001077474.3:c.875C>T, NM_001077474.2:c.875C>T, NM_001077476.3:c.920C>T, NM_001077476.2:c.920C>T, NM_001077477.3:c.905C>T, NM_001077477.2:c.905C>T, NM_001077475.3:c.788C>T, NM_001077475.2:c.788C>T, NM_032174.6:c.*603G>A, NM_032174.5:c.*603G>A, NM_032174.4:c.*603G>A, XM_005245697.5:c.*99C>T, XM_005245697.4:c.*99C>T, XM_005245697.3:c.*99C>T, XM_005245697.1:c.*99C>T, XM_005245693.5:c.*99C>T, XM_005245693.4:c.*99C>T, XM_005245693.3:c.*99C>T, XM_005245693.1:c.*99C>T, XM_006711572.3:c.*603G>A, XM_006711572.2:c.*603G>A, XM_006711572.1:c.*603G>A, XM_011510057.3:c.*603G>A, XM_011510057.2:c.*603G>A, XM_011510057.1:c.*603G>A, NM_001286373.2:c.*603G>A, NM_001286373.1:c.*603G>A, NM_001286374.2:c.*603G>A, NM_001286374.1:c.*603G>A, XM_047431897.1:c.*603G>A, NP_001070937.1:p.Ala336Val, NP_001070946.1:p.Ala335Val, NP_001070941.1:p.Ala311Val, NP_001070942.1:p.Ala292Val, NP_001070944.1:p.Ala307Val, NP_001070945.1:p.Ala302Val, NP_001070943.1:p.Ala263Val

Select item 148094129519.

rs1480941295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161224109 (GRCh38)
1:161193899 (GRCh37)
Canonical SPDI:: NC_000001.11:161224108:G:C
Gene:: APOA2 (Varview), TOMM40L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161224109G>C, NC_000001.10:g.161193899G>C, NG_012043.1:g.4520C>G

Select item 148081482420.

rs1480814824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161224358 (GRCh38)
1:161194148 (GRCh37)
Canonical SPDI:: NC_000001.11:161224357:A:G
Gene:: APOA2 (Varview), TOMM40L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161224358A>G, NC_000001.10:g.161194148A>G, NG_012043.1:g.4271T>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity