SNP Links for Protein (Select 767961694) - SNP

Select item 14850373221.

rs1485037322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88606906 (GRCh38)
10:90366663 (GRCh37)
Canonical SPDI:: NC_000010.11:88606905:A:G
Gene:: LIPJ (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,terminator_codon_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88606906A>G, NC_000010.10:g.90366663A>G, XM_006717635.4:c.1100A>G, XM_006717635.3:c.1100A>G, XM_006717635.2:c.1100A>G, XM_006717635.1:c.1100A>G, NM_001010939.3:c.1100A>G, NM_001010939.2:c.1100A>G, XM_005269542.3:c.761A>G, XM_005269542.2:c.761A>G, XM_005269542.1:c.761A>G, XM_011539315.2:c.1100A>G, XM_011539315.1:c.1100A>G, XM_011539318.2:c.677A>G, XM_011539318.1:c.677A>G, NR_172141.1:n.2486A>G, NM_001394640.1:c.953A>G, XM_011539319.1:c.554A>G

Select item 14770100072.

rs1477010007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88606842 (GRCh38)
10:90366599 (GRCh37)
Canonical SPDI:: NC_000010.11:88606841:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88606842T>C, NC_000010.10:g.90366599T>C, XM_006717635.4:c.1036T>C, XM_006717635.3:c.1036T>C, XM_006717635.2:c.1036T>C, XM_006717635.1:c.1036T>C, NM_001010939.3:c.1036T>C, NM_001010939.2:c.1036T>C, XM_005269542.3:c.697T>C, XM_005269542.2:c.697T>C, XM_005269542.1:c.697T>C, XM_011539315.2:c.1036T>C, XM_011539315.1:c.1036T>C, XM_011539318.2:c.613T>C, XM_011539318.1:c.613T>C, NR_172141.1:n.2422T>C, NM_001394640.1:c.889T>C, XM_011539319.1:c.490T>C, XP_006717698.1:p.Phe346Leu, NP_001010939.2:p.Phe346Leu, XP_005269599.1:p.Phe233Leu, XP_011537617.1:p.Phe346Leu, XP_011537620.1:p.Phe205Leu, NP_001381569.1:p.Phe297Leu, XP_011537621.1:p.Phe164Leu

Select item 14645765783.

rs1464576578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88596846 (GRCh38)
10:90356603 (GRCh37)
Canonical SPDI:: NC_000010.11:88596845:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88596846T>C, NC_000010.10:g.90356603T>C, XM_006717635.4:c.633T>C, XM_006717635.3:c.633T>C, XM_006717635.2:c.633T>C, XM_006717635.1:c.633T>C, NM_001010939.3:c.633T>C, NM_001010939.2:c.633T>C, XM_005269542.3:c.294T>C, XM_005269542.2:c.294T>C, XM_005269542.1:c.294T>C, XM_011539315.2:c.633T>C, XM_011539315.1:c.633T>C, XM_011539318.2:c.210T>C, XM_011539318.1:c.210T>C, NR_172141.1:n.2019T>C, XM_047424642.1:c.633T>C, XM_047424643.1:c.633T>C, XM_011539319.1:c.87T>C

Select item 14614656434.

rs1461465643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88596817 (GRCh38)
10:90356574 (GRCh37)
Canonical SPDI:: NC_000010.11:88596816:C:T
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.88596817C>T, NC_000010.10:g.90356574C>T, XM_006717635.4:c.604C>T, XM_006717635.3:c.604C>T, XM_006717635.2:c.604C>T, XM_006717635.1:c.604C>T, NM_001010939.3:c.604C>T, NM_001010939.2:c.604C>T, XM_005269542.3:c.265C>T, XM_005269542.2:c.265C>T, XM_005269542.1:c.265C>T, XM_011539315.2:c.604C>T, XM_011539315.1:c.604C>T, XM_011539318.2:c.181C>T, XM_011539318.1:c.181C>T, NR_172141.1:n.1990C>T, XM_047424642.1:c.604C>T, XM_047424643.1:c.604C>T, XM_011539319.1:c.58C>T, XP_006717698.1:p.Pro202Ser, NP_001010939.2:p.Pro202Ser, XP_005269599.1:p.Pro89Ser, XP_011537617.1:p.Pro202Ser, XP_011537620.1:p.Pro61Ser, XP_047280598.1:p.Pro202Ser, XP_047280599.1:p.Pro202Ser, XP_011537621.1:p.Pro20Ser

Select item 14564745425.

rs1456474542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:88602586 (GRCh38)
10:90362343 (GRCh37)
Canonical SPDI:: NC_000010.11:88602585:A:G,NC_000010.11:88602585:A:T
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
T=0.00221/37 (TOMMO)
HGVS:: NC_000010.11:g.88602586A>G, NC_000010.11:g.88602586A>T, NC_000010.10:g.90362343A>G, NC_000010.10:g.90362343A>T, XM_006717635.4:c.734A>G, XM_006717635.4:c.734A>T, XM_006717635.3:c.734A>G, XM_006717635.3:c.734A>T, XM_006717635.2:c.734A>G, XM_006717635.2:c.734A>T, XM_006717635.1:c.734A>G, XM_006717635.1:c.734A>T, NM_001010939.3:c.734A>G, NM_001010939.3:c.734A>T, NM_001010939.2:c.734A>G, NM_001010939.2:c.734A>T, XM_005269542.3:c.395A>G, XM_005269542.3:c.395A>T, XM_005269542.2:c.395A>G, XM_005269542.2:c.395A>T, XM_005269542.1:c.395A>G, XM_005269542.1:c.395A>T, XM_011539315.2:c.734A>G, XM_011539315.2:c.734A>T, XM_011539315.1:c.734A>G, XM_011539315.1:c.734A>T, XM_011539318.2:c.311A>G, XM_011539318.2:c.311A>T, XM_011539318.1:c.311A>G, XM_011539318.1:c.311A>T, NR_172141.1:n.2120A>G, NR_172141.1:n.2120A>T, XM_047424642.1:c.734A>G, XM_047424642.1:c.734A>T, NM_001394640.1:c.587A>G, NM_001394640.1:c.587A>T, XM_047424643.1:c.734A>G, XM_047424643.1:c.734A>T, XM_011539319.1:c.188A>G, XM_011539319.1:c.188A>T, XP_006717698.1:p.Asp245Gly, XP_006717698.1:p.Asp245Val, NP_001010939.2:p.Asp245Gly, NP_001010939.2:p.Asp245Val, XP_005269599.1:p.Asp132Gly, XP_005269599.1:p.Asp132Val, XP_011537617.1:p.Asp245Gly, XP_011537617.1:p.Asp245Val, XP_011537620.1:p.Asp104Gly, XP_011537620.1:p.Asp104Val, XP_047280598.1:p.Asp245Gly, XP_047280598.1:p.Asp245Val, NP_001381569.1:p.Asp196Gly, NP_001381569.1:p.Asp196Val, XP_047280599.1:p.Asp245Gly, XP_047280599.1:p.Asp245Val, XP_011537621.1:p.Asp63Gly, XP_011537621.1:p.Asp63Val

Select item 14543093926.

rs1454309392 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:88605654 (GRCh38)
10:90365411 (GRCh37)
Canonical SPDI:: NC_000010.11:88605653:AAA:AA
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00011/2 (TOMMO)
HGVS:: NC_000010.11:g.88605656del, NC_000010.10:g.90365413del, XM_006717635.4:c.819del, XM_006717635.3:c.819del, XM_006717635.2:c.819del, XM_006717635.1:c.819del, NM_001010939.3:c.819del, NM_001010939.2:c.819del, XM_005269542.3:c.480del, XM_005269542.2:c.480del, XM_005269542.1:c.480del, XM_011539315.2:c.819del, XM_011539315.1:c.819del, XM_011539318.2:c.396del, XM_011539318.1:c.396del, NR_172141.1:n.2205del, XM_047424642.1:c.819del, NM_001394640.1:c.672del, XM_047424643.1:c.819del, XM_011539319.1:c.273del, XP_006717698.1:p.Ala274fs, NP_001010939.2:p.Ala274fs, XP_005269599.1:p.Ala161fs, XP_011537617.1:p.Ala274fs, XP_011537620.1:p.Ala133fs, XP_047280598.1:p.Ala274fs, NP_001381569.1:p.Ala225fs, XP_047280599.1:p.Ala274fs, XP_011537621.1:p.Ala92fs

Select item 14502772657.

rs1450277265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88606770 (GRCh38)
10:90366527 (GRCh37)
Canonical SPDI:: NC_000010.11:88606769:A:G
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.88606770A>G, NC_000010.10:g.90366527A>G, XM_006717635.4:c.964A>G, XM_006717635.3:c.964A>G, XM_006717635.2:c.964A>G, XM_006717635.1:c.964A>G, NM_001010939.3:c.964A>G, NM_001010939.2:c.964A>G, XM_005269542.3:c.625A>G, XM_005269542.2:c.625A>G, XM_005269542.1:c.625A>G, XM_011539315.2:c.964A>G, XM_011539315.1:c.964A>G, XM_011539318.2:c.541A>G, XM_011539318.1:c.541A>G, NR_172141.1:n.2350A>G, NM_001394640.1:c.817A>G, XM_011539319.1:c.418A>G, XP_006717698.1:p.Ile322Val, NP_001010939.2:p.Ile322Val, XP_005269599.1:p.Ile209Val, XP_011537617.1:p.Ile322Val, XP_011537620.1:p.Ile181Val, NP_001381569.1:p.Ile273Val, XP_011537621.1:p.Ile140Val

Select item 14466666218.

rs1446666621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:88606721 (GRCh38)
10:90366478 (GRCh37)
Canonical SPDI:: NC_000010.11:88606720:A:C
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_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_000010.11:g.88606721A>C, NC_000010.10:g.90366478A>C, XM_006717635.4:c.915A>C, XM_006717635.3:c.915A>C, XM_006717635.2:c.915A>C, XM_006717635.1:c.915A>C, NM_001010939.3:c.915A>C, NM_001010939.2:c.915A>C, XM_005269542.3:c.576A>C, XM_005269542.2:c.576A>C, XM_005269542.1:c.576A>C, XM_011539315.2:c.915A>C, XM_011539315.1:c.915A>C, XM_011539318.2:c.492A>C, XM_011539318.1:c.492A>C, NR_172141.1:n.2301A>C, XM_047424642.1:c.915A>C, NM_001394640.1:c.768A>C, XM_011539319.1:c.369A>C

Select item 14456314389.

rs1445631438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:88602609 (GRCh38)
10:90362366 (GRCh37)
Canonical SPDI:: NC_000010.11:88602608:G:C
Gene:: LIPJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000106/3 (TOMMO)
HGVS:: NC_000010.11:g.88602609G>C, NC_000010.10:g.90362366G>C, XM_006717635.4:c.757G>C, XM_006717635.3:c.757G>C, XM_006717635.2:c.757G>C, XM_006717635.1:c.757G>C, NM_001010939.3:c.757G>C, NM_001010939.2:c.757G>C, XM_005269542.3:c.418G>C, XM_005269542.2:c.418G>C, XM_005269542.1:c.418G>C, XM_011539315.2:c.757G>C, XM_011539315.1:c.757G>C, XM_011539318.2:c.334G>C, XM_011539318.1:c.334G>C, NR_172141.1:n.2143G>C, XM_047424642.1:c.757G>C, NM_001394640.1:c.610G>C, XM_047424643.1:c.757G>C, XM_011539319.1:c.211G>C, XP_006717698.1:p.Ala253Pro, NP_001010939.2:p.Ala253Pro, XP_005269599.1:p.Ala140Pro, XP_011537617.1:p.Ala253Pro, XP_011537620.1:p.Ala112Pro, XP_047280598.1:p.Ala253Pro, NP_001381569.1:p.Ala204Pro, XP_047280599.1:p.Ala253Pro, XP_011537621.1:p.Ala71Pro

Select item 144123064210.

rs1441230642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:88606677 (GRCh38)
10:90366434 (GRCh37)
Canonical SPDI:: NC_000010.11:88606676:A:T
Gene:: LIPJ (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88606677A>T, NC_000010.10:g.90366434A>T, XM_006717635.4:c.871A>T, XM_006717635.3:c.871A>T, XM_006717635.2:c.871A>T, XM_006717635.1:c.871A>T, NM_001010939.3:c.871A>T, NM_001010939.2:c.871A>T, XM_005269542.3:c.532A>T, XM_005269542.2:c.532A>T, XM_005269542.1:c.532A>T, XM_011539315.2:c.871A>T, XM_011539315.1:c.871A>T, XM_011539318.2:c.448A>T, XM_011539318.1:c.448A>T, NR_172141.1:n.2257A>T, XM_047424642.1:c.871A>T, NM_001394640.1:c.724A>T, XM_011539319.1:c.325A>T, XP_006717698.1:p.Thr291Ser, NP_001010939.2:p.Thr291Ser, XP_005269599.1:p.Thr178Ser, XP_011537617.1:p.Thr291Ser, XP_011537620.1:p.Thr150Ser, XP_047280598.1:p.Thr291Ser, NP_001381569.1:p.Thr242Ser, XP_011537621.1:p.Thr109Ser

Select item 143613706211.

rs1436137062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88606689 (GRCh38)
10:90366446 (GRCh37)
Canonical SPDI:: NC_000010.11:88606688:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88606689T>C, NC_000010.10:g.90366446T>C, XM_006717635.4:c.883T>C, XM_006717635.3:c.883T>C, XM_006717635.2:c.883T>C, XM_006717635.1:c.883T>C, NM_001010939.3:c.883T>C, NM_001010939.2:c.883T>C, XM_005269542.3:c.544T>C, XM_005269542.2:c.544T>C, XM_005269542.1:c.544T>C, XM_011539315.2:c.883T>C, XM_011539315.1:c.883T>C, XM_011539318.2:c.460T>C, XM_011539318.1:c.460T>C, NR_172141.1:n.2269T>C, XM_047424642.1:c.883T>C, NM_001394640.1:c.736T>C, XM_011539319.1:c.337T>C, XP_006717698.1:p.Tyr295His, NP_001010939.2:p.Tyr295His, XP_005269599.1:p.Tyr182His, XP_011537617.1:p.Tyr295His, XP_011537620.1:p.Tyr154His, XP_047280598.1:p.Tyr295His, NP_001381569.1:p.Tyr246His, XP_011537621.1:p.Tyr113His

Select item 143160979212.

rs1431609792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:88606873 (GRCh38)
10:90366630 (GRCh37)
Canonical SPDI:: NC_000010.11:88606872:A:C
Gene:: LIPJ (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88606873A>C, NC_000010.10:g.90366630A>C, XM_006717635.4:c.1067A>C, XM_006717635.3:c.1067A>C, XM_006717635.2:c.1067A>C, XM_006717635.1:c.1067A>C, NM_001010939.3:c.1067A>C, NM_001010939.2:c.1067A>C, XM_005269542.3:c.728A>C, XM_005269542.2:c.728A>C, XM_005269542.1:c.728A>C, XM_011539315.2:c.1067A>C, XM_011539315.1:c.1067A>C, XM_011539318.2:c.644A>C, XM_011539318.1:c.644A>C, NR_172141.1:n.2453A>C, NM_001394640.1:c.920A>C, XM_011539319.1:c.521A>C, XP_006717698.1:p.His356Pro, NP_001010939.2:p.His356Pro, XP_005269599.1:p.His243Pro, XP_011537617.1:p.His356Pro, XP_011537620.1:p.His215Pro, NP_001381569.1:p.His307Pro, XP_011537621.1:p.His174Pro

Select item 141850523413.

rs1418505234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:88605700 (GRCh38)
10:90365457 (GRCh37)
Canonical SPDI:: NC_000010.11:88605699:A:G,NC_000010.11:88605699:A:T
Gene:: LIPJ (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88605700A>G, NC_000010.11:g.88605700A>T, NC_000010.10:g.90365457A>G, NC_000010.10:g.90365457A>T, XM_006717635.4:c.863A>G, XM_006717635.4:c.863A>T, XM_006717635.3:c.863A>G, XM_006717635.3:c.863A>T, XM_006717635.2:c.863A>G, XM_006717635.2:c.863A>T, XM_006717635.1:c.863A>G, XM_006717635.1:c.863A>T, NM_001010939.3:c.863A>G, NM_001010939.3:c.863A>T, NM_001010939.2:c.863A>G, NM_001010939.2:c.863A>T, XM_005269542.3:c.524A>G, XM_005269542.3:c.524A>T, XM_005269542.2:c.524A>G, XM_005269542.2:c.524A>T, XM_005269542.1:c.524A>G, XM_005269542.1:c.524A>T, XM_011539315.2:c.863A>G, XM_011539315.2:c.863A>T, XM_011539315.1:c.863A>G, XM_011539315.1:c.863A>T, XM_011539318.2:c.440A>G, XM_011539318.2:c.440A>T, XM_011539318.1:c.440A>G, XM_011539318.1:c.440A>T, NR_172141.1:n.2249A>G, NR_172141.1:n.2249A>T, XM_047424642.1:c.863A>G, XM_047424642.1:c.863A>T, NM_001394640.1:c.716A>G, NM_001394640.1:c.716A>T, XM_047424643.1:c.863A>G, XM_047424643.1:c.863A>T, XM_011539319.1:c.317A>G, XM_011539319.1:c.317A>T, XP_006717698.1:p.Asn288Ser, XP_006717698.1:p.Asn288Ile, NP_001010939.2:p.Asn288Ser, NP_001010939.2:p.Asn288Ile, XP_005269599.1:p.Asn175Ser, XP_005269599.1:p.Asn175Ile, XP_011537617.1:p.Asn288Ser, XP_011537617.1:p.Asn288Ile, XP_011537620.1:p.Asn147Ser, XP_011537620.1:p.Asn147Ile, XP_047280598.1:p.Asn288Ser, XP_047280598.1:p.Asn288Ile, NP_001381569.1:p.Asn239Ser, NP_001381569.1:p.Asn239Ile, XP_047280599.1:p.Asn288Ser, XP_047280599.1:p.Asn288Ile, XP_011537621.1:p.Asn106Ser, XP_011537621.1:p.Asn106Ile

Select item 140536408814.

rs1405364088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:88606762 (GRCh38)
10:90366519 (GRCh37)
Canonical SPDI:: NC_000010.11:88606761:A:T
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88606762A>T, NC_000010.10:g.90366519A>T, XM_006717635.4:c.956A>T, XM_006717635.3:c.956A>T, XM_006717635.2:c.956A>T, XM_006717635.1:c.956A>T, NM_001010939.3:c.956A>T, NM_001010939.2:c.956A>T, XM_005269542.3:c.617A>T, XM_005269542.2:c.617A>T, XM_005269542.1:c.617A>T, XM_011539315.2:c.956A>T, XM_011539315.1:c.956A>T, XM_011539318.2:c.533A>T, XM_011539318.1:c.533A>T, NR_172141.1:n.2342A>T, NM_001394640.1:c.809A>T, XM_011539319.1:c.410A>T, XP_006717698.1:p.Asp319Val, NP_001010939.2:p.Asp319Val, XP_005269599.1:p.Asp206Val, XP_011537617.1:p.Asp319Val, XP_011537620.1:p.Asp178Val, NP_001381569.1:p.Asp270Val, XP_011537621.1:p.Asp137Val

Select item 140072170315.

rs1400721703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:88606859 (GRCh38)
10:90366616 (GRCh37)
Canonical SPDI:: NC_000010.11:88606858:T:A,NC_000010.11:88606858:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88606859T>A, NC_000010.11:g.88606859T>C, NC_000010.10:g.90366616T>A, NC_000010.10:g.90366616T>C, XM_006717635.4:c.1053T>A, XM_006717635.4:c.1053T>C, XM_006717635.3:c.1053T>A, XM_006717635.3:c.1053T>C, XM_006717635.2:c.1053T>A, XM_006717635.2:c.1053T>C, XM_006717635.1:c.1053T>A, XM_006717635.1:c.1053T>C, NM_001010939.3:c.1053T>A, NM_001010939.3:c.1053T>C, NM_001010939.2:c.1053T>A, NM_001010939.2:c.1053T>C, XM_005269542.3:c.714T>A, XM_005269542.3:c.714T>C, XM_005269542.2:c.714T>A, XM_005269542.2:c.714T>C, XM_005269542.1:c.714T>A, XM_005269542.1:c.714T>C, XM_011539315.2:c.1053T>A, XM_011539315.2:c.1053T>C, XM_011539315.1:c.1053T>A, XM_011539315.1:c.1053T>C, XM_011539318.2:c.630T>A, XM_011539318.2:c.630T>C, XM_011539318.1:c.630T>A, XM_011539318.1:c.630T>C, NR_172141.1:n.2439T>A, NR_172141.1:n.2439T>C, NM_001394640.1:c.906T>A, NM_001394640.1:c.906T>C, XM_011539319.1:c.507T>A, XM_011539319.1:c.507T>C, XP_006717698.1:p.Tyr351Ter, NP_001010939.2:p.Tyr351Ter, XP_005269599.1:p.Tyr238Ter, XP_011537617.1:p.Tyr351Ter, XP_011537620.1:p.Tyr210Ter, NP_001381569.1:p.Tyr302Ter, XP_011537621.1:p.Tyr169Ter

Select item 138992568116.

rs1389925681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88602589 (GRCh38)
10:90362346 (GRCh37)
Canonical SPDI:: NC_000010.11:88602588:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88602589T>C, NC_000010.10:g.90362346T>C, XM_006717635.4:c.737T>C, XM_006717635.3:c.737T>C, XM_006717635.2:c.737T>C, XM_006717635.1:c.737T>C, NM_001010939.3:c.737T>C, NM_001010939.2:c.737T>C, XM_005269542.3:c.398T>C, XM_005269542.2:c.398T>C, XM_005269542.1:c.398T>C, XM_011539315.2:c.737T>C, XM_011539315.1:c.737T>C, XM_011539318.2:c.314T>C, XM_011539318.1:c.314T>C, NR_172141.1:n.2123T>C, XM_047424642.1:c.737T>C, NM_001394640.1:c.590T>C, XM_047424643.1:c.737T>C, XM_011539319.1:c.191T>C, XP_006717698.1:p.Val246Ala, NP_001010939.2:p.Val246Ala, XP_005269599.1:p.Val133Ala, XP_011537617.1:p.Val246Ala, XP_011537620.1:p.Val105Ala, XP_047280598.1:p.Val246Ala, NP_001381569.1:p.Val197Ala, XP_047280599.1:p.Val246Ala, XP_011537621.1:p.Val64Ala

Select item 137939155317.

rs1379391553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:88606694 (GRCh38)
10:90366451 (GRCh37)
Canonical SPDI:: NC_000010.11:88606693:C:G
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88606694C>G, NC_000010.10:g.90366451C>G, XM_006717635.4:c.888C>G, XM_006717635.3:c.888C>G, XM_006717635.2:c.888C>G, XM_006717635.1:c.888C>G, NM_001010939.3:c.888C>G, NM_001010939.2:c.888C>G, XM_005269542.3:c.549C>G, XM_005269542.2:c.549C>G, XM_005269542.1:c.549C>G, XM_011539315.2:c.888C>G, XM_011539315.1:c.888C>G, XM_011539318.2:c.465C>G, XM_011539318.1:c.465C>G, NR_172141.1:n.2274C>G, XM_047424642.1:c.888C>G, NM_001394640.1:c.741C>G, XM_011539319.1:c.342C>G, XP_006717698.1:p.Asn296Lys, NP_001010939.2:p.Asn296Lys, XP_005269599.1:p.Asn183Lys, XP_011537617.1:p.Asn296Lys, XP_011537620.1:p.Asn155Lys, XP_047280598.1:p.Asn296Lys, NP_001381569.1:p.Asn247Lys, XP_011537621.1:p.Asn114Lys

Select item 137742409318.

rs1377424093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88605661 (GRCh38)
10:90365418 (GRCh37)
Canonical SPDI:: NC_000010.11:88605660:A:G
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88605661A>G, NC_000010.10:g.90365418A>G, XM_006717635.4:c.824A>G, XM_006717635.3:c.824A>G, XM_006717635.2:c.824A>G, XM_006717635.1:c.824A>G, NM_001010939.3:c.824A>G, NM_001010939.2:c.824A>G, XM_005269542.3:c.485A>G, XM_005269542.2:c.485A>G, XM_005269542.1:c.485A>G, XM_011539315.2:c.824A>G, XM_011539315.1:c.824A>G, XM_011539318.2:c.401A>G, XM_011539318.1:c.401A>G, NR_172141.1:n.2210A>G, XM_047424642.1:c.824A>G, NM_001394640.1:c.677A>G, XM_047424643.1:c.824A>G, XM_011539319.1:c.278A>G, XP_006717698.1:p.Tyr275Cys, NP_001010939.2:p.Tyr275Cys, XP_005269599.1:p.Tyr162Cys, XP_011537617.1:p.Tyr275Cys, XP_011537620.1:p.Tyr134Cys, XP_047280598.1:p.Tyr275Cys, NP_001381569.1:p.Tyr226Cys, XP_047280599.1:p.Tyr275Cys, XP_011537621.1:p.Tyr93Cys

Select item 137350979519.

rs1373509795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88605668 (GRCh38)
10:90365425 (GRCh37)
Canonical SPDI:: NC_000010.11:88605667:G:A
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88605668G>A, NC_000010.10:g.90365425G>A, XM_006717635.4:c.831G>A, XM_006717635.3:c.831G>A, XM_006717635.2:c.831G>A, XM_006717635.1:c.831G>A, NM_001010939.3:c.831G>A, NM_001010939.2:c.831G>A, XM_005269542.3:c.492G>A, XM_005269542.2:c.492G>A, XM_005269542.1:c.492G>A, XM_011539315.2:c.831G>A, XM_011539315.1:c.831G>A, XM_011539318.2:c.408G>A, XM_011539318.1:c.408G>A, NR_172141.1:n.2217G>A, XM_047424642.1:c.831G>A, NM_001394640.1:c.684G>A, XM_047424643.1:c.831G>A, XM_011539319.1:c.285G>A, XP_006717698.1:p.Trp277Ter, NP_001010939.2:p.Trp277Ter, XP_005269599.1:p.Trp164Ter, XP_011537617.1:p.Trp277Ter, XP_011537620.1:p.Trp136Ter, XP_047280598.1:p.Trp277Ter, NP_001381569.1:p.Trp228Ter, XP_047280599.1:p.Trp277Ter, XP_011537621.1:p.Trp95Ter

Select item 137225152620.

rs1372251526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88606725 (GRCh38)
10:90366482 (GRCh37)
Canonical SPDI:: NC_000010.11:88606724:T:C
Gene:: LIPJ (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88606725T>C, NC_000010.10:g.90366482T>C, XM_006717635.4:c.919T>C, XM_006717635.3:c.919T>C, XM_006717635.2:c.919T>C, XM_006717635.1:c.919T>C, NM_001010939.3:c.919T>C, NM_001010939.2:c.919T>C, XM_005269542.3:c.580T>C, XM_005269542.2:c.580T>C, XM_005269542.1:c.580T>C, XM_011539315.2:c.919T>C, XM_011539315.1:c.919T>C, XM_011539318.2:c.496T>C, XM_011539318.1:c.496T>C, NR_172141.1:n.2305T>C, XM_047424642.1:c.919T>C, NM_001394640.1:c.772T>C, XM_011539319.1:c.373T>C, XP_006717698.1:p.Trp307Arg, NP_001010939.2:p.Trp307Arg, XP_005269599.1:p.Trp194Arg, XP_011537617.1:p.Trp307Arg, XP_011537620.1:p.Trp166Arg, XP_047280598.1:p.Trp307Arg, NP_001381569.1:p.Trp258Arg, XP_011537621.1:p.Trp125Arg

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 174

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 174

Page of 9

Page of 9

Display Settings:

Supplemental Content

Find related data

Recent activity