SNP Links for Protein (Select 731184209) - SNP

Select item 14903849121.

rs1490384912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:14152645 (GRCh38)
21:15524966 (GRCh37)
Canonical SPDI:: NC_000021.9:14152644:G:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14152645G>T, NC_000021.8:g.15524966G>T, NG_021434.2:g.59289C>A, NM_198996.4:c.911C>A, NM_198996.3:c.1109C>A, NM_198996.2:c.1109C>A, NM_001302998.2:c.1046C>A, NM_001302998.1:c.1046C>A, NM_001303000.2:c.1028C>A, NM_001303000.1:c.1028C>A, NM_001302999.2:c.956C>A, NM_001302999.1:c.956C>A, NM_001379565.1:c.941C>A, NM_001379566.1:c.551C>A, XM_006723965.4:c.1133C>A, XM_006723965.3:c.1133C>A, XM_006723965.2:c.1133C>A, XM_006723965.1:c.1133C>A, NM_145317.1:c.*314C>A, NP_945347.3:p.Thr304Asn, NP_001289927.1:p.Thr349Asn, NP_001289929.1:p.Thr343Asn, NP_001289928.1:p.Thr319Asn, NP_001366494.1:p.Thr314Asn, NP_001366495.1:p.Thr184Asn, XP_006724028.1:p.Thr378Asn

Select item 14887292372.

rs1488729237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:14152582 (GRCh38)
21:15524903 (GRCh37)
Canonical SPDI:: NC_000021.9:14152581:C:A,NC_000021.9:14152581:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.14152582C>A, NC_000021.9:g.14152582C>T, NC_000021.8:g.15524903C>A, NC_000021.8:g.15524903C>T, NG_021434.2:g.59352G>T, NG_021434.2:g.59352G>A, NM_198996.4:c.974G>T, NM_198996.4:c.974G>A, NM_198996.3:c.1172G>T, NM_198996.3:c.1172G>A, NM_198996.2:c.1172G>T, NM_198996.2:c.1172G>A, NM_001302998.2:c.1109G>T, NM_001302998.2:c.1109G>A, NM_001302998.1:c.1109G>T, NM_001302998.1:c.1109G>A, NM_001303000.2:c.1091G>T, NM_001303000.2:c.1091G>A, NM_001303000.1:c.1091G>T, NM_001303000.1:c.1091G>A, NM_001302999.2:c.1019G>T, NM_001302999.2:c.1019G>A, NM_001302999.1:c.1019G>T, NM_001302999.1:c.1019G>A, NM_001379565.1:c.1004G>T, NM_001379565.1:c.1004G>A, NM_001379566.1:c.614G>T, NM_001379566.1:c.614G>A, XM_006723965.4:c.1196G>T, XM_006723965.4:c.1196G>A, XM_006723965.3:c.1196G>T, XM_006723965.3:c.1196G>A, XM_006723965.2:c.1196G>T, XM_006723965.2:c.1196G>A, XM_006723965.1:c.1196G>T, XM_006723965.1:c.1196G>A, NM_145317.1:c.*377G>T, NM_145317.1:c.*377G>A, NP_945347.3:p.Arg325Met, NP_945347.3:p.Arg325Lys, NP_001289927.1:p.Arg370Met, NP_001289927.1:p.Arg370Lys, NP_001289929.1:p.Arg364Met, NP_001289929.1:p.Arg364Lys, NP_001289928.1:p.Arg340Met, NP_001289928.1:p.Arg340Lys, NP_001366494.1:p.Arg335Met, NP_001366494.1:p.Arg335Lys, NP_001366495.1:p.Arg205Met, NP_001366495.1:p.Arg205Lys, XP_006724028.1:p.Arg399Met, XP_006724028.1:p.Arg399Lys

Select item 14874192403.

rs1487419240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14189348 (GRCh38)
21:15561669 (GRCh37)
Canonical SPDI:: NC_000021.9:14189347:T:C
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14189348T>C, NC_000021.8:g.15561669T>C, NG_021434.2:g.22586A>G, NM_198996.4:c.-18A>G, NM_198996.3:c.181A>G, NM_198996.2:c.181A>G, NM_001302998.2:c.118A>G, NM_001302998.1:c.118A>G, NM_001303000.2:c.118A>G, NM_001303000.1:c.118A>G, NM_001302999.2:c.118A>G, NM_001302999.1:c.118A>G, NM_001303001.2:c.118A>G, NM_001303001.1:c.118A>G, NM_001379565.1:c.118A>G, XM_006723965.4:c.205A>G, XM_006723965.3:c.205A>G, XM_006723965.2:c.205A>G, XM_006723965.1:c.205A>G, NM_145317.1:c.-18A>G, NP_001289927.1:p.Arg40Gly, NP_001289929.1:p.Arg40Gly, NP_001289928.1:p.Arg40Gly, NP_001289930.1:p.Arg40Gly, NP_001366494.1:p.Arg40Gly, XP_006724028.1:p.Arg69Gly

Select item 14863199134.

rs1486319913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14163476 (GRCh38)
21:15535797 (GRCh37)
Canonical SPDI:: NC_000021.9:14163475:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.14163476C>T, NC_000021.8:g.15535797C>T, NG_021434.2:g.48458G>A, NM_198996.4:c.814G>A, NM_198996.3:c.1012G>A, NM_198996.2:c.1012G>A, NM_001302998.2:c.949G>A, NM_001302998.1:c.949G>A, NM_001303000.2:c.949G>A, NM_001303000.1:c.949G>A, NM_001302999.2:c.859G>A, NM_001302999.1:c.859G>A, NM_001303001.2:c.949G>A, NM_001303001.1:c.949G>A, NM_001379565.1:c.844G>A, NM_001379566.1:c.454G>A, XM_006723965.4:c.1036G>A, XM_006723965.3:c.1036G>A, XM_006723965.2:c.1036G>A, XM_006723965.1:c.1036G>A, NM_145317.1:c.*217G>A, NP_945347.3:p.Gly272Arg, NP_001289927.1:p.Gly317Arg, NP_001289929.1:p.Gly317Arg, NP_001289928.1:p.Gly287Arg, NP_001289930.1:p.Gly317Arg, NP_001366494.1:p.Gly282Arg, NP_001366495.1:p.Gly152Arg, XP_006724028.1:p.Gly346Arg

Select item 14843107935.

rs1484310793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14189256 (GRCh38)
21:15561577 (GRCh37)
Canonical SPDI:: NC_000021.9:14189255:G:A
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14189256G>A, NC_000021.8:g.15561577G>A, NG_021434.2:g.22678C>T, NM_198996.4:c.75C>T, NM_198996.3:c.273C>T, NM_198996.2:c.273C>T, NM_001302998.2:c.210C>T, NM_001302998.1:c.210C>T, NM_001303000.2:c.210C>T, NM_001303000.1:c.210C>T, NM_001302999.2:c.210C>T, NM_001302999.1:c.210C>T, NM_001303001.2:c.210C>T, NM_001303001.1:c.210C>T, NM_001379565.1:c.210C>T, XM_006723965.4:c.297C>T, XM_006723965.3:c.297C>T, XM_006723965.2:c.297C>T, XM_006723965.1:c.297C>T, NM_145317.1:c.75C>T

Select item 14827025106.

rs1482702510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14163497 (GRCh38)
21:15535818 (GRCh37)
Canonical SPDI:: NC_000021.9:14163496:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.14163497C>T, NC_000021.8:g.15535818C>T, NG_021434.2:g.48437G>A, NM_198996.4:c.793G>A, NM_198996.3:c.991G>A, NM_198996.2:c.991G>A, NM_001302998.2:c.928G>A, NM_001302998.1:c.928G>A, NM_001303000.2:c.928G>A, NM_001303000.1:c.928G>A, NM_001302999.2:c.838G>A, NM_001302999.1:c.838G>A, NM_001303001.2:c.928G>A, NM_001303001.1:c.928G>A, NM_001379565.1:c.823G>A, NM_001379566.1:c.433G>A, XM_006723965.4:c.1015G>A, XM_006723965.3:c.1015G>A, XM_006723965.2:c.1015G>A, XM_006723965.1:c.1015G>A, NM_145317.1:c.*196G>A, NP_945347.3:p.Val265Ile, NP_001289927.1:p.Val310Ile, NP_001289929.1:p.Val310Ile, NP_001289928.1:p.Val280Ile, NP_001289930.1:p.Val310Ile, NP_001366494.1:p.Val275Ile, NP_001366495.1:p.Val145Ile, XP_006724028.1:p.Val339Ile

Select item 14793205077.

rs1479320507 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 21:14189282 (GRCh38)
21:15561603 (GRCh37)
Canonical SPDI:: NC_000021.9:14189281:G:
Gene:: LIPI (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14189282del, NC_000021.8:g.15561603del, NG_021434.2:g.22652del, NM_198996.4:c.49del, NM_198996.3:c.247del, NM_198996.2:c.247del, NM_001302998.2:c.184del, NM_001302998.1:c.184del, NM_001303000.2:c.184del, NM_001303000.1:c.184del, NM_001302999.2:c.184del, NM_001302999.1:c.184del, NM_001303001.2:c.184del, NM_001303001.1:c.184del, NM_001379565.1:c.184del, XM_006723965.4:c.271del, XM_006723965.3:c.271del, XM_006723965.2:c.271del, XM_006723965.1:c.271del, NM_145317.1:c.49del, NP_945347.3:p.Gln17fs, NP_001289927.1:p.Gln62fs, NP_001289929.1:p.Gln62fs, NP_001289928.1:p.Gln62fs, NP_001289930.1:p.Gln62fs, NP_001366494.1:p.Gln62fs, XP_006724028.1:p.Gln91fs

Select item 14790472418.

rs1479047241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:14186026 (GRCh38)
21:15558347 (GRCh37)
Canonical SPDI:: NC_000021.9:14186025:C:G,NC_000021.9:14186025:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.14186026C>G, NC_000021.9:g.14186026C>T, NC_000021.8:g.15558347C>G, NC_000021.8:g.15558347C>T, NG_021434.2:g.25908G>C, NG_021434.2:g.25908G>A, NM_198996.4:c.341G>C, NM_198996.4:c.341G>A, NM_198996.3:c.539G>C, NM_198996.3:c.539G>A, NM_198996.2:c.539G>C, NM_198996.2:c.539G>A, NM_001302998.2:c.476G>C, NM_001302998.2:c.476G>A, NM_001302998.1:c.476G>C, NM_001302998.1:c.476G>A, NM_001303000.2:c.476G>C, NM_001303000.2:c.476G>A, NM_001303000.1:c.476G>C, NM_001303000.1:c.476G>A, NM_001302999.2:c.476G>C, NM_001302999.2:c.476G>A, NM_001302999.1:c.476G>C, NM_001302999.1:c.476G>A, NM_001303001.2:c.476G>C, NM_001303001.2:c.476G>A, NM_001303001.1:c.476G>C, NM_001303001.1:c.476G>A, NM_001379565.1:c.476G>C, NM_001379565.1:c.476G>A, XM_006723965.4:c.563G>C, XM_006723965.4:c.563G>A, XM_006723965.3:c.563G>C, XM_006723965.3:c.563G>A, XM_006723965.2:c.563G>C, XM_006723965.2:c.563G>A, XM_006723965.1:c.563G>C, XM_006723965.1:c.563G>A, NM_145317.1:c.341G>C, NM_145317.1:c.341G>A, NP_945347.3:p.Ser114Thr, NP_945347.3:p.Ser114Asn, NP_001289927.1:p.Ser159Thr, NP_001289927.1:p.Ser159Asn, NP_001289929.1:p.Ser159Thr, NP_001289929.1:p.Ser159Asn, NP_001289928.1:p.Ser159Thr, NP_001289928.1:p.Ser159Asn, NP_001289930.1:p.Ser159Thr, NP_001289930.1:p.Ser159Asn, NP_001366494.1:p.Ser159Thr, NP_001366494.1:p.Ser159Asn, XP_006724028.1:p.Ser188Thr, XP_006724028.1:p.Ser188Asn

Select item 14782294719.

rs1478229471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:14152668 (GRCh38)
21:15524989 (GRCh37)
Canonical SPDI:: NC_000021.9:14152667:G:T
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14152668G>T, NC_000021.8:g.15524989G>T, NG_021434.2:g.59266C>A, NM_198996.4:c.888C>A, NM_198996.3:c.1086C>A, NM_198996.2:c.1086C>A, NM_001302998.2:c.1023C>A, NM_001302998.1:c.1023C>A, NM_001303000.2:c.1005C>A, NM_001303000.1:c.1005C>A, NM_001302999.2:c.933C>A, NM_001302999.1:c.933C>A, NM_001379565.1:c.918C>A, NM_001379566.1:c.528C>A, XM_006723965.4:c.1110C>A, XM_006723965.3:c.1110C>A, XM_006723965.2:c.1110C>A, XM_006723965.1:c.1110C>A, NM_145317.1:c.*291C>A

Select item 147688683310.

rs1476886833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14181775 (GRCh38)
21:15554096 (GRCh37)
Canonical SPDI:: NC_000021.9:14181774:A:G
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14181775A>G, NC_000021.8:g.15554096A>G, NG_021434.2:g.30159T>C, NM_198996.4:c.491T>C, NM_198996.3:c.689T>C, NM_198996.2:c.689T>C, NM_001302998.2:c.626T>C, NM_001302998.1:c.626T>C, NM_001303000.2:c.626T>C, NM_001303000.1:c.626T>C, NM_001302999.2:c.626T>C, NM_001302999.1:c.626T>C, NM_001303001.2:c.626T>C, NM_001303001.1:c.626T>C, NM_001379565.1:c.626T>C, NM_001379566.1:c.131T>C, XM_006723965.4:c.713T>C, XM_006723965.3:c.713T>C, XM_006723965.2:c.713T>C, XM_006723965.1:c.713T>C, NM_145317.1:c.491T>C, NP_945347.3:p.Ile164Thr, NP_001289927.1:p.Ile209Thr, NP_001289929.1:p.Ile209Thr, NP_001289928.1:p.Ile209Thr, NP_001289930.1:p.Ile209Thr, NP_001366494.1:p.Ile209Thr, NP_001366495.1:p.Ile44Thr, XP_006724028.1:p.Ile238Thr

Select item 147394312711.

rs1473943127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14189218 (GRCh38)
21:15561539 (GRCh37)
Canonical SPDI:: NC_000021.9:14189217:T:C
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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_000021.9:g.14189218T>C, NC_000021.8:g.15561539T>C, NG_021434.2:g.22716A>G, NM_198996.4:c.113A>G, NM_198996.3:c.311A>G, NM_198996.2:c.311A>G, NM_001302998.2:c.248A>G, NM_001302998.1:c.248A>G, NM_001303000.2:c.248A>G, NM_001303000.1:c.248A>G, NM_001302999.2:c.248A>G, NM_001302999.1:c.248A>G, NM_001303001.2:c.248A>G, NM_001303001.1:c.248A>G, NM_001379565.1:c.248A>G, XM_006723965.4:c.335A>G, XM_006723965.3:c.335A>G, XM_006723965.2:c.335A>G, XM_006723965.1:c.335A>G, NM_145317.1:c.113A>G, NP_945347.3:p.Tyr38Cys, NP_001289927.1:p.Tyr83Cys, NP_001289929.1:p.Tyr83Cys, NP_001289928.1:p.Tyr83Cys, NP_001289930.1:p.Tyr83Cys, NP_001366494.1:p.Tyr83Cys, XP_006724028.1:p.Tyr112Cys

Select item 146928901712.

rs1469289017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14109056 (GRCh38)
21:15481377 (GRCh37)
Canonical SPDI:: NC_000021.9:14109055:A:G
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.14109056A>G, NC_000021.8:g.15481377A>G, NG_021434.2:g.102878T>C, NM_198996.4:c.1185T>C, NM_198996.3:c.1383T>C, NM_198996.2:c.1383T>C, NM_001302998.2:c.1320T>C, NM_001302998.1:c.1320T>C, NM_001303000.2:c.1302T>C, NM_001303000.1:c.1302T>C, NM_001302999.2:c.1230T>C, NM_001302999.1:c.1230T>C, NM_001303001.2:c.1031T>C, NM_001303001.1:c.1031T>C, NM_001379565.1:c.1215T>C, NM_001379566.1:c.825T>C, NG_022985.1:g.30183A>G, NM_145317.1:c.*588T>C, NP_001289930.1:p.Leu344Ser

Select item 146852382713.

rs1468523827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:14109055 (GRCh38)
21:15481376 (GRCh37)
Canonical SPDI:: NC_000021.9:14109054:C:A,NC_000021.9:14109054:C:G
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.14109055C>A, NC_000021.9:g.14109055C>G, NC_000021.8:g.15481376C>A, NC_000021.8:g.15481376C>G, NG_021434.2:g.102879G>T, NG_021434.2:g.102879G>C, NM_198996.4:c.1186G>T, NM_198996.4:c.1186G>C, NM_198996.3:c.1384G>T, NM_198996.3:c.1384G>C, NM_198996.2:c.1384G>T, NM_198996.2:c.1384G>C, NM_001302998.2:c.1321G>T, NM_001302998.2:c.1321G>C, NM_001302998.1:c.1321G>T, NM_001302998.1:c.1321G>C, NM_001303000.2:c.1303G>T, NM_001303000.2:c.1303G>C, NM_001303000.1:c.1303G>T, NM_001303000.1:c.1303G>C, NM_001302999.2:c.1231G>T, NM_001302999.2:c.1231G>C, NM_001302999.1:c.1231G>T, NM_001302999.1:c.1231G>C, NM_001303001.2:c.1032G>T, NM_001303001.2:c.1032G>C, NM_001303001.1:c.1032G>T, NM_001303001.1:c.1032G>C, NM_001379565.1:c.1216G>T, NM_001379565.1:c.1216G>C, NM_001379566.1:c.826G>T, NM_001379566.1:c.826G>C, NG_022985.1:g.30182C>A, NG_022985.1:g.30182C>G, NM_145317.1:c.*589G>T, NM_145317.1:c.*589G>C, NP_945347.3:p.Val396Leu, NP_945347.3:p.Val396Leu, NP_001289927.1:p.Val441Leu, NP_001289927.1:p.Val441Leu, NP_001289929.1:p.Val435Leu, NP_001289929.1:p.Val435Leu, NP_001289928.1:p.Val411Leu, NP_001289928.1:p.Val411Leu, NP_001289930.1:p.Leu344Phe, NP_001289930.1:p.Leu344Phe, NP_001366494.1:p.Val406Leu, NP_001366494.1:p.Val406Leu, NP_001366495.1:p.Val276Leu, NP_001366495.1:p.Val276Leu

Select item 146060842614.

rs1460608426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14186010 (GRCh38)
21:15558331 (GRCh37)
Canonical SPDI:: NC_000021.9:14186009:G:A
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14186010G>A, NC_000021.8:g.15558331G>A, NG_021434.2:g.25924C>T, NM_198996.4:c.357C>T, NM_198996.3:c.555C>T, NM_198996.2:c.555C>T, NM_001302998.2:c.492C>T, NM_001302998.1:c.492C>T, NM_001303000.2:c.492C>T, NM_001303000.1:c.492C>T, NM_001302999.2:c.492C>T, NM_001302999.1:c.492C>T, NM_001303001.2:c.492C>T, NM_001303001.1:c.492C>T, NM_001379565.1:c.492C>T, XM_006723965.4:c.579C>T, XM_006723965.3:c.579C>T, XM_006723965.2:c.579C>T, XM_006723965.1:c.579C>T, NM_145317.1:c.357C>T

Select item 145837027315.

rs1458370273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14189117 (GRCh38)
21:15561438 (GRCh37)
Canonical SPDI:: NC_000021.9:14189116:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14189117C>T, NC_000021.8:g.15561438C>T, NG_021434.2:g.22817G>A, NM_198996.4:c.214G>A, NM_198996.3:c.412G>A, NM_198996.2:c.412G>A, NM_001302998.2:c.349G>A, NM_001302998.1:c.349G>A, NM_001303000.2:c.349G>A, NM_001303000.1:c.349G>A, NM_001302999.2:c.349G>A, NM_001302999.1:c.349G>A, NM_001303001.2:c.349G>A, NM_001303001.1:c.349G>A, NM_001379565.1:c.349G>A, XM_006723965.4:c.436G>A, XM_006723965.3:c.436G>A, XM_006723965.2:c.436G>A, XM_006723965.1:c.436G>A, NM_145317.1:c.214G>A, NP_945347.3:p.Ala72Thr, NP_001289927.1:p.Ala117Thr, NP_001289929.1:p.Ala117Thr, NP_001289928.1:p.Ala117Thr, NP_001289930.1:p.Ala117Thr, NP_001366494.1:p.Ala117Thr, XP_006724028.1:p.Ala146Thr

Select item 145798577016.

rs1457985770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14181801 (GRCh38)
21:15554122 (GRCh37)
Canonical SPDI:: NC_000021.9:14181800:G:A
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14181801G>A, NC_000021.8:g.15554122G>A, NG_021434.2:g.30133C>T, NM_198996.4:c.465C>T, NM_198996.3:c.663C>T, NM_198996.2:c.663C>T, NM_001302998.2:c.600C>T, NM_001302998.1:c.600C>T, NM_001303000.2:c.600C>T, NM_001303000.1:c.600C>T, NM_001302999.2:c.600C>T, NM_001302999.1:c.600C>T, NM_001303001.2:c.600C>T, NM_001303001.1:c.600C>T, NM_001379565.1:c.600C>T, NM_001379566.1:c.105C>T, XM_006723965.4:c.687C>T, XM_006723965.3:c.687C>T, XM_006723965.2:c.687C>T, XM_006723965.1:c.687C>T, NM_145317.1:c.465C>T

Select item 145778714817.

rs1457787148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14189371 (GRCh38)
21:15561692 (GRCh37)
Canonical SPDI:: NC_000021.9:14189370:G:A
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000021.9:g.14189371G>A, NC_000021.8:g.15561692G>A, NG_021434.2:g.22563C>T, NM_198996.4:c.-41C>T, NM_198996.3:c.158C>T, NM_198996.2:c.158C>T, NM_001302998.2:c.95C>T, NM_001302998.1:c.95C>T, NM_001303000.2:c.95C>T, NM_001303000.1:c.95C>T, NM_001302999.2:c.95C>T, NM_001302999.1:c.95C>T, NM_001303001.2:c.95C>T, NM_001303001.1:c.95C>T, NM_001379565.1:c.95C>T, XM_006723965.4:c.182C>T, XM_006723965.3:c.182C>T, XM_006723965.2:c.182C>T, XM_006723965.1:c.182C>T, NM_145317.1:c.-41C>T, NP_001289927.1:p.Ser32Phe, NP_001289929.1:p.Ser32Phe, NP_001289928.1:p.Ser32Phe, NP_001289930.1:p.Ser32Phe, NP_001366494.1:p.Ser32Phe, XP_006724028.1:p.Ser61Phe

Select item 145672254318.

rs1456722543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14186061 (GRCh38)
21:15558382 (GRCh37)
Canonical SPDI:: NC_000021.9:14186060:A:G
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.14186061A>G, NC_000021.8:g.15558382A>G, NG_021434.2:g.25873T>C, NM_198996.4:c.306T>C, NM_198996.3:c.504T>C, NM_198996.2:c.504T>C, NM_001302998.2:c.441T>C, NM_001302998.1:c.441T>C, NM_001303000.2:c.441T>C, NM_001303000.1:c.441T>C, NM_001302999.2:c.441T>C, NM_001302999.1:c.441T>C, NM_001303001.2:c.441T>C, NM_001303001.1:c.441T>C, NM_001379565.1:c.441T>C, XM_006723965.4:c.528T>C, XM_006723965.3:c.528T>C, XM_006723965.2:c.528T>C, XM_006723965.1:c.528T>C, NM_145317.1:c.306T>C

Select item 145435160319.

rs1454351603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14163439 (GRCh38)
21:15535760 (GRCh37)
Canonical SPDI:: NC_000021.9:14163438:C:T
Gene:: LIPI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14163439C>T, NC_000021.8:g.15535760C>T, NG_021434.2:g.48495G>A, NM_198996.4:c.851G>A, NM_198996.3:c.1049G>A, NM_198996.2:c.1049G>A, NM_001302998.2:c.986G>A, NM_001302998.1:c.986G>A, NM_001303000.2:c.986G>A, NM_001303000.1:c.986G>A, NM_001302999.2:c.896G>A, NM_001302999.1:c.896G>A, NM_001303001.2:c.986G>A, NM_001303001.1:c.986G>A, NM_001379565.1:c.881G>A, NM_001379566.1:c.491G>A, XM_006723965.4:c.1073G>A, XM_006723965.3:c.1073G>A, XM_006723965.2:c.1073G>A, XM_006723965.1:c.1073G>A, NM_145317.1:c.*254G>A, NP_945347.3:p.Ser284Asn, NP_001289927.1:p.Ser329Asn, NP_001289929.1:p.Ser329Asn, NP_001289928.1:p.Ser299Asn, NP_001289930.1:p.Ser329Asn, NP_001366494.1:p.Ser294Asn, NP_001366495.1:p.Ser164Asn, XP_006724028.1:p.Ser358Asn

Select item 145400467920.

rs1454004679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14163507 (GRCh38)
21:15535828 (GRCh37)
Canonical SPDI:: NC_000021.9:14163506:T:C
Gene:: LIPI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.14163507T>C, NC_000021.8:g.15535828T>C, NG_021434.2:g.48427A>G, NM_198996.4:c.783A>G, NM_198996.3:c.981A>G, NM_198996.2:c.981A>G, NM_001302998.2:c.918A>G, NM_001302998.1:c.918A>G, NM_001303000.2:c.918A>G, NM_001303000.1:c.918A>G, NM_001302999.2:c.828A>G, NM_001302999.1:c.828A>G, NM_001303001.2:c.918A>G, NM_001303001.1:c.918A>G, NM_001379565.1:c.813A>G, NM_001379566.1:c.423A>G, XM_006723965.4:c.1005A>G, XM_006723965.3:c.1005A>G, XM_006723965.2:c.1005A>G, XM_006723965.1:c.1005A>G, NM_145317.1:c.*186A>G

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