SNP Links for Protein (Select 189571695) - SNP

Links from Protein

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Select item 14905543031.

rs1490554303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:88813191 (GRCh38)
10:90572948 (GRCh37)
Canonical SPDI:: NC_000010.11:88813190:G:T
Gene:: LIPM (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88813191G>T, NC_000010.10:g.90572948G>T, XM_011539751.4:c.-25G>T, XM_011539751.3:c.-25G>T, XM_011539751.2:c.-25G>T, XM_011539751.1:c.-25G>T, XM_011539748.4:c.360G>T, XM_011539748.3:c.360G>T, XM_011539748.2:c.360G>T, XM_011539748.1:c.360G>T, NM_001128215.1:c.360G>T

Select item 14888326532.

rs1488832653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:88808309 (GRCh38)
10:90568066 (GRCh37)
Canonical SPDI:: NC_000010.11:88808308:C:G,NC_000010.11:88808308:C:T
Gene:: LIPM (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.88808309C>G, NC_000010.11:g.88808309C>T, NC_000010.10:g.90568066C>G, NC_000010.10:g.90568066C>T, XM_011539748.4:c.159C>G, XM_011539748.4:c.159C>T, XM_011539748.3:c.159C>G, XM_011539748.3:c.159C>T, XM_011539748.2:c.159C>G, XM_011539748.2:c.159C>T, XM_011539748.1:c.159C>G, XM_011539748.1:c.159C>T, NM_001128215.1:c.159C>G, NM_001128215.1:c.159C>T, XP_011538050.1:p.Ile53Met, NP_001121687.1:p.Ile53Met

Select item 14881658503.

rs1488165850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:88820313 (GRCh38)
10:90580070 (GRCh37)
Canonical SPDI:: NC_000010.11:88820312:C:A,NC_000010.11:88820312:C:T
Gene:: ANKRD22 (Varview), LIPM (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88820313C>A, NC_000010.11:g.88820313C>T, NC_000010.10:g.90580070C>A, NC_000010.10:g.90580070C>T, XM_011539751.4:c.721C>A, XM_011539751.4:c.721C>T, XM_011539751.3:c.721C>A, XM_011539751.3:c.721C>T, XM_011539751.2:c.721C>A, XM_011539751.2:c.721C>T, XM_011539751.1:c.721C>A, XM_011539751.1:c.721C>T, XM_011539748.4:c.1105C>A, XM_011539748.4:c.1105C>T, XM_011539748.3:c.1105C>A, XM_011539748.3:c.1105C>T, XM_011539748.2:c.1105C>A, XM_011539748.2:c.1105C>T, XM_011539748.1:c.1105C>A, XM_011539748.1:c.1105C>T, XM_011539752.4:c.535C>A, XM_011539752.4:c.535C>T, XM_011539752.3:c.535C>A, XM_011539752.3:c.535C>T, XM_011539752.2:c.535C>A, XM_011539752.2:c.535C>T, XM_011539752.1:c.535C>A, XM_011539752.1:c.535C>T, NM_144590.3:c.*2628G>T, NM_144590.3:c.*2628G>A, NM_144590.2:c.*2628G>T, NM_144590.2:c.*2628G>A, NM_001128215.1:c.1084C>A, NM_001128215.1:c.1084C>T, XP_011538053.1:p.Pro241Thr, XP_011538053.1:p.Pro241Ser, XP_011538050.1:p.Pro369Thr, XP_011538050.1:p.Pro369Ser, XP_011538054.1:p.Pro179Thr, XP_011538054.1:p.Pro179Ser, NP_001121687.1:p.Pro362Thr, NP_001121687.1:p.Pro362Ser

Select item 14867319564.

rs1486731956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:88808383 (GRCh38)
10:90568140 (GRCh37)
Canonical SPDI:: NC_000010.11:88808382:T:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.88808383T>A, NC_000010.10:g.90568140T>A, XM_011539748.4:c.233T>A, XM_011539748.3:c.233T>A, XM_011539748.2:c.233T>A, XM_011539748.1:c.233T>A, NM_001128215.1:c.233T>A, XP_011538050.1:p.Ile78Asn, NP_001121687.1:p.Ile78Asn

Select item 14859449205.

rs1485944920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:88815220 (GRCh38)
10:90574977 (GRCh37)
Canonical SPDI:: NC_000010.11:88815219:T:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88815220T>A, NC_000010.10:g.90574977T>A, XM_011539751.4:c.323T>A, XM_011539751.3:c.323T>A, XM_011539751.2:c.323T>A, XM_011539751.1:c.323T>A, XM_011539748.4:c.707T>A, XM_011539748.3:c.707T>A, XM_011539748.2:c.707T>A, XM_011539748.1:c.707T>A, XM_011539752.4:c.137T>A, XM_011539752.3:c.137T>A, XM_011539752.2:c.137T>A, XM_011539752.1:c.137T>A, NM_001128215.1:c.707T>A, XP_011538053.1:p.Ile108Asn, XP_011538050.1:p.Ile236Asn, XP_011538054.1:p.Ile46Asn, NP_001121687.1:p.Ile236Asn

Select item 14839891696.

rs1483989169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88820413 (GRCh38)
10:90580170 (GRCh37)
Canonical SPDI:: NC_000010.11:88820412:C:T
Gene:: ANKRD22 (Varview), LIPM (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88820413C>T, NC_000010.10:g.90580170C>T, XM_011539751.4:c.821C>T, XM_011539751.3:c.821C>T, XM_011539751.2:c.821C>T, XM_011539751.1:c.821C>T, XM_011539748.4:c.1205C>T, XM_011539748.3:c.1205C>T, XM_011539748.2:c.1205C>T, XM_011539748.1:c.1205C>T, XM_011539752.4:c.635C>T, XM_011539752.3:c.635C>T, XM_011539752.2:c.635C>T, XM_011539752.1:c.635C>T, NM_144590.3:c.*2528G>A, NM_144590.2:c.*2528G>A, NM_001128215.1:c.1184C>T, XP_011538053.1:p.Ala274Val, XP_011538050.1:p.Ala402Val, XP_011538054.1:p.Ala212Val, NP_001121687.1:p.Ala395Val

Select item 14820775647.

rs1482077564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:88815114 (GRCh38)
10:90574871 (GRCh37)
Canonical SPDI:: NC_000010.11:88815113:G:C
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88815114G>C, NC_000010.10:g.90574871G>C, XM_011539751.4:c.217G>C, XM_011539751.3:c.217G>C, XM_011539751.2:c.217G>C, XM_011539751.1:c.217G>C, XM_011539748.4:c.601G>C, XM_011539748.3:c.601G>C, XM_011539748.2:c.601G>C, XM_011539748.1:c.601G>C, XM_011539752.4:c.31G>C, XM_011539752.3:c.31G>C, XM_011539752.2:c.31G>C, XM_011539752.1:c.31G>C, NM_001128215.1:c.601G>C, XP_011538053.1:p.Glu73Gln, XP_011538050.1:p.Glu201Gln, XP_011538054.1:p.Glu11Gln, NP_001121687.1:p.Glu201Gln

Select item 14755117078.

rs1475511707 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAT>- [Show Flanks]
Chromosome:: 10:88815137 (GRCh38)
10:90574894 (GRCh37)
Canonical SPDI:: NC_000010.11:88815134:ATGTAT:AT
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000010.11:g.88815137_88815140del, NC_000010.10:g.90574894_90574897del, XM_011539751.4:c.240_243del, XM_011539751.3:c.240_243del, XM_011539751.2:c.240_243del, XM_011539751.1:c.240_243del, XM_011539748.4:c.624_627del, XM_011539748.3:c.624_627del, XM_011539748.2:c.624_627del, XM_011539748.1:c.624_627del, XM_011539752.4:c.54_57del, XM_011539752.3:c.54_57del, XM_011539752.2:c.54_57del, XM_011539752.1:c.54_57del, NM_001128215.1:c.624_627del, XP_011538053.1:p.Met80fs, XP_011538050.1:p.Met208fs, XP_011538054.1:p.Met18fs, NP_001121687.1:p.Met208fs

Select item 14735574859.

rs1473557485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:88820330 (GRCh38)
10:90580087 (GRCh37)
Canonical SPDI:: NC_000010.11:88820329:G:A,NC_000010.11:88820329:G:C
Gene:: ANKRD22 (Varview), LIPM (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88820330G>A, NC_000010.11:g.88820330G>C, NC_000010.10:g.90580087G>A, NC_000010.10:g.90580087G>C, XM_011539751.4:c.738G>A, XM_011539751.4:c.738G>C, XM_011539751.3:c.738G>A, XM_011539751.3:c.738G>C, XM_011539751.2:c.738G>A, XM_011539751.2:c.738G>C, XM_011539751.1:c.738G>A, XM_011539751.1:c.738G>C, XM_011539748.4:c.1122G>A, XM_011539748.4:c.1122G>C, XM_011539748.3:c.1122G>A, XM_011539748.3:c.1122G>C, XM_011539748.2:c.1122G>A, XM_011539748.2:c.1122G>C, XM_011539748.1:c.1122G>A, XM_011539748.1:c.1122G>C, XM_011539752.4:c.552G>A, XM_011539752.4:c.552G>C, XM_011539752.3:c.552G>A, XM_011539752.3:c.552G>C, XM_011539752.2:c.552G>A, XM_011539752.2:c.552G>C, XM_011539752.1:c.552G>A, XM_011539752.1:c.552G>C, NM_144590.3:c.*2611C>T, NM_144590.3:c.*2611C>G, NM_144590.2:c.*2611C>T, NM_144590.2:c.*2611C>G, NM_001128215.1:c.1101G>A, NM_001128215.1:c.1101G>C, XP_011538053.1:p.Met246Ile, XP_011538053.1:p.Met246Ile, XP_011538050.1:p.Met374Ile, XP_011538050.1:p.Met374Ile, XP_011538054.1:p.Met184Ile, XP_011538054.1:p.Met184Ile, NP_001121687.1:p.Met367Ile, NP_001121687.1:p.Met367Ile

Select item 147243754510.

rs1472437545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88808389 (GRCh38)
10:90568146 (GRCh37)
Canonical SPDI:: NC_000010.11:88808388:G:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88808389G>A, NC_000010.10:g.90568146G>A, XM_011539748.4:c.239G>A, XM_011539748.3:c.239G>A, XM_011539748.2:c.239G>A, XM_011539748.1:c.239G>A, NM_001128215.1:c.239G>A, XP_011538050.1:p.Arg80Gln, NP_001121687.1:p.Arg80Gln

Select item 146941553511.

rs1469415535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88815097 (GRCh38)
10:90574854 (GRCh37)
Canonical SPDI:: NC_000010.11:88815096:C:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
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.88815097C>A, NC_000010.10:g.90574854C>A, XM_011539751.4:c.200C>A, XM_011539751.3:c.200C>A, XM_011539751.2:c.200C>A, XM_011539751.1:c.200C>A, XM_011539748.4:c.584C>A, XM_011539748.3:c.584C>A, XM_011539748.2:c.584C>A, XM_011539748.1:c.584C>A, XM_011539752.4:c.14C>A, XM_011539752.3:c.14C>A, XM_011539752.2:c.14C>A, XM_011539752.1:c.14C>A, NM_001128215.1:c.584C>A, XP_011538053.1:p.Ala67Glu, XP_011538050.1:p.Ala195Glu, XP_011538054.1:p.Ala5Glu, NP_001121687.1:p.Ala195Glu

Select item 146810661712.

rs1468106617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88815186 (GRCh38)
10:90574943 (GRCh37)
Canonical SPDI:: NC_000010.11:88815185:G:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88815186G>A, NC_000010.10:g.90574943G>A, XM_011539751.4:c.289G>A, XM_011539751.3:c.289G>A, XM_011539751.2:c.289G>A, XM_011539751.1:c.289G>A, XM_011539748.4:c.673G>A, XM_011539748.3:c.673G>A, XM_011539748.2:c.673G>A, XM_011539748.1:c.673G>A, XM_011539752.4:c.103G>A, XM_011539752.3:c.103G>A, XM_011539752.2:c.103G>A, XM_011539752.1:c.103G>A, NM_001128215.1:c.673G>A, XP_011538053.1:p.Gly97Arg, XP_011538050.1:p.Gly225Arg, XP_011538054.1:p.Gly35Arg, NP_001121687.1:p.Gly225Arg

Select item 146671896813.

rs1466718968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88802988 (GRCh38)
10:90562745 (GRCh37)
Canonical SPDI:: NC_000010.11:88802987:T:C
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000025/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88802988T>C, NC_000010.10:g.90562745T>C, XM_011539748.4:c.92T>C, XM_011539748.3:c.92T>C, XM_011539748.2:c.92T>C, XM_011539748.1:c.92T>C, NM_001128215.1:c.92T>C, XP_011538050.1:p.Val31Ala, NP_001121687.1:p.Val31Ala

Select item 146332649914.

rs1463326499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88815493 (GRCh38)
10:90575250 (GRCh37)
Canonical SPDI:: NC_000010.11:88815492:A:G
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88815493A>G, NC_000010.10:g.90575250A>G, XM_011539751.4:c.464A>G, XM_011539751.3:c.464A>G, XM_011539751.2:c.464A>G, XM_011539751.1:c.464A>G, XM_011539748.4:c.848A>G, XM_011539748.3:c.848A>G, XM_011539748.2:c.848A>G, XM_011539748.1:c.848A>G, XM_011539752.4:c.278A>G, XM_011539752.3:c.278A>G, XM_011539752.2:c.278A>G, XM_011539752.1:c.278A>G, NM_001128215.1:c.848A>G, XP_011538053.1:p.Asn155Ser, XP_011538050.1:p.Asn283Ser, XP_011538054.1:p.Asn93Ser, NP_001121687.1:p.Asn283Ser

Select item 146015199715.

rs1460151997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88813220 (GRCh38)
10:90572977 (GRCh37)
Canonical SPDI:: NC_000010.11:88813219:G:A
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_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_000010.11:g.88813220G>A, NC_000010.10:g.90572977G>A, XM_011539751.4:c.5G>A, XM_011539751.3:c.5G>A, XM_011539751.2:c.5G>A, XM_011539751.1:c.5G>A, XM_011539748.4:c.389G>A, XM_011539748.3:c.389G>A, XM_011539748.2:c.389G>A, XM_011539748.1:c.389G>A, NM_001128215.1:c.389G>A, XP_011538053.1:p.Gly2Glu, XP_011538050.1:p.Gly130Glu, NP_001121687.1:p.Gly130Glu

Select item 145857419416.

rs1458574194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:88820233 (GRCh38)
10:90579990 (GRCh37)
Canonical SPDI:: NC_000010.11:88820232:C:A,NC_000010.11:88820232:C:T
Gene:: ANKRD22 (Varview), LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.88820233C>A, NC_000010.11:g.88820233C>T, NC_000010.10:g.90579990C>A, NC_000010.10:g.90579990C>T, XM_011539751.4:c.641C>A, XM_011539751.4:c.641C>T, XM_011539751.3:c.641C>A, XM_011539751.3:c.641C>T, XM_011539751.2:c.641C>A, XM_011539751.2:c.641C>T, XM_011539751.1:c.641C>A, XM_011539751.1:c.641C>T, XM_011539748.4:c.1025C>A, XM_011539748.4:c.1025C>T, XM_011539748.3:c.1025C>A, XM_011539748.3:c.1025C>T, XM_011539748.2:c.1025C>A, XM_011539748.2:c.1025C>T, XM_011539748.1:c.1025C>A, XM_011539748.1:c.1025C>T, XM_011539752.4:c.455C>A, XM_011539752.4:c.455C>T, XM_011539752.3:c.455C>A, XM_011539752.3:c.455C>T, XM_011539752.2:c.455C>A, XM_011539752.2:c.455C>T, XM_011539752.1:c.455C>A, XM_011539752.1:c.455C>T, NM_144590.3:c.*2708G>T, NM_144590.3:c.*2708G>A, NM_144590.2:c.*2708G>T, NM_144590.2:c.*2708G>A, NM_001128215.1:c.1004C>A, NM_001128215.1:c.1004C>T, XP_011538053.1:p.Pro214Gln, XP_011538053.1:p.Pro214Leu, XP_011538050.1:p.Pro342Gln, XP_011538050.1:p.Pro342Leu, XP_011538054.1:p.Pro152Gln, XP_011538054.1:p.Pro152Leu, NP_001121687.1:p.Pro335Gln, NP_001121687.1:p.Pro335Leu

Select item 145722108617.

rs1457221086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88820286 (GRCh38)
10:90580043 (GRCh37)
Canonical SPDI:: NC_000010.11:88820285:A:G
Gene:: ANKRD22 (Varview), LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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_000010.11:g.88820286A>G, NC_000010.10:g.90580043A>G, XM_011539751.4:c.694A>G, XM_011539751.3:c.694A>G, XM_011539751.2:c.694A>G, XM_011539751.1:c.694A>G, XM_011539748.4:c.1078A>G, XM_011539748.3:c.1078A>G, XM_011539748.2:c.1078A>G, XM_011539748.1:c.1078A>G, XM_011539752.4:c.508A>G, XM_011539752.3:c.508A>G, XM_011539752.2:c.508A>G, XM_011539752.1:c.508A>G, NM_144590.3:c.*2655T>C, NM_144590.2:c.*2655T>C, NM_001128215.1:c.1057A>G, XP_011538053.1:p.Thr232Ala, XP_011538050.1:p.Thr360Ala, XP_011538054.1:p.Thr170Ala, NP_001121687.1:p.Thr353Ala

Select item 145720368218.

rs1457203682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:88813139 (GRCh38)
10:90572896 (GRCh37)
Canonical SPDI:: NC_000010.11:88813138:G:T
Gene:: LIPM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000010.11:g.88813139G>T, NC_000010.10:g.90572896G>T, XM_011539751.4:c.-77G>T, XM_011539751.3:c.-77G>T, XM_011539751.2:c.-77G>T, XM_011539751.1:c.-77G>T, XM_011539748.4:c.308G>T, XM_011539748.3:c.308G>T, XM_011539748.2:c.308G>T, XM_011539748.1:c.308G>T, NM_001128215.1:c.308G>T, XP_011538050.1:p.Gly103Val, NP_001121687.1:p.Gly103Val

Select item 145658328519.

rs1456583285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88816823 (GRCh38)
10:90576580 (GRCh37)
Canonical SPDI:: NC_000010.11:88816822:C:T
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88816823C>T, NC_000010.10:g.90576580C>T, XM_011539751.4:c.503C>T, XM_011539751.3:c.503C>T, XM_011539751.2:c.503C>T, XM_011539751.1:c.503C>T, XM_011539748.4:c.887C>T, XM_011539748.3:c.887C>T, XM_011539748.2:c.887C>T, XM_011539748.1:c.887C>T, XM_011539752.4:c.317C>T, XM_011539752.3:c.317C>T, XM_011539752.2:c.317C>T, XM_011539752.1:c.317C>T, NM_001128215.1:c.866C>T, XP_011538053.1:p.Ala168Val, XP_011538050.1:p.Ala296Val, XP_011538054.1:p.Ala106Val, NP_001121687.1:p.Ala289Val

Select item 145656435420.

rs1456564354 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:88814572 (GRCh38)
10:90574329 (GRCh37)
Canonical SPDI:: NC_000010.11:88814571:C:
Gene:: LIPM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88814572del, NC_000010.10:g.90574329del, XM_011539751.4:c.123del, XM_011539751.3:c.123del, XM_011539751.2:c.123del, XM_011539751.1:c.123del, XM_011539748.4:c.507del, XM_011539748.3:c.507del, XM_011539748.2:c.507del, XM_011539748.1:c.507del, NM_001128215.1:c.507del, XP_011538053.1:p.Phe42fs, XP_011538050.1:p.Phe170fs, NP_001121687.1:p.Phe170fs

dbSNP

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