SNP Links for Protein (Select 311771512) - SNP

Links from Protein

Items: 1 to 20 of 323

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Select item 14906369861.

rs1490636986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:88667363 (GRCh38)
10:90427120 (GRCh37)
Canonical SPDI:: NC_000010.11:88667362:A:C
Gene:: LIPF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.88667363A>C, NC_000010.10:g.90427120A>C, NM_004190.4:c.66A>C, NM_004190.3:c.66A>C, NM_001198829.2:c.96A>C, NM_001198829.1:c.96A>C, XM_011540311.2:c.66A>C, XM_011540311.1:c.66A>C, NM_001198830.2:c.96A>C, NM_001198830.1:c.96A>C, NM_001198828.2:c.66A>C, NM_001198828.1:c.66A>C

Select item 14860753692.

rs1486075369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:88678514 (GRCh38)
10:90438271 (GRCh37)
Canonical SPDI:: NC_000010.11:88678513:C:G
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88678514C>G, NC_000010.10:g.90438271C>G, NM_004190.4:c.1030C>G, NM_004190.3:c.1030C>G, NM_001198829.2:c.1060C>G, NM_001198829.1:c.1060C>G, XM_011540311.2:c.1030C>G, XM_011540311.1:c.1030C>G, NM_001198830.2:c.961C>G, NM_001198830.1:c.961C>G, NM_001198828.2:c.931C>G, NM_001198828.1:c.931C>G, NP_004181.1:p.Leu344Val, NP_001185758.1:p.Leu354Val, XP_011538613.1:p.Leu344Val, NP_001185759.1:p.Leu321Val, NP_001185757.1:p.Leu311Val

Select item 14820564303.

rs1482056430 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:88673614 (GRCh38)
10:90433371 (GRCh37)
Canonical SPDI:: NC_000010.11:88673613:CCC:CC
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88673616del, NC_000010.10:g.90433373del, NM_004190.4:c.698del, NM_004190.3:c.698del, NM_001198829.2:c.728del, NM_001198829.1:c.728del, XM_011540311.2:c.698del, XM_011540311.1:c.698del, NM_001198830.2:c.629del, NM_001198830.1:c.629del, NM_001198828.2:c.599del, NM_001198828.1:c.599del, NP_004181.1:p.Pro233fs, NP_001185758.1:p.Pro243fs, XP_011538613.1:p.Pro233fs, NP_001185759.1:p.Pro210fs, NP_001185757.1:p.Pro200fs

Select item 14804649084.

rs1480464908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:88667368 (GRCh38)
10:90427125 (GRCh37)
Canonical SPDI:: NC_000010.11:88667367:T:C,NC_000010.11:88667367:T:G
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88667368T>C, NC_000010.11:g.88667368T>G, NC_000010.10:g.90427125T>C, NC_000010.10:g.90427125T>G, NM_004190.4:c.71T>C, NM_004190.4:c.71T>G, NM_004190.3:c.71T>C, NM_004190.3:c.71T>G, NM_001198829.2:c.101T>C, NM_001198829.2:c.101T>G, NM_001198829.1:c.101T>C, NM_001198829.1:c.101T>G, XM_011540311.2:c.71T>C, XM_011540311.2:c.71T>G, XM_011540311.1:c.71T>C, XM_011540311.1:c.71T>G, NM_001198830.2:c.101T>C, NM_001198830.2:c.101T>G, NM_001198830.1:c.101T>C, NM_001198830.1:c.101T>G, NM_001198828.2:c.71T>C, NM_001198828.2:c.71T>G, NM_001198828.1:c.71T>C, NM_001198828.1:c.71T>G, NP_004181.1:p.Leu24Ser, NP_004181.1:p.Leu24Ter, NP_001185758.1:p.Leu34Ser, NP_001185758.1:p.Leu34Ter, XP_011538613.1:p.Leu24Ser, XP_011538613.1:p.Leu24Ter, NP_001185759.1:p.Leu34Ser, NP_001185759.1:p.Leu34Ter, NP_001185757.1:p.Leu24Ser, NP_001185757.1:p.Leu24Ter

Select item 14750866765.

rs1475086676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88673682 (GRCh38)
10:90433439 (GRCh37)
Canonical SPDI:: NC_000010.11:88673681:G:A
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88673682G>A, NC_000010.10:g.90433439G>A, NM_004190.4:c.764G>A, NM_004190.3:c.764G>A, NM_001198829.2:c.794G>A, NM_001198829.1:c.794G>A, XM_011540311.2:c.764G>A, XM_011540311.1:c.764G>A, NM_001198830.2:c.695G>A, NM_001198830.1:c.695G>A, NM_001198828.2:c.665G>A, NM_001198828.1:c.665G>A, NP_004181.1:p.Cys255Tyr, NP_001185758.1:p.Cys265Tyr, XP_011538613.1:p.Cys255Tyr, NP_001185759.1:p.Cys232Tyr, NP_001185757.1:p.Cys222Tyr

Select item 14714752336.

rs1471475233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:88676209 (GRCh38)
10:90435966 (GRCh37)
Canonical SPDI:: NC_000010.11:88676208:G:T
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88676209G>T, NC_000010.10:g.90435966G>T, NM_004190.4:c.889G>T, NM_004190.3:c.889G>T, NM_001198829.2:c.919G>T, NM_001198829.1:c.919G>T, XM_011540311.2:c.889G>T, XM_011540311.1:c.889G>T, NM_001198830.2:c.820G>T, NM_001198830.1:c.820G>T, NM_001198828.2:c.790G>T, NM_001198828.1:c.790G>T, NP_004181.1:p.Ala297Ser, NP_001185758.1:p.Ala307Ser, XP_011538613.1:p.Ala297Ser, NP_001185759.1:p.Ala274Ser, NP_001185757.1:p.Ala264Ser

Select item 14701193527.

rs1470119352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88669871 (GRCh38)
10:90429628 (GRCh37)
Canonical SPDI:: NC_000010.11:88669870:A:G
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.88669871A>G, NC_000010.10:g.90429628A>G, NM_004190.4:c.457A>G, NM_004190.3:c.457A>G, NM_001198829.2:c.487A>G, NM_001198829.1:c.487A>G, XM_011540311.2:c.457A>G, XM_011540311.1:c.457A>G, NM_001198830.2:c.388A>G, NM_001198830.1:c.388A>G, NM_001198828.2:c.358A>G, NM_001198828.1:c.358A>G, NP_004181.1:p.Thr153Ala, NP_001185758.1:p.Thr163Ala, XP_011538613.1:p.Thr153Ala, NP_001185759.1:p.Thr130Ala, NP_001185757.1:p.Thr120Ala

Select item 14686513318.

rs1468651331 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:88667339 (GRCh38)
10:90427096 (GRCh37)
Canonical SPDI:: NC_000010.11:88667338:GGGG:GGG
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88667342del, NC_000010.10:g.90427099del, NM_004190.4:c.45del, NM_004190.3:c.45del, NM_001198829.2:c.75del, NM_001198829.1:c.75del, XM_011540311.2:c.45del, XM_011540311.1:c.45del, NM_001198830.2:c.75del, NM_001198830.1:c.75del, NM_001198828.2:c.45del, NM_001198828.1:c.45del, NP_004181.1:p.Thr16fs, NP_001185758.1:p.Thr26fs, XP_011538613.1:p.Thr16fs, NP_001185759.1:p.Thr26fs, NP_001185757.1:p.Thr16fs

Select item 14685965209.

rs1468596520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88669882 (GRCh38)
10:90429639 (GRCh37)
Canonical SPDI:: NC_000010.11:88669881:C:T
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.88669882C>T, NC_000010.10:g.90429639C>T, NM_004190.4:c.468C>T, NM_004190.3:c.468C>T, NM_001198829.2:c.498C>T, NM_001198829.1:c.498C>T, XM_011540311.2:c.468C>T, XM_011540311.1:c.468C>T, NM_001198830.2:c.399C>T, NM_001198830.1:c.399C>T, NM_001198828.2:c.369C>T, NM_001198828.1:c.369C>T

Select item 146597107510.

rs1465971075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88667329 (GRCh38)
10:90427086 (GRCh37)
Canonical SPDI:: NC_000010.11:88667328:T:C
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88667329T>C, NC_000010.10:g.90427086T>C, NM_004190.4:c.32T>C, NM_004190.3:c.32T>C, NM_001198829.2:c.62T>C, NM_001198829.1:c.62T>C, XM_011540311.2:c.32T>C, XM_011540311.1:c.32T>C, NM_001198830.2:c.62T>C, NM_001198830.1:c.62T>C, NM_001198828.2:c.32T>C, NM_001198828.1:c.32T>C, NP_004181.1:p.Ile11Thr, NP_001185758.1:p.Ile21Thr, XP_011538613.1:p.Ile11Thr, NP_001185759.1:p.Ile21Thr, NP_001185757.1:p.Ile11Thr

Select item 146211446211.

rs1462114462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88678648 (GRCh38)
10:90438405 (GRCh37)
Canonical SPDI:: NC_000010.11:88678647:C:A
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88678648C>A, NC_000010.10:g.90438405C>A, NM_004190.4:c.1164C>A, NM_004190.3:c.1164C>A, NM_001198829.2:c.1194C>A, NM_001198829.1:c.1194C>A, XM_011540311.2:c.1164C>A, XM_011540311.1:c.1164C>A, NM_001198830.2:c.1095C>A, NM_001198830.1:c.1095C>A, NM_001198828.2:c.1065C>A, NM_001198828.1:c.1065C>A, NP_004181.1:p.Asp388Glu, NP_001185758.1:p.Asp398Glu, XP_011538613.1:p.Asp388Glu, NP_001185759.1:p.Asp365Glu, NP_001185757.1:p.Asp355Glu

Select item 145570127212.

rs1455701272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88678559 (GRCh38)
10:90438316 (GRCh37)
Canonical SPDI:: NC_000010.11:88678558:C:T
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000010.11:g.88678559C>T, NC_000010.10:g.90438316C>T, NM_004190.4:c.1075C>T, NM_004190.3:c.1075C>T, NM_001198829.2:c.1105C>T, NM_001198829.1:c.1105C>T, XM_011540311.2:c.1075C>T, XM_011540311.1:c.1075C>T, NM_001198830.2:c.1006C>T, NM_001198830.1:c.1006C>T, NM_001198828.2:c.976C>T, NM_001198828.1:c.976C>T, NP_004181.1:p.Pro359Ser, NP_001185758.1:p.Pro369Ser, XP_011538613.1:p.Pro359Ser, NP_001185759.1:p.Pro336Ser, NP_001185757.1:p.Pro326Ser

Select item 145203407613.

rs1452034076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88671914 (GRCh38)
10:90431671 (GRCh37)
Canonical SPDI:: NC_000010.11:88671913:T:C
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88671914T>C, NC_000010.10:g.90431671T>C, NM_004190.4:c.618T>C, NM_004190.3:c.618T>C, NM_001198829.2:c.648T>C, NM_001198829.1:c.648T>C, XM_011540311.2:c.618T>C, XM_011540311.1:c.618T>C, NM_001198830.2:c.549T>C, NM_001198830.1:c.549T>C, NM_001198828.2:c.519T>C, NM_001198828.1:c.519T>C

Select item 145055590714.

rs1450555907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88675592 (GRCh38)
10:90435349 (GRCh37)
Canonical SPDI:: NC_000010.11:88675591:T:C
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88675592T>C, NC_000010.10:g.90435349T>C, NM_004190.4:c.823T>C, NM_004190.3:c.823T>C, NM_001198829.2:c.853T>C, NM_001198829.1:c.853T>C, XM_011540311.2:c.823T>C, XM_011540311.1:c.823T>C, NM_001198830.2:c.754T>C, NM_001198830.1:c.754T>C, NM_001198828.2:c.724T>C, NM_001198828.1:c.724T>C

Select item 145033886915.

rs1450338869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88668686 (GRCh38)
10:90428443 (GRCh37)
Canonical SPDI:: NC_000010.11:88668685:A:G
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88668686A>G, NC_000010.10:g.90428443A>G, NM_004190.4:c.352A>G, NM_004190.3:c.352A>G, NM_001198829.2:c.382A>G, NM_001198829.1:c.382A>G, XM_011540311.2:c.352A>G, XM_011540311.1:c.352A>G, NM_001198830.2:c.283A>G, NM_001198830.1:c.283A>G, NM_001198828.2:c.253A>G, NM_001198828.1:c.253A>G, NP_004181.1:p.Ser118Gly, NP_001185758.1:p.Ser128Gly, XP_011538613.1:p.Ser118Gly, NP_001185759.1:p.Ser95Gly, NP_001185757.1:p.Ser85Gly

Select item 144826871616.

rs1448268716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88678584 (GRCh38)
10:90438341 (GRCh37)
Canonical SPDI:: NC_000010.11:88678583:T:C
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88678584T>C, NC_000010.10:g.90438341T>C, NM_004190.4:c.1100T>C, NM_004190.3:c.1100T>C, NM_001198829.2:c.1130T>C, NM_001198829.1:c.1130T>C, XM_011540311.2:c.1100T>C, XM_011540311.1:c.1100T>C, NM_001198830.2:c.1031T>C, NM_001198830.1:c.1031T>C, NM_001198828.2:c.1001T>C, NM_001198828.1:c.1001T>C, NP_004181.1:p.Ile367Thr, NP_001185758.1:p.Ile377Thr, XP_011538613.1:p.Ile367Thr, NP_001185759.1:p.Ile344Thr, NP_001185757.1:p.Ile334Thr

Select item 144711065917.

rs1447110659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:88673694 (GRCh38)
10:90433451 (GRCh37)
Canonical SPDI:: NC_000010.11:88673693:T:A
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88673694T>A, NC_000010.10:g.90433451T>A, NM_004190.4:c.776T>A, NM_004190.3:c.776T>A, NM_001198829.2:c.806T>A, NM_001198829.1:c.806T>A, XM_011540311.2:c.776T>A, XM_011540311.1:c.776T>A, NM_001198830.2:c.707T>A, NM_001198830.1:c.707T>A, NM_001198828.2:c.677T>A, NM_001198828.1:c.677T>A, NP_004181.1:p.Leu259Ter, NP_001185758.1:p.Leu269Ter, XP_011538613.1:p.Leu259Ter, NP_001185759.1:p.Leu236Ter, NP_001185757.1:p.Leu226Ter

Select item 144684913118.

rs1446849131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88669903 (GRCh38)
10:90429660 (GRCh37)
Canonical SPDI:: NC_000010.11:88669902:G:A
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88669903G>A, NC_000010.10:g.90429660G>A, NM_004190.4:c.489G>A, NM_004190.3:c.489G>A, NM_001198829.2:c.519G>A, NM_001198829.1:c.519G>A, XM_011540311.2:c.489G>A, XM_011540311.1:c.489G>A, NM_001198830.2:c.420G>A, NM_001198830.1:c.420G>A, NM_001198828.2:c.390G>A, NM_001198828.1:c.390G>A

Select item 144564438919.

rs1445644389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88675626 (GRCh38)
10:90435383 (GRCh37)
Canonical SPDI:: NC_000010.11:88675625:C:T
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88675626C>T, NC_000010.10:g.90435383C>T, NM_004190.4:c.857C>T, NM_004190.3:c.857C>T, NM_001198829.2:c.887C>T, NM_001198829.1:c.887C>T, XM_011540311.2:c.857C>T, XM_011540311.1:c.857C>T, NM_001198830.2:c.788C>T, NM_001198830.1:c.788C>T, NM_001198828.2:c.758C>T, NM_001198828.1:c.758C>T, NP_004181.1:p.Thr286Ile, NP_001185758.1:p.Thr296Ile, XP_011538613.1:p.Thr286Ile, NP_001185759.1:p.Thr263Ile, NP_001185757.1:p.Thr253Ile

Select item 144272017320.

rs1442720173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88669843 (GRCh38)
10:90429600 (GRCh37)
Canonical SPDI:: NC_000010.11:88669842:T:C
Gene:: LIPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88669843T>C, NC_000010.10:g.90429600T>C, NM_004190.4:c.429T>C, NM_004190.3:c.429T>C, NM_001198829.2:c.459T>C, NM_001198829.1:c.459T>C, XM_011540311.2:c.429T>C, XM_011540311.1:c.429T>C, NM_001198830.2:c.360T>C, NM_001198830.1:c.360T>C, NM_001198828.2:c.330T>C, NM_001198828.1:c.330T>C

dbSNP

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