SNP Links for Protein (Select 5901992) - SNP

Links from Protein

Items: 1 to 20 of 374

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Select item 14884584761.

rs1488458476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91056013 (GRCh38)
12:91449790 (GRCh37)
Canonical SPDI:: NC_000012.12:91056012:G:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91056013G>A, NC_000012.11:g.91449790G>A, NG_021223.1:g.7342C>T, NM_007035.3:c.269C>T, NM_007035.4:c.269C>T, NP_008966.1:p.Pro90Leu

Select item 14870962202.

rs1487096220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91056238 (GRCh38)
12:91450015 (GRCh37)
Canonical SPDI:: NC_000012.12:91056237:G:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.91056238G>A, NC_000012.11:g.91450015G>A, NG_021223.1:g.7117C>T, NM_007035.3:c.44C>T, NM_007035.4:c.44C>T, NP_008966.1:p.Thr15Ile

Select item 14688915583.

rs1468891558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:91055591 (GRCh38)
12:91449368 (GRCh37)
Canonical SPDI:: NC_000012.12:91055590:T:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91055591T>A, NC_000012.11:g.91449368T>A, NG_021223.1:g.7764A>T, NM_007035.3:c.691A>T, NM_007035.4:c.691A>T, NP_008966.1:p.Asn231Tyr

Select item 14678792104.

rs1467879210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:91055972 (GRCh38)
12:91449749 (GRCh37)
Canonical SPDI:: NC_000012.12:91055971:T:A
Gene:: KERA (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_000012.12:g.91055972T>A, NC_000012.11:g.91449749T>A, NG_021223.1:g.7383A>T, NM_007035.3:c.310A>T, NM_007035.4:c.310A>T, NP_008966.1:p.Lys104Ter

Select item 14668122955.

rs1466812295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:91051490 (GRCh38)
12:91445267 (GRCh37)
Canonical SPDI:: NC_000012.12:91051489:G:T
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91051490G>T, NC_000012.11:g.91445267G>T, NG_021223.1:g.11865C>A, NM_007035.3:c.915C>A, NM_007035.4:c.915C>A, NP_008966.1:p.Ser305Arg

Select item 14659150066.

rs1465915006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:91055882 (GRCh38)
12:91449659 (GRCh37)
Canonical SPDI:: NC_000012.12:91055881:C:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055882C>A, NC_000012.11:g.91449659C>A, NG_021223.1:g.7473G>T, NM_007035.3:c.400G>T, NM_007035.4:c.400G>T, NP_008966.1:p.Glu134Ter

Select item 14637052277.

rs1463705227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:91051461 (GRCh38)
12:91445238 (GRCh37)
Canonical SPDI:: NC_000012.12:91051460:G:T
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.91051461G>T, NC_000012.11:g.91445238G>T, NG_021223.1:g.11894C>A, NM_007035.3:c.944C>A, NM_007035.4:c.944C>A, NP_008966.1:p.Ser315Tyr

Select item 14541972468.

rs1454197246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:91056204 (GRCh38)
12:91449981 (GRCh37)
Canonical SPDI:: NC_000012.12:91056203:G:T
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91056204G>T, NC_000012.11:g.91449981G>T, NG_021223.1:g.7151C>A, NM_007035.3:c.78C>A, NM_007035.4:c.78C>A

Select item 14541717619.

rs1454171761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:91055816 (GRCh38)
12:91449593 (GRCh37)
Canonical SPDI:: NC_000012.12:91055815:T:G
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055816T>G, NC_000012.11:g.91449593T>G, NG_021223.1:g.7539A>C, NM_007035.3:c.466A>C, NM_007035.4:c.466A>C

Select item 145107043310.

rs1451070433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:91055961 (GRCh38)
12:91449738 (GRCh37)
Canonical SPDI:: NC_000012.12:91055960:T:C,NC_000012.12:91055960:T:G
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055961T>C, NC_000012.12:g.91055961T>G, NC_000012.11:g.91449738T>C, NC_000012.11:g.91449738T>G, NG_021223.1:g.7394A>G, NG_021223.1:g.7394A>C, NM_007035.3:c.321A>G, NM_007035.3:c.321A>C, NM_007035.4:c.321A>G, NM_007035.4:c.321A>C, NP_008966.1:p.Ile107Met

Select item 144658842711.

rs1446588427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:91055781 (GRCh38)
12:91449558 (GRCh37)
Canonical SPDI:: NC_000012.12:91055780:G:A,NC_000012.12:91055780:G:T
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055781G>A, NC_000012.12:g.91055781G>T, NC_000012.11:g.91449558G>A, NC_000012.11:g.91449558G>T, NG_021223.1:g.7574C>T, NG_021223.1:g.7574C>A, NM_007035.3:c.501C>T, NM_007035.3:c.501C>A, NM_007035.4:c.501C>T, NM_007035.4:c.501C>A, NP_008966.1:p.Asn167Lys

Select item 144620314312.

rs1446203143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:91056076 (GRCh38)
12:91449853 (GRCh37)
Canonical SPDI:: NC_000012.12:91056075:A:C
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.91056076A>C, NC_000012.11:g.91449853A>C, NG_021223.1:g.7279T>G, NM_007035.3:c.206T>G, NM_007035.4:c.206T>G, NP_008966.1:p.Ile69Ser

Select item 144465828213.

rs1444658282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:91056109 (GRCh38)
12:91449886 (GRCh37)
Canonical SPDI:: NC_000012.12:91056108:C:T
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91056109C>T, NC_000012.11:g.91449886C>T, NG_021223.1:g.7246G>A, NM_007035.3:c.173G>A, NM_007035.4:c.173G>A, NP_008966.1:p.Cys58Tyr

Select item 144464340814.

rs1444643408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:91055458 (GRCh38)
12:91449235 (GRCh37)
Canonical SPDI:: NC_000012.12:91055457:G:C
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055458G>C, NC_000012.11:g.91449235G>C, NG_021223.1:g.7897C>G, NM_007035.3:c.824C>G, NM_007035.4:c.824C>G, NP_008966.1:p.Thr275Arg

Select item 144355581915.

rs1443555819 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 12:91056098 (GRCh38)
12:91449875 (GRCh37)
Canonical SPDI:: NC_000012.12:91056097:CTCT:
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.91056098_91056101del, NC_000012.11:g.91449875_91449878del, NG_021223.1:g.7254_7257del, NM_007035.3:c.181_184del, NM_007035.4:c.181_184del, NP_008966.1:p.Arg61fs

Select item 144182024116.

rs1441820241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91055656 (GRCh38)
12:91449433 (GRCh37)
Canonical SPDI:: NC_000012.12:91055655:G:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91055656G>A, NC_000012.11:g.91449433G>A, NG_021223.1:g.7699C>T, NM_007035.3:c.626C>T, NM_007035.4:c.626C>T, NP_008966.1:p.Pro209Leu

Select item 143963731917.

rs1439637319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91055887 (GRCh38)
12:91449664 (GRCh37)
Canonical SPDI:: NC_000012.12:91055886:T:C
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.91055887T>C, NC_000012.11:g.91449664T>C, NG_021223.1:g.7468A>G, NM_007035.3:c.395A>G, NM_007035.4:c.395A>G, NP_008966.1:p.Glu132Gly

Select item 143862308018.

rs1438623080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:91056118 (GRCh38)
12:91449895 (GRCh37)
Canonical SPDI:: NC_000012.12:91056117:G:C
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.91056118G>C, NC_000012.11:g.91449895G>C, NG_021223.1:g.7237C>G, NM_007035.3:c.164C>G, NM_007035.4:c.164C>G, NP_008966.1:p.Ala55Gly

Select item 143240103719.

rs1432401037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:91051496 (GRCh38)
12:91445273 (GRCh37)
Canonical SPDI:: NC_000012.12:91051495:A:G
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91051496A>G, NC_000012.11:g.91445273A>G, NG_021223.1:g.11859T>C, NM_007035.3:c.909T>C, NM_007035.4:c.909T>C

Select item 143206402320.

rs1432064023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:91056266 (GRCh38)
12:91450043 (GRCh37)
Canonical SPDI:: NC_000012.12:91056265:A:G
Gene:: KERA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91056266A>G, NC_000012.11:g.91450043A>G, NG_021223.1:g.7089T>C, NM_007035.3:c.16T>C, NM_007035.4:c.16T>C, NP_008966.1:p.Cys6Arg

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