SNP Links for Protein (Select 767972118) - SNP

Links from Protein

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Select item 14880348131.

rs1488034813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10629547 (GRCh38)
12:10782146 (GRCh37)
Canonical SPDI:: NC_000012.12:10629546:C:A
Gene:: STYK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10629547C>A, NC_000012.11:g.10782146C>A, XM_011520738.3:c.579G>T, XM_011520738.2:c.579G>T, XM_011520738.1:c.579G>T, NM_018423.3:c.579G>T, NM_018423.2:c.579G>T, XM_005253417.3:c.579G>T, XM_005253417.2:c.579G>T, XM_005253417.1:c.579G>T, XM_011520737.2:c.579G>T, XM_011520737.1:c.579G>T, XM_011520736.2:c.579G>T, XM_011520736.1:c.579G>T

Select item 14833554132.

rs1483355413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10629612 (GRCh38)
12:10782211 (GRCh37)
Canonical SPDI:: NC_000012.12:10629611:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10629612C>T, NC_000012.11:g.10782211C>T, XM_011520738.3:c.514G>A, XM_011520738.2:c.514G>A, XM_011520738.1:c.514G>A, NM_018423.3:c.514G>A, NM_018423.2:c.514G>A, XM_005253417.3:c.514G>A, XM_005253417.2:c.514G>A, XM_005253417.1:c.514G>A, XM_011520737.2:c.514G>A, XM_011520737.1:c.514G>A, XM_011520736.2:c.514G>A, XM_011520736.1:c.514G>A, XP_011519040.1:p.Gly172Arg, NP_060893.2:p.Gly172Arg, XP_005253474.1:p.Gly172Arg, XP_011519039.1:p.Gly172Arg, XP_011519038.1:p.Gly172Arg

Select item 14788580993.

rs1478858099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10631211 (GRCh38)
12:10783810 (GRCh37)
Canonical SPDI:: NC_000012.12:10631210:A:G
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10631211A>G, NC_000012.11:g.10783810A>G, XM_011520738.3:c.285T>C, XM_011520738.2:c.285T>C, XM_011520738.1:c.285T>C, NM_018423.3:c.285T>C, NM_018423.2:c.285T>C, XM_005253417.3:c.285T>C, XM_005253417.2:c.285T>C, XM_005253417.1:c.285T>C, XM_011520737.2:c.285T>C, XM_011520737.1:c.285T>C, XM_011520736.2:c.285T>C, XM_011520736.1:c.285T>C, XM_047429099.1:c.285T>C

Select item 14786511884.

rs1478651188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10631065 (GRCh38)
12:10783664 (GRCh37)
Canonical SPDI:: NC_000012.12:10631064:A:G
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10631065A>G, NC_000012.11:g.10783664A>G, XM_011520738.3:c.431T>C, XM_011520738.2:c.431T>C, XM_011520738.1:c.431T>C, NM_018423.3:c.431T>C, NM_018423.2:c.431T>C, XM_005253417.3:c.431T>C, XM_005253417.2:c.431T>C, XM_005253417.1:c.431T>C, XM_011520737.2:c.431T>C, XM_011520737.1:c.431T>C, XM_011520736.2:c.431T>C, XM_011520736.1:c.431T>C, XM_047429099.1:c.431T>C, XP_011519040.1:p.Val144Ala, NP_060893.2:p.Val144Ala, XP_005253474.1:p.Val144Ala, XP_011519039.1:p.Val144Ala, XP_011519038.1:p.Val144Ala, XP_047285055.1:p.Val144Ala

Select item 14769414425.

rs1476941442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:10634050 (GRCh38)
12:10786649 (GRCh37)
Canonical SPDI:: NC_000012.12:10634049:C:A,NC_000012.12:10634049:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10634050C>A, NC_000012.12:g.10634050C>T, NC_000012.11:g.10786649C>A, NC_000012.11:g.10786649C>T, XM_011520738.3:c.127G>T, XM_011520738.3:c.127G>A, XM_011520738.2:c.127G>T, XM_011520738.2:c.127G>A, XM_011520738.1:c.127G>T, XM_011520738.1:c.127G>A, NM_018423.3:c.127G>T, NM_018423.3:c.127G>A, NM_018423.2:c.127G>T, NM_018423.2:c.127G>A, XM_005253417.3:c.127G>T, XM_005253417.3:c.127G>A, XM_005253417.2:c.127G>T, XM_005253417.2:c.127G>A, XM_005253417.1:c.127G>T, XM_005253417.1:c.127G>A, XM_011520737.2:c.127G>T, XM_011520737.2:c.127G>A, XM_011520737.1:c.127G>T, XM_011520737.1:c.127G>A, XM_011520736.2:c.127G>T, XM_011520736.2:c.127G>A, XM_011520736.1:c.127G>T, XM_011520736.1:c.127G>A, XM_047429099.1:c.127G>T, XM_047429099.1:c.127G>A, XP_011519040.1:p.Val43Phe, XP_011519040.1:p.Val43Ile, NP_060893.2:p.Val43Phe, NP_060893.2:p.Val43Ile, XP_005253474.1:p.Val43Phe, XP_005253474.1:p.Val43Ile, XP_011519039.1:p.Val43Phe, XP_011519039.1:p.Val43Ile, XP_011519038.1:p.Val43Phe, XP_011519038.1:p.Val43Ile, XP_047285055.1:p.Val43Phe, XP_047285055.1:p.Val43Ile

Select item 14740420386.

rs1474042038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10629530 (GRCh38)
12:10782129 (GRCh37)
Canonical SPDI:: NC_000012.12:10629529:T:C
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10629530T>C, NC_000012.11:g.10782129T>C, XM_011520738.3:c.596A>G, XM_011520738.2:c.596A>G, XM_011520738.1:c.596A>G, NM_018423.3:c.596A>G, NM_018423.2:c.596A>G, XM_005253417.3:c.596A>G, XM_005253417.2:c.596A>G, XM_005253417.1:c.596A>G, XM_011520737.2:c.596A>G, XM_011520737.1:c.596A>G, XM_011520736.2:c.596A>G, XM_011520736.1:c.596A>G, XP_011519040.1:p.Gln199Arg, NP_060893.2:p.Gln199Arg, XP_005253474.1:p.Gln199Arg, XP_011519039.1:p.Gln199Arg, XP_011519038.1:p.Gln199Arg

Select item 14729519167.

rs1472951916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10634111 (GRCh38)
12:10786710 (GRCh37)
Canonical SPDI:: NC_000012.12:10634110:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.10634111C>T, NC_000012.11:g.10786710C>T, XM_011520738.3:c.66G>A, XM_011520738.2:c.66G>A, XM_011520738.1:c.66G>A, NM_018423.3:c.66G>A, NM_018423.2:c.66G>A, XM_005253417.3:c.66G>A, XM_005253417.2:c.66G>A, XM_005253417.1:c.66G>A, XM_011520737.2:c.66G>A, XM_011520737.1:c.66G>A, XM_011520736.2:c.66G>A, XM_011520736.1:c.66G>A, XM_047429099.1:c.66G>A

Select item 14704058768.

rs1470405876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:10621897 (GRCh38)
12:10774496 (GRCh37)
Canonical SPDI:: NC_000012.12:10621896:G:C
Gene:: STYK1 (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.10621897G>C, NC_000012.11:g.10774496G>C, XM_011520738.3:c.1043C>G, XM_011520738.2:c.1043C>G, XM_011520738.1:c.1043C>G, NM_018423.3:c.1043C>G, NM_018423.2:c.1043C>G, XM_005253417.3:c.1043C>G, XM_005253417.2:c.1043C>G, XM_005253417.1:c.1043C>G, XM_011520737.2:c.1043C>G, XM_011520737.1:c.1043C>G, XM_011520736.2:c.1043C>G, XM_011520736.1:c.1043C>G, XM_047429099.1:c.881C>G, XP_011519040.1:p.Pro348Arg, NP_060893.2:p.Pro348Arg, XP_005253474.1:p.Pro348Arg, XP_011519039.1:p.Pro348Arg, XP_011519038.1:p.Pro348Arg, XP_047285055.1:p.Pro294Arg

Select item 14632904249.

rs1463290424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10629540 (GRCh38)
12:10782139 (GRCh37)
Canonical SPDI:: NC_000012.12:10629539:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10629540C>T, NC_000012.11:g.10782139C>T, XM_011520738.3:c.586G>A, XM_011520738.2:c.586G>A, XM_011520738.1:c.586G>A, NM_018423.3:c.586G>A, NM_018423.2:c.586G>A, XM_005253417.3:c.586G>A, XM_005253417.2:c.586G>A, XM_005253417.1:c.586G>A, XM_011520737.2:c.586G>A, XM_011520737.1:c.586G>A, XM_011520736.2:c.586G>A, XM_011520736.1:c.586G>A, XP_011519040.1:p.Asp196Asn, NP_060893.2:p.Asp196Asn, XP_005253474.1:p.Asp196Asn, XP_011519039.1:p.Asp196Asn, XP_011519038.1:p.Asp196Asn

Select item 146322233110.

rs1463222331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:10629564 (GRCh38)
12:10782163 (GRCh37)
Canonical SPDI:: NC_000012.12:10629563:G:A,NC_000012.12:10629563:G:C
Gene:: STYK1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10629564G>A, NC_000012.12:g.10629564G>C, NC_000012.11:g.10782163G>A, NC_000012.11:g.10782163G>C, XM_011520738.3:c.562C>T, XM_011520738.3:c.562C>G, XM_011520738.2:c.562C>T, XM_011520738.2:c.562C>G, XM_011520738.1:c.562C>T, XM_011520738.1:c.562C>G, NM_018423.3:c.562C>T, NM_018423.3:c.562C>G, NM_018423.2:c.562C>T, NM_018423.2:c.562C>G, XM_005253417.3:c.562C>T, XM_005253417.3:c.562C>G, XM_005253417.2:c.562C>T, XM_005253417.2:c.562C>G, XM_005253417.1:c.562C>T, XM_005253417.1:c.562C>G, XM_011520737.2:c.562C>T, XM_011520737.2:c.562C>G, XM_011520737.1:c.562C>T, XM_011520737.1:c.562C>G, XM_011520736.2:c.562C>T, XM_011520736.2:c.562C>G, XM_011520736.1:c.562C>T, XM_011520736.1:c.562C>G, XP_011519040.1:p.Leu188Val, NP_060893.2:p.Leu188Val, XP_005253474.1:p.Leu188Val, XP_011519039.1:p.Leu188Val, XP_011519038.1:p.Leu188Val

Select item 146202140411.

rs1462021404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:10621969 (GRCh38)
12:10774568 (GRCh37)
Canonical SPDI:: NC_000012.12:10621968:G:A,NC_000012.12:10621968:G:T
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10621969G>A, NC_000012.12:g.10621969G>T, NC_000012.11:g.10774568G>A, NC_000012.11:g.10774568G>T, XM_011520738.3:c.971C>T, XM_011520738.3:c.971C>A, XM_011520738.2:c.971C>T, XM_011520738.2:c.971C>A, XM_011520738.1:c.971C>T, XM_011520738.1:c.971C>A, NM_018423.3:c.971C>T, NM_018423.3:c.971C>A, NM_018423.2:c.971C>T, NM_018423.2:c.971C>A, XM_005253417.3:c.971C>T, XM_005253417.3:c.971C>A, XM_005253417.2:c.971C>T, XM_005253417.2:c.971C>A, XM_005253417.1:c.971C>T, XM_005253417.1:c.971C>A, XM_011520737.2:c.971C>T, XM_011520737.2:c.971C>A, XM_011520737.1:c.971C>T, XM_011520737.1:c.971C>A, XM_011520736.2:c.971C>T, XM_011520736.2:c.971C>A, XM_011520736.1:c.971C>T, XM_011520736.1:c.971C>A, XM_047429099.1:c.809C>T, XM_047429099.1:c.809C>A, XP_011519040.1:p.Ala324Val, XP_011519040.1:p.Ala324Glu, NP_060893.2:p.Ala324Val, NP_060893.2:p.Ala324Glu, XP_005253474.1:p.Ala324Val, XP_005253474.1:p.Ala324Glu, XP_011519039.1:p.Ala324Val, XP_011519039.1:p.Ala324Glu, XP_011519038.1:p.Ala324Val, XP_011519038.1:p.Ala324Glu, XP_047285055.1:p.Ala270Val, XP_047285055.1:p.Ala270Glu

Select item 146036686012.

rs1460366860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10631297 (GRCh38)
12:10783896 (GRCh37)
Canonical SPDI:: NC_000012.12:10631296:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10631297C>T, NC_000012.11:g.10783896C>T, XM_011520738.3:c.199G>A, XM_011520738.2:c.199G>A, XM_011520738.1:c.199G>A, NM_018423.3:c.199G>A, NM_018423.2:c.199G>A, XM_005253417.3:c.199G>A, XM_005253417.2:c.199G>A, XM_005253417.1:c.199G>A, XM_011520737.2:c.199G>A, XM_011520737.1:c.199G>A, XM_011520736.2:c.199G>A, XM_011520736.1:c.199G>A, XM_047429099.1:c.199G>A, XP_011519040.1:p.Val67Ile, NP_060893.2:p.Val67Ile, XP_005253474.1:p.Val67Ile, XP_011519039.1:p.Val67Ile, XP_011519038.1:p.Val67Ile, XP_047285055.1:p.Val67Ile

Select item 145806381113.

rs1458063811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10631201 (GRCh38)
12:10783800 (GRCh37)
Canonical SPDI:: NC_000012.12:10631200:T:C
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10631201T>C, NC_000012.11:g.10783800T>C, XM_011520738.3:c.295A>G, XM_011520738.2:c.295A>G, XM_011520738.1:c.295A>G, NM_018423.3:c.295A>G, NM_018423.2:c.295A>G, XM_005253417.3:c.295A>G, XM_005253417.2:c.295A>G, XM_005253417.1:c.295A>G, XM_011520737.2:c.295A>G, XM_011520737.1:c.295A>G, XM_011520736.2:c.295A>G, XM_011520736.1:c.295A>G, XM_047429099.1:c.295A>G, XP_011519040.1:p.Thr99Ala, NP_060893.2:p.Thr99Ala, XP_005253474.1:p.Thr99Ala, XP_011519039.1:p.Thr99Ala, XP_011519038.1:p.Thr99Ala, XP_047285055.1:p.Thr99Ala

Select item 145376783714.

rs1453767837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:10620294 (GRCh38)
12:10772893 (GRCh37)
Canonical SPDI:: NC_000012.12:10620293:A:C
Gene:: STYK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10620294A>C, NC_000012.11:g.10772893A>C, XM_011520738.3:c.1119T>G, XM_011520738.2:c.1119T>G, XM_011520738.1:c.1119T>G, NM_018423.3:c.1119T>G, NM_018423.2:c.1119T>G, XM_005253417.3:c.1119T>G, XM_005253417.2:c.1119T>G, XM_005253417.1:c.1119T>G, XM_011520737.2:c.1119T>G, XM_011520737.1:c.1119T>G, XM_011520736.2:c.1119T>G, XM_011520736.1:c.1119T>G, XM_047429099.1:c.957T>G

Select item 145254394315.

rs1452543943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10631113 (GRCh38)
12:10783712 (GRCh37)
Canonical SPDI:: NC_000012.12:10631112:A:G
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10631113A>G, NC_000012.11:g.10783712A>G, XM_011520738.3:c.383T>C, XM_011520738.2:c.383T>C, XM_011520738.1:c.383T>C, NM_018423.3:c.383T>C, NM_018423.2:c.383T>C, XM_005253417.3:c.383T>C, XM_005253417.2:c.383T>C, XM_005253417.1:c.383T>C, XM_011520737.2:c.383T>C, XM_011520737.1:c.383T>C, XM_011520736.2:c.383T>C, XM_011520736.1:c.383T>C, XM_047429099.1:c.383T>C, XP_011519040.1:p.Ile128Thr, NP_060893.2:p.Ile128Thr, XP_005253474.1:p.Ile128Thr, XP_011519039.1:p.Ile128Thr, XP_011519038.1:p.Ile128Thr, XP_047285055.1:p.Ile128Thr

Select item 145231436316.

rs1452314363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10620308 (GRCh38)
12:10772907 (GRCh37)
Canonical SPDI:: NC_000012.12:10620307:C:T
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10620308C>T, NC_000012.11:g.10772907C>T, XM_011520738.3:c.1105G>A, XM_011520738.2:c.1105G>A, XM_011520738.1:c.1105G>A, NM_018423.3:c.1105G>A, NM_018423.2:c.1105G>A, XM_005253417.3:c.1105G>A, XM_005253417.2:c.1105G>A, XM_005253417.1:c.1105G>A, XM_011520737.2:c.1105G>A, XM_011520737.1:c.1105G>A, XM_011520736.2:c.1105G>A, XM_011520736.1:c.1105G>A, XM_047429099.1:c.943G>A, XP_011519040.1:p.Asp369Asn, NP_060893.2:p.Asp369Asn, XP_005253474.1:p.Asp369Asn, XP_011519039.1:p.Asp369Asn, XP_011519038.1:p.Asp369Asn, XP_047285055.1:p.Asp315Asn

Select item 145072232317.

rs1450722323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10622664 (GRCh38)
12:10775263 (GRCh37)
Canonical SPDI:: NC_000012.12:10622663:A:G
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.10622664A>G, NC_000012.11:g.10775263A>G, XM_011520738.3:c.941T>C, XM_011520738.2:c.941T>C, XM_011520738.1:c.941T>C, NM_018423.3:c.941T>C, NM_018423.2:c.941T>C, XM_005253417.3:c.941T>C, XM_005253417.2:c.941T>C, XM_005253417.1:c.941T>C, XM_011520737.2:c.941T>C, XM_011520737.1:c.941T>C, XM_011520736.2:c.941T>C, XM_011520736.1:c.941T>C, XM_047429099.1:c.779T>C, XP_011519040.1:p.Ile314Thr, NP_060893.2:p.Ile314Thr, XP_005253474.1:p.Ile314Thr, XP_011519039.1:p.Ile314Thr, XP_011519038.1:p.Ile314Thr, XP_047285055.1:p.Ile260Thr

Select item 144733040418.

rs1447330404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10621967 (GRCh38)
12:10774566 (GRCh37)
Canonical SPDI:: NC_000012.12:10621966:G:A
Gene:: STYK1 (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)
HGVS:: NC_000012.12:g.10621967G>A, NC_000012.11:g.10774566G>A, XM_011520738.3:c.973C>T, XM_011520738.2:c.973C>T, XM_011520738.1:c.973C>T, NM_018423.3:c.973C>T, NM_018423.2:c.973C>T, XM_005253417.3:c.973C>T, XM_005253417.2:c.973C>T, XM_005253417.1:c.973C>T, XM_011520737.2:c.973C>T, XM_011520737.1:c.973C>T, XM_011520736.2:c.973C>T, XM_011520736.1:c.973C>T, XM_047429099.1:c.811C>T, XP_011519040.1:p.Pro325Ser, NP_060893.2:p.Pro325Ser, XP_005253474.1:p.Pro325Ser, XP_011519039.1:p.Pro325Ser, XP_011519038.1:p.Pro325Ser, XP_047285055.1:p.Pro271Ser

Select item 144278806319.

rs1442788063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10629623 (GRCh38)
12:10782222 (GRCh37)
Canonical SPDI:: NC_000012.12:10629622:T:C
Gene:: STYK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.10629623T>C, NC_000012.11:g.10782222T>C, XM_011520738.3:c.503A>G, XM_011520738.2:c.503A>G, XM_011520738.1:c.503A>G, NM_018423.3:c.503A>G, NM_018423.2:c.503A>G, XM_005253417.3:c.503A>G, XM_005253417.2:c.503A>G, XM_005253417.1:c.503A>G, XM_011520737.2:c.503A>G, XM_011520737.1:c.503A>G, XM_011520736.2:c.503A>G, XM_011520736.1:c.503A>G, XP_011519040.1:p.His168Arg, NP_060893.2:p.His168Arg, XP_005253474.1:p.His168Arg, XP_011519039.1:p.His168Arg, XP_011519038.1:p.His168Arg

Select item 144078926420.

rs1440789264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10624737 (GRCh38)
12:10777336 (GRCh37)
Canonical SPDI:: NC_000012.12:10624736:C:A
Gene:: STYK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10624737C>A, NC_000012.11:g.10777336C>A, XM_011520738.3:c.840G>T, XM_011520738.2:c.840G>T, XM_011520738.1:c.840G>T, NM_018423.3:c.840G>T, NM_018423.2:c.840G>T, XM_005253417.3:c.840G>T, XM_005253417.2:c.840G>T, XM_005253417.1:c.840G>T, XM_011520737.2:c.840G>T, XM_011520737.1:c.840G>T, XM_011520736.2:c.840G>T, XM_011520736.1:c.840G>T, XM_047429099.1:c.678G>T

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