SNP Links for Protein (Select 5032045) - SNP

Links from Protein

Items: 1 to 20 of 162

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Select item 14835642891.

rs1483564289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20781946 (GRCh38)
14:21250105 (GRCh37)
Canonical SPDI:: NC_000014.9:20781945:A:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20781946A>G, NC_000014.8:g.21250105A>G, NM_005615.5:c.247A>G, NM_005615.4:c.247A>G, XM_017021566.2:c.247A>G, XM_017021566.1:c.247A>G, NP_005606.1:p.Ile83Val, XP_016877055.1:p.Ile83Val

Select item 14825194242.

rs1482519424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:20781730 (GRCh38)
14:21249889 (GRCh37)
Canonical SPDI:: NC_000014.9:20781729:C:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.20781730C>G, NC_000014.8:g.21249889C>G, NM_005615.5:c.31C>G, NM_005615.4:c.31C>G, XM_017021566.2:c.31C>G, XM_017021566.1:c.31C>G, NP_005606.1:p.Leu11Val, XP_016877055.1:p.Leu11Val

Select item 14821949873.

rs1482194987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:20782066 (GRCh38)
14:21250225 (GRCh37)
Canonical SPDI:: NC_000014.9:20782065:A:C
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20782066A>C, NC_000014.8:g.21250225A>C, NM_005615.5:c.367A>C, NM_005615.4:c.367A>C, XM_017021566.2:c.367A>C, XM_017021566.1:c.367A>C, NP_005606.1:p.Lys123Gln, XP_016877055.1:p.Lys123Gln

Select item 14661960424.

rs1466196042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20781849 (GRCh38)
14:21250008 (GRCh37)
Canonical SPDI:: NC_000014.9:20781848:G:A
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.20781849G>A, NC_000014.8:g.21250008G>A, NM_005615.5:c.150G>A, NM_005615.4:c.150G>A, XM_017021566.2:c.150G>A, XM_017021566.1:c.150G>A, NP_005606.1:p.Met50Ile, XP_016877055.1:p.Met50Ile

Select item 14537581965.

rs1453758196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:20781903 (GRCh38)
14:21250062 (GRCh37)
Canonical SPDI:: NC_000014.9:20781902:T:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000014.9:g.20781903T>G, NC_000014.8:g.21250062T>G, NM_005615.5:c.204T>G, NM_005615.4:c.204T>G, XM_017021566.2:c.204T>G, XM_017021566.1:c.204T>G, NP_005606.1:p.His68Gln, XP_016877055.1:p.His68Gln

Select item 14513091556.

rs1451309155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20781757 (GRCh38)
14:21249916 (GRCh37)
Canonical SPDI:: NC_000014.9:20781756:C:T
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20781757C>T, NC_000014.8:g.21249916C>T, NM_005615.5:c.58C>T, NM_005615.4:c.58C>T, XM_017021566.2:c.58C>T, XM_017021566.1:c.58C>T, NP_005606.1:p.Pro20Ser, XP_016877055.1:p.Pro20Ser

Select item 14387500967.

rs1438750096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20782119 (GRCh38)
14:21250278 (GRCh37)
Canonical SPDI:: NC_000014.9:20782118:G:A
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20782119G>A, NC_000014.8:g.21250278G>A, NM_005615.5:c.420G>A, NM_005615.4:c.420G>A, XM_017021566.2:c.420G>A, XM_017021566.1:c.420G>A

Select item 14366959678.

rs1436695967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20781926 (GRCh38)
14:21250085 (GRCh37)
Canonical SPDI:: NC_000014.9:20781925:C:T
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000014.9:g.20781926C>T, NC_000014.8:g.21250085C>T, NM_005615.5:c.227C>T, NM_005615.4:c.227C>T, XM_017021566.2:c.227C>T, XM_017021566.1:c.227C>T, NP_005606.1:p.Ala76Val, XP_016877055.1:p.Ala76Val

Select item 14103082669.

rs1410308266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20782094 (GRCh38)
14:21250253 (GRCh37)
Canonical SPDI:: NC_000014.9:20782093:C:G,NC_000014.9:20782093:C:T
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.20782094C>G, NC_000014.9:g.20782094C>T, NC_000014.8:g.21250253C>G, NC_000014.8:g.21250253C>T, NM_005615.5:c.395C>G, NM_005615.5:c.395C>T, NM_005615.4:c.395C>G, NM_005615.4:c.395C>T, XM_017021566.2:c.395C>G, XM_017021566.2:c.395C>T, XM_017021566.1:c.395C>G, XM_017021566.1:c.395C>T, NP_005606.1:p.Pro132Arg, NP_005606.1:p.Pro132Leu, XP_016877055.1:p.Pro132Arg, XP_016877055.1:p.Pro132Leu

Select item 139613139810.

rs1396131398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:20781910 (GRCh38)
14:21250069 (GRCh37)
Canonical SPDI:: NC_000014.9:20781909:T:C,NC_000014.9:20781909:T:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20781910T>C, NC_000014.9:g.20781910T>G, NC_000014.8:g.21250069T>C, NC_000014.8:g.21250069T>G, NM_005615.5:c.211T>C, NM_005615.5:c.211T>G, NM_005615.4:c.211T>C, NM_005615.4:c.211T>G, XM_017021566.2:c.211T>C, XM_017021566.2:c.211T>G, XM_017021566.1:c.211T>C, XM_017021566.1:c.211T>G, NP_005606.1:p.Phe71Leu, NP_005606.1:p.Phe71Val, XP_016877055.1:p.Phe71Leu, XP_016877055.1:p.Phe71Val

Select item 139250905511.

rs1392509055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20781997 (GRCh38)
14:21250156 (GRCh37)
Canonical SPDI:: NC_000014.9:20781996:A:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000014.9:g.20781997A>G, NC_000014.8:g.21250156A>G, NM_005615.5:c.298A>G, NM_005615.4:c.298A>G, XM_017021566.2:c.298A>G, XM_017021566.1:c.298A>G, NP_005606.1:p.Asn100Asp, XP_016877055.1:p.Asn100Asp

Select item 138658489212.

rs1386584892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:20781790 (GRCh38)
14:21249949 (GRCh37)
Canonical SPDI:: NC_000014.9:20781789:G:C
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20781790G>C, NC_000014.8:g.21249949G>C, NM_005615.5:c.91G>C, NM_005615.4:c.91G>C, XM_017021566.2:c.91G>C, XM_017021566.1:c.91G>C, NP_005606.1:p.Ala31Pro, XP_016877055.1:p.Ala31Pro

Select item 138502308913.

rs1385023089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:20781934 (GRCh38)
14:21250093 (GRCh37)
Canonical SPDI:: NC_000014.9:20781933:G:C
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20781934G>C, NC_000014.8:g.21250093G>C, NM_005615.5:c.235G>C, NM_005615.4:c.235G>C, XM_017021566.2:c.235G>C, XM_017021566.1:c.235G>C, NP_005606.1:p.Asp79His, XP_016877055.1:p.Asp79His

Select item 137538728014.

rs1375387280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:20782033 (GRCh38)
14:21250192 (GRCh37)
Canonical SPDI:: NC_000014.9:20782032:C:A
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20782033C>A, NC_000014.8:g.21250192C>A, NM_005615.5:c.334C>A, NM_005615.4:c.334C>A, XM_017021566.2:c.334C>A, XM_017021566.1:c.334C>A, NP_005606.1:p.Pro112Thr, XP_016877055.1:p.Pro112Thr

Select item 136805405215.

rs1368054052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20782045 (GRCh38)
14:21250204 (GRCh37)
Canonical SPDI:: NC_000014.9:20782044:T:C
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20782045T>C, NC_000014.8:g.21250204T>C, NM_005615.5:c.346T>C, NM_005615.4:c.346T>C, XM_017021566.2:c.346T>C, XM_017021566.1:c.346T>C, NP_005606.1:p.Tyr116His, XP_016877055.1:p.Tyr116His

Select item 136517313216.

rs1365173132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:20781906 (GRCh38)
14:21250065 (GRCh37)
Canonical SPDI:: NC_000014.9:20781905:C:A
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20781906C>A, NC_000014.8:g.21250065C>A, NM_005615.5:c.207C>A, NM_005615.4:c.207C>A, XM_017021566.2:c.207C>A, XM_017021566.1:c.207C>A, NP_005606.1:p.Asp69Glu, XP_016877055.1:p.Asp69Glu

Select item 136378400317.

rs1363784003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:20781905 (GRCh38)
14:21250064 (GRCh37)
Canonical SPDI:: NC_000014.9:20781904:A:C
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20781905A>C, NC_000014.8:g.21250064A>C, NM_005615.5:c.206A>C, NM_005615.4:c.206A>C, XM_017021566.2:c.206A>C, XM_017021566.1:c.206A>C, NP_005606.1:p.Asp69Ala, XP_016877055.1:p.Asp69Ala

Select item 135393821718.

rs1353938217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20781833 (GRCh38)
14:21249992 (GRCh37)
Canonical SPDI:: NC_000014.9:20781832:A:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20781833A>G, NC_000014.8:g.21249992A>G, NM_005615.5:c.134A>G, NM_005615.4:c.134A>G, XM_017021566.2:c.134A>G, XM_017021566.1:c.134A>G, NP_005606.1:p.Gln45Arg, XP_016877055.1:p.Gln45Arg

Select item 134235669219.

rs1342356692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20781708 (GRCh38)
14:21249867 (GRCh37)
Canonical SPDI:: NC_000014.9:20781707:A:G
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20781708A>G, NC_000014.8:g.21249867A>G, NM_005615.5:c.9A>G, NM_005615.4:c.9A>G, XM_017021566.2:c.9A>G, XM_017021566.1:c.9A>G

Select item 133095436220.

rs1330954362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTGTCTGTGATTTGCTCAGC [Show Flanks]
Chromosome:: 14:20781924 (GRCh38)
14:21250084 (GRCh37)
Canonical SPDI:: NC_000014.9:20781924:GCTGTCTGTGATTTGCTCAGC:GCTGTCTGTGATTTGCTCAGCGCTGTCTGTGATTTGCTCAGC
Gene:: RNASE6 (Varview), LOC107984671 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by cluster
MAF:: GCTGTCTGTGATTTGCTCAGC=0.000004/1 (GnomAD_exomes)
GCTGTCTGTGATTTGCTCAGC=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20781925_20781945dup, NC_000014.8:g.21250084_21250104dup, NM_005615.5:c.226_246dup, NM_005615.4:c.226_246dup, XM_017021566.2:c.226_246dup, XM_017021566.1:c.226_246dup, NP_005606.1:p.Ala76_Ser82dup, XP_016877055.1:p.Ala76_Ser82dup

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