SNP Links for Protein (Select 4759068) - SNP

Links from Protein

Items: 1 to 20 of 350

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Select item 14909746441.

rs1490974644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:10692950 (GRCh38)
17:10596267 (GRCh37)
Canonical SPDI:: NC_000017.11:10692949:C:G
Gene:: SCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.10692950C>G, NC_000017.10:g.10596267C>G, NG_008228.2:g.9619G>C, NM_004589.3:c.376G>C, NM_004589.4:c.376G>C, NM_004589.2:c.376G>C, NP_004580.1:p.Glu126Gln

Select item 14901262732.

rs1490126273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:10691939 (GRCh38)
17:10595256 (GRCh37)
Canonical SPDI:: NC_000017.11:10691938:T:C
Gene:: SCO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10691939T>C, NC_000017.10:g.10595256T>C, NG_008228.2:g.10630A>G, NM_004589.3:c.588A>G, NM_004589.4:c.588A>G, NM_004589.2:c.588A>G

Select item 14864315643.

rs1486431564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:10697252 (GRCh38)
17:10600569 (GRCh37)
Canonical SPDI:: NC_000017.11:10697251:G:T
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.10697252G>T, NC_000017.10:g.10600569G>T, NG_008228.2:g.5317C>A, NM_004589.3:c.256C>A, NM_004589.4:c.256C>A, NM_004589.2:c.256C>A, NP_004580.1:p.Arg86Ser

Select item 14850425504.

rs1485042550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:10697334 (GRCh38)
17:10600651 (GRCh37)
Canonical SPDI:: NC_000017.11:10697333:A:G
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10697334A>G, NC_000017.10:g.10600651A>G, NG_008228.2:g.5235T>C, NM_004589.3:c.174T>C, NM_004589.4:c.174T>C, NM_004589.2:c.174T>C

Select item 14838880175.

rs1483888017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:10697397 (GRCh38)
17:10600714 (GRCh37)
Canonical SPDI:: NC_000017.11:10697396:C:G
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.001027/3 (KOREAN)
HGVS:: NC_000017.11:g.10697397C>G, NC_000017.10:g.10600714C>G, NG_008228.2:g.5172G>C, NM_004589.3:c.111G>C, NM_004589.4:c.111G>C, NM_004589.2:c.111G>C, NG_056885.1:g.46C>G

Select item 14806514876.

rs1480651487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:10691932 (GRCh38)
17:10595249 (GRCh37)
Canonical SPDI:: NC_000017.11:10691931:G:A,NC_000017.11:10691931:G:C
Gene:: SCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10691932G>A, NC_000017.11:g.10691932G>C, NC_000017.10:g.10595249G>A, NC_000017.10:g.10595249G>C, NG_008228.2:g.10637C>T, NG_008228.2:g.10637C>G, NM_004589.3:c.595C>T, NM_004589.3:c.595C>G, NM_004589.4:c.595C>T, NM_004589.4:c.595C>G, NM_004589.2:c.595C>T, NM_004589.2:c.595C>G, NP_004580.1:p.Leu199Phe, NP_004580.1:p.Leu199Val

Select item 14805895267.

rs1480589526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:10697452 (GRCh38)
17:10600769 (GRCh37)
Canonical SPDI:: NC_000017.11:10697451:A:G
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10697452A>G, NC_000017.10:g.10600769A>G, NG_008228.2:g.5117T>C, NM_004589.3:c.56T>C, NM_004589.4:c.56T>C, NM_004589.2:c.56T>C, NG_056885.1:g.101A>G, NP_004580.1:p.Leu19Pro

Select item 14802549738.

rs1480254973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10697238 (GRCh38)
17:10600555 (GRCh37)
Canonical SPDI:: NC_000017.11:10697237:G:A
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.10697238G>A, NC_000017.10:g.10600555G>A, NG_008228.2:g.5331C>T, NM_004589.3:c.270C>T, NM_004589.4:c.270C>T, NM_004589.2:c.270C>T

Select item 14797350249.

rs1479735024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:10695783 (GRCh38)
17:10599100 (GRCh37)
Canonical SPDI:: NC_000017.11:10695782:A:T
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
T=0.00164/3 (Korea1K)
HGVS:: NC_000017.11:g.10695783A>T, NC_000017.10:g.10599100A>T, NG_008228.2:g.6786T>A, NM_004589.3:c.322T>A, NM_004589.4:c.322T>A, NM_004589.2:c.322T>A, NP_004580.1:p.Leu108Ile

Select item 147972977310.

rs1479729773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:10697326 (GRCh38)
17:10600643 (GRCh37)
Canonical SPDI:: NC_000017.11:10697325:C:A,NC_000017.11:10697325:C:T
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10697326C>A, NC_000017.11:g.10697326C>T, NC_000017.10:g.10600643C>A, NC_000017.10:g.10600643C>T, NG_008228.2:g.5243G>T, NG_008228.2:g.5243G>A, NM_004589.3:c.182G>T, NM_004589.3:c.182G>A, NM_004589.4:c.182G>T, NM_004589.4:c.182G>A, NM_004589.2:c.182G>T, NM_004589.2:c.182G>A, NP_004580.1:p.Cys61Phe, NP_004580.1:p.Cys61Tyr

Select item 147729570011.

rs1477295700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:10681251 (GRCh38)
17:10584568 (GRCh37)
Canonical SPDI:: NC_000017.11:10681250:C:T
Gene:: SCO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10681251C>T, NC_000017.10:g.10584568C>T, NG_008228.2:g.21318G>A, NM_004589.3:c.774G>A, NM_004589.4:c.774G>A, NM_004589.2:c.774G>A

Select item 147152230812.

rs1471522308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:10686793 (GRCh38)
17:10590110 (GRCh37)
Canonical SPDI:: NC_000017.11:10686792:A:G
Gene:: SCO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10686793A>G, NC_000017.10:g.10590110A>G, NG_008228.2:g.15776T>C, NM_004589.3:c.705T>C, NM_004589.4:c.705T>C, NM_004589.2:c.705T>C

Select item 146995674513.

rs1469956745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10681190 (GRCh38)
17:10584507 (GRCh37)
Canonical SPDI:: NC_000017.11:10681189:G:A
Gene:: SCO1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.10681190G>A, NC_000017.10:g.10584507G>A, NG_008228.2:g.21379C>T, NM_004589.3:c.835C>T, NM_004589.4:c.835C>T, NM_004589.2:c.835C>T, NP_004580.1:p.Gln279Ter

Select item 146642293714.

rs1466422937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:10697387 (GRCh38)
17:10600704 (GRCh37)
Canonical SPDI:: NC_000017.11:10697386:G:C
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10697387G>C, NC_000017.10:g.10600704G>C, NG_008228.2:g.5182C>G, NM_004589.3:c.121C>G, NM_004589.4:c.121C>G, NM_004589.2:c.121C>G, NG_056885.1:g.36G>C, NP_004580.1:p.Leu41Val

Select item 146596963515.

rs1465969635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:10697495 (GRCh38)
17:10600812 (GRCh37)
Canonical SPDI:: NC_000017.11:10697494:C:T
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.10697495C>T, NC_000017.10:g.10600812C>T, NG_008228.2:g.5074G>A, NM_004589.3:c.13G>A, NM_004589.4:c.13G>A, NM_004589.2:c.13G>A, NG_056885.1:g.144C>T, NP_004580.1:p.Val5Ile

Select item 146425730616.

rs1464257306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10691886 (GRCh38)
17:10595203 (GRCh37)
Canonical SPDI:: NC_000017.11:10691885:G:A
Gene:: SCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10691886G>A, NC_000017.10:g.10595203G>A, NG_008228.2:g.10683C>T, NM_004589.3:c.641C>T, NM_004589.4:c.641C>T, NM_004589.2:c.641C>T, NP_004580.1:p.Ala214Val

Select item 146354329417.

rs1463543294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:10691952 (GRCh38)
17:10595269 (GRCh37)
Canonical SPDI:: NC_000017.11:10691951:G:A
Gene:: SCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10691952G>A, NC_000017.10:g.10595269G>A, NG_008228.2:g.10617C>T, NM_004589.3:c.575C>T, NM_004589.4:c.575C>T, NM_004589.2:c.575C>T, NP_004580.1:p.Thr192Ile

Select item 146290053318.

rs1462900533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:10697388 (GRCh38)
17:10600705 (GRCh37)
Canonical SPDI:: NC_000017.11:10697387:C:A,NC_000017.11:10697387:C:G
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.10697388C>A, NC_000017.11:g.10697388C>G, NC_000017.10:g.10600705C>A, NC_000017.10:g.10600705C>G, NG_008228.2:g.5181G>T, NG_008228.2:g.5181G>C, NM_004589.3:c.120G>T, NM_004589.3:c.120G>C, NM_004589.4:c.120G>T, NM_004589.4:c.120G>C, NM_004589.2:c.120G>T, NM_004589.2:c.120G>C, NG_056885.1:g.37C>A, NG_056885.1:g.37C>G, NP_004580.1:p.Leu40Phe, NP_004580.1:p.Leu40Phe

Select item 146183103419.

rs1461831034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:10692857 (GRCh38)
17:10596174 (GRCh37)
Canonical SPDI:: NC_000017.11:10692856:C:A
Gene:: SCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.10692857C>A, NC_000017.10:g.10596174C>A, NG_008228.2:g.9712G>T, NM_004589.3:c.469G>T, NM_004589.4:c.469G>T, NM_004589.2:c.469G>T, NP_004580.1:p.Gly157Cys

Select item 146112317420.

rs1461123174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:10697472 (GRCh38)
17:10600789 (GRCh37)
Canonical SPDI:: NC_000017.11:10697471:C:G,NC_000017.11:10697471:C:T
Gene:: SCO1 (Varview), ADPRM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.10697472C>G, NC_000017.11:g.10697472C>T, NC_000017.10:g.10600789C>G, NC_000017.10:g.10600789C>T, NG_008228.2:g.5097G>C, NG_008228.2:g.5097G>A, NM_004589.3:c.36G>C, NM_004589.3:c.36G>A, NM_004589.4:c.36G>C, NM_004589.4:c.36G>A, NM_004589.2:c.36G>C, NM_004589.2:c.36G>A, NG_056885.1:g.121C>G, NG_056885.1:g.121C>T, NP_004580.1:p.Met12Ile, NP_004580.1:p.Met12Ile

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