SNP Links for Protein (Select 4507879) - SNP

Links from Protein

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Select item 14873878411.

rs1487387841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:133991068 (GRCh38)
5:133326759 (GRCh37)
Canonical SPDI:: NC_000005.10:133991067:G:A
Gene:: VDAC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133991068G>A, NC_000005.9:g.133326759G>A, NG_027817.2:g.19066C>T, NM_003374.3:c.204C>T, NM_003374.2:c.204C>T, NR_036625.2:n.332C>T, NR_036624.2:n.329C>T, NM_001401008.1:c.204C>T, NM_001401012.1:c.204C>T, NM_001401011.1:c.204C>T, NM_001401010.1:c.204C>T, NM_001401009.1:c.204C>T, NR_036625.1:n.530C>T, NR_036624.1:n.527C>T, NM_001401016.1:c.204C>T, NM_001401017.1:c.204C>T, NM_001401028.1:c.204C>T, NM_001401032.1:c.-270C>T, NM_001401031.1:c.-170C>T, NM_001401021.1:c.204C>T, NM_001401018.1:c.204C>T, NM_001401020.1:c.204C>T, NM_001401026.1:c.135C>T, NM_001401029.1:c.-128C>T, NM_001401023.1:c.204C>T, NM_001401022.1:c.204C>T, NM_001401027.1:c.204C>T, NM_001401025.1:c.204C>T, NM_001401024.1:c.204C>T

Select item 14805447382.

rs1480544738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:133980772 (GRCh38)
5:133316463 (GRCh37)
Canonical SPDI:: NC_000005.10:133980771:C:A
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.133980772C>A, NC_000005.9:g.133316463C>A, NG_027817.2:g.29362G>T, NM_003374.3:c.508G>T, NM_003374.2:c.508G>T, NR_036625.2:n.636G>T, NR_036624.2:n.633G>T, NM_001401008.1:c.508G>T, NM_001401012.1:c.508G>T, NM_001401011.1:c.508G>T, NM_001401010.1:c.508G>T, NM_001401009.1:c.508G>T, NR_036625.1:n.834G>T, NR_036624.1:n.831G>T, NM_001401016.1:c.508G>T, NM_001401017.1:c.508G>T, NM_001401028.1:c.550G>T, NM_001401032.1:c.124G>T, NM_001401031.1:c.124G>T, NM_001401021.1:c.508G>T, NM_001401018.1:c.508G>T, NM_001401020.1:c.508G>T, NM_001401026.1:c.439G>T, NM_001401029.1:c.124G>T, NM_001401023.1:c.508G>T, NM_001401022.1:c.508G>T, NM_001401025.1:c.508G>T, NP_003365.1:p.Ala170Ser, NP_001387937.1:p.Ala170Ser, NP_001387940.1:p.Ala170Ser, NP_001387939.1:p.Ala170Ser, NP_001387938.1:p.Ala170Ser, NP_001387945.1:p.Ala170Ser, NP_001387946.1:p.Ala170Ser, NP_001387957.1:p.Ala184Ser, NP_001387961.1:p.Ala42Ser, NP_001387960.1:p.Ala42Ser, NP_001387950.1:p.Ala170Ser, NP_001387947.1:p.Ala170Ser, NP_001387949.1:p.Ala170Ser, NP_001387955.1:p.Ala147Ser, NP_001387958.1:p.Ala42Ser, NP_001387952.1:p.Ala170Ser, NP_001387951.1:p.Ala170Ser, NP_001387954.1:p.Ala170Ser

Select item 14778712583.

rs1477871258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:133991004 (GRCh38)
5:133326695 (GRCh37)
Canonical SPDI:: NC_000005.10:133991003:G:T
Gene:: VDAC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133991004G>T, NC_000005.9:g.133326695G>T, NG_027817.2:g.19130C>A, NM_003374.3:c.268C>A, NM_003374.2:c.268C>A, NR_036625.2:n.396C>A, NR_036624.2:n.393C>A, NM_001401008.1:c.268C>A, NM_001401012.1:c.268C>A, NM_001401011.1:c.268C>A, NM_001401010.1:c.268C>A, NM_001401009.1:c.268C>A, NR_036625.1:n.594C>A, NR_036624.1:n.591C>A, NM_001401016.1:c.268C>A, NM_001401017.1:c.268C>A, NM_001401028.1:c.268C>A, NM_001401032.1:c.-206C>A, NM_001401031.1:c.-106C>A, NM_001401021.1:c.268C>A, NM_001401018.1:c.268C>A, NM_001401020.1:c.268C>A, NM_001401026.1:c.199C>A, NM_001401029.1:c.-64C>A, NM_001401023.1:c.268C>A, NM_001401022.1:c.268C>A, NM_001401027.1:c.268C>A, NM_001401025.1:c.268C>A, NM_001401024.1:c.268C>A, NP_003365.1:p.Gln90Lys, NP_001387937.1:p.Gln90Lys, NP_001387940.1:p.Gln90Lys, NP_001387939.1:p.Gln90Lys, NP_001387938.1:p.Gln90Lys, NP_001387945.1:p.Gln90Lys, NP_001387946.1:p.Gln90Lys, NP_001387957.1:p.Gln90Lys, NP_001387950.1:p.Gln90Lys, NP_001387947.1:p.Gln90Lys, NP_001387949.1:p.Gln90Lys, NP_001387955.1:p.Gln67Lys, NP_001387952.1:p.Gln90Lys, NP_001387951.1:p.Gln90Lys, NP_001387956.1:p.Gln90Lys, NP_001387954.1:p.Gln90Lys, NP_001387953.1:p.Gln90Lys

Select item 14663274384.

rs1466327438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:133973845 (GRCh38)
5:133309536 (GRCh37)
Canonical SPDI:: NC_000005.10:133973844:T:C
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.133973845T>C, NC_000005.9:g.133309536T>C, NG_027817.2:g.36289A>G, NM_003374.3:c.706A>G, NM_003374.2:c.706A>G, NR_036625.2:n.834A>G, NR_036624.2:n.831A>G, NM_001401008.1:c.706A>G, NM_001401012.1:c.706A>G, NM_001401011.1:c.706A>G, NM_001401010.1:c.706A>G, NM_001401009.1:c.706A>G, NR_036625.1:n.1032A>G, NR_036624.1:n.1029A>G, NM_001401016.1:c.706A>G, NM_001401017.1:c.706A>G, NM_001401028.1:c.748A>G, NM_001401032.1:c.322A>G, NM_001401031.1:c.322A>G, NM_001401021.1:c.706A>G, NM_001401018.1:c.706A>G, NM_001401020.1:c.706A>G, NM_001401026.1:c.637A>G, NM_001401029.1:c.322A>G, NM_001401023.1:c.706A>G, NM_001401022.1:c.706A>G, NM_001401025.1:c.553A>G, NM_001401024.1:c.478A>G, NP_003365.1:p.Lys236Glu, NP_001387937.1:p.Lys236Glu, NP_001387940.1:p.Lys236Glu, NP_001387939.1:p.Lys236Glu, NP_001387938.1:p.Lys236Glu, NP_001387945.1:p.Lys236Glu, NP_001387946.1:p.Lys236Glu, NP_001387957.1:p.Lys250Glu, NP_001387961.1:p.Lys108Glu, NP_001387960.1:p.Lys108Glu, NP_001387950.1:p.Lys236Glu, NP_001387947.1:p.Lys236Glu, NP_001387949.1:p.Lys236Glu, NP_001387955.1:p.Lys213Glu, NP_001387958.1:p.Lys108Glu, NP_001387952.1:p.Lys236Glu, NP_001387951.1:p.Lys236Glu, NP_001387954.1:p.Lys185Glu, NP_001387953.1:p.Lys160Glu

Select item 14638971195.

rs1463897119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:133992348 (GRCh38)
5:133328039 (GRCh37)
Canonical SPDI:: NC_000005.10:133992347:G:C
Gene:: VDAC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.133992348G>C, NC_000005.9:g.133328039G>C, NG_027817.2:g.17786C>G, NM_003374.3:c.75C>G, NM_003374.2:c.75C>G, NR_036625.2:n.203C>G, NR_036624.2:n.200C>G, NM_001401008.1:c.75C>G, NM_001401012.1:c.75C>G, NM_001401011.1:c.75C>G, NM_001401010.1:c.75C>G, NM_001401009.1:c.75C>G, NR_036625.1:n.401C>G, NR_036624.1:n.398C>G, NM_001401016.1:c.75C>G, NM_001401017.1:c.75C>G, NM_001401028.1:c.75C>G, NM_001401031.1:c.-299C>G, NM_001401021.1:c.75C>G, NM_001401018.1:c.75C>G, NM_001401020.1:c.75C>G, NM_001401029.1:c.-257C>G, NM_001401023.1:c.75C>G, NM_001401022.1:c.75C>G, NM_001401027.1:c.75C>G, NM_001401025.1:c.75C>G, NM_001401024.1:c.75C>G

Select item 14629858816.

rs1462985881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:133975988 (GRCh38)
5:133311679 (GRCh37)
Canonical SPDI:: NC_000005.10:133975987:G:A
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000077/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.133975988G>A, NC_000005.9:g.133311679G>A, NG_027817.2:g.34146C>T, NM_003374.3:c.585C>T, NM_003374.2:c.585C>T, NR_036625.2:n.713C>T, NR_036624.2:n.710C>T, NM_001401008.1:c.585C>T, NM_001401012.1:c.585C>T, NM_001401011.1:c.585C>T, NM_001401010.1:c.585C>T, NM_001401009.1:c.585C>T, NR_036625.1:n.911C>T, NR_036624.1:n.908C>T, NM_001401016.1:c.585C>T, NM_001401017.1:c.585C>T, NM_001401028.1:c.627C>T, NM_001401032.1:c.201C>T, NM_001401031.1:c.201C>T, NM_001401021.1:c.585C>T, NM_001401018.1:c.585C>T, NM_001401020.1:c.585C>T, NM_001401026.1:c.516C>T, NM_001401029.1:c.201C>T, NM_001401023.1:c.585C>T, NM_001401022.1:c.585C>T, NM_001401024.1:c.357C>T

Select item 14532848647.

rs1453284864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:133975942 (GRCh38)
5:133311633 (GRCh37)
Canonical SPDI:: NC_000005.10:133975941:T:C
Gene:: VDAC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133975942T>C, NC_000005.9:g.133311633T>C, NG_027817.2:g.34192A>G, NM_003374.3:c.631A>G, NM_003374.2:c.631A>G, NR_036625.2:n.759A>G, NR_036624.2:n.756A>G, NM_001401008.1:c.631A>G, NM_001401012.1:c.631A>G, NM_001401011.1:c.631A>G, NM_001401010.1:c.631A>G, NM_001401009.1:c.631A>G, NR_036625.1:n.957A>G, NR_036624.1:n.954A>G, NM_001401016.1:c.631A>G, NM_001401017.1:c.631A>G, NM_001401028.1:c.673A>G, NM_001401032.1:c.247A>G, NM_001401031.1:c.247A>G, NM_001401021.1:c.631A>G, NM_001401018.1:c.631A>G, NM_001401020.1:c.631A>G, NM_001401026.1:c.562A>G, NM_001401029.1:c.247A>G, NM_001401023.1:c.631A>G, NM_001401022.1:c.631A>G, NM_001401024.1:c.403A>G, NP_003365.1:p.Thr211Ala, NP_001387937.1:p.Thr211Ala, NP_001387940.1:p.Thr211Ala, NP_001387939.1:p.Thr211Ala, NP_001387938.1:p.Thr211Ala, NP_001387945.1:p.Thr211Ala, NP_001387946.1:p.Thr211Ala, NP_001387957.1:p.Thr225Ala, NP_001387961.1:p.Thr83Ala, NP_001387960.1:p.Thr83Ala, NP_001387950.1:p.Thr211Ala, NP_001387947.1:p.Thr211Ala, NP_001387949.1:p.Thr211Ala, NP_001387955.1:p.Thr188Ala, NP_001387958.1:p.Thr83Ala, NP_001387952.1:p.Thr211Ala, NP_001387951.1:p.Thr211Ala, NP_001387953.1:p.Thr135Ala

Select item 14512819008.

rs1451281900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:133991088 (GRCh38)
5:133326779 (GRCh37)
Canonical SPDI:: NC_000005.10:133991087:A:T
Gene:: VDAC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133991088A>T, NC_000005.9:g.133326779A>T, NG_027817.2:g.19046T>A, NM_003374.3:c.184T>A, NM_003374.2:c.184T>A, NR_036625.2:n.312T>A, NR_036624.2:n.309T>A, NM_001401008.1:c.184T>A, NM_001401012.1:c.184T>A, NM_001401011.1:c.184T>A, NM_001401010.1:c.184T>A, NM_001401009.1:c.184T>A, NR_036625.1:n.510T>A, NR_036624.1:n.507T>A, NM_001401016.1:c.184T>A, NM_001401017.1:c.184T>A, NM_001401028.1:c.184T>A, NM_001401032.1:c.-290T>A, NM_001401031.1:c.-190T>A, NM_001401021.1:c.184T>A, NM_001401018.1:c.184T>A, NM_001401020.1:c.184T>A, NM_001401026.1:c.115T>A, NM_001401029.1:c.-148T>A, NM_001401023.1:c.184T>A, NM_001401022.1:c.184T>A, NM_001401027.1:c.184T>A, NM_001401025.1:c.184T>A, NM_001401024.1:c.184T>A, NP_003365.1:p.Tyr62Asn, NP_001387937.1:p.Tyr62Asn, NP_001387940.1:p.Tyr62Asn, NP_001387939.1:p.Tyr62Asn, NP_001387938.1:p.Tyr62Asn, NP_001387945.1:p.Tyr62Asn, NP_001387946.1:p.Tyr62Asn, NP_001387957.1:p.Tyr62Asn, NP_001387950.1:p.Tyr62Asn, NP_001387947.1:p.Tyr62Asn, NP_001387949.1:p.Tyr62Asn, NP_001387955.1:p.Tyr39Asn, NP_001387952.1:p.Tyr62Asn, NP_001387951.1:p.Tyr62Asn, NP_001387956.1:p.Tyr62Asn, NP_001387954.1:p.Tyr62Asn, NP_001387953.1:p.Tyr62Asn

Select item 14475525889.

rs1447552588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:133991072 (GRCh38)
5:133326763 (GRCh37)
Canonical SPDI:: NC_000005.10:133991071:T:C
Gene:: VDAC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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_000005.10:g.133991072T>C, NC_000005.9:g.133326763T>C, NG_027817.2:g.19062A>G, NM_003374.3:c.200A>G, NM_003374.2:c.200A>G, NR_036625.2:n.328A>G, NR_036624.2:n.325A>G, NM_001401008.1:c.200A>G, NM_001401012.1:c.200A>G, NM_001401011.1:c.200A>G, NM_001401010.1:c.200A>G, NM_001401009.1:c.200A>G, NR_036625.1:n.526A>G, NR_036624.1:n.523A>G, NM_001401016.1:c.200A>G, NM_001401017.1:c.200A>G, NM_001401028.1:c.200A>G, NM_001401032.1:c.-274A>G, NM_001401031.1:c.-174A>G, NM_001401021.1:c.200A>G, NM_001401018.1:c.200A>G, NM_001401020.1:c.200A>G, NM_001401026.1:c.131A>G, NM_001401029.1:c.-132A>G, NM_001401023.1:c.200A>G, NM_001401022.1:c.200A>G, NM_001401027.1:c.200A>G, NM_001401025.1:c.200A>G, NM_001401024.1:c.200A>G, NP_003365.1:p.Tyr67Cys, NP_001387937.1:p.Tyr67Cys, NP_001387940.1:p.Tyr67Cys, NP_001387939.1:p.Tyr67Cys, NP_001387938.1:p.Tyr67Cys, NP_001387945.1:p.Tyr67Cys, NP_001387946.1:p.Tyr67Cys, NP_001387957.1:p.Tyr67Cys, NP_001387950.1:p.Tyr67Cys, NP_001387947.1:p.Tyr67Cys, NP_001387949.1:p.Tyr67Cys, NP_001387955.1:p.Tyr44Cys, NP_001387952.1:p.Tyr67Cys, NP_001387951.1:p.Tyr67Cys, NP_001387956.1:p.Tyr67Cys, NP_001387954.1:p.Tyr67Cys, NP_001387953.1:p.Tyr67Cys

Select item 144308030910.

rs1443080309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:133975907 (GRCh38)
5:133311598 (GRCh37)
Canonical SPDI:: NC_000005.10:133975906:T:A
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.133975907T>A, NC_000005.9:g.133311598T>A, NG_027817.2:g.34227A>T, NM_003374.3:c.666A>T, NM_003374.2:c.666A>T, NR_036625.2:n.794A>T, NR_036624.2:n.791A>T, NM_001401008.1:c.666A>T, NM_001401012.1:c.666A>T, NM_001401011.1:c.666A>T, NM_001401010.1:c.666A>T, NM_001401009.1:c.666A>T, NR_036625.1:n.992A>T, NR_036624.1:n.989A>T, NM_001401016.1:c.666A>T, NM_001401017.1:c.666A>T, NM_001401028.1:c.708A>T, NM_001401032.1:c.282A>T, NM_001401031.1:c.282A>T, NM_001401021.1:c.666A>T, NM_001401018.1:c.666A>T, NM_001401020.1:c.666A>T, NM_001401026.1:c.597A>T, NM_001401029.1:c.282A>T, NM_001401023.1:c.666A>T, NM_001401022.1:c.666A>T, NM_001401024.1:c.438A>T

Select item 143861745811.

rs1438617458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:133975887 (GRCh38)
5:133311578 (GRCh37)
Canonical SPDI:: NC_000005.10:133975886:G:A
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133975887G>A, NC_000005.9:g.133311578G>A, NG_027817.2:g.34247C>T, NM_003374.3:c.686C>T, NM_003374.2:c.686C>T, NR_036625.2:n.814C>T, NR_036624.2:n.811C>T, NM_001401008.1:c.686C>T, NM_001401012.1:c.686C>T, NM_001401011.1:c.686C>T, NM_001401010.1:c.686C>T, NM_001401009.1:c.686C>T, NR_036625.1:n.1012C>T, NR_036624.1:n.1009C>T, NM_001401016.1:c.686C>T, NM_001401017.1:c.686C>T, NM_001401028.1:c.728C>T, NM_001401032.1:c.302C>T, NM_001401031.1:c.302C>T, NM_001401021.1:c.686C>T, NM_001401018.1:c.686C>T, NM_001401020.1:c.686C>T, NM_001401026.1:c.617C>T, NM_001401029.1:c.302C>T, NM_001401023.1:c.686C>T, NM_001401022.1:c.686C>T, NM_001401024.1:c.458C>T, NP_003365.1:p.Pro229Leu, NP_001387937.1:p.Pro229Leu, NP_001387940.1:p.Pro229Leu, NP_001387939.1:p.Pro229Leu, NP_001387938.1:p.Pro229Leu, NP_001387945.1:p.Pro229Leu, NP_001387946.1:p.Pro229Leu, NP_001387957.1:p.Pro243Leu, NP_001387961.1:p.Pro101Leu, NP_001387960.1:p.Pro101Leu, NP_001387950.1:p.Pro229Leu, NP_001387947.1:p.Pro229Leu, NP_001387949.1:p.Pro229Leu, NP_001387955.1:p.Pro206Leu, NP_001387958.1:p.Pro101Leu, NP_001387952.1:p.Pro229Leu, NP_001387951.1:p.Pro229Leu, NP_001387953.1:p.Pro153Leu

Select item 143771530612.

rs1437715306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:133980868 (GRCh38)
5:133316559 (GRCh37)
Canonical SPDI:: NC_000005.10:133980867:T:A
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.133980868T>A, NC_000005.9:g.133316559T>A, NG_027817.2:g.29266A>T, NM_003374.3:c.412A>T, NM_003374.2:c.412A>T, NR_036625.2:n.540A>T, NR_036624.2:n.537A>T, NM_001401008.1:c.412A>T, NM_001401012.1:c.412A>T, NM_001401011.1:c.412A>T, NM_001401010.1:c.412A>T, NM_001401009.1:c.412A>T, NR_036625.1:n.738A>T, NR_036624.1:n.735A>T, NM_001401016.1:c.412A>T, NM_001401017.1:c.412A>T, NM_001401028.1:c.454A>T, NM_001401032.1:c.28A>T, NM_001401031.1:c.28A>T, NM_001401021.1:c.412A>T, NM_001401018.1:c.412A>T, NM_001401020.1:c.412A>T, NM_001401026.1:c.343A>T, NM_001401029.1:c.28A>T, NM_001401023.1:c.412A>T, NM_001401022.1:c.412A>T, NM_001401025.1:c.412A>T, NP_003365.1:p.Ile138Phe, NP_001387937.1:p.Ile138Phe, NP_001387940.1:p.Ile138Phe, NP_001387939.1:p.Ile138Phe, NP_001387938.1:p.Ile138Phe, NP_001387945.1:p.Ile138Phe, NP_001387946.1:p.Ile138Phe, NP_001387957.1:p.Ile152Phe, NP_001387961.1:p.Ile10Phe, NP_001387960.1:p.Ile10Phe, NP_001387950.1:p.Ile138Phe, NP_001387947.1:p.Ile138Phe, NP_001387949.1:p.Ile138Phe, NP_001387955.1:p.Ile115Phe, NP_001387958.1:p.Ile10Phe, NP_001387952.1:p.Ile138Phe, NP_001387951.1:p.Ile138Phe, NP_001387954.1:p.Ile138Phe

Select item 143566650713.

rs1435666507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:133972807 (GRCh38)
5:133308498 (GRCh37)
Canonical SPDI:: NC_000005.10:133972806:G:T
Gene:: VDAC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133972807G>T, NC_000005.9:g.133308498G>T, NG_027817.2:g.37327C>A, NM_003374.3:c.816C>A, NM_003374.2:c.816C>A, NR_036625.2:n.944C>A, NR_036624.2:n.941C>A, NM_001401008.1:c.816C>A, NM_001401012.1:c.816C>A, NM_001401011.1:c.816C>A, NM_001401010.1:c.816C>A, NM_001401009.1:c.816C>A, NR_036625.1:n.1142C>A, NR_036624.1:n.1139C>A, NM_001401016.1:c.816C>A, NM_001401017.1:c.816C>A, NM_001401028.1:c.858C>A, NM_001401032.1:c.432C>A, NM_001401031.1:c.432C>A, NM_001401021.1:c.816C>A, NM_001401018.1:c.816C>A, NM_001401020.1:c.816C>A, NM_001401026.1:c.747C>A, NM_001401029.1:c.432C>A, NM_001401023.1:c.816C>A, NM_001401022.1:c.816C>A, NM_001401025.1:c.663C>A, NM_001401024.1:c.588C>A

Select item 143088531114.

rs1430885311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:133992988 (GRCh38)
5:133328679 (GRCh37)
Canonical SPDI:: NC_000005.10:133992987:C:G,NC_000005.10:133992987:C:T
Gene:: VDAC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.133992988C>G, NC_000005.10:g.133992988C>T, NC_000005.9:g.133328679C>G, NC_000005.9:g.133328679C>T, NG_027817.2:g.17146G>C, NG_027817.2:g.17146G>A, NM_003374.3:c.25G>C, NM_003374.3:c.25G>A, NM_003374.2:c.25G>C, NM_003374.2:c.25G>A, NR_036625.2:n.153G>C, NR_036625.2:n.153G>A, NR_036624.2:n.150G>C, NR_036624.2:n.150G>A, NM_001401008.1:c.25G>C, NM_001401008.1:c.25G>A, NM_001401012.1:c.25G>C, NM_001401012.1:c.25G>A, NM_001401011.1:c.25G>C, NM_001401011.1:c.25G>A, NM_001401010.1:c.25G>C, NM_001401010.1:c.25G>A, NM_001401009.1:c.25G>C, NM_001401009.1:c.25G>A, NR_036625.1:n.351G>C, NR_036625.1:n.351G>A, NR_036624.1:n.348G>C, NR_036624.1:n.348G>A, NM_001401016.1:c.25G>C, NM_001401016.1:c.25G>A, NM_001401017.1:c.25G>C, NM_001401017.1:c.25G>A, NM_001401028.1:c.25G>C, NM_001401028.1:c.25G>A, NM_001401032.1:c.-399G>C, NM_001401032.1:c.-399G>A, NM_001401031.1:c.-349G>C, NM_001401031.1:c.-349G>A, NM_001401021.1:c.25G>C, NM_001401021.1:c.25G>A, NM_001401018.1:c.25G>C, NM_001401018.1:c.25G>A, NM_001401020.1:c.25G>C, NM_001401020.1:c.25G>A, NM_001401026.1:c.6G>C, NM_001401026.1:c.6G>A, NM_001401029.1:c.-307G>C, NM_001401029.1:c.-307G>A, NM_001401023.1:c.25G>C, NM_001401023.1:c.25G>A, NM_001401022.1:c.25G>C, NM_001401022.1:c.25G>A, NM_001401027.1:c.25G>C, NM_001401027.1:c.25G>A, NM_001401025.1:c.25G>C, NM_001401025.1:c.25G>A, NM_001401024.1:c.25G>C, NM_001401024.1:c.25G>A, NP_003365.1:p.Asp9His, NP_003365.1:p.Asp9Asn, NP_001387937.1:p.Asp9His, NP_001387937.1:p.Asp9Asn, NP_001387940.1:p.Asp9His, NP_001387940.1:p.Asp9Asn, NP_001387939.1:p.Asp9His, NP_001387939.1:p.Asp9Asn, NP_001387938.1:p.Asp9His, NP_001387938.1:p.Asp9Asn, NP_001387945.1:p.Asp9His, NP_001387945.1:p.Asp9Asn, NP_001387946.1:p.Asp9His, NP_001387946.1:p.Asp9Asn, NP_001387957.1:p.Asp9His, NP_001387957.1:p.Asp9Asn, NP_001387950.1:p.Asp9His, NP_001387950.1:p.Asp9Asn, NP_001387947.1:p.Asp9His, NP_001387947.1:p.Asp9Asn, NP_001387949.1:p.Asp9His, NP_001387949.1:p.Asp9Asn, NP_001387952.1:p.Asp9His, NP_001387952.1:p.Asp9Asn, NP_001387951.1:p.Asp9His, NP_001387951.1:p.Asp9Asn, NP_001387956.1:p.Asp9His, NP_001387956.1:p.Asp9Asn, NP_001387954.1:p.Asp9His, NP_001387954.1:p.Asp9Asn, NP_001387953.1:p.Asp9His, NP_001387953.1:p.Asp9Asn

Select item 142595635215.

rs1425956352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:133980895 (GRCh38)
5:133316586 (GRCh37)
Canonical SPDI:: NC_000005.10:133980894:T:C
Gene:: VDAC1 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133980895T>C, NC_000005.9:g.133316586T>C, NG_027817.2:g.29239A>G, NM_003374.3:c.385A>G, NM_003374.2:c.385A>G, NR_036625.2:n.513A>G, NR_036624.2:n.510A>G, NM_001401008.1:c.385A>G, NM_001401012.1:c.385A>G, NM_001401011.1:c.385A>G, NM_001401010.1:c.385A>G, NM_001401009.1:c.385A>G, NR_036625.1:n.711A>G, NR_036624.1:n.708A>G, NM_001401016.1:c.385A>G, NM_001401017.1:c.385A>G, NM_001401028.1:c.427A>G, NM_001401032.1:c.1A>G, NM_001401031.1:c.1A>G, NM_001401021.1:c.385A>G, NM_001401018.1:c.385A>G, NM_001401020.1:c.385A>G, NM_001401026.1:c.316A>G, NM_001401029.1:c.1A>G, NM_001401023.1:c.385A>G, NM_001401022.1:c.385A>G, NM_001401025.1:c.385A>G, NP_003365.1:p.Met129Val, NP_001387937.1:p.Met129Val, NP_001387940.1:p.Met129Val, NP_001387939.1:p.Met129Val, NP_001387938.1:p.Met129Val, NP_001387945.1:p.Met129Val, NP_001387946.1:p.Met129Val, NP_001387957.1:p.Met143Val, NP_001387961.1:p.Met1Val, NP_001387960.1:p.Met1Val, NP_001387950.1:p.Met129Val, NP_001387947.1:p.Met129Val, NP_001387949.1:p.Met129Val, NP_001387955.1:p.Met106Val, NP_001387958.1:p.Met1Val, NP_001387952.1:p.Met129Val, NP_001387951.1:p.Met129Val, NP_001387954.1:p.Met129Val

Select item 142384464816.

rs1423844648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:133992338 (GRCh38)
5:133328029 (GRCh37)
Canonical SPDI:: NC_000005.10:133992337:G:C
Gene:: VDAC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.133992338G>C, NC_000005.9:g.133328029G>C, NG_027817.2:g.17796C>G, NM_003374.3:c.85C>G, NM_003374.2:c.85C>G, NR_036625.2:n.213C>G, NR_036624.2:n.210C>G, NM_001401008.1:c.85C>G, NM_001401012.1:c.85C>G, NM_001401011.1:c.85C>G, NM_001401010.1:c.85C>G, NM_001401009.1:c.85C>G, NR_036625.1:n.411C>G, NR_036624.1:n.408C>G, NM_001401016.1:c.85C>G, NM_001401017.1:c.85C>G, NM_001401028.1:c.85C>G, NM_001401031.1:c.-289C>G, NM_001401021.1:c.85C>G, NM_001401018.1:c.85C>G, NM_001401020.1:c.85C>G, NM_001401029.1:c.-247C>G, NM_001401023.1:c.85C>G, NM_001401022.1:c.85C>G, NM_001401027.1:c.85C>G, NM_001401025.1:c.85C>G, NM_001401024.1:c.85C>G, NP_003365.1:p.Leu29Val, NP_001387937.1:p.Leu29Val, NP_001387940.1:p.Leu29Val, NP_001387939.1:p.Leu29Val, NP_001387938.1:p.Leu29Val, NP_001387945.1:p.Leu29Val, NP_001387946.1:p.Leu29Val, NP_001387957.1:p.Leu29Val, NP_001387950.1:p.Leu29Val, NP_001387947.1:p.Leu29Val, NP_001387949.1:p.Leu29Val, NP_001387952.1:p.Leu29Val, NP_001387951.1:p.Leu29Val, NP_001387956.1:p.Leu29Val, NP_001387954.1:p.Leu29Val, NP_001387953.1:p.Leu29Val

Select item 142132845717.

rs1421328457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:133993003 (GRCh38)
5:133328694 (GRCh37)
Canonical SPDI:: NC_000005.10:133993002:G:C
Gene:: VDAC1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133993003G>C, NC_000005.9:g.133328694G>C, NG_027817.2:g.17131C>G, NM_003374.3:c.10C>G, NM_003374.2:c.10C>G, NR_036625.2:n.138C>G, NR_036624.2:n.135C>G, NM_001401008.1:c.10C>G, NM_001401012.1:c.10C>G, NM_001401011.1:c.10C>G, NM_001401010.1:c.10C>G, NM_001401009.1:c.10C>G, NR_036625.1:n.336C>G, NR_036624.1:n.333C>G, NM_001401016.1:c.10C>G, NM_001401017.1:c.10C>G, NM_001401028.1:c.10C>G, NM_001401032.1:c.-414C>G, NM_001401031.1:c.-364C>G, NM_001401021.1:c.10C>G, NM_001401018.1:c.10C>G, NM_001401020.1:c.10C>G, NM_001401026.1:c.-10C>G, NM_001401029.1:c.-322C>G, NM_001401023.1:c.10C>G, NM_001401022.1:c.10C>G, NM_001401027.1:c.10C>G, NM_001401025.1:c.10C>G, NM_001401024.1:c.10C>G, NP_003365.1:p.Pro4Ala, NP_001387937.1:p.Pro4Ala, NP_001387940.1:p.Pro4Ala, NP_001387939.1:p.Pro4Ala, NP_001387938.1:p.Pro4Ala, NP_001387945.1:p.Pro4Ala, NP_001387946.1:p.Pro4Ala, NP_001387957.1:p.Pro4Ala, NP_001387950.1:p.Pro4Ala, NP_001387947.1:p.Pro4Ala, NP_001387949.1:p.Pro4Ala, NP_001387952.1:p.Pro4Ala, NP_001387951.1:p.Pro4Ala, NP_001387956.1:p.Pro4Ala, NP_001387954.1:p.Pro4Ala, NP_001387953.1:p.Pro4Ala

Select item 142071259718.

rs1420712597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:133980790 (GRCh38)
5:133316481 (GRCh37)
Canonical SPDI:: NC_000005.10:133980789:C:T
Gene:: VDAC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133980790C>T, NC_000005.9:g.133316481C>T, NG_027817.2:g.29344G>A, NM_003374.3:c.490G>A, NM_003374.2:c.490G>A, NR_036625.2:n.618G>A, NR_036624.2:n.615G>A, NM_001401008.1:c.490G>A, NM_001401012.1:c.490G>A, NM_001401011.1:c.490G>A, NM_001401010.1:c.490G>A, NM_001401009.1:c.490G>A, NR_036625.1:n.816G>A, NR_036624.1:n.813G>A, NM_001401016.1:c.490G>A, NM_001401017.1:c.490G>A, NM_001401028.1:c.532G>A, NM_001401032.1:c.106G>A, NM_001401031.1:c.106G>A, NM_001401021.1:c.490G>A, NM_001401018.1:c.490G>A, NM_001401020.1:c.490G>A, NM_001401026.1:c.421G>A, NM_001401029.1:c.106G>A, NM_001401023.1:c.490G>A, NM_001401022.1:c.490G>A, NM_001401025.1:c.490G>A, NP_003365.1:p.Val164Met, NP_001387937.1:p.Val164Met, NP_001387940.1:p.Val164Met, NP_001387939.1:p.Val164Met, NP_001387938.1:p.Val164Met, NP_001387945.1:p.Val164Met, NP_001387946.1:p.Val164Met, NP_001387957.1:p.Val178Met, NP_001387961.1:p.Val36Met, NP_001387960.1:p.Val36Met, NP_001387950.1:p.Val164Met, NP_001387947.1:p.Val164Met, NP_001387949.1:p.Val164Met, NP_001387955.1:p.Val141Met, NP_001387958.1:p.Val36Met, NP_001387952.1:p.Val164Met, NP_001387951.1:p.Val164Met, NP_001387954.1:p.Val164Met

Select item 140807328219.

rs1408073282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:133992347 (GRCh38)
5:133328038 (GRCh37)
Canonical SPDI:: NC_000005.10:133992346:A:G
Gene:: VDAC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.133992347A>G, NC_000005.9:g.133328038A>G, NG_027817.2:g.17787T>C, NM_003374.3:c.76T>C, NM_003374.2:c.76T>C, NR_036625.2:n.204T>C, NR_036624.2:n.201T>C, NM_001401008.1:c.76T>C, NM_001401012.1:c.76T>C, NM_001401011.1:c.76T>C, NM_001401010.1:c.76T>C, NM_001401009.1:c.76T>C, NR_036625.1:n.402T>C, NR_036624.1:n.399T>C, NM_001401016.1:c.76T>C, NM_001401017.1:c.76T>C, NM_001401028.1:c.76T>C, NM_001401031.1:c.-298T>C, NM_001401021.1:c.76T>C, NM_001401018.1:c.76T>C, NM_001401020.1:c.76T>C, NM_001401029.1:c.-256T>C, NM_001401023.1:c.76T>C, NM_001401022.1:c.76T>C, NM_001401027.1:c.76T>C, NM_001401025.1:c.76T>C, NM_001401024.1:c.76T>C

Select item 140596685420.

rs1405966854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:133980874 (GRCh38)
5:133316565 (GRCh37)
Canonical SPDI:: NC_000005.10:133980873:G:A,NC_000005.10:133980873:G:T
Gene:: VDAC1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.133980874G>A, NC_000005.10:g.133980874G>T, NC_000005.9:g.133316565G>A, NC_000005.9:g.133316565G>T, NG_027817.2:g.29260C>T, NG_027817.2:g.29260C>A, NM_003374.3:c.406C>T, NM_003374.3:c.406C>A, NM_003374.2:c.406C>T, NM_003374.2:c.406C>A, NR_036625.2:n.534C>T, NR_036625.2:n.534C>A, NR_036624.2:n.531C>T, NR_036624.2:n.531C>A, NM_001401008.1:c.406C>T, NM_001401008.1:c.406C>A, NM_001401012.1:c.406C>T, NM_001401012.1:c.406C>A, NM_001401011.1:c.406C>T, NM_001401011.1:c.406C>A, NM_001401010.1:c.406C>T, NM_001401010.1:c.406C>A, NM_001401009.1:c.406C>T, NM_001401009.1:c.406C>A, NR_036625.1:n.732C>T, NR_036625.1:n.732C>A, NR_036624.1:n.729C>T, NR_036624.1:n.729C>A, NM_001401016.1:c.406C>T, NM_001401016.1:c.406C>A, NM_001401017.1:c.406C>T, NM_001401017.1:c.406C>A, NM_001401028.1:c.448C>T, NM_001401028.1:c.448C>A, NM_001401032.1:c.22C>T, NM_001401032.1:c.22C>A, NM_001401031.1:c.22C>T, NM_001401031.1:c.22C>A, NM_001401021.1:c.406C>T, NM_001401021.1:c.406C>A, NM_001401018.1:c.406C>T, NM_001401018.1:c.406C>A, NM_001401020.1:c.406C>T, NM_001401020.1:c.406C>A, NM_001401026.1:c.337C>T, NM_001401026.1:c.337C>A, NM_001401029.1:c.22C>T, NM_001401029.1:c.22C>A, NM_001401023.1:c.406C>T, NM_001401023.1:c.406C>A, NM_001401022.1:c.406C>T, NM_001401022.1:c.406C>A, NM_001401025.1:c.406C>T, NM_001401025.1:c.406C>A, NP_003365.1:p.Pro136Ser, NP_003365.1:p.Pro136Thr, NP_001387937.1:p.Pro136Ser, NP_001387937.1:p.Pro136Thr, NP_001387940.1:p.Pro136Ser, NP_001387940.1:p.Pro136Thr, NP_001387939.1:p.Pro136Ser, NP_001387939.1:p.Pro136Thr, NP_001387938.1:p.Pro136Ser, NP_001387938.1:p.Pro136Thr, NP_001387945.1:p.Pro136Ser, NP_001387945.1:p.Pro136Thr, NP_001387946.1:p.Pro136Ser, NP_001387946.1:p.Pro136Thr, NP_001387957.1:p.Pro150Ser, NP_001387957.1:p.Pro150Thr, NP_001387961.1:p.Pro8Ser, NP_001387961.1:p.Pro8Thr, NP_001387960.1:p.Pro8Ser, NP_001387960.1:p.Pro8Thr, NP_001387950.1:p.Pro136Ser, NP_001387950.1:p.Pro136Thr, NP_001387947.1:p.Pro136Ser, NP_001387947.1:p.Pro136Thr, NP_001387949.1:p.Pro136Ser, NP_001387949.1:p.Pro136Thr, NP_001387955.1:p.Pro113Ser, NP_001387955.1:p.Pro113Thr, NP_001387958.1:p.Pro8Ser, NP_001387958.1:p.Pro8Thr, NP_001387952.1:p.Pro136Ser, NP_001387952.1:p.Pro136Thr, NP_001387951.1:p.Pro136Ser, NP_001387951.1:p.Pro136Thr, NP_001387954.1:p.Pro136Ser, NP_001387954.1:p.Pro136Thr

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