SNP Links for Protein (Select 633257765) - SNP

Select item 14864846441.

rs1486484644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:89337482 (GRCh38)
11:89070650 (GRCh37)
Canonical SPDI:: NC_000011.10:89337481:T:C
Gene:: NOX4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.89337482T>C, NC_000011.9:g.89070650T>C, NM_016931.5:c.1480A>G, NM_016931.4:c.1480A>G, NM_016931.3:c.1480A>G, NM_001143836.3:c.1360A>G, NM_001143836.2:c.1360A>G, NM_001143836.1:c.1360A>G, NM_001143837.2:c.1408A>G, NM_001143837.1:c.1408A>G, NM_001291926.2:c.1258A>G, NM_001291926.1:c.1258A>G, NM_001291929.2:c.1405A>G, NM_001291929.1:c.1405A>G, NR_026571.1:n.1715A>G, NM_001291927.1:c.1543A>G, NM_001300995.1:c.1288A>G, NP_058627.2:p.Ile494Val, NP_001137308.2:p.Ile454Val, NP_001137309.2:p.Ile470Val, NP_001278855.2:p.Ile420Val, NP_001278858.2:p.Ile469Val, NP_001278856.1:p.Ile515Val, NP_001287924.1:p.Ile430Val

Select item 14818342782.

rs1481834278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89337486 (GRCh38)
11:89070654 (GRCh37)
Canonical SPDI:: NC_000011.10:89337485:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.89337486G>A, NC_000011.9:g.89070654G>A, NM_016931.5:c.1476C>T, NM_016931.4:c.1476C>T, NM_016931.3:c.1476C>T, NM_001143836.3:c.1356C>T, NM_001143836.2:c.1356C>T, NM_001143836.1:c.1356C>T, NM_001143837.2:c.1404C>T, NM_001143837.1:c.1404C>T, NM_001291926.2:c.1254C>T, NM_001291926.1:c.1254C>T, NM_001291929.2:c.1401C>T, NM_001291929.1:c.1401C>T, NR_026571.1:n.1711C>T, NM_001291927.1:c.1539C>T, NM_001300995.1:c.1284C>T

Select item 14817391123.

rs1481739112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:89490925 (GRCh38)
11:89224093 (GRCh37)
Canonical SPDI:: NC_000011.10:89490924:G:T
Gene:: NOX4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000011.10:g.89490925G>T, NC_000011.9:g.89224093G>T, XM_017017843.3:c.48C>A, XM_017017843.2:c.48C>A, XM_017017843.1:c.48C>A, NM_001291927.1:c.48C>A, XP_016873332.1:p.Tyr16Ter, NP_001278856.1:p.Tyr16Ter

Select item 14815272804.

rs1481527280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:89337458 (GRCh38)
11:89070626 (GRCh37)
Canonical SPDI:: NC_000011.10:89337457:C:T
Gene:: NOX4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.89337458C>T, NC_000011.9:g.89070626C>T, NM_016931.5:c.1504G>A, NM_016931.4:c.1504G>A, NM_016931.3:c.1504G>A, NM_001143836.3:c.1384G>A, NM_001143836.2:c.1384G>A, NM_001143836.1:c.1384G>A, NM_001143837.2:c.1432G>A, NM_001143837.1:c.1432G>A, NM_001291926.2:c.1282G>A, NM_001291926.1:c.1282G>A, NM_001291929.2:c.1429G>A, NM_001291929.1:c.1429G>A, NR_026571.1:n.1739G>A, NM_001291927.1:c.1567G>A, NM_001300995.1:c.1312G>A, NP_058627.2:p.Asp502Asn, NP_001137308.2:p.Asp462Asn, NP_001137309.2:p.Asp478Asn, NP_001278855.2:p.Asp428Asn, NP_001278858.2:p.Asp477Asn, NP_001278856.1:p.Asp523Asn, NP_001287924.1:p.Asp438Asn

Select item 14744969575.

rs1474496957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:89490542 (GRCh38)
11:89223710 (GRCh37)
Canonical SPDI:: NC_000011.10:89490541:G:C
Gene:: NOX4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.89490542G>C, NC_000011.9:g.89223710G>C, NM_016931.5:c.69C>G, NM_016931.4:c.69C>G, NM_016931.3:c.69C>G, NM_001143836.3:c.69C>G, NM_001143836.2:c.69C>G, NM_001143836.1:c.69C>G, XM_017017843.3:c.132C>G, XM_017017843.2:c.132C>G, XM_017017843.1:c.132C>G, NM_001143837.2:c.-4C>G, NM_001143837.1:c.-4C>G, NM_001291926.2:c.-150C>G, NM_001291926.1:c.-150C>G, NR_120406.2:n.198C>G, NR_120406.1:n.388C>G, NR_026571.1:n.308C>G, NM_001291927.1:c.132C>G, NM_001300995.1:c.-4C>G

Select item 14743364356.

rs1474336435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:89400066 (GRCh38)
11:89133234 (GRCh37)
Canonical SPDI:: NC_000011.10:89400065:T:C
Gene:: NOX4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.89400066T>C, NC_000011.9:g.89133234T>C, NM_016931.5:c.1025A>G, NM_016931.4:c.1025A>G, NM_016931.3:c.1025A>G, NM_001143836.3:c.1025A>G, NM_001143836.2:c.1025A>G, NM_001143836.1:c.1025A>G, XM_017017843.3:c.1088A>G, XM_017017843.2:c.1088A>G, XM_017017843.1:c.1088A>G, NM_001143837.2:c.953A>G, NM_001143837.1:c.953A>G, NM_001291926.2:c.803A>G, NM_001291926.1:c.803A>G, NM_001291929.2:c.950A>G, NM_001291929.1:c.950A>G, NR_026571.1:n.1260A>G, NM_001291927.1:c.1088A>G, NM_001300995.1:c.953A>G, NP_058627.2:p.His342Arg, NP_001137308.2:p.His342Arg, XP_016873332.1:p.His363Arg, NP_001137309.2:p.His318Arg, NP_001278855.2:p.His268Arg, NP_001278858.2:p.His317Arg, NP_001278856.1:p.His363Arg, NP_001287924.1:p.His318Arg

Select item 14737869817.

rs1473786981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:89326781 (GRCh38)
11:89059949 (GRCh37)
Canonical SPDI:: NC_000011.10:89326780:T:G
Gene:: NOX4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89326781T>G, NC_000011.9:g.89059949T>G, NM_016931.5:c.1712A>C, NM_016931.4:c.1712A>C, NM_016931.3:c.1712A>C, NM_001143836.3:c.1592A>C, NM_001143836.2:c.1592A>C, NM_001143836.1:c.1592A>C, NM_001143837.2:c.1640A>C, NM_001143837.1:c.1640A>C, NM_001291926.2:c.1490A>C, NM_001291926.1:c.1490A>C, NM_001291929.2:c.1637A>C, NM_001291929.1:c.1637A>C, NR_026571.1:n.1947A>C, NM_001291927.1:c.1775A>C, NM_001300995.1:c.1520A>C, NP_058627.2:p.Glu571Ala, NP_001137308.2:p.Glu531Ala, NP_001137309.2:p.Glu547Ala, NP_001278855.2:p.Glu497Ala, NP_001278858.2:p.Glu546Ala, NP_001278856.1:p.Glu592Ala, NP_001287924.1:p.Glu507Ala

Select item 14706472098.

rs1470647209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:89342080 (GRCh38)
11:89075248 (GRCh37)
Canonical SPDI:: NC_000011.10:89342079:G:A,NC_000011.10:89342079:G:T
Gene:: NOX4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.89342080G>A, NC_000011.10:g.89342080G>T, NC_000011.9:g.89075248G>A, NC_000011.9:g.89075248G>T, NM_016931.5:c.1331C>T, NM_016931.5:c.1331C>A, NM_016931.4:c.1331C>T, NM_016931.4:c.1331C>A, NM_016931.3:c.1331C>T, NM_016931.3:c.1331C>A, NM_001143837.2:c.1259C>T, NM_001143837.2:c.1259C>A, NM_001143837.1:c.1259C>T, NM_001143837.1:c.1259C>A, NM_001291926.2:c.1109C>T, NM_001291926.2:c.1109C>A, NM_001291926.1:c.1109C>T, NM_001291926.1:c.1109C>A, NM_001291929.2:c.1256C>T, NM_001291929.2:c.1256C>A, NM_001291929.1:c.1256C>T, NM_001291929.1:c.1256C>A, NR_026571.1:n.1566C>T, NR_026571.1:n.1566C>A, NM_001291927.1:c.1394C>T, NM_001291927.1:c.1394C>A, NP_058627.2:p.Thr444Ile, NP_058627.2:p.Thr444Asn, NP_001137309.2:p.Thr420Ile, NP_001137309.2:p.Thr420Asn, NP_001278855.2:p.Thr370Ile, NP_001278855.2:p.Thr370Asn, NP_001278858.2:p.Thr419Ile, NP_001278858.2:p.Thr419Asn, NP_001278856.1:p.Thr465Ile, NP_001278856.1:p.Thr465Asn

Select item 14702992749.

rs1470299274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:89444162 (GRCh38)
11:89177330 (GRCh37)
Canonical SPDI:: NC_000011.10:89444161:T:G
Gene:: NOX4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89444162T>G, NC_000011.9:g.89177330T>G, NM_016931.5:c.420A>C, NM_016931.4:c.420A>C, NM_016931.3:c.420A>C, NM_001143836.3:c.420A>C, NM_001143836.2:c.420A>C, NM_001143836.1:c.420A>C, XM_017017843.3:c.483A>C, XM_017017843.2:c.483A>C, XM_017017843.1:c.483A>C, NM_001143837.2:c.348A>C, NM_001143837.1:c.348A>C, NM_001291926.2:c.198A>C, NM_001291926.1:c.198A>C, NM_001291929.2:c.345A>C, NM_001291929.1:c.345A>C, NR_026571.1:n.655A>C, NM_001291927.1:c.483A>C, NM_001300995.1:c.348A>C, NP_058627.2:p.Glu140Asp, NP_001137308.2:p.Glu140Asp, XP_016873332.1:p.Glu161Asp, NP_001137309.2:p.Glu116Asp, NP_001278855.2:p.Glu66Asp, NP_001278858.2:p.Glu115Asp, NP_001278856.1:p.Glu161Asp, NP_001287924.1:p.Glu116Asp

Select item 147024099510.

rs1470240995 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:89490527 (GRCh38)
11:89223695 (GRCh37)
Canonical SPDI:: NC_000011.10:89490526:C:
Gene:: NOX4 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89490527del, NC_000011.9:g.89223695del, NM_016931.5:c.84del, NM_016931.4:c.84del, NM_016931.3:c.84del, NM_001143836.3:c.84del, NM_001143836.2:c.84del, NM_001143836.1:c.84del, XM_017017843.3:c.147del, XM_017017843.2:c.147del, XM_017017843.1:c.147del, NM_001143837.2:c.12del, NM_001143837.1:c.12del, NM_001291926.2:c.-135del, NM_001291926.1:c.-135del, NR_120406.2:n.213del, NR_120406.1:n.403del, NR_026571.1:n.323del, NM_001291927.1:c.147del, NM_001300995.1:c.12del, NP_058627.2:p.Leu29fs, NP_001137308.2:p.Leu29fs, XP_016873332.1:p.Leu50fs, NP_001137309.2:p.Leu5fs, NP_001278856.1:p.Leu50fs, NP_001287924.1:p.Leu5fs

Select item 146886703411.

rs1468867034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89451820 (GRCh38)
11:89184988 (GRCh37)
Canonical SPDI:: NC_000011.10:89451819:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89451820G>A, NC_000011.9:g.89184988G>A, NM_016931.5:c.229C>T, NM_016931.4:c.229C>T, NM_016931.3:c.229C>T, NM_001143836.3:c.229C>T, NM_001143836.2:c.229C>T, NM_001143836.1:c.229C>T, XM_017017843.3:c.292C>T, XM_017017843.2:c.292C>T, XM_017017843.1:c.292C>T, NM_001143837.2:c.157C>T, NM_001143837.1:c.157C>T, NM_001291926.2:c.7C>T, NM_001291926.1:c.7C>T, NM_001291929.2:c.154C>T, NM_001291929.1:c.154C>T, NR_026571.1:n.464C>T, NM_001291927.1:c.292C>T, NM_001300995.1:c.157C>T, NP_058627.2:p.Arg77Ter, NP_001137308.2:p.Arg77Ter, XP_016873332.1:p.Arg98Ter, NP_001137309.2:p.Arg53Ter, NP_001278855.2:p.Arg3Ter, NP_001278858.2:p.Arg52Ter, NP_001278856.1:p.Arg98Ter, NP_001287924.1:p.Arg53Ter

Select item 146871771212.

rs1468717712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:89451863 (GRCh38)
11:89185031 (GRCh37)
Canonical SPDI:: NC_000011.10:89451862:A:G
Gene:: NOX4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89451863A>G, NC_000011.9:g.89185031A>G, NM_016931.5:c.186T>C, NM_016931.4:c.186T>C, NM_016931.3:c.186T>C, NM_001143836.3:c.186T>C, NM_001143836.2:c.186T>C, NM_001143836.1:c.186T>C, XM_017017843.3:c.249T>C, XM_017017843.2:c.249T>C, XM_017017843.1:c.249T>C, NM_001143837.2:c.114T>C, NM_001143837.1:c.114T>C, NM_001291926.2:c.-37T>C, NM_001291926.1:c.-37T>C, NM_001291929.2:c.111T>C, NM_001291929.1:c.111T>C, NR_026571.1:n.421T>C, NM_001291927.1:c.249T>C, NM_001300995.1:c.114T>C

Select item 146842588313.

rs1468425883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:89400364 (GRCh38)
11:89133532 (GRCh37)
Canonical SPDI:: NC_000011.10:89400363:A:C
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89400364A>C, NC_000011.9:g.89133532A>C, NM_016931.5:c.862T>G, NM_016931.4:c.862T>G, NM_016931.3:c.862T>G, NM_001143836.3:c.862T>G, NM_001143836.2:c.862T>G, NM_001143836.1:c.862T>G, XM_017017843.3:c.925T>G, XM_017017843.2:c.925T>G, XM_017017843.1:c.925T>G, NM_001143837.2:c.790T>G, NM_001143837.1:c.790T>G, NM_001291926.2:c.640T>G, NM_001291926.1:c.640T>G, NM_001291929.2:c.787T>G, NM_001291929.1:c.787T>G, NR_026571.1:n.1097T>G, NM_001291927.1:c.925T>G, NM_001300995.1:c.790T>G, NP_058627.2:p.Ser288Ala, NP_001137308.2:p.Ser288Ala, XP_016873332.1:p.Ser309Ala, NP_001137309.2:p.Ser264Ala, NP_001278855.2:p.Ser214Ala, NP_001278858.2:p.Ser263Ala, NP_001278856.1:p.Ser309Ala, NP_001287924.1:p.Ser264Ala

Select item 146730071814.

rs1467300718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89451814 (GRCh38)
11:89184982 (GRCh37)
Canonical SPDI:: NC_000011.10:89451813:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89451814G>A, NC_000011.9:g.89184982G>A, NM_016931.5:c.235C>T, NM_016931.4:c.235C>T, NM_016931.3:c.235C>T, NM_001143836.3:c.235C>T, NM_001143836.2:c.235C>T, NM_001143836.1:c.235C>T, XM_017017843.3:c.298C>T, XM_017017843.2:c.298C>T, XM_017017843.1:c.298C>T, NM_001143837.2:c.163C>T, NM_001143837.1:c.163C>T, NM_001291926.2:c.13C>T, NM_001291926.1:c.13C>T, NM_001291929.2:c.160C>T, NM_001291929.1:c.160C>T, NR_026571.1:n.470C>T, NM_001291927.1:c.298C>T, NM_001300995.1:c.163C>T, NP_058627.2:p.Leu79Phe, NP_001137308.2:p.Leu79Phe, XP_016873332.1:p.Leu100Phe, NP_001137309.2:p.Leu55Phe, NP_001278855.2:p.Leu5Phe, NP_001278858.2:p.Leu54Phe, NP_001278856.1:p.Leu100Phe, NP_001287924.1:p.Leu55Phe

Select item 146630834215.

rs1466308342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:89355022 (GRCh38)
11:89088190 (GRCh37)
Canonical SPDI:: NC_000011.10:89355021:A:T
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.89355022A>T, NC_000011.9:g.89088190A>T, NM_016931.5:c.1157T>A, NM_016931.4:c.1157T>A, NM_016931.3:c.1157T>A, NM_001143836.3:c.1157T>A, NM_001143836.2:c.1157T>A, NM_001143836.1:c.1157T>A, NM_001143837.2:c.1085T>A, NM_001143837.1:c.1085T>A, NM_001291926.2:c.935T>A, NM_001291926.1:c.935T>A, NM_001291929.2:c.1082T>A, NM_001291929.1:c.1082T>A, NR_026571.1:n.1392T>A, NM_001291927.1:c.1220T>A, NM_001300995.1:c.1085T>A, NP_058627.2:p.Leu386Gln, NP_001137308.2:p.Leu386Gln, NP_001137309.2:p.Leu362Gln, NP_001278855.2:p.Leu312Gln, NP_001278858.2:p.Leu361Gln, NP_001278856.1:p.Leu407Gln, NP_001287924.1:p.Leu362Gln

Select item 146548621516.

rs1465486215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:89402495 (GRCh38)
11:89135663 (GRCh37)
Canonical SPDI:: NC_000011.10:89402494:C:A,NC_000011.10:89402494:C:T
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.89402495C>A, NC_000011.10:g.89402495C>T, NC_000011.9:g.89135663C>A, NC_000011.9:g.89135663C>T, NM_016931.5:c.677G>T, NM_016931.5:c.677G>A, NM_016931.4:c.677G>T, NM_016931.4:c.677G>A, NM_016931.3:c.677G>T, NM_016931.3:c.677G>A, NM_001143836.3:c.677G>T, NM_001143836.3:c.677G>A, NM_001143836.2:c.677G>T, NM_001143836.2:c.677G>A, NM_001143836.1:c.677G>T, NM_001143836.1:c.677G>A, XM_017017843.3:c.740G>T, XM_017017843.3:c.740G>A, XM_017017843.2:c.740G>T, XM_017017843.2:c.740G>A, XM_017017843.1:c.740G>T, XM_017017843.1:c.740G>A, NM_001143837.2:c.605G>T, NM_001143837.2:c.605G>A, NM_001143837.1:c.605G>T, NM_001143837.1:c.605G>A, NM_001291926.2:c.455G>T, NM_001291926.2:c.455G>A, NM_001291926.1:c.455G>T, NM_001291926.1:c.455G>A, NM_001291929.2:c.602G>T, NM_001291929.2:c.602G>A, NM_001291929.1:c.602G>T, NM_001291929.1:c.602G>A, NR_026571.1:n.912G>T, NR_026571.1:n.912G>A, NM_001291927.1:c.740G>T, NM_001291927.1:c.740G>A, NM_001300995.1:c.605G>T, NM_001300995.1:c.605G>A, NP_058627.2:p.Cys226Phe, NP_058627.2:p.Cys226Tyr, NP_001137308.2:p.Cys226Phe, NP_001137308.2:p.Cys226Tyr, XP_016873332.1:p.Cys247Phe, XP_016873332.1:p.Cys247Tyr, NP_001137309.2:p.Cys202Phe, NP_001137309.2:p.Cys202Tyr, NP_001278855.2:p.Cys152Phe, NP_001278855.2:p.Cys152Tyr, NP_001278858.2:p.Cys201Phe, NP_001278858.2:p.Cys201Tyr, NP_001278856.1:p.Cys247Phe, NP_001278856.1:p.Cys247Tyr, NP_001287924.1:p.Cys202Phe, NP_001287924.1:p.Cys202Tyr

Select item 146459242917.

rs1464592429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89440690 (GRCh38)
11:89173858 (GRCh37)
Canonical SPDI:: NC_000011.10:89440689:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89440690G>A, NC_000011.9:g.89173858G>A, NM_016931.5:c.473C>T, NM_016931.4:c.473C>T, NM_016931.3:c.473C>T, NM_001143836.3:c.473C>T, NM_001143836.2:c.473C>T, NM_001143836.1:c.473C>T, XM_017017843.3:c.536C>T, XM_017017843.2:c.536C>T, XM_017017843.1:c.536C>T, NM_001143837.2:c.401C>T, NM_001143837.1:c.401C>T, NM_001291926.2:c.251C>T, NM_001291926.1:c.251C>T, NM_001291929.2:c.398C>T, NM_001291929.1:c.398C>T, NR_026571.1:n.708C>T, NM_001291927.1:c.536C>T, NM_001300995.1:c.401C>T, NP_058627.2:p.Thr158Ile, NP_001137308.2:p.Thr158Ile, XP_016873332.1:p.Thr179Ile, NP_001137309.2:p.Thr134Ile, NP_001278855.2:p.Thr84Ile, NP_001278858.2:p.Thr133Ile, NP_001278856.1:p.Thr179Ile, NP_001287924.1:p.Thr134Ile

Select item 146321852818.

rs1463218528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89451790 (GRCh38)
11:89184958 (GRCh37)
Canonical SPDI:: NC_000011.10:89451789:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.89451790G>A, NC_000011.9:g.89184958G>A, NM_016931.5:c.259C>T, NM_016931.4:c.259C>T, NM_016931.3:c.259C>T, NM_001143836.3:c.259C>T, NM_001143836.2:c.259C>T, NM_001143836.1:c.259C>T, XM_017017843.3:c.322C>T, XM_017017843.2:c.322C>T, XM_017017843.1:c.322C>T, NM_001143837.2:c.187C>T, NM_001143837.1:c.187C>T, NM_001291926.2:c.37C>T, NM_001291926.1:c.37C>T, NM_001291929.2:c.184C>T, NM_001291929.1:c.184C>T, NR_026571.1:n.494C>T, NM_001291927.1:c.322C>T, NM_001300995.1:c.187C>T, NP_058627.2:p.Gln87Ter, NP_001137308.2:p.Gln87Ter, XP_016873332.1:p.Gln108Ter, NP_001137309.2:p.Gln63Ter, NP_001278855.2:p.Gln13Ter, NP_001278858.2:p.Gln62Ter, NP_001278856.1:p.Gln108Ter, NP_001287924.1:p.Gln63Ter

Select item 146164270319.

rs1461642703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:89355041 (GRCh38)
11:89088209 (GRCh37)
Canonical SPDI:: NC_000011.10:89355040:G:A
Gene:: NOX4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000011.10:g.89355041G>A, NC_000011.9:g.89088209G>A, NM_016931.5:c.1138C>T, NM_016931.4:c.1138C>T, NM_016931.3:c.1138C>T, NM_001143836.3:c.1138C>T, NM_001143836.2:c.1138C>T, NM_001143836.1:c.1138C>T, XM_017017843.3:c.*37C>T, NM_001143837.2:c.1066C>T, NM_001143837.1:c.1066C>T, NM_001291926.2:c.916C>T, NM_001291926.1:c.916C>T, NM_001291929.2:c.1063C>T, NM_001291929.1:c.1063C>T, NR_026571.1:n.1373C>T, NM_001291927.1:c.1201C>T, NM_001300995.1:c.1066C>T, NP_058627.2:p.Arg380Ter, NP_001137308.2:p.Arg380Ter, NP_001137309.2:p.Arg356Ter, NP_001278855.2:p.Arg306Ter, NP_001278858.2:p.Arg355Ter, NP_001278856.1:p.Arg401Ter, NP_001287924.1:p.Arg356Ter

Select item 146105689520.

rs1461056895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:89490546 (GRCh38)
11:89223714 (GRCh37)
Canonical SPDI:: NC_000011.10:89490545:C:T
Gene:: NOX4 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.89490546C>T, NC_000011.9:g.89223714C>T, NM_016931.5:c.65G>A, NM_016931.4:c.65G>A, NM_016931.3:c.65G>A, NM_001143836.3:c.65G>A, NM_001143836.2:c.65G>A, NM_001143836.1:c.65G>A, XM_017017843.3:c.128G>A, XM_017017843.2:c.128G>A, XM_017017843.1:c.128G>A, NM_001143837.2:c.-8G>A, NM_001143837.1:c.-8G>A, NM_001291926.2:c.-154G>A, NM_001291926.1:c.-154G>A, NR_120406.2:n.194G>A, NR_120406.1:n.384G>A, NR_026571.1:n.304G>A, NM_001291927.1:c.128G>A, NM_001300995.1:c.-8G>A, NP_058627.2:p.Trp22Ter, NP_001137308.2:p.Trp22Ter, XP_016873332.1:p.Trp43Ter, NP_001278856.1:p.Trp43Ter

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