SNP Links for Protein (Select 1020738472) - SNP

Select item 14893270661.

rs1489327066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95637181 (GRCh38)
10:97396938 (GRCh37)
Canonical SPDI:: NC_000010.11:95637180:T:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0011/2 (Korea1K)
HGVS:: NC_000010.11:g.95637181T>C, NC_000010.10:g.97396938T>C, NG_012258.1:g.24630A>G, NM_002860.4:c.470A>G, NM_002860.3:c.470A>G, NM_001323414.2:c.470A>G, NM_001323414.1:c.470A>G, NM_001323413.2:c.470A>G, NM_001323413.1:c.470A>G, NM_001323415.2:c.470A>G, NM_001323415.1:c.470A>G, NM_001017423.2:c.470A>G, NM_001017423.1:c.470A>G, NM_001323416.2:c.137A>G, NM_001323416.1:c.137A>G, NM_001323418.2:c.137A>G, NM_001323418.1:c.137A>G, NM_001323412.2:c.137A>G, NM_001323412.1:c.137A>G, NP_002851.2:p.Glu157Gly, NP_001310343.1:p.Glu157Gly, NP_001310342.1:p.Glu157Gly, NP_001310344.1:p.Glu157Gly, NP_001017423.1:p.Glu157Gly, NP_001310345.1:p.Glu46Gly, NP_001310347.1:p.Glu46Gly, NP_001310341.1:p.Glu46Gly

Select item 14844865662.

rs1484486566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:95606766 (GRCh38)
10:97366523 (GRCh37)
Canonical SPDI:: NC_000010.11:95606765:T:G
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95606766T>G, NC_000010.10:g.97366523T>G, NG_012258.1:g.55045A>C, NM_002860.4:c.2384A>C, NM_002860.3:c.2384A>C, NM_001323414.2:c.2384A>C, NM_001323414.1:c.2384A>C, NM_001323413.2:c.2384A>C, NM_001323413.1:c.2384A>C, NM_001323415.2:c.2378A>C, NM_001323415.1:c.2378A>C, NM_001017423.2:c.2378A>C, NM_001017423.1:c.2378A>C, NM_001323416.2:c.2051A>C, NM_001323416.1:c.2051A>C, NM_001323418.2:c.2045A>C, NM_001323418.1:c.2045A>C, NM_001323417.2:c.2279A>C, NM_001323417.1:c.2279A>C, NM_001323412.2:c.2051A>C, NM_001323412.1:c.2051A>C, NM_001323419.2:c.1748A>C, NM_001323419.1:c.1748A>C, NP_002851.2:p.Asn795Thr, NP_001310343.1:p.Asn795Thr, NP_001310342.1:p.Asn795Thr, NP_001310344.1:p.Asn793Thr, NP_001017423.1:p.Asn793Thr, NP_001310345.1:p.Asn684Thr, NP_001310347.1:p.Asn682Thr, NP_001310346.1:p.Asn760Thr, NP_001310341.1:p.Asn684Thr, NP_001310348.1:p.Asn583Thr

Select item 14811446873.

rs1481144687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95613819 (GRCh38)
10:97373576 (GRCh37)
Canonical SPDI:: NC_000010.11:95613818:C:T
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.95613819C>T, NC_000010.10:g.97373576C>T, NG_012258.1:g.47992G>A, NM_002860.4:c.1846G>A, NM_002860.3:c.1846G>A, NM_001323414.2:c.1846G>A, NM_001323414.1:c.1846G>A, NM_001323413.2:c.1846G>A, NM_001323413.1:c.1846G>A, NM_001323415.2:c.1840G>A, NM_001323415.1:c.1840G>A, NM_001017423.2:c.1840G>A, NM_001017423.1:c.1840G>A, NM_001323416.2:c.1513G>A, NM_001323416.1:c.1513G>A, NM_001323418.2:c.1507G>A, NM_001323418.1:c.1507G>A, NM_001323417.2:c.1741G>A, NM_001323417.1:c.1741G>A, NM_001323412.2:c.1513G>A, NM_001323412.1:c.1513G>A, NM_001323419.2:c.1210G>A, NM_001323419.1:c.1210G>A, NP_002851.2:p.Glu616Lys, NP_001310343.1:p.Glu616Lys, NP_001310342.1:p.Glu616Lys, NP_001310344.1:p.Glu614Lys, NP_001017423.1:p.Glu614Lys, NP_001310345.1:p.Glu505Lys, NP_001310347.1:p.Glu503Lys, NP_001310346.1:p.Glu581Lys, NP_001310341.1:p.Glu505Lys, NP_001310348.1:p.Glu404Lys

Select item 14783448644.

rs1478344864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:95637403 (GRCh38)
10:97397160 (GRCh37)
Canonical SPDI:: NC_000010.11:95637402:T:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95637403T>A, NC_000010.10:g.97397160T>A, NG_012258.1:g.24408A>T, NM_002860.4:c.337A>T, NM_002860.3:c.337A>T, NM_001323414.2:c.337A>T, NM_001323414.1:c.337A>T, NM_001323413.2:c.337A>T, NM_001323413.1:c.337A>T, NM_001323415.2:c.337A>T, NM_001323415.1:c.337A>T, NM_001017423.2:c.337A>T, NM_001017423.1:c.337A>T, NM_001323416.2:c.4A>T, NM_001323416.1:c.4A>T, NM_001323418.2:c.4A>T, NM_001323418.1:c.4A>T, NM_001323417.2:c.337A>T, NM_001323417.1:c.337A>T, NM_001323412.2:c.4A>T, NM_001323412.1:c.4A>T, NP_002851.2:p.Met113Leu, NP_001310343.1:p.Met113Leu, NP_001310342.1:p.Met113Leu, NP_001310344.1:p.Met113Leu, NP_001017423.1:p.Met113Leu, NP_001310345.1:p.Met2Leu, NP_001310347.1:p.Met2Leu, NP_001310346.1:p.Met113Leu, NP_001310341.1:p.Met2Leu

Select item 14764911535.

rs1476491153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95606891 (GRCh38)
10:97366648 (GRCh37)
Canonical SPDI:: NC_000010.11:95606890:T:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.95606891T>C, NC_000010.10:g.97366648T>C, NG_012258.1:g.54920A>G, NM_002860.4:c.2259A>G, NM_002860.3:c.2259A>G, NM_001323414.2:c.2259A>G, NM_001323414.1:c.2259A>G, NM_001323413.2:c.2259A>G, NM_001323413.1:c.2259A>G, NM_001323415.2:c.2253A>G, NM_001323415.1:c.2253A>G, NM_001017423.2:c.2253A>G, NM_001017423.1:c.2253A>G, NM_001323416.2:c.1926A>G, NM_001323416.1:c.1926A>G, NM_001323418.2:c.1920A>G, NM_001323418.1:c.1920A>G, NM_001323417.2:c.2154A>G, NM_001323417.1:c.2154A>G, NM_001323412.2:c.1926A>G, NM_001323412.1:c.1926A>G, NM_001323419.2:c.1623A>G, NM_001323419.1:c.1623A>G

Select item 14759036546.

rs1475903654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95614090 (GRCh38)
10:97373847 (GRCh37)
Canonical SPDI:: NC_000010.11:95614089:G:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95614090G>A, NC_000010.10:g.97373847G>A, NG_012258.1:g.47721C>T, NM_002860.4:c.1677C>T, NM_002860.3:c.1677C>T, NM_001323414.2:c.1677C>T, NM_001323414.1:c.1677C>T, NM_001323413.2:c.1677C>T, NM_001323413.1:c.1677C>T, NM_001323415.2:c.1671C>T, NM_001323415.1:c.1671C>T, NM_001017423.2:c.1671C>T, NM_001017423.1:c.1671C>T, NM_001323416.2:c.1344C>T, NM_001323416.1:c.1344C>T, NM_001323418.2:c.1338C>T, NM_001323418.1:c.1338C>T, NM_001323417.2:c.1572C>T, NM_001323417.1:c.1572C>T, NM_001323412.2:c.1344C>T, NM_001323412.1:c.1344C>T, NM_001323419.2:c.1041C>T, NM_001323419.1:c.1041C>T

Select item 14752461647.

rs1475246164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:95610251 (GRCh38)
10:97370008 (GRCh37)
Canonical SPDI:: NC_000010.11:95610250:A:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95610251A>C, NC_000010.10:g.97370008A>C, NG_012258.1:g.51560T>G, NM_002860.4:c.2152T>G, NM_002860.3:c.2152T>G, NM_001323414.2:c.2152T>G, NM_001323414.1:c.2152T>G, NM_001323413.2:c.2152T>G, NM_001323413.1:c.2152T>G, NM_001323415.2:c.2146T>G, NM_001323415.1:c.2146T>G, NM_001017423.2:c.2146T>G, NM_001017423.1:c.2146T>G, NM_001323416.2:c.1819T>G, NM_001323416.1:c.1819T>G, NM_001323418.2:c.1813T>G, NM_001323418.1:c.1813T>G, NM_001323417.2:c.2047T>G, NM_001323417.1:c.2047T>G, NM_001323412.2:c.1819T>G, NM_001323412.1:c.1819T>G, NM_001323419.2:c.1516T>G, NM_001323419.1:c.1516T>G, NP_002851.2:p.Cys718Gly, NP_001310343.1:p.Cys718Gly, NP_001310342.1:p.Cys718Gly, NP_001310344.1:p.Cys716Gly, NP_001017423.1:p.Cys716Gly, NP_001310345.1:p.Cys607Gly, NP_001310347.1:p.Cys605Gly, NP_001310346.1:p.Cys683Gly, NP_001310341.1:p.Cys607Gly, NP_001310348.1:p.Cys506Gly

Select item 14740125948.

rs1474012594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95616575 (GRCh38)
10:97376332 (GRCh37)
Canonical SPDI:: NC_000010.11:95616574:G:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.95616575G>A, NC_000010.10:g.97376332G>A, NG_012258.1:g.45236C>T, NM_002860.4:c.1507C>T, NM_002860.3:c.1507C>T, NM_001323414.2:c.1507C>T, NM_001323414.1:c.1507C>T, NM_001323413.2:c.1507C>T, NM_001323413.1:c.1507C>T, NM_001323415.2:c.1501C>T, NM_001323415.1:c.1501C>T, NM_001017423.2:c.1501C>T, NM_001017423.1:c.1501C>T, NM_001323416.2:c.1174C>T, NM_001323416.1:c.1174C>T, NM_001323418.2:c.1168C>T, NM_001323418.1:c.1168C>T, NM_001323417.2:c.1402C>T, NM_001323417.1:c.1402C>T, NM_001323412.2:c.1174C>T, NM_001323412.1:c.1174C>T, NM_001323419.2:c.871C>T, NM_001323419.1:c.871C>T, NP_002851.2:p.Leu503Phe, NP_001310343.1:p.Leu503Phe, NP_001310342.1:p.Leu503Phe, NP_001310344.1:p.Leu501Phe, NP_001017423.1:p.Leu501Phe, NP_001310345.1:p.Leu392Phe, NP_001310347.1:p.Leu390Phe, NP_001310346.1:p.Leu468Phe, NP_001310341.1:p.Leu392Phe, NP_001310348.1:p.Leu291Phe

Select item 14732880419.

rs1473288041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:95613837 (GRCh38)
10:97373594 (GRCh37)
Canonical SPDI:: NC_000010.11:95613836:C:G
Gene:: ALDH18A1 (Varview)
Functional Consequence:: 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_000010.11:g.95613837C>G, NC_000010.10:g.97373594C>G, NG_012258.1:g.47974G>C, NM_002860.4:c.1828G>C, NM_002860.3:c.1828G>C, NM_001323414.2:c.1828G>C, NM_001323414.1:c.1828G>C, NM_001323413.2:c.1828G>C, NM_001323413.1:c.1828G>C, NM_001323415.2:c.1822G>C, NM_001323415.1:c.1822G>C, NM_001017423.2:c.1822G>C, NM_001017423.1:c.1822G>C, NM_001323416.2:c.1495G>C, NM_001323416.1:c.1495G>C, NM_001323418.2:c.1489G>C, NM_001323418.1:c.1489G>C, NM_001323417.2:c.1723G>C, NM_001323417.1:c.1723G>C, NM_001323412.2:c.1495G>C, NM_001323412.1:c.1495G>C, NM_001323419.2:c.1192G>C, NM_001323419.1:c.1192G>C, NP_002851.2:p.Ala610Pro, NP_001310343.1:p.Ala610Pro, NP_001310342.1:p.Ala610Pro, NP_001310344.1:p.Ala608Pro, NP_001017423.1:p.Ala608Pro, NP_001310345.1:p.Ala499Pro, NP_001310347.1:p.Ala497Pro, NP_001310346.1:p.Ala575Pro, NP_001310341.1:p.Ala499Pro, NP_001310348.1:p.Ala398Pro

Select item 146650407010.

rs1466504070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95637292 (GRCh38)
10:97397049 (GRCh37)
Canonical SPDI:: NC_000010.11:95637291:C:T
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95637292C>T, NC_000010.10:g.97397049C>T, NG_012258.1:g.24519G>A, NM_002860.4:c.448G>A, NM_002860.3:c.448G>A, NM_001323414.2:c.448G>A, NM_001323414.1:c.448G>A, NM_001323413.2:c.448G>A, NM_001323413.1:c.448G>A, NM_001323415.2:c.448G>A, NM_001323415.1:c.448G>A, NM_001017423.2:c.448G>A, NM_001017423.1:c.448G>A, NM_001323416.2:c.115G>A, NM_001323416.1:c.115G>A, NM_001323418.2:c.115G>A, NM_001323418.1:c.115G>A, NM_001323417.2:c.448G>A, NM_001323417.1:c.448G>A, NM_001323412.2:c.115G>A, NM_001323412.1:c.115G>A, NP_002851.2:p.Glu150Lys, NP_001310343.1:p.Glu150Lys, NP_001310342.1:p.Glu150Lys, NP_001310344.1:p.Glu150Lys, NP_001017423.1:p.Glu150Lys, NP_001310345.1:p.Glu39Lys, NP_001310347.1:p.Glu39Lys, NP_001310346.1:p.Glu150Lys, NP_001310341.1:p.Glu39Lys

Select item 146540765311.

rs1465407653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95621236 (GRCh38)
10:97380993 (GRCh37)
Canonical SPDI:: NC_000010.11:95621235:G:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95621236G>A, NC_000010.10:g.97380993G>A, NG_012258.1:g.40575C>T, NM_002860.4:c.1262C>T, NM_002860.3:c.1262C>T, NM_001323414.2:c.1262C>T, NM_001323414.1:c.1262C>T, NM_001323413.2:c.1262C>T, NM_001323413.1:c.1262C>T, NM_001323415.2:c.1256C>T, NM_001323415.1:c.1256C>T, NM_001017423.2:c.1256C>T, NM_001017423.1:c.1256C>T, NM_001323416.2:c.929C>T, NM_001323416.1:c.929C>T, NM_001323418.2:c.923C>T, NM_001323418.1:c.923C>T, NM_001323417.2:c.1157C>T, NM_001323417.1:c.1157C>T, NM_001323412.2:c.929C>T, NM_001323412.1:c.929C>T, NM_001323419.2:c.626C>T, NM_001323419.1:c.626C>T, NP_002851.2:p.Pro421Leu, NP_001310343.1:p.Pro421Leu, NP_001310342.1:p.Pro421Leu, NP_001310344.1:p.Pro419Leu, NP_001017423.1:p.Pro419Leu, NP_001310345.1:p.Pro310Leu, NP_001310347.1:p.Pro308Leu, NP_001310346.1:p.Pro386Leu, NP_001310341.1:p.Pro310Leu, NP_001310348.1:p.Pro209Leu

Select item 146415951912.

rs1464159519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95627494 (GRCh38)
10:97387251 (GRCh37)
Canonical SPDI:: NC_000010.11:95627493:G:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.95627494G>A, NC_000010.10:g.97387251G>A, NG_012258.1:g.34317C>T, NM_002860.4:c.1026C>T, NM_002860.3:c.1026C>T, NM_001323414.2:c.1026C>T, NM_001323414.1:c.1026C>T, NM_001323413.2:c.1026C>T, NM_001323413.1:c.1026C>T, NM_001323415.2:c.1020C>T, NM_001323415.1:c.1020C>T, NM_001017423.2:c.1020C>T, NM_001017423.1:c.1020C>T, NM_001323416.2:c.693C>T, NM_001323416.1:c.693C>T, NM_001323418.2:c.687C>T, NM_001323418.1:c.687C>T, NM_001323417.2:c.921C>T, NM_001323417.1:c.921C>T, NM_001323412.2:c.693C>T, NM_001323412.1:c.693C>T, NM_001323419.2:c.390C>T, NM_001323419.1:c.390C>T

Select item 146338883813.

rs1463388838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95637326 (GRCh38)
10:97397083 (GRCh37)
Canonical SPDI:: NC_000010.11:95637325:C:T
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.95637326C>T, NC_000010.10:g.97397083C>T, NG_012258.1:g.24485G>A, NM_002860.4:c.414G>A, NM_002860.3:c.414G>A, NM_001323414.2:c.414G>A, NM_001323414.1:c.414G>A, NM_001323413.2:c.414G>A, NM_001323413.1:c.414G>A, NM_001323415.2:c.414G>A, NM_001323415.1:c.414G>A, NM_001017423.2:c.414G>A, NM_001017423.1:c.414G>A, NM_001323416.2:c.81G>A, NM_001323416.1:c.81G>A, NM_001323418.2:c.81G>A, NM_001323418.1:c.81G>A, NM_001323417.2:c.414G>A, NM_001323417.1:c.414G>A, NM_001323412.2:c.81G>A, NM_001323412.1:c.81G>A

Select item 146295706714.

rs1462957067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95621172 (GRCh38)
10:97380929 (GRCh37)
Canonical SPDI:: NC_000010.11:95621171:C:T
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95621172C>T, NC_000010.10:g.97380929C>T, NG_012258.1:g.40639G>A, NM_002860.4:c.1326G>A, NM_002860.3:c.1326G>A, NM_001323414.2:c.1326G>A, NM_001323414.1:c.1326G>A, NM_001323413.2:c.1326G>A, NM_001323413.1:c.1326G>A, NM_001323415.2:c.1320G>A, NM_001323415.1:c.1320G>A, NM_001017423.2:c.1320G>A, NM_001017423.1:c.1320G>A, NM_001323416.2:c.993G>A, NM_001323416.1:c.993G>A, NM_001323418.2:c.987G>A, NM_001323418.1:c.987G>A, NM_001323417.2:c.1221G>A, NM_001323417.1:c.1221G>A, NM_001323412.2:c.993G>A, NM_001323412.1:c.993G>A, NM_001323419.2:c.690G>A, NM_001323419.1:c.690G>A

Select item 146255916115.

rs1462559161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:95606857 (GRCh38)
10:97366614 (GRCh37)
Canonical SPDI:: NC_000010.11:95606856:G:A
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: conflicting-interpretations-of-pathogenicity,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.95606857G>A, NC_000010.10:g.97366614G>A, NG_012258.1:g.54954C>T, NM_002860.4:c.2293C>T, NM_002860.3:c.2293C>T, NM_001323414.2:c.2293C>T, NM_001323414.1:c.2293C>T, NM_001323413.2:c.2293C>T, NM_001323413.1:c.2293C>T, NM_001323415.2:c.2287C>T, NM_001323415.1:c.2287C>T, NM_001017423.2:c.2287C>T, NM_001017423.1:c.2287C>T, NM_001323416.2:c.1960C>T, NM_001323416.1:c.1960C>T, NM_001323418.2:c.1954C>T, NM_001323418.1:c.1954C>T, NM_001323417.2:c.2188C>T, NM_001323417.1:c.2188C>T, NM_001323412.2:c.1960C>T, NM_001323412.1:c.1960C>T, NM_001323419.2:c.1657C>T, NM_001323419.1:c.1657C>T, NP_002851.2:p.Arg765Ter, NP_001310343.1:p.Arg765Ter, NP_001310342.1:p.Arg765Ter, NP_001310344.1:p.Arg763Ter, NP_001017423.1:p.Arg763Ter, NP_001310345.1:p.Arg654Ter, NP_001310347.1:p.Arg652Ter, NP_001310346.1:p.Arg730Ter, NP_001310341.1:p.Arg654Ter, NP_001310348.1:p.Arg553Ter

Select item 146206660216.

rs1462066602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:95616591 (GRCh38)
10:97376348 (GRCh37)
Canonical SPDI:: NC_000010.11:95616590:A:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95616591A>C, NC_000010.10:g.97376348A>C, NG_012258.1:g.45220T>G, NM_002860.4:c.1491T>G, NM_002860.3:c.1491T>G, NM_001323414.2:c.1491T>G, NM_001323414.1:c.1491T>G, NM_001323413.2:c.1491T>G, NM_001323413.1:c.1491T>G, NM_001323415.2:c.1485T>G, NM_001323415.1:c.1485T>G, NM_001017423.2:c.1485T>G, NM_001017423.1:c.1485T>G, NM_001323416.2:c.1158T>G, NM_001323416.1:c.1158T>G, NM_001323418.2:c.1152T>G, NM_001323418.1:c.1152T>G, NM_001323417.2:c.1386T>G, NM_001323417.1:c.1386T>G, NM_001323412.2:c.1158T>G, NM_001323412.1:c.1158T>G, NM_001323419.2:c.855T>G, NM_001323419.1:c.855T>G, NP_002851.2:p.Ser497Arg, NP_001310343.1:p.Ser497Arg, NP_001310342.1:p.Ser497Arg, NP_001310344.1:p.Ser495Arg, NP_001017423.1:p.Ser495Arg, NP_001310345.1:p.Ser386Arg, NP_001310347.1:p.Ser384Arg, NP_001310346.1:p.Ser462Arg, NP_001310341.1:p.Ser386Arg, NP_001310348.1:p.Ser285Arg

Select item 146197800317.

rs1461978003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95614031 (GRCh38)
10:97373788 (GRCh37)
Canonical SPDI:: NC_000010.11:95614030:T:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.95614031T>C, NC_000010.10:g.97373788T>C, NG_012258.1:g.47780A>G, NM_002860.4:c.1736A>G, NM_002860.3:c.1736A>G, NM_001323414.2:c.1736A>G, NM_001323414.1:c.1736A>G, NM_001323413.2:c.1736A>G, NM_001323413.1:c.1736A>G, NM_001323415.2:c.1730A>G, NM_001323415.1:c.1730A>G, NM_001017423.2:c.1730A>G, NM_001017423.1:c.1730A>G, NM_001323416.2:c.1403A>G, NM_001323416.1:c.1403A>G, NM_001323418.2:c.1397A>G, NM_001323418.1:c.1397A>G, NM_001323417.2:c.1631A>G, NM_001323417.1:c.1631A>G, NM_001323412.2:c.1403A>G, NM_001323412.1:c.1403A>G, NM_001323419.2:c.1100A>G, NM_001323419.1:c.1100A>G, NP_002851.2:p.His579Arg, NP_001310343.1:p.His579Arg, NP_001310342.1:p.His579Arg, NP_001310344.1:p.His577Arg, NP_001017423.1:p.His577Arg, NP_001310345.1:p.His468Arg, NP_001310347.1:p.His466Arg, NP_001310346.1:p.His544Arg, NP_001310341.1:p.His468Arg, NP_001310348.1:p.His367Arg

Select item 146144170418.

rs1461441704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:95626758 (GRCh38)
10:97386515 (GRCh37)
Canonical SPDI:: NC_000010.11:95626757:T:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95626758T>C, NC_000010.10:g.97386515T>C, NG_012258.1:g.35053A>G, NM_002860.4:c.1097A>G, NM_002860.3:c.1097A>G, NM_001323414.2:c.1097A>G, NM_001323414.1:c.1097A>G, NM_001323413.2:c.1097A>G, NM_001323413.1:c.1097A>G, NM_001323415.2:c.1091A>G, NM_001323415.1:c.1091A>G, NM_001017423.2:c.1091A>G, NM_001017423.1:c.1091A>G, NM_001323416.2:c.764A>G, NM_001323416.1:c.764A>G, NM_001323418.2:c.758A>G, NM_001323418.1:c.758A>G, NM_001323417.2:c.992A>G, NM_001323417.1:c.992A>G, NM_001323412.2:c.764A>G, NM_001323412.1:c.764A>G, NM_001323419.2:c.461A>G, NM_001323419.1:c.461A>G, NP_002851.2:p.Gln366Arg, NP_001310343.1:p.Gln366Arg, NP_001310342.1:p.Gln366Arg, NP_001310344.1:p.Gln364Arg, NP_001017423.1:p.Gln364Arg, NP_001310345.1:p.Gln255Arg, NP_001310347.1:p.Gln253Arg, NP_001310346.1:p.Gln331Arg, NP_001310341.1:p.Gln255Arg, NP_001310348.1:p.Gln154Arg

Select item 145957515919.

rs1459575159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:95606782 (GRCh38)
10:97366539 (GRCh37)
Canonical SPDI:: NC_000010.11:95606781:G:C
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.95606782G>C, NC_000010.10:g.97366539G>C, NG_012258.1:g.55029C>G, NM_002860.4:c.2368C>G, NM_002860.3:c.2368C>G, NM_001323414.2:c.2368C>G, NM_001323414.1:c.2368C>G, NM_001323413.2:c.2368C>G, NM_001323413.1:c.2368C>G, NM_001323415.2:c.2362C>G, NM_001323415.1:c.2362C>G, NM_001017423.2:c.2362C>G, NM_001017423.1:c.2362C>G, NM_001323416.2:c.2035C>G, NM_001323416.1:c.2035C>G, NM_001323418.2:c.2029C>G, NM_001323418.1:c.2029C>G, NM_001323417.2:c.2263C>G, NM_001323417.1:c.2263C>G, NM_001323412.2:c.2035C>G, NM_001323412.1:c.2035C>G, NM_001323419.2:c.1732C>G, NM_001323419.1:c.1732C>G, NP_002851.2:p.Pro790Ala, NP_001310343.1:p.Pro790Ala, NP_001310342.1:p.Pro790Ala, NP_001310344.1:p.Pro788Ala, NP_001017423.1:p.Pro788Ala, NP_001310345.1:p.Pro679Ala, NP_001310347.1:p.Pro677Ala, NP_001310346.1:p.Pro755Ala, NP_001310341.1:p.Pro679Ala, NP_001310348.1:p.Pro578Ala

Select item 145657527620.

rs1456575276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:95628425 (GRCh38)
10:97388182 (GRCh37)
Canonical SPDI:: NC_000010.11:95628424:C:T
Gene:: ALDH18A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.95628425C>T, NC_000010.10:g.97388182C>T, NG_012258.1:g.33386G>A, NM_002860.4:c.876G>A, NM_002860.3:c.876G>A, NM_001323414.2:c.876G>A, NM_001323414.1:c.876G>A, NM_001323413.2:c.876G>A, NM_001323413.1:c.876G>A, NM_001323415.2:c.870G>A, NM_001323415.1:c.870G>A, NM_001017423.2:c.870G>A, NM_001017423.1:c.870G>A, NM_001323416.2:c.543G>A, NM_001323416.1:c.543G>A, NM_001323418.2:c.537G>A, NM_001323418.1:c.537G>A, NM_001323417.2:c.771G>A, NM_001323417.1:c.771G>A, NM_001323412.2:c.543G>A, NM_001323412.1:c.543G>A, NM_001323419.2:c.240G>A, NM_001323419.1:c.240G>A

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