SNP Links for Protein (Select 578831405) - SNP

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Links from Protein

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Select item 14897569541.

rs1489756954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59565712 (GRCh38)
17:57643073 (GRCh37)
Canonical SPDI:: NC_000017.11:59565711:G:A
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59565712G>A, NC_000017.10:g.57643073G>A, NM_024612.5:c.41G>A, NM_024612.4:c.41G>A, XM_006722083.4:c.41G>A, XM_006722083.3:c.41G>A, XM_006722083.2:c.41G>A, XM_006722083.1:c.41G>A, XM_011525253.4:c.41G>A, XM_011525253.3:c.41G>A, XM_011525253.2:c.41G>A, XM_011525253.1:c.41G>A, XM_017025080.3:c.41G>A, XM_017025080.2:c.41G>A, XM_017025080.1:c.41G>A, NM_001166301.2:c.41G>A, NM_001166301.1:c.41G>A, XM_047436758.1:c.41G>A, NP_078888.4:p.Arg14Gln, XP_006722146.1:p.Arg14Gln, XP_011523555.1:p.Arg14Gln, XP_016880569.1:p.Arg14Gln, NP_001159773.1:p.Arg14Gln, XP_047292714.1:p.Arg14Gln

Select item 14897148472.

rs1489714847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59565777 (GRCh38)
17:57643138 (GRCh37)
Canonical SPDI:: NC_000017.11:59565776:G:C
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.59565777G>C, NC_000017.10:g.57643138G>C, NM_024612.5:c.106G>C, NM_024612.4:c.106G>C, XM_006722083.4:c.106G>C, XM_006722083.3:c.106G>C, XM_006722083.2:c.106G>C, XM_006722083.1:c.106G>C, XM_011525253.4:c.106G>C, XM_011525253.3:c.106G>C, XM_011525253.2:c.106G>C, XM_011525253.1:c.106G>C, XM_017025080.3:c.106G>C, XM_017025080.2:c.106G>C, XM_017025080.1:c.106G>C, NM_001166301.2:c.106G>C, NM_001166301.1:c.106G>C, XM_047436758.1:c.106G>C, NP_078888.4:p.Asp36His, XP_006722146.1:p.Asp36His, XP_011523555.1:p.Asp36His, XP_016880569.1:p.Asp36His, NP_001159773.1:p.Asp36His, XP_047292714.1:p.Asp36His

Select item 14896834583.

rs1489683458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59566781 (GRCh38)
17:57644142 (GRCh37)
Canonical SPDI:: NC_000017.11:59566780:T:C
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59566781T>C, NC_000017.10:g.57644142T>C, NM_024612.5:c.267T>C, NM_024612.4:c.267T>C, XM_006722083.4:c.267T>C, XM_006722083.3:c.267T>C, XM_006722083.2:c.267T>C, XM_006722083.1:c.267T>C, XM_011525253.4:c.267T>C, XM_011525253.3:c.267T>C, XM_011525253.2:c.267T>C, XM_011525253.1:c.267T>C

Select item 14896688764.

rs1489668876 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTGTATGCC>- [Show Flanks]
Chromosome:: 17:59579783 (GRCh38)
17:57657144 (GRCh37)
Canonical SPDI:: NC_000017.11:59579780:CCAGTGTATGCC:CC
Gene:: DHX40 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000017.11:g.59579783_59579792del, NC_000017.10:g.57657144_57657153del, NM_024612.5:c.1247_1256del, NM_024612.4:c.1247_1256del, XM_006722083.4:c.1247_1256del, XM_006722083.3:c.1247_1256del, XM_006722083.2:c.1247_1256del, XM_006722083.1:c.1247_1256del, XM_017025080.3:c.1079_1088del, XM_017025080.2:c.1079_1088del, XM_017025080.1:c.1079_1088del, NM_001166301.2:c.1016_1025del, NM_001166301.1:c.1016_1025del, NP_078888.4:p.Gln416fs, XP_006722146.1:p.Gln416fs, XP_016880569.1:p.Gln360fs, NP_001159773.1:p.Gln339fs

Select item 14885475865.

rs1488547586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59587905 (GRCh38)
17:57665266 (GRCh37)
Canonical SPDI:: NC_000017.11:59587904:T:C
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.59587905T>C, NC_000017.10:g.57665266T>C, NM_024612.5:c.1434T>C, NM_024612.4:c.1434T>C, XM_006722083.4:c.1353T>C, XM_006722083.3:c.1353T>C, XM_006722083.2:c.1353T>C, XM_006722083.1:c.1353T>C, XM_011525253.4:c.1251T>C, XM_011525253.3:c.1251T>C, XM_011525253.2:c.1251T>C, XM_011525253.1:c.1251T>C, XM_017025080.3:c.1266T>C, XM_017025080.2:c.1266T>C, XM_017025080.1:c.1266T>C, NM_001166301.2:c.1203T>C, NM_001166301.1:c.1203T>C, XM_047436758.1:c.1083T>C

Select item 14873412766.

rs1487341276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:59579515 (GRCh38)
17:57656876 (GRCh37)
Canonical SPDI:: NC_000017.11:59579514:C:A
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59579515C>A, NC_000017.10:g.57656876C>A, NM_024612.5:c.1117C>A, NM_024612.4:c.1117C>A, XM_006722083.4:c.1117C>A, XM_006722083.3:c.1117C>A, XM_006722083.2:c.1117C>A, XM_006722083.1:c.1117C>A, XM_011525253.4:c.1117C>A, XM_011525253.3:c.1117C>A, XM_011525253.2:c.1117C>A, XM_011525253.1:c.1117C>A, XM_017025080.3:c.949C>A, XM_017025080.2:c.949C>A, XM_017025080.1:c.949C>A, NM_001166301.2:c.886C>A, NM_001166301.1:c.886C>A, XM_047436758.1:c.949C>A, NP_078888.4:p.Pro373Thr, XP_006722146.1:p.Pro373Thr, XP_011523555.1:p.Pro373Thr, XP_016880569.1:p.Pro317Thr, NP_001159773.1:p.Pro296Thr, XP_047292714.1:p.Pro317Thr

Select item 14867778827.

rs1486777882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59573116 (GRCh38)
17:57650477 (GRCh37)
Canonical SPDI:: NC_000017.11:59573115:G:A
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59573116G>A, NC_000017.10:g.57650477G>A, NM_024612.5:c.427G>A, NM_024612.4:c.427G>A, XM_006722083.4:c.427G>A, XM_006722083.3:c.427G>A, XM_006722083.2:c.427G>A, XM_006722083.1:c.427G>A, XM_011525253.4:c.427G>A, XM_011525253.3:c.427G>A, XM_011525253.2:c.427G>A, XM_011525253.1:c.427G>A, XM_017025080.3:c.259G>A, XM_017025080.2:c.259G>A, XM_017025080.1:c.259G>A, NM_001166301.2:c.196G>A, NM_001166301.1:c.196G>A, XM_047436758.1:c.259G>A, NP_078888.4:p.Glu143Lys, XP_006722146.1:p.Glu143Lys, XP_011523555.1:p.Glu143Lys, XP_016880569.1:p.Glu87Lys, NP_001159773.1:p.Glu66Lys, XP_047292714.1:p.Glu87Lys

Select item 14740285028.

rs1474028502 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:59573912 (GRCh38)
17:57651273 (GRCh37)
Canonical SPDI:: NC_000017.11:59573910:AAA:A
Gene:: DHX40 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59573912_59573913del, NC_000017.10:g.57651273_57651274del, NM_024612.5:c.719_720del, NM_024612.4:c.719_720del, XM_006722083.4:c.719_720del, XM_006722083.3:c.719_720del, XM_006722083.2:c.719_720del, XM_006722083.1:c.719_720del, XM_011525253.4:c.719_720del, XM_011525253.3:c.719_720del, XM_011525253.2:c.719_720del, XM_011525253.1:c.719_720del, XM_017025080.3:c.551_552del, XM_017025080.2:c.551_552del, XM_017025080.1:c.551_552del, NM_001166301.2:c.488_489del, NM_001166301.1:c.488_489del, XM_047436758.1:c.551_552del, NP_078888.4:p.Lys240fs, XP_006722146.1:p.Lys240fs, XP_011523555.1:p.Lys240fs, XP_016880569.1:p.Lys184fs, NP_001159773.1:p.Lys163fs, XP_047292714.1:p.Lys184fs

Select item 14729361369.

rs1472936136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59602589 (GRCh38)
17:57679950 (GRCh37)
Canonical SPDI:: NC_000017.11:59602588:C:G
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59602589C>G, NC_000017.10:g.57679950C>G, NM_024612.5:c.1874C>G, NM_024612.4:c.1874C>G, XM_006722083.4:c.1793C>G, XM_006722083.3:c.1793C>G, XM_006722083.2:c.1793C>G, XM_006722083.1:c.1793C>G, XM_011525253.4:c.1691C>G, XM_011525253.3:c.1691C>G, XM_011525253.2:c.1691C>G, XM_011525253.1:c.1691C>G, XM_017025080.3:c.1706C>G, XM_017025080.2:c.1706C>G, XM_017025080.1:c.1706C>G, NM_001166301.2:c.1643C>G, NM_001166301.1:c.1643C>G, XM_047436758.1:c.1523C>G, NP_078888.4:p.Ala625Gly, XP_006722146.1:p.Ala598Gly, XP_011523555.1:p.Ala564Gly, XP_016880569.1:p.Ala569Gly, NP_001159773.1:p.Ala548Gly, XP_047292714.1:p.Ala508Gly

Select item 147255922010.

rs1472559220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59573965 (GRCh38)
17:57651326 (GRCh37)
Canonical SPDI:: NC_000017.11:59573964:G:A
Gene:: DHX40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000112/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59573965G>A, NC_000017.10:g.57651326G>A, NM_024612.5:c.772G>A, NM_024612.4:c.772G>A, XM_006722083.4:c.772G>A, XM_006722083.3:c.772G>A, XM_006722083.2:c.772G>A, XM_006722083.1:c.772G>A, XM_011525253.4:c.772G>A, XM_011525253.3:c.772G>A, XM_011525253.2:c.772G>A, XM_011525253.1:c.772G>A, XM_017025080.3:c.604G>A, XM_017025080.2:c.604G>A, XM_017025080.1:c.604G>A, NM_001166301.2:c.541G>A, NM_001166301.1:c.541G>A, XM_047436758.1:c.604G>A, NP_078888.4:p.Ala258Thr, XP_006722146.1:p.Ala258Thr, XP_011523555.1:p.Ala258Thr, XP_016880569.1:p.Ala202Thr, NP_001159773.1:p.Ala181Thr, XP_047292714.1:p.Ala202Thr

Select item 147250817211.

rs1472508172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:59577297 (GRCh38)
17:57654658 (GRCh37)
Canonical SPDI:: NC_000017.11:59577296:A:C,NC_000017.11:59577296:A:G
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59577297A>C, NC_000017.11:g.59577297A>G, NC_000017.10:g.57654658A>C, NC_000017.10:g.57654658A>G, NM_024612.5:c.1005A>C, NM_024612.5:c.1005A>G, NM_024612.4:c.1005A>C, NM_024612.4:c.1005A>G, XM_006722083.4:c.1005A>C, XM_006722083.4:c.1005A>G, XM_006722083.3:c.1005A>C, XM_006722083.3:c.1005A>G, XM_006722083.2:c.1005A>C, XM_006722083.2:c.1005A>G, XM_006722083.1:c.1005A>C, XM_006722083.1:c.1005A>G, XM_011525253.4:c.1005A>C, XM_011525253.4:c.1005A>G, XM_011525253.3:c.1005A>C, XM_011525253.3:c.1005A>G, XM_011525253.2:c.1005A>C, XM_011525253.2:c.1005A>G, XM_011525253.1:c.1005A>C, XM_011525253.1:c.1005A>G, XM_017025080.3:c.837A>C, XM_017025080.3:c.837A>G, XM_017025080.2:c.837A>C, XM_017025080.2:c.837A>G, XM_017025080.1:c.837A>C, XM_017025080.1:c.837A>G, NM_001166301.2:c.774A>C, NM_001166301.2:c.774A>G, NM_001166301.1:c.774A>C, NM_001166301.1:c.774A>G, XM_047436758.1:c.837A>C, XM_047436758.1:c.837A>G

Select item 147088945612.

rs1470889456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:59565726 (GRCh38)
17:57643087 (GRCh37)
Canonical SPDI:: NC_000017.11:59565725:G:T
Gene:: DHX40 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59565726G>T, NC_000017.10:g.57643087G>T, NM_024612.5:c.55G>T, NM_024612.4:c.55G>T, XM_006722083.4:c.55G>T, XM_006722083.3:c.55G>T, XM_006722083.2:c.55G>T, XM_006722083.1:c.55G>T, XM_011525253.4:c.55G>T, XM_011525253.3:c.55G>T, XM_011525253.2:c.55G>T, XM_011525253.1:c.55G>T, XM_017025080.3:c.55G>T, XM_017025080.2:c.55G>T, XM_017025080.1:c.55G>T, NM_001166301.2:c.55G>T, NM_001166301.1:c.55G>T, XM_047436758.1:c.55G>T, NP_078888.4:p.Glu19Ter, XP_006722146.1:p.Glu19Ter, XP_011523555.1:p.Glu19Ter, XP_016880569.1:p.Glu19Ter, NP_001159773.1:p.Glu19Ter, XP_047292714.1:p.Glu19Ter

Select item 147037029713.

rs1470370297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:59573967 (GRCh38)
17:57651328 (GRCh37)
Canonical SPDI:: NC_000017.11:59573966:G:T
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.59573967G>T, NC_000017.10:g.57651328G>T, NM_024612.5:c.774G>T, NM_024612.4:c.774G>T, XM_006722083.4:c.774G>T, XM_006722083.3:c.774G>T, XM_006722083.2:c.774G>T, XM_006722083.1:c.774G>T, XM_011525253.4:c.774G>T, XM_011525253.3:c.774G>T, XM_011525253.2:c.774G>T, XM_011525253.1:c.774G>T, XM_017025080.3:c.606G>T, XM_017025080.2:c.606G>T, XM_017025080.1:c.606G>T, NM_001166301.2:c.543G>T, NM_001166301.1:c.543G>T, XM_047436758.1:c.606G>T

Select item 146917898914.

rs1469178989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59566757 (GRCh38)
17:57644118 (GRCh37)
Canonical SPDI:: NC_000017.11:59566756:T:G
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59566757T>G, NC_000017.10:g.57644118T>G, NM_024612.5:c.243T>G, NM_024612.4:c.243T>G, XM_006722083.4:c.243T>G, XM_006722083.3:c.243T>G, XM_006722083.2:c.243T>G, XM_006722083.1:c.243T>G, XM_011525253.4:c.243T>G, XM_011525253.3:c.243T>G, XM_011525253.2:c.243T>G, XM_011525253.1:c.243T>G

Select item 146790845215.

rs1467908452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59602563 (GRCh38)
17:57679924 (GRCh37)
Canonical SPDI:: NC_000017.11:59602562:T:C
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59602563T>C, NC_000017.10:g.57679924T>C, NM_024612.5:c.1848T>C, NM_024612.4:c.1848T>C, XM_006722083.4:c.1767T>C, XM_006722083.3:c.1767T>C, XM_006722083.2:c.1767T>C, XM_006722083.1:c.1767T>C, XM_011525253.4:c.1665T>C, XM_011525253.3:c.1665T>C, XM_011525253.2:c.1665T>C, XM_011525253.1:c.1665T>C, XM_017025080.3:c.1680T>C, XM_017025080.2:c.1680T>C, XM_017025080.1:c.1680T>C, NM_001166301.2:c.1617T>C, NM_001166301.1:c.1617T>C, XM_047436758.1:c.1497T>C

Select item 146745668216.

rs1467456682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59605543 (GRCh38)
17:57682904 (GRCh37)
Canonical SPDI:: NC_000017.11:59605542:A:G
Gene:: DHX40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59605543A>G, NC_000017.10:g.57682904A>G, NM_024612.5:c.2069A>G, NM_024612.4:c.2069A>G, XM_006722083.4:c.1988A>G, XM_006722083.3:c.1988A>G, XM_006722083.2:c.1988A>G, XM_006722083.1:c.1988A>G, XM_011525253.4:c.1886A>G, XM_011525253.3:c.1886A>G, XM_011525253.2:c.1886A>G, XM_011525253.1:c.1886A>G, XM_017025080.3:c.1901A>G, XM_017025080.2:c.1901A>G, XM_017025080.1:c.1901A>G, NM_001166301.2:c.1838A>G, NM_001166301.1:c.1838A>G, XM_047436758.1:c.1718A>G, NP_078888.4:p.Glu690Gly, XP_006722146.1:p.Glu663Gly, XP_011523555.1:p.Glu629Gly, XP_016880569.1:p.Glu634Gly, NP_001159773.1:p.Glu613Gly, XP_047292714.1:p.Glu573Gly

Select item 146652180817.

rs1466521808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59602592 (GRCh38)
17:57679953 (GRCh37)
Canonical SPDI:: NC_000017.11:59602591:G:C
Gene:: DHX40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59602592G>C, NC_000017.10:g.57679953G>C, NM_024612.5:c.1877G>C, NM_024612.4:c.1877G>C, XM_006722083.4:c.1796G>C, XM_006722083.3:c.1796G>C, XM_006722083.2:c.1796G>C, XM_006722083.1:c.1796G>C, XM_011525253.4:c.1694G>C, XM_011525253.3:c.1694G>C, XM_011525253.2:c.1694G>C, XM_011525253.1:c.1694G>C, XM_017025080.3:c.1709G>C, XM_017025080.2:c.1709G>C, XM_017025080.1:c.1709G>C, NM_001166301.2:c.1646G>C, NM_001166301.1:c.1646G>C, XM_047436758.1:c.1526G>C, NP_078888.4:p.Gly626Ala, XP_006722146.1:p.Gly599Ala, XP_011523555.1:p.Gly565Ala, XP_016880569.1:p.Gly570Ala, NP_001159773.1:p.Gly549Ala, XP_047292714.1:p.Gly509Ala

Select item 146535861118.

rs1465358611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59575371 (GRCh38)
17:57652732 (GRCh37)
Canonical SPDI:: NC_000017.11:59575370:A:G
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59575371A>G, NC_000017.10:g.57652732A>G, NM_024612.5:c.873A>G, NM_024612.4:c.873A>G, XM_006722083.4:c.873A>G, XM_006722083.3:c.873A>G, XM_006722083.2:c.873A>G, XM_006722083.1:c.873A>G, XM_011525253.4:c.873A>G, XM_011525253.3:c.873A>G, XM_011525253.2:c.873A>G, XM_011525253.1:c.873A>G, XM_017025080.3:c.705A>G, XM_017025080.2:c.705A>G, XM_017025080.1:c.705A>G, NM_001166301.2:c.642A>G, NM_001166301.1:c.642A>G, XM_047436758.1:c.705A>G

Select item 146254856419.

rs1462548564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59573156 (GRCh38)
17:57650517 (GRCh37)
Canonical SPDI:: NC_000017.11:59573155:A:G
Gene:: DHX40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59573156A>G, NC_000017.10:g.57650517A>G, NM_024612.5:c.467A>G, NM_024612.4:c.467A>G, XM_006722083.4:c.467A>G, XM_006722083.3:c.467A>G, XM_006722083.2:c.467A>G, XM_006722083.1:c.467A>G, XM_011525253.4:c.467A>G, XM_011525253.3:c.467A>G, XM_011525253.2:c.467A>G, XM_011525253.1:c.467A>G, XM_017025080.3:c.299A>G, XM_017025080.2:c.299A>G, XM_017025080.1:c.299A>G, NM_001166301.2:c.236A>G, NM_001166301.1:c.236A>G, XM_047436758.1:c.299A>G, NP_078888.4:p.Lys156Arg, XP_006722146.1:p.Lys156Arg, XP_011523555.1:p.Lys156Arg, XP_016880569.1:p.Lys100Arg, NP_001159773.1:p.Lys79Arg, XP_047292714.1:p.Lys100Arg

Select item 146208817320.

rs1462088173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59605619 (GRCh38)
17:57682980 (GRCh37)
Canonical SPDI:: NC_000017.11:59605618:G:A
Gene:: DHX40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59605619G>A, NC_000017.10:g.57682980G>A, NM_024612.5:c.2145G>A, NM_024612.4:c.2145G>A, XM_006722083.4:c.2064G>A, XM_006722083.3:c.2064G>A, XM_006722083.2:c.2064G>A, XM_006722083.1:c.2064G>A, XM_011525253.4:c.1962G>A, XM_011525253.3:c.1962G>A, XM_011525253.2:c.1962G>A, XM_011525253.1:c.1962G>A, XM_017025080.3:c.1977G>A, XM_017025080.2:c.1977G>A, XM_017025080.1:c.1977G>A, NM_001166301.2:c.1914G>A, NM_001166301.1:c.1914G>A, XM_047436758.1:c.1794G>A

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