SNP Links for Protein (Select 300796551) - SNP

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Links from Protein

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Select item 14883549821.

rs1488354982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69616554 (GRCh38)
X:68836398 (GRCh37)
Canonical SPDI:: NC_000023.11:69616553:C:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69616554C>T, NC_000023.10:g.68836398C>T, NG_009809.2:g.5488C>T, NM_001399.5:c.246C>T, NM_001399.4:c.246C>T, NM_001005613.4:c.246C>T, NM_001005613.3:c.246C>T, NM_001005613.2:c.246C>T, NM_001005610.4:c.246C>T, NM_001005610.3:c.246C>T, NM_001005610.2:c.246C>T, NM_001005612.3:c.246C>T, NM_001005612.2:c.246C>T, NM_001005609.2:c.246C>T, NM_001005609.1:c.246C>T, XM_006724630.3:c.246C>T, XM_006724630.2:c.246C>T, XM_006724630.1:c.246C>T, XM_011530885.3:c.246C>T, XM_011530885.2:c.246C>T, XM_011530885.1:c.246C>T, XM_017029337.2:c.246C>T, XM_017029337.1:c.246C>T, XR_001755660.2:n.442C>T, XR_001755660.1:n.469C>T, XM_017029336.2:c.246C>T, XM_017029336.1:c.246C>T, NM_001005614.1:c.246C>T, NM_001005611.1:c.246C>T, NM_001005615.1:c.246C>T

Select item 14880120132.

rs1488012013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:70027860 (GRCh38)
X:69247710 (GRCh37)
Canonical SPDI:: NC_000023.11:70027859:A:G
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70027860A>G, NC_000023.10:g.69247710A>G, NG_009809.2:g.416794A>G, NM_001399.5:c.530A>G, NM_001399.4:c.530A>G, NM_001005612.3:c.530A>G, NM_001005612.2:c.530A>G, NM_001005609.2:c.530A>G, NM_001005609.1:c.530A>G, XM_006724630.3:c.530A>G, XM_006724630.2:c.530A>G, XM_006724630.1:c.530A>G, XM_011530885.3:c.530A>G, XM_011530885.2:c.530A>G, XM_011530885.1:c.530A>G, XM_017029336.2:c.530A>G, XM_017029336.1:c.530A>G, NP_001390.1:p.Lys177Arg, NP_001005612.2:p.Lys177Arg, NP_001005609.1:p.Lys177Arg, XP_006724693.1:p.Lys177Arg, XP_011529187.1:p.Lys177Arg, XP_016884825.1:p.Lys177Arg

Select item 14868635593.

rs1486863559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70028012 (GRCh38)
X:69247862 (GRCh37)
Canonical SPDI:: NC_000023.11:70028011:C:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000023.11:g.70028012C>T, NC_000023.10:g.69247862C>T, NG_009809.2:g.416946C>T, NM_001399.5:c.682C>T, NM_001399.4:c.682C>T, NM_001005612.3:c.682C>T, NM_001005612.2:c.682C>T, NM_001005609.2:c.682C>T, NM_001005609.1:c.682C>T, XM_006724630.3:c.682C>T, XM_006724630.2:c.682C>T, XM_006724630.1:c.682C>T, XM_011530885.3:c.682C>T, XM_011530885.2:c.682C>T, XM_011530885.1:c.682C>T, XM_017029336.2:c.682C>T, XM_017029336.1:c.682C>T, NP_001390.1:p.Pro228Ser, NP_001005612.2:p.Pro228Ser, NP_001005609.1:p.Pro228Ser, XP_006724693.1:p.Pro228Ser, XP_011529187.1:p.Pro228Ser, XP_016884825.1:p.Pro228Ser

Select item 14824721574.

rs1482472157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69957067 (GRCh38)
X:69176917 (GRCh37)
Canonical SPDI:: NC_000023.11:69957066:A:G
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.69957067A>G, NC_000023.10:g.69176917A>G, NG_009809.2:g.346001A>G, NM_001399.5:c.437A>G, NM_001399.4:c.437A>G, NM_001005612.3:c.437A>G, NM_001005612.2:c.437A>G, NM_001005609.2:c.437A>G, NM_001005609.1:c.437A>G, XM_006724630.3:c.437A>G, XM_006724630.2:c.437A>G, XM_006724630.1:c.437A>G, XM_011530885.3:c.437A>G, XM_011530885.2:c.437A>G, XM_011530885.1:c.437A>G, XM_017029336.2:c.437A>G, XM_017029336.1:c.437A>G, NM_001005614.1:c.*366A>G, NP_001390.1:p.Tyr146Cys, NP_001005612.2:p.Tyr146Cys, NP_001005609.1:p.Tyr146Cys, XP_006724693.1:p.Tyr146Cys, XP_011529187.1:p.Tyr146Cys, XP_016884825.1:p.Tyr146Cys

Select item 14818944195.

rs1481894419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69616563 (GRCh38)
X:68836407 (GRCh37)
Canonical SPDI:: NC_000023.11:69616562:C:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.69616563C>T, NC_000023.10:g.68836407C>T, NG_009809.2:g.5497C>T, NM_001399.5:c.255C>T, NM_001399.4:c.255C>T, NM_001005613.4:c.255C>T, NM_001005613.3:c.255C>T, NM_001005613.2:c.255C>T, NM_001005610.4:c.255C>T, NM_001005610.3:c.255C>T, NM_001005610.2:c.255C>T, NM_001005612.3:c.255C>T, NM_001005612.2:c.255C>T, NM_001005609.2:c.255C>T, NM_001005609.1:c.255C>T, XM_006724630.3:c.255C>T, XM_006724630.2:c.255C>T, XM_006724630.1:c.255C>T, XM_011530885.3:c.255C>T, XM_011530885.2:c.255C>T, XM_011530885.1:c.255C>T, XM_017029337.2:c.255C>T, XM_017029337.1:c.255C>T, XR_001755660.2:n.451C>T, XR_001755660.1:n.478C>T, XM_017029336.2:c.255C>T, XM_017029336.1:c.255C>T, NM_001005614.1:c.255C>T, NM_001005611.1:c.255C>T, NM_001005615.1:c.255C>T

Select item 14799622706.

rs1479962270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70027892 (GRCh38)
X:69247742 (GRCh37)
Canonical SPDI:: NC_000023.11:70027891:C:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.70027892C>T, NC_000023.10:g.69247742C>T, NG_009809.2:g.416826C>T, NM_001399.5:c.562C>T, NM_001399.4:c.562C>T, NM_001005612.3:c.562C>T, NM_001005612.2:c.562C>T, NM_001005609.2:c.562C>T, NM_001005609.1:c.562C>T, XM_006724630.3:c.562C>T, XM_006724630.2:c.562C>T, XM_006724630.1:c.562C>T, XM_011530885.3:c.562C>T, XM_011530885.2:c.562C>T, XM_011530885.1:c.562C>T, XM_017029336.2:c.562C>T, XM_017029336.1:c.562C>T, NP_001390.1:p.Pro188Ser, NP_001005612.2:p.Pro188Ser, NP_001005609.1:p.Pro188Ser, XP_006724693.1:p.Pro188Ser, XP_011529187.1:p.Pro188Ser, XP_016884825.1:p.Pro188Ser

Select item 14763952877.

rs1476395287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:69616338 (GRCh38)
X:68836182 (GRCh37)
Canonical SPDI:: NC_000023.11:69616337:A:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69616338A>T, NC_000023.10:g.68836182A>T, NG_009809.2:g.5272A>T, NM_001399.5:c.30A>T, NM_001399.4:c.30A>T, NM_001005613.4:c.30A>T, NM_001005613.3:c.30A>T, NM_001005613.2:c.30A>T, NM_001005610.4:c.30A>T, NM_001005610.3:c.30A>T, NM_001005610.2:c.30A>T, NM_001005612.3:c.30A>T, NM_001005612.2:c.30A>T, NM_001005609.2:c.30A>T, NM_001005609.1:c.30A>T, XM_006724630.3:c.30A>T, XM_006724630.2:c.30A>T, XM_006724630.1:c.30A>T, XM_011530885.3:c.30A>T, XM_011530885.2:c.30A>T, XM_011530885.1:c.30A>T, XM_017029337.2:c.30A>T, XM_017029337.1:c.30A>T, XR_001755660.2:n.226A>T, XR_001755660.1:n.253A>T, XM_017029336.2:c.30A>T, XM_017029336.1:c.30A>T, NM_001005614.1:c.30A>T, NM_001005611.1:c.30A>T, NM_001005615.1:c.30A>T, NP_001390.1:p.Glu10Asp, NP_001005613.1:p.Glu10Asp, NP_001005610.2:p.Glu10Asp, NP_001005612.2:p.Glu10Asp, NP_001005609.1:p.Glu10Asp, XP_006724693.1:p.Glu10Asp, XP_011529187.1:p.Glu10Asp, XP_016884826.1:p.Glu10Asp, XP_016884825.1:p.Glu10Asp

Select item 14716425878.

rs1471642587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:70033471 (GRCh38)
X:69253321 (GRCh37)
Canonical SPDI:: NC_000023.11:70033470:C:A,NC_000023.11:70033470:C:T
Gene:: EDA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70033471C>A, NC_000023.11:g.70033471C>T, NC_000023.10:g.69253321C>A, NC_000023.10:g.69253321C>T, NG_009809.2:g.422405C>A, NG_009809.2:g.422405C>T, NM_001399.5:c.867C>A, NM_001399.5:c.867C>T, NM_001399.4:c.867C>A, NM_001399.4:c.867C>T, NM_001005612.3:c.858C>A, NM_001005612.3:c.858C>T, NM_001005612.2:c.858C>A, NM_001005612.2:c.858C>T, NM_001005609.2:c.867C>A, NM_001005609.2:c.867C>T, NM_001005609.1:c.867C>A, NM_001005609.1:c.867C>T, XM_006724630.3:c.858C>A, XM_006724630.3:c.858C>T, XM_006724630.2:c.858C>A, XM_006724630.2:c.858C>T, XM_006724630.1:c.858C>A, XM_006724630.1:c.858C>T, XM_011530885.3:c.867C>A, XM_011530885.3:c.867C>T, XM_011530885.2:c.867C>A, XM_011530885.2:c.867C>T, XM_011530885.1:c.867C>A, XM_011530885.1:c.867C>T, XM_017029336.2:c.867C>A, XM_017029336.2:c.867C>T, XM_017029336.1:c.867C>A, XM_017029336.1:c.867C>T

Select item 14700712039.

rs1470071203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:70029528 (GRCh38)
X:69249378 (GRCh37)
Canonical SPDI:: NC_000023.11:70029527:G:A,NC_000023.11:70029527:G:C
Gene:: EDA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.70029528G>A, NC_000023.11:g.70029528G>C, NC_000023.10:g.69249378G>A, NC_000023.10:g.69249378G>C, NG_009809.2:g.418462G>A, NG_009809.2:g.418462G>C, NM_001399.5:c.731G>A, NM_001399.5:c.731G>C, NM_001399.4:c.731G>A, NM_001399.4:c.731G>C, NM_001005612.3:c.731G>A, NM_001005612.3:c.731G>C, NM_001005612.2:c.731G>A, NM_001005612.2:c.731G>C, NM_001005609.2:c.731G>A, NM_001005609.2:c.731G>C, NM_001005609.1:c.731G>A, NM_001005609.1:c.731G>C, XM_006724630.3:c.731G>A, XM_006724630.3:c.731G>C, XM_006724630.2:c.731G>A, XM_006724630.2:c.731G>C, XM_006724630.1:c.731G>A, XM_006724630.1:c.731G>C, XM_011530885.3:c.731G>A, XM_011530885.3:c.731G>C, XM_011530885.2:c.731G>A, XM_011530885.2:c.731G>C, XM_011530885.1:c.731G>A, XM_011530885.1:c.731G>C, XM_017029336.2:c.731G>A, XM_017029336.2:c.731G>C, XM_017029336.1:c.731G>A, XM_017029336.1:c.731G>C, NP_001390.1:p.Arg244Gln, NP_001390.1:p.Arg244Pro, NP_001005612.2:p.Arg244Gln, NP_001005612.2:p.Arg244Pro, NP_001005609.1:p.Arg244Gln, NP_001005609.1:p.Arg244Pro, XP_006724693.1:p.Arg244Gln, XP_006724693.1:p.Arg244Pro, XP_011529187.1:p.Arg244Gln, XP_011529187.1:p.Arg244Pro, XP_016884825.1:p.Arg244Gln, XP_016884825.1:p.Arg244Pro

Select item 146827998510.

rs1468279985 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGGTCCTC>- [Show Flanks]
Chromosome:: X:70027998 (GRCh38)
X:69247848 (GRCh37)
Canonical SPDI:: NC_000023.11:70027990:GGTCCTCCTGGTCCTC:GGTCCTC
Gene:: EDA (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGTCCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70027998_70028006del, NC_000023.10:g.69247848_69247856del, NG_009809.2:g.416932_416940del, NM_001399.5:c.668_676del, NM_001399.4:c.668_676del, NM_001005612.3:c.668_676del, NM_001005612.2:c.668_676del, NM_001005609.2:c.668_676del, NM_001005609.1:c.668_676del, XM_006724630.3:c.668_676del, XM_006724630.2:c.668_676del, XM_006724630.1:c.668_676del, XM_011530885.3:c.668_676del, XM_011530885.2:c.668_676del, XM_011530885.1:c.668_676del, XM_017029336.2:c.668_676del, XM_017029336.1:c.668_676del, NP_001390.1:p.217PGP[2], NP_001005612.2:p.217PGP[2], NP_001005609.1:p.217PGP[2], XP_006724693.1:p.217PGP[2], XP_011529187.1:p.217PGP[2], XP_016884825.1:p.217PGP[2]

Select item 146349149411.

rs1463491494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:70027874 (GRCh38)
X:69247724 (GRCh37)
Canonical SPDI:: NC_000023.11:70027873:C:G
Gene:: EDA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70027874C>G, NC_000023.10:g.69247724C>G, NG_009809.2:g.416808C>G, NM_001399.5:c.544C>G, NM_001399.4:c.544C>G, NM_001005612.3:c.544C>G, NM_001005612.2:c.544C>G, NM_001005609.2:c.544C>G, NM_001005609.1:c.544C>G, XM_006724630.3:c.544C>G, XM_006724630.2:c.544C>G, XM_006724630.1:c.544C>G, XM_011530885.3:c.544C>G, XM_011530885.2:c.544C>G, XM_011530885.1:c.544C>G, XM_017029336.2:c.544C>G, XM_017029336.1:c.544C>G, NP_001390.1:p.Pro182Ala, NP_001005612.2:p.Pro182Ala, NP_001005609.1:p.Pro182Ala, XP_006724693.1:p.Pro182Ala, XP_011529187.1:p.Pro182Ala, XP_016884825.1:p.Pro182Ala

Select item 145868493112.

rs1458684931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:70027899 (GRCh38)
X:69247749 (GRCh37)
Canonical SPDI:: NC_000023.11:70027898:C:A
Gene:: EDA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70027899C>A, NC_000023.10:g.69247749C>A, NG_009809.2:g.416833C>A, NM_001399.5:c.569C>A, NM_001399.4:c.569C>A, NM_001005612.3:c.569C>A, NM_001005612.2:c.569C>A, NM_001005609.2:c.569C>A, NM_001005609.1:c.569C>A, XM_006724630.3:c.569C>A, XM_006724630.2:c.569C>A, XM_006724630.1:c.569C>A, XM_011530885.3:c.569C>A, XM_011530885.2:c.569C>A, XM_011530885.1:c.569C>A, XM_017029336.2:c.569C>A, XM_017029336.1:c.569C>A, NP_001390.1:p.Pro190His, NP_001005612.2:p.Pro190His, NP_001005609.1:p.Pro190His, XP_006724693.1:p.Pro190His, XP_011529187.1:p.Pro190His, XP_016884825.1:p.Pro190His

Select item 145429973013.

rs1454299730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:70035369 (GRCh38)
X:69255219 (GRCh37)
Canonical SPDI:: NC_000023.11:70035368:C:A
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000023.11:g.70035369C>A, NC_000023.10:g.69255219C>A, NG_009809.2:g.424303C>A, NM_001399.5:c.936C>A, NM_001399.4:c.936C>A, NM_001005612.3:c.921C>A, NM_001005612.2:c.921C>A, NM_001005609.2:c.930C>A, NM_001005609.1:c.930C>A, XM_006724630.3:c.927C>A, XM_006724630.2:c.927C>A, XM_006724630.1:c.927C>A, XM_017029336.2:c.894C>A, XM_017029336.1:c.894C>A

Select item 145381342714.

rs1453813427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70035504 (GRCh38)
X:69255354 (GRCh37)
Canonical SPDI:: NC_000023.11:70035503:G:A
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70035504G>A, NC_000023.10:g.69255354G>A, NG_009809.2:g.424438G>A, NM_001399.5:c.1071G>A, NM_001399.4:c.1071G>A, NM_001005612.3:c.1056G>A, NM_001005612.2:c.1056G>A, NM_001005609.2:c.1065G>A, NM_001005609.1:c.1065G>A, XM_006724630.3:c.1062G>A, XM_006724630.2:c.1062G>A, XM_006724630.1:c.1062G>A, XM_017029336.2:c.1029G>A, XM_017029336.1:c.1029G>A

Select item 145126209615.

rs1451262096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69616650 (GRCh38)
X:68836494 (GRCh37)
Canonical SPDI:: NC_000023.11:69616649:G:A
Gene:: EDA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.69616650G>A, NC_000023.10:g.68836494G>A, NG_009809.2:g.5584G>A, NM_001399.5:c.342G>A, NM_001399.4:c.342G>A, NM_001005613.4:c.342G>A, NM_001005613.3:c.342G>A, NM_001005613.2:c.342G>A, NM_001005610.4:c.342G>A, NM_001005610.3:c.342G>A, NM_001005610.2:c.342G>A, NM_001005612.3:c.342G>A, NM_001005612.2:c.342G>A, NM_001005609.2:c.342G>A, NM_001005609.1:c.342G>A, XM_006724630.3:c.342G>A, XM_006724630.2:c.342G>A, XM_006724630.1:c.342G>A, XM_011530885.3:c.342G>A, XM_011530885.2:c.342G>A, XM_011530885.1:c.342G>A, XM_017029337.2:c.342G>A, XM_017029337.1:c.342G>A, XR_001755660.2:n.538G>A, XR_001755660.1:n.565G>A, XM_017029336.2:c.342G>A, XM_017029336.1:c.342G>A, NM_001005614.1:c.342G>A, NM_001005611.1:c.342G>A, NM_001005615.1:c.342G>A

Select item 145118115016.

rs1451181150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:69616699 (GRCh38)
X:68836543 (GRCh37)
Canonical SPDI:: NC_000023.11:69616698:C:A
Gene:: EDA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69616699C>A, NC_000023.10:g.68836543C>A, NG_009809.2:g.5633C>A, NM_001399.5:c.391C>A, NM_001399.4:c.391C>A, NM_001005613.4:c.391C>A, NM_001005613.3:c.391C>A, NM_001005613.2:c.391C>A, NM_001005610.4:c.391C>A, NM_001005610.3:c.391C>A, NM_001005610.2:c.391C>A, NM_001005612.3:c.391C>A, NM_001005612.2:c.391C>A, NM_001005609.2:c.391C>A, NM_001005609.1:c.391C>A, XM_006724630.3:c.391C>A, XM_006724630.2:c.391C>A, XM_006724630.1:c.391C>A, XM_011530885.3:c.391C>A, XM_011530885.2:c.391C>A, XM_011530885.1:c.391C>A, XM_017029337.2:c.391C>A, XM_017029337.1:c.391C>A, XR_001755660.2:n.587C>A, XR_001755660.1:n.614C>A, XM_017029336.2:c.391C>A, XM_017029336.1:c.391C>A, NM_001005614.1:c.391C>A, NM_001005611.1:c.391C>A, NM_001005615.1:c.391C>A, NP_001390.1:p.His131Asn, NP_001005613.1:p.His131Asn, NP_001005610.2:p.His131Asn, NP_001005612.2:p.His131Asn, NP_001005609.1:p.His131Asn, XP_006724693.1:p.His131Asn, XP_011529187.1:p.His131Asn, XP_016884826.1:p.His131Asn, XP_016884825.1:p.His131Asn

Select item 144785044117.

rs1447850441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:70035598 (GRCh38)
X:69255448 (GRCh37)
Canonical SPDI:: NC_000023.11:70035597:C:A
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70035598C>A, NC_000023.10:g.69255448C>A, NG_009809.2:g.424532C>A, NM_001399.5:c.1165C>A, NM_001399.4:c.1165C>A, NM_001005612.3:c.1150C>A, NM_001005612.2:c.1150C>A, NM_001005609.2:c.1159C>A, NM_001005609.1:c.1159C>A, XM_006724630.3:c.1156C>A, XM_006724630.2:c.1156C>A, XM_006724630.1:c.1156C>A, XM_017029336.2:c.1123C>A, XM_017029336.1:c.1123C>A, NP_001390.1:p.Pro389Thr, NP_001005612.2:p.Pro384Thr, NP_001005609.1:p.Pro387Thr, XP_006724693.1:p.Pro386Thr, XP_016884825.1:p.Pro375Thr

Select item 144587078218.

rs1445870782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:70033460 (GRCh38)
X:69253310 (GRCh37)
Canonical SPDI:: NC_000023.11:70033459:C:T
Gene:: EDA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70033460C>T, NC_000023.10:g.69253310C>T, NG_009809.2:g.422394C>T, NM_001399.5:c.856C>T, NM_001399.4:c.856C>T, NM_001005612.3:c.847C>T, NM_001005612.2:c.847C>T, NM_001005609.2:c.856C>T, NM_001005609.1:c.856C>T, XM_006724630.3:c.847C>T, XM_006724630.2:c.847C>T, XM_006724630.1:c.847C>T, XM_011530885.3:c.856C>T, XM_011530885.2:c.856C>T, XM_011530885.1:c.856C>T, XM_017029336.2:c.856C>T, XM_017029336.1:c.856C>T

Select item 143680382119.

rs1436803821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69616414 (GRCh38)
X:68836258 (GRCh37)
Canonical SPDI:: NC_000023.11:69616413:G:A
Gene:: EDA (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.69616414G>A, NC_000023.10:g.68836258G>A, NG_009809.2:g.5348G>A, NM_001399.5:c.106G>A, NM_001399.4:c.106G>A, NM_001005613.4:c.106G>A, NM_001005613.3:c.106G>A, NM_001005613.2:c.106G>A, NM_001005610.4:c.106G>A, NM_001005610.3:c.106G>A, NM_001005610.2:c.106G>A, NM_001005612.3:c.106G>A, NM_001005612.2:c.106G>A, NM_001005609.2:c.106G>A, NM_001005609.1:c.106G>A, XM_006724630.3:c.106G>A, XM_006724630.2:c.106G>A, XM_006724630.1:c.106G>A, XM_011530885.3:c.106G>A, XM_011530885.2:c.106G>A, XM_011530885.1:c.106G>A, XM_017029337.2:c.106G>A, XM_017029337.1:c.106G>A, XR_001755660.2:n.302G>A, XR_001755660.1:n.329G>A, XM_017029336.2:c.106G>A, XM_017029336.1:c.106G>A, NM_001005614.1:c.106G>A, NM_001005611.1:c.106G>A, NM_001005615.1:c.106G>A, NP_001390.1:p.Glu36Lys, NP_001005613.1:p.Glu36Lys, NP_001005610.2:p.Glu36Lys, NP_001005612.2:p.Glu36Lys, NP_001005609.1:p.Glu36Lys, XP_006724693.1:p.Glu36Lys, XP_011529187.1:p.Glu36Lys, XP_016884826.1:p.Glu36Lys, XP_016884825.1:p.Glu36Lys

Select item 143508717920.

rs1435087179 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCAGGGACCCCCAGGA>- [Show Flanks]
Chromosome:: X:70027916 (GRCh38)
X:69247766 (GRCh37)
Canonical SPDI:: NC_000023.11:70027909:CCAGGACCCCAGGGACCCCCAGGA:CCAGGA
Gene:: EDA (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70027916_70027933del, NC_000023.10:g.69247766_69247783del, NG_009809.2:g.416850_416867del, NM_001399.5:c.586_603del, NM_001399.4:c.586_603del, NM_001005612.3:c.586_603del, NM_001005612.2:c.586_603del, NM_001005609.2:c.586_603del, NM_001005609.1:c.586_603del, XM_006724630.3:c.586_603del, XM_006724630.2:c.586_603del, XM_006724630.1:c.586_603del, XM_011530885.3:c.586_603del, XM_011530885.2:c.586_603del, XM_011530885.1:c.586_603del, XM_017029336.2:c.586_603del, XM_017029336.1:c.586_603del, NP_001390.1:p.Pro196_Gly201del, NP_001005612.2:p.Pro196_Gly201del, NP_001005609.1:p.Pro196_Gly201del, XP_006724693.1:p.Pro196_Gly201del, XP_011529187.1:p.Pro196_Gly201del, XP_016884825.1:p.Pro196_Gly201del

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