SNP Links for Protein (Select 213972566) - SNP

Select item 14908867471.

rs1490886747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86148877 (GRCh38)
X:85403881 (GRCh37)
Canonical SPDI:: NC_000023.11:86148876:A:G
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86148877A>G, NC_000023.10:g.85403881A>G, NG_012817.2:g.5427A>G, NM_053281.3:c.257A>G, NM_001139514.1:c.257A>G, XM_011530847.4:c.257A>G, XM_011530847.3:c.257A>G, XM_011530847.2:c.257A>G, XM_011530847.1:c.257A>G, XM_011530848.4:c.257A>G, XM_011530848.3:c.257A>G, XM_011530848.2:c.257A>G, XM_011530848.1:c.257A>G, XM_011530846.3:c.257A>G, XM_011530846.2:c.257A>G, XM_011530846.1:c.257A>G, XM_017029254.2:c.257A>G, XM_017029254.1:c.257A>G, XM_017029255.2:c.257A>G, XM_017029255.1:c.257A>G, NP_444511.1:p.Gln86Arg, NP_001132986.1:p.Gln86Arg, XP_011529149.1:p.Gln86Arg, XP_011529150.1:p.Gln86Arg, XP_011529148.1:p.Gln86Arg, XP_016884743.1:p.Gln86Arg, XP_016884744.1:p.Gln86Arg

Select item 14889300042.

rs1488930004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:86148896 (GRCh38)
X:85403900 (GRCh37)
Canonical SPDI:: NC_000023.11:86148895:G:A,NC_000023.11:86148895:G:T
Gene:: DACH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.86148896G>A, NC_000023.11:g.86148896G>T, NC_000023.10:g.85403900G>A, NC_000023.10:g.85403900G>T, NG_012817.2:g.5446G>A, NG_012817.2:g.5446G>T, NM_053281.3:c.276G>A, NM_053281.3:c.276G>T, NM_001139514.1:c.276G>A, NM_001139514.1:c.276G>T, XM_011530847.4:c.276G>A, XM_011530847.4:c.276G>T, XM_011530847.3:c.276G>A, XM_011530847.3:c.276G>T, XM_011530847.2:c.276G>A, XM_011530847.2:c.276G>T, XM_011530847.1:c.276G>A, XM_011530847.1:c.276G>T, XM_011530848.4:c.276G>A, XM_011530848.4:c.276G>T, XM_011530848.3:c.276G>A, XM_011530848.3:c.276G>T, XM_011530848.2:c.276G>A, XM_011530848.2:c.276G>T, XM_011530848.1:c.276G>A, XM_011530848.1:c.276G>T, XM_011530846.3:c.276G>A, XM_011530846.3:c.276G>T, XM_011530846.2:c.276G>A, XM_011530846.2:c.276G>T, XM_011530846.1:c.276G>A, XM_011530846.1:c.276G>T, XM_017029254.2:c.276G>A, XM_017029254.2:c.276G>T, XM_017029254.1:c.276G>A, XM_017029254.1:c.276G>T, XM_017029255.2:c.276G>A, XM_017029255.2:c.276G>T, XM_017029255.1:c.276G>A, XM_017029255.1:c.276G>T

Select item 14886289683.

rs1488628968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:86714577 (GRCh38)
X:85969580 (GRCh37)
Canonical SPDI:: NC_000023.11:86714576:C:G
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.86714577C>G, NC_000023.10:g.85969580C>G, NG_012817.2:g.571127C>G, NM_053281.3:c.961C>G, NM_001139514.1:c.922C>G, NM_001139515.1:c.460C>G, XM_011530847.4:c.961C>G, XM_011530847.3:c.961C>G, XM_011530847.2:c.961C>G, XM_011530847.1:c.961C>G, XM_011530848.4:c.961C>G, XM_011530848.3:c.961C>G, XM_011530848.2:c.961C>G, XM_011530848.1:c.961C>G, XM_011530846.3:c.961C>G, XM_011530846.2:c.961C>G, XM_011530846.1:c.961C>G, XM_017029254.2:c.922C>G, XM_017029254.1:c.922C>G, XM_017029255.2:c.922C>G, XM_017029255.1:c.922C>G, NP_444511.1:p.His321Asp, NP_001132986.1:p.His308Asp, NP_001132987.1:p.His154Asp, XP_011529149.1:p.His321Asp, XP_011529150.1:p.His321Asp, XP_011529148.1:p.His321Asp, XP_016884743.1:p.His308Asp, XP_016884744.1:p.His308Asp

Select item 14838625044.

rs1483862504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:86714664 (GRCh38)
X:85969667 (GRCh37)
Canonical SPDI:: NC_000023.11:86714663:G:T
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.86714664G>T, NC_000023.10:g.85969667G>T, NG_012817.2:g.571214G>T, NM_053281.3:c.1048G>T, NM_001139514.1:c.1009G>T, NM_001139515.1:c.547G>T, XM_011530847.4:c.1048G>T, XM_011530847.3:c.1048G>T, XM_011530847.2:c.1048G>T, XM_011530847.1:c.1048G>T, XM_011530848.4:c.1048G>T, XM_011530848.3:c.1048G>T, XM_011530848.2:c.1048G>T, XM_011530848.1:c.1048G>T, XM_011530846.3:c.1048G>T, XM_011530846.2:c.1048G>T, XM_011530846.1:c.1048G>T, XM_017029254.2:c.1009G>T, XM_017029254.1:c.1009G>T, XM_017029255.2:c.1009G>T, XM_017029255.1:c.1009G>T, NP_444511.1:p.Ala350Ser, NP_001132986.1:p.Ala337Ser, NP_001132987.1:p.Ala183Ser, XP_011529149.1:p.Ala350Ser, XP_011529150.1:p.Ala350Ser, XP_011529148.1:p.Ala350Ser, XP_016884743.1:p.Ala337Ser, XP_016884744.1:p.Ala337Ser

Select item 14800505675.

rs1480050567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86695147 (GRCh38)
X:85950150 (GRCh37)
Canonical SPDI:: NC_000023.11:86695146:A:G
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.86695147A>G, NC_000023.10:g.85950150A>G, NG_012817.2:g.551697A>G, NM_053281.3:c.899A>G, NM_001139514.1:c.860A>G, NM_001139515.1:c.398A>G, XM_011530847.4:c.899A>G, XM_011530847.3:c.899A>G, XM_011530847.2:c.899A>G, XM_011530847.1:c.899A>G, XM_011530848.4:c.899A>G, XM_011530848.3:c.899A>G, XM_011530848.2:c.899A>G, XM_011530848.1:c.899A>G, XM_011530846.3:c.899A>G, XM_011530846.2:c.899A>G, XM_011530846.1:c.899A>G, XM_017029254.2:c.860A>G, XM_017029254.1:c.860A>G, XM_017029255.2:c.860A>G, XM_017029255.1:c.860A>G, NP_444511.1:p.Asn300Ser, NP_001132986.1:p.Asn287Ser, NP_001132987.1:p.Asn133Ser, XP_011529149.1:p.Asn300Ser, XP_011529150.1:p.Asn300Ser, XP_011529148.1:p.Asn300Ser, XP_016884743.1:p.Asn287Ser, XP_016884744.1:p.Asn287Ser

Select item 14797318686.

rs1479731868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:86739832 (GRCh38)
X:85994835 (GRCh37)
Canonical SPDI:: NC_000023.11:86739831:G:A
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.86739832G>A, NC_000023.10:g.85994835G>A, NG_012817.2:g.596382G>A, NM_053281.3:c.1190G>A, NM_001139514.1:c.1151G>A, NM_001139515.1:c.689G>A, XM_011530847.4:c.1190G>A, XM_011530847.3:c.1190G>A, XM_011530847.2:c.1190G>A, XM_011530847.1:c.1190G>A, XM_011530848.4:c.1190G>A, XM_011530848.3:c.1190G>A, XM_011530848.2:c.1190G>A, XM_011530848.1:c.1190G>A, XM_011530846.3:c.1190G>A, XM_011530846.2:c.1190G>A, XM_011530846.1:c.1190G>A, XM_017029254.2:c.1151G>A, XM_017029254.1:c.1151G>A, XM_017029255.2:c.1151G>A, XM_017029255.1:c.1151G>A, NP_444511.1:p.Ser397Asn, NP_001132986.1:p.Ser384Asn, NP_001132987.1:p.Ser230Asn, XP_011529149.1:p.Ser397Asn, XP_011529150.1:p.Ser397Asn, XP_011529148.1:p.Ser397Asn, XP_016884743.1:p.Ser384Asn, XP_016884744.1:p.Ser384Asn

Select item 14742185667.

rs1474218566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86739865 (GRCh38)
X:85994868 (GRCh37)
Canonical SPDI:: NC_000023.11:86739864:A:G
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.86739865A>G, NC_000023.10:g.85994868A>G, NG_012817.2:g.596415A>G, NM_053281.3:c.1223A>G, NM_001139514.1:c.1184A>G, NM_001139515.1:c.722A>G, XM_011530847.4:c.1223A>G, XM_011530847.3:c.1223A>G, XM_011530847.2:c.1223A>G, XM_011530847.1:c.1223A>G, XM_011530848.4:c.1223A>G, XM_011530848.3:c.1223A>G, XM_011530848.2:c.1223A>G, XM_011530848.1:c.1223A>G, XM_011530846.3:c.1223A>G, XM_011530846.2:c.1223A>G, XM_011530846.1:c.1223A>G, XM_017029254.2:c.1184A>G, XM_017029254.1:c.1184A>G, XM_017029255.2:c.1184A>G, XM_017029255.1:c.1184A>G, NP_444511.1:p.His408Arg, NP_001132986.1:p.His395Arg, NP_001132987.1:p.His241Arg, XP_011529149.1:p.His408Arg, XP_011529150.1:p.His408Arg, XP_011529148.1:p.His408Arg, XP_016884743.1:p.His395Arg, XP_016884744.1:p.His395Arg

Select item 14731304958.

rs1473130495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:86814769 (GRCh38)
X:86069772 (GRCh37)
Canonical SPDI:: NC_000023.11:86814768:G:A,NC_000023.11:86814768:G:T
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86814769G>A, NC_000023.11:g.86814769G>T, NC_000023.10:g.86069772G>A, NC_000023.10:g.86069772G>T, NG_012817.2:g.671319G>A, NG_012817.2:g.671319G>T, NM_053281.3:c.1619G>A, NM_053281.3:c.1619G>T, NM_001139514.1:c.1580G>A, NM_001139514.1:c.1580G>T, NM_001139515.1:c.1118G>A, NM_001139515.1:c.1118G>T, XM_011530847.4:c.1649G>A, XM_011530847.4:c.1649G>T, XM_011530847.3:c.1649G>A, XM_011530847.3:c.1649G>T, XM_011530847.2:c.1649G>A, XM_011530847.2:c.1649G>T, XM_011530847.1:c.1649G>A, XM_011530847.1:c.1649G>T, XM_011530848.4:c.1619G>A, XM_011530848.4:c.1619G>T, XM_011530848.3:c.1619G>A, XM_011530848.3:c.1619G>T, XM_011530848.2:c.1619G>A, XM_011530848.2:c.1619G>T, XM_011530848.1:c.1619G>A, XM_011530848.1:c.1619G>T, XM_011530846.3:c.1649G>A, XM_011530846.3:c.1649G>T, XM_011530846.2:c.1649G>A, XM_011530846.2:c.1649G>T, XM_011530846.1:c.1649G>A, XM_011530846.1:c.1649G>T, XM_017029254.2:c.1610G>A, XM_017029254.2:c.1610G>T, XM_017029254.1:c.1610G>A, XM_017029254.1:c.1610G>T, XM_017029255.2:c.1580G>A, XM_017029255.2:c.1580G>T, XM_017029255.1:c.1580G>A, XM_017029255.1:c.1580G>T, NP_444511.1:p.Arg540Gln, NP_444511.1:p.Arg540Leu, NP_001132986.1:p.Arg527Gln, NP_001132986.1:p.Arg527Leu, NP_001132987.1:p.Arg373Gln, NP_001132987.1:p.Arg373Leu, XP_011529149.1:p.Arg550Gln, XP_011529149.1:p.Arg550Leu, XP_011529150.1:p.Arg540Gln, XP_011529150.1:p.Arg540Leu, XP_011529148.1:p.Arg550Gln, XP_011529148.1:p.Arg550Leu, XP_016884743.1:p.Arg537Gln, XP_016884743.1:p.Arg537Leu, XP_016884744.1:p.Arg527Gln, XP_016884744.1:p.Arg527Leu

Select item 14691217059.

rs1469121705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:86695053 (GRCh38)
X:85950056 (GRCh37)
Canonical SPDI:: NC_000023.11:86695052:A:C
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.86695053A>C, NC_000023.10:g.85950056A>C, NG_012817.2:g.551603A>C, NM_053281.3:c.805A>C, NM_001139514.1:c.766A>C, NM_001139515.1:c.304A>C, XM_011530847.4:c.805A>C, XM_011530847.3:c.805A>C, XM_011530847.2:c.805A>C, XM_011530847.1:c.805A>C, XM_011530848.4:c.805A>C, XM_011530848.3:c.805A>C, XM_011530848.2:c.805A>C, XM_011530848.1:c.805A>C, XM_011530846.3:c.805A>C, XM_011530846.2:c.805A>C, XM_011530846.1:c.805A>C, XM_017029254.2:c.766A>C, XM_017029254.1:c.766A>C, XM_017029255.2:c.766A>C, XM_017029255.1:c.766A>C, NP_444511.1:p.Met269Leu, NP_001132986.1:p.Met256Leu, NP_001132987.1:p.Met102Leu, XP_011529149.1:p.Met269Leu, XP_011529150.1:p.Met269Leu, XP_011529148.1:p.Met269Leu, XP_016884743.1:p.Met256Leu, XP_016884744.1:p.Met256Leu

Select item 146784394910.

rs1467843949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:86739845 (GRCh38)
X:85994848 (GRCh37)
Canonical SPDI:: NC_000023.11:86739844:C:T
Gene:: DACH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86739845C>T, NC_000023.10:g.85994848C>T, NG_012817.2:g.596395C>T, NM_053281.3:c.1203C>T, NM_001139514.1:c.1164C>T, NM_001139515.1:c.702C>T, XM_011530847.4:c.1203C>T, XM_011530847.3:c.1203C>T, XM_011530847.2:c.1203C>T, XM_011530847.1:c.1203C>T, XM_011530848.4:c.1203C>T, XM_011530848.3:c.1203C>T, XM_011530848.2:c.1203C>T, XM_011530848.1:c.1203C>T, XM_011530846.3:c.1203C>T, XM_011530846.2:c.1203C>T, XM_011530846.1:c.1203C>T, XM_017029254.2:c.1164C>T, XM_017029254.1:c.1164C>T, XM_017029255.2:c.1164C>T, XM_017029255.1:c.1164C>T

Select item 146462210411.

rs1464622104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:86148628 (GRCh38)
X:85403632 (GRCh37)
Canonical SPDI:: NC_000023.11:86148627:T:C
Gene:: DACH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86148628T>C, NC_000023.10:g.85403632T>C, NG_012817.2:g.5178T>C, NM_053281.3:c.8T>C, NM_001139514.1:c.8T>C, XM_011530847.4:c.8T>C, XM_011530847.3:c.8T>C, XM_011530847.2:c.8T>C, XM_011530847.1:c.8T>C, XM_011530848.4:c.8T>C, XM_011530848.3:c.8T>C, XM_011530848.2:c.8T>C, XM_011530848.1:c.8T>C, XM_011530846.3:c.8T>C, XM_011530846.2:c.8T>C, XM_011530846.1:c.8T>C, XM_017029254.2:c.8T>C, XM_017029254.1:c.8T>C, XM_017029255.2:c.8T>C, XM_017029255.1:c.8T>C, NP_444511.1:p.Val3Ala, NP_001132986.1:p.Val3Ala, XP_011529149.1:p.Val3Ala, XP_011529150.1:p.Val3Ala, XP_011529148.1:p.Val3Ala, XP_016884743.1:p.Val3Ala, XP_016884744.1:p.Val3Ala

Select item 146160618512.

rs1461606185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:86514308 (GRCh38)
X:85769311 (GRCh37)
Canonical SPDI:: NC_000023.11:86514307:C:A
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86514308C>A, NC_000023.10:g.85769311C>A, NG_012817.2:g.370858C>A, NM_053281.3:c.557C>A, NM_001139514.1:c.518C>A, NM_001139515.1:c.56C>A, XM_011530847.4:c.557C>A, XM_011530847.3:c.557C>A, XM_011530847.2:c.557C>A, XM_011530847.1:c.557C>A, XM_011530848.4:c.557C>A, XM_011530848.3:c.557C>A, XM_011530848.2:c.557C>A, XM_011530848.1:c.557C>A, XM_011530846.3:c.557C>A, XM_011530846.2:c.557C>A, XM_011530846.1:c.557C>A, XM_017029254.2:c.518C>A, XM_017029254.1:c.518C>A, XM_017029255.2:c.518C>A, XM_017029255.1:c.518C>A, NP_444511.1:p.Ser186Tyr, NP_001132986.1:p.Ser173Tyr, NP_001132987.1:p.Ser19Tyr, XP_011529149.1:p.Ser186Tyr, XP_011529150.1:p.Ser186Tyr, XP_011529148.1:p.Ser186Tyr, XP_016884743.1:p.Ser173Tyr, XP_016884744.1:p.Ser173Tyr

Select item 146107932213.

rs1461079322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:86514314 (GRCh38)
X:85769317 (GRCh37)
Canonical SPDI:: NC_000023.11:86514313:G:A,NC_000023.11:86514313:G:T
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.86514314G>A, NC_000023.11:g.86514314G>T, NC_000023.10:g.85769317G>A, NC_000023.10:g.85769317G>T, NG_012817.2:g.370864G>A, NG_012817.2:g.370864G>T, NM_053281.3:c.563G>A, NM_053281.3:c.563G>T, NM_001139514.1:c.524G>A, NM_001139514.1:c.524G>T, NM_001139515.1:c.62G>A, NM_001139515.1:c.62G>T, XM_011530847.4:c.563G>A, XM_011530847.4:c.563G>T, XM_011530847.3:c.563G>A, XM_011530847.3:c.563G>T, XM_011530847.2:c.563G>A, XM_011530847.2:c.563G>T, XM_011530847.1:c.563G>A, XM_011530847.1:c.563G>T, XM_011530848.4:c.563G>A, XM_011530848.4:c.563G>T, XM_011530848.3:c.563G>A, XM_011530848.3:c.563G>T, XM_011530848.2:c.563G>A, XM_011530848.2:c.563G>T, XM_011530848.1:c.563G>A, XM_011530848.1:c.563G>T, XM_011530846.3:c.563G>A, XM_011530846.3:c.563G>T, XM_011530846.2:c.563G>A, XM_011530846.2:c.563G>T, XM_011530846.1:c.563G>A, XM_011530846.1:c.563G>T, XM_017029254.2:c.524G>A, XM_017029254.2:c.524G>T, XM_017029254.1:c.524G>A, XM_017029254.1:c.524G>T, XM_017029255.2:c.524G>A, XM_017029255.2:c.524G>T, XM_017029255.1:c.524G>A, XM_017029255.1:c.524G>T, NP_444511.1:p.Gly188Glu, NP_444511.1:p.Gly188Val, NP_001132986.1:p.Gly175Glu, NP_001132986.1:p.Gly175Val, NP_001132987.1:p.Gly21Glu, NP_001132987.1:p.Gly21Val, XP_011529149.1:p.Gly188Glu, XP_011529149.1:p.Gly188Val, XP_011529150.1:p.Gly188Glu, XP_011529150.1:p.Gly188Val, XP_011529148.1:p.Gly188Glu, XP_011529148.1:p.Gly188Val, XP_016884743.1:p.Gly175Glu, XP_016884743.1:p.Gly175Val, XP_016884744.1:p.Gly175Glu, XP_016884744.1:p.Gly175Val

Select item 145968424414.

rs1459684244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:86812904 (GRCh38)
X:86067908 (GRCh37)
Canonical SPDI:: NC_000023.11:86812904:A:AA
Gene:: DACH2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.86812905dup, NC_000023.10:g.86067908dup, NG_012817.2:g.669455dup, NM_053281.3:c.1290dup, NM_001139514.1:c.1251dup, NM_001139515.1:c.789dup, XM_011530847.4:c.1290dup, XM_011530847.3:c.1290dup, XM_011530847.2:c.1290dup, XM_011530847.1:c.1290dup, XM_011530848.4:c.1290dup, XM_011530848.3:c.1290dup, XM_011530848.2:c.1290dup, XM_011530848.1:c.1290dup, XM_011530846.3:c.1290dup, XM_011530846.2:c.1290dup, XM_011530846.1:c.1290dup, XM_017029254.2:c.1251dup, XM_017029254.1:c.1251dup, XM_017029255.2:c.1251dup, XM_017029255.1:c.1251dup, NP_444511.1:p.Gln431fs, NP_001132986.1:p.Gln418fs, NP_001132987.1:p.Gln264fs, XP_011529149.1:p.Gln431fs, XP_011529150.1:p.Gln431fs, XP_011529148.1:p.Gln431fs, XP_016884743.1:p.Gln418fs, XP_016884744.1:p.Gln418fs

Select item 145685781915.

rs1456857819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:86812994 (GRCh38)
X:86067997 (GRCh37)
Canonical SPDI:: NC_000023.11:86812993:C:T
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.86812994C>T, NC_000023.10:g.86067997C>T, NG_012817.2:g.669544C>T, NM_053281.3:c.1379C>T, NM_001139514.1:c.1340C>T, NM_001139515.1:c.878C>T, XM_011530847.4:c.1379C>T, XM_011530847.3:c.1379C>T, XM_011530847.2:c.1379C>T, XM_011530847.1:c.1379C>T, XM_011530848.4:c.1379C>T, XM_011530848.3:c.1379C>T, XM_011530848.2:c.1379C>T, XM_011530848.1:c.1379C>T, XM_011530846.3:c.1379C>T, XM_011530846.2:c.1379C>T, XM_011530846.1:c.1379C>T, XM_017029254.2:c.1340C>T, XM_017029254.1:c.1340C>T, XM_017029255.2:c.1340C>T, XM_017029255.1:c.1340C>T, NP_444511.1:p.Thr460Ile, NP_001132986.1:p.Thr447Ile, NP_001132987.1:p.Thr293Ile, XP_011529149.1:p.Thr460Ile, XP_011529150.1:p.Thr460Ile, XP_011529148.1:p.Thr460Ile, XP_016884743.1:p.Thr447Ile, XP_016884744.1:p.Thr447Ile

Select item 145580023916.

rs1455800239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:86814802 (GRCh38)
X:86069805 (GRCh37)
Canonical SPDI:: NC_000023.11:86814801:C:A
Gene:: DACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.86814802C>A, NC_000023.10:g.86069805C>A, NG_012817.2:g.671352C>A, NM_053281.3:c.1652C>A, NM_001139514.1:c.1613C>A, NM_001139515.1:c.1151C>A, XM_011530847.4:c.1682C>A, XM_011530847.3:c.1682C>A, XM_011530847.2:c.1682C>A, XM_011530847.1:c.1682C>A, XM_011530848.4:c.1652C>A, XM_011530848.3:c.1652C>A, XM_011530848.2:c.1652C>A, XM_011530848.1:c.1652C>A, XM_011530846.3:c.1682C>A, XM_011530846.2:c.1682C>A, XM_011530846.1:c.1682C>A, XM_017029254.2:c.1643C>A, XM_017029254.1:c.1643C>A, XM_017029255.2:c.1613C>A, XM_017029255.1:c.1613C>A, NP_444511.1:p.Thr551Asn, NP_001132986.1:p.Thr538Asn, NP_001132987.1:p.Thr384Asn, XP_011529149.1:p.Thr561Asn, XP_011529150.1:p.Thr551Asn, XP_011529148.1:p.Thr561Asn, XP_016884743.1:p.Thr548Asn, XP_016884744.1:p.Thr538Asn

Select item 145462088517.

rs1454620885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86813167 (GRCh38)
X:86068170 (GRCh37)
Canonical SPDI:: NC_000023.11:86813166:A:G
Gene:: DACH2 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.86813167A>G, NC_000023.10:g.86068170A>G, NG_012817.2:g.669717A>G, NM_053281.3:c.1427A>G, NM_001139514.1:c.1388A>G, NM_001139515.1:c.926A>G, XM_011530847.4:c.1457A>G, XM_011530847.3:c.1457A>G, XM_011530847.2:c.1457A>G, XM_011530847.1:c.1457A>G, XM_011530848.4:c.1427A>G, XM_011530848.3:c.1427A>G, XM_011530848.2:c.1427A>G, XM_011530848.1:c.1427A>G, XM_011530846.3:c.1457A>G, XM_011530846.2:c.1457A>G, XM_011530846.1:c.1457A>G, XM_017029254.2:c.1418A>G, XM_017029254.1:c.1418A>G, XM_017029255.2:c.1388A>G, XM_017029255.1:c.1388A>G, NP_444511.1:p.Gln476Arg, NP_001132986.1:p.Gln463Arg, NP_001132987.1:p.Gln309Arg, XP_011529149.1:p.Gln486Arg, XP_011529150.1:p.Gln476Arg, XP_011529148.1:p.Gln486Arg, XP_016884743.1:p.Gln473Arg, XP_016884744.1:p.Gln463Arg

Select item 145290136918.

rs1452901369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:86739762 (GRCh38)
X:85994765 (GRCh37)
Canonical SPDI:: NC_000023.11:86739761:A:G
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86739762A>G, NC_000023.10:g.85994765A>G, NG_012817.2:g.596312A>G, NM_053281.3:c.1120A>G, NM_001139514.1:c.1081A>G, NM_001139515.1:c.619A>G, XM_011530847.4:c.1120A>G, XM_011530847.3:c.1120A>G, XM_011530847.2:c.1120A>G, XM_011530847.1:c.1120A>G, XM_011530848.4:c.1120A>G, XM_011530848.3:c.1120A>G, XM_011530848.2:c.1120A>G, XM_011530848.1:c.1120A>G, XM_011530846.3:c.1120A>G, XM_011530846.2:c.1120A>G, XM_011530846.1:c.1120A>G, XM_017029254.2:c.1081A>G, XM_017029254.1:c.1081A>G, XM_017029255.2:c.1081A>G, XM_017029255.1:c.1081A>G, NP_444511.1:p.Ser374Gly, NP_001132986.1:p.Ser361Gly, NP_001132987.1:p.Ser207Gly, XP_011529149.1:p.Ser374Gly, XP_011529150.1:p.Ser374Gly, XP_011529148.1:p.Ser374Gly, XP_016884743.1:p.Ser361Gly, XP_016884744.1:p.Ser361Gly

Select item 145217038119.

rs1452170381 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:86812941 (GRCh38)
X:86067944 (GRCh37)
Canonical SPDI:: NC_000023.11:86812940:CCC:CC
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.86812943del, NC_000023.10:g.86067946del, NG_012817.2:g.669493del, NM_053281.3:c.1328del, NM_001139514.1:c.1289del, NM_001139515.1:c.827del, XM_011530847.4:c.1328del, XM_011530847.3:c.1328del, XM_011530847.2:c.1328del, XM_011530847.1:c.1328del, XM_011530848.4:c.1328del, XM_011530848.3:c.1328del, XM_011530848.2:c.1328del, XM_011530848.1:c.1328del, XM_011530846.3:c.1328del, XM_011530846.2:c.1328del, XM_011530846.1:c.1328del, XM_017029254.2:c.1289del, XM_017029254.1:c.1289del, XM_017029255.2:c.1289del, XM_017029255.1:c.1289del, NP_444511.1:p.Pro443fs, NP_001132986.1:p.Pro430fs, NP_001132987.1:p.Pro276fs, XP_011529149.1:p.Pro443fs, XP_011529150.1:p.Pro443fs, XP_011529148.1:p.Pro443fs, XP_016884743.1:p.Pro430fs, XP_016884744.1:p.Pro430fs

Select item 144945977320.

rs1449459773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:86148724 (GRCh38)
X:85403728 (GRCh37)
Canonical SPDI:: NC_000023.11:86148723:C:T
Gene:: DACH2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.86148724C>T, NC_000023.10:g.85403728C>T, NG_012817.2:g.5274C>T, NM_053281.3:c.104C>T, NM_001139514.1:c.104C>T, XM_011530847.4:c.104C>T, XM_011530847.3:c.104C>T, XM_011530847.2:c.104C>T, XM_011530847.1:c.104C>T, XM_011530848.4:c.104C>T, XM_011530848.3:c.104C>T, XM_011530848.2:c.104C>T, XM_011530848.1:c.104C>T, XM_011530846.3:c.104C>T, XM_011530846.2:c.104C>T, XM_011530846.1:c.104C>T, XM_017029254.2:c.104C>T, XM_017029254.1:c.104C>T, XM_017029255.2:c.104C>T, XM_017029255.1:c.104C>T, NP_444511.1:p.Pro35Leu, NP_001132986.1:p.Pro35Leu, XP_011529149.1:p.Pro35Leu, XP_011529150.1:p.Pro35Leu, XP_011529148.1:p.Pro35Leu, XP_016884743.1:p.Pro35Leu, XP_016884744.1:p.Pro35Leu

dbSNP

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 419

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