SNP Links for Protein (Select 530416407) - SNP

Links from Protein

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Select item 14907190031.

rs1490719003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:34739541 (GRCh38)
19:35230446 (GRCh37)
Canonical SPDI:: NC_000019.10:34739540:A:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34739541A>C, NC_000019.9:g.35230446A>C, NM_001029997.4:c.149A>C, NM_001029997.3:c.149A>C, XM_006723183.4:c.149A>C, XM_006723183.3:c.149A>C, XM_006723183.2:c.149A>C, XM_006723183.1:c.149A>C, XM_005258851.4:c.149A>C, XM_005258851.3:c.149A>C, XM_005258851.2:c.149A>C, XM_005258851.1:c.149A>C, XM_006723184.4:c.146A>C, XM_006723184.3:c.146A>C, XM_006723184.2:c.146A>C, XM_006723184.1:c.146A>C, XM_017026739.3:c.146A>C, XM_017026739.2:c.146A>C, XM_017026739.1:c.146A>C, XM_005258849.3:c.149A>C, XM_005258849.2:c.149A>C, XM_005258849.1:c.149A>C, XM_005258850.3:c.146A>C, XM_005258850.2:c.146A>C, XM_005258850.1:c.146A>C, NM_001145665.2:c.146A>C, NM_001145665.1:c.146A>C, XM_047438747.1:c.149A>C, XM_047438748.1:c.146A>C, NP_001025168.2:p.Lys50Thr, XP_006723246.1:p.Lys50Thr, XP_005258908.1:p.Lys50Thr, XP_006723247.1:p.Lys49Thr, XP_016882228.1:p.Lys49Thr, XP_005258906.1:p.Lys50Thr, XP_005258907.1:p.Lys49Thr, NP_001139137.1:p.Lys49Thr, XP_047294703.1:p.Lys50Thr, XP_047294704.1:p.Lys49Thr

Select item 14843809672.

rs1484380967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:34741389 (GRCh38)
19:35232294 (GRCh37)
Canonical SPDI:: NC_000019.10:34741388:T:C
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.34741389T>C, NC_000019.9:g.35232294T>C, NM_001029997.4:c.1008T>C, NM_001029997.3:c.1008T>C, XM_006723183.4:c.1008T>C, XM_006723183.3:c.1008T>C, XM_006723183.2:c.1008T>C, XM_006723183.1:c.1008T>C, XM_005258851.4:c.996T>C, XM_005258851.3:c.996T>C, XM_005258851.2:c.996T>C, XM_005258851.1:c.996T>C, XM_006723184.4:c.993T>C, XM_006723184.3:c.993T>C, XM_006723184.2:c.993T>C, XM_006723184.1:c.993T>C, XM_017026739.3:c.1005T>C, XM_017026739.2:c.1005T>C, XM_017026739.1:c.1005T>C, XM_005258849.3:c.1008T>C, XM_005258849.2:c.1008T>C, XM_005258849.1:c.1008T>C, XM_005258850.3:c.1005T>C, XM_005258850.2:c.1005T>C, XM_005258850.1:c.1005T>C, NM_001145665.2:c.1005T>C, NM_001145665.1:c.1005T>C, XM_047438747.1:c.996T>C, XM_047438748.1:c.993T>C

Select item 14831437663.

rs1483143766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34741137 (GRCh38)
19:35232042 (GRCh37)
Canonical SPDI:: NC_000019.10:34741136:C:T
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741137C>T, NC_000019.9:g.35232042C>T, NM_001029997.4:c.756C>T, NM_001029997.3:c.756C>T, XM_006723183.4:c.756C>T, XM_006723183.3:c.756C>T, XM_006723183.2:c.756C>T, XM_006723183.1:c.756C>T, XM_005258851.4:c.744C>T, XM_005258851.3:c.744C>T, XM_005258851.2:c.744C>T, XM_005258851.1:c.744C>T, XM_006723184.4:c.741C>T, XM_006723184.3:c.741C>T, XM_006723184.2:c.741C>T, XM_006723184.1:c.741C>T, XM_017026739.3:c.753C>T, XM_017026739.2:c.753C>T, XM_017026739.1:c.753C>T, XM_005258849.3:c.756C>T, XM_005258849.2:c.756C>T, XM_005258849.1:c.756C>T, XM_005258850.3:c.753C>T, XM_005258850.2:c.753C>T, XM_005258850.1:c.753C>T, NM_001145665.2:c.753C>T, NM_001145665.1:c.753C>T, XM_047438747.1:c.744C>T, XM_047438748.1:c.741C>T

Select item 14822146044.

rs1482214604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 19:34740691 (GRCh38)
19:35231596 (GRCh37)
Canonical SPDI:: NC_000019.10:34740685:TAATAATA:TAATA
Gene:: ZNF181 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.34740688ATA[1], NC_000019.9:g.35231593ATA[1], NM_001029997.4:c.307ATA[1], NM_001029997.3:c.307ATA[1], XM_006723183.4:c.307ATA[1], XM_006723183.3:c.307ATA[1], XM_006723183.2:c.307ATA[1], XM_006723183.1:c.307ATA[1], XM_005258851.4:c.295ATA[1], XM_005258851.3:c.295ATA[1], XM_005258851.2:c.295ATA[1], XM_005258851.1:c.295ATA[1], XM_006723184.4:c.292ATA[1], XM_006723184.3:c.292ATA[1], XM_006723184.2:c.292ATA[1], XM_006723184.1:c.292ATA[1], XM_017026739.3:c.304ATA[1], XM_017026739.2:c.304ATA[1], XM_017026739.1:c.304ATA[1], XM_005258849.3:c.307ATA[1], XM_005258849.2:c.307ATA[1], XM_005258849.1:c.307ATA[1], XM_005258850.3:c.304ATA[1], XM_005258850.2:c.304ATA[1], XM_005258850.1:c.304ATA[1], NM_001145665.2:c.304ATA[1], NM_001145665.1:c.304ATA[1], XM_047438747.1:c.295ATA[1], XM_047438748.1:c.292ATA[1], NP_001025168.2:p.Ile104del, XP_006723246.1:p.Ile104del, XP_005258908.1:p.Ile100del, XP_006723247.1:p.Ile99del, XP_016882228.1:p.Ile103del, XP_005258906.1:p.Ile104del, XP_005258907.1:p.Ile103del, NP_001139137.1:p.Ile103del, XP_047294703.1:p.Ile100del, XP_047294704.1:p.Ile99del

Select item 14821631045.

rs1482163104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:34741441 (GRCh38)
19:35232346 (GRCh37)
Canonical SPDI:: NC_000019.10:34741440:T:G
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34741441T>G, NC_000019.9:g.35232346T>G, NM_001029997.4:c.1060T>G, NM_001029997.3:c.1060T>G, XM_006723183.4:c.1060T>G, XM_006723183.3:c.1060T>G, XM_006723183.2:c.1060T>G, XM_006723183.1:c.1060T>G, XM_005258851.4:c.1048T>G, XM_005258851.3:c.1048T>G, XM_005258851.2:c.1048T>G, XM_005258851.1:c.1048T>G, XM_006723184.4:c.1045T>G, XM_006723184.3:c.1045T>G, XM_006723184.2:c.1045T>G, XM_006723184.1:c.1045T>G, XM_017026739.3:c.1057T>G, XM_017026739.2:c.1057T>G, XM_017026739.1:c.1057T>G, XM_005258849.3:c.1060T>G, XM_005258849.2:c.1060T>G, XM_005258849.1:c.1060T>G, XM_005258850.3:c.1057T>G, XM_005258850.2:c.1057T>G, XM_005258850.1:c.1057T>G, NM_001145665.2:c.1057T>G, NM_001145665.1:c.1057T>G, XM_047438747.1:c.1048T>G, XM_047438748.1:c.1045T>G, NP_001025168.2:p.Cys354Gly, XP_006723246.1:p.Cys354Gly, XP_005258908.1:p.Cys350Gly, XP_006723247.1:p.Cys349Gly, XP_016882228.1:p.Cys353Gly, XP_005258906.1:p.Cys354Gly, XP_005258907.1:p.Cys353Gly, NP_001139137.1:p.Cys353Gly, XP_047294703.1:p.Cys350Gly, XP_047294704.1:p.Cys349Gly

Select item 14792734826.

rs1479273482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:34741252 (GRCh38)
19:35232157 (GRCh37)
Canonical SPDI:: NC_000019.10:34741251:A:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.34741252A>C, NC_000019.9:g.35232157A>C, NM_001029997.4:c.871A>C, NM_001029997.3:c.871A>C, XM_006723183.4:c.871A>C, XM_006723183.3:c.871A>C, XM_006723183.2:c.871A>C, XM_006723183.1:c.871A>C, XM_005258851.4:c.859A>C, XM_005258851.3:c.859A>C, XM_005258851.2:c.859A>C, XM_005258851.1:c.859A>C, XM_006723184.4:c.856A>C, XM_006723184.3:c.856A>C, XM_006723184.2:c.856A>C, XM_006723184.1:c.856A>C, XM_017026739.3:c.868A>C, XM_017026739.2:c.868A>C, XM_017026739.1:c.868A>C, XM_005258849.3:c.871A>C, XM_005258849.2:c.871A>C, XM_005258849.1:c.871A>C, XM_005258850.3:c.868A>C, XM_005258850.2:c.868A>C, XM_005258850.1:c.868A>C, NM_001145665.2:c.868A>C, NM_001145665.1:c.868A>C, XM_047438747.1:c.859A>C, XM_047438748.1:c.856A>C, NP_001025168.2:p.Lys291Gln, XP_006723246.1:p.Lys291Gln, XP_005258908.1:p.Lys287Gln, XP_006723247.1:p.Lys286Gln, XP_016882228.1:p.Lys290Gln, XP_005258906.1:p.Lys291Gln, XP_005258907.1:p.Lys290Gln, NP_001139137.1:p.Lys290Gln, XP_047294703.1:p.Lys287Gln, XP_047294704.1:p.Lys286Gln

Select item 14786685847.

rs1478668584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34740805 (GRCh38)
19:35231710 (GRCh37)
Canonical SPDI:: NC_000019.10:34740804:A:G
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34740805A>G, NC_000019.9:g.35231710A>G, NM_001029997.4:c.424A>G, NM_001029997.3:c.424A>G, XM_006723183.4:c.424A>G, XM_006723183.3:c.424A>G, XM_006723183.2:c.424A>G, XM_006723183.1:c.424A>G, XM_005258851.4:c.412A>G, XM_005258851.3:c.412A>G, XM_005258851.2:c.412A>G, XM_005258851.1:c.412A>G, XM_006723184.4:c.409A>G, XM_006723184.3:c.409A>G, XM_006723184.2:c.409A>G, XM_006723184.1:c.409A>G, XM_017026739.3:c.421A>G, XM_017026739.2:c.421A>G, XM_017026739.1:c.421A>G, XM_005258849.3:c.424A>G, XM_005258849.2:c.424A>G, XM_005258849.1:c.424A>G, XM_005258850.3:c.421A>G, XM_005258850.2:c.421A>G, XM_005258850.1:c.421A>G, NM_001145665.2:c.421A>G, NM_001145665.1:c.421A>G, XM_047438747.1:c.412A>G, XM_047438748.1:c.409A>G, NP_001025168.2:p.Ile142Val, XP_006723246.1:p.Ile142Val, XP_005258908.1:p.Ile138Val, XP_006723247.1:p.Ile137Val, XP_016882228.1:p.Ile141Val, XP_005258906.1:p.Ile142Val, XP_005258907.1:p.Ile141Val, NP_001139137.1:p.Ile141Val, XP_047294703.1:p.Ile138Val, XP_047294704.1:p.Ile137Val

Select item 14726334578.

rs1472633457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34741080 (GRCh38)
19:35231985 (GRCh37)
Canonical SPDI:: NC_000019.10:34741079:A:G
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741080A>G, NC_000019.9:g.35231985A>G, NM_001029997.4:c.699A>G, NM_001029997.3:c.699A>G, XM_006723183.4:c.699A>G, XM_006723183.3:c.699A>G, XM_006723183.2:c.699A>G, XM_006723183.1:c.699A>G, XM_005258851.4:c.687A>G, XM_005258851.3:c.687A>G, XM_005258851.2:c.687A>G, XM_005258851.1:c.687A>G, XM_006723184.4:c.684A>G, XM_006723184.3:c.684A>G, XM_006723184.2:c.684A>G, XM_006723184.1:c.684A>G, XM_017026739.3:c.696A>G, XM_017026739.2:c.696A>G, XM_017026739.1:c.696A>G, XM_005258849.3:c.699A>G, XM_005258849.2:c.699A>G, XM_005258849.1:c.699A>G, XM_005258850.3:c.696A>G, XM_005258850.2:c.696A>G, XM_005258850.1:c.696A>G, NM_001145665.2:c.696A>G, NM_001145665.1:c.696A>G, XM_047438747.1:c.687A>G, XM_047438748.1:c.684A>G

Select item 14719807059.

rs1471980705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34741723 (GRCh38)
19:35232628 (GRCh37)
Canonical SPDI:: NC_000019.10:34741722:C:T
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741723C>T, NC_000019.9:g.35232628C>T, NM_001029997.4:c.1342C>T, NM_001029997.3:c.1342C>T, XM_006723183.4:c.1342C>T, XM_006723183.3:c.1342C>T, XM_006723183.2:c.1342C>T, XM_006723183.1:c.1342C>T, XM_005258851.4:c.1330C>T, XM_005258851.3:c.1330C>T, XM_005258851.2:c.1330C>T, XM_005258851.1:c.1330C>T, XM_006723184.4:c.1327C>T, XM_006723184.3:c.1327C>T, XM_006723184.2:c.1327C>T, XM_006723184.1:c.1327C>T, XM_017026739.3:c.1339C>T, XM_017026739.2:c.1339C>T, XM_017026739.1:c.1339C>T, XM_005258849.3:c.1342C>T, XM_005258849.2:c.1342C>T, XM_005258849.1:c.1342C>T, XM_005258850.3:c.1339C>T, XM_005258850.2:c.1339C>T, XM_005258850.1:c.1339C>T, NM_001145665.2:c.1339C>T, NM_001145665.1:c.1339C>T, XM_047438747.1:c.1330C>T, XM_047438748.1:c.1327C>T

Select item 147164795510.

rs1471647955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:34741393 (GRCh38)
19:35232298 (GRCh37)
Canonical SPDI:: NC_000019.10:34741392:G:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741393G>C, NC_000019.9:g.35232298G>C, NM_001029997.4:c.1012G>C, NM_001029997.3:c.1012G>C, XM_006723183.4:c.1012G>C, XM_006723183.3:c.1012G>C, XM_006723183.2:c.1012G>C, XM_006723183.1:c.1012G>C, XM_005258851.4:c.1000G>C, XM_005258851.3:c.1000G>C, XM_005258851.2:c.1000G>C, XM_005258851.1:c.1000G>C, XM_006723184.4:c.997G>C, XM_006723184.3:c.997G>C, XM_006723184.2:c.997G>C, XM_006723184.1:c.997G>C, XM_017026739.3:c.1009G>C, XM_017026739.2:c.1009G>C, XM_017026739.1:c.1009G>C, XM_005258849.3:c.1012G>C, XM_005258849.2:c.1012G>C, XM_005258849.1:c.1012G>C, XM_005258850.3:c.1009G>C, XM_005258850.2:c.1009G>C, XM_005258850.1:c.1009G>C, NM_001145665.2:c.1009G>C, NM_001145665.1:c.1009G>C, XM_047438747.1:c.1000G>C, XM_047438748.1:c.997G>C, NP_001025168.2:p.Glu338Gln, XP_006723246.1:p.Glu338Gln, XP_005258908.1:p.Glu334Gln, XP_006723247.1:p.Glu333Gln, XP_016882228.1:p.Glu337Gln, XP_005258906.1:p.Glu338Gln, XP_005258907.1:p.Glu337Gln, NP_001139137.1:p.Glu337Gln, XP_047294703.1:p.Glu334Gln, XP_047294704.1:p.Glu333Gln

Select item 147162797911.

rs1471627979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:34740933 (GRCh38)
19:35231838 (GRCh37)
Canonical SPDI:: NC_000019.10:34740932:A:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34740933A>C, NC_000019.9:g.35231838A>C, NM_001029997.4:c.552A>C, NM_001029997.3:c.552A>C, XM_006723183.4:c.552A>C, XM_006723183.3:c.552A>C, XM_006723183.2:c.552A>C, XM_006723183.1:c.552A>C, XM_005258851.4:c.540A>C, XM_005258851.3:c.540A>C, XM_005258851.2:c.540A>C, XM_005258851.1:c.540A>C, XM_006723184.4:c.537A>C, XM_006723184.3:c.537A>C, XM_006723184.2:c.537A>C, XM_006723184.1:c.537A>C, XM_017026739.3:c.549A>C, XM_017026739.2:c.549A>C, XM_017026739.1:c.549A>C, XM_005258849.3:c.552A>C, XM_005258849.2:c.552A>C, XM_005258849.1:c.552A>C, XM_005258850.3:c.549A>C, XM_005258850.2:c.549A>C, XM_005258850.1:c.549A>C, NM_001145665.2:c.549A>C, NM_001145665.1:c.549A>C, XM_047438747.1:c.540A>C, XM_047438748.1:c.537A>C, NP_001025168.2:p.Lys184Asn, XP_006723246.1:p.Lys184Asn, XP_005258908.1:p.Lys180Asn, XP_006723247.1:p.Lys179Asn, XP_016882228.1:p.Lys183Asn, XP_005258906.1:p.Lys184Asn, XP_005258907.1:p.Lys183Asn, NP_001139137.1:p.Lys183Asn, XP_047294703.1:p.Lys180Asn, XP_047294704.1:p.Lys179Asn

Select item 146986999012.

rs1469869990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:34741616 (GRCh38)
19:35232521 (GRCh37)
Canonical SPDI:: NC_000019.10:34741615:A:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34741616A>C, NC_000019.9:g.35232521A>C, NM_001029997.4:c.1235A>C, NM_001029997.3:c.1235A>C, XM_006723183.4:c.1235A>C, XM_006723183.3:c.1235A>C, XM_006723183.2:c.1235A>C, XM_006723183.1:c.1235A>C, XM_005258851.4:c.1223A>C, XM_005258851.3:c.1223A>C, XM_005258851.2:c.1223A>C, XM_005258851.1:c.1223A>C, XM_006723184.4:c.1220A>C, XM_006723184.3:c.1220A>C, XM_006723184.2:c.1220A>C, XM_006723184.1:c.1220A>C, XM_017026739.3:c.1232A>C, XM_017026739.2:c.1232A>C, XM_017026739.1:c.1232A>C, XM_005258849.3:c.1235A>C, XM_005258849.2:c.1235A>C, XM_005258849.1:c.1235A>C, XM_005258850.3:c.1232A>C, XM_005258850.2:c.1232A>C, XM_005258850.1:c.1232A>C, NM_001145665.2:c.1232A>C, NM_001145665.1:c.1232A>C, XM_047438747.1:c.1223A>C, XM_047438748.1:c.1220A>C, NP_001025168.2:p.Lys412Thr, XP_006723246.1:p.Lys412Thr, XP_005258908.1:p.Lys408Thr, XP_006723247.1:p.Lys407Thr, XP_016882228.1:p.Lys411Thr, XP_005258906.1:p.Lys412Thr, XP_005258907.1:p.Lys411Thr, NP_001139137.1:p.Lys411Thr, XP_047294703.1:p.Lys408Thr, XP_047294704.1:p.Lys407Thr

Select item 146963903713.

rs1469639037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34741809 (GRCh38)
19:35232714 (GRCh37)
Canonical SPDI:: NC_000019.10:34741808:G:A
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.34741809G>A, NC_000019.9:g.35232714G>A, NM_001029997.4:c.1428G>A, NM_001029997.3:c.1428G>A, XM_006723183.4:c.1428G>A, XM_006723183.3:c.1428G>A, XM_006723183.2:c.1428G>A, XM_006723183.1:c.1428G>A, XM_005258851.4:c.1416G>A, XM_005258851.3:c.1416G>A, XM_005258851.2:c.1416G>A, XM_005258851.1:c.1416G>A, XM_006723184.4:c.1413G>A, XM_006723184.3:c.1413G>A, XM_006723184.2:c.1413G>A, XM_006723184.1:c.1413G>A, XM_017026739.3:c.1425G>A, XM_017026739.2:c.1425G>A, XM_017026739.1:c.1425G>A, XM_005258849.3:c.1428G>A, XM_005258849.2:c.1428G>A, XM_005258849.1:c.1428G>A, XM_005258850.3:c.1425G>A, XM_005258850.2:c.1425G>A, XM_005258850.1:c.1425G>A, NM_001145665.2:c.1425G>A, NM_001145665.1:c.1425G>A, XM_047438747.1:c.1416G>A, XM_047438748.1:c.1413G>A

Select item 146934713814.

rs1469347138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34739179 (GRCh38)
19:35230084 (GRCh37)
Canonical SPDI:: NC_000019.10:34739178:C:T
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34739179C>T, NC_000019.9:g.35230084C>T, NM_001029997.4:c.41C>T, NM_001029997.3:c.41C>T, XM_006723183.4:c.41C>T, XM_006723183.3:c.41C>T, XM_006723183.2:c.41C>T, XM_006723183.1:c.41C>T, XM_005258851.4:c.41C>T, XM_005258851.3:c.41C>T, XM_005258851.2:c.41C>T, XM_005258851.1:c.41C>T, XM_006723184.4:c.41C>T, XM_006723184.3:c.41C>T, XM_006723184.2:c.41C>T, XM_006723184.1:c.41C>T, XM_017026739.3:c.41C>T, XM_017026739.2:c.41C>T, XM_017026739.1:c.41C>T, XM_005258849.3:c.41C>T, XM_005258849.2:c.41C>T, XM_005258849.1:c.41C>T, XM_005258850.3:c.41C>T, XM_005258850.2:c.41C>T, XM_005258850.1:c.41C>T, NM_001145665.2:c.41C>T, NM_001145665.1:c.41C>T, XM_047438747.1:c.41C>T, XM_047438748.1:c.41C>T, NP_001025168.2:p.Thr14Ile, XP_006723246.1:p.Thr14Ile, XP_005258908.1:p.Thr14Ile, XP_006723247.1:p.Thr14Ile, XP_016882228.1:p.Thr14Ile, XP_005258906.1:p.Thr14Ile, XP_005258907.1:p.Thr14Ile, NP_001139137.1:p.Thr14Ile, XP_047294703.1:p.Thr14Ile, XP_047294704.1:p.Thr14Ile

Select item 146926482115.

rs1469264821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:34741003 (GRCh38)
19:35231908 (GRCh37)
Canonical SPDI:: NC_000019.10:34741002:A:C
Gene:: ZNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741003A>C, NC_000019.9:g.35231908A>C, NM_001029997.4:c.622A>C, NM_001029997.3:c.622A>C, XM_006723183.4:c.622A>C, XM_006723183.3:c.622A>C, XM_006723183.2:c.622A>C, XM_006723183.1:c.622A>C, XM_005258851.4:c.610A>C, XM_005258851.3:c.610A>C, XM_005258851.2:c.610A>C, XM_005258851.1:c.610A>C, XM_006723184.4:c.607A>C, XM_006723184.3:c.607A>C, XM_006723184.2:c.607A>C, XM_006723184.1:c.607A>C, XM_017026739.3:c.619A>C, XM_017026739.2:c.619A>C, XM_017026739.1:c.619A>C, XM_005258849.3:c.622A>C, XM_005258849.2:c.622A>C, XM_005258849.1:c.622A>C, XM_005258850.3:c.619A>C, XM_005258850.2:c.619A>C, XM_005258850.1:c.619A>C, NM_001145665.2:c.619A>C, NM_001145665.1:c.619A>C, XM_047438747.1:c.610A>C, XM_047438748.1:c.607A>C, NP_001025168.2:p.Lys208Gln, XP_006723246.1:p.Lys208Gln, XP_005258908.1:p.Lys204Gln, XP_006723247.1:p.Lys203Gln, XP_016882228.1:p.Lys207Gln, XP_005258906.1:p.Lys208Gln, XP_005258907.1:p.Lys207Gln, NP_001139137.1:p.Lys207Gln, XP_047294703.1:p.Lys204Gln, XP_047294704.1:p.Lys203Gln

Select item 146652897316.

rs1466528973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:34741609 (GRCh38)
19:35232514 (GRCh37)
Canonical SPDI:: NC_000019.10:34741608:T:G
Gene:: ZNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34741609T>G, NC_000019.9:g.35232514T>G, NM_001029997.4:c.1228T>G, NM_001029997.3:c.1228T>G, XM_006723183.4:c.1228T>G, XM_006723183.3:c.1228T>G, XM_006723183.2:c.1228T>G, XM_006723183.1:c.1228T>G, XM_005258851.4:c.1216T>G, XM_005258851.3:c.1216T>G, XM_005258851.2:c.1216T>G, XM_005258851.1:c.1216T>G, XM_006723184.4:c.1213T>G, XM_006723184.3:c.1213T>G, XM_006723184.2:c.1213T>G, XM_006723184.1:c.1213T>G, XM_017026739.3:c.1225T>G, XM_017026739.2:c.1225T>G, XM_017026739.1:c.1225T>G, XM_005258849.3:c.1228T>G, XM_005258849.2:c.1228T>G, XM_005258849.1:c.1228T>G, XM_005258850.3:c.1225T>G, XM_005258850.2:c.1225T>G, XM_005258850.1:c.1225T>G, NM_001145665.2:c.1225T>G, NM_001145665.1:c.1225T>G, XM_047438747.1:c.1216T>G, XM_047438748.1:c.1213T>G, NP_001025168.2:p.Cys410Gly, XP_006723246.1:p.Cys410Gly, XP_005258908.1:p.Cys406Gly, XP_006723247.1:p.Cys405Gly, XP_016882228.1:p.Cys409Gly, XP_005258906.1:p.Cys410Gly, XP_005258907.1:p.Cys409Gly, NP_001139137.1:p.Cys409Gly, XP_047294703.1:p.Cys406Gly, XP_047294704.1:p.Cys405Gly

Select item 146160901017.

rs1461609010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:34740906 (GRCh38)
19:35231811 (GRCh37)
Canonical SPDI:: NC_000019.10:34740905:A:C,NC_000019.10:34740905:A:G
Gene:: ZNF181 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.34740906A>C, NC_000019.10:g.34740906A>G, NC_000019.9:g.35231811A>C, NC_000019.9:g.35231811A>G, NM_001029997.4:c.525A>C, NM_001029997.4:c.525A>G, NM_001029997.3:c.525A>C, NM_001029997.3:c.525A>G, XM_006723183.4:c.525A>C, XM_006723183.4:c.525A>G, XM_006723183.3:c.525A>C, XM_006723183.3:c.525A>G, XM_006723183.2:c.525A>C, XM_006723183.2:c.525A>G, XM_006723183.1:c.525A>C, XM_006723183.1:c.525A>G, XM_005258851.4:c.513A>C, XM_005258851.4:c.513A>G, XM_005258851.3:c.513A>C, XM_005258851.3:c.513A>G, XM_005258851.2:c.513A>C, XM_005258851.2:c.513A>G, XM_005258851.1:c.513A>C, XM_005258851.1:c.513A>G, XM_006723184.4:c.510A>C, XM_006723184.4:c.510A>G, XM_006723184.3:c.510A>C, XM_006723184.3:c.510A>G, XM_006723184.2:c.510A>C, XM_006723184.2:c.510A>G, XM_006723184.1:c.510A>C, XM_006723184.1:c.510A>G, XM_017026739.3:c.522A>C, XM_017026739.3:c.522A>G, XM_017026739.2:c.522A>C, XM_017026739.2:c.522A>G, XM_017026739.1:c.522A>C, XM_017026739.1:c.522A>G, XM_005258849.3:c.525A>C, XM_005258849.3:c.525A>G, XM_005258849.2:c.525A>C, XM_005258849.2:c.525A>G, XM_005258849.1:c.525A>C, XM_005258849.1:c.525A>G, XM_005258850.3:c.522A>C, XM_005258850.3:c.522A>G, XM_005258850.2:c.522A>C, XM_005258850.2:c.522A>G, XM_005258850.1:c.522A>C, XM_005258850.1:c.522A>G, NM_001145665.2:c.522A>C, NM_001145665.2:c.522A>G, NM_001145665.1:c.522A>C, NM_001145665.1:c.522A>G, XM_047438747.1:c.513A>C, XM_047438747.1:c.513A>G, XM_047438748.1:c.510A>C, XM_047438748.1:c.510A>G, NP_001025168.2:p.Lys175Asn, XP_006723246.1:p.Lys175Asn, XP_005258908.1:p.Lys171Asn, XP_006723247.1:p.Lys170Asn, XP_016882228.1:p.Lys174Asn, XP_005258906.1:p.Lys175Asn, XP_005258907.1:p.Lys174Asn, NP_001139137.1:p.Lys174Asn, XP_047294703.1:p.Lys171Asn, XP_047294704.1:p.Lys170Asn

Select item 146070591718.

rs1460705917 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:34741893 (GRCh38)
19:35232799 (GRCh37)
Canonical SPDI:: NC_000019.10:34741893:A:AA
Gene:: ZNF181 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.34741894dup, NC_000019.9:g.35232799dup, NM_001029997.4:c.1513dup, NM_001029997.3:c.1513dup, XM_006723183.4:c.1513dup, XM_006723183.3:c.1513dup, XM_006723183.2:c.1513dup, XM_006723183.1:c.1513dup, XM_005258851.4:c.1501dup, XM_005258851.3:c.1501dup, XM_005258851.2:c.1501dup, XM_005258851.1:c.1501dup, XM_006723184.4:c.1498dup, XM_006723184.3:c.1498dup, XM_006723184.2:c.1498dup, XM_006723184.1:c.1498dup, XM_017026739.3:c.1510dup, XM_017026739.2:c.1510dup, XM_017026739.1:c.1510dup, XM_005258849.3:c.1513dup, XM_005258849.2:c.1513dup, XM_005258849.1:c.1513dup, XM_005258850.3:c.1510dup, XM_005258850.2:c.1510dup, XM_005258850.1:c.1510dup, NM_001145665.2:c.1510dup, NM_001145665.1:c.1510dup, XM_047438747.1:c.1501dup, XM_047438748.1:c.1498dup, NP_001025168.2:p.Thr505fs, XP_006723246.1:p.Thr505fs, XP_005258908.1:p.Thr501fs, XP_006723247.1:p.Thr500fs, XP_016882228.1:p.Thr504fs, XP_005258906.1:p.Thr505fs, XP_005258907.1:p.Thr504fs, NP_001139137.1:p.Thr504fs, XP_047294703.1:p.Thr501fs, XP_047294704.1:p.Thr500fs

Select item 145959723119.

rs1459597231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34739573 (GRCh38)
19:35230478 (GRCh37)
Canonical SPDI:: NC_000019.10:34739572:A:G
Gene:: ZNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34739573A>G, NC_000019.9:g.35230478A>G, NM_001029997.4:c.181A>G, NM_001029997.3:c.181A>G, XM_006723183.4:c.181A>G, XM_006723183.3:c.181A>G, XM_006723183.2:c.181A>G, XM_006723183.1:c.181A>G, XM_005258851.4:c.181A>G, XM_005258851.3:c.181A>G, XM_005258851.2:c.181A>G, XM_005258851.1:c.181A>G, XM_006723184.4:c.178A>G, XM_006723184.3:c.178A>G, XM_006723184.2:c.178A>G, XM_006723184.1:c.178A>G, XM_017026739.3:c.178A>G, XM_017026739.2:c.178A>G, XM_017026739.1:c.178A>G, XM_005258849.3:c.181A>G, XM_005258849.2:c.181A>G, XM_005258849.1:c.181A>G, XM_005258850.3:c.178A>G, XM_005258850.2:c.178A>G, XM_005258850.1:c.178A>G, NM_001145665.2:c.178A>G, NM_001145665.1:c.178A>G, XM_047438747.1:c.181A>G, XM_047438748.1:c.178A>G, NP_001025168.2:p.Lys61Glu, XP_006723246.1:p.Lys61Glu, XP_005258908.1:p.Lys61Glu, XP_006723247.1:p.Lys60Glu, XP_016882228.1:p.Lys60Glu, XP_005258906.1:p.Lys61Glu, XP_005258907.1:p.Lys60Glu, NP_001139137.1:p.Lys60Glu, XP_047294703.1:p.Lys61Glu, XP_047294704.1:p.Lys60Glu

Select item 145918498120.

rs1459184981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:34739264 (GRCh38)
19:35230169 (GRCh37)
Canonical SPDI:: NC_000019.10:34739263:T:C
Gene:: ZNF181 (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_000019.10:g.34739264T>C, NC_000019.9:g.35230169T>C, NM_001029997.4:c.126T>C, NM_001029997.3:c.126T>C, XM_006723183.4:c.126T>C, XM_006723183.3:c.126T>C, XM_006723183.2:c.126T>C, XM_006723183.1:c.126T>C, XM_005258851.4:c.126T>C, XM_005258851.3:c.126T>C, XM_005258851.2:c.126T>C, XM_005258851.1:c.126T>C, XM_006723184.4:c.126T>C, XM_006723184.3:c.126T>C, XM_006723184.2:c.126T>C, XM_006723184.1:c.126T>C, XM_017026739.3:c.126T>C, XM_017026739.2:c.126T>C, XM_017026739.1:c.126T>C, XM_005258849.3:c.126T>C, XM_005258849.2:c.126T>C, XM_005258849.1:c.126T>C, XM_005258850.3:c.126T>C, XM_005258850.2:c.126T>C, XM_005258850.1:c.126T>C, NM_001145665.2:c.126T>C, NM_001145665.1:c.126T>C, XM_047438747.1:c.126T>C, XM_047438748.1:c.126T>C

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