SNP Links for Protein (Select 295842342) - SNP

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Links from Protein

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Select item 14909195371.

rs1490919537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64921923 (GRCh38)
X:64141803 (GRCh37)
Canonical SPDI:: NC_000023.11:64921922:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.64921923G>A, NC_000023.10:g.64141803G>A, NG_021200.2:g.117822C>T, NM_018684.4:c.119C>T, NM_018684.3:c.119C>T, NM_001178032.3:c.50C>T, NM_001178032.2:c.50C>T, NM_001178033.3:c.119C>T, NM_001178033.2:c.119C>T, NR_045044.2:n.447C>T, NR_045044.1:n.530C>T, NM_001243804.2:c.50C>T, NM_001243804.1:c.50C>T, NP_061154.1:p.Ser40Leu, NP_001171503.1:p.Ser17Leu, NP_001171504.1:p.Ser40Leu, NP_001230733.1:p.Ser17Leu

Select item 14876615362.

rs1487661536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64976366 (GRCh38)
X:64196246 (GRCh37)
Canonical SPDI:: NC_000023.11:64976365:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.64976366C>T, NC_000023.10:g.64196246C>T, NG_021200.2:g.63379G>A, NM_018684.4:c.12G>A, NM_018684.3:c.12G>A, NM_001178033.3:c.12G>A, NM_001178033.2:c.12G>A, NR_045044.2:n.85G>A, NR_045044.1:n.168G>A

Select item 14845609053.

rs1484560905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64920163 (GRCh38)
X:64140043 (GRCh37)
Canonical SPDI:: NC_000023.11:64920162:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64920163C>T, NC_000023.10:g.64140043C>T, NG_021200.2:g.119582G>A, NM_018684.4:c.316G>A, NM_018684.3:c.316G>A, NM_001178032.3:c.247G>A, NM_001178032.2:c.247G>A, NM_001178033.3:c.316G>A, NM_001178033.2:c.316G>A, NR_045044.2:n.644G>A, NR_045044.1:n.727G>A, NM_001243804.2:c.247G>A, NM_001243804.1:c.247G>A, NP_061154.1:p.Glu106Lys, NP_001171503.1:p.Glu83Lys, NP_001171504.1:p.Glu106Lys, NP_001230733.1:p.Glu83Lys

Select item 14785279374.

rs1478527937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64921933 (GRCh38)
X:64141813 (GRCh37)
Canonical SPDI:: NC_000023.11:64921932:C:T
Gene:: ZC4H2 (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=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.64921933C>T, NC_000023.10:g.64141813C>T, NG_021200.2:g.117812G>A, NM_018684.4:c.109G>A, NM_018684.3:c.109G>A, NM_001178032.3:c.40G>A, NM_001178032.2:c.40G>A, NM_001178033.3:c.109G>A, NM_001178033.2:c.109G>A, NR_045044.2:n.437G>A, NR_045044.1:n.520G>A, NM_001243804.2:c.40G>A, NM_001243804.1:c.40G>A, NP_061154.1:p.Ala37Thr, NP_001171503.1:p.Ala14Thr, NP_001171504.1:p.Ala37Thr, NP_001230733.1:p.Ala14Thr

Select item 14759534865.

rs1475953486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64917765 (GRCh38)
X:64137645 (GRCh37)
Canonical SPDI:: NC_000023.11:64917764:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64917765C>T, NC_000023.10:g.64137645C>T, NG_021200.2:g.121980G>A, NM_018684.4:c.*18G>A, NM_018684.3:c.*18G>A, NM_001178032.3:c.*18G>A, NM_001178032.2:c.*18G>A, NM_001178033.3:c.530G>A, NM_001178033.2:c.530G>A, NR_045044.2:n.1021G>A, NR_045044.1:n.1104G>A, NM_001243804.2:c.*18G>A, NM_001243804.1:c.*18G>A

Select item 14720315746.

rs1472031574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64920187 (GRCh38)
X:64140067 (GRCh37)
Canonical SPDI:: NC_000023.11:64920186:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000029/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.64920187G>A, NC_000023.10:g.64140067G>A, NG_021200.2:g.119558C>T, NM_018684.4:c.292C>T, NM_018684.3:c.292C>T, NM_001178032.3:c.223C>T, NM_001178032.2:c.223C>T, NM_001178033.3:c.292C>T, NM_001178033.2:c.292C>T, NR_045044.2:n.620C>T, NR_045044.1:n.703C>T, NM_001243804.2:c.223C>T, NM_001243804.1:c.223C>T, NP_061154.1:p.His98Tyr, NP_001171503.1:p.His75Tyr, NP_001171504.1:p.His98Tyr, NP_001230733.1:p.His75Tyr

Select item 14536765697.

rs1453676569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:64976373 (GRCh38)
X:64196253 (GRCh37)
Canonical SPDI:: NC_000023.11:64976372:G:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.64976373G>T, NC_000023.10:g.64196253G>T, NG_021200.2:g.63372C>A, NM_018684.4:c.5C>A, NM_018684.3:c.5C>A, NM_001178033.3:c.5C>A, NM_001178033.2:c.5C>A, NR_045044.2:n.78C>A, NR_045044.1:n.161C>A, NP_061154.1:p.Ala2Glu, NP_001171504.1:p.Ala2Glu

Select item 14480384278.

rs1448038427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64917895 (GRCh38)
X:64137775 (GRCh37)
Canonical SPDI:: NC_000023.11:64917894:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.64917895G>A, NC_000023.10:g.64137775G>A, NG_021200.2:g.121850C>T, NM_018684.4:c.563C>T, NM_018684.3:c.563C>T, NM_001178032.3:c.494C>T, NM_001178032.2:c.494C>T, NM_001178033.3:c.400C>T, NM_001178033.2:c.400C>T, NR_045044.2:n.891C>T, NR_045044.1:n.974C>T, NM_001243804.2:c.494C>T, NM_001243804.1:c.494C>T, NP_061154.1:p.Ala188Val, NP_001171503.1:p.Ala165Val, NP_001171504.1:p.Pro134Ser, NP_001230733.1:p.Ala165Val

Select item 14459826429.

rs1445982642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64917791 (GRCh38)
X:64137671 (GRCh37)
Canonical SPDI:: NC_000023.11:64917790:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.64917791C>T, NC_000023.10:g.64137671C>T, NG_021200.2:g.121954G>A, NM_018684.4:c.667G>A, NM_018684.3:c.667G>A, NM_001178032.3:c.598G>A, NM_001178032.2:c.598G>A, NM_001178033.3:c.504G>A, NM_001178033.2:c.504G>A, NR_045044.2:n.995G>A, NR_045044.1:n.1078G>A, NM_001243804.2:c.598G>A, NM_001243804.1:c.598G>A, NP_061154.1:p.Asp223Asn, NP_001171503.1:p.Asp200Asn, NP_001230733.1:p.Asp200Asn

Select item 142898497110.

rs1428984971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64976338 (GRCh38)
X:64196218 (GRCh37)
Canonical SPDI:: NC_000023.11:64976337:T:C
Gene:: ZC4H2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64976338T>C, NC_000023.10:g.64196218T>C, NG_021200.2:g.63407A>G, NM_018684.4:c.40A>G, NM_018684.3:c.40A>G, NM_001178033.3:c.40A>G, NM_001178033.2:c.40A>G, NR_045044.2:n.113A>G, NR_045044.1:n.196A>G, NP_061154.1:p.Ile14Val, NP_001171504.1:p.Ile14Val

Select item 142195860111.

rs1421958601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64921919 (GRCh38)
X:64141799 (GRCh37)
Canonical SPDI:: NC_000023.11:64921918:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.64921919C>T, NC_000023.10:g.64141799C>T, NG_021200.2:g.117826G>A, NM_018684.4:c.123G>A, NM_018684.3:c.123G>A, NM_001178032.3:c.54G>A, NM_001178032.2:c.54G>A, NM_001178033.3:c.123G>A, NM_001178033.2:c.123G>A, NR_045044.2:n.451G>A, NR_045044.1:n.534G>A, NM_001243804.2:c.54G>A, NM_001243804.1:c.54G>A

Select item 142146246912.

rs1421462469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64920213 (GRCh38)
X:64140093 (GRCh37)
Canonical SPDI:: NC_000023.11:64920212:T:C
Gene:: ZC4H2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64920213T>C, NC_000023.10:g.64140093T>C, NG_021200.2:g.119532A>G, NM_018684.4:c.266A>G, NM_018684.3:c.266A>G, NM_001178032.3:c.197A>G, NM_001178032.2:c.197A>G, NM_001178033.3:c.266A>G, NM_001178033.2:c.266A>G, NR_045044.2:n.594A>G, NR_045044.1:n.677A>G, NM_001243804.2:c.197A>G, NM_001243804.1:c.197A>G, NP_061154.1:p.Lys89Arg, NP_001171503.1:p.Lys66Arg, NP_001171504.1:p.Lys89Arg, NP_001230733.1:p.Lys66Arg

Select item 141688451313.

rs1416884513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:64917834 (GRCh38)
X:64137714 (GRCh37)
Canonical SPDI:: NC_000023.11:64917833:G:A,NC_000023.11:64917833:G:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.64917834G>A, NC_000023.11:g.64917834G>T, NC_000023.10:g.64137714G>A, NC_000023.10:g.64137714G>T, NG_021200.2:g.121911C>T, NG_021200.2:g.121911C>A, NM_018684.4:c.624C>T, NM_018684.4:c.624C>A, NM_018684.3:c.624C>T, NM_018684.3:c.624C>A, NM_001178032.3:c.555C>T, NM_001178032.3:c.555C>A, NM_001178032.2:c.555C>T, NM_001178032.2:c.555C>A, NM_001178033.3:c.461C>T, NM_001178033.3:c.461C>A, NM_001178033.2:c.461C>T, NM_001178033.2:c.461C>A, NR_045044.2:n.952C>T, NR_045044.2:n.952C>A, NR_045044.1:n.1035C>T, NR_045044.1:n.1035C>A, NM_001243804.2:c.555C>T, NM_001243804.2:c.555C>A, NM_001243804.1:c.555C>T, NM_001243804.1:c.555C>A, NP_001171504.1:p.Pro154Leu, NP_001171504.1:p.Pro154Gln

Select item 137784946214.

rs1377849462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64921934 (GRCh38)
X:64141814 (GRCh37)
Canonical SPDI:: NC_000023.11:64921933:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64921934C>T, NC_000023.10:g.64141814C>T, NG_021200.2:g.117811G>A, NM_018684.4:c.108G>A, NM_018684.3:c.108G>A, NM_001178032.3:c.39G>A, NM_001178032.2:c.39G>A, NM_001178033.3:c.108G>A, NM_001178033.2:c.108G>A, NR_045044.2:n.436G>A, NR_045044.1:n.519G>A, NM_001243804.2:c.39G>A, NM_001243804.1:c.39G>A

Select item 137631899915.

rs1376318999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64920253 (GRCh38)
X:64140133 (GRCh37)
Canonical SPDI:: NC_000023.11:64920252:T:C
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64920253T>C, NC_000023.10:g.64140133T>C, NG_021200.2:g.119492A>G, NM_018684.4:c.226A>G, NM_018684.3:c.226A>G, NM_001178032.3:c.157A>G, NM_001178032.2:c.157A>G, NM_001178033.3:c.226A>G, NM_001178033.2:c.226A>G, NR_045044.2:n.554A>G, NR_045044.1:n.637A>G, NM_001243804.2:c.157A>G, NM_001243804.1:c.157A>G, NP_061154.1:p.Met76Val, NP_001171503.1:p.Met53Val, NP_001171504.1:p.Met76Val, NP_001230733.1:p.Met53Val

Select item 136166936416.

rs1361669364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:64920148 (GRCh38)
X:64140028 (GRCh37)
Canonical SPDI:: NC_000023.11:64920147:G:A,NC_000023.11:64920147:G:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000072/19 (TOPMED)
HGVS:: NC_000023.11:g.64920148G>A, NC_000023.11:g.64920148G>T, NC_000023.10:g.64140028G>A, NC_000023.10:g.64140028G>T, NG_021200.2:g.119597C>T, NG_021200.2:g.119597C>A, NM_018684.4:c.331C>T, NM_018684.4:c.331C>A, NM_018684.3:c.331C>T, NM_018684.3:c.331C>A, NM_001178032.3:c.262C>T, NM_001178032.3:c.262C>A, NM_001178032.2:c.262C>T, NM_001178032.2:c.262C>A, NM_001178033.3:c.331C>T, NM_001178033.3:c.331C>A, NM_001178033.2:c.331C>T, NM_001178033.2:c.331C>A, NR_045044.2:n.659C>T, NR_045044.2:n.659C>A, NR_045044.1:n.742C>T, NR_045044.1:n.742C>A, NM_001243804.2:c.262C>T, NM_001243804.2:c.262C>A, NM_001243804.1:c.262C>T, NM_001243804.1:c.262C>A, NP_061154.1:p.Leu111Met, NP_001171503.1:p.Leu88Met, NP_001171504.1:p.Leu111Met, NP_001230733.1:p.Leu88Met

Select item 135979777217.

rs1359797772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64920086 (GRCh38)
X:64139966 (GRCh37)
Canonical SPDI:: NC_000023.11:64920085:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.64920086G>A, NC_000023.10:g.64139966G>A, NG_021200.2:g.119659C>T, NM_018684.4:c.393C>T, NM_018684.3:c.393C>T, NM_001178032.3:c.324C>T, NM_001178032.2:c.324C>T, NM_001178033.3:c.393C>T, NM_001178033.2:c.393C>T, NR_045044.2:n.721C>T, NR_045044.1:n.804C>T, NM_001243804.2:c.324C>T, NM_001243804.1:c.324C>T

Select item 134705151518.

rs1347051515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64920195 (GRCh38)
X:64140075 (GRCh37)
Canonical SPDI:: NC_000023.11:64920194:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.64920195C>T, NC_000023.10:g.64140075C>T, NG_021200.2:g.119550G>A, NM_018684.4:c.284G>A, NM_018684.3:c.284G>A, NM_001178032.3:c.215G>A, NM_001178032.2:c.215G>A, NM_001178033.3:c.284G>A, NM_001178033.2:c.284G>A, NR_045044.2:n.612G>A, NR_045044.1:n.695G>A, NM_001243804.2:c.215G>A, NM_001243804.1:c.215G>A, NP_061154.1:p.Arg95Lys, NP_001171503.1:p.Arg72Lys, NP_001171504.1:p.Arg95Lys, NP_001230733.1:p.Arg72Lys

Select item 133702374819.

rs1337023748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64917776 (GRCh38)
X:64137656 (GRCh37)
Canonical SPDI:: NC_000023.11:64917775:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.64917776C>T, NC_000023.10:g.64137656C>T, NG_021200.2:g.121969G>A, NM_018684.4:c.*7G>A, NM_018684.3:c.*7G>A, NM_001178032.3:c.*7G>A, NM_001178032.2:c.*7G>A, NM_001178033.3:c.519G>A, NM_001178033.2:c.519G>A, NR_045044.2:n.1010G>A, NR_045044.1:n.1093G>A, NM_001243804.2:c.*7G>A, NM_001243804.1:c.*7G>A

Select item 133652568520.

rs1336525685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:64917825 (GRCh38)
X:64137705 (GRCh37)
Canonical SPDI:: NC_000023.11:64917824:C:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.64917825C>A, NC_000023.10:g.64137705C>A, NG_021200.2:g.121920G>T, NM_018684.4:c.633G>T, NM_018684.3:c.633G>T, NM_001178032.3:c.564G>T, NM_001178032.2:c.564G>T, NM_001178033.3:c.470G>T, NM_001178033.2:c.470G>T, NR_045044.2:n.961G>T, NR_045044.1:n.1044G>T, NM_001243804.2:c.564G>T, NM_001243804.1:c.564G>T, NP_001171504.1:p.Gly157Val

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