SNP Links for Protein (Select 745399096) - SNP

Select item 14851160561.

rs1485116056 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:153804666 (GRCh38)
X:153070121 (GRCh37)
Canonical SPDI:: NC_000023.11:153804661:AGAGAG:AGAG
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153804662AG[2], NC_000023.10:g.153070117AG[2], NW_003871103.3:g.1238645AG[2], NM_032512.5:c.1000_1001del, NM_032512.4:c.1000_1001del, NM_032512.3:c.1000_1001del, NM_032512.2:c.1000_1001del, NM_001303513.3:c.712_713del, NM_001303513.2:c.712_713del, NM_001303513.1:c.712_713del, NM_001303512.2:c.1018_1019del, NM_001303512.1:c.1018_1019del, NM_001303515.2:c.775_776del, NM_001303515.1:c.775_776del, NM_001303516.2:c.757_758del, NM_001303516.1:c.757_758del, NM_001303514.2:c.673_674del, NM_001303514.1:c.673_674del, NP_115901.2:p.Leu334fs, NP_001290442.1:p.Leu238fs, NP_001290441.1:p.Leu340fs, NP_001290444.1:p.Leu259fs, NP_001290445.1:p.Leu253fs, NP_001290443.1:p.Leu225fs

Select item 14850455612.

rs1485045561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153806104 (GRCh38)
X:153071559 (GRCh37)
Canonical SPDI:: NC_000023.11:153806103:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000038/4 (GnomAD)
A=0.000042/11 (TOPMED)
A=0.000135/2 (TOMMO)
HGVS:: NC_000023.11:g.153806104G>A, NC_000023.10:g.153071559G>A, NW_003871103.3:g.1240087G>A, NM_032512.5:c.516C>T, NM_032512.4:c.516C>T, NM_032512.3:c.516C>T, NM_032512.2:c.516C>T, NM_001303513.3:c.228C>T, NM_001303513.2:c.228C>T, NM_001303513.1:c.228C>T, NM_001303512.2:c.534C>T, NM_001303512.1:c.534C>T, NM_001303515.2:c.291C>T, NM_001303515.1:c.291C>T, NM_001303516.2:c.273C>T, NM_001303516.1:c.273C>T, NM_001303514.2:c.189C>T, NM_001303514.1:c.189C>T

Select item 14847919163.

rs1484791916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153804055 (GRCh38)
X:153069510 (GRCh37)
Canonical SPDI:: NC_000023.11:153804054:G:A,NC_000023.11:153804054:G:C
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153804055G>A, NC_000023.11:g.153804055G>C, NC_000023.10:g.153069510G>A, NC_000023.10:g.153069510G>C, NW_003871103.3:g.1238038G>A, NW_003871103.3:g.1238038G>C, NM_032512.5:c.1608C>T, NM_032512.5:c.1608C>G, NM_032512.4:c.1608C>T, NM_032512.4:c.1608C>G, NM_032512.3:c.1608C>T, NM_032512.3:c.1608C>G, NM_032512.2:c.1608C>T, NM_032512.2:c.1608C>G, NM_001303513.3:c.1320C>T, NM_001303513.3:c.1320C>G, NM_001303513.2:c.1320C>T, NM_001303513.2:c.1320C>G, NM_001303513.1:c.1320C>T, NM_001303513.1:c.1320C>G, NM_001303512.2:c.1626C>T, NM_001303512.2:c.1626C>G, NM_001303512.1:c.1626C>T, NM_001303512.1:c.1626C>G, NM_001303515.2:c.1383C>T, NM_001303515.2:c.1383C>G, NM_001303515.1:c.1383C>T, NM_001303515.1:c.1383C>G, NM_001303516.2:c.1365C>T, NM_001303516.2:c.1365C>G, NM_001303516.1:c.1365C>T, NM_001303516.1:c.1365C>G, NM_001303514.2:c.1281C>T, NM_001303514.2:c.1281C>G, NM_001303514.1:c.1281C>T, NM_001303514.1:c.1281C>G

Select item 14843956434.

rs1484395643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153803958 (GRCh38)
X:153069413 (GRCh37)
Canonical SPDI:: NC_000023.11:153803957:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.153803958G>A, NC_000023.10:g.153069413G>A, NW_003871103.3:g.1237941G>A, NM_032512.5:c.1705C>T, NM_032512.4:c.1705C>T, NM_032512.3:c.1705C>T, NM_032512.2:c.1705C>T, NM_001303513.3:c.1417C>T, NM_001303513.2:c.1417C>T, NM_001303513.1:c.1417C>T, NM_001303512.2:c.1723C>T, NM_001303512.1:c.1723C>T, NM_001303515.2:c.1480C>T, NM_001303515.1:c.1480C>T, NM_001303516.2:c.1462C>T, NM_001303516.1:c.1462C>T, NM_001303514.2:c.1378C>T, NM_001303514.1:c.1378C>T, NP_115901.2:p.Arg569Trp, NP_001290442.1:p.Arg473Trp, NP_001290441.1:p.Arg575Trp, NP_001290444.1:p.Arg494Trp, NP_001290445.1:p.Arg488Trp, NP_001290443.1:p.Arg460Trp

Select item 14835515705.

rs1483551570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153830256 (GRCh38)
X:153095711 (GRCh37)
Canonical SPDI:: NC_000023.11:153830255:A:G
Gene:: PDZD4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153830256A>G, NC_000023.10:g.153095711A>G, NW_003871103.3:g.1264239A>G, NM_032512.5:c.43T>C, NM_032512.4:c.43T>C, NM_032512.3:c.43T>C, NM_032512.2:c.43T>C, NM_001303513.3:c.-507T>C, NM_001303513.2:c.-507T>C, NM_001303513.1:c.-507T>C, NM_001303512.2:c.43T>C, NM_001303512.1:c.43T>C, NM_001303514.2:c.43T>C, NM_001303514.1:c.43T>C, NP_115901.2:p.Tyr15His, NP_001290441.1:p.Tyr15His, NP_001290443.1:p.Tyr15His

Select item 14743573756.

rs1474357375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: X:153804150 (GRCh38)
X:153069605 (GRCh37)
Canonical SPDI:: NC_000023.11:153804149:T:A,NC_000023.11:153804149:T:G
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153804150T>A, NC_000023.11:g.153804150T>G, NC_000023.10:g.153069605T>A, NC_000023.10:g.153069605T>G, NW_003871103.3:g.1238133T>A, NW_003871103.3:g.1238133T>G, NM_032512.5:c.1513A>T, NM_032512.5:c.1513A>C, NM_032512.4:c.1513A>T, NM_032512.4:c.1513A>C, NM_032512.3:c.1513A>T, NM_032512.3:c.1513A>C, NM_032512.2:c.1513A>T, NM_032512.2:c.1513A>C, NM_001303513.3:c.1225A>T, NM_001303513.3:c.1225A>C, NM_001303513.2:c.1225A>T, NM_001303513.2:c.1225A>C, NM_001303513.1:c.1225A>T, NM_001303513.1:c.1225A>C, NM_001303512.2:c.1531A>T, NM_001303512.2:c.1531A>C, NM_001303512.1:c.1531A>T, NM_001303512.1:c.1531A>C, NM_001303515.2:c.1288A>T, NM_001303515.2:c.1288A>C, NM_001303515.1:c.1288A>T, NM_001303515.1:c.1288A>C, NM_001303516.2:c.1270A>T, NM_001303516.2:c.1270A>C, NM_001303516.1:c.1270A>T, NM_001303516.1:c.1270A>C, NM_001303514.2:c.1186A>T, NM_001303514.2:c.1186A>C, NM_001303514.1:c.1186A>T, NM_001303514.1:c.1186A>C, NP_115901.2:p.Thr505Ser, NP_115901.2:p.Thr505Pro, NP_001290442.1:p.Thr409Ser, NP_001290442.1:p.Thr409Pro, NP_001290441.1:p.Thr511Ser, NP_001290441.1:p.Thr511Pro, NP_001290444.1:p.Thr430Ser, NP_001290444.1:p.Thr430Pro, NP_001290445.1:p.Thr424Ser, NP_001290445.1:p.Thr424Pro, NP_001290443.1:p.Thr396Ser, NP_001290443.1:p.Thr396Pro

Select item 14724638987.

rs1472463898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153807316 (GRCh38)
X:153072771 (GRCh37)
Canonical SPDI:: NC_000023.11:153807315:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153807316G>A, NC_000023.10:g.153072771G>A, NW_003871103.3:g.1241299G>A, NM_032512.5:c.350C>T, NM_032512.4:c.350C>T, NM_032512.3:c.350C>T, NM_032512.2:c.350C>T, NM_001303513.3:c.62C>T, NM_001303513.2:c.62C>T, NM_001303513.1:c.62C>T, NM_001303512.2:c.368C>T, NM_001303512.1:c.368C>T, NM_001303515.2:c.125C>T, NM_001303515.1:c.125C>T, NM_001303516.2:c.107C>T, NM_001303516.1:c.107C>T, NP_115901.2:p.Pro117Leu, NP_001290442.1:p.Pro21Leu, NP_001290441.1:p.Pro123Leu, NP_001290444.1:p.Pro42Leu, NP_001290445.1:p.Pro36Leu

Select item 14688954538.

rs1468895453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:153804648 (GRCh38)
X:153070103 (GRCh37)
Canonical SPDI:: NC_000023.11:153804647:C:A,NC_000023.11:153804647:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.153804648C>A, NC_000023.11:g.153804648C>T, NC_000023.10:g.153070103C>A, NC_000023.10:g.153070103C>T, NW_003871103.3:g.1238631C>A, NW_003871103.3:g.1238631C>T, NM_032512.5:c.1015G>T, NM_032512.5:c.1015G>A, NM_032512.4:c.1015G>T, NM_032512.4:c.1015G>A, NM_032512.3:c.1015G>T, NM_032512.3:c.1015G>A, NM_032512.2:c.1015G>T, NM_032512.2:c.1015G>A, NM_001303513.3:c.727G>T, NM_001303513.3:c.727G>A, NM_001303513.2:c.727G>T, NM_001303513.2:c.727G>A, NM_001303513.1:c.727G>T, NM_001303513.1:c.727G>A, NM_001303512.2:c.1033G>T, NM_001303512.2:c.1033G>A, NM_001303512.1:c.1033G>T, NM_001303512.1:c.1033G>A, NM_001303515.2:c.790G>T, NM_001303515.2:c.790G>A, NM_001303515.1:c.790G>T, NM_001303515.1:c.790G>A, NM_001303516.2:c.772G>T, NM_001303516.2:c.772G>A, NM_001303516.1:c.772G>T, NM_001303516.1:c.772G>A, NM_001303514.2:c.688G>T, NM_001303514.2:c.688G>A, NM_001303514.1:c.688G>T, NM_001303514.1:c.688G>A, NP_115901.2:p.Ala339Ser, NP_115901.2:p.Ala339Thr, NP_001290442.1:p.Ala243Ser, NP_001290442.1:p.Ala243Thr, NP_001290441.1:p.Ala345Ser, NP_001290441.1:p.Ala345Thr, NP_001290444.1:p.Ala264Ser, NP_001290444.1:p.Ala264Thr, NP_001290445.1:p.Ala258Ser, NP_001290445.1:p.Ala258Thr, NP_001290443.1:p.Ala230Ser, NP_001290443.1:p.Ala230Thr

Select item 14683340689.

rs1468334068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153806077 (GRCh38)
X:153071532 (GRCh37)
Canonical SPDI:: NC_000023.11:153806076:G:T
Gene:: PDZD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153806077G>T, NC_000023.10:g.153071532G>T, NW_003871103.3:g.1240060G>T, NM_032512.5:c.543C>A, NM_032512.4:c.543C>A, NM_032512.3:c.543C>A, NM_032512.2:c.543C>A, NM_001303513.3:c.255C>A, NM_001303513.2:c.255C>A, NM_001303513.1:c.255C>A, NM_001303512.2:c.561C>A, NM_001303512.1:c.561C>A, NM_001303515.2:c.318C>A, NM_001303515.1:c.318C>A, NM_001303516.2:c.300C>A, NM_001303516.1:c.300C>A, NM_001303514.2:c.216C>A, NM_001303514.1:c.216C>A

Select item 146709437910.

rs1467094379 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCGC>- [Show Flanks]
Chromosome:: X:153803821 (GRCh38)
X:153069276 (GRCh37)
Canonical SPDI:: NC_000023.11:153803814:GGCCGCGGCCGC:GGCCGC
Gene:: PDZD4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGCCGCGGCCGC=0./0 (ALFA)
HGVS:: NC_000023.11:g.153803815GGCCGC[1], NC_000023.10:g.153069270GGCCGC[1], NW_003871103.3:g.1237798GGCCGC[1], NM_032512.5:c.1837GCGGCC[1], NM_032512.4:c.1837GCGGCC[1], NM_032512.3:c.1837GCGGCC[1], NM_032512.2:c.1837GCGGCC[1], NM_001303513.3:c.1549GCGGCC[1], NM_001303513.2:c.1549GCGGCC[1], NM_001303513.1:c.1549GCGGCC[1], NM_001303512.2:c.1855GCGGCC[1], NM_001303512.1:c.1855GCGGCC[1], NM_001303515.2:c.1612GCGGCC[1], NM_001303515.1:c.1612GCGGCC[1], NM_001303516.2:c.1594GCGGCC[1], NM_001303516.1:c.1594GCGGCC[1], NM_001303514.2:c.1510GCGGCC[1], NM_001303514.1:c.1510GCGGCC[1], NP_115901.2:p.Ala615_Ala616del, NP_001290442.1:p.Ala519_Ala520del, NP_001290441.1:p.Ala621_Ala622del, NP_001290444.1:p.Ala540_Ala541del, NP_001290445.1:p.Ala534_Ala535del, NP_001290443.1:p.Ala506_Ala507del

Select item 146647020811.

rs1466470208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153803762 (GRCh38)
X:153069217 (GRCh37)
Canonical SPDI:: NC_000023.11:153803761:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153803762C>T, NC_000023.10:g.153069217C>T, NW_003871103.3:g.1237745C>T, NM_032512.5:c.1901G>A, NM_032512.4:c.1901G>A, NM_032512.3:c.1901G>A, NM_032512.2:c.1901G>A, NM_001303513.3:c.1613G>A, NM_001303513.2:c.1613G>A, NM_001303513.1:c.1613G>A, NM_001303512.2:c.1919G>A, NM_001303512.1:c.1919G>A, NM_001303515.2:c.1676G>A, NM_001303515.1:c.1676G>A, NM_001303516.2:c.1658G>A, NM_001303516.1:c.1658G>A, NM_001303514.2:c.1574G>A, NM_001303514.1:c.1574G>A, NP_115901.2:p.Arg634His, NP_001290442.1:p.Arg538His, NP_001290441.1:p.Arg640His, NP_001290444.1:p.Arg559His, NP_001290445.1:p.Arg553His, NP_001290443.1:p.Arg525His

Select item 145843613512.

rs1458436135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153808485 (GRCh38)
X:153073940 (GRCh37)
Canonical SPDI:: NC_000023.11:153808484:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153808485C>T, NC_000023.10:g.153073940C>T, NW_003871103.3:g.1242468C>T, NM_032512.5:c.171G>A, NM_032512.4:c.171G>A, NM_032512.3:c.171G>A, NM_032512.2:c.171G>A, NM_001303513.3:c.-379G>A, NM_001303513.2:c.-379G>A, NM_001303513.1:c.-379G>A, NM_001303512.2:c.171G>A, NM_001303512.1:c.171G>A, NM_001303515.2:c.-73G>A, NM_001303515.1:c.-73G>A, NM_001303516.2:c.-73G>A, NM_001303516.1:c.-73G>A

Select item 145830485113.

rs1458304851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153804125 (GRCh38)
X:153069580 (GRCh37)
Canonical SPDI:: NC_000023.11:153804124:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000009/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.153804125G>A, NC_000023.10:g.153069580G>A, NW_003871103.3:g.1238108G>A, NM_032512.5:c.1538C>T, NM_032512.4:c.1538C>T, NM_032512.3:c.1538C>T, NM_032512.2:c.1538C>T, NM_001303513.3:c.1250C>T, NM_001303513.2:c.1250C>T, NM_001303513.1:c.1250C>T, NM_001303512.2:c.1556C>T, NM_001303512.1:c.1556C>T, NM_001303515.2:c.1313C>T, NM_001303515.1:c.1313C>T, NM_001303516.2:c.1295C>T, NM_001303516.1:c.1295C>T, NM_001303514.2:c.1211C>T, NM_001303514.1:c.1211C>T, NP_115901.2:p.Thr513Ile, NP_001290442.1:p.Thr417Ile, NP_001290441.1:p.Thr519Ile, NP_001290444.1:p.Thr438Ile, NP_001290445.1:p.Thr432Ile, NP_001290443.1:p.Thr404Ile

Select item 144878320314.

rs1448783203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153804439 (GRCh38)
X:153069894 (GRCh37)
Canonical SPDI:: NC_000023.11:153804438:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153804439G>A, NC_000023.10:g.153069894G>A, NW_003871103.3:g.1238422G>A, NM_032512.5:c.1224C>T, NM_032512.4:c.1224C>T, NM_032512.3:c.1224C>T, NM_032512.2:c.1224C>T, NM_001303513.3:c.936C>T, NM_001303513.2:c.936C>T, NM_001303513.1:c.936C>T, NM_001303512.2:c.1242C>T, NM_001303512.1:c.1242C>T, NM_001303515.2:c.999C>T, NM_001303515.1:c.999C>T, NM_001303516.2:c.981C>T, NM_001303516.1:c.981C>T, NM_001303514.2:c.897C>T, NM_001303514.1:c.897C>T

Select item 144738646515.

rs1447386465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153807324 (GRCh38)
X:153072779 (GRCh37)
Canonical SPDI:: NC_000023.11:153807323:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153807324C>T, NC_000023.10:g.153072779C>T, NW_003871103.3:g.1241307C>T, NM_032512.5:c.342G>A, NM_032512.4:c.342G>A, NM_032512.3:c.342G>A, NM_032512.2:c.342G>A, NM_001303513.3:c.54G>A, NM_001303513.2:c.54G>A, NM_001303513.1:c.54G>A, NM_001303512.2:c.360G>A, NM_001303512.1:c.360G>A, NM_001303515.2:c.117G>A, NM_001303515.1:c.117G>A, NM_001303516.2:c.99G>A, NM_001303516.1:c.99G>A

Select item 144068999816.

rs1440689998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153805155 (GRCh38)
X:153070610 (GRCh37)
Canonical SPDI:: NC_000023.11:153805154:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153805155C>T, NC_000023.10:g.153070610C>T, NW_003871103.3:g.1239138C>T, NM_032512.5:c.704G>A, NM_032512.4:c.704G>A, NM_032512.3:c.704G>A, NM_032512.2:c.704G>A, NM_001303513.3:c.416G>A, NM_001303513.2:c.416G>A, NM_001303513.1:c.416G>A, NM_001303512.2:c.722G>A, NM_001303512.1:c.722G>A, NM_001303515.2:c.479G>A, NM_001303515.1:c.479G>A, NM_001303516.2:c.461G>A, NM_001303516.1:c.461G>A, NM_001303514.2:c.377G>A, NM_001303514.1:c.377G>A, NP_115901.2:p.Gly235Asp, NP_001290442.1:p.Gly139Asp, NP_001290441.1:p.Gly241Asp, NP_001290444.1:p.Gly160Asp, NP_001290445.1:p.Gly154Asp, NP_001290443.1:p.Gly126Asp

Select item 143973280217.

rs1439732802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:153804604 (GRCh38)
X:153070059 (GRCh37)
Canonical SPDI:: NC_000023.11:153804603:C:A,NC_000023.11:153804603:C:G,NC_000023.11:153804603:C:T
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153804604C>A, NC_000023.11:g.153804604C>G, NC_000023.11:g.153804604C>T, NC_000023.10:g.153070059C>A, NC_000023.10:g.153070059C>G, NC_000023.10:g.153070059C>T, NW_003871103.3:g.1238587C>A, NW_003871103.3:g.1238587C>G, NW_003871103.3:g.1238587C>T, NM_032512.5:c.1059G>T, NM_032512.5:c.1059G>C, NM_032512.5:c.1059G>A, NM_032512.4:c.1059G>T, NM_032512.4:c.1059G>C, NM_032512.4:c.1059G>A, NM_032512.3:c.1059G>T, NM_032512.3:c.1059G>C, NM_032512.3:c.1059G>A, NM_032512.2:c.1059G>T, NM_032512.2:c.1059G>C, NM_032512.2:c.1059G>A, NM_001303513.3:c.771G>T, NM_001303513.3:c.771G>C, NM_001303513.3:c.771G>A, NM_001303513.2:c.771G>T, NM_001303513.2:c.771G>C, NM_001303513.2:c.771G>A, NM_001303513.1:c.771G>T, NM_001303513.1:c.771G>C, NM_001303513.1:c.771G>A, NM_001303512.2:c.1077G>T, NM_001303512.2:c.1077G>C, NM_001303512.2:c.1077G>A, NM_001303512.1:c.1077G>T, NM_001303512.1:c.1077G>C, NM_001303512.1:c.1077G>A, NM_001303515.2:c.834G>T, NM_001303515.2:c.834G>C, NM_001303515.2:c.834G>A, NM_001303515.1:c.834G>T, NM_001303515.1:c.834G>C, NM_001303515.1:c.834G>A, NM_001303516.2:c.816G>T, NM_001303516.2:c.816G>C, NM_001303516.2:c.816G>A, NM_001303516.1:c.816G>T, NM_001303516.1:c.816G>C, NM_001303516.1:c.816G>A, NM_001303514.2:c.732G>T, NM_001303514.2:c.732G>C, NM_001303514.2:c.732G>A, NM_001303514.1:c.732G>T, NM_001303514.1:c.732G>C, NM_001303514.1:c.732G>A, NP_115901.2:p.Glu353Asp, NP_115901.2:p.Glu353Asp, NP_001290442.1:p.Glu257Asp, NP_001290442.1:p.Glu257Asp, NP_001290441.1:p.Glu359Asp, NP_001290441.1:p.Glu359Asp, NP_001290444.1:p.Glu278Asp, NP_001290444.1:p.Glu278Asp, NP_001290445.1:p.Glu272Asp, NP_001290445.1:p.Glu272Asp, NP_001290443.1:p.Glu244Asp, NP_001290443.1:p.Glu244Asp

Select item 143895160218.

rs1438951602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153803929 (GRCh38)
X:153069384 (GRCh37)
Canonical SPDI:: NC_000023.11:153803928:G:A
Gene:: PDZD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153803929G>A, NC_000023.10:g.153069384G>A, NW_003871103.3:g.1237912G>A, NM_032512.5:c.1734C>T, NM_032512.4:c.1734C>T, NM_032512.3:c.1734C>T, NM_032512.2:c.1734C>T, NM_001303513.3:c.1446C>T, NM_001303513.2:c.1446C>T, NM_001303513.1:c.1446C>T, NM_001303512.2:c.1752C>T, NM_001303512.1:c.1752C>T, NM_001303515.2:c.1509C>T, NM_001303515.1:c.1509C>T, NM_001303516.2:c.1491C>T, NM_001303516.1:c.1491C>T, NM_001303514.2:c.1407C>T, NM_001303514.1:c.1407C>T

Select item 143449607819.

rs1434496078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153803773 (GRCh38)
X:153069228 (GRCh37)
Canonical SPDI:: NC_000023.11:153803772:G:A
Gene:: PDZD4 (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=0.000009/1 (GnomAD)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.153803773G>A, NC_000023.10:g.153069228G>A, NW_003871103.3:g.1237756G>A, NM_032512.5:c.1890C>T, NM_032512.4:c.1890C>T, NM_032512.3:c.1890C>T, NM_032512.2:c.1890C>T, NM_001303513.3:c.1602C>T, NM_001303513.2:c.1602C>T, NM_001303513.1:c.1602C>T, NM_001303512.2:c.1908C>T, NM_001303512.1:c.1908C>T, NM_001303515.2:c.1665C>T, NM_001303515.1:c.1665C>T, NM_001303516.2:c.1647C>T, NM_001303516.1:c.1647C>T, NM_001303514.2:c.1563C>T, NM_001303514.1:c.1563C>T

Select item 142609579120.

rs1426095791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153804297 (GRCh38)
X:153069752 (GRCh37)
Canonical SPDI:: NC_000023.11:153804296:T:C
Gene:: PDZD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153804297T>C, NC_000023.10:g.153069752T>C, NW_003871103.3:g.1238280T>C, NM_032512.5:c.1366A>G, NM_032512.4:c.1366A>G, NM_032512.3:c.1366A>G, NM_032512.2:c.1366A>G, NM_001303513.3:c.1078A>G, NM_001303513.2:c.1078A>G, NM_001303513.1:c.1078A>G, NM_001303512.2:c.1384A>G, NM_001303512.1:c.1384A>G, NM_001303515.2:c.1141A>G, NM_001303515.1:c.1141A>G, NM_001303516.2:c.1123A>G, NM_001303516.1:c.1123A>G, NM_001303514.2:c.1039A>G, NM_001303514.1:c.1039A>G, NP_115901.2:p.Ile456Val, NP_001290442.1:p.Ile360Val, NP_001290441.1:p.Ile462Val, NP_001290444.1:p.Ile381Val, NP_001290445.1:p.Ile375Val, NP_001290443.1:p.Ile347Val

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 460

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