SNP Links for Protein (Select 767961568) - SNP

Select item 14877322131.

rs1487732213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:117375020 (GRCh38)
10:119134531 (GRCh37)
Canonical SPDI:: NC_000010.11:117375019:A:G
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117375020A>G, NC_000010.10:g.119134531A>G, NM_173791.5:c.208T>C, NM_173791.4:c.208T>C, NM_173791.3:c.208T>C, XM_005269518.5:c.208T>C, XM_005269518.4:c.208T>C, XM_005269518.3:c.208T>C, XM_005269518.2:c.208T>C, XM_005269518.1:c.208T>C, XM_011539266.4:c.208T>C, XM_011539266.3:c.208T>C, XM_011539266.2:c.208T>C, XM_011539266.1:c.208T>C, XR_945602.3:n.421T>C, XR_945602.2:n.473T>C, XR_945602.1:n.421T>C, XM_011539265.3:c.208T>C, XM_011539265.2:c.208T>C, XM_011539265.1:c.208T>C, XM_047424576.1:c.208T>C, XR_007061943.1:n.421T>C, XM_047424575.1:c.208T>C, NP_776152.1:p.Ser70Pro, XP_005269575.1:p.Ser70Pro, XP_011537568.1:p.Ser70Pro, XP_011537567.1:p.Ser70Pro, XP_047280532.1:p.Ser70Pro, XP_047280531.1:p.Ser70Pro

Select item 14865869522.

rs1486586952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:117374942 (GRCh38)
10:119134453 (GRCh37)
Canonical SPDI:: NC_000010.11:117374941:A:G
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.117374942A>G, NC_000010.10:g.119134453A>G, NM_173791.5:c.286T>C, NM_173791.4:c.286T>C, NM_173791.3:c.286T>C, XM_005269518.5:c.286T>C, XM_005269518.4:c.286T>C, XM_005269518.3:c.286T>C, XM_005269518.2:c.286T>C, XM_005269518.1:c.286T>C, XM_011539266.4:c.286T>C, XM_011539266.3:c.286T>C, XM_011539266.2:c.286T>C, XM_011539266.1:c.286T>C, XR_945602.3:n.499T>C, XR_945602.2:n.551T>C, XR_945602.1:n.499T>C, XM_011539265.3:c.286T>C, XM_011539265.2:c.286T>C, XM_011539265.1:c.286T>C, XM_047424576.1:c.286T>C, XR_007061943.1:n.499T>C, XM_047424575.1:c.286T>C, NP_776152.1:p.Tyr96His, XP_005269575.1:p.Tyr96His, XP_011537568.1:p.Tyr96His, XP_011537567.1:p.Tyr96His, XP_047280532.1:p.Tyr96His, XP_047280531.1:p.Tyr96His

Select item 14842727443.

rs1484272744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:117374550 (GRCh38)
10:119134061 (GRCh37)
Canonical SPDI:: NC_000010.11:117374549:C:T
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.117374550C>T, NC_000010.10:g.119134061C>T, NM_173791.5:c.678G>A, NM_173791.4:c.678G>A, NM_173791.3:c.678G>A, XM_005269518.5:c.678G>A, XM_005269518.4:c.678G>A, XM_005269518.3:c.678G>A, XM_005269518.2:c.678G>A, XM_005269518.1:c.678G>A, XM_011539266.4:c.678G>A, XM_011539266.3:c.678G>A, XM_011539266.2:c.678G>A, XM_011539266.1:c.678G>A, XR_945602.3:n.891G>A, XR_945602.2:n.943G>A, XR_945602.1:n.891G>A, XM_011539265.3:c.678G>A, XM_011539265.2:c.678G>A, XM_011539265.1:c.678G>A, XM_047424576.1:c.678G>A, XR_007061943.1:n.891G>A, XM_047424575.1:c.678G>A

Select item 14769436284.

rs1476943628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:117374556 (GRCh38)
10:119134067 (GRCh37)
Canonical SPDI:: NC_000010.11:117374555:G:C
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.117374556G>C, NC_000010.10:g.119134067G>C, NM_173791.5:c.672C>G, NM_173791.4:c.672C>G, NM_173791.3:c.672C>G, XM_005269518.5:c.672C>G, XM_005269518.4:c.672C>G, XM_005269518.3:c.672C>G, XM_005269518.2:c.672C>G, XM_005269518.1:c.672C>G, XM_011539266.4:c.672C>G, XM_011539266.3:c.672C>G, XM_011539266.2:c.672C>G, XM_011539266.1:c.672C>G, XR_945602.3:n.885C>G, XR_945602.2:n.937C>G, XR_945602.1:n.885C>G, XM_011539265.3:c.672C>G, XM_011539265.2:c.672C>G, XM_011539265.1:c.672C>G, XM_047424576.1:c.672C>G, XR_007061943.1:n.885C>G, XM_047424575.1:c.672C>G

Select item 14767067745.

rs1476706774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:117374862 (GRCh38)
10:119134373 (GRCh37)
Canonical SPDI:: NC_000010.11:117374861:C:G
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374862C>G, NC_000010.10:g.119134373C>G, NM_173791.5:c.366G>C, NM_173791.4:c.366G>C, NM_173791.3:c.366G>C, XM_005269518.5:c.366G>C, XM_005269518.4:c.366G>C, XM_005269518.3:c.366G>C, XM_005269518.2:c.366G>C, XM_005269518.1:c.366G>C, XM_011539266.4:c.366G>C, XM_011539266.3:c.366G>C, XM_011539266.2:c.366G>C, XM_011539266.1:c.366G>C, XR_945602.3:n.579G>C, XR_945602.2:n.631G>C, XR_945602.1:n.579G>C, XM_011539265.3:c.366G>C, XM_011539265.2:c.366G>C, XM_011539265.1:c.366G>C, XM_047424576.1:c.366G>C, XR_007061943.1:n.579G>C, XM_047424575.1:c.366G>C, NP_776152.1:p.Lys122Asn, XP_005269575.1:p.Lys122Asn, XP_011537568.1:p.Lys122Asn, XP_011537567.1:p.Lys122Asn, XP_047280532.1:p.Lys122Asn, XP_047280531.1:p.Lys122Asn

Select item 14756021216.

rs1475602121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117374613 (GRCh38)
10:119134124 (GRCh37)
Canonical SPDI:: NC_000010.11:117374612:G:A
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374613G>A, NC_000010.10:g.119134124G>A, NM_173791.5:c.615C>T, NM_173791.4:c.615C>T, NM_173791.3:c.615C>T, XM_005269518.5:c.615C>T, XM_005269518.4:c.615C>T, XM_005269518.3:c.615C>T, XM_005269518.2:c.615C>T, XM_005269518.1:c.615C>T, XM_011539266.4:c.615C>T, XM_011539266.3:c.615C>T, XM_011539266.2:c.615C>T, XM_011539266.1:c.615C>T, XR_945602.3:n.828C>T, XR_945602.2:n.880C>T, XR_945602.1:n.828C>T, XM_011539265.3:c.615C>T, XM_011539265.2:c.615C>T, XM_011539265.1:c.615C>T, XM_047424576.1:c.615C>T, XR_007061943.1:n.828C>T, XM_047424575.1:c.615C>T

Select item 14721802817.

rs1472180281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:117374808 (GRCh38)
10:119134319 (GRCh37)
Canonical SPDI:: NC_000010.11:117374807:C:G
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117374808C>G, NC_000010.10:g.119134319C>G, NM_173791.5:c.420G>C, NM_173791.4:c.420G>C, NM_173791.3:c.420G>C, XM_005269518.5:c.420G>C, XM_005269518.4:c.420G>C, XM_005269518.3:c.420G>C, XM_005269518.2:c.420G>C, XM_005269518.1:c.420G>C, XM_011539266.4:c.420G>C, XM_011539266.3:c.420G>C, XM_011539266.2:c.420G>C, XM_011539266.1:c.420G>C, XR_945602.3:n.633G>C, XR_945602.2:n.685G>C, XR_945602.1:n.633G>C, XM_011539265.3:c.420G>C, XM_011539265.2:c.420G>C, XM_011539265.1:c.420G>C, XM_047424576.1:c.420G>C, XR_007061943.1:n.633G>C, XM_047424575.1:c.420G>C

Select item 14697756718.

rs1469775671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:117374687 (GRCh38)
10:119134198 (GRCh37)
Canonical SPDI:: NC_000010.11:117374686:C:A,NC_000010.11:117374686:C:T
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374687C>A, NC_000010.11:g.117374687C>T, NC_000010.10:g.119134198C>A, NC_000010.10:g.119134198C>T, NM_173791.5:c.541G>T, NM_173791.5:c.541G>A, NM_173791.4:c.541G>T, NM_173791.4:c.541G>A, NM_173791.3:c.541G>T, NM_173791.3:c.541G>A, XM_005269518.5:c.541G>T, XM_005269518.5:c.541G>A, XM_005269518.4:c.541G>T, XM_005269518.4:c.541G>A, XM_005269518.3:c.541G>T, XM_005269518.3:c.541G>A, XM_005269518.2:c.541G>T, XM_005269518.2:c.541G>A, XM_005269518.1:c.541G>T, XM_005269518.1:c.541G>A, XM_011539266.4:c.541G>T, XM_011539266.4:c.541G>A, XM_011539266.3:c.541G>T, XM_011539266.3:c.541G>A, XM_011539266.2:c.541G>T, XM_011539266.2:c.541G>A, XM_011539266.1:c.541G>T, XM_011539266.1:c.541G>A, XR_945602.3:n.754G>T, XR_945602.3:n.754G>A, XR_945602.2:n.806G>T, XR_945602.2:n.806G>A, XR_945602.1:n.754G>T, XR_945602.1:n.754G>A, XM_011539265.3:c.541G>T, XM_011539265.3:c.541G>A, XM_011539265.2:c.541G>T, XM_011539265.2:c.541G>A, XM_011539265.1:c.541G>T, XM_011539265.1:c.541G>A, XM_047424576.1:c.541G>T, XM_047424576.1:c.541G>A, XR_007061943.1:n.754G>T, XR_007061943.1:n.754G>A, XM_047424575.1:c.541G>T, XM_047424575.1:c.541G>A, NP_776152.1:p.Ala181Ser, NP_776152.1:p.Ala181Thr, XP_005269575.1:p.Ala181Ser, XP_005269575.1:p.Ala181Thr, XP_011537568.1:p.Ala181Ser, XP_011537568.1:p.Ala181Thr, XP_011537567.1:p.Ala181Ser, XP_011537567.1:p.Ala181Thr, XP_047280532.1:p.Ala181Ser, XP_047280532.1:p.Ala181Thr, XP_047280531.1:p.Ala181Ser, XP_047280531.1:p.Ala181Thr

Select item 14648917079.

rs1464891707 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 10:117374497 (GRCh38)
10:119134008 (GRCh37)
Canonical SPDI:: NC_000010.11:117374494:AGGAG:AG
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374497_117374499del, NC_000010.10:g.119134008_119134010del, NM_173791.5:c.731_733del, NM_173791.4:c.731_733del, NM_173791.3:c.731_733del, XM_005269518.5:c.731_733del, XM_005269518.4:c.731_733del, XM_005269518.3:c.731_733del, XM_005269518.2:c.731_733del, XM_005269518.1:c.731_733del, XM_011539266.4:c.731_733del, XM_011539266.3:c.731_733del, XM_011539266.2:c.731_733del, XM_011539266.1:c.731_733del, XR_945602.3:n.944_946del, XR_945602.2:n.996_998del, XR_945602.1:n.944_946del, XM_011539265.3:c.731_733del, XM_011539265.2:c.731_733del, XM_011539265.1:c.731_733del, XM_047424576.1:c.731_733del, XR_007061943.1:n.944_946del, XM_047424575.1:c.731_733del, NP_776152.1:p.Ser244del, XP_005269575.1:p.Ser244del, XP_011537568.1:p.Ser244del, XP_011537567.1:p.Ser244del, XP_047280532.1:p.Ser244del, XP_047280531.1:p.Ser244del

Select item 146207507810.

rs1462075078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:117375086 (GRCh38)
10:119134597 (GRCh37)
Canonical SPDI:: NC_000010.11:117375085:T:A,NC_000010.11:117375085:T:C,NC_000010.11:117375085:T:G
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00011/2 (TOMMO)
HGVS:: NC_000010.11:g.117375086T>A, NC_000010.11:g.117375086T>C, NC_000010.11:g.117375086T>G, NC_000010.10:g.119134597T>A, NC_000010.10:g.119134597T>C, NC_000010.10:g.119134597T>G, NM_173791.5:c.142A>T, NM_173791.5:c.142A>G, NM_173791.5:c.142A>C, NM_173791.4:c.142A>T, NM_173791.4:c.142A>G, NM_173791.4:c.142A>C, NM_173791.3:c.142A>T, NM_173791.3:c.142A>G, NM_173791.3:c.142A>C, XM_005269518.5:c.142A>T, XM_005269518.5:c.142A>G, XM_005269518.5:c.142A>C, XM_005269518.4:c.142A>T, XM_005269518.4:c.142A>G, XM_005269518.4:c.142A>C, XM_005269518.3:c.142A>T, XM_005269518.3:c.142A>G, XM_005269518.3:c.142A>C, XM_005269518.2:c.142A>T, XM_005269518.2:c.142A>G, XM_005269518.2:c.142A>C, XM_005269518.1:c.142A>T, XM_005269518.1:c.142A>G, XM_005269518.1:c.142A>C, XM_011539266.4:c.142A>T, XM_011539266.4:c.142A>G, XM_011539266.4:c.142A>C, XM_011539266.3:c.142A>T, XM_011539266.3:c.142A>G, XM_011539266.3:c.142A>C, XM_011539266.2:c.142A>T, XM_011539266.2:c.142A>G, XM_011539266.2:c.142A>C, XM_011539266.1:c.142A>T, XM_011539266.1:c.142A>G, XM_011539266.1:c.142A>C, XR_945602.3:n.355A>T, XR_945602.3:n.355A>G, XR_945602.3:n.355A>C, XR_945602.2:n.407A>T, XR_945602.2:n.407A>G, XR_945602.2:n.407A>C, XR_945602.1:n.355A>T, XR_945602.1:n.355A>G, XR_945602.1:n.355A>C, XM_011539265.3:c.142A>T, XM_011539265.3:c.142A>G, XM_011539265.3:c.142A>C, XM_011539265.2:c.142A>T, XM_011539265.2:c.142A>G, XM_011539265.2:c.142A>C, XM_011539265.1:c.142A>T, XM_011539265.1:c.142A>G, XM_011539265.1:c.142A>C, XM_047424576.1:c.142A>T, XM_047424576.1:c.142A>G, XM_047424576.1:c.142A>C, XR_007061943.1:n.355A>T, XR_007061943.1:n.355A>G, XR_007061943.1:n.355A>C, XM_047424575.1:c.142A>T, XM_047424575.1:c.142A>G, XM_047424575.1:c.142A>C, NP_776152.1:p.Ile48Phe, NP_776152.1:p.Ile48Val, NP_776152.1:p.Ile48Leu, XP_005269575.1:p.Ile48Phe, XP_005269575.1:p.Ile48Val, XP_005269575.1:p.Ile48Leu, XP_011537568.1:p.Ile48Phe, XP_011537568.1:p.Ile48Val, XP_011537568.1:p.Ile48Leu, XP_011537567.1:p.Ile48Phe, XP_011537567.1:p.Ile48Val, XP_011537567.1:p.Ile48Leu, XP_047280532.1:p.Ile48Phe, XP_047280532.1:p.Ile48Val, XP_047280532.1:p.Ile48Leu, XP_047280531.1:p.Ile48Phe, XP_047280531.1:p.Ile48Val, XP_047280531.1:p.Ile48Leu

Select item 146135996611.

rs1461359966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:117375035 (GRCh38)
10:119134546 (GRCh37)
Canonical SPDI:: NC_000010.11:117375034:G:C,NC_000010.11:117375034:G:T
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117375035G>C, NC_000010.11:g.117375035G>T, NC_000010.10:g.119134546G>C, NC_000010.10:g.119134546G>T, NM_173791.5:c.193C>G, NM_173791.5:c.193C>A, NM_173791.4:c.193C>G, NM_173791.4:c.193C>A, NM_173791.3:c.193C>G, NM_173791.3:c.193C>A, XM_005269518.5:c.193C>G, XM_005269518.5:c.193C>A, XM_005269518.4:c.193C>G, XM_005269518.4:c.193C>A, XM_005269518.3:c.193C>G, XM_005269518.3:c.193C>A, XM_005269518.2:c.193C>G, XM_005269518.2:c.193C>A, XM_005269518.1:c.193C>G, XM_005269518.1:c.193C>A, XM_011539266.4:c.193C>G, XM_011539266.4:c.193C>A, XM_011539266.3:c.193C>G, XM_011539266.3:c.193C>A, XM_011539266.2:c.193C>G, XM_011539266.2:c.193C>A, XM_011539266.1:c.193C>G, XM_011539266.1:c.193C>A, XR_945602.3:n.406C>G, XR_945602.3:n.406C>A, XR_945602.2:n.458C>G, XR_945602.2:n.458C>A, XR_945602.1:n.406C>G, XR_945602.1:n.406C>A, XM_011539265.3:c.193C>G, XM_011539265.3:c.193C>A, XM_011539265.2:c.193C>G, XM_011539265.2:c.193C>A, XM_011539265.1:c.193C>G, XM_011539265.1:c.193C>A, XM_047424576.1:c.193C>G, XM_047424576.1:c.193C>A, XR_007061943.1:n.406C>G, XR_007061943.1:n.406C>A, XM_047424575.1:c.193C>G, XM_047424575.1:c.193C>A, NP_776152.1:p.Arg65Gly, XP_005269575.1:p.Arg65Gly, XP_011537568.1:p.Arg65Gly, XP_011537567.1:p.Arg65Gly, XP_047280532.1:p.Arg65Gly, XP_047280531.1:p.Arg65Gly

Select item 145930852112.

rs1459308521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:117375211 (GRCh38)
10:119134722 (GRCh37)
Canonical SPDI:: NC_000010.11:117375210:A:T
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.117375211A>T, NC_000010.10:g.119134722A>T, NM_173791.5:c.17T>A, NM_173791.4:c.17T>A, NM_173791.3:c.17T>A, XM_005269518.5:c.17T>A, XM_005269518.4:c.17T>A, XM_005269518.3:c.17T>A, XM_005269518.2:c.17T>A, XM_005269518.1:c.17T>A, XM_011539266.4:c.17T>A, XM_011539266.3:c.17T>A, XM_011539266.2:c.17T>A, XM_011539266.1:c.17T>A, XR_945602.3:n.230T>A, XR_945602.2:n.282T>A, XR_945602.1:n.230T>A, XM_011539265.3:c.17T>A, XM_011539265.2:c.17T>A, XM_011539265.1:c.17T>A, XM_047424576.1:c.17T>A, XR_007061943.1:n.230T>A, XM_047424575.1:c.17T>A, NP_776152.1:p.Met6Lys, XP_005269575.1:p.Met6Lys, XP_011537568.1:p.Met6Lys, XP_011537567.1:p.Met6Lys, XP_047280532.1:p.Met6Lys, XP_047280531.1:p.Met6Lys

Select item 145716406413.

rs1457164064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117375184 (GRCh38)
10:119134695 (GRCh37)
Canonical SPDI:: NC_000010.11:117375183:G:A
Gene:: PDZD8 (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=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117375184G>A, NC_000010.10:g.119134695G>A, NM_173791.5:c.44C>T, NM_173791.4:c.44C>T, NM_173791.3:c.44C>T, XM_005269518.5:c.44C>T, XM_005269518.4:c.44C>T, XM_005269518.3:c.44C>T, XM_005269518.2:c.44C>T, XM_005269518.1:c.44C>T, XM_011539266.4:c.44C>T, XM_011539266.3:c.44C>T, XM_011539266.2:c.44C>T, XM_011539266.1:c.44C>T, XR_945602.3:n.257C>T, XR_945602.2:n.309C>T, XR_945602.1:n.257C>T, XM_011539265.3:c.44C>T, XM_011539265.2:c.44C>T, XM_011539265.1:c.44C>T, XM_047424576.1:c.44C>T, XR_007061943.1:n.257C>T, XM_047424575.1:c.44C>T, NP_776152.1:p.Ser15Phe, XP_005269575.1:p.Ser15Phe, XP_011537568.1:p.Ser15Phe, XP_011537567.1:p.Ser15Phe, XP_047280532.1:p.Ser15Phe, XP_047280531.1:p.Ser15Phe

Select item 145640098614.

rs1456400986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:117318958 (GRCh38)
10:119078469 (GRCh37)
Canonical SPDI:: NC_000010.11:117318957:A:T
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117318958A>T, NC_000010.10:g.119078469A>T, NM_173791.5:c.1012T>A, NM_173791.4:c.1012T>A, NM_173791.3:c.1012T>A, XM_005269518.5:c.889T>A, XM_005269518.4:c.889T>A, XM_005269518.3:c.889T>A, XM_005269518.2:c.889T>A, XM_005269518.1:c.889T>A, XM_011539266.4:c.1012T>A, XM_011539266.3:c.1012T>A, XM_011539266.2:c.1012T>A, XM_011539266.1:c.1012T>A, XR_945602.3:n.1225T>A, XR_945602.2:n.1277T>A, XR_945602.1:n.1225T>A, XM_011539265.3:c.1012T>A, XM_011539265.2:c.1012T>A, XM_011539265.1:c.1012T>A, XM_047424576.1:c.1012T>A, XR_007061943.1:n.1225T>A, XM_047424575.1:c.1012T>A, NP_776152.1:p.Ser338Thr, XP_005269575.1:p.Ser297Thr, XP_011537568.1:p.Ser338Thr, XP_011537567.1:p.Ser338Thr, XP_047280532.1:p.Ser338Thr, XP_047280531.1:p.Ser338Thr

Select item 145550207415.

rs1455502074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117374619 (GRCh38)
10:119134130 (GRCh37)
Canonical SPDI:: NC_000010.11:117374618:G:A
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374619G>A, NC_000010.10:g.119134130G>A, NM_173791.5:c.609C>T, NM_173791.4:c.609C>T, NM_173791.3:c.609C>T, XM_005269518.5:c.609C>T, XM_005269518.4:c.609C>T, XM_005269518.3:c.609C>T, XM_005269518.2:c.609C>T, XM_005269518.1:c.609C>T, XM_011539266.4:c.609C>T, XM_011539266.3:c.609C>T, XM_011539266.2:c.609C>T, XM_011539266.1:c.609C>T, XR_945602.3:n.822C>T, XR_945602.2:n.874C>T, XR_945602.1:n.822C>T, XM_011539265.3:c.609C>T, XM_011539265.2:c.609C>T, XM_011539265.1:c.609C>T, XM_047424576.1:c.609C>T, XR_007061943.1:n.822C>T, XM_047424575.1:c.609C>T

Select item 144617417316.

rs1446174173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:117374791 (GRCh38)
10:119134302 (GRCh37)
Canonical SPDI:: NC_000010.11:117374790:C:T
Gene:: PDZD8 (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=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.117374791C>T, NC_000010.10:g.119134302C>T, NM_173791.5:c.437G>A, NM_173791.4:c.437G>A, NM_173791.3:c.437G>A, XM_005269518.5:c.437G>A, XM_005269518.4:c.437G>A, XM_005269518.3:c.437G>A, XM_005269518.2:c.437G>A, XM_005269518.1:c.437G>A, XM_011539266.4:c.437G>A, XM_011539266.3:c.437G>A, XM_011539266.2:c.437G>A, XM_011539266.1:c.437G>A, XR_945602.3:n.650G>A, XR_945602.2:n.702G>A, XR_945602.1:n.650G>A, XM_011539265.3:c.437G>A, XM_011539265.2:c.437G>A, XM_011539265.1:c.437G>A, XM_047424576.1:c.437G>A, XR_007061943.1:n.650G>A, XM_047424575.1:c.437G>A, NP_776152.1:p.Arg146Gln, XP_005269575.1:p.Arg146Gln, XP_011537568.1:p.Arg146Gln, XP_011537567.1:p.Arg146Gln, XP_047280532.1:p.Arg146Gln, XP_047280531.1:p.Arg146Gln

Select item 144598682017.

rs1445986820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:117314272 (GRCh38)
10:119073783 (GRCh37)
Canonical SPDI:: NC_000010.11:117314271:G:A
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.117314272G>A, NC_000010.10:g.119073783G>A, XM_011539266.4:c.1140C>T, XM_011539266.3:c.1140C>T, XM_011539266.2:c.1140C>T, XM_011539266.1:c.1140C>T, XM_011539265.3:c.1140C>T, XM_011539265.2:c.1140C>T, XM_011539265.1:c.1140C>T, XM_047424576.1:c.1140C>T

Select item 144542891418.

rs1445428914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:117374998 (GRCh38)
10:119134509 (GRCh37)
Canonical SPDI:: NC_000010.11:117374997:C:A
Gene:: PDZD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.117374998C>A, NC_000010.10:g.119134509C>A, NM_173791.5:c.230G>T, NM_173791.4:c.230G>T, NM_173791.3:c.230G>T, XM_005269518.5:c.230G>T, XM_005269518.4:c.230G>T, XM_005269518.3:c.230G>T, XM_005269518.2:c.230G>T, XM_005269518.1:c.230G>T, XM_011539266.4:c.230G>T, XM_011539266.3:c.230G>T, XM_011539266.2:c.230G>T, XM_011539266.1:c.230G>T, XR_945602.3:n.443G>T, XR_945602.2:n.495G>T, XR_945602.1:n.443G>T, XM_011539265.3:c.230G>T, XM_011539265.2:c.230G>T, XM_011539265.1:c.230G>T, XM_047424576.1:c.230G>T, XR_007061943.1:n.443G>T, XM_047424575.1:c.230G>T, NP_776152.1:p.Gly77Val, XP_005269575.1:p.Gly77Val, XP_011537568.1:p.Gly77Val, XP_011537567.1:p.Gly77Val, XP_047280532.1:p.Gly77Val, XP_047280531.1:p.Gly77Val

Select item 144276070019.

rs1442760700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:117374502 (GRCh38)
10:119134013 (GRCh37)
Canonical SPDI:: NC_000010.11:117374501:G:T
Gene:: PDZD8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00013/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.117374502G>T, NC_000010.10:g.119134013G>T, NM_173791.5:c.726C>A, NM_173791.4:c.726C>A, NM_173791.3:c.726C>A, XM_005269518.5:c.726C>A, XM_005269518.4:c.726C>A, XM_005269518.3:c.726C>A, XM_005269518.2:c.726C>A, XM_005269518.1:c.726C>A, XM_011539266.4:c.726C>A, XM_011539266.3:c.726C>A, XM_011539266.2:c.726C>A, XM_011539266.1:c.726C>A, XR_945602.3:n.939C>A, XR_945602.2:n.991C>A, XR_945602.1:n.939C>A, XM_011539265.3:c.726C>A, XM_011539265.2:c.726C>A, XM_011539265.1:c.726C>A, XM_047424576.1:c.726C>A, XR_007061943.1:n.939C>A, XM_047424575.1:c.726C>A, NP_776152.1:p.Phe242Leu, XP_005269575.1:p.Phe242Leu, XP_011537568.1:p.Phe242Leu, XP_011537567.1:p.Phe242Leu, XP_047280532.1:p.Phe242Leu, XP_047280531.1:p.Phe242Leu

Select item 144237347420.

rs1442373474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:117374706 (GRCh38)
10:119134217 (GRCh37)
Canonical SPDI:: NC_000010.11:117374705:G:C
Gene:: PDZD8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000010.11:g.117374706G>C, NC_000010.10:g.119134217G>C, NM_173791.5:c.522C>G, NM_173791.4:c.522C>G, NM_173791.3:c.522C>G, XM_005269518.5:c.522C>G, XM_005269518.4:c.522C>G, XM_005269518.3:c.522C>G, XM_005269518.2:c.522C>G, XM_005269518.1:c.522C>G, XM_011539266.4:c.522C>G, XM_011539266.3:c.522C>G, XM_011539266.2:c.522C>G, XM_011539266.1:c.522C>G, XR_945602.3:n.735C>G, XR_945602.2:n.787C>G, XR_945602.1:n.735C>G, XM_011539265.3:c.522C>G, XM_011539265.2:c.522C>G, XM_011539265.1:c.522C>G, XM_047424576.1:c.522C>G, XR_007061943.1:n.735C>G, XM_047424575.1:c.522C>G

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 418

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