SNP Links for Protein (Select 1066570872) - SNP

Links from Protein

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Select item 14887715221.

rs1488771522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:99499940 (GRCh38)
7:99097563 (GRCh37)
Canonical SPDI:: NC_000007.14:99499939:T:C,NC_000007.14:99499939:T:G
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99499940T>C, NC_000007.14:g.99499940T>G, NC_000007.13:g.99097563T>C, NC_000007.13:g.99097563T>G, NM_032164.4:c.154A>G, NM_032164.4:c.154A>C, NM_032164.3:c.154A>G, NM_032164.3:c.154A>C, NM_032164.2:c.154A>G, NM_032164.2:c.154A>C, NM_001345967.2:c.154A>G, NM_001345967.2:c.154A>C, NM_001345967.1:c.154A>G, NM_001345967.1:c.154A>C, NM_001345968.2:c.154A>G, NM_001345968.2:c.154A>C, NM_001345968.1:c.154A>G, NM_001345968.1:c.154A>C, NP_115540.2:p.Asn52Asp, NP_115540.2:p.Asn52His, NP_001332896.1:p.Asn52Asp, NP_001332896.1:p.Asn52His, NP_001332897.1:p.Asn52Asp, NP_001332897.1:p.Asn52His

Select item 14878605652.

rs1487860565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:99499666 (GRCh38)
7:99097289 (GRCh37)
Canonical SPDI:: NC_000007.14:99499665:T:G
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99499666T>G, NC_000007.13:g.99097289T>G, NM_032164.4:c.428A>C, NM_032164.3:c.428A>C, NM_032164.2:c.428A>C, NM_001345967.2:c.428A>C, NM_001345967.1:c.428A>C, NM_001345968.2:c.428A>C, NM_001345968.1:c.428A>C, NP_115540.2:p.Gln143Pro, NP_001332896.1:p.Gln143Pro, NP_001332897.1:p.Gln143Pro

Select item 14846386783.

rs1484638678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99499725 (GRCh38)
7:99097348 (GRCh37)
Canonical SPDI:: NC_000007.14:99499724:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99499725C>T, NC_000007.13:g.99097348C>T, NM_032164.4:c.369G>A, NM_032164.3:c.369G>A, NM_032164.2:c.369G>A, NM_001345967.2:c.369G>A, NM_001345967.1:c.369G>A, NM_001345968.2:c.369G>A, NM_001345968.1:c.369G>A, NP_115540.2:p.Trp123Ter, NP_001332896.1:p.Trp123Ter, NP_001332897.1:p.Trp123Ter

Select item 14831623204.

rs1483162320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99499809 (GRCh38)
7:99097432 (GRCh37)
Canonical SPDI:: NC_000007.14:99499808:G:A,NC_000007.14:99499808:G:C
Gene:: ZNF394 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.99499809G>A, NC_000007.14:g.99499809G>C, NC_000007.13:g.99097432G>A, NC_000007.13:g.99097432G>C, NM_032164.4:c.285C>T, NM_032164.4:c.285C>G, NM_032164.3:c.285C>T, NM_032164.3:c.285C>G, NM_032164.2:c.285C>T, NM_032164.2:c.285C>G, NM_001345967.2:c.285C>T, NM_001345967.2:c.285C>G, NM_001345967.1:c.285C>T, NM_001345967.1:c.285C>G, NM_001345968.2:c.285C>T, NM_001345968.2:c.285C>G, NM_001345968.1:c.285C>T, NM_001345968.1:c.285C>G

Select item 14803168495.

rs1480316849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:99498801 (GRCh38)
7:99096424 (GRCh37)
Canonical SPDI:: NC_000007.14:99498800:C:A
Gene:: ZNF394 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.99498801C>A, NC_000007.13:g.99096424C>A, NM_032164.4:c.498G>T, NM_032164.3:c.498G>T, NM_032164.2:c.498G>T, NM_001345968.2:c.498G>T, NM_001345968.1:c.498G>T, NP_115540.2:p.Trp166Cys, NP_001332897.1:p.Trp166Cys

Select item 14800358036.

rs1480035803 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAGC>- [Show Flanks]
Chromosome:: 7:99499775 (GRCh38)
7:99097398 (GRCh37)
Canonical SPDI:: NC_000007.14:99499774:GCAGC:
Gene:: ZNF394 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.99499775_99499779del, NC_000007.13:g.99097398_99097402del, NM_032164.4:c.315_319del, NM_032164.3:c.315_319del, NM_032164.2:c.315_319del, NM_001345967.2:c.315_319del, NM_001345967.1:c.315_319del, NM_001345968.2:c.315_319del, NM_001345968.1:c.315_319del, NP_115540.2:p.Glu105fs, NP_001332896.1:p.Glu105fs, NP_001332897.1:p.Glu105fs

Select item 14759393247.

rs1475939324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99499950 (GRCh38)
7:99097573 (GRCh37)
Canonical SPDI:: NC_000007.14:99499949:A:G
Gene:: ZNF394 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.99499950A>G, NC_000007.13:g.99097573A>G, NM_032164.4:c.144T>C, NM_032164.3:c.144T>C, NM_032164.2:c.144T>C, NM_001345967.2:c.144T>C, NM_001345967.1:c.144T>C, NM_001345968.2:c.144T>C, NM_001345968.1:c.144T>C

Select item 14735758058.

rs1473575805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99498767 (GRCh38)
7:99096390 (GRCh37)
Canonical SPDI:: NC_000007.14:99498766:C:G,NC_000007.14:99498766:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99498767C>G, NC_000007.14:g.99498767C>T, NC_000007.13:g.99096390C>G, NC_000007.13:g.99096390C>T, NM_032164.4:c.532G>C, NM_032164.4:c.532G>A, NM_032164.3:c.532G>C, NM_032164.3:c.532G>A, NM_032164.2:c.532G>C, NM_032164.2:c.532G>A, NM_001345968.2:c.532G>C, NM_001345968.2:c.532G>A, NM_001345968.1:c.532G>C, NM_001345968.1:c.532G>A, NP_115540.2:p.Asp178His, NP_115540.2:p.Asp178Asn, NP_001332897.1:p.Asp178His, NP_001332897.1:p.Asp178Asn

Select item 14726213839.

rs1472621383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99498842 (GRCh38)
7:99096465 (GRCh37)
Canonical SPDI:: NC_000007.14:99498841:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99498842C>T, NC_000007.13:g.99096465C>T, NM_032164.4:c.457G>A, NM_032164.3:c.457G>A, NM_032164.2:c.457G>A, NM_001345968.2:c.457G>A, NM_001345968.1:c.457G>A, NP_115540.2:p.Gly153Arg, NP_001332897.1:p.Gly153Arg

Select item 146882897410.

rs1468828974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99499858 (GRCh38)
7:99097481 (GRCh37)
Canonical SPDI:: NC_000007.14:99499857:T:C
Gene:: ZNF394 (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)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.99499858T>C, NC_000007.13:g.99097481T>C, NM_032164.4:c.236A>G, NM_032164.3:c.236A>G, NM_032164.2:c.236A>G, NM_001345967.2:c.236A>G, NM_001345967.1:c.236A>G, NM_001345968.2:c.236A>G, NM_001345968.1:c.236A>G, NP_115540.2:p.Glu79Gly, NP_001332896.1:p.Glu79Gly, NP_001332897.1:p.Glu79Gly

Select item 146624843211.

rs1466248432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99499753 (GRCh38)
7:99097376 (GRCh37)
Canonical SPDI:: NC_000007.14:99499752:G:T
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99499753G>T, NC_000007.13:g.99097376G>T, NM_032164.4:c.341C>A, NM_032164.3:c.341C>A, NM_032164.2:c.341C>A, NM_001345967.2:c.341C>A, NM_001345967.1:c.341C>A, NM_001345968.2:c.341C>A, NM_001345968.1:c.341C>A, NP_115540.2:p.Thr114Asn, NP_001332896.1:p.Thr114Asn, NP_001332897.1:p.Thr114Asn

Select item 146617020812.

rs1466170208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99498775 (GRCh38)
7:99096398 (GRCh37)
Canonical SPDI:: NC_000007.14:99498774:G:A
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99498775G>A, NC_000007.13:g.99096398G>A, NM_032164.4:c.524C>T, NM_032164.3:c.524C>T, NM_032164.2:c.524C>T, NM_001345968.2:c.524C>T, NM_001345968.1:c.524C>T, NP_115540.2:p.Ala175Val, NP_001332897.1:p.Ala175Val

Select item 146375895813.

rs1463758958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:99486942 (GRCh38)
7:99084566 (GRCh37)
Canonical SPDI:: NC_000007.14:99486942:A:AA
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_lost,coding_sequence_variant,terminator_codon_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99486943dup, NC_000007.13:g.99084566dup, NM_213603.3:c.733dup, NM_213603.2:c.733dup, XM_024446725.2:c.448dup, XM_024446725.1:c.448dup, XM_017012022.2:c.682dup, XM_017012022.1:c.682dup, NM_001351004.2:c.448dup, NM_001351004.1:c.448dup, NM_001351002.2:c.448dup, NM_001351002.1:c.448dup, NM_001350999.2:c.682dup, NM_001350999.1:c.682dup, NM_001351000.2:c.619dup, NM_001351000.1:c.619dup, XM_017012018.2:c.733dup, XM_017012018.1:c.733dup, NM_001345968.2:c.604dup, NM_001345968.1:c.604dup, XM_047420230.1:c.448dup, XM_047420229.1:c.682dup, XM_047420226.1:c.712dup, XM_047420227.1:c.712dup, XM_047420228.1:c.712dup, NP_998768.2:p.Thr245fs, XP_024302493.1:p.Thr150fs, XP_016867511.1:p.Thr228fs, NP_001337933.1:p.Thr150fs, NP_001337931.1:p.Thr150fs, NP_001337928.1:p.Thr228fs, NP_001337929.1:p.Thr207fs, XP_016867507.1:p.Thr245fs, NP_001332897.1:p.Ter202LeuextTer?, XP_047276186.1:p.Thr150fs, XP_047276185.1:p.Thr228fs, XP_047276182.1:p.Thr238fs, XP_047276183.1:p.Thr238fs, XP_047276184.1:p.Thr238fs

Select item 146289054714.

rs1462890547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99486947 (GRCh38)
7:99084570 (GRCh37)
Canonical SPDI:: NC_000007.14:99486946:T:C
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99486947T>C, NC_000007.13:g.99084570T>C, NM_213603.3:c.737T>C, NM_213603.2:c.737T>C, XM_024446725.2:c.452T>C, XM_024446725.1:c.452T>C, XM_017012022.2:c.686T>C, XM_017012022.1:c.686T>C, NM_001351004.2:c.452T>C, NM_001351004.1:c.452T>C, NM_001351002.2:c.452T>C, NM_001351002.1:c.452T>C, NM_001350999.2:c.686T>C, NM_001350999.1:c.686T>C, NM_001351000.2:c.623T>C, NM_001351000.1:c.623T>C, XM_017012018.2:c.737T>C, XM_017012018.1:c.737T>C, NM_001345968.2:c.600A>G, NM_001345968.1:c.600A>G, XM_047420230.1:c.452T>C, XM_047420229.1:c.686T>C, XM_047420226.1:c.716T>C, XM_047420227.1:c.716T>C, XM_047420228.1:c.716T>C, NP_998768.2:p.Val246Ala, XP_024302493.1:p.Val151Ala, XP_016867511.1:p.Val229Ala, NP_001337933.1:p.Val151Ala, NP_001337931.1:p.Val151Ala, NP_001337928.1:p.Val229Ala, NP_001337929.1:p.Val208Ala, XP_016867507.1:p.Val246Ala, XP_047276186.1:p.Val151Ala, XP_047276185.1:p.Val229Ala, XP_047276182.1:p.Val239Ala, XP_047276183.1:p.Val239Ala, XP_047276184.1:p.Val239Ala

Select item 145719347415.

rs1457193474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99500062 (GRCh38)
7:99097685 (GRCh37)
Canonical SPDI:: NC_000007.14:99500061:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99500062C>T, NC_000007.13:g.99097685C>T, NM_032164.4:c.32G>A, NM_032164.3:c.32G>A, NM_032164.2:c.32G>A, NM_001345967.2:c.32G>A, NM_001345967.1:c.32G>A, NM_001345968.2:c.32G>A, NM_001345968.1:c.32G>A, NP_115540.2:p.Gly11Asp, NP_001332896.1:p.Gly11Asp, NP_001332897.1:p.Gly11Asp

Select item 145574631416.

rs1455746314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99499757 (GRCh38)
7:99097380 (GRCh37)
Canonical SPDI:: NC_000007.14:99499756:G:A
Gene:: ZNF394 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99499757G>A, NC_000007.13:g.99097380G>A, NM_032164.4:c.337C>T, NM_032164.3:c.337C>T, NM_032164.2:c.337C>T, NM_001345967.2:c.337C>T, NM_001345967.1:c.337C>T, NM_001345968.2:c.337C>T, NM_001345968.1:c.337C>T, NP_115540.2:p.Leu113Phe, NP_001332896.1:p.Leu113Phe, NP_001332897.1:p.Leu113Phe

Select item 145085097817.

rs1450850978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99498795 (GRCh38)
7:99096418 (GRCh37)
Canonical SPDI:: NC_000007.14:99498794:C:G,NC_000007.14:99498794:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.99498795C>G, NC_000007.14:g.99498795C>T, NC_000007.13:g.99096418C>G, NC_000007.13:g.99096418C>T, NM_032164.4:c.504G>C, NM_032164.4:c.504G>A, NM_032164.3:c.504G>C, NM_032164.3:c.504G>A, NM_032164.2:c.504G>C, NM_032164.2:c.504G>A, NM_001345968.2:c.504G>C, NM_001345968.2:c.504G>A, NM_001345968.1:c.504G>C, NM_001345968.1:c.504G>A, NP_115540.2:p.Glu168Asp, NP_001332897.1:p.Glu168Asp

Select item 145055790118.

rs1450557901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99499676 (GRCh38)
7:99097299 (GRCh37)
Canonical SPDI:: NC_000007.14:99499675:G:A
Gene:: ZNF394 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99499676G>A, NC_000007.13:g.99097299G>A, NM_032164.4:c.418C>T, NM_032164.3:c.418C>T, NM_032164.2:c.418C>T, NM_001345967.2:c.418C>T, NM_001345967.1:c.418C>T, NM_001345968.2:c.418C>T, NM_001345968.1:c.418C>T, NP_115540.2:p.Arg140Trp, NP_001332896.1:p.Arg140Trp, NP_001332897.1:p.Arg140Trp

Select item 144503417919.

rs1445034179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99499788 (GRCh38)
7:99097411 (GRCh37)
Canonical SPDI:: NC_000007.14:99499787:C:G
Gene:: ZNF394 (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99499788C>G, NC_000007.13:g.99097411C>G, NM_032164.4:c.306G>C, NM_032164.3:c.306G>C, NM_032164.2:c.306G>C, NM_001345967.2:c.306G>C, NM_001345967.1:c.306G>C, NM_001345968.2:c.306G>C, NM_001345968.1:c.306G>C, NP_115540.2:p.Gln102His, NP_001332896.1:p.Gln102His, NP_001332897.1:p.Gln102His

Select item 144398803220.

rs1443988032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:99498836 (GRCh38)
7:99096459 (GRCh37)
Canonical SPDI:: NC_000007.14:99498835:C:A,NC_000007.14:99498835:C:T
Gene:: ZNF394 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99498836C>A, NC_000007.14:g.99498836C>T, NC_000007.13:g.99096459C>A, NC_000007.13:g.99096459C>T, NM_032164.4:c.463G>T, NM_032164.4:c.463G>A, NM_032164.3:c.463G>T, NM_032164.3:c.463G>A, NM_032164.2:c.463G>T, NM_032164.2:c.463G>A, NM_001345968.2:c.463G>T, NM_001345968.2:c.463G>A, NM_001345968.1:c.463G>T, NM_001345968.1:c.463G>A, NP_115540.2:p.Val155Leu, NP_115540.2:p.Val155Met, NP_001332897.1:p.Val155Leu, NP_001332897.1:p.Val155Met

dbSNP

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