SNP Links for Protein (Select 1187953357) - SNP

Links from Protein

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Select item 14892667951.

rs1489266795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99479701 (GRCh38)
7:99077324 (GRCh37)
Canonical SPDI:: NC_000007.14:99479700:G:A
Gene:: ZNF789 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99479701G>A, NC_000007.13:g.99077324G>A, NM_213603.3:c.65G>A, NM_213603.2:c.65G>A, XM_024446725.2:c.-3859G>A, XM_017012022.2:c.-781G>A, NR_147003.2:n.369G>A, NR_147003.1:n.367G>A, NM_001351001.2:c.65G>A, NM_001351001.1:c.65G>A, NM_001351004.2:c.-382G>A, NM_001351004.1:c.-382G>A, NM_001351002.2:c.-382G>A, NM_001351002.1:c.-382G>A, NM_001350999.2:c.14G>A, NM_001350999.1:c.14G>A, NM_001351000.2:c.65G>A, NM_001351000.1:c.65G>A, XM_017012018.2:c.65G>A, XM_017012018.1:c.65G>A, NR_147001.2:n.369G>A, NR_147001.1:n.367G>A, NR_147002.2:n.286G>A, NR_147002.1:n.284G>A, NM_001013258.2:c.65G>A, NM_001013258.1:c.65G>A, XM_047420230.1:c.-3992G>A, XM_047420229.1:c.-2357G>A, XM_047420226.1:c.44G>A, XM_047420227.1:c.44G>A, XM_047420231.1:c.65G>A, XM_047420228.1:c.44G>A, NP_998768.2:p.Arg22Lys, NP_001337930.1:p.Arg22Lys, NP_001337928.1:p.Arg5Lys, NP_001337929.1:p.Arg22Lys, XP_016867507.1:p.Arg22Lys, NP_001013276.1:p.Arg22Lys, XP_047276182.1:p.Arg15Lys, XP_047276183.1:p.Arg15Lys, XP_047276187.1:p.Arg22Lys, XP_047276184.1:p.Arg15Lys

Select item 14881629542.

rs1488162954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99486753 (GRCh38)
7:99084376 (GRCh37)
Canonical SPDI:: NC_000007.14:99486752:C:G
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99486753C>G, NC_000007.13:g.99084376C>G, NM_213603.3:c.543C>G, NM_213603.2:c.543C>G, XM_024446725.2:c.258C>G, XM_024446725.1:c.258C>G, XM_017012022.2:c.492C>G, XM_017012022.1:c.492C>G, NM_001351004.2:c.258C>G, NM_001351004.1:c.258C>G, NM_001351002.2:c.258C>G, NM_001351002.1:c.258C>G, NM_001350999.2:c.492C>G, NM_001350999.1:c.492C>G, NM_001351000.2:c.429C>G, NM_001351000.1:c.429C>G, XM_017012018.2:c.543C>G, XM_017012018.1:c.543C>G, NM_001345968.2:c.*188G>C, NM_001345968.1:c.*188G>C, XM_047420230.1:c.258C>G, XM_047420229.1:c.492C>G, XM_047420226.1:c.522C>G, XM_047420227.1:c.522C>G, XM_047420228.1:c.522C>G

Select item 14871768843.

rs1487176884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99487042 (GRCh38)
7:99084665 (GRCh37)
Canonical SPDI:: NC_000007.14:99487041:A:G
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99487042A>G, NC_000007.13:g.99084665A>G, NM_213603.3:c.832A>G, NM_213603.2:c.832A>G, XM_024446725.2:c.547A>G, XM_024446725.1:c.547A>G, XM_017012022.2:c.781A>G, XM_017012022.1:c.781A>G, NM_001351004.2:c.547A>G, NM_001351004.1:c.547A>G, NM_001351002.2:c.547A>G, NM_001351002.1:c.547A>G, NM_001350999.2:c.781A>G, NM_001350999.1:c.781A>G, NM_001351000.2:c.718A>G, NM_001351000.1:c.718A>G, XM_017012018.2:c.832A>G, XM_017012018.1:c.832A>G, XM_047420230.1:c.547A>G, XM_047420229.1:c.781A>G, XM_047420226.1:c.811A>G, XM_047420227.1:c.811A>G, XM_047420228.1:c.811A>G, NP_998768.2:p.Ile278Val, XP_024302493.1:p.Ile183Val, XP_016867511.1:p.Ile261Val, NP_001337933.1:p.Ile183Val, NP_001337931.1:p.Ile183Val, NP_001337928.1:p.Ile261Val, NP_001337929.1:p.Ile240Val, XP_016867507.1:p.Ile278Val, XP_047276186.1:p.Ile183Val, XP_047276185.1:p.Ile261Val, XP_047276182.1:p.Ile271Val, XP_047276183.1:p.Ile271Val, XP_047276184.1:p.Ile271Val

Select item 14832890474.

rs1483289047 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 7:99487161 (GRCh38)
7:99084785 (GRCh37)
Canonical SPDI:: NC_000007.14:99487161:T:TTT
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99487162_99487163insTT, NC_000007.13:g.99084785_99084786insTT, NM_213603.3:c.952_953insTT, NM_213603.2:c.952_953insTT, XM_024446725.2:c.667_668insTT, XM_024446725.1:c.667_668insTT, XM_017012022.2:c.901_902insTT, XM_017012022.1:c.901_902insTT, NM_001351004.2:c.667_668insTT, NM_001351004.1:c.667_668insTT, NM_001351002.2:c.667_668insTT, NM_001351002.1:c.667_668insTT, NM_001350999.2:c.901_902insTT, NM_001350999.1:c.901_902insTT, NM_001351000.2:c.838_839insTT, NM_001351000.1:c.838_839insTT, XM_017012018.2:c.952_953insTT, XM_017012018.1:c.952_953insTT, XM_047420230.1:c.667_668insTT, XM_047420229.1:c.901_902insTT, XM_047420226.1:c.931_932insTT, XM_047420227.1:c.931_932insTT, XM_047420228.1:c.931_932insTT, NP_998768.2:p.Cys318fs, XP_024302493.1:p.Cys223fs, XP_016867511.1:p.Cys301fs, NP_001337933.1:p.Cys223fs, NP_001337931.1:p.Cys223fs, NP_001337928.1:p.Cys301fs, NP_001337929.1:p.Cys280fs, XP_016867507.1:p.Cys318fs, XP_047276186.1:p.Cys223fs, XP_047276185.1:p.Cys301fs, XP_047276182.1:p.Cys311fs, XP_047276183.1:p.Cys311fs, XP_047276184.1:p.Cys311fs

Select item 14808479325.

rs1480847932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99487350 (GRCh38)
7:99084973 (GRCh37)
Canonical SPDI:: NC_000007.14:99487349:T:C
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99487350T>C, NC_000007.13:g.99084973T>C, NM_213603.3:c.1140T>C, NM_213603.2:c.1140T>C, XM_024446725.2:c.855T>C, XM_024446725.1:c.855T>C, XM_017012022.2:c.1089T>C, XM_017012022.1:c.1089T>C, NM_001351004.2:c.855T>C, NM_001351004.1:c.855T>C, NM_001351002.2:c.855T>C, NM_001351002.1:c.855T>C, NM_001350999.2:c.1089T>C, NM_001350999.1:c.1089T>C, NM_001351000.2:c.1026T>C, NM_001351000.1:c.1026T>C, XM_017012018.2:c.1140T>C, XM_017012018.1:c.1140T>C, XM_047420230.1:c.855T>C, XM_047420229.1:c.1089T>C, XM_047420226.1:c.1119T>C, XM_047420227.1:c.1119T>C, XM_047420228.1:c.1119T>C

Select item 14804528176.

rs1480452817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99487293 (GRCh38)
7:99084916 (GRCh37)
Canonical SPDI:: NC_000007.14:99487292:A:G
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99487293A>G, NC_000007.13:g.99084916A>G, NM_213603.3:c.1083A>G, NM_213603.2:c.1083A>G, XM_024446725.2:c.798A>G, XM_024446725.1:c.798A>G, XM_017012022.2:c.1032A>G, XM_017012022.1:c.1032A>G, NM_001351004.2:c.798A>G, NM_001351004.1:c.798A>G, NM_001351002.2:c.798A>G, NM_001351002.1:c.798A>G, NM_001350999.2:c.1032A>G, NM_001350999.1:c.1032A>G, NM_001351000.2:c.969A>G, NM_001351000.1:c.969A>G, XM_017012018.2:c.1083A>G, XM_017012018.1:c.1083A>G, XM_047420230.1:c.798A>G, XM_047420229.1:c.1032A>G, XM_047420226.1:c.1062A>G, XM_047420227.1:c.1062A>G, XM_047420228.1:c.1062A>G

Select item 14683375357.

rs1468337535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99486788 (GRCh38)
7:99084411 (GRCh37)
Canonical SPDI:: NC_000007.14:99486787:G:A
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.99486788G>A, NC_000007.13:g.99084411G>A, NM_213603.3:c.578G>A, NM_213603.2:c.578G>A, XM_024446725.2:c.293G>A, XM_024446725.1:c.293G>A, XM_017012022.2:c.527G>A, XM_017012022.1:c.527G>A, NM_001351004.2:c.293G>A, NM_001351004.1:c.293G>A, NM_001351002.2:c.293G>A, NM_001351002.1:c.293G>A, NM_001350999.2:c.527G>A, NM_001350999.1:c.527G>A, NM_001351000.2:c.464G>A, NM_001351000.1:c.464G>A, XM_017012018.2:c.578G>A, XM_017012018.1:c.578G>A, NM_001345968.2:c.*153C>T, NM_001345968.1:c.*153C>T, XM_047420230.1:c.293G>A, XM_047420229.1:c.527G>A, XM_047420226.1:c.557G>A, XM_047420227.1:c.557G>A, XM_047420228.1:c.557G>A, NP_998768.2:p.Arg193Gln, XP_024302493.1:p.Arg98Gln, XP_016867511.1:p.Arg176Gln, NP_001337933.1:p.Arg98Gln, NP_001337931.1:p.Arg98Gln, NP_001337928.1:p.Arg176Gln, NP_001337929.1:p.Arg155Gln, XP_016867507.1:p.Arg193Gln, XP_047276186.1:p.Arg98Gln, XP_047276185.1:p.Arg176Gln, XP_047276182.1:p.Arg186Gln, XP_047276183.1:p.Arg186Gln, XP_047276184.1:p.Arg186Gln

Select item 14651844698.

rs1465184469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99486869 (GRCh38)
7:99084492 (GRCh37)
Canonical SPDI:: NC_000007.14:99486868:A:G
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99486869A>G, NC_000007.13:g.99084492A>G, NM_213603.3:c.659A>G, NM_213603.2:c.659A>G, XM_024446725.2:c.374A>G, XM_024446725.1:c.374A>G, XM_017012022.2:c.608A>G, XM_017012022.1:c.608A>G, NM_001351004.2:c.374A>G, NM_001351004.1:c.374A>G, NM_001351002.2:c.374A>G, NM_001351002.1:c.374A>G, NM_001350999.2:c.608A>G, NM_001350999.1:c.608A>G, NM_001351000.2:c.545A>G, NM_001351000.1:c.545A>G, XM_017012018.2:c.659A>G, XM_017012018.1:c.659A>G, NM_001345968.2:c.*72T>C, NM_001345968.1:c.*72T>C, XM_047420230.1:c.374A>G, XM_047420229.1:c.608A>G, XM_047420226.1:c.638A>G, XM_047420227.1:c.638A>G, XM_047420228.1:c.638A>G, NP_998768.2:p.Gln220Arg, XP_024302493.1:p.Gln125Arg, XP_016867511.1:p.Gln203Arg, NP_001337933.1:p.Gln125Arg, NP_001337931.1:p.Gln125Arg, NP_001337928.1:p.Gln203Arg, NP_001337929.1:p.Gln182Arg, XP_016867507.1:p.Gln220Arg, XP_047276186.1:p.Gln125Arg, XP_047276185.1:p.Gln203Arg, XP_047276182.1:p.Gln213Arg, XP_047276183.1:p.Gln213Arg, XP_047276184.1:p.Gln213Arg

Select item 14649820149.

rs1464982014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99487254 (GRCh38)
7:99084877 (GRCh37)
Canonical SPDI:: NC_000007.14:99487253:G:A
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99487254G>A, NC_000007.13:g.99084877G>A, NM_213603.3:c.1044G>A, NM_213603.2:c.1044G>A, XM_024446725.2:c.759G>A, XM_024446725.1:c.759G>A, XM_017012022.2:c.993G>A, XM_017012022.1:c.993G>A, NM_001351004.2:c.759G>A, NM_001351004.1:c.759G>A, NM_001351002.2:c.759G>A, NM_001351002.1:c.759G>A, NM_001350999.2:c.993G>A, NM_001350999.1:c.993G>A, NM_001351000.2:c.930G>A, NM_001351000.1:c.930G>A, XM_017012018.2:c.1044G>A, XM_017012018.1:c.1044G>A, XM_047420230.1:c.759G>A, XM_047420229.1:c.993G>A, XM_047420226.1:c.1023G>A, XM_047420227.1:c.1023G>A, XM_047420228.1:c.1023G>A

Select item 146375895810.

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 146289054711.

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 146270055412.

rs1462700554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99486850 (GRCh38)
7:99084473 (GRCh37)
Canonical SPDI:: NC_000007.14:99486849:G:A
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99486850G>A, NC_000007.13:g.99084473G>A, NM_213603.3:c.640G>A, NM_213603.2:c.640G>A, XM_024446725.2:c.355G>A, XM_024446725.1:c.355G>A, XM_017012022.2:c.589G>A, XM_017012022.1:c.589G>A, NM_001351004.2:c.355G>A, NM_001351004.1:c.355G>A, NM_001351002.2:c.355G>A, NM_001351002.1:c.355G>A, NM_001350999.2:c.589G>A, NM_001350999.1:c.589G>A, NM_001351000.2:c.526G>A, NM_001351000.1:c.526G>A, XM_017012018.2:c.640G>A, XM_017012018.1:c.640G>A, NM_001345968.2:c.*91C>T, NM_001345968.1:c.*91C>T, XM_047420230.1:c.355G>A, XM_047420229.1:c.589G>A, XM_047420226.1:c.619G>A, XM_047420227.1:c.619G>A, XM_047420228.1:c.619G>A, NP_998768.2:p.Ala214Thr, XP_024302493.1:p.Ala119Thr, XP_016867511.1:p.Ala197Thr, NP_001337933.1:p.Ala119Thr, NP_001337931.1:p.Ala119Thr, NP_001337928.1:p.Ala197Thr, NP_001337929.1:p.Ala176Thr, XP_016867507.1:p.Ala214Thr, XP_047276186.1:p.Ala119Thr, XP_047276185.1:p.Ala197Thr, XP_047276182.1:p.Ala207Thr, XP_047276183.1:p.Ala207Thr, XP_047276184.1:p.Ala207Thr

Select item 145859986413.

rs1458599864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99487115 (GRCh38)
7:99084738 (GRCh37)
Canonical SPDI:: NC_000007.14:99487114:G:A
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.99487115G>A, NC_000007.13:g.99084738G>A, NM_213603.3:c.905G>A, NM_213603.2:c.905G>A, XM_024446725.2:c.620G>A, XM_024446725.1:c.620G>A, XM_017012022.2:c.854G>A, XM_017012022.1:c.854G>A, NM_001351004.2:c.620G>A, NM_001351004.1:c.620G>A, NM_001351002.2:c.620G>A, NM_001351002.1:c.620G>A, NM_001350999.2:c.854G>A, NM_001350999.1:c.854G>A, NM_001351000.2:c.791G>A, NM_001351000.1:c.791G>A, XM_017012018.2:c.905G>A, XM_017012018.1:c.905G>A, XM_047420230.1:c.620G>A, XM_047420229.1:c.854G>A, XM_047420226.1:c.884G>A, XM_047420227.1:c.884G>A, XM_047420228.1:c.884G>A, NP_998768.2:p.Arg302Gln, XP_024302493.1:p.Arg207Gln, XP_016867511.1:p.Arg285Gln, NP_001337933.1:p.Arg207Gln, NP_001337931.1:p.Arg207Gln, NP_001337928.1:p.Arg285Gln, NP_001337929.1:p.Arg264Gln, XP_016867507.1:p.Arg302Gln, XP_047276186.1:p.Arg207Gln, XP_047276185.1:p.Arg285Gln, XP_047276182.1:p.Arg295Gln, XP_047276183.1:p.Arg295Gln, XP_047276184.1:p.Arg295Gln

Select item 145810870014.

rs1458108700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99486913 (GRCh38)
7:99084536 (GRCh37)
Canonical SPDI:: NC_000007.14:99486912:G:A
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99486913G>A, NC_000007.13:g.99084536G>A, NM_213603.3:c.703G>A, NM_213603.2:c.703G>A, XM_024446725.2:c.418G>A, XM_024446725.1:c.418G>A, XM_017012022.2:c.652G>A, XM_017012022.1:c.652G>A, NM_001351004.2:c.418G>A, NM_001351004.1:c.418G>A, NM_001351002.2:c.418G>A, NM_001351002.1:c.418G>A, NM_001350999.2:c.652G>A, NM_001350999.1:c.652G>A, NM_001351000.2:c.589G>A, NM_001351000.1:c.589G>A, XM_017012018.2:c.703G>A, XM_017012018.1:c.703G>A, NM_001345968.2:c.*28C>T, NM_001345968.1:c.*28C>T, XM_047420230.1:c.418G>A, XM_047420229.1:c.652G>A, XM_047420226.1:c.682G>A, XM_047420227.1:c.682G>A, XM_047420228.1:c.682G>A, NP_998768.2:p.Gly235Arg, XP_024302493.1:p.Gly140Arg, XP_016867511.1:p.Gly218Arg, NP_001337933.1:p.Gly140Arg, NP_001337931.1:p.Gly140Arg, NP_001337928.1:p.Gly218Arg, NP_001337929.1:p.Gly197Arg, XP_016867507.1:p.Gly235Arg, XP_047276186.1:p.Gly140Arg, XP_047276185.1:p.Gly218Arg, XP_047276182.1:p.Gly228Arg, XP_047276183.1:p.Gly228Arg, XP_047276184.1:p.Gly228Arg

Select item 145692022315.

rs1456920223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99486480 (GRCh38)
7:99084103 (GRCh37)
Canonical SPDI:: NC_000007.14:99486479:T:C
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
HGVS:: NC_000007.14:g.99486480T>C, NC_000007.13:g.99084103T>C, NM_213603.3:c.270T>C, NM_213603.2:c.270T>C, XM_024446725.2:c.-16T>C, XM_024446725.1:c.-16T>C, XM_017012022.2:c.219T>C, XM_017012022.1:c.219T>C, NM_001351004.2:c.-16T>C, NM_001351004.1:c.-16T>C, NM_001351002.2:c.-16T>C, NM_001351002.1:c.-16T>C, NM_001350999.2:c.219T>C, NM_001350999.1:c.219T>C, NM_001351000.2:c.156T>C, NM_001351000.1:c.156T>C, XM_017012018.2:c.270T>C, XM_017012018.1:c.270T>C, XM_047420230.1:c.-16T>C, XM_047420229.1:c.219T>C, XM_047420226.1:c.249T>C, XM_047420227.1:c.249T>C, XM_047420228.1:c.249T>C

Select item 145479950216.

rs1454799502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99479687 (GRCh38)
7:99077310 (GRCh37)
Canonical SPDI:: NC_000007.14:99479686:G:A
Gene:: ZNF789 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000177/3 (TOMMO)
HGVS:: NC_000007.14:g.99479687G>A, NC_000007.13:g.99077310G>A, NM_213603.3:c.51G>A, NM_213603.2:c.51G>A, XM_024446725.2:c.-3873G>A, XM_017012022.2:c.-795G>A, NR_147003.2:n.355G>A, NR_147003.1:n.353G>A, NM_001351001.2:c.51G>A, NM_001351001.1:c.51G>A, NM_001351004.2:c.-396G>A, NM_001351004.1:c.-396G>A, NM_001351002.2:c.-396G>A, NM_001351002.1:c.-396G>A, NM_001350999.2:c.-1G>A, NM_001350999.1:c.-1G>A, NM_001351000.2:c.51G>A, NM_001351000.1:c.51G>A, XM_017012018.2:c.51G>A, XM_017012018.1:c.51G>A, NR_147001.2:n.355G>A, NR_147001.1:n.353G>A, NR_147002.2:n.272G>A, NR_147002.1:n.270G>A, NM_001013258.2:c.51G>A, NM_001013258.1:c.51G>A, XM_047420230.1:c.-4006G>A, XM_047420229.1:c.-2371G>A, XM_047420226.1:c.30G>A, XM_047420227.1:c.30G>A, XM_047420231.1:c.51G>A, XM_047420228.1:c.30G>A

Select item 144672513817.

rs1446725138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:99487467 (GRCh38)
7:99085090 (GRCh37)
Canonical SPDI:: NC_000007.14:99487466:C:A,NC_000007.14:99487466:C:T
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99487467C>A, NC_000007.14:g.99487467C>T, NC_000007.13:g.99085090C>A, NC_000007.13:g.99085090C>T, NM_213603.3:c.1257C>A, NM_213603.3:c.1257C>T, NM_213603.2:c.1257C>A, NM_213603.2:c.1257C>T, XM_024446725.2:c.972C>A, XM_024446725.2:c.972C>T, XM_024446725.1:c.972C>A, XM_024446725.1:c.972C>T, XM_017012022.2:c.1206C>A, XM_017012022.2:c.1206C>T, XM_017012022.1:c.1206C>A, XM_017012022.1:c.1206C>T, NM_001351004.2:c.972C>A, NM_001351004.2:c.972C>T, NM_001351004.1:c.972C>A, NM_001351004.1:c.972C>T, NM_001351002.2:c.972C>A, NM_001351002.2:c.972C>T, NM_001351002.1:c.972C>A, NM_001351002.1:c.972C>T, NM_001350999.2:c.1206C>A, NM_001350999.2:c.1206C>T, NM_001350999.1:c.1206C>A, NM_001350999.1:c.1206C>T, NM_001351000.2:c.1143C>A, NM_001351000.2:c.1143C>T, NM_001351000.1:c.1143C>A, NM_001351000.1:c.1143C>T, XM_017012018.2:c.1257C>A, XM_017012018.2:c.1257C>T, XM_017012018.1:c.1257C>A, XM_017012018.1:c.1257C>T, XM_047420230.1:c.972C>A, XM_047420230.1:c.972C>T, XM_047420229.1:c.1206C>A, XM_047420229.1:c.1206C>T, XM_047420226.1:c.1236C>A, XM_047420226.1:c.1236C>T, XM_047420227.1:c.1236C>A, XM_047420227.1:c.1236C>T, XM_047420228.1:c.1236C>A, XM_047420228.1:c.1236C>T, NP_998768.2:p.His419Gln, XP_024302493.1:p.His324Gln, XP_016867511.1:p.His402Gln, NP_001337933.1:p.His324Gln, NP_001337931.1:p.His324Gln, NP_001337928.1:p.His402Gln, NP_001337929.1:p.His381Gln, XP_016867507.1:p.His419Gln, XP_047276186.1:p.His324Gln, XP_047276185.1:p.His402Gln, XP_047276182.1:p.His412Gln, XP_047276183.1:p.His412Gln, XP_047276184.1:p.His412Gln

Select item 144666217618.

rs1446662176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:99487414 (GRCh38)
7:99085037 (GRCh37)
Canonical SPDI:: NC_000007.14:99487413:T:A,NC_000007.14:99487413:T:C
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.99487414T>A, NC_000007.14:g.99487414T>C, NC_000007.13:g.99085037T>A, NC_000007.13:g.99085037T>C, NM_213603.3:c.1204T>A, NM_213603.3:c.1204T>C, NM_213603.2:c.1204T>A, NM_213603.2:c.1204T>C, XM_024446725.2:c.919T>A, XM_024446725.2:c.919T>C, XM_024446725.1:c.919T>A, XM_024446725.1:c.919T>C, XM_017012022.2:c.1153T>A, XM_017012022.2:c.1153T>C, XM_017012022.1:c.1153T>A, XM_017012022.1:c.1153T>C, NM_001351004.2:c.919T>A, NM_001351004.2:c.919T>C, NM_001351004.1:c.919T>A, NM_001351004.1:c.919T>C, NM_001351002.2:c.919T>A, NM_001351002.2:c.919T>C, NM_001351002.1:c.919T>A, NM_001351002.1:c.919T>C, NM_001350999.2:c.1153T>A, NM_001350999.2:c.1153T>C, NM_001350999.1:c.1153T>A, NM_001350999.1:c.1153T>C, NM_001351000.2:c.1090T>A, NM_001351000.2:c.1090T>C, NM_001351000.1:c.1090T>A, NM_001351000.1:c.1090T>C, XM_017012018.2:c.1204T>A, XM_017012018.2:c.1204T>C, XM_017012018.1:c.1204T>A, XM_017012018.1:c.1204T>C, XM_047420230.1:c.919T>A, XM_047420230.1:c.919T>C, XM_047420229.1:c.1153T>A, XM_047420229.1:c.1153T>C, XM_047420226.1:c.1183T>A, XM_047420226.1:c.1183T>C, XM_047420227.1:c.1183T>A, XM_047420227.1:c.1183T>C, XM_047420228.1:c.1183T>A, XM_047420228.1:c.1183T>C, NP_998768.2:p.Cys402Ser, NP_998768.2:p.Cys402Arg, XP_024302493.1:p.Cys307Ser, XP_024302493.1:p.Cys307Arg, XP_016867511.1:p.Cys385Ser, XP_016867511.1:p.Cys385Arg, NP_001337933.1:p.Cys307Ser, NP_001337933.1:p.Cys307Arg, NP_001337931.1:p.Cys307Ser, NP_001337931.1:p.Cys307Arg, NP_001337928.1:p.Cys385Ser, NP_001337928.1:p.Cys385Arg, NP_001337929.1:p.Cys364Ser, NP_001337929.1:p.Cys364Arg, XP_016867507.1:p.Cys402Ser, XP_016867507.1:p.Cys402Arg, XP_047276186.1:p.Cys307Ser, XP_047276186.1:p.Cys307Arg, XP_047276185.1:p.Cys385Ser, XP_047276185.1:p.Cys385Arg, XP_047276182.1:p.Cys395Ser, XP_047276182.1:p.Cys395Arg, XP_047276183.1:p.Cys395Ser, XP_047276183.1:p.Cys395Arg, XP_047276184.1:p.Cys395Ser, XP_047276184.1:p.Cys395Arg

Select item 144629796819.

rs1446297968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:99486775 (GRCh38)
7:99084398 (GRCh37)
Canonical SPDI:: NC_000007.14:99486774:T:G
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99486775T>G, NC_000007.13:g.99084398T>G, NM_213603.3:c.565T>G, NM_213603.2:c.565T>G, XM_024446725.2:c.280T>G, XM_024446725.1:c.280T>G, XM_017012022.2:c.514T>G, XM_017012022.1:c.514T>G, NM_001351004.2:c.280T>G, NM_001351004.1:c.280T>G, NM_001351002.2:c.280T>G, NM_001351002.1:c.280T>G, NM_001350999.2:c.514T>G, NM_001350999.1:c.514T>G, NM_001351000.2:c.451T>G, NM_001351000.1:c.451T>G, XM_017012018.2:c.565T>G, XM_017012018.1:c.565T>G, NM_001345968.2:c.*166A>C, NM_001345968.1:c.*166A>C, XM_047420230.1:c.280T>G, XM_047420229.1:c.514T>G, XM_047420226.1:c.544T>G, XM_047420227.1:c.544T>G, XM_047420228.1:c.544T>G, NP_998768.2:p.Leu189Val, XP_024302493.1:p.Leu94Val, XP_016867511.1:p.Leu172Val, NP_001337933.1:p.Leu94Val, NP_001337931.1:p.Leu94Val, NP_001337928.1:p.Leu172Val, NP_001337929.1:p.Leu151Val, XP_016867507.1:p.Leu189Val, XP_047276186.1:p.Leu94Val, XP_047276185.1:p.Leu172Val, XP_047276182.1:p.Leu182Val, XP_047276183.1:p.Leu182Val, XP_047276184.1:p.Leu182Val

Select item 144599182420.

rs1445991824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99487198 (GRCh38)
7:99084821 (GRCh37)
Canonical SPDI:: NC_000007.14:99487197:T:C
Gene:: ZNF394 (Varview), ZNF789 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99487198T>C, NC_000007.13:g.99084821T>C, NM_213603.3:c.988T>C, NM_213603.2:c.988T>C, XM_024446725.2:c.703T>C, XM_024446725.1:c.703T>C, XM_017012022.2:c.937T>C, XM_017012022.1:c.937T>C, NM_001351004.2:c.703T>C, NM_001351004.1:c.703T>C, NM_001351002.2:c.703T>C, NM_001351002.1:c.703T>C, NM_001350999.2:c.937T>C, NM_001350999.1:c.937T>C, NM_001351000.2:c.874T>C, NM_001351000.1:c.874T>C, XM_017012018.2:c.988T>C, XM_017012018.1:c.988T>C, XM_047420230.1:c.703T>C, XM_047420229.1:c.937T>C, XM_047420226.1:c.967T>C, XM_047420227.1:c.967T>C, XM_047420228.1:c.967T>C, NP_998768.2:p.Cys330Arg, XP_024302493.1:p.Cys235Arg, XP_016867511.1:p.Cys313Arg, NP_001337933.1:p.Cys235Arg, NP_001337931.1:p.Cys235Arg, NP_001337928.1:p.Cys313Arg, NP_001337929.1:p.Cys292Arg, XP_016867507.1:p.Cys330Arg, XP_047276186.1:p.Cys235Arg, XP_047276185.1:p.Cys313Arg, XP_047276182.1:p.Cys323Arg, XP_047276183.1:p.Cys323Arg, XP_047276184.1:p.Cys323Arg

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