SNP Links for Protein (Select 124517687) - SNP

Links from Protein

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Select item 14906654771.

rs1490665477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9468182 (GRCh38)
19:9578858 (GRCh37)
Canonical SPDI:: NC_000019.10:9468181:G:A
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.9468182G>A, NC_000019.9:g.9578858G>A, NG_054924.1:g.43511C>T, NM_152476.3:c.765C>T, NM_152476.2:c.765C>T, NM_001351678.2:c.447C>T, NM_001351678.1:c.447C>T, XM_011527697.3:c.765C>T, XM_011527697.2:c.765C>T, XM_011527697.1:c.765C>T, XM_011527696.3:c.765C>T, XM_011527696.2:c.765C>T, XM_011527696.1:c.765C>T, XR_007066601.1:n.988C>T

Select item 14894214392.

rs1489421439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9466820 (GRCh38)
19:9577496 (GRCh37)
Canonical SPDI:: NC_000019.10:9466819:T:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.9466820T>C, NC_000019.9:g.9577496T>C, NG_054924.1:g.44873A>G, NM_152476.3:c.2127A>G, NM_152476.2:c.2127A>G, NM_001351678.2:c.1809A>G, NM_001351678.1:c.1809A>G, XM_011527697.3:c.2127A>G, XM_011527697.2:c.2127A>G, XM_011527697.1:c.2127A>G, XM_011527696.3:c.2127A>G, XM_011527696.2:c.2127A>G, XM_011527696.1:c.2127A>G, XR_007066601.1:n.2350A>G, NP_689689.2:p.Ile709Met, NP_001338607.1:p.Ile603Met, XP_011525999.1:p.Ile709Met, XP_011525998.1:p.Ile709Met

Select item 14883562893.

rs1488356289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9468023 (GRCh38)
19:9578699 (GRCh37)
Canonical SPDI:: NC_000019.10:9468022:T:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9468023T>C, NC_000019.9:g.9578699T>C, NG_054924.1:g.43670A>G, NM_152476.3:c.924A>G, NM_152476.2:c.924A>G, NM_001351678.2:c.606A>G, NM_001351678.1:c.606A>G, XM_011527697.3:c.924A>G, XM_011527697.2:c.924A>G, XM_011527697.1:c.924A>G, XM_011527696.3:c.924A>G, XM_011527696.2:c.924A>G, XM_011527696.1:c.924A>G, XR_007066601.1:n.1147A>G

Select item 14881284284.

rs1488128428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9469153 (GRCh38)
19:9579829 (GRCh37)
Canonical SPDI:: NC_000019.10:9469152:G:A
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.9469153G>A, NC_000019.9:g.9579829G>A, NG_054924.1:g.42540C>T, NM_152476.3:c.564C>T, NM_152476.2:c.564C>T, NM_001351678.2:c.246C>T, NM_001351678.1:c.246C>T, XM_011527697.3:c.564C>T, XM_011527697.2:c.564C>T, XM_011527697.1:c.564C>T, XM_011527696.3:c.564C>T, XM_011527696.2:c.564C>T, XM_011527696.1:c.564C>T, XR_007066601.1:n.787C>T

Select item 14876054945.

rs1487605494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9470508 (GRCh38)
19:9581184 (GRCh37)
Canonical SPDI:: NC_000019.10:9470507:G:A
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9470508G>A, NC_000019.9:g.9581184G>A, NG_054924.1:g.41185C>T, NM_152476.3:c.332C>T, NM_152476.2:c.332C>T, NM_001351678.2:c.14C>T, NM_001351678.1:c.14C>T, XM_011527697.3:c.332C>T, XM_011527697.2:c.332C>T, XM_011527697.1:c.332C>T, XM_011527696.3:c.332C>T, XM_011527696.2:c.332C>T, XM_011527696.1:c.332C>T, XR_007066601.1:n.555C>T, NP_689689.2:p.Thr111Ile, NP_001338607.1:p.Thr5Ile, XP_011525999.1:p.Thr111Ile, XP_011525998.1:p.Thr111Ile

Select item 14875540386.

rs1487554038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9468119 (GRCh38)
19:9578795 (GRCh37)
Canonical SPDI:: NC_000019.10:9468118:C:T
Gene:: ZNF560 (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=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.9468119C>T, NC_000019.9:g.9578795C>T, NG_054924.1:g.43574G>A, NM_152476.3:c.828G>A, NM_152476.2:c.828G>A, NM_001351678.2:c.510G>A, NM_001351678.1:c.510G>A, XM_011527697.3:c.828G>A, XM_011527697.2:c.828G>A, XM_011527697.1:c.828G>A, XM_011527696.3:c.828G>A, XM_011527696.2:c.828G>A, XM_011527696.1:c.828G>A, XR_007066601.1:n.1051G>A

Select item 14874554727.

rs1487455472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:9468141 (GRCh38)
19:9578817 (GRCh37)
Canonical SPDI:: NC_000019.10:9468140:T:G
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.9468141T>G, NC_000019.9:g.9578817T>G, NG_054924.1:g.43552A>C, NM_152476.3:c.806A>C, NM_152476.2:c.806A>C, NM_001351678.2:c.488A>C, NM_001351678.1:c.488A>C, XM_011527697.3:c.806A>C, XM_011527697.2:c.806A>C, XM_011527697.1:c.806A>C, XM_011527696.3:c.806A>C, XM_011527696.2:c.806A>C, XM_011527696.1:c.806A>C, XR_007066601.1:n.1029A>C, NP_689689.2:p.Lys269Thr, NP_001338607.1:p.Lys163Thr, XP_011525999.1:p.Lys269Thr, XP_011525998.1:p.Lys269Thr

Select item 14872789388.

rs1487278938 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:9466898 (GRCh38)
19:9577574 (GRCh37)
Canonical SPDI:: NC_000019.10:9466897:GG:G
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.9466899del, NC_000019.9:g.9577575del, NG_054924.1:g.44795del, NM_152476.3:c.2049del, NM_152476.2:c.2049del, NM_001351678.2:c.1731del, NM_001351678.1:c.1731del, XM_011527697.3:c.2049del, XM_011527697.2:c.2049del, XM_011527697.1:c.2049del, XM_011527696.3:c.2049del, XM_011527696.2:c.2049del, XM_011527696.1:c.2049del, XR_007066601.1:n.2272del, NP_689689.2:p.Ser684fs, NP_001338607.1:p.Ser578fs, XP_011525999.1:p.Ser684fs, XP_011525998.1:p.Ser684fs

Select item 14869427009.

rs1486942700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:9467035 (GRCh38)
19:9577711 (GRCh37)
Canonical SPDI:: NC_000019.10:9467034:C:G,NC_000019.10:9467034:C:T
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.9467035C>G, NC_000019.10:g.9467035C>T, NC_000019.9:g.9577711C>G, NC_000019.9:g.9577711C>T, NG_054924.1:g.44658G>C, NG_054924.1:g.44658G>A, NM_152476.3:c.1912G>C, NM_152476.3:c.1912G>A, NM_152476.2:c.1912G>C, NM_152476.2:c.1912G>A, NM_001351678.2:c.1594G>C, NM_001351678.2:c.1594G>A, NM_001351678.1:c.1594G>C, NM_001351678.1:c.1594G>A, XM_011527697.3:c.1912G>C, XM_011527697.3:c.1912G>A, XM_011527697.2:c.1912G>C, XM_011527697.2:c.1912G>A, XM_011527697.1:c.1912G>C, XM_011527697.1:c.1912G>A, XM_011527696.3:c.1912G>C, XM_011527696.3:c.1912G>A, XM_011527696.2:c.1912G>C, XM_011527696.2:c.1912G>A, XM_011527696.1:c.1912G>C, XM_011527696.1:c.1912G>A, XR_007066601.1:n.2135G>C, XR_007066601.1:n.2135G>A, NP_689689.2:p.Val638Leu, NP_689689.2:p.Val638Ile, NP_001338607.1:p.Val532Leu, NP_001338607.1:p.Val532Ile, XP_011525999.1:p.Val638Leu, XP_011525999.1:p.Val638Ile, XP_011525998.1:p.Val638Leu, XP_011525998.1:p.Val638Ile

Select item 148496733310.

rs1484967333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9475296 (GRCh38)
19:9585972 (GRCh37)
Canonical SPDI:: NC_000019.10:9475295:T:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9475296T>C, NC_000019.9:g.9585972T>C, NG_054924.1:g.36397A>G, NM_152476.3:c.18A>G, NM_152476.2:c.18A>G, NM_001351678.2:c.-297A>G, NM_001351678.1:c.-297A>G, XM_011527697.3:c.18A>G, XM_011527697.2:c.18A>G, XM_011527697.1:c.18A>G, XM_011527696.3:c.18A>G, XM_011527696.2:c.18A>G, XM_011527696.1:c.18A>G, XR_007066601.1:n.241A>G

Select item 148462343811.

rs1484623438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9467101 (GRCh38)
19:9577777 (GRCh37)
Canonical SPDI:: NC_000019.10:9467100:T:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9467101T>C, NC_000019.9:g.9577777T>C, NG_054924.1:g.44592A>G, NM_152476.3:c.1846A>G, NM_152476.2:c.1846A>G, NM_001351678.2:c.1528A>G, NM_001351678.1:c.1528A>G, XM_011527697.3:c.1846A>G, XM_011527697.2:c.1846A>G, XM_011527697.1:c.1846A>G, XM_011527696.3:c.1846A>G, XM_011527696.2:c.1846A>G, XM_011527696.1:c.1846A>G, XR_007066601.1:n.2069A>G, NP_689689.2:p.Thr616Ala, NP_001338607.1:p.Thr510Ala, XP_011525999.1:p.Thr616Ala, XP_011525998.1:p.Thr616Ala

Select item 148462151912.

rs1484621519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9467319 (GRCh38)
19:9577995 (GRCh37)
Canonical SPDI:: NC_000019.10:9467318:A:G
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000019.10:g.9467319A>G, NC_000019.9:g.9577995A>G, NG_054924.1:g.44374T>C, NM_152476.3:c.1628T>C, NM_152476.2:c.1628T>C, NM_001351678.2:c.1310T>C, NM_001351678.1:c.1310T>C, XM_011527697.3:c.1628T>C, XM_011527697.2:c.1628T>C, XM_011527697.1:c.1628T>C, XM_011527696.3:c.1628T>C, XM_011527696.2:c.1628T>C, XM_011527696.1:c.1628T>C, XR_007066601.1:n.1851T>C, NP_689689.2:p.Leu543Pro, NP_001338607.1:p.Leu437Pro, XP_011525999.1:p.Leu543Pro, XP_011525998.1:p.Leu543Pro

Select item 148326827513.

rs1483268275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:9470438 (GRCh38)
19:9581114 (GRCh37)
Canonical SPDI:: NC_000019.10:9470437:C:A,NC_000019.10:9470437:C:T
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.9470438C>A, NC_000019.10:g.9470438C>T, NC_000019.9:g.9581114C>A, NC_000019.9:g.9581114C>T, NG_054924.1:g.41255G>T, NG_054924.1:g.41255G>A, NM_152476.3:c.402G>T, NM_152476.3:c.402G>A, NM_152476.2:c.402G>T, NM_152476.2:c.402G>A, NM_001351678.2:c.84G>T, NM_001351678.2:c.84G>A, NM_001351678.1:c.84G>T, NM_001351678.1:c.84G>A, XM_011527697.3:c.402G>T, XM_011527697.3:c.402G>A, XM_011527697.2:c.402G>T, XM_011527697.2:c.402G>A, XM_011527697.1:c.402G>T, XM_011527697.1:c.402G>A, XM_011527696.3:c.402G>T, XM_011527696.3:c.402G>A, XM_011527696.2:c.402G>T, XM_011527696.2:c.402G>A, XM_011527696.1:c.402G>T, XM_011527696.1:c.402G>A, XR_007066601.1:n.625G>T, XR_007066601.1:n.625G>A

Select item 148181242614.

rs1481812426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:9474246 (GRCh38)
19:9584922 (GRCh37)
Canonical SPDI:: NC_000019.10:9474245:A:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9474246A>C, NC_000019.9:g.9584922A>C, NG_054924.1:g.37447T>G, NM_152476.3:c.110T>G, NM_152476.2:c.110T>G, NM_001351678.2:c.-205T>G, NM_001351678.1:c.-205T>G, XM_011527697.3:c.110T>G, XM_011527697.2:c.110T>G, XM_011527697.1:c.110T>G, XM_011527696.3:c.110T>G, XM_011527696.2:c.110T>G, XM_011527696.1:c.110T>G, XR_007066601.1:n.333T>G, NP_689689.2:p.Leu37Ter, XP_011525999.1:p.Leu37Ter, XP_011525998.1:p.Leu37Ter

Select item 147785300515.

rs1477853005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9474206 (GRCh38)
19:9584882 (GRCh37)
Canonical SPDI:: NC_000019.10:9474205:G:A
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.9474206G>A, NC_000019.9:g.9584882G>A, NG_054924.1:g.37487C>T, NM_152476.3:c.150C>T, NM_152476.2:c.150C>T, NM_001351678.2:c.-165C>T, NM_001351678.1:c.-165C>T, XM_011527697.3:c.150C>T, XM_011527697.2:c.150C>T, XM_011527697.1:c.150C>T, XM_011527696.3:c.150C>T, XM_011527696.2:c.150C>T, XM_011527696.1:c.150C>T, XR_007066601.1:n.373C>T

Select item 147728485116.

rs1477284851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9468238 (GRCh38)
19:9578914 (GRCh37)
Canonical SPDI:: NC_000019.10:9468237:T:C
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.9468238T>C, NC_000019.9:g.9578914T>C, NG_054924.1:g.43455A>G, NM_152476.3:c.709A>G, NM_152476.2:c.709A>G, NM_001351678.2:c.391A>G, NM_001351678.1:c.391A>G, XM_011527697.3:c.709A>G, XM_011527697.2:c.709A>G, XM_011527697.1:c.709A>G, XM_011527696.3:c.709A>G, XM_011527696.2:c.709A>G, XM_011527696.1:c.709A>G, XR_007066601.1:n.932A>G, NP_689689.2:p.Asn237Asp, NP_001338607.1:p.Asn131Asp, XP_011525999.1:p.Asn237Asp, XP_011525998.1:p.Asn237Asp

Select item 147648973317.

rs1476489733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9467345 (GRCh38)
19:9578021 (GRCh37)
Canonical SPDI:: NC_000019.10:9467344:G:A
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.9467345G>A, NC_000019.9:g.9578021G>A, NG_054924.1:g.44348C>T, NM_152476.3:c.1602C>T, NM_152476.2:c.1602C>T, NM_001351678.2:c.1284C>T, NM_001351678.1:c.1284C>T, XM_011527697.3:c.1602C>T, XM_011527697.2:c.1602C>T, XM_011527697.1:c.1602C>T, XM_011527696.3:c.1602C>T, XM_011527696.2:c.1602C>T, XM_011527696.1:c.1602C>T, XR_007066601.1:n.1825C>T

Select item 147445149818.

rs1474451498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9468003 (GRCh38)
19:9578679 (GRCh37)
Canonical SPDI:: NC_000019.10:9468002:C:T
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.9468003C>T, NC_000019.9:g.9578679C>T, NG_054924.1:g.43690G>A, NM_152476.3:c.944G>A, NM_152476.2:c.944G>A, NM_001351678.2:c.626G>A, NM_001351678.1:c.626G>A, XM_011527697.3:c.944G>A, XM_011527697.2:c.944G>A, XM_011527697.1:c.944G>A, XM_011527696.3:c.944G>A, XM_011527696.2:c.944G>A, XM_011527696.1:c.944G>A, XR_007066601.1:n.1167G>A, NP_689689.2:p.Ser315Asn, NP_001338607.1:p.Ser209Asn, XP_011525999.1:p.Ser315Asn, XP_011525998.1:p.Ser315Asn

Select item 147322738819.

rs1473227388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9466763 (GRCh38)
19:9577439 (GRCh37)
Canonical SPDI:: NC_000019.10:9466762:A:G
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.9466763A>G, NC_000019.9:g.9577439A>G, NG_054924.1:g.44930T>C, NM_152476.3:c.2184T>C, NM_152476.2:c.2184T>C, NM_001351678.2:c.1866T>C, NM_001351678.1:c.1866T>C, XM_011527697.3:c.2184T>C, XM_011527697.2:c.2184T>C, XM_011527697.1:c.2184T>C, XM_011527696.3:c.2184T>C, XM_011527696.2:c.2184T>C, XM_011527696.1:c.2184T>C, XR_007066601.1:n.2407T>C

Select item 147162297720.

rs1471622977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9469184 (GRCh38)
19:9579860 (GRCh37)
Canonical SPDI:: NC_000019.10:9469183:C:T
Gene:: ZNF560 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.9469184C>T, NC_000019.9:g.9579860C>T, NG_054924.1:g.42509G>A, NM_152476.3:c.533G>A, NM_152476.2:c.533G>A, NM_001351678.2:c.215G>A, NM_001351678.1:c.215G>A, XM_011527697.3:c.533G>A, XM_011527697.2:c.533G>A, XM_011527697.1:c.533G>A, XM_011527696.3:c.533G>A, XM_011527696.2:c.533G>A, XM_011527696.1:c.533G>A, XR_007066601.1:n.756G>A, NP_689689.2:p.Trp178Ter, NP_001338607.1:p.Trp72Ter, XP_011525999.1:p.Trp178Ter, XP_011525998.1:p.Trp178Ter

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