SNP Links for Nucleotide (Select 257470988) - SNP

Links from Nucleotide

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Select item 14890509901.

rs1489050990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:58061642 (GRCh38)
19:58573010 (GRCh37)
Canonical SPDI:: NC_000019.10:58061641:G:A,NC_000019.10:58061641:G:T
Gene:: ZNF135 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58061642G>A, NC_000019.10:g.58061642G>T, NC_000019.9:g.58573010G>A, NC_000019.9:g.58573010G>T, XM_006723362.5:c.96G>A, XM_006723362.5:c.96G>T, XM_006723362.4:c.96G>A, XM_006723362.4:c.96G>T, XM_006723362.3:c.96G>A, XM_006723362.3:c.96G>T, XM_006723362.2:c.96G>A, XM_006723362.2:c.96G>T, XM_006723362.1:c.96G>A, XM_006723362.1:c.96G>T, XM_006723363.4:c.96G>A, XM_006723363.4:c.96G>T, XM_006723363.3:c.96G>A, XM_006723363.3:c.96G>T, XM_006723363.2:c.96G>A, XM_006723363.2:c.96G>T, XM_006723363.1:c.96G>A, XM_006723363.1:c.96G>T, NM_003436.4:c.96G>A, NM_003436.4:c.96G>T, NM_003436.3:c.96G>A, NM_003436.3:c.96G>T, NM_001289402.2:c.-31G>A, NM_001289402.2:c.-31G>T, NM_001289402.1:c.-31G>A, NM_001289402.1:c.-31G>T, NM_001289401.2:c.96G>A, NM_001289401.2:c.96G>T, NM_001289401.1:c.96G>A, NM_001289401.1:c.96G>T, XM_005259211.2:c.132G>A, XM_005259211.2:c.132G>T, XM_005259211.1:c.132G>A, XM_005259211.1:c.132G>T, XM_047439363.1:c.96G>A, XM_047439363.1:c.96G>T, XM_047439364.1:c.-31G>A, XM_047439364.1:c.-31G>T, XM_047439362.1:c.96G>A, XM_047439362.1:c.96G>T, NM_007134.1:c.132G>A, NM_007134.1:c.132G>T, NM_001164529.1:c.132G>A, NM_001164529.1:c.132G>T, NM_001164530.1:c.132G>A, NM_001164530.1:c.132G>T, NM_001164527.1:c.132G>A, NM_001164527.1:c.132G>T, XP_006723425.1:p.Lys32Asn, XP_006723426.1:p.Lys32Asn, NP_003427.3:p.Lys32Asn, NP_001276330.1:p.Lys32Asn, XP_005259268.1:p.Lys44Asn, XP_047295319.1:p.Lys32Asn, XP_047295318.1:p.Lys32Asn, NP_009065.1:p.Lys44Asn, NP_001158001.1:p.Lys44Asn, NP_001158002.1:p.Lys44Asn, NP_001157999.1:p.Lys44Asn

Select item 14887213202.

rs1488721320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58063579 (GRCh38)
19:58574947 (GRCh37)
Canonical SPDI:: NC_000019.10:58063578:C:A
Gene:: ZNF135 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58063579C>A, NC_000019.9:g.58574947C>A, NM_001164527.1:c.330C>A

Select item 14860465843.

rs1486046584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58061675 (GRCh38)
19:58573043 (GRCh37)
Canonical SPDI:: NC_000019.10:58061674:G:T
Gene:: ZNF135 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58061675G>T, NC_000019.9:g.58573043G>T, XM_006723362.5:c.129G>T, XM_006723362.4:c.129G>T, XM_006723362.3:c.129G>T, XM_006723362.2:c.129G>T, XM_006723362.1:c.129G>T, XM_006723363.4:c.129G>T, XM_006723363.3:c.129G>T, XM_006723363.2:c.129G>T, XM_006723363.1:c.129G>T, NM_003436.4:c.129G>T, NM_003436.3:c.129G>T, NM_001289402.2:c.3G>T, NM_001289402.1:c.3G>T, NM_001289401.2:c.129G>T, NM_001289401.1:c.129G>T, XM_005259211.2:c.165G>T, XM_005259211.1:c.165G>T, XM_047439363.1:c.129G>T, XM_047439364.1:c.3G>T, XM_047439362.1:c.129G>T, NM_007134.1:c.165G>T, NM_001164529.1:c.165G>T, NM_001164530.1:c.165G>T, NM_001164527.1:c.165G>T, XP_006723425.1:p.Met43Ile, XP_006723426.1:p.Met43Ile, NP_003427.3:p.Met43Ile, NP_001276331.1:p.Met1Ile, NP_001276330.1:p.Met43Ile, XP_005259268.1:p.Met55Ile, XP_047295319.1:p.Met43Ile, XP_047295320.1:p.Met1Ile, XP_047295318.1:p.Met43Ile, NP_009065.1:p.Met55Ile, NP_001158001.1:p.Met55Ile, NP_001158002.1:p.Met55Ile, NP_001157999.1:p.Met55Ile

Select item 14782053514.

rs1478205351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58063880 (GRCh38)
19:58575248 (GRCh37)
Canonical SPDI:: NC_000019.10:58063879:G:T
Gene:: ZNF135 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.58063880G>T, NC_000019.9:g.58575248G>T, NM_001164527.1:c.*259G>T

Select item 14640108915.

rs1464010891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:58059276 (GRCh38)
19:58570644 (GRCh37)
Canonical SPDI:: NC_000019.10:58059275:G:A,NC_000019.10:58059275:G:T
Gene:: ZNF135 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58059276G>A, NC_000019.10:g.58059276G>T, NC_000019.9:g.58570644G>A, NC_000019.9:g.58570644G>T, XM_006723362.5:c.-69G>A, XM_006723362.5:c.-69G>T, XM_006723362.4:c.-69G>A, XM_006723362.4:c.-69G>T, XM_006723362.3:c.-69G>A, XM_006723362.3:c.-69G>T, XM_006723362.2:c.-69G>A, XM_006723362.2:c.-69G>T, NM_003436.3:c.-64G>A, NM_003436.3:c.-64G>T, XM_005259211.2:c.35G>A, XM_005259211.2:c.35G>T, XM_005259211.1:c.35G>A, XM_005259211.1:c.35G>T, NM_001289402.1:c.-558G>A, NM_001289402.1:c.-558G>T, NM_001289401.1:c.-69G>A, NM_001289401.1:c.-69G>T, XM_047439362.1:c.-64G>A, XM_047439362.1:c.-64G>T, NM_007134.1:c.35G>A, NM_007134.1:c.35G>T, NM_001164529.1:c.35G>A, NM_001164529.1:c.35G>T, NM_001164530.1:c.35G>A, NM_001164530.1:c.35G>T, NM_001164527.1:c.35G>A, NM_001164527.1:c.35G>T, XP_005259268.1:p.Cys12Tyr, XP_005259268.1:p.Cys12Phe, NP_009065.1:p.Cys12Tyr, NP_009065.1:p.Cys12Phe, NP_001158001.1:p.Cys12Tyr, NP_001158001.1:p.Cys12Phe, NP_001158002.1:p.Cys12Tyr, NP_001158002.1:p.Cys12Phe, NP_001157999.1:p.Cys12Tyr, NP_001157999.1:p.Cys12Phe

Select item 14605782706.

rs1460578270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58063697 (GRCh38)
19:58575065 (GRCh37)
Canonical SPDI:: NC_000019.10:58063696:A:G
Gene:: ZNF135 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.58063697A>G, NC_000019.9:g.58575065A>G, NM_001164527.1:c.*76A>G

Select item 14603458417.

rs1460345841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58061588 (GRCh38)
19:58572956 (GRCh37)
Canonical SPDI:: NC_000019.10:58061587:G:A
Gene:: ZNF135 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.58061588G>A, NC_000019.9:g.58572956G>A, XM_006723362.5:c.42G>A, XM_006723362.4:c.42G>A, XM_006723362.3:c.42G>A, XM_006723362.2:c.42G>A, XM_006723362.1:c.42G>A, XM_006723363.4:c.42G>A, XM_006723363.3:c.42G>A, XM_006723363.2:c.42G>A, XM_006723363.1:c.42G>A, NM_003436.4:c.42G>A, NM_003436.3:c.42G>A, NM_001289402.2:c.-85G>A, NM_001289402.1:c.-85G>A, NM_001289401.2:c.42G>A, NM_001289401.1:c.42G>A, XM_005259211.2:c.78G>A, XM_005259211.1:c.78G>A, XM_047439363.1:c.42G>A, XM_047439364.1:c.-85G>A, XM_047439362.1:c.42G>A, NM_007134.1:c.78G>A, NM_001164529.1:c.78G>A, NM_001164530.1:c.78G>A, NM_001164527.1:c.78G>A

Select item 14578267418.

rs1457826741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58063918 (GRCh38)
19:58575286 (GRCh37)
Canonical SPDI:: NC_000019.10:58063917:C:T
Gene:: ZNF135 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58063918C>T, NC_000019.9:g.58575286C>T, NM_001164527.1:c.*297C>T

Select item 14568444969.

rs1456844496 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGTCGGCTGCCGGTGC [Show Flanks]
Chromosome:: 19:58059263 (GRCh38)
19:58570632 (GRCh37)
Canonical SPDI:: NC_000019.10:58059263:GCAGTGTCGGCTGCCGGTGC:GCAGTGTCGGCTGCCGGTGCAGTGTCGGCTGCCGGTGC
Gene:: ZNF135 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,inframe_insertion,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCAGTGTCGGCTGCCGGTGCAGTGTCGGCTGCCGGTGC=0./0 (ALFA)
GCAGTGTCGGCTGCCGGT=0.000005/1 (GnomAD_exomes)
GCAGTGTCGGCTGCCGGT=0.000008/2 (TOPMED)
GCAGTGTCGGCTGCCGGT=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.58059266_58059283dup, NC_000019.9:g.58570634_58570651dup, XM_006723362.5:c.-79_-62dup, XM_006723362.4:c.-79_-62dup, XM_006723362.3:c.-79_-62dup, XM_006723362.2:c.-79_-62dup, XM_005259211.2:c.25_42dup, XM_005259211.1:c.25_42dup, XM_047439362.1:c.-74_-57dup, NM_007134.1:c.25_42dup, NM_001164529.1:c.25_42dup, NM_001164530.1:c.25_42dup, NM_001164527.1:c.25_42dup, XP_005259268.1:p.Ser9_Cys14dup, NP_009065.1:p.Ser9_Cys14dup, NP_001158001.1:p.Ser9_Cys14dup, NP_001158002.1:p.Ser9_Cys14dup, NP_001157999.1:p.Ser9_Cys14dup

Select item 145680246210.

rs1456802462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58063497 (GRCh38)
19:58574865 (GRCh37)
Canonical SPDI:: NC_000019.10:58063496:A:G
Gene:: ZNF135 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000077/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58063497A>G, NC_000019.9:g.58574865A>G, XM_006723362.5:c.212A>G, XM_006723362.4:c.212A>G, XM_006723362.3:c.212A>G, XM_006723362.2:c.212A>G, XM_006723362.1:c.212A>G, XM_006723363.4:c.212A>G, XM_006723363.3:c.212A>G, XM_006723363.2:c.212A>G, XM_006723363.1:c.212A>G, NM_003436.4:c.212A>G, NM_003436.3:c.212A>G, NM_001289402.2:c.86A>G, NM_001289402.1:c.86A>G, NM_001289401.2:c.212A>G, NM_001289401.1:c.212A>G, XM_005259211.2:c.248A>G, XM_005259211.1:c.248A>G, XM_047439363.1:c.212A>G, XM_047439364.1:c.86A>G, XM_047439362.1:c.212A>G, NM_007134.1:c.248A>G, NM_001164529.1:c.248A>G, NM_001164530.1:c.248A>G, NM_001164527.1:c.248A>G, XP_006723425.1:p.Glu71Gly, XP_006723426.1:p.Glu71Gly, NP_003427.3:p.Glu71Gly, NP_001276331.1:p.Glu29Gly, NP_001276330.1:p.Glu71Gly, XP_005259268.1:p.Glu83Gly, XP_047295319.1:p.Glu71Gly, XP_047295320.1:p.Glu29Gly, XP_047295318.1:p.Glu71Gly, NP_009065.1:p.Glu83Gly, NP_001158001.1:p.Glu83Gly, NP_001158002.1:p.Glu83Gly, NP_001157999.1:p.Glu83Gly

Select item 145122041711.

rs1451220417 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:58063755 (GRCh38)
19:58575123 (GRCh37)
Canonical SPDI:: NC_000019.10:58063754:AAA:AA
Gene:: ZNF135 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.58063757del, NC_000019.9:g.58575125del, NM_001164527.1:c.*136del

Select item 142940824912.

rs1429408249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:58063630 (GRCh38)
19:58574998 (GRCh37)
Canonical SPDI:: NC_000019.10:58063629:A:C
Gene:: ZNF135 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58063630A>C, NC_000019.9:g.58574998A>C, NM_001164527.1:c.*9A>C

Select item 142389762213.

rs1423897622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58061590 (GRCh38)
19:58572958 (GRCh37)
Canonical SPDI:: NC_000019.10:58061589:C:T
Gene:: ZNF135 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58061590C>T, NC_000019.9:g.58572958C>T, XM_006723362.5:c.44C>T, XM_006723362.4:c.44C>T, XM_006723362.3:c.44C>T, XM_006723362.2:c.44C>T, XM_006723362.1:c.44C>T, XM_006723363.4:c.44C>T, XM_006723363.3:c.44C>T, XM_006723363.2:c.44C>T, XM_006723363.1:c.44C>T, NM_003436.4:c.44C>T, NM_003436.3:c.44C>T, NM_001289402.2:c.-83C>T, NM_001289402.1:c.-83C>T, NM_001289401.2:c.44C>T, NM_001289401.1:c.44C>T, XM_005259211.2:c.80C>T, XM_005259211.1:c.80C>T, XM_047439363.1:c.44C>T, XM_047439364.1:c.-83C>T, XM_047439362.1:c.44C>T, NM_007134.1:c.80C>T, NM_001164529.1:c.80C>T, NM_001164530.1:c.80C>T, NM_001164527.1:c.80C>T, XP_006723425.1:p.Thr15Met, XP_006723426.1:p.Thr15Met, NP_003427.3:p.Thr15Met, NP_001276330.1:p.Thr15Met, XP_005259268.1:p.Thr27Met, XP_047295319.1:p.Thr15Met, XP_047295318.1:p.Thr15Met, NP_009065.1:p.Thr27Met, NP_001158001.1:p.Thr27Met, NP_001158002.1:p.Thr27Met, NP_001157999.1:p.Thr27Met

Select item 142157843414.

rs1421578434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58059310 (GRCh38)
19:58570678 (GRCh37)
Canonical SPDI:: NC_000019.10:58059309:G:A
Gene:: ZNF135 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_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.58059310G>A, NC_000019.9:g.58570678G>A, XM_006723362.5:c.-35G>A, XM_006723362.4:c.-35G>A, XM_006723362.3:c.-35G>A, XM_006723362.2:c.-35G>A, XM_006723362.1:c.-35G>A, XM_006723363.4:c.-574G>A, NM_003436.4:c.-30G>A, NM_003436.3:c.-30G>A, NM_001289402.2:c.-524G>A, NM_001289402.1:c.-524G>A, NM_001289401.2:c.-35G>A, NM_001289401.1:c.-35G>A, XM_005259211.2:c.69G>A, XM_005259211.1:c.69G>A, XM_047439363.1:c.-574G>A, XM_047439362.1:c.-30G>A, NM_007134.1:c.69G>A, NM_001164529.1:c.69G>A, NM_001164530.1:c.69G>A, NM_001164527.1:c.69G>A

Select item 141808444215.

rs1418084442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:58063853 (GRCh38)
19:58575221 (GRCh37)
Canonical SPDI:: NC_000019.10:58063852:G:A,NC_000019.10:58063852:G:T
Gene:: ZNF135 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58063853G>A, NC_000019.10:g.58063853G>T, NC_000019.9:g.58575221G>A, NC_000019.9:g.58575221G>T, NM_001164527.1:c.*232G>A, NM_001164527.1:c.*232G>T

Select item 141374347616.

rs1413743476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58063550 (GRCh38)
19:58574918 (GRCh37)
Canonical SPDI:: NC_000019.10:58063549:G:A
Gene:: ZNF135 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.58063550G>A, NC_000019.9:g.58574918G>A, NM_001164527.1:c.301G>A, NP_001157999.1:p.Gly101Arg

Select item 140235137117.

rs1402351371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58063472 (GRCh38)
19:58574840 (GRCh37)
Canonical SPDI:: NC_000019.10:58063471:A:G
Gene:: ZNF135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58063472A>G, NC_000019.9:g.58574840A>G, XM_006723362.5:c.187A>G, XM_006723362.4:c.187A>G, XM_006723362.3:c.187A>G, XM_006723362.2:c.187A>G, XM_006723362.1:c.187A>G, XM_006723363.4:c.187A>G, XM_006723363.3:c.187A>G, XM_006723363.2:c.187A>G, XM_006723363.1:c.187A>G, NM_003436.4:c.187A>G, NM_003436.3:c.187A>G, NM_001289402.2:c.61A>G, NM_001289402.1:c.61A>G, NM_001289401.2:c.187A>G, NM_001289401.1:c.187A>G, XM_005259211.2:c.223A>G, XM_005259211.1:c.223A>G, XM_047439363.1:c.187A>G, XM_047439364.1:c.61A>G, XM_047439362.1:c.187A>G, NM_007134.1:c.223A>G, NM_001164529.1:c.223A>G, NM_001164530.1:c.223A>G, NM_001164527.1:c.223A>G, XP_006723425.1:p.Ile63Val, XP_006723426.1:p.Ile63Val, NP_003427.3:p.Ile63Val, NP_001276331.1:p.Ile21Val, NP_001276330.1:p.Ile63Val, XP_005259268.1:p.Ile75Val, XP_047295319.1:p.Ile63Val, XP_047295320.1:p.Ile21Val, XP_047295318.1:p.Ile63Val, NP_009065.1:p.Ile75Val, NP_001158001.1:p.Ile75Val, NP_001158002.1:p.Ile75Val, NP_001157999.1:p.Ile75Val

Select item 139833583018.

rs1398335830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:58061686 (GRCh38)
19:58573054 (GRCh37)
Canonical SPDI:: NC_000019.10:58061685:T:G
Gene:: ZNF135 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58061686T>G, NC_000019.9:g.58573054T>G, XM_006723362.5:c.140T>G, XM_006723362.4:c.140T>G, XM_006723362.3:c.140T>G, XM_006723362.2:c.140T>G, XM_006723362.1:c.140T>G, XM_006723363.4:c.140T>G, XM_006723363.3:c.140T>G, XM_006723363.2:c.140T>G, XM_006723363.1:c.140T>G, NM_003436.4:c.140T>G, NM_003436.3:c.140T>G, NM_001289402.2:c.14T>G, NM_001289402.1:c.14T>G, NM_001289401.2:c.140T>G, NM_001289401.1:c.140T>G, XM_005259211.2:c.176T>G, XM_005259211.1:c.176T>G, XM_047439363.1:c.140T>G, XM_047439364.1:c.14T>G, XM_047439362.1:c.140T>G, NM_007134.1:c.176T>G, NM_001164529.1:c.176T>G, NM_001164530.1:c.176T>G, NM_001164527.1:c.176T>G, XP_006723425.1:p.Phe47Cys, XP_006723426.1:p.Phe47Cys, NP_003427.3:p.Phe47Cys, NP_001276331.1:p.Phe5Cys, NP_001276330.1:p.Phe47Cys, XP_005259268.1:p.Phe59Cys, XP_047295319.1:p.Phe47Cys, XP_047295320.1:p.Phe5Cys, XP_047295318.1:p.Phe47Cys, NP_009065.1:p.Phe59Cys, NP_001158001.1:p.Phe59Cys, NP_001158002.1:p.Phe59Cys, NP_001157999.1:p.Phe59Cys

Select item 139630467219.

rs1396304672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58061629 (GRCh38)
19:58572997 (GRCh37)
Canonical SPDI:: NC_000019.10:58061628:G:C
Gene:: ZNF135 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.58061629G>C, NC_000019.9:g.58572997G>C, XM_006723362.5:c.83G>C, XM_006723362.4:c.83G>C, XM_006723362.3:c.83G>C, XM_006723362.2:c.83G>C, XM_006723362.1:c.83G>C, XM_006723363.4:c.83G>C, XM_006723363.3:c.83G>C, XM_006723363.2:c.83G>C, XM_006723363.1:c.83G>C, NM_003436.4:c.83G>C, NM_003436.3:c.83G>C, NM_001289402.2:c.-44G>C, NM_001289402.1:c.-44G>C, NM_001289401.2:c.83G>C, NM_001289401.1:c.83G>C, XM_005259211.2:c.119G>C, XM_005259211.1:c.119G>C, XM_047439363.1:c.83G>C, XM_047439364.1:c.-44G>C, XM_047439362.1:c.83G>C, NM_007134.1:c.119G>C, NM_001164529.1:c.119G>C, NM_001164530.1:c.119G>C, NM_001164527.1:c.119G>C, XP_006723425.1:p.Trp28Ser, XP_006723426.1:p.Trp28Ser, NP_003427.3:p.Trp28Ser, NP_001276330.1:p.Trp28Ser, XP_005259268.1:p.Trp40Ser, XP_047295319.1:p.Trp28Ser, XP_047295318.1:p.Trp28Ser, NP_009065.1:p.Trp40Ser, NP_001158001.1:p.Trp40Ser, NP_001158002.1:p.Trp40Ser, NP_001157999.1:p.Trp40Ser

Select item 139120502920.

rs1391205029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58063695 (GRCh38)
19:58575063 (GRCh37)
Canonical SPDI:: NC_000019.10:58063694:C:T
Gene:: ZNF135 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58063695C>T, NC_000019.9:g.58575063C>T, NM_001164527.1:c.*74C>T

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