SNP Links for Protein (Select 138175847) - SNP

Select item 14906600651.

rs1490660065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44328755 (GRCh38)
19:44832908 (GRCh37)
Canonical SPDI:: NC_000019.10:44328754:A:G
Gene:: ZNF112 (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)
HGVS:: NC_000019.10:g.44328755A>G, NC_000019.9:g.44832908A>G, NG_052954.1:g.43461T>C, NM_013380.4:c.1402T>C, NM_013380.3:c.1402T>C, NM_001083335.2:c.1420T>C, NM_001083335.1:c.1420T>C, NM_001348285.2:c.1219T>C, NM_001348285.1:c.1219T>C, NM_001348284.2:c.1219T>C, NM_001348284.1:c.1219T>C, NM_001348281.1:c.1471T>C, NM_001348281.2:c.1471T>C, NM_001348282.1:c.1402T>C, NM_001348282.2:c.1402T>C, NM_001348283.1:c.1402T>C, NP_037512.3:p.Tyr468His, NP_001076804.1:p.Tyr474His, NP_001335214.1:p.Tyr407His, NP_001335213.1:p.Tyr407His, NP_001335210.1:p.Tyr491His, NP_001335211.1:p.Tyr468His, NP_001335212.1:p.Tyr468His

Select item 14905221962.

rs1490522196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44329423 (GRCh38)
19:44833576 (GRCh37)
Canonical SPDI:: NC_000019.10:44329422:A:G
Gene:: ZNF112 (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)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44329423A>G, NC_000019.9:g.44833576A>G, NG_052954.1:g.42793T>C, NM_013380.4:c.734T>C, NM_013380.3:c.734T>C, NM_001083335.2:c.752T>C, NM_001083335.1:c.752T>C, NM_001348285.2:c.551T>C, NM_001348285.1:c.551T>C, NM_001348284.2:c.551T>C, NM_001348284.1:c.551T>C, NM_001348281.1:c.803T>C, NM_001348281.2:c.803T>C, NM_001348282.1:c.734T>C, NM_001348282.2:c.734T>C, NM_001348283.1:c.734T>C, NP_037512.3:p.Ile245Thr, NP_001076804.1:p.Ile251Thr, NP_001335214.1:p.Ile184Thr, NP_001335213.1:p.Ile184Thr, NP_001335210.1:p.Ile268Thr, NP_001335211.1:p.Ile245Thr, NP_001335212.1:p.Ile245Thr

Select item 14892307953.

rs1489230795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44327485 (GRCh38)
19:44831638 (GRCh37)
Canonical SPDI:: NC_000019.10:44327484:T:C
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44327485T>C, NC_000019.9:g.44831638T>C, NG_052954.1:g.44731A>G, NM_013380.4:c.2672A>G, NM_013380.3:c.2672A>G, NM_001083335.2:c.2690A>G, NM_001083335.1:c.2690A>G, NM_001348285.2:c.2489A>G, NM_001348285.1:c.2489A>G, NM_001348284.2:c.2489A>G, NM_001348284.1:c.2489A>G, NM_001348281.1:c.2741A>G, NM_001348281.2:c.2741A>G, NM_001348282.1:c.2672A>G, NM_001348282.2:c.2672A>G, NM_001348283.1:c.2672A>G, NP_037512.3:p.Asp891Gly, NP_001076804.1:p.Asp897Gly, NP_001335214.1:p.Asp830Gly, NP_001335213.1:p.Asp830Gly, NP_001335210.1:p.Asp914Gly, NP_001335211.1:p.Asp891Gly, NP_001335212.1:p.Asp891Gly

Select item 14872129294.

rs1487212929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:44327474 (GRCh38)
19:44831627 (GRCh37)
Canonical SPDI:: NC_000019.10:44327473:A:T
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44327474A>T, NC_000019.9:g.44831627A>T, NG_052954.1:g.44742T>A, NM_013380.4:c.2683T>A, NM_013380.3:c.2683T>A, NM_001083335.2:c.2701T>A, NM_001083335.1:c.2701T>A, NM_001348285.2:c.2500T>A, NM_001348285.1:c.2500T>A, NM_001348284.2:c.2500T>A, NM_001348284.1:c.2500T>A, NM_001348281.1:c.2752T>A, NM_001348281.2:c.2752T>A, NM_001348282.1:c.2683T>A, NM_001348282.2:c.2683T>A, NM_001348283.1:c.2683T>A, NP_037512.3:p.Ser895Thr, NP_001076804.1:p.Ser901Thr, NP_001335214.1:p.Ser834Thr, NP_001335213.1:p.Ser834Thr, NP_001335210.1:p.Ser918Thr, NP_001335211.1:p.Ser895Thr, NP_001335212.1:p.Ser895Thr

Select item 14846737725.

rs1484673772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:44329812 (GRCh38)
19:44833965 (GRCh37)
Canonical SPDI:: NC_000019.10:44329811:A:C
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44329812A>C, NC_000019.9:g.44833965A>C, NG_052954.1:g.42404T>G, NM_013380.4:c.345T>G, NM_013380.3:c.345T>G, NM_001083335.2:c.363T>G, NM_001083335.1:c.363T>G, NM_001348285.2:c.162T>G, NM_001348285.1:c.162T>G, NM_001348284.2:c.162T>G, NM_001348284.1:c.162T>G, NM_001348281.1:c.414T>G, NM_001348281.2:c.414T>G, NM_001348282.1:c.345T>G, NM_001348282.2:c.345T>G, NM_001348283.1:c.345T>G, NP_037512.3:p.Asp115Glu, NP_001076804.1:p.Asp121Glu, NP_001335214.1:p.Asp54Glu, NP_001335213.1:p.Asp54Glu, NP_001335210.1:p.Asp138Glu, NP_001335211.1:p.Asp115Glu, NP_001335212.1:p.Asp115Glu

Select item 14840413056.

rs1484041305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:44336707 (GRCh38)
19:44840860 (GRCh37)
Canonical SPDI:: NC_000019.10:44336706:A:T
Gene:: ZNF112 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44336707A>T, NC_000019.9:g.44840860A>T, NG_052954.1:g.35509T>A, NM_013380.4:c.136T>A, NM_013380.3:c.136T>A, NM_001083335.2:c.154T>A, NM_001083335.1:c.154T>A, NM_001348285.2:c.-48T>A, NM_001348285.1:c.-48T>A, NM_001348284.2:c.-48T>A, NM_001348284.1:c.-48T>A, NM_001348281.1:c.205T>A, NM_001348281.2:c.205T>A, NM_001348282.1:c.136T>A, NM_001348282.2:c.136T>A, NM_001348283.1:c.136T>A, NP_037512.3:p.Phe46Ile, NP_001076804.1:p.Phe52Ile, NP_001335210.1:p.Phe69Ile, NP_001335211.1:p.Phe46Ile, NP_001335212.1:p.Phe46Ile

Select item 14833755617.

rs1483375561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44329660 (GRCh38)
19:44833813 (GRCh37)
Canonical SPDI:: NC_000019.10:44329659:T:C
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44329660T>C, NC_000019.9:g.44833813T>C, NG_052954.1:g.42556A>G, NM_013380.4:c.497A>G, NM_013380.3:c.497A>G, NM_001083335.2:c.515A>G, NM_001083335.1:c.515A>G, NM_001348285.2:c.314A>G, NM_001348285.1:c.314A>G, NM_001348284.2:c.314A>G, NM_001348284.1:c.314A>G, NM_001348281.1:c.566A>G, NM_001348281.2:c.566A>G, NM_001348282.1:c.497A>G, NM_001348282.2:c.497A>G, NM_001348283.1:c.497A>G, NP_037512.3:p.Gln166Arg, NP_001076804.1:p.Gln172Arg, NP_001335214.1:p.Gln105Arg, NP_001335213.1:p.Gln105Arg, NP_001335210.1:p.Gln189Arg, NP_001335211.1:p.Gln166Arg, NP_001335212.1:p.Gln166Arg

Select item 14832641828.

rs1483264182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44327581 (GRCh38)
19:44831734 (GRCh37)
Canonical SPDI:: NC_000019.10:44327580:G:A
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44327581G>A, NC_000019.9:g.44831734G>A, NG_052954.1:g.44635C>T, NM_013380.4:c.2576C>T, NM_013380.3:c.2576C>T, NM_001083335.2:c.2594C>T, NM_001083335.1:c.2594C>T, NM_001348285.2:c.2393C>T, NM_001348285.1:c.2393C>T, NM_001348284.2:c.2393C>T, NM_001348284.1:c.2393C>T, NM_001348281.1:c.2645C>T, NM_001348281.2:c.2645C>T, NM_001348282.1:c.2576C>T, NM_001348282.2:c.2576C>T, NM_001348283.1:c.2576C>T, NP_037512.3:p.Ala859Val, NP_001076804.1:p.Ala865Val, NP_001335214.1:p.Ala798Val, NP_001335213.1:p.Ala798Val, NP_001335210.1:p.Ala882Val, NP_001335211.1:p.Ala859Val, NP_001335212.1:p.Ala859Val

Select item 14828270229.

rs1482827022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44329250 (GRCh38)
19:44833403 (GRCh37)
Canonical SPDI:: NC_000019.10:44329249:T:C
Gene:: ZNF112 (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)
HGVS:: NC_000019.10:g.44329250T>C, NC_000019.9:g.44833403T>C, NG_052954.1:g.42966A>G, NM_013380.4:c.907A>G, NM_013380.3:c.907A>G, NM_001083335.2:c.925A>G, NM_001083335.1:c.925A>G, NM_001348285.2:c.724A>G, NM_001348285.1:c.724A>G, NM_001348284.2:c.724A>G, NM_001348284.1:c.724A>G, NM_001348281.1:c.976A>G, NM_001348281.2:c.976A>G, NM_001348282.1:c.907A>G, NM_001348282.2:c.907A>G, NM_001348283.1:c.907A>G, NP_037512.3:p.Arg303Gly, NP_001076804.1:p.Arg309Gly, NP_001335214.1:p.Arg242Gly, NP_001335213.1:p.Arg242Gly, NP_001335210.1:p.Arg326Gly, NP_001335211.1:p.Arg303Gly, NP_001335212.1:p.Arg303Gly

Select item 148188723510.

rs1481887235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44328668 (GRCh38)
19:44832821 (GRCh37)
Canonical SPDI:: NC_000019.10:44328667:C:T
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44328668C>T, NC_000019.9:g.44832821C>T, NG_052954.1:g.43548G>A, NM_013380.4:c.1489G>A, NM_013380.3:c.1489G>A, NM_001083335.2:c.1507G>A, NM_001083335.1:c.1507G>A, NM_001348285.2:c.1306G>A, NM_001348285.1:c.1306G>A, NM_001348284.2:c.1306G>A, NM_001348284.1:c.1306G>A, NM_001348281.1:c.1558G>A, NM_001348281.2:c.1558G>A, NM_001348282.1:c.1489G>A, NM_001348282.2:c.1489G>A, NM_001348283.1:c.1489G>A, NP_037512.3:p.Gly497Arg, NP_001076804.1:p.Gly503Arg, NP_001335214.1:p.Gly436Arg, NP_001335213.1:p.Gly436Arg, NP_001335210.1:p.Gly520Arg, NP_001335211.1:p.Gly497Arg, NP_001335212.1:p.Gly497Arg

Select item 148077996411.

rs1480779964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44328675 (GRCh38)
19:44832828 (GRCh37)
Canonical SPDI:: NC_000019.10:44328674:C:T
Gene:: ZNF112 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44328675C>T, NC_000019.9:g.44832828C>T, NG_052954.1:g.43541G>A, NM_013380.4:c.1482G>A, NM_013380.3:c.1482G>A, NM_001083335.2:c.1500G>A, NM_001083335.1:c.1500G>A, NM_001348285.2:c.1299G>A, NM_001348285.1:c.1299G>A, NM_001348284.2:c.1299G>A, NM_001348284.1:c.1299G>A, NM_001348281.1:c.1551G>A, NM_001348281.2:c.1551G>A, NM_001348282.1:c.1482G>A, NM_001348282.2:c.1482G>A, NM_001348283.1:c.1482G>A

Select item 148048985012.

rs1480489850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44328489 (GRCh38)
19:44832642 (GRCh37)
Canonical SPDI:: NC_000019.10:44328488:G:C
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44328489G>C, NC_000019.9:g.44832642G>C, NG_052954.1:g.43727C>G, NM_013380.4:c.1668C>G, NM_013380.3:c.1668C>G, NM_001083335.2:c.1686C>G, NM_001083335.1:c.1686C>G, NM_001348285.2:c.1485C>G, NM_001348285.1:c.1485C>G, NM_001348284.2:c.1485C>G, NM_001348284.1:c.1485C>G, NM_001348281.1:c.1737C>G, NM_001348281.2:c.1737C>G, NM_001348282.1:c.1668C>G, NM_001348282.2:c.1668C>G, NM_001348283.1:c.1668C>G, NP_037512.3:p.Phe556Leu, NP_001076804.1:p.Phe562Leu, NP_001335214.1:p.Phe495Leu, NP_001335213.1:p.Phe495Leu, NP_001335210.1:p.Phe579Leu, NP_001335211.1:p.Phe556Leu, NP_001335212.1:p.Phe556Leu

Select item 147983719013.

rs1479837190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:44329681 (GRCh38)
19:44833834 (GRCh37)
Canonical SPDI:: NC_000019.10:44329680:C:A,NC_000019.10:44329680:C:G
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000048/12 (GnomAD_exomes)
A=0.000117/31 (TOPMED)
HGVS:: NC_000019.10:g.44329681C>A, NC_000019.10:g.44329681C>G, NC_000019.9:g.44833834C>A, NC_000019.9:g.44833834C>G, NG_052954.1:g.42535G>T, NG_052954.1:g.42535G>C, NM_013380.4:c.476G>T, NM_013380.4:c.476G>C, NM_013380.3:c.476G>T, NM_013380.3:c.476G>C, NM_001083335.2:c.494G>T, NM_001083335.2:c.494G>C, NM_001083335.1:c.494G>T, NM_001083335.1:c.494G>C, NM_001348285.2:c.293G>T, NM_001348285.2:c.293G>C, NM_001348285.1:c.293G>T, NM_001348285.1:c.293G>C, NM_001348284.2:c.293G>T, NM_001348284.2:c.293G>C, NM_001348284.1:c.293G>T, NM_001348284.1:c.293G>C, NM_001348281.1:c.545G>T, NM_001348281.1:c.545G>C, NM_001348281.2:c.545G>T, NM_001348281.2:c.545G>C, NM_001348282.1:c.476G>T, NM_001348282.1:c.476G>C, NM_001348282.2:c.476G>T, NM_001348282.2:c.476G>C, NM_001348283.1:c.476G>T, NM_001348283.1:c.476G>C, NP_037512.3:p.Gly159Val, NP_037512.3:p.Gly159Ala, NP_001076804.1:p.Gly165Val, NP_001076804.1:p.Gly165Ala, NP_001335214.1:p.Gly98Val, NP_001335214.1:p.Gly98Ala, NP_001335213.1:p.Gly98Val, NP_001335213.1:p.Gly98Ala, NP_001335210.1:p.Gly182Val, NP_001335210.1:p.Gly182Ala, NP_001335211.1:p.Gly159Val, NP_001335211.1:p.Gly159Ala, NP_001335212.1:p.Gly159Val, NP_001335212.1:p.Gly159Ala

Select item 147916949414.

rs1479169494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44328404 (GRCh38)
19:44832557 (GRCh37)
Canonical SPDI:: NC_000019.10:44328403:T:C
Gene:: ZNF112 (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)
HGVS:: NC_000019.10:g.44328404T>C, NC_000019.9:g.44832557T>C, NG_052954.1:g.43812A>G, NM_013380.4:c.1753A>G, NM_013380.3:c.1753A>G, NM_001083335.2:c.1771A>G, NM_001083335.1:c.1771A>G, NM_001348285.2:c.1570A>G, NM_001348285.1:c.1570A>G, NM_001348284.2:c.1570A>G, NM_001348284.1:c.1570A>G, NM_001348281.1:c.1822A>G, NM_001348281.2:c.1822A>G, NM_001348282.1:c.1753A>G, NM_001348282.2:c.1753A>G, NM_001348283.1:c.1753A>G, NP_037512.3:p.Ser585Gly, NP_001076804.1:p.Ser591Gly, NP_001335214.1:p.Ser524Gly, NP_001335213.1:p.Ser524Gly, NP_001335210.1:p.Ser608Gly, NP_001335211.1:p.Ser585Gly, NP_001335212.1:p.Ser585Gly

Select item 147751539315.

rs1477515393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44327871 (GRCh38)
19:44832024 (GRCh37)
Canonical SPDI:: NC_000019.10:44327870:C:T
Gene:: ZNF112 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44327871C>T, NC_000019.9:g.44832024C>T, NG_052954.1:g.44345G>A, NM_013380.4:c.2286G>A, NM_013380.3:c.2286G>A, NM_001083335.2:c.2304G>A, NM_001083335.1:c.2304G>A, NM_001348285.2:c.2103G>A, NM_001348285.1:c.2103G>A, NM_001348284.2:c.2103G>A, NM_001348284.1:c.2103G>A, NM_001348281.1:c.2355G>A, NM_001348281.2:c.2355G>A, NM_001348282.1:c.2286G>A, NM_001348282.2:c.2286G>A, NM_001348283.1:c.2286G>A

Select item 147663936816.

rs1476639368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44328604 (GRCh38)
19:44832757 (GRCh37)
Canonical SPDI:: NC_000019.10:44328603:G:T
Gene:: ZNF112 (Varview)
Functional Consequence:: 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.44328604G>T, NC_000019.9:g.44832757G>T, NG_052954.1:g.43612C>A, NM_013380.4:c.1553C>A, NM_013380.3:c.1553C>A, NM_001083335.2:c.1571C>A, NM_001083335.1:c.1571C>A, NM_001348285.2:c.1370C>A, NM_001348285.1:c.1370C>A, NM_001348284.2:c.1370C>A, NM_001348284.1:c.1370C>A, NM_001348281.1:c.1622C>A, NM_001348281.2:c.1622C>A, NM_001348282.1:c.1553C>A, NM_001348282.2:c.1553C>A, NM_001348283.1:c.1553C>A, NP_037512.3:p.Pro518Gln, NP_001076804.1:p.Pro524Gln, NP_001335214.1:p.Pro457Gln, NP_001335213.1:p.Pro457Gln, NP_001335210.1:p.Pro541Gln, NP_001335211.1:p.Pro518Gln, NP_001335212.1:p.Pro518Gln

Select item 147377726017.

rs1473777260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44329526 (GRCh38)
19:44833679 (GRCh37)
Canonical SPDI:: NC_000019.10:44329525:A:G
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44329526A>G, NC_000019.9:g.44833679A>G, NG_052954.1:g.42690T>C, NM_013380.4:c.631T>C, NM_013380.3:c.631T>C, NM_001083335.2:c.649T>C, NM_001083335.1:c.649T>C, NM_001348285.2:c.448T>C, NM_001348285.1:c.448T>C, NM_001348284.2:c.448T>C, NM_001348284.1:c.448T>C, NM_001348281.1:c.700T>C, NM_001348281.2:c.700T>C, NM_001348282.1:c.631T>C, NM_001348282.2:c.631T>C, NM_001348283.1:c.631T>C, NP_037512.3:p.Ser211Pro, NP_001076804.1:p.Ser217Pro, NP_001335214.1:p.Ser150Pro, NP_001335213.1:p.Ser150Pro, NP_001335210.1:p.Ser234Pro, NP_001335211.1:p.Ser211Pro, NP_001335212.1:p.Ser211Pro

Select item 147345864718.

rs1473458647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44340508 (GRCh38)
19:44844660 (GRCh37)
Canonical SPDI:: NC_000019.10:44340507:A:G
Gene:: ZNF112 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44340508A>G, NC_000019.9:g.44844660A>G, NG_052954.1:g.31708T>C, NM_013380.4:c.32T>C, NM_013380.3:c.32T>C, NM_001083335.2:c.50T>C, NM_001083335.1:c.50T>C, NM_001348285.2:c.-148T>C, NM_001348285.1:c.-148T>C, NM_001348281.1:c.101T>C, NM_001348281.2:c.101T>C, NM_001348282.1:c.32T>C, NM_001348282.2:c.32T>C, NM_001348283.1:c.32T>C, NP_037512.3:p.Phe11Ser, NP_001076804.1:p.Phe17Ser, NP_001335210.1:p.Phe34Ser, NP_001335211.1:p.Phe11Ser, NP_001335212.1:p.Phe11Ser

Select item 147255352519.

rs1472553525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44328797 (GRCh38)
19:44832950 (GRCh37)
Canonical SPDI:: NC_000019.10:44328796:C:T
Gene:: ZNF112 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44328797C>T, NC_000019.9:g.44832950C>T, NG_052954.1:g.43419G>A, NM_013380.4:c.1360G>A, NM_013380.3:c.1360G>A, NM_001083335.2:c.1378G>A, NM_001083335.1:c.1378G>A, NM_001348285.2:c.1177G>A, NM_001348285.1:c.1177G>A, NM_001348284.2:c.1177G>A, NM_001348284.1:c.1177G>A, NM_001348281.1:c.1429G>A, NM_001348281.2:c.1429G>A, NM_001348282.1:c.1360G>A, NM_001348282.2:c.1360G>A, NM_001348283.1:c.1360G>A, NP_037512.3:p.Asp454Asn, NP_001076804.1:p.Asp460Asn, NP_001335214.1:p.Asp393Asn, NP_001335213.1:p.Asp393Asn, NP_001335210.1:p.Asp477Asn, NP_001335211.1:p.Asp454Asn, NP_001335212.1:p.Asp454Asn

Select item 147209967420.

rs1472099674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44328327 (GRCh38)
19:44832480 (GRCh37)
Canonical SPDI:: NC_000019.10:44328326:C:T
Gene:: ZNF112 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.44328327C>T, NC_000019.9:g.44832480C>T, NG_052954.1:g.43889G>A, NM_013380.4:c.1830G>A, NM_013380.3:c.1830G>A, NM_001083335.2:c.1848G>A, NM_001083335.1:c.1848G>A, NM_001348285.2:c.1647G>A, NM_001348285.1:c.1647G>A, NM_001348284.2:c.1647G>A, NM_001348284.1:c.1647G>A, NM_001348281.1:c.1899G>A, NM_001348281.2:c.1899G>A, NM_001348282.1:c.1830G>A, NM_001348282.2:c.1830G>A, NM_001348283.1:c.1830G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 837

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 837

Page of 42

Page of 42

Display Settings:

Supplemental Content

Find related data

Recent activity