SNP Links for Protein (Select 767981327) - SNP

Links from Protein

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Select item 14907220851.

rs1490722085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21103230 (GRCh38)
14:21571389 (GRCh37)
Canonical SPDI:: NC_000014.9:21103229:A:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.21103230A>G, NC_000014.8:g.21571389A>G, NG_053108.1:g.6493T>C, XM_011537078.3:c.626A>G, XM_011537078.2:c.626A>G, XM_011537078.1:c.626A>G, XM_011537079.3:c.626A>G, XM_011537079.2:c.626A>G, XM_011537079.1:c.626A>G, XM_011537083.3:c.515A>G, XM_011537083.2:c.515A>G, XM_011537083.1:c.515A>G, XM_011537084.3:c.479A>G, XM_011537084.2:c.479A>G, XM_011537084.1:c.479A>G, XM_011537085.3:c.404A>G, XM_011537085.2:c.404A>G, XM_011537085.1:c.404A>G, NM_001146683.2:c.626A>G, NM_001146683.1:c.626A>G, XM_047431456.1:c.-2590T>C, XM_047431455.1:c.-211T>C, NM_001395465.1:c.341A>G, NM_001395464.1:c.515A>G, NM_001395466.1:c.341A>G, NM_001395467.1:c.626A>G, NR_172562.1:n.742A>G, XM_047431689.1:c.368A>G, XP_011535380.1:p.Gln209Arg, XP_011535381.1:p.Gln209Arg, XP_011535385.1:p.Gln172Arg, XP_011535386.1:p.Gln160Arg, XP_011535387.1:p.Gln135Arg, NP_001140155.1:p.Gln209Arg, NP_001382394.1:p.Gln114Arg, NP_001382393.1:p.Gln172Arg, NP_001382395.1:p.Gln114Arg, NP_001382396.1:p.Gln209Arg, XP_047287645.1:p.Gln123Arg

Select item 14898719962.

rs1489871996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21103187 (GRCh38)
14:21571346 (GRCh37)
Canonical SPDI:: NC_000014.9:21103186:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.21103187G>T, NC_000014.8:g.21571346G>T, NG_053108.1:g.6536C>A, XM_011537078.3:c.583G>T, XM_011537078.2:c.583G>T, XM_011537078.1:c.583G>T, XM_011537079.3:c.583G>T, XM_011537079.2:c.583G>T, XM_011537079.1:c.583G>T, XM_011537083.3:c.472G>T, XM_011537083.2:c.472G>T, XM_011537083.1:c.472G>T, XM_011537084.3:c.436G>T, XM_011537084.2:c.436G>T, XM_011537084.1:c.436G>T, XM_011537085.3:c.361G>T, XM_011537085.2:c.361G>T, XM_011537085.1:c.361G>T, NM_001146683.2:c.583G>T, NM_001146683.1:c.583G>T, XM_047431456.1:c.-2547C>A, XM_047431455.1:c.-168C>A, NM_001395465.1:c.298G>T, NM_001395464.1:c.472G>T, NM_001395466.1:c.298G>T, NM_001395467.1:c.583G>T, NR_172562.1:n.699G>T, XM_047431689.1:c.325G>T, XP_011535380.1:p.Val195Leu, XP_011535381.1:p.Val195Leu, XP_011535385.1:p.Val158Leu, XP_011535386.1:p.Val146Leu, XP_011535387.1:p.Val121Leu, NP_001140155.1:p.Val195Leu, NP_001382394.1:p.Val100Leu, NP_001382393.1:p.Val158Leu, NP_001382395.1:p.Val100Leu, NP_001382396.1:p.Val195Leu, XP_047287645.1:p.Val109Leu

Select item 14850935993.

rs1485093599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21102645 (GRCh38)
14:21570804 (GRCh37)
Canonical SPDI:: NC_000014.9:21102644:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102645C>T, NC_000014.8:g.21570804C>T, NG_053108.1:g.7078G>A, XM_011537078.3:c.400C>T, XM_011537078.2:c.400C>T, XM_011537078.1:c.400C>T, XM_011537079.3:c.400C>T, XM_011537079.2:c.400C>T, XM_011537079.1:c.400C>T, XM_011537083.3:c.289C>T, XM_011537083.2:c.289C>T, XM_011537083.1:c.289C>T, XM_011537085.3:c.178C>T, XM_011537085.2:c.178C>T, XM_011537085.1:c.178C>T, NM_001146683.2:c.400C>T, NM_001146683.1:c.400C>T, XM_047431456.1:c.-2005G>A, NM_001395465.1:c.115C>T, NM_001395464.1:c.289C>T, NM_001395466.1:c.115C>T, NM_001395467.1:c.400C>T, NR_172562.1:n.516C>T

Select item 14844564254.

rs1484456425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21102714 (GRCh38)
14:21570873 (GRCh37)
Canonical SPDI:: NC_000014.9:21102713:T:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102714T>C, NC_000014.8:g.21570873T>C, NG_053108.1:g.7009A>G, XM_011537078.3:c.469T>C, XM_011537078.2:c.469T>C, XM_011537078.1:c.469T>C, XM_011537079.3:c.469T>C, XM_011537079.2:c.469T>C, XM_011537079.1:c.469T>C, XM_011537083.3:c.358T>C, XM_011537083.2:c.358T>C, XM_011537083.1:c.358T>C, XM_011537085.3:c.247T>C, XM_011537085.2:c.247T>C, XM_011537085.1:c.247T>C, NM_001146683.2:c.469T>C, NM_001146683.1:c.469T>C, XM_047431456.1:c.-2074A>G, NM_001395465.1:c.184T>C, NM_001395464.1:c.358T>C, NM_001395466.1:c.184T>C, NM_001395467.1:c.469T>C, NR_172562.1:n.585T>C

Select item 14812942965.

rs1481294296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21103141 (GRCh38)
14:21571300 (GRCh37)
Canonical SPDI:: NC_000014.9:21103140:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21103141C>T, NC_000014.8:g.21571300C>T, NG_053108.1:g.6582G>A, XM_011537078.3:c.537C>T, XM_011537078.2:c.537C>T, XM_011537078.1:c.537C>T, XM_011537079.3:c.537C>T, XM_011537079.2:c.537C>T, XM_011537079.1:c.537C>T, XM_011537083.3:c.426C>T, XM_011537083.2:c.426C>T, XM_011537083.1:c.426C>T, XM_011537084.3:c.390C>T, XM_011537084.2:c.390C>T, XM_011537084.1:c.390C>T, XM_011537085.3:c.315C>T, XM_011537085.2:c.315C>T, XM_011537085.1:c.315C>T, NM_001146683.2:c.537C>T, NM_001146683.1:c.537C>T, XM_047431456.1:c.-2501G>A, XM_047431455.1:c.-122G>A, NM_001395465.1:c.252C>T, NM_001395464.1:c.426C>T, NM_001395466.1:c.252C>T, NM_001395467.1:c.537C>T, NR_172562.1:n.653C>T, XM_047431689.1:c.279C>T

Select item 14780486716.

rs1478048671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21103236 (GRCh38)
14:21571395 (GRCh37)
Canonical SPDI:: NC_000014.9:21103235:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21103236G>A, NC_000014.8:g.21571395G>A, NG_053108.1:g.6487C>T, XM_011537078.3:c.632G>A, XM_011537078.2:c.632G>A, XM_011537078.1:c.632G>A, XM_011537079.3:c.632G>A, XM_011537079.2:c.632G>A, XM_011537079.1:c.632G>A, XM_011537083.3:c.521G>A, XM_011537083.2:c.521G>A, XM_011537083.1:c.521G>A, XM_011537084.3:c.485G>A, XM_011537084.2:c.485G>A, XM_011537084.1:c.485G>A, XM_011537085.3:c.410G>A, XM_011537085.2:c.410G>A, XM_011537085.1:c.410G>A, NM_001146683.2:c.632G>A, NM_001146683.1:c.632G>A, XM_047431456.1:c.-2596C>T, XM_047431455.1:c.-217C>T, NM_001395465.1:c.347G>A, NM_001395464.1:c.521G>A, NM_001395466.1:c.347G>A, NM_001395467.1:c.632G>A, NR_172562.1:n.748G>A, XM_047431689.1:c.374G>A, XP_011535380.1:p.Arg211His, XP_011535381.1:p.Arg211His, XP_011535385.1:p.Arg174His, XP_011535386.1:p.Arg162His, XP_011535387.1:p.Arg137His, NP_001140155.1:p.Arg211His, NP_001382394.1:p.Arg116His, NP_001382393.1:p.Arg174His, NP_001382395.1:p.Arg116His, NP_001382396.1:p.Arg211His, XP_047287645.1:p.Arg125His

Select item 14660325697.

rs1466032569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21103172 (GRCh38)
14:21571331 (GRCh37)
Canonical SPDI:: NC_000014.9:21103171:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21103172G>A, NC_000014.8:g.21571331G>A, NG_053108.1:g.6551C>T, XM_011537078.3:c.568G>A, XM_011537078.2:c.568G>A, XM_011537078.1:c.568G>A, XM_011537079.3:c.568G>A, XM_011537079.2:c.568G>A, XM_011537079.1:c.568G>A, XM_011537083.3:c.457G>A, XM_011537083.2:c.457G>A, XM_011537083.1:c.457G>A, XM_011537084.3:c.421G>A, XM_011537084.2:c.421G>A, XM_011537084.1:c.421G>A, XM_011537085.3:c.346G>A, XM_011537085.2:c.346G>A, XM_011537085.1:c.346G>A, NM_001146683.2:c.568G>A, NM_001146683.1:c.568G>A, XM_047431456.1:c.-2532C>T, XM_047431455.1:c.-153C>T, NM_001395465.1:c.283G>A, NM_001395464.1:c.457G>A, NM_001395466.1:c.283G>A, NM_001395467.1:c.568G>A, NR_172562.1:n.684G>A, XM_047431689.1:c.310G>A, XP_011535380.1:p.Glu190Lys, XP_011535381.1:p.Glu190Lys, XP_011535385.1:p.Glu153Lys, XP_011535386.1:p.Glu141Lys, XP_011535387.1:p.Glu116Lys, NP_001140155.1:p.Glu190Lys, NP_001382394.1:p.Glu95Lys, NP_001382393.1:p.Glu153Lys, NP_001382395.1:p.Glu95Lys, NP_001382396.1:p.Glu190Lys, XP_047287645.1:p.Glu104Lys

Select item 14617025638.

rs1461702563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:21102064 (GRCh38)
14:21570223 (GRCh37)
Canonical SPDI:: NC_000014.9:21102063:G:A,NC_000014.9:21102063:G:C
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21102064G>A, NC_000014.9:g.21102064G>C, NC_000014.8:g.21570223G>A, NC_000014.8:g.21570223G>C, NG_053108.1:g.7659C>T, NG_053108.1:g.7659C>G, XM_011537078.3:c.220G>A, XM_011537078.3:c.220G>C, XM_011537078.2:c.220G>A, XM_011537078.2:c.220G>C, XM_011537078.1:c.220G>A, XM_011537078.1:c.220G>C, XM_011537079.3:c.220G>A, XM_011537079.3:c.220G>C, XM_011537079.2:c.220G>A, XM_011537079.2:c.220G>C, XM_011537079.1:c.220G>A, XM_011537079.1:c.220G>C, XM_011537083.3:c.220G>A, XM_011537083.3:c.220G>C, XM_011537083.2:c.220G>A, XM_011537083.2:c.220G>C, XM_011537083.1:c.220G>A, XM_011537083.1:c.220G>C, XM_011537084.3:c.220G>A, XM_011537084.3:c.220G>C, XM_011537084.2:c.220G>A, XM_011537084.2:c.220G>C, XM_011537084.1:c.220G>A, XM_011537084.1:c.220G>C, XM_011537085.3:c.109G>A, XM_011537085.3:c.109G>C, XM_011537085.2:c.109G>A, XM_011537085.2:c.109G>C, XM_011537085.1:c.109G>A, XM_011537085.1:c.109G>C, NM_001146683.2:c.220G>A, NM_001146683.2:c.220G>C, NM_001146683.1:c.220G>A, NM_001146683.1:c.220G>C, XM_047431456.1:c.-1424C>T, XM_047431456.1:c.-1424C>G, NM_001395465.1:c.-138G>A, NM_001395465.1:c.-138G>C, NM_001395464.1:c.109G>A, NM_001395464.1:c.109G>C, NM_001395466.1:c.-138G>A, NM_001395466.1:c.-138G>C, NM_001395467.1:c.220G>A, NM_001395467.1:c.220G>C, NR_172562.1:n.375G>A, NR_172562.1:n.375G>C, XM_047431689.1:c.109G>A, XM_047431689.1:c.109G>C, XP_011535380.1:p.Gly74Ser, XP_011535380.1:p.Gly74Arg, XP_011535381.1:p.Gly74Ser, XP_011535381.1:p.Gly74Arg, XP_011535385.1:p.Gly74Ser, XP_011535385.1:p.Gly74Arg, XP_011535386.1:p.Gly74Ser, XP_011535386.1:p.Gly74Arg, XP_011535387.1:p.Gly37Ser, XP_011535387.1:p.Gly37Arg, NP_001140155.1:p.Gly74Ser, NP_001140155.1:p.Gly74Arg, NP_001382393.1:p.Gly37Ser, NP_001382393.1:p.Gly37Arg, NP_001382396.1:p.Gly74Ser, NP_001382396.1:p.Gly74Arg, XP_047287645.1:p.Gly37Ser, XP_047287645.1:p.Gly37Arg

Select item 14615871509.

rs1461587150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21103197 (GRCh38)
14:21571356 (GRCh37)
Canonical SPDI:: NC_000014.9:21103196:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21103197C>T, NC_000014.8:g.21571356C>T, NG_053108.1:g.6526G>A, XM_011537078.3:c.593C>T, XM_011537078.2:c.593C>T, XM_011537078.1:c.593C>T, XM_011537079.3:c.593C>T, XM_011537079.2:c.593C>T, XM_011537079.1:c.593C>T, XM_011537083.3:c.482C>T, XM_011537083.2:c.482C>T, XM_011537083.1:c.482C>T, XM_011537084.3:c.446C>T, XM_011537084.2:c.446C>T, XM_011537084.1:c.446C>T, XM_011537085.3:c.371C>T, XM_011537085.2:c.371C>T, XM_011537085.1:c.371C>T, NM_001146683.2:c.593C>T, NM_001146683.1:c.593C>T, XM_047431456.1:c.-2557G>A, XM_047431455.1:c.-178G>A, NM_001395465.1:c.308C>T, NM_001395464.1:c.482C>T, NM_001395466.1:c.308C>T, NM_001395467.1:c.593C>T, NR_172562.1:n.709C>T, XM_047431689.1:c.335C>T, XP_011535380.1:p.Thr198Ile, XP_011535381.1:p.Thr198Ile, XP_011535385.1:p.Thr161Ile, XP_011535386.1:p.Thr149Ile, XP_011535387.1:p.Thr124Ile, NP_001140155.1:p.Thr198Ile, NP_001382394.1:p.Thr103Ile, NP_001382393.1:p.Thr161Ile, NP_001382395.1:p.Thr103Ile, NP_001382396.1:p.Thr198Ile, XP_047287645.1:p.Thr112Ile

Select item 146048355310.

rs1460483553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:21102728 (GRCh38)
14:21570888 (GRCh37)
Canonical SPDI:: NC_000014.9:21102728:AAA:AAAA
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000013/2 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.21102731dup, NC_000014.8:g.21570890dup, NG_053108.1:g.6994dup, XM_011537078.3:c.486dup, XM_011537078.2:c.486dup, XM_011537078.1:c.486dup, XM_011537079.3:c.486dup, XM_011537079.2:c.486dup, XM_011537079.1:c.486dup, XM_011537083.3:c.375dup, XM_011537083.2:c.375dup, XM_011537083.1:c.375dup, XM_011537085.3:c.264dup, XM_011537085.2:c.264dup, XM_011537085.1:c.264dup, NM_001146683.2:c.486dup, NM_001146683.1:c.486dup, XM_047431456.1:c.-2089dup, NM_001395465.1:c.201dup, NM_001395464.1:c.375dup, NM_001395466.1:c.201dup, NM_001395467.1:c.486dup, NR_172562.1:n.602dup, XP_011535380.1:p.Pro163fs, XP_011535381.1:p.Pro163fs, XP_011535385.1:p.Pro126fs, XP_011535387.1:p.Pro89fs, NP_001140155.1:p.Pro163fs, NP_001382394.1:p.Pro68fs, NP_001382393.1:p.Pro126fs, NP_001382395.1:p.Pro68fs, NP_001382396.1:p.Pro163fs

Select item 145398556911.

rs1453985569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21102721 (GRCh38)
14:21570880 (GRCh37)
Canonical SPDI:: NC_000014.9:21102720:G:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.21102721G>A, NC_000014.8:g.21570880G>A, NG_053108.1:g.7002C>T, XM_011537078.3:c.476G>A, XM_011537078.2:c.476G>A, XM_011537078.1:c.476G>A, XM_011537079.3:c.476G>A, XM_011537079.2:c.476G>A, XM_011537079.1:c.476G>A, XM_011537083.3:c.365G>A, XM_011537083.2:c.365G>A, XM_011537083.1:c.365G>A, XM_011537085.3:c.254G>A, XM_011537085.2:c.254G>A, XM_011537085.1:c.254G>A, NM_001146683.2:c.476G>A, NM_001146683.1:c.476G>A, XM_047431456.1:c.-2081C>T, NM_001395465.1:c.191G>A, NM_001395464.1:c.365G>A, NM_001395466.1:c.191G>A, NM_001395467.1:c.476G>A, NR_172562.1:n.592G>A, XP_011535380.1:p.Ser159Asn, XP_011535381.1:p.Ser159Asn, XP_011535385.1:p.Ser122Asn, XP_011535387.1:p.Ser85Asn, NP_001140155.1:p.Ser159Asn, NP_001382394.1:p.Ser64Asn, NP_001382393.1:p.Ser122Asn, NP_001382395.1:p.Ser64Asn, NP_001382396.1:p.Ser159Asn

Select item 145134601312.

rs1451346013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21102682 (GRCh38)
14:21570841 (GRCh37)
Canonical SPDI:: NC_000014.9:21102681:G:A,NC_000014.9:21102681:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.21102682G>A, NC_000014.9:g.21102682G>T, NC_000014.8:g.21570841G>A, NC_000014.8:g.21570841G>T, NG_053108.1:g.7041C>T, NG_053108.1:g.7041C>A, XM_011537078.3:c.437G>A, XM_011537078.3:c.437G>T, XM_011537078.2:c.437G>A, XM_011537078.2:c.437G>T, XM_011537078.1:c.437G>A, XM_011537078.1:c.437G>T, XM_011537079.3:c.437G>A, XM_011537079.3:c.437G>T, XM_011537079.2:c.437G>A, XM_011537079.2:c.437G>T, XM_011537079.1:c.437G>A, XM_011537079.1:c.437G>T, XM_011537083.3:c.326G>A, XM_011537083.3:c.326G>T, XM_011537083.2:c.326G>A, XM_011537083.2:c.326G>T, XM_011537083.1:c.326G>A, XM_011537083.1:c.326G>T, XM_011537085.3:c.215G>A, XM_011537085.3:c.215G>T, XM_011537085.2:c.215G>A, XM_011537085.2:c.215G>T, XM_011537085.1:c.215G>A, XM_011537085.1:c.215G>T, NM_001146683.2:c.437G>A, NM_001146683.2:c.437G>T, NM_001146683.1:c.437G>A, NM_001146683.1:c.437G>T, XM_047431456.1:c.-2042C>T, XM_047431456.1:c.-2042C>A, NM_001395465.1:c.152G>A, NM_001395465.1:c.152G>T, NM_001395464.1:c.326G>A, NM_001395464.1:c.326G>T, NM_001395466.1:c.152G>A, NM_001395466.1:c.152G>T, NM_001395467.1:c.437G>A, NM_001395467.1:c.437G>T, NR_172562.1:n.553G>A, NR_172562.1:n.553G>T, XP_011535380.1:p.Gly146Glu, XP_011535380.1:p.Gly146Val, XP_011535381.1:p.Gly146Glu, XP_011535381.1:p.Gly146Val, XP_011535385.1:p.Gly109Glu, XP_011535385.1:p.Gly109Val, XP_011535387.1:p.Gly72Glu, XP_011535387.1:p.Gly72Val, NP_001140155.1:p.Gly146Glu, NP_001140155.1:p.Gly146Val, NP_001382394.1:p.Gly51Glu, NP_001382394.1:p.Gly51Val, NP_001382393.1:p.Gly109Glu, NP_001382393.1:p.Gly109Val, NP_001382395.1:p.Gly51Glu, NP_001382395.1:p.Gly51Val, NP_001382396.1:p.Gly146Glu, NP_001382396.1:p.Gly146Val

Select item 144618673413.

rs1446186734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21102086 (GRCh38)
14:21570245 (GRCh37)
Canonical SPDI:: NC_000014.9:21102085:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102086C>T, NC_000014.8:g.21570245C>T, NG_053108.1:g.7637G>A, XM_011537078.3:c.242C>T, XM_011537078.2:c.242C>T, XM_011537078.1:c.242C>T, XM_011537079.3:c.242C>T, XM_011537079.2:c.242C>T, XM_011537079.1:c.242C>T, XM_011537083.3:c.242C>T, XM_011537083.2:c.242C>T, XM_011537083.1:c.242C>T, XM_011537084.3:c.242C>T, XM_011537084.2:c.242C>T, XM_011537084.1:c.242C>T, XM_011537085.3:c.131C>T, XM_011537085.2:c.131C>T, XM_011537085.1:c.131C>T, NM_001146683.2:c.242C>T, NM_001146683.1:c.242C>T, XM_047431456.1:c.-1446G>A, NM_001395465.1:c.-116C>T, NM_001395464.1:c.131C>T, NM_001395466.1:c.-116C>T, NM_001395467.1:c.242C>T, NR_172562.1:n.397C>T, XM_047431689.1:c.131C>T, XP_011535380.1:p.Thr81Ile, XP_011535381.1:p.Thr81Ile, XP_011535385.1:p.Thr81Ile, XP_011535386.1:p.Thr81Ile, XP_011535387.1:p.Thr44Ile, NP_001140155.1:p.Thr81Ile, NP_001382393.1:p.Thr44Ile, NP_001382396.1:p.Thr81Ile, XP_047287645.1:p.Thr44Ile

Select item 144586300414.

rs1445863004 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:21102741 (GRCh38)
14:21570900 (GRCh37)
Canonical SPDI:: NC_000014.9:21102740:T:
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.21102741del, NC_000014.8:g.21570900del, NG_053108.1:g.6982del, XM_011537078.3:c.496del, XM_011537078.2:c.496del, XM_011537078.1:c.496del, XM_011537079.3:c.496del, XM_011537079.2:c.496del, XM_011537079.1:c.496del, XM_011537083.3:c.385del, XM_011537083.2:c.385del, XM_011537083.1:c.385del, XM_011537085.3:c.274del, XM_011537085.2:c.274del, XM_011537085.1:c.274del, NM_001146683.2:c.496del, NM_001146683.1:c.496del, XM_047431456.1:c.-2101del, NM_001395465.1:c.211del, NM_001395464.1:c.385del, NM_001395466.1:c.211del, NM_001395467.1:c.496del, NR_172562.1:n.612del, XP_011535380.1:p.Cys166fs, XP_011535381.1:p.Cys166fs, XP_011535385.1:p.Cys129fs, XP_011535387.1:p.Cys92fs, NP_001140155.1:p.Cys166fs, NP_001382394.1:p.Cys71fs, NP_001382393.1:p.Cys129fs, NP_001382395.1:p.Cys71fs, NP_001382396.1:p.Cys166fs

Select item 144353562515.

rs1443535625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:21102676 (GRCh38)
14:21570835 (GRCh37)
Canonical SPDI:: NC_000014.9:21102675:C:G,NC_000014.9:21102675:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21102676C>G, NC_000014.9:g.21102676C>T, NC_000014.8:g.21570835C>G, NC_000014.8:g.21570835C>T, NG_053108.1:g.7047G>C, NG_053108.1:g.7047G>A, XM_011537078.3:c.431C>G, XM_011537078.3:c.431C>T, XM_011537078.2:c.431C>G, XM_011537078.2:c.431C>T, XM_011537078.1:c.431C>G, XM_011537078.1:c.431C>T, XM_011537079.3:c.431C>G, XM_011537079.3:c.431C>T, XM_011537079.2:c.431C>G, XM_011537079.2:c.431C>T, XM_011537079.1:c.431C>G, XM_011537079.1:c.431C>T, XM_011537083.3:c.320C>G, XM_011537083.3:c.320C>T, XM_011537083.2:c.320C>G, XM_011537083.2:c.320C>T, XM_011537083.1:c.320C>G, XM_011537083.1:c.320C>T, XM_011537085.3:c.209C>G, XM_011537085.3:c.209C>T, XM_011537085.2:c.209C>G, XM_011537085.2:c.209C>T, XM_011537085.1:c.209C>G, XM_011537085.1:c.209C>T, NM_001146683.2:c.431C>G, NM_001146683.2:c.431C>T, NM_001146683.1:c.431C>G, NM_001146683.1:c.431C>T, XM_047431456.1:c.-2036G>C, XM_047431456.1:c.-2036G>A, NM_001395465.1:c.146C>G, NM_001395465.1:c.146C>T, NM_001395464.1:c.320C>G, NM_001395464.1:c.320C>T, NM_001395466.1:c.146C>G, NM_001395466.1:c.146C>T, NM_001395467.1:c.431C>G, NM_001395467.1:c.431C>T, NR_172562.1:n.547C>G, NR_172562.1:n.547C>T, XP_011535380.1:p.Thr144Ser, XP_011535380.1:p.Thr144Ile, XP_011535381.1:p.Thr144Ser, XP_011535381.1:p.Thr144Ile, XP_011535385.1:p.Thr107Ser, XP_011535385.1:p.Thr107Ile, XP_011535387.1:p.Thr70Ser, XP_011535387.1:p.Thr70Ile, NP_001140155.1:p.Thr144Ser, NP_001140155.1:p.Thr144Ile, NP_001382394.1:p.Thr49Ser, NP_001382394.1:p.Thr49Ile, NP_001382393.1:p.Thr107Ser, NP_001382393.1:p.Thr107Ile, NP_001382395.1:p.Thr49Ser, NP_001382395.1:p.Thr49Ile, NP_001382396.1:p.Thr144Ser, NP_001382396.1:p.Thr144Ile

Select item 144167528716.

rs1441675287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:21102109 (GRCh38)
14:21570268 (GRCh37)
Canonical SPDI:: NC_000014.9:21102108:C:A,NC_000014.9:21102108:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.21102109C>A, NC_000014.9:g.21102109C>T, NC_000014.8:g.21570268C>A, NC_000014.8:g.21570268C>T, NG_053108.1:g.7614G>T, NG_053108.1:g.7614G>A, XM_011537078.3:c.265C>A, XM_011537078.3:c.265C>T, XM_011537078.2:c.265C>A, XM_011537078.2:c.265C>T, XM_011537078.1:c.265C>A, XM_011537078.1:c.265C>T, XM_011537079.3:c.265C>A, XM_011537079.3:c.265C>T, XM_011537079.2:c.265C>A, XM_011537079.2:c.265C>T, XM_011537079.1:c.265C>A, XM_011537079.1:c.265C>T, XM_011537083.3:c.265C>A, XM_011537083.3:c.265C>T, XM_011537083.2:c.265C>A, XM_011537083.2:c.265C>T, XM_011537083.1:c.265C>A, XM_011537083.1:c.265C>T, XM_011537084.3:c.265C>A, XM_011537084.3:c.265C>T, XM_011537084.2:c.265C>A, XM_011537084.2:c.265C>T, XM_011537084.1:c.265C>A, XM_011537084.1:c.265C>T, XM_011537085.3:c.154C>A, XM_011537085.3:c.154C>T, XM_011537085.2:c.154C>A, XM_011537085.2:c.154C>T, XM_011537085.1:c.154C>A, XM_011537085.1:c.154C>T, NM_001146683.2:c.265C>A, NM_001146683.2:c.265C>T, NM_001146683.1:c.265C>A, NM_001146683.1:c.265C>T, XM_047431456.1:c.-1469G>T, XM_047431456.1:c.-1469G>A, NM_001395465.1:c.-93C>A, NM_001395465.1:c.-93C>T, NM_001395464.1:c.154C>A, NM_001395464.1:c.154C>T, NM_001395466.1:c.-93C>A, NM_001395466.1:c.-93C>T, NM_001395467.1:c.265C>A, NM_001395467.1:c.265C>T, NR_172562.1:n.420C>A, NR_172562.1:n.420C>T, XM_047431689.1:c.154C>A, XM_047431689.1:c.154C>T, XP_011535380.1:p.Arg89Ser, XP_011535380.1:p.Arg89Cys, XP_011535381.1:p.Arg89Ser, XP_011535381.1:p.Arg89Cys, XP_011535385.1:p.Arg89Ser, XP_011535385.1:p.Arg89Cys, XP_011535386.1:p.Arg89Ser, XP_011535386.1:p.Arg89Cys, XP_011535387.1:p.Arg52Ser, XP_011535387.1:p.Arg52Cys, NP_001140155.1:p.Arg89Ser, NP_001140155.1:p.Arg89Cys, NP_001382393.1:p.Arg52Ser, NP_001382393.1:p.Arg52Cys, NP_001382396.1:p.Arg89Ser, NP_001382396.1:p.Arg89Cys, XP_047287645.1:p.Arg52Ser, XP_047287645.1:p.Arg52Cys

Select item 143610619117.

rs1436106191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21103181 (GRCh38)
14:21571340 (GRCh37)
Canonical SPDI:: NC_000014.9:21103180:C:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_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_000014.9:g.21103181C>T, NC_000014.8:g.21571340C>T, NG_053108.1:g.6542G>A, XM_011537078.3:c.577C>T, XM_011537078.2:c.577C>T, XM_011537078.1:c.577C>T, XM_011537079.3:c.577C>T, XM_011537079.2:c.577C>T, XM_011537079.1:c.577C>T, XM_011537083.3:c.466C>T, XM_011537083.2:c.466C>T, XM_011537083.1:c.466C>T, XM_011537084.3:c.430C>T, XM_011537084.2:c.430C>T, XM_011537084.1:c.430C>T, XM_011537085.3:c.355C>T, XM_011537085.2:c.355C>T, XM_011537085.1:c.355C>T, NM_001146683.2:c.577C>T, NM_001146683.1:c.577C>T, XM_047431456.1:c.-2541G>A, XM_047431455.1:c.-162G>A, NM_001395465.1:c.292C>T, NM_001395464.1:c.466C>T, NM_001395466.1:c.292C>T, NM_001395467.1:c.577C>T, NR_172562.1:n.693C>T, XM_047431689.1:c.319C>T, XP_011535380.1:p.Pro193Ser, XP_011535381.1:p.Pro193Ser, XP_011535385.1:p.Pro156Ser, XP_011535386.1:p.Pro144Ser, XP_011535387.1:p.Pro119Ser, NP_001140155.1:p.Pro193Ser, NP_001382394.1:p.Pro98Ser, NP_001382393.1:p.Pro156Ser, NP_001382395.1:p.Pro98Ser, NP_001382396.1:p.Pro193Ser, XP_047287645.1:p.Pro107Ser

Select item 142835643618.

rs1428356436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21103171 (GRCh38)
14:21571330 (GRCh37)
Canonical SPDI:: NC_000014.9:21103170:G:T
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.21103171G>T, NC_000014.8:g.21571330G>T, NG_053108.1:g.6552C>A, XM_011537078.3:c.567G>T, XM_011537078.2:c.567G>T, XM_011537078.1:c.567G>T, XM_011537079.3:c.567G>T, XM_011537079.2:c.567G>T, XM_011537079.1:c.567G>T, XM_011537083.3:c.456G>T, XM_011537083.2:c.456G>T, XM_011537083.1:c.456G>T, XM_011537084.3:c.420G>T, XM_011537084.2:c.420G>T, XM_011537084.1:c.420G>T, XM_011537085.3:c.345G>T, XM_011537085.2:c.345G>T, XM_011537085.1:c.345G>T, NM_001146683.2:c.567G>T, NM_001146683.1:c.567G>T, XM_047431456.1:c.-2531C>A, XM_047431455.1:c.-152C>A, NM_001395465.1:c.282G>T, NM_001395464.1:c.456G>T, NM_001395466.1:c.282G>T, NM_001395467.1:c.567G>T, NR_172562.1:n.683G>T, XM_047431689.1:c.309G>T, XP_011535380.1:p.Leu189Phe, XP_011535381.1:p.Leu189Phe, XP_011535385.1:p.Leu152Phe, XP_011535386.1:p.Leu140Phe, XP_011535387.1:p.Leu115Phe, NP_001140155.1:p.Leu189Phe, NP_001382394.1:p.Leu94Phe, NP_001382393.1:p.Leu152Phe, NP_001382395.1:p.Leu94Phe, NP_001382396.1:p.Leu189Phe, XP_047287645.1:p.Leu103Phe

Select item 142798891319.

rs1427988913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21103252 (GRCh38)
14:21571411 (GRCh37)
Canonical SPDI:: NC_000014.9:21103251:A:G
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21103252A>G, NC_000014.8:g.21571411A>G, NG_053108.1:g.6471T>C, XM_011537078.3:c.648A>G, XM_011537078.2:c.648A>G, XM_011537078.1:c.648A>G, XM_011537079.3:c.648A>G, XM_011537079.2:c.648A>G, XM_011537079.1:c.648A>G, XM_011537083.3:c.537A>G, XM_011537083.2:c.537A>G, XM_011537083.1:c.537A>G, XM_011537084.3:c.501A>G, XM_011537084.2:c.501A>G, XM_011537084.1:c.501A>G, XM_011537085.3:c.426A>G, XM_011537085.2:c.426A>G, XM_011537085.1:c.426A>G, NM_001146683.2:c.648A>G, NM_001146683.1:c.648A>G, XM_047431456.1:c.-2612T>C, XM_047431455.1:c.-233T>C, NM_001395465.1:c.363A>G, NM_001395464.1:c.537A>G, NM_001395466.1:c.363A>G, NM_001395467.1:c.648A>G, NR_172562.1:n.764A>G, XM_047431689.1:c.390A>G

Select item 142600507820.

rs1426005078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:21102665 (GRCh38)
14:21570824 (GRCh37)
Canonical SPDI:: NC_000014.9:21102664:T:A
Gene:: ZNF219 (Varview), TMEM253 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21102665T>A, NC_000014.8:g.21570824T>A, NG_053108.1:g.7058A>T, XM_011537078.3:c.420T>A, XM_011537078.2:c.420T>A, XM_011537078.1:c.420T>A, XM_011537079.3:c.420T>A, XM_011537079.2:c.420T>A, XM_011537079.1:c.420T>A, XM_011537083.3:c.309T>A, XM_011537083.2:c.309T>A, XM_011537083.1:c.309T>A, XM_011537085.3:c.198T>A, XM_011537085.2:c.198T>A, XM_011537085.1:c.198T>A, NM_001146683.2:c.420T>A, NM_001146683.1:c.420T>A, XM_047431456.1:c.-2025A>T, NM_001395465.1:c.135T>A, NM_001395464.1:c.309T>A, NM_001395466.1:c.135T>A, NM_001395467.1:c.420T>A, NR_172562.1:n.536T>A

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