SNP Links for Protein (Select 1050767378) - SNP

Links from Protein

Items: 1 to 20 of 147

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Select item 14905301641.

rs1490530164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21960554 (GRCh38)
19:22143356 (GRCh37)
Canonical SPDI:: NC_000019.10:21960553:C:T
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21960554C>T, NC_000019.9:g.22143356C>T, NM_001329973.1:c.*110G>A, NM_001329972.1:c.457G>A, NP_001316901.1:p.Val153Met

Select item 14719535182.

rs1471953518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:21960778 (GRCh38)
19:22143580 (GRCh37)
Canonical SPDI:: NC_000019.10:21960777:T:A,NC_000019.10:21960777:T:C
Gene:: ZNF208 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000468/3 (1000Genomes)
HGVS:: NC_000019.10:g.21960778T>A, NC_000019.10:g.21960778T>C, NC_000019.9:g.22143580T>A, NC_000019.9:g.22143580T>C, NM_001329973.1:c.312A>T, NM_001329973.1:c.312A>G, NM_001329972.1:c.233A>T, NM_001329972.1:c.233A>G, NP_001316902.1:p.Arg104Ser, NP_001316901.1:p.Glu78Val, NP_001316901.1:p.Glu78Gly

Select item 14699704643.

rs1469970464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21988888 (GRCh38)
19:22171690 (GRCh37)
Canonical SPDI:: NC_000019.10:21988887:C:G
Gene:: ZNF208 (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.21988888C>G, NC_000019.9:g.22171690C>G, NM_007153.3:c.25G>C, NM_001329971.2:c.25G>C, NM_001329971.1:c.25G>C, NM_001329974.2:c.25G>C, NM_001329974.1:c.25G>C, NR_138252.2:n.268G>C, NR_138252.1:n.268G>C, NM_001329973.1:c.25G>C, NM_001329972.1:c.25G>C, NP_009084.2:p.Val9Leu, NP_001316900.1:p.Val9Leu, NP_001316903.1:p.Val9Leu, NP_001316902.1:p.Val9Leu, NP_001316901.1:p.Val9Leu

Select item 14684228164.

rs1468422816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:21988890 (GRCh38)
19:22171692 (GRCh37)
Canonical SPDI:: NC_000019.10:21988889:T:A
Gene:: ZNF208 (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.21988890T>A, NC_000019.9:g.22171692T>A, NM_007153.3:c.23A>T, NM_001329971.2:c.23A>T, NM_001329971.1:c.23A>T, NM_001329974.2:c.23A>T, NM_001329974.1:c.23A>T, NR_138252.2:n.266A>T, NR_138252.1:n.266A>T, NM_001329973.1:c.23A>T, NM_001329972.1:c.23A>T, NP_009084.2:p.Asp8Val, NP_001316900.1:p.Asp8Val, NP_001316903.1:p.Asp8Val, NP_001316902.1:p.Asp8Val, NP_001316901.1:p.Asp8Val

Select item 14684158695.

rs1468415869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21960536 (GRCh38)
19:22143338 (GRCh37)
Canonical SPDI:: NC_000019.10:21960535:T:C
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21960536T>C, NC_000019.9:g.22143338T>C, NM_001329973.1:c.*128A>G, NM_001329972.1:c.475A>G, NP_001316901.1:p.Arg159Gly

Select item 14591500196.

rs1459150019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21987276 (GRCh38)
19:22170078 (GRCh37)
Canonical SPDI:: NC_000019.10:21987275:G:A
Gene:: ZNF208 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.21987276G>A, NC_000019.9:g.22170078G>A, NM_007153.3:c.166C>T, NM_001329971.2:c.166C>T, NM_001329971.1:c.166C>T, NM_001329974.2:c.166C>T, NM_001329974.1:c.166C>T, NR_138252.2:n.409C>T, NR_138252.1:n.409C>T, NM_001329973.1:c.166C>T, NM_001329972.1:c.166C>T

Select item 14530052317.

rs1453005231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21988785 (GRCh38)
19:22171587 (GRCh37)
Canonical SPDI:: NC_000019.10:21988784:A:G
Gene:: ZNF208 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21988785A>G, NC_000019.9:g.22171587A>G, NM_007153.3:c.128T>C, NM_001329971.2:c.128T>C, NM_001329971.1:c.128T>C, NM_001329974.2:c.128T>C, NM_001329974.1:c.128T>C, NR_138252.2:n.371T>C, NR_138252.1:n.371T>C, NM_001329973.1:c.128T>C, NM_001329972.1:c.128T>C, NP_009084.2:p.Leu43Pro, NP_001316900.1:p.Leu43Pro, NP_001316903.1:p.Leu43Pro, NP_001316902.1:p.Leu43Pro, NP_001316901.1:p.Leu43Pro

Select item 14517135548.

rs1451713554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21988906 (GRCh38)
19:22171708 (GRCh37)
Canonical SPDI:: NC_000019.10:21988905:A:G
Gene:: ZNF208 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.00004/5 (GnomAD)
G=0.002729/5 (Korea1K)
G=0.030929/874 (TOMMO)
G=0.044191/283 (1000Genomes)
HGVS:: NC_000019.10:g.21988906A>G, NC_000019.9:g.22171708A>G, NM_007153.3:c.7T>C, NM_001329971.2:c.7T>C, NM_001329971.1:c.7T>C, NM_001329974.2:c.7T>C, NM_001329974.1:c.7T>C, NR_138252.2:n.250T>C, NR_138252.1:n.250T>C, NM_001329973.1:c.7T>C, NM_001329972.1:c.7T>C, NP_009084.2:p.Ser3Pro, NP_001316900.1:p.Ser3Pro, NP_001316903.1:p.Ser3Pro, NP_001316902.1:p.Ser3Pro, NP_001316901.1:p.Ser3Pro

Select item 14481499749.

rs1448149974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21988901 (GRCh38)
19:22171703 (GRCh37)
Canonical SPDI:: NC_000019.10:21988900:C:T
Gene:: ZNF208 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21988901C>T, NC_000019.9:g.22171703C>T, NM_007153.3:c.12G>A, NM_001329971.2:c.12G>A, NM_001329971.1:c.12G>A, NM_001329974.2:c.12G>A, NM_001329974.1:c.12G>A, NR_138252.2:n.255G>A, NR_138252.1:n.255G>A, NM_001329973.1:c.12G>A, NM_001329972.1:c.12G>A

Select item 144744532110.

rs1447445321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:21960733 (GRCh38)
19:22143535 (GRCh37)
Canonical SPDI:: NC_000019.10:21960732:T:C,NC_000019.10:21960732:T:G
Gene:: ZNF208 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000264/4 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.21960733T>C, NC_000019.10:g.21960733T>G, NC_000019.9:g.22143535T>C, NC_000019.9:g.22143535T>G, NM_001329973.1:c.357A>G, NM_001329973.1:c.357A>C, NM_001329972.1:c.278A>G, NM_001329972.1:c.278A>C, NP_001316901.1:p.Gln93Arg, NP_001316901.1:p.Gln93Pro

Select item 143675363811.

rs1436753638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:21960734 (GRCh38)
19:22143536 (GRCh37)
Canonical SPDI:: NC_000019.10:21960733:G:T
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21960734G>T, NC_000019.9:g.22143536G>T, NM_001329973.1:c.356C>A, NM_001329972.1:c.277C>A, NP_001316902.1:p.Ala119Glu, NP_001316901.1:p.Gln93Lys

Select item 143192402812.

rs1431924028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21960667 (GRCh38)
19:22143469 (GRCh37)
Canonical SPDI:: NC_000019.10:21960666:A:G
Gene:: ZNF208 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000086/12 (GnomAD)
G=0.000151/40 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.21960667A>G, NC_000019.9:g.22143469A>G, NM_001329973.1:c.423T>C, NM_001329972.1:c.344T>C, NP_001316901.1:p.Leu115Pro

Select item 142798134713.

rs1427981347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21987229 (GRCh38)
19:22170031 (GRCh37)
Canonical SPDI:: NC_000019.10:21987228:C:T
Gene:: ZNF208 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21987229C>T, NC_000019.9:g.22170031C>T, NM_007153.3:c.213G>A, NM_001329971.2:c.213G>A, NM_001329971.1:c.213G>A, NM_001329974.2:c.213G>A, NM_001329974.1:c.213G>A, NR_138252.2:n.456G>A, NR_138252.1:n.456G>A, NM_001329973.1:c.213G>A, NM_001329972.1:c.213G>A

Select item 142718636514.

rs1427186365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21960606 (GRCh38)
19:22143408 (GRCh37)
Canonical SPDI:: NC_000019.10:21960605:C:T
Gene:: ZNF208 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.21960606C>T, NC_000019.9:g.22143408C>T, NM_001329973.1:c.*58G>A, NM_001329972.1:c.405G>A

Select item 142714412815.

rs1427144128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21960693 (GRCh38)
19:22143495 (GRCh37)
Canonical SPDI:: NC_000019.10:21960692:T:C
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.21960693T>C, NC_000019.9:g.22143495T>C, NM_001329973.1:c.397A>G, NM_001329972.1:c.318A>G, NP_001316902.1:p.Thr133Ala, NP_001316901.1:p.Ile106Met

Select item 142343088416.

rs1423430884 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:21960527 (GRCh38)
19:22143329 (GRCh37)
Canonical SPDI:: NC_000019.10:21960526:AAAAA:AAAA
Gene:: ZNF208 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.21960531del, NC_000019.9:g.22143333del, NM_001329973.1:c.*137del, NM_001329972.1:c.484del, NP_001316901.1:p.Ser162fs

Select item 140946029217.

rs1409460292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:21960752 (GRCh38)
19:22143554 (GRCh37)
Canonical SPDI:: NC_000019.10:21960751:A:T
Gene:: ZNF208 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.21960752A>T, NC_000019.9:g.22143554A>T, NM_001329973.1:c.338T>A, NM_001329972.1:c.259T>A, NP_001316902.1:p.Val113Glu, NP_001316901.1:p.Trp87Arg

Select item 140387751218.

rs1403877512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:21960584 (GRCh38)
19:22143386 (GRCh37)
Canonical SPDI:: NC_000019.10:21960583:C:A,NC_000019.10:21960583:C:G
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.21960584C>A, NC_000019.10:g.21960584C>G, NC_000019.9:g.22143386C>A, NC_000019.9:g.22143386C>G, NM_001329973.1:c.*80G>T, NM_001329973.1:c.*80G>C, NM_001329972.1:c.427G>T, NM_001329972.1:c.427G>C, NP_001316901.1:p.Glu143Ter, NP_001316901.1:p.Glu143Gln

Select item 140354524919.

rs1403545249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21960673 (GRCh38)
19:22143475 (GRCh37)
Canonical SPDI:: NC_000019.10:21960672:T:C
Gene:: ZNF208 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21960673T>C, NC_000019.9:g.22143475T>C, NM_001329973.1:c.417A>G, NM_001329972.1:c.338A>G, NP_001316901.1:p.Asp113Gly

Select item 140009415220.

rs1400094152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:21988858 (GRCh38)
19:22171660 (GRCh37)
Canonical SPDI:: NC_000019.10:21988857:G:C
Gene:: ZNF208 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21988858G>C, NC_000019.9:g.22171660G>C, NM_007153.3:c.55C>G, NM_001329971.2:c.55C>G, NM_001329971.1:c.55C>G, NM_001329974.2:c.55C>G, NM_001329974.1:c.55C>G, NR_138252.2:n.298C>G, NR_138252.1:n.298C>G, NM_001329973.1:c.55C>G, NM_001329972.1:c.55C>G, NP_009084.2:p.Gln19Glu, NP_001316900.1:p.Gln19Glu, NP_001316903.1:p.Gln19Glu, NP_001316902.1:p.Gln19Glu, NP_001316901.1:p.Gln19Glu

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