SNP Links for Protein (Select 30425380) - SNP

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Links from Protein

Items: 1 to 20 of 170

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Select item 14769871741.

rs1476987174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58160720 (GRCh38)
20:56735776 (GRCh37)
Canonical SPDI:: NC_000020.11:58160719:A:G
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.58160720A>G, NC_000020.10:g.56735776A>G, NM_178456.3:c.312A>G, NM_178456.2:c.312A>G

Select item 14745658052.

rs1474565805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58160793 (GRCh38)
20:56735849 (GRCh37)
Canonical SPDI:: NC_000020.11:58160792:C:T
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58160793C>T, NC_000020.10:g.56735849C>T, NM_178456.3:c.385C>T, NM_178456.2:c.385C>T

Select item 14744333783.

rs1474433378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58150991 (GRCh38)
20:56726047 (GRCh37)
Canonical SPDI:: NC_000020.11:58150990:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58150991G>A, NC_000020.10:g.56726047G>A, NM_178456.3:c.27G>A, NM_178456.2:c.27G>A

Select item 14690924994.

rs1469092499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58153574 (GRCh38)
20:56728630 (GRCh37)
Canonical SPDI:: NC_000020.11:58153573:A:G
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58153574A>G, NC_000020.10:g.56728630A>G, NM_178456.3:c.99A>G, NM_178456.2:c.99A>G

Select item 14560942685.

rs1456094268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:58160815 (GRCh38)
20:56735871 (GRCh37)
Canonical SPDI:: NC_000020.11:58160814:T:C,NC_000020.11:58160814:T:G
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.58160815T>C, NC_000020.11:g.58160815T>G, NC_000020.10:g.56735871T>C, NC_000020.10:g.56735871T>G, NM_178456.3:c.407T>C, NM_178456.3:c.407T>G, NM_178456.2:c.407T>C, NM_178456.2:c.407T>G, NP_848551.1:p.Val136Ala, NP_848551.1:p.Val136Gly

Select item 14517804276.

rs1451780427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:58160804 (GRCh38)
20:56735860 (GRCh37)
Canonical SPDI:: NC_000020.11:58160803:C:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58160804C>A, NC_000020.10:g.56735860C>A, NM_178456.3:c.396C>A, NM_178456.2:c.396C>A

Select item 14467367717.

rs1446736771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:58160756 (GRCh38)
20:56735812 (GRCh37)
Canonical SPDI:: NC_000020.11:58160755:T:C,NC_000020.11:58160755:T:G
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.58160756T>C, NC_000020.11:g.58160756T>G, NC_000020.10:g.56735812T>C, NC_000020.10:g.56735812T>G, NM_178456.3:c.348T>C, NM_178456.3:c.348T>G, NM_178456.2:c.348T>C, NM_178456.2:c.348T>G, NP_848551.1:p.Asp116Glu

Select item 14375542848.

rs1437554284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:58153577 (GRCh38)
20:56728633 (GRCh37)
Canonical SPDI:: NC_000020.11:58153576:G:C
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58153577G>C, NC_000020.10:g.56728633G>C, NM_178456.3:c.102G>C, NM_178456.2:c.102G>C

Select item 14360930109.

rs1436093010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58155531 (GRCh38)
20:56730587 (GRCh37)
Canonical SPDI:: NC_000020.11:58155530:C:T
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000020.11:g.58155531C>T, NC_000020.10:g.56730587C>T, NM_178456.3:c.214C>T, NM_178456.2:c.214C>T, NP_848551.1:p.Arg72Cys

Select item 143187641210.

rs1431876412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58160723 (GRCh38)
20:56735779 (GRCh37)
Canonical SPDI:: NC_000020.11:58160722:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58160723G>A, NC_000020.10:g.56735779G>A, NM_178456.3:c.315G>A, NM_178456.2:c.315G>A

Select item 142338963911.

rs1423389639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58155560 (GRCh38)
20:56730616 (GRCh37)
Canonical SPDI:: NC_000020.11:58155559:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.58155560G>A, NC_000020.10:g.56730616G>A, NM_178456.3:c.243G>A, NM_178456.2:c.243G>A

Select item 141590905412.

rs1415909054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:58150968 (GRCh38)
20:56726024 (GRCh37)
Canonical SPDI:: NC_000020.11:58150967:G:T
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000020.11:g.58150968G>T, NC_000020.10:g.56726024G>T, NM_178456.3:c.4G>T, NM_178456.2:c.4G>T, NP_848551.1:p.Ala2Ser

Select item 141216367413.

rs1412163674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58160697 (GRCh38)
20:56735753 (GRCh37)
Canonical SPDI:: NC_000020.11:58160696:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58160697G>A, NC_000020.10:g.56735753G>A, NM_178456.3:c.289G>A, NM_178456.2:c.289G>A, NP_848551.1:p.Gly97Ser

Select item 141183572914.

rs1411835729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58150998 (GRCh38)
20:56726054 (GRCh37)
Canonical SPDI:: NC_000020.11:58150997:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58150998G>A, NC_000020.10:g.56726054G>A, NM_178456.3:c.34G>A, NM_178456.2:c.34G>A, NP_848551.1:p.Glu12Lys

Select item 139117779115.

rs1391177791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:58160803 (GRCh38)
20:56735859 (GRCh37)
Canonical SPDI:: NC_000020.11:58160802:C:G,NC_000020.11:58160802:C:T
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58160803C>G, NC_000020.11:g.58160803C>T, NC_000020.10:g.56735859C>G, NC_000020.10:g.56735859C>T, NM_178456.3:c.395C>G, NM_178456.3:c.395C>T, NM_178456.2:c.395C>G, NM_178456.2:c.395C>T, NP_848551.1:p.Pro132Arg, NP_848551.1:p.Pro132Leu

Select item 138971401216.

rs1389714012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58153600 (GRCh38)
20:56728656 (GRCh37)
Canonical SPDI:: NC_000020.11:58153599:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.58153600G>A, NC_000020.10:g.56728656G>A, NM_178456.3:c.125G>A, NM_178456.2:c.125G>A, NP_848551.1:p.Gly42Glu

Select item 138896399017.

rs1388963990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:58150980 (GRCh38)
20:56726036 (GRCh37)
Canonical SPDI:: NC_000020.11:58150979:C:G
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58150980C>G, NC_000020.10:g.56726036C>G, NM_178456.3:c.16C>G, NM_178456.2:c.16C>G, NP_848551.1:p.Leu6Val

Select item 137633060018.

rs1376330600 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:58160801 (GRCh38)
20:56735858 (GRCh37)
Canonical SPDI:: NC_000020.11:58160801:CCC:CCCC
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58160804dup, NC_000020.10:g.56735860dup, NM_178456.3:c.396dup, NM_178456.2:c.396dup, NP_848551.1:p.Lys133fs

Select item 137506934919.

rs1375069349 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:58153596 (GRCh38)
20:56728653 (GRCh37)
Canonical SPDI:: NC_000020.11:58153596:GGGGG:GGGGGG
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58153601dup, NC_000020.10:g.56728657dup, NM_178456.3:c.126dup, NM_178456.2:c.126dup, NP_848551.1:p.Phe43fs

Select item 137373603520.

rs1373736035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58151017 (GRCh38)
20:56726073 (GRCh37)
Canonical SPDI:: NC_000020.11:58151016:G:A
Gene:: C20orf85 (Varview), LOC107985434 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58151017G>A, NC_000020.10:g.56726073G>A, NM_178456.3:c.53G>A, NM_178456.2:c.53G>A, NP_848551.1:p.Gly18Asp