SNP Links for Protein (Select 20270245) - SNP

Links from Protein

Items: 1 to 20 of 562

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Select item 14902822651.

rs1490282265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143276061 (GRCh38)
8:144358231 (GRCh37)
Canonical SPDI:: NC_000008.11:143276060:C:T
Gene:: GLI4 (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_000008.11:g.143276061C>T, NC_000008.10:g.144358231C>T, NM_138465.4:c.388C>T, NM_138465.3:c.388C>T, NP_612474.1:p.Pro130Ser

Select item 14883737582.

rs1488373758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143276793 (GRCh38)
8:144358963 (GRCh37)
Canonical SPDI:: NC_000008.11:143276792:T:C
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000008.11:g.143276793T>C, NC_000008.10:g.144358963T>C, NM_138465.4:c.1120T>C, NM_138465.3:c.1120T>C, NP_612474.1:p.Tyr374His

Select item 14874587883.

rs1487458788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGCGCCCGAG [Show Flanks]
Chromosome:: 8:143276134 (GRCh38)
8:144358305 (GRCh37)
Canonical SPDI:: NC_000008.11:143276134:GCCCGAGGGTGCGCCCGAG:GCCCGAGGGTGCGCCCGAGGGTGCGCCCGAG
Gene:: GLI4 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCGAGGGTGCGCCCGAGGGTGCGCCCGAG=0./0 (ALFA)
GCCCGAGGGTGC=0.000015/2 (GnomAD_exomes)
GCCCGAGGGTGC=0.000128/18 (GnomAD)
GCCCGAGGGTGC=0.000468/3 (1000Genomes)
HGVS:: NC_000008.11:g.143276142_143276153dup, NC_000008.10:g.144358312_144358323dup, NM_138465.4:c.469_480dup, NM_138465.3:c.469_480dup, NP_612474.1:p.Gly157_Glu160dup

Select item 14864146664.

rs1486414666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143276329 (GRCh38)
8:144358499 (GRCh37)
Canonical SPDI:: NC_000008.11:143276328:G:A
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276329G>A, NC_000008.10:g.144358499G>A, NM_138465.4:c.656G>A, NM_138465.3:c.656G>A, NP_612474.1:p.Arg219His

Select item 14835815315.

rs1483581531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143276701 (GRCh38)
8:144358871 (GRCh37)
Canonical SPDI:: NC_000008.11:143276700:G:C
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143276701G>C, NC_000008.10:g.144358871G>C, NM_138465.4:c.1028G>C, NM_138465.3:c.1028G>C, NP_612474.1:p.Arg343Pro

Select item 14823974246.

rs1482397424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143276749 (GRCh38)
8:144358919 (GRCh37)
Canonical SPDI:: NC_000008.11:143276748:C:T
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276749C>T, NC_000008.10:g.144358919C>T, NM_138465.4:c.1076C>T, NM_138465.3:c.1076C>T, NP_612474.1:p.Ala359Val

Select item 14816199097.

rs1481619909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143276226 (GRCh38)
8:144358396 (GRCh37)
Canonical SPDI:: NC_000008.11:143276225:T:C
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276226T>C, NC_000008.10:g.144358396T>C, NM_138465.4:c.553T>C, NM_138465.3:c.553T>C, NP_612474.1:p.Cys185Arg

Select item 14813694888.

rs1481369488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143275985 (GRCh38)
8:144358155 (GRCh37)
Canonical SPDI:: NC_000008.11:143275984:G:A
Gene:: GLI4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000022/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143275985G>A, NC_000008.10:g.144358155G>A, NM_138465.4:c.312G>A, NM_138465.3:c.312G>A

Select item 14801731729.

rs1480173172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143269403 (GRCh38)
8:144351573 (GRCh37)
Canonical SPDI:: NC_000008.11:143269402:G:A
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143269403G>A, NC_000008.10:g.144351573G>A, NM_138465.4:c.7G>A, NM_138465.3:c.7G>A, NP_612474.1:p.Ala3Thr

Select item 147953873610.

rs1479538736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:143276364 (GRCh38)
8:144358534 (GRCh37)
Canonical SPDI:: NC_000008.11:143276363:C:A
Gene:: GLI4 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143276364C>A, NC_000008.10:g.144358534C>A, NM_138465.4:c.691C>A, NM_138465.3:c.691C>A, NP_612474.1:p.Arg231Ser

Select item 147940853611.

rs1479408536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143274769 (GRCh38)
8:144356939 (GRCh37)
Canonical SPDI:: NC_000008.11:143274768:G:C
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.143274769G>C, NC_000008.10:g.144356939G>C, NM_138465.4:c.190G>C, NM_138465.3:c.190G>C, NP_612474.1:p.Glu64Gln

Select item 147843064512.

rs1478430645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143269448 (GRCh38)
8:144351618 (GRCh37)
Canonical SPDI:: NC_000008.11:143269447:A:T
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143269448A>T, NC_000008.10:g.144351618A>T, NM_138465.4:c.52A>T, NM_138465.3:c.52A>T, NP_612474.1:p.Ser18Cys

Select item 147394819713.

rs1473948197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143269493 (GRCh38)
8:144351663 (GRCh37)
Canonical SPDI:: NC_000008.11:143269492:C:T
Gene:: GLI4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143269493C>T, NC_000008.10:g.144351663C>T, NM_138465.4:c.97C>T, NM_138465.3:c.97C>T, NP_612474.1:p.Gln33Ter

Select item 147384545714.

rs1473845457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143276706 (GRCh38)
8:144358876 (GRCh37)
Canonical SPDI:: NC_000008.11:143276705:C:G
Gene:: GLI4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276706C>G, NC_000008.10:g.144358876C>G, NM_138465.4:c.1033C>G, NM_138465.3:c.1033C>G, NP_612474.1:p.His345Asp

Select item 147329631615.

rs1473296316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143276021 (GRCh38)
8:144358191 (GRCh37)
Canonical SPDI:: NC_000008.11:143276020:C:T
Gene:: GLI4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.143276021C>T, NC_000008.10:g.144358191C>T, NM_138465.4:c.348C>T, NM_138465.3:c.348C>T

Select item 147182208716.

rs1471822087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143276710 (GRCh38)
8:144358880 (GRCh37)
Canonical SPDI:: NC_000008.11:143276709:C:G
Gene:: GLI4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276710C>G, NC_000008.10:g.144358880C>G, NM_138465.4:c.1037C>G, NM_138465.3:c.1037C>G, NP_612474.1:p.Thr346Arg

Select item 147105934117.

rs1471059341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:143276418 (GRCh38)
8:144358588 (GRCh37)
Canonical SPDI:: NC_000008.11:143276417:A:C
Gene:: GLI4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143276418A>C, NC_000008.10:g.144358588A>C, NM_138465.4:c.745A>C, NM_138465.3:c.745A>C, NP_612474.1:p.Ser249Arg

Select item 147079504818.

rs1470795048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143275909 (GRCh38)
8:144358079 (GRCh37)
Canonical SPDI:: NC_000008.11:143275908:A:G
Gene:: GLI4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.143275909A>G, NC_000008.10:g.144358079A>G, NM_138465.4:c.236A>G, NM_138465.3:c.236A>G, NP_612474.1:p.Lys79Arg

Select item 146996982219.

rs1469969822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143276200 (GRCh38)
8:144358370 (GRCh37)
Canonical SPDI:: NC_000008.11:143276199:G:A
Gene:: GLI4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.143276200G>A, NC_000008.10:g.144358370G>A, NM_138465.4:c.527G>A, NM_138465.3:c.527G>A, NP_612474.1:p.Ser176Asn

Select item 146572683220.

rs1465726832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143269406 (GRCh38)
8:144351576 (GRCh37)
Canonical SPDI:: NC_000008.11:143269405:C:G,NC_000008.11:143269405:C:T
Gene:: GLI4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143269406C>G, NC_000008.11:g.143269406C>T, NC_000008.10:g.144351576C>G, NC_000008.10:g.144351576C>T, NM_138465.4:c.10C>G, NM_138465.4:c.10C>T, NM_138465.3:c.10C>G, NM_138465.3:c.10C>T, NP_612474.1:p.Leu4Val

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