SNP Links for Protein (Select 17998698) - SNP

Links from Protein

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Select item 14915000241.

rs1491500024 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:62464882 (GRCh38)
20:61039939 (GRCh37)
Canonical SPDI:: NC_000020.11:62464882:T:TT
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62464883dup, NC_000020.10:g.61039939dup, NG_046963.1:g.16088dup, NM_080473.5:c.1147dup, NM_080473.4:c.1147dup, NW_003571063.2:g.8401dup, XM_006723699.3:c.1147dup, XM_006723699.2:c.1147dup, XM_006723699.1:c.1147dup, NP_536721.1:p.Arg383fs, XP_006723762.1:p.Arg383fs

Select item 14913312432.

rs1491331243 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:62464882 (GRCh38)
20:61039938 (GRCh37)
Canonical SPDI:: NC_000020.11:62464881:CT:
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62464882_62464883del, NC_000020.10:g.61039938_61039939del, NG_046963.1:g.16088_16089del, NM_080473.5:c.1147_1148del, NM_080473.4:c.1147_1148del, NW_003571063.2:g.8400_8401del, XM_006723699.3:c.1147_1148del, XM_006723699.2:c.1147_1148del, XM_006723699.1:c.1147_1148del, NP_536721.1:p.Arg383fs, XP_006723762.1:p.Arg383fs

Select item 14884774883.

rs1488477488 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGC>- [Show Flanks]
Chromosome:: 20:62475026 (GRCh38)
20:61050082 (GRCh37)
Canonical SPDI:: NC_000020.11:62475023:GCCGTGC:GC
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62475026_62475030del, NC_000020.10:g.61050082_61050086del, NG_046963.1:g.5943_5947del, NM_080473.5:c.494_498del, NM_080473.4:c.494_498del, NW_003571063.2:g.18544_18548del, XM_006723699.3:c.494_498del, XM_006723699.2:c.494_498del, XM_006723699.1:c.494_498del, NP_536721.1:p.His165fs, XP_006723762.1:p.His165fs

Select item 14863635464.

rs1486363546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62464970 (GRCh38)
20:61040026 (GRCh37)
Canonical SPDI:: NC_000020.11:62464969:A:G
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62464970A>G, NC_000020.10:g.61040026A>G, NG_046963.1:g.16001T>C, NM_080473.5:c.1060T>C, NM_080473.4:c.1060T>C, NW_003571063.2:g.8488A>G, XM_006723699.3:c.1060T>C, XM_006723699.2:c.1060T>C, XM_006723699.1:c.1060T>C, NP_536721.1:p.Ser354Pro, XP_006723762.1:p.Ser354Pro

Select item 14783645095.

rs1478364509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62464960 (GRCh38)
20:61040016 (GRCh37)
Canonical SPDI:: NC_000020.11:62464959:G:A
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.62464960G>A, NC_000020.10:g.61040016G>A, NG_046963.1:g.16011C>T, NM_080473.5:c.1070C>T, NM_080473.4:c.1070C>T, NW_003571063.2:g.8478G>A, XM_006723699.3:c.1070C>T, XM_006723699.2:c.1070C>T, XM_006723699.1:c.1070C>T, NP_536721.1:p.Pro357Leu, XP_006723762.1:p.Pro357Leu

Select item 14731821566.

rs1473182156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62465445 (GRCh38)
20:61040501 (GRCh37)
Canonical SPDI:: NC_000020.11:62465444:C:T
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.62465445C>T, NC_000020.10:g.61040501C>T, NG_046963.1:g.15526G>A, NM_080473.5:c.933G>A, NM_080473.4:c.933G>A, NW_003571063.2:g.8963C>T, XM_006723699.3:c.933G>A, XM_006723699.2:c.933G>A, XM_006723699.1:c.933G>A

Select item 14669324257.

rs1466932425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:62465422 (GRCh38)
20:61040478 (GRCh37)
Canonical SPDI:: NC_000020.11:62465421:C:G
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62465422C>G, NC_000020.10:g.61040478C>G, NG_046963.1:g.15549G>C, NM_080473.5:c.956G>C, NM_080473.4:c.956G>C, NW_003571063.2:g.8940C>G, XM_006723699.3:c.956G>C, XM_006723699.2:c.956G>C, XM_006723699.1:c.956G>C, NP_536721.1:p.Ser319Thr, XP_006723762.1:p.Ser319Thr

Select item 14660316148.

rs1466031614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62464944 (GRCh38)
20:61040000 (GRCh37)
Canonical SPDI:: NC_000020.11:62464943:G:C
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62464944G>C, NC_000020.10:g.61040000G>C, NG_046963.1:g.16027C>G, NM_080473.5:c.1086C>G, NM_080473.4:c.1086C>G, NW_003571063.2:g.8462G>C, XM_006723699.3:c.1086C>G, XM_006723699.2:c.1086C>G, XM_006723699.1:c.1086C>G, NP_536721.1:p.Phe362Leu, XP_006723762.1:p.Phe362Leu

Select item 14658502629.

rs1465850262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62465859 (GRCh38)
20:61040915 (GRCh37)
Canonical SPDI:: NC_000020.11:62465858:G:A
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62465859G>A, NC_000020.10:g.61040915G>A, NG_046963.1:g.15112C>T, NM_080473.5:c.888C>T, NM_080473.4:c.888C>T, NW_003571063.2:g.9377G>A, XM_006723699.3:c.888C>T, XM_006723699.2:c.888C>T, XM_006723699.1:c.888C>T

Select item 146580036410.

rs1465800364 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 20:62465851 (GRCh38)
20:61040907 (GRCh37)
Canonical SPDI:: NC_000020.11:62465850:TT:T
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62465852del, NC_000020.10:g.61040908del, NG_046963.1:g.15120del, NM_080473.5:c.896del, NM_080473.4:c.896del, NW_003571063.2:g.9370del, XM_006723699.3:c.896del, XM_006723699.2:c.896del, XM_006723699.1:c.896del, NP_536721.1:p.Lys299fs, XP_006723762.1:p.Lys299fs

Select item 145980303411.

rs1459803034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62465912 (GRCh38)
20:61040968 (GRCh37)
Canonical SPDI:: NC_000020.11:62465911:G:C
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62465912G>C, NC_000020.10:g.61040968G>C, NG_046963.1:g.15059C>G, NM_080473.5:c.835C>G, NM_080473.4:c.835C>G, NW_003571063.2:g.9430G>C, XM_006723699.3:c.835C>G, XM_006723699.2:c.835C>G, XM_006723699.1:c.835C>G, NP_536721.1:p.Pro279Ala, XP_006723762.1:p.Pro279Ala

Select item 145972778512.

rs1459727785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:62475280 (GRCh38)
20:61050336 (GRCh37)
Canonical SPDI:: NC_000020.11:62475279:T:C,NC_000020.11:62475279:T:G
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000064/9 (GnomAD)
HGVS:: NC_000020.11:g.62475280T>C, NC_000020.11:g.62475280T>G, NC_000020.10:g.61050336T>C, NC_000020.10:g.61050336T>G, NG_046963.1:g.5691A>G, NG_046963.1:g.5691A>C, NM_080473.5:c.242A>G, NM_080473.5:c.242A>C, NM_080473.4:c.242A>G, NM_080473.4:c.242A>C, NW_003571063.2:g.18798T>C, NW_003571063.2:g.18798T>G, XM_006723699.3:c.242A>G, XM_006723699.3:c.242A>C, XM_006723699.2:c.242A>G, XM_006723699.2:c.242A>C, XM_006723699.1:c.242A>G, XM_006723699.1:c.242A>C, NP_536721.1:p.His81Arg, NP_536721.1:p.His81Pro, XP_006723762.1:p.His81Arg, XP_006723762.1:p.His81Pro

Select item 145448037013.

rs1454480370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:62473543 (GRCh38)
20:61048599 (GRCh37)
Canonical SPDI:: NC_000020.11:62473542:G:T
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62473543G>T, NC_000020.10:g.61048599G>T, NG_046963.1:g.7428C>A, NM_080473.5:c.559C>A, NM_080473.4:c.559C>A, NW_003571063.2:g.17061G>T, XM_006723699.3:c.559C>A, XM_006723699.2:c.559C>A, XM_006723699.1:c.559C>A, NP_536721.1:p.Arg187Ser, XP_006723762.1:p.Arg187Ser

Select item 145216850414.

rs1452168504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62475389 (GRCh38)
20:61050445 (GRCh37)
Canonical SPDI:: NC_000020.11:62475388:A:G
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000020.11:g.62475389A>G, NC_000020.10:g.61050445A>G, NG_046963.1:g.5582T>C, NM_080473.5:c.133T>C, NM_080473.4:c.133T>C, NW_003571063.2:g.18907A>G, XM_006723699.3:c.133T>C, XM_006723699.2:c.133T>C, XM_006723699.1:c.133T>C, NP_536721.1:p.Tyr45His, XP_006723762.1:p.Tyr45His

Select item 145206209415.

rs1452062094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62466537 (GRCh38)
20:61041593 (GRCh37)
Canonical SPDI:: NC_000020.11:62466536:G:A,NC_000020.11:62466536:G:T
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62466537G>A, NC_000020.11:g.62466537G>T, NC_000020.10:g.61041593G>A, NC_000020.10:g.61041593G>T, NG_046963.1:g.14434C>T, NG_046963.1:g.14434C>A, NM_080473.5:c.714C>T, NM_080473.5:c.714C>A, NM_080473.4:c.714C>T, NM_080473.4:c.714C>A, NW_003571063.2:g.10055G>A, NW_003571063.2:g.10055G>T, XM_006723699.3:c.714C>T, XM_006723699.3:c.714C>A, XM_006723699.2:c.714C>T, XM_006723699.2:c.714C>A, XM_006723699.1:c.714C>T, XM_006723699.1:c.714C>A

Select item 145194533816.

rs1451945338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62475072 (GRCh38)
20:61050128 (GRCh37)
Canonical SPDI:: NC_000020.11:62475071:C:T
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.62475072C>T, NC_000020.10:g.61050128C>T, NG_046963.1:g.5899G>A, NM_080473.5:c.450G>A, NM_080473.4:c.450G>A, NW_003571063.2:g.18590C>T, XM_006723699.3:c.450G>A, XM_006723699.2:c.450G>A, XM_006723699.1:c.450G>A

Select item 145107973717.

rs1451079737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 20:62475465 (GRCh38)
20:61050522 (GRCh37)
Canonical SPDI:: NC_000020.11:62475465:GAG:GAGAG
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62475467_62475468dup, NC_000020.10:g.61050523_61050524dup, NG_046963.1:g.5504_5505dup, NM_080473.5:c.55_56dup, NM_080473.4:c.55_56dup, NW_003571063.2:g.18985_18986dup, XM_006723699.3:c.55_56dup, XM_006723699.2:c.55_56dup, XM_006723699.1:c.55_56dup, NP_536721.1:p.Gly20fs, XP_006723762.1:p.Gly20fs

Select item 145045566718.

rs1450455667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62475110 (GRCh38)
20:61050166 (GRCh37)
Canonical SPDI:: NC_000020.11:62475109:A:G
Gene:: GATA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.62475110A>G, NC_000020.10:g.61050166A>G, NG_046963.1:g.5861T>C, NM_080473.5:c.412T>C, NM_080473.4:c.412T>C, NW_003571063.2:g.18628A>G, XM_006723699.3:c.412T>C, XM_006723699.2:c.412T>C, XM_006723699.1:c.412T>C, NP_536721.1:p.Tyr138His, XP_006723762.1:p.Tyr138His

Select item 144815883519.

rs1448158835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62465403 (GRCh38)
20:61040459 (GRCh37)
Canonical SPDI:: NC_000020.11:62465402:G:A
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.62465403G>A, NC_000020.10:g.61040459G>A, NG_046963.1:g.15568C>T, NM_080473.5:c.975C>T, NM_080473.4:c.975C>T, NW_003571063.2:g.8921G>A, XM_006723699.3:c.975C>T, XM_006723699.2:c.975C>T, XM_006723699.1:c.975C>T

Select item 143548884620.

rs1435488846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:62475060 (GRCh38)
20:61050116 (GRCh37)
Canonical SPDI:: NC_000020.11:62475059:C:G
Gene:: GATA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62475060C>G, NC_000020.10:g.61050116C>G, NG_046963.1:g.5911G>C, NM_080473.5:c.462G>C, NM_080473.4:c.462G>C, NW_003571063.2:g.18578C>G, XM_006723699.3:c.462G>C, XM_006723699.2:c.462G>C, XM_006723699.1:c.462G>C, NP_536721.1:p.Trp154Cys, XP_006723762.1:p.Trp154Cys

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