SNP Links for Protein (Select 1101010094) - SNP

Links from Protein

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Select item 14865670431.

rs1486567043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47368104 (GRCh38)
10:48371258 (GRCh37)
Canonical SPDI:: NC_000010.11:47368103:C:T
Gene:: ZNF488 (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_000010.11:g.47368104C>T, NW_003871068.1:g.1639219C>T, NC_000010.10:g.48371258G>A, XM_006717617.4:c.726G>A, XM_006717617.3:c.726G>A, XM_006717617.2:c.726G>A, XM_006717617.1:c.726G>A, NM_153034.4:c.726G>A, NM_153034.3:c.726G>A, NM_153034.2:c.726G>A, XM_011539244.3:c.726G>A, XM_011539244.2:c.726G>A, XM_011539244.1:c.726G>A, XM_017015643.2:c.726G>A, XM_017015643.1:c.726G>A, NM_001346932.2:c.726G>A, NM_001346932.1:c.726G>A, NM_001346933.2:c.726G>A, NM_001346933.1:c.726G>A, NM_001346934.2:c.726G>A, NM_001346934.1:c.726G>A, NM_001346936.2:c.726G>A, NM_001346936.1:c.726G>A, NM_001346935.2:c.726G>A, NM_001346935.1:c.726G>A, XM_047424565.1:c.726G>A

Select item 14847409052.

rs1484740905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47367990 (GRCh38)
10:48371372 (GRCh37)
Canonical SPDI:: NC_000010.11:47367989:G:A
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47367990G>A, NW_003871068.1:g.1639105G>A, NC_000010.10:g.48371372C>T, XM_006717617.4:c.840C>T, XM_006717617.3:c.840C>T, XM_006717617.2:c.840C>T, XM_006717617.1:c.840C>T, NM_153034.4:c.840C>T, NM_153034.3:c.840C>T, NM_153034.2:c.840C>T, XM_011539244.3:c.840C>T, XM_011539244.2:c.840C>T, XM_011539244.1:c.840C>T, XM_017015643.2:c.840C>T, XM_017015643.1:c.840C>T, NM_001346932.2:c.840C>T, NM_001346932.1:c.840C>T, NM_001346933.2:c.840C>T, NM_001346933.1:c.840C>T, NM_001346934.2:c.840C>T, NM_001346934.1:c.840C>T, NM_001346936.2:c.840C>T, NM_001346936.1:c.840C>T, NM_001346935.2:c.840C>T, NM_001346935.1:c.840C>T, XM_047424565.1:c.840C>T

Select item 14813926313.

rs1481392631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47367836 (GRCh38)
10:48371526 (GRCh37)
Canonical SPDI:: NC_000010.11:47367835:G:A
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.47367836G>A, NW_003871068.1:g.1638951G>A, NC_000010.10:g.48371526C>T, XM_006717617.4:c.994C>T, XM_006717617.3:c.994C>T, XM_006717617.2:c.994C>T, XM_006717617.1:c.994C>T, NM_153034.4:c.994C>T, NM_153034.3:c.994C>T, NM_153034.2:c.994C>T, XM_011539244.3:c.994C>T, XM_011539244.2:c.994C>T, XM_011539244.1:c.994C>T, XM_017015643.2:c.994C>T, XM_017015643.1:c.994C>T, NM_001346932.2:c.994C>T, NM_001346932.1:c.994C>T, NM_001346933.2:c.994C>T, NM_001346933.1:c.994C>T, NM_001346934.2:c.994C>T, NM_001346934.1:c.994C>T, NM_001346936.2:c.994C>T, NM_001346936.1:c.994C>T, NM_001346935.2:c.994C>T, NM_001346935.1:c.994C>T, XM_047424565.1:c.994C>T, XP_006717680.1:p.Leu332Phe, NP_694579.1:p.Leu332Phe, XP_011537546.1:p.Leu332Phe, XP_016871132.1:p.Leu332Phe, NP_001333861.1:p.Leu332Phe, NP_001333862.1:p.Leu332Phe, NP_001333863.1:p.Leu332Phe, NP_001333865.1:p.Leu332Phe, NP_001333864.1:p.Leu332Phe, XP_047280521.1:p.Leu332Phe

Select item 14708676634.

rs1470867663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47368642 (GRCh38)
10:48370720 (GRCh37)
Canonical SPDI:: NC_000010.11:47368641:C:T
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.47368642C>T, NW_003871068.1:g.1639757C>T, NC_000010.10:g.48370720G>A, XM_006717617.4:c.188G>A, XM_006717617.3:c.188G>A, XM_006717617.2:c.188G>A, XM_006717617.1:c.188G>A, NM_153034.4:c.188G>A, NM_153034.3:c.188G>A, NM_153034.2:c.188G>A, XM_011539244.3:c.188G>A, XM_011539244.2:c.188G>A, XM_011539244.1:c.188G>A, XM_017015643.2:c.188G>A, XM_017015643.1:c.188G>A, NM_001346932.2:c.188G>A, NM_001346932.1:c.188G>A, NM_001346933.2:c.188G>A, NM_001346933.1:c.188G>A, NM_001346934.2:c.188G>A, NM_001346934.1:c.188G>A, NM_001346936.2:c.188G>A, NM_001346936.1:c.188G>A, NM_001346935.2:c.188G>A, NM_001346935.1:c.188G>A, XM_047424565.1:c.188G>A, XP_006717680.1:p.Gly63Asp, NP_694579.1:p.Gly63Asp, XP_011537546.1:p.Gly63Asp, XP_016871132.1:p.Gly63Asp, NP_001333861.1:p.Gly63Asp, NP_001333862.1:p.Gly63Asp, NP_001333863.1:p.Gly63Asp, NP_001333865.1:p.Gly63Asp, NP_001333864.1:p.Gly63Asp, XP_047280521.1:p.Gly63Asp

Select item 14688210875.

rs1468821087 has merged into rs782420326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:47368666 (GRCh38)
10:48370694 (GRCh37)
Canonical SPDI:: NC_000010.11:47368666:GG:GGG
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000204/6 (ALFA)
C=0./0 (TWINSUK)
G=0.000053/14 (TOPMED)
C=0.00008/1 (GoESP)
G=0.000093/13 (GnomAD)
C=0.000117/29 (GnomAD_exomes)
C=0.000118/14 (ExAC)
C=0.000259/1 (ALSPAC)
HGVS:: NC_000010.11:g.47368668dup, NW_003871068.1:g.1639783dup, NC_000010.10:g.48370695dup, XM_006717617.4:c.163dup, XM_006717617.3:c.163dup, XM_006717617.2:c.163dup, XM_006717617.1:c.163dup, NM_153034.4:c.163dup, NM_153034.3:c.163dup, NM_153034.2:c.163dup, XM_011539244.3:c.163dup, XM_011539244.2:c.163dup, XM_011539244.1:c.163dup, XM_017015643.2:c.163dup, XM_017015643.1:c.163dup, NM_001346932.2:c.163dup, NM_001346932.1:c.163dup, NM_001346933.2:c.163dup, NM_001346933.1:c.163dup, NM_001346934.2:c.163dup, NM_001346934.1:c.163dup, NM_001346936.2:c.163dup, NM_001346936.1:c.163dup, NM_001346935.2:c.163dup, NM_001346935.1:c.163dup, XM_047424565.1:c.163dup, XP_006717680.1:p.Arg55fs, NP_694579.1:p.Arg55fs, XP_011537546.1:p.Arg55fs, XP_016871132.1:p.Arg55fs, NP_001333861.1:p.Arg55fs, NP_001333862.1:p.Arg55fs, NP_001333863.1:p.Arg55fs, NP_001333865.1:p.Arg55fs, NP_001333864.1:p.Arg55fs, XP_047280521.1:p.Arg55fs

Select item 14655951946.

rs1465595194 has merged into rs559227200 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:47368636 (GRCh38)
10:48370726 (GRCh37)
Canonical SPDI:: NC_000010.11:47368635:G:
Gene:: ZNF488 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00054/15 (ALFA)
-=0.000446/2 (Estonian)
-=0.001409/373 (TOPMED)
-=0.001449/170 (ExAC)
-=0.001463/359 (GnomAD_exomes)
-=0.001632/229 (GnomAD)
-=0.002697/10 (TWINSUK)
-=0.002854/11 (ALSPAC)
-=0.00501/5 (GoNL)
-=0.00576/72 (GoESP)
HGVS:: NC_000010.11:g.47368636del, NW_003871068.1:g.1639751del, NC_000010.10:g.48370726del, XM_006717617.4:c.194del, XM_006717617.3:c.194del, XM_006717617.2:c.194del, XM_006717617.1:c.194del, NM_153034.4:c.194del, NM_153034.3:c.194del, NM_153034.2:c.194del, XM_011539244.3:c.194del, XM_011539244.2:c.194del, XM_011539244.1:c.194del, XM_017015643.2:c.194del, XM_017015643.1:c.194del, NM_001346932.2:c.194del, NM_001346932.1:c.194del, NM_001346933.2:c.194del, NM_001346933.1:c.194del, NM_001346934.2:c.194del, NM_001346934.1:c.194del, NM_001346936.2:c.194del, NM_001346936.1:c.194del, NM_001346935.2:c.194del, NM_001346935.1:c.194del, XM_047424565.1:c.194del, XP_006717680.1:p.Ala65fs, NP_694579.1:p.Ala65fs, XP_011537546.1:p.Ala65fs, XP_016871132.1:p.Ala65fs, NP_001333861.1:p.Ala65fs, NP_001333862.1:p.Ala65fs, NP_001333863.1:p.Ala65fs, NP_001333865.1:p.Ala65fs, NP_001333864.1:p.Ala65fs, XP_047280521.1:p.Ala65fs

Select item 14603648307.

rs1460364830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47367894 (GRCh38)
10:48371468 (GRCh37)
Canonical SPDI:: NC_000010.11:47367893:C:T
Gene:: ZNF488 (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)
HGVS:: NC_000010.11:g.47367894C>T, NW_003871068.1:g.1639009C>T, NC_000010.10:g.48371468G>A, XM_006717617.4:c.936G>A, XM_006717617.3:c.936G>A, XM_006717617.2:c.936G>A, XM_006717617.1:c.936G>A, NM_153034.4:c.936G>A, NM_153034.3:c.936G>A, NM_153034.2:c.936G>A, XM_011539244.3:c.936G>A, XM_011539244.2:c.936G>A, XM_011539244.1:c.936G>A, XM_017015643.2:c.936G>A, XM_017015643.1:c.936G>A, NM_001346932.2:c.936G>A, NM_001346932.1:c.936G>A, NM_001346933.2:c.936G>A, NM_001346933.1:c.936G>A, NM_001346934.2:c.936G>A, NM_001346934.1:c.936G>A, NM_001346936.2:c.936G>A, NM_001346936.1:c.936G>A, NM_001346935.2:c.936G>A, NM_001346935.1:c.936G>A, XM_047424565.1:c.936G>A

Select item 14600750258.

rs1460075025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47368191 (GRCh38)
10:48371171 (GRCh37)
Canonical SPDI:: NC_000010.11:47368190:C:T
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47368191C>T, NW_003871068.1:g.1639306C>T, NC_000010.10:g.48371171G>A, XM_006717617.4:c.639G>A, XM_006717617.3:c.639G>A, XM_006717617.2:c.639G>A, XM_006717617.1:c.639G>A, NM_153034.4:c.639G>A, NM_153034.3:c.639G>A, NM_153034.2:c.639G>A, XM_011539244.3:c.639G>A, XM_011539244.2:c.639G>A, XM_011539244.1:c.639G>A, XM_017015643.2:c.639G>A, XM_017015643.1:c.639G>A, NM_001346932.2:c.639G>A, NM_001346932.1:c.639G>A, NM_001346933.2:c.639G>A, NM_001346933.1:c.639G>A, NM_001346934.2:c.639G>A, NM_001346934.1:c.639G>A, NM_001346936.2:c.639G>A, NM_001346936.1:c.639G>A, NM_001346935.2:c.639G>A, NM_001346935.1:c.639G>A, XM_047424565.1:c.639G>A

Select item 14565557709.

rs1456555770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47368234 (GRCh38)
10:48371128 (GRCh37)
Canonical SPDI:: NC_000010.11:47368233:G:A
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47368234G>A, NW_003871068.1:g.1639349G>A, NC_000010.10:g.48371128C>T, XM_006717617.4:c.596C>T, XM_006717617.3:c.596C>T, XM_006717617.2:c.596C>T, XM_006717617.1:c.596C>T, NM_153034.4:c.596C>T, NM_153034.3:c.596C>T, NM_153034.2:c.596C>T, XM_011539244.3:c.596C>T, XM_011539244.2:c.596C>T, XM_011539244.1:c.596C>T, XM_017015643.2:c.596C>T, XM_017015643.1:c.596C>T, NM_001346932.2:c.596C>T, NM_001346932.1:c.596C>T, NM_001346933.2:c.596C>T, NM_001346933.1:c.596C>T, NM_001346934.2:c.596C>T, NM_001346934.1:c.596C>T, NM_001346936.2:c.596C>T, NM_001346936.1:c.596C>T, NM_001346935.2:c.596C>T, NM_001346935.1:c.596C>T, XM_047424565.1:c.596C>T, XP_006717680.1:p.Thr199Ile, NP_694579.1:p.Thr199Ile, XP_011537546.1:p.Thr199Ile, XP_016871132.1:p.Thr199Ile, NP_001333861.1:p.Thr199Ile, NP_001333862.1:p.Thr199Ile, NP_001333863.1:p.Thr199Ile, NP_001333865.1:p.Thr199Ile, NP_001333864.1:p.Thr199Ile, XP_047280521.1:p.Thr199Ile

Select item 145433663210.

rs1454336632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47368713 (GRCh38)
10:48370649 (GRCh37)
Canonical SPDI:: NC_000010.11:47368712:A:G
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47368713A>G, NW_003871068.1:g.1639828A>G, NC_000010.10:g.48370649T>C, XM_006717617.4:c.117T>C, XM_006717617.3:c.117T>C, XM_006717617.2:c.117T>C, XM_006717617.1:c.117T>C, NM_153034.4:c.117T>C, NM_153034.3:c.117T>C, NM_153034.2:c.117T>C, XM_011539244.3:c.117T>C, XM_011539244.2:c.117T>C, XM_011539244.1:c.117T>C, XM_017015643.2:c.117T>C, XM_017015643.1:c.117T>C, NM_001346932.2:c.117T>C, NM_001346932.1:c.117T>C, NM_001346933.2:c.117T>C, NM_001346933.1:c.117T>C, NM_001346934.2:c.117T>C, NM_001346934.1:c.117T>C, NM_001346936.2:c.117T>C, NM_001346936.1:c.117T>C, NM_001346935.2:c.117T>C, NM_001346935.1:c.117T>C, XM_047424565.1:c.117T>C

Select item 145428874611.

rs1454288746 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 10:47367910 (GRCh38)
10:48371451 (GRCh37)
Canonical SPDI:: NC_000010.11:47367910:G:GTG
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GT=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47367911_47367912insTG, NW_003871068.1:g.1639026_1639027insTG, NC_000010.10:g.48371451_48371452insAC, XM_006717617.4:c.919_920insAC, XM_006717617.3:c.919_920insAC, XM_006717617.2:c.919_920insAC, XM_006717617.1:c.919_920insAC, NM_153034.4:c.919_920insAC, NM_153034.3:c.919_920insAC, NM_153034.2:c.919_920insAC, XM_011539244.3:c.919_920insAC, XM_011539244.2:c.919_920insAC, XM_011539244.1:c.919_920insAC, XM_017015643.2:c.919_920insAC, XM_017015643.1:c.919_920insAC, NM_001346932.2:c.919_920insAC, NM_001346932.1:c.919_920insAC, NM_001346933.2:c.919_920insAC, NM_001346933.1:c.919_920insAC, NM_001346934.2:c.919_920insAC, NM_001346934.1:c.919_920insAC, NM_001346936.2:c.919_920insAC, NM_001346936.1:c.919_920insAC, NM_001346935.2:c.919_920insAC, NM_001346935.1:c.919_920insAC, XM_047424565.1:c.919_920insAC, XP_006717680.1:p.Pro307fs, NP_694579.1:p.Pro307fs, XP_011537546.1:p.Pro307fs, XP_016871132.1:p.Pro307fs, NP_001333861.1:p.Pro307fs, NP_001333862.1:p.Pro307fs, NP_001333863.1:p.Pro307fs, NP_001333865.1:p.Pro307fs, NP_001333864.1:p.Pro307fs, XP_047280521.1:p.Pro307fs

Select item 144789098112.

rs1447890981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47368407 (GRCh38)
10:48370955 (GRCh37)
Canonical SPDI:: NC_000010.11:47368406:G:A
Gene:: ZNF488 (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_000010.11:g.47368407G>A, NW_003871068.1:g.1639522G>A, NC_000010.10:g.48370955C>T, XM_006717617.4:c.423C>T, XM_006717617.3:c.423C>T, XM_006717617.2:c.423C>T, XM_006717617.1:c.423C>T, NM_153034.4:c.423C>T, NM_153034.3:c.423C>T, NM_153034.2:c.423C>T, XM_011539244.3:c.423C>T, XM_011539244.2:c.423C>T, XM_011539244.1:c.423C>T, XM_017015643.2:c.423C>T, XM_017015643.1:c.423C>T, NM_001346932.2:c.423C>T, NM_001346932.1:c.423C>T, NM_001346933.2:c.423C>T, NM_001346933.1:c.423C>T, NM_001346934.2:c.423C>T, NM_001346934.1:c.423C>T, NM_001346936.2:c.423C>T, NM_001346936.1:c.423C>T, NM_001346935.2:c.423C>T, NM_001346935.1:c.423C>T, XM_047424565.1:c.423C>T

Select item 143475094913.

rs1434750949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:47368700 (GRCh38)
10:48370662 (GRCh37)
Canonical SPDI:: NC_000010.11:47368699:C:A,NC_000010.11:47368699:C:T
Gene:: ZNF488 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.47368700C>A, NC_000010.11:g.47368700C>T, NW_003871068.1:g.1639815C>A, NW_003871068.1:g.1639815C>T, NC_000010.10:g.48370662G>T, NC_000010.10:g.48370662G>A, XM_006717617.4:c.130G>T, XM_006717617.4:c.130G>A, XM_006717617.3:c.130G>T, XM_006717617.3:c.130G>A, XM_006717617.2:c.130G>T, XM_006717617.2:c.130G>A, XM_006717617.1:c.130G>T, XM_006717617.1:c.130G>A, NM_153034.4:c.130G>T, NM_153034.4:c.130G>A, NM_153034.3:c.130G>T, NM_153034.3:c.130G>A, NM_153034.2:c.130G>T, NM_153034.2:c.130G>A, XM_011539244.3:c.130G>T, XM_011539244.3:c.130G>A, XM_011539244.2:c.130G>T, XM_011539244.2:c.130G>A, XM_011539244.1:c.130G>T, XM_011539244.1:c.130G>A, XM_017015643.2:c.130G>T, XM_017015643.2:c.130G>A, XM_017015643.1:c.130G>T, XM_017015643.1:c.130G>A, NM_001346932.2:c.130G>T, NM_001346932.2:c.130G>A, NM_001346932.1:c.130G>T, NM_001346932.1:c.130G>A, NM_001346933.2:c.130G>T, NM_001346933.2:c.130G>A, NM_001346933.1:c.130G>T, NM_001346933.1:c.130G>A, NM_001346934.2:c.130G>T, NM_001346934.2:c.130G>A, NM_001346934.1:c.130G>T, NM_001346934.1:c.130G>A, NM_001346936.2:c.130G>T, NM_001346936.2:c.130G>A, NM_001346936.1:c.130G>T, NM_001346936.1:c.130G>A, NM_001346935.2:c.130G>T, NM_001346935.2:c.130G>A, NM_001346935.1:c.130G>T, NM_001346935.1:c.130G>A, XM_047424565.1:c.130G>T, XM_047424565.1:c.130G>A, XP_006717680.1:p.Gly44Cys, XP_006717680.1:p.Gly44Ser, NP_694579.1:p.Gly44Cys, NP_694579.1:p.Gly44Ser, XP_011537546.1:p.Gly44Cys, XP_011537546.1:p.Gly44Ser, XP_016871132.1:p.Gly44Cys, XP_016871132.1:p.Gly44Ser, NP_001333861.1:p.Gly44Cys, NP_001333861.1:p.Gly44Ser, NP_001333862.1:p.Gly44Cys, NP_001333862.1:p.Gly44Ser, NP_001333863.1:p.Gly44Cys, NP_001333863.1:p.Gly44Ser, NP_001333865.1:p.Gly44Cys, NP_001333865.1:p.Gly44Ser, NP_001333864.1:p.Gly44Cys, NP_001333864.1:p.Gly44Ser, XP_047280521.1:p.Gly44Cys, XP_047280521.1:p.Gly44Ser

Select item 143248308214.

rs1432483082 has merged into rs782817566 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:47368790 (GRCh38)
10:48370570 (GRCh37)
Canonical SPDI:: NC_000010.11:47368789:GGG:GG
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0./0 (ExAC)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.47368792del, NW_003871068.1:g.1639907del, NC_000010.10:g.48370572del, XM_006717617.4:c.40del, XM_006717617.3:c.40del, XM_006717617.2:c.40del, XM_006717617.1:c.40del, NM_153034.4:c.40del, NM_153034.3:c.40del, NM_153034.2:c.40del, XM_011539244.3:c.40del, XM_011539244.2:c.40del, XM_011539244.1:c.40del, XM_017015643.2:c.40del, XM_017015643.1:c.40del, NM_001346932.2:c.40del, NM_001346932.1:c.40del, NM_001346933.2:c.40del, NM_001346933.1:c.40del, NM_001346934.2:c.40del, NM_001346934.1:c.40del, NM_001346936.2:c.40del, NM_001346936.1:c.40del, NM_001346935.2:c.40del, NM_001346935.1:c.40del, XM_047424565.1:c.40del, XP_006717680.1:p.Leu14fs, NP_694579.1:p.Leu14fs, XP_011537546.1:p.Leu14fs, XP_016871132.1:p.Leu14fs, NP_001333861.1:p.Leu14fs, NP_001333862.1:p.Leu14fs, NP_001333863.1:p.Leu14fs, NP_001333865.1:p.Leu14fs, NP_001333864.1:p.Leu14fs, XP_047280521.1:p.Leu14fs

Select item 143142674015.

rs1431426740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:47368472 (GRCh38)
10:48370890 (GRCh37)
Canonical SPDI:: NC_000010.11:47368471:T:C
Gene:: ZNF488 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47368472T>C, NW_003871068.1:g.1639587T>C, NC_000010.10:g.48370890A>G, XM_006717617.4:c.358A>G, XM_006717617.3:c.358A>G, XM_006717617.2:c.358A>G, XM_006717617.1:c.358A>G, NM_153034.4:c.358A>G, NM_153034.3:c.358A>G, NM_153034.2:c.358A>G, XM_011539244.3:c.358A>G, XM_011539244.2:c.358A>G, XM_011539244.1:c.358A>G, XM_017015643.2:c.358A>G, XM_017015643.1:c.358A>G, NM_001346932.2:c.358A>G, NM_001346932.1:c.358A>G, NM_001346933.2:c.358A>G, NM_001346933.1:c.358A>G, NM_001346934.2:c.358A>G, NM_001346934.1:c.358A>G, NM_001346936.2:c.358A>G, NM_001346936.1:c.358A>G, NM_001346935.2:c.358A>G, NM_001346935.1:c.358A>G, XM_047424565.1:c.358A>G, XP_006717680.1:p.Arg120Gly, NP_694579.1:p.Arg120Gly, XP_011537546.1:p.Arg120Gly, XP_016871132.1:p.Arg120Gly, NP_001333861.1:p.Arg120Gly, NP_001333862.1:p.Arg120Gly, NP_001333863.1:p.Arg120Gly, NP_001333865.1:p.Arg120Gly, NP_001333864.1:p.Arg120Gly, XP_047280521.1:p.Arg120Gly

Select item 142662893916.

rs1426628939 has merged into rs782171072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTGGG [Show Flanks]
Chromosome:: 10:47368087 (GRCh38)
10:48371263 (GRCh37)
Canonical SPDI:: NC_000010.11:47368087:CCTGGGCCTGGG:CCTGGGCCTGGGCCTGGG
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CCTGGGCCTGGGCCTGGG=0.000043/1 (ALFA)
CCTGGG=0.000019/5 (TOPMED)
CCCAGG=0.000049/6 (ExAC)
CCCAGG=0.000056/14 (GnomAD_exomes)
HGVS:: NC_000010.11:g.47368088CCTGGG[3], NW_003871068.1:g.1639203CCTGGG[3], NC_000010.10:g.48371263CCCAGG[3], XM_006717617.4:c.731CCCAGG[3], XM_006717617.3:c.731CCCAGG[3], XM_006717617.2:c.731CCCAGG[3], XM_006717617.1:c.731CCCAGG[3], NM_153034.4:c.731CCCAGG[3], NM_153034.3:c.731CCCAGG[3], NM_153034.2:c.731CCCAGG[3], XM_011539244.3:c.731CCCAGG[3], XM_011539244.2:c.731CCCAGG[3], XM_011539244.1:c.731CCCAGG[3], XM_017015643.2:c.731CCCAGG[3], XM_017015643.1:c.731CCCAGG[3], NM_001346932.2:c.731CCCAGG[3], NM_001346932.1:c.731CCCAGG[3], NM_001346933.2:c.731CCCAGG[3], NM_001346933.1:c.731CCCAGG[3], NM_001346934.2:c.731CCCAGG[3], NM_001346934.1:c.731CCCAGG[3], NM_001346936.2:c.731CCCAGG[3], NM_001346936.1:c.731CCCAGG[3], NM_001346935.2:c.731CCCAGG[3], NM_001346935.1:c.731CCCAGG[3], XM_047424565.1:c.731CCCAGG[3], XP_006717680.1:p.Ala246_Gln247dup, NP_694579.1:p.Ala246_Gln247dup, XP_011537546.1:p.Ala246_Gln247dup, XP_016871132.1:p.Ala246_Gln247dup, NP_001333861.1:p.Ala246_Gln247dup, NP_001333862.1:p.Ala246_Gln247dup, NP_001333863.1:p.Ala246_Gln247dup, NP_001333865.1:p.Ala246_Gln247dup, NP_001333864.1:p.Ala246_Gln247dup, XP_047280521.1:p.Ala246_Gln247dup

Select item 142288778817.

rs1422887788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47368088 (GRCh38)
10:48371274 (GRCh37)
Canonical SPDI:: NC_000010.11:47368087:C:T
Gene:: ZNF488 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47368088C>T, NW_003871068.1:g.1639203C>T, NC_000010.10:g.48371274G>A, XM_006717617.4:c.742G>A, XM_006717617.3:c.742G>A, XM_006717617.2:c.742G>A, XM_006717617.1:c.742G>A, NM_153034.4:c.742G>A, NM_153034.3:c.742G>A, NM_153034.2:c.742G>A, XM_011539244.3:c.742G>A, XM_011539244.2:c.742G>A, XM_011539244.1:c.742G>A, XM_017015643.2:c.742G>A, XM_017015643.1:c.742G>A, NM_001346932.2:c.742G>A, NM_001346932.1:c.742G>A, NM_001346933.2:c.742G>A, NM_001346933.1:c.742G>A, NM_001346934.2:c.742G>A, NM_001346934.1:c.742G>A, NM_001346936.2:c.742G>A, NM_001346936.1:c.742G>A, NM_001346935.2:c.742G>A, NM_001346935.1:c.742G>A, XM_047424565.1:c.742G>A, XP_006717680.1:p.Val248Met, NP_694579.1:p.Val248Met, XP_011537546.1:p.Val248Met, XP_016871132.1:p.Val248Met, NP_001333861.1:p.Val248Met, NP_001333862.1:p.Val248Met, NP_001333863.1:p.Val248Met, NP_001333865.1:p.Val248Met, NP_001333864.1:p.Val248Met, XP_047280521.1:p.Val248Met

Select item 141061696518.

rs1410616965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:47368553 (GRCh38)
10:48370809 (GRCh37)
Canonical SPDI:: NC_000010.11:47368552:T:A
Gene:: ZNF488 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47368553T>A, NW_003871068.1:g.1639668T>A, NC_000010.10:g.48370809A>T, XM_006717617.4:c.277A>T, XM_006717617.3:c.277A>T, XM_006717617.2:c.277A>T, XM_006717617.1:c.277A>T, NM_153034.4:c.277A>T, NM_153034.3:c.277A>T, NM_153034.2:c.277A>T, XM_011539244.3:c.277A>T, XM_011539244.2:c.277A>T, XM_011539244.1:c.277A>T, XM_017015643.2:c.277A>T, XM_017015643.1:c.277A>T, NM_001346932.2:c.277A>T, NM_001346932.1:c.277A>T, NM_001346933.2:c.277A>T, NM_001346933.1:c.277A>T, NM_001346934.2:c.277A>T, NM_001346934.1:c.277A>T, NM_001346936.2:c.277A>T, NM_001346936.1:c.277A>T, NM_001346935.2:c.277A>T, NM_001346935.1:c.277A>T, XM_047424565.1:c.277A>T, XP_006717680.1:p.Thr93Ser, NP_694579.1:p.Thr93Ser, XP_011537546.1:p.Thr93Ser, XP_016871132.1:p.Thr93Ser, NP_001333861.1:p.Thr93Ser, NP_001333862.1:p.Thr93Ser, NP_001333863.1:p.Thr93Ser, NP_001333865.1:p.Thr93Ser, NP_001333864.1:p.Thr93Ser, XP_047280521.1:p.Thr93Ser

Select item 139945032419.

rs1399450324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:47368198 (GRCh38)
10:48371164 (GRCh37)
Canonical SPDI:: NC_000010.11:47368197:T:C
Gene:: ZNF488 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.47368198T>C, NW_003871068.1:g.1639313T>C, NC_000010.10:g.48371164A>G, XM_006717617.4:c.632A>G, XM_006717617.3:c.632A>G, XM_006717617.2:c.632A>G, XM_006717617.1:c.632A>G, NM_153034.4:c.632A>G, NM_153034.3:c.632A>G, NM_153034.2:c.632A>G, XM_011539244.3:c.632A>G, XM_011539244.2:c.632A>G, XM_011539244.1:c.632A>G, XM_017015643.2:c.632A>G, XM_017015643.1:c.632A>G, NM_001346932.2:c.632A>G, NM_001346932.1:c.632A>G, NM_001346933.2:c.632A>G, NM_001346933.1:c.632A>G, NM_001346934.2:c.632A>G, NM_001346934.1:c.632A>G, NM_001346936.2:c.632A>G, NM_001346936.1:c.632A>G, NM_001346935.2:c.632A>G, NM_001346935.1:c.632A>G, XM_047424565.1:c.632A>G, XP_006717680.1:p.Lys211Arg, NP_694579.1:p.Lys211Arg, XP_011537546.1:p.Lys211Arg, XP_016871132.1:p.Lys211Arg, NP_001333861.1:p.Lys211Arg, NP_001333862.1:p.Lys211Arg, NP_001333863.1:p.Lys211Arg, NP_001333865.1:p.Lys211Arg, NP_001333864.1:p.Lys211Arg, XP_047280521.1:p.Lys211Arg

Select item 139922673820.

rs1399226738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:47368481 (GRCh38)
10:48370881 (GRCh37)
Canonical SPDI:: NC_000010.11:47368480:C:A,NC_000010.11:47368480:C:T
Gene:: ZNF488 (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)
T=0.00006/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.47368481C>A, NC_000010.11:g.47368481C>T, NW_003871068.1:g.1639596C>A, NW_003871068.1:g.1639596C>T, NC_000010.10:g.48370881G>T, NC_000010.10:g.48370881G>A, XM_006717617.4:c.349G>T, XM_006717617.4:c.349G>A, XM_006717617.3:c.349G>T, XM_006717617.3:c.349G>A, XM_006717617.2:c.349G>T, XM_006717617.2:c.349G>A, XM_006717617.1:c.349G>T, XM_006717617.1:c.349G>A, NM_153034.4:c.349G>T, NM_153034.4:c.349G>A, NM_153034.3:c.349G>T, NM_153034.3:c.349G>A, NM_153034.2:c.349G>T, NM_153034.2:c.349G>A, XM_011539244.3:c.349G>T, XM_011539244.3:c.349G>A, XM_011539244.2:c.349G>T, XM_011539244.2:c.349G>A, XM_011539244.1:c.349G>T, XM_011539244.1:c.349G>A, XM_017015643.2:c.349G>T, XM_017015643.2:c.349G>A, XM_017015643.1:c.349G>T, XM_017015643.1:c.349G>A, NM_001346932.2:c.349G>T, NM_001346932.2:c.349G>A, NM_001346932.1:c.349G>T, NM_001346932.1:c.349G>A, NM_001346933.2:c.349G>T, NM_001346933.2:c.349G>A, NM_001346933.1:c.349G>T, NM_001346933.1:c.349G>A, NM_001346934.2:c.349G>T, NM_001346934.2:c.349G>A, NM_001346934.1:c.349G>T, NM_001346934.1:c.349G>A, NM_001346936.2:c.349G>T, NM_001346936.2:c.349G>A, NM_001346936.1:c.349G>T, NM_001346936.1:c.349G>A, NM_001346935.2:c.349G>T, NM_001346935.2:c.349G>A, NM_001346935.1:c.349G>T, NM_001346935.1:c.349G>A, XM_047424565.1:c.349G>T, XM_047424565.1:c.349G>A, XP_006717680.1:p.Ala117Ser, XP_006717680.1:p.Ala117Thr, NP_694579.1:p.Ala117Ser, NP_694579.1:p.Ala117Thr, XP_011537546.1:p.Ala117Ser, XP_011537546.1:p.Ala117Thr, XP_016871132.1:p.Ala117Ser, XP_016871132.1:p.Ala117Thr, NP_001333861.1:p.Ala117Ser, NP_001333861.1:p.Ala117Thr, NP_001333862.1:p.Ala117Ser, NP_001333862.1:p.Ala117Thr, NP_001333863.1:p.Ala117Ser, NP_001333863.1:p.Ala117Thr, NP_001333865.1:p.Ala117Ser, NP_001333865.1:p.Ala117Thr, NP_001333864.1:p.Ala117Ser, NP_001333864.1:p.Ala117Thr, XP_047280521.1:p.Ala117Ser, XP_047280521.1:p.Ala117Thr

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