SNP Links for Protein (Select 1017029399) - SNP

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Links from Protein

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Select item 14911385751.

rs1491138575 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:12391215 (GRCh38)
19:12502029 (GRCh37)
Canonical SPDI:: NC_000019.10:12391214:AT:
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000032/8 (GnomAD_exomes)
-=0.000058/7 (ExAC)
HGVS:: NC_000019.10:g.12391215_12391216del, NC_000019.9:g.12502029_12502030del, NM_001080821.3:c.1182_1183del, NM_001080821.2:c.1182_1183del, NM_001322497.2:c.1086_1087del, NM_001322497.1:c.1086_1087del, NM_001322498.2:c.1086_1087del, NM_001322498.1:c.1086_1087del, XM_047439649.1:c.1182_1183del, NP_001074290.1:p.Cys395fs, NP_001309426.1:p.Cys363fs, NP_001309427.1:p.Cys363fs, XP_047295605.1:p.Cys395fs

Select item 14901943042.

rs1490194304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12390979 (GRCh38)
19:12501793 (GRCh37)
Canonical SPDI:: NC_000019.10:12390978:C:T
Gene:: ZNF799 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0016/3 (Korea1K)
HGVS:: NC_000019.10:g.12390979C>T, NC_000019.9:g.12501793C>T, NM_001080821.3:c.1419G>A, NM_001080821.2:c.1419G>A, NM_001322497.2:c.1323G>A, NM_001322497.1:c.1323G>A, NM_001322498.2:c.1323G>A, NM_001322498.1:c.1323G>A, XM_047439649.1:c.1419G>A

Select item 14897232423.

rs1489723242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:12391934 (GRCh38)
19:12502748 (GRCh37)
Canonical SPDI:: NC_000019.10:12391933:G:A,NC_000019.10:12391933:G:T
Gene:: ZNF799 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.12391934G>A, NC_000019.10:g.12391934G>T, NC_000019.9:g.12502748G>A, NC_000019.9:g.12502748G>T, NM_001080821.3:c.464C>T, NM_001080821.3:c.464C>A, NM_001080821.2:c.464C>T, NM_001080821.2:c.464C>A, NM_001322497.2:c.368C>T, NM_001322497.2:c.368C>A, NM_001322497.1:c.368C>T, NM_001322497.1:c.368C>A, NM_001322498.2:c.368C>T, NM_001322498.2:c.368C>A, NM_001322498.1:c.368C>T, NM_001322498.1:c.368C>A, XM_047439649.1:c.464C>T, XM_047439649.1:c.464C>A, XM_047439650.1:c.368C>T, XM_047439650.1:c.368C>A, NP_001074290.1:p.Ser155Leu, NP_001074290.1:p.Ser155Ter, NP_001309426.1:p.Ser123Leu, NP_001309426.1:p.Ser123Ter, NP_001309427.1:p.Ser123Leu, NP_001309427.1:p.Ser123Ter, XP_047295605.1:p.Ser155Leu, XP_047295605.1:p.Ser155Ter, XP_047295606.1:p.Ser123Leu, XP_047295606.1:p.Ser123Ter

Select item 14890690304.

rs1489069030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:12391318 (GRCh38)
19:12502132 (GRCh37)
Canonical SPDI:: NC_000019.10:12391317:A:C
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12391318A>C, NC_000019.9:g.12502132A>C, NM_001080821.3:c.1080T>G, NM_001080821.2:c.1080T>G, NM_001322497.2:c.984T>G, NM_001322497.1:c.984T>G, NM_001322498.2:c.984T>G, NM_001322498.1:c.984T>G, XM_047439649.1:c.1080T>G

Select item 14850223675.

rs1485022367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:12391064 (GRCh38)
19:12501878 (GRCh37)
Canonical SPDI:: NC_000019.10:12391063:C:A,NC_000019.10:12391063:C:G
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12391064C>A, NC_000019.10:g.12391064C>G, NC_000019.9:g.12501878C>A, NC_000019.9:g.12501878C>G, NM_001080821.3:c.1334G>T, NM_001080821.3:c.1334G>C, NM_001080821.2:c.1334G>T, NM_001080821.2:c.1334G>C, NM_001322497.2:c.1238G>T, NM_001322497.2:c.1238G>C, NM_001322497.1:c.1238G>T, NM_001322497.1:c.1238G>C, NM_001322498.2:c.1238G>T, NM_001322498.2:c.1238G>C, NM_001322498.1:c.1238G>T, NM_001322498.1:c.1238G>C, XM_047439649.1:c.1334G>T, XM_047439649.1:c.1334G>C, NP_001074290.1:p.Gly445Val, NP_001074290.1:p.Gly445Ala, NP_001309426.1:p.Gly413Val, NP_001309426.1:p.Gly413Ala, NP_001309427.1:p.Gly413Val, NP_001309427.1:p.Gly413Ala, XP_047295605.1:p.Gly445Val, XP_047295605.1:p.Gly445Ala

Select item 14844818916.

rs1484481891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:12391112 (GRCh38)
19:12501926 (GRCh37)
Canonical SPDI:: NC_000019.10:12391111:G:A
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12391112G>A, NC_000019.9:g.12501926G>A, NM_001080821.3:c.1286C>T, NM_001080821.2:c.1286C>T, NM_001322497.2:c.1190C>T, NM_001322497.1:c.1190C>T, NM_001322498.2:c.1190C>T, NM_001322498.1:c.1190C>T, XM_047439649.1:c.1286C>T, NP_001074290.1:p.Ala429Val, NP_001309426.1:p.Ala397Val, NP_001309427.1:p.Ala397Val, XP_047295605.1:p.Ala429Val

Select item 14806976157.

rs1480697615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12392631 (GRCh38)
19:12503445 (GRCh37)
Canonical SPDI:: NC_000019.10:12392630:G:C
Gene:: ZNF799 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.12392631G>C, NC_000019.9:g.12503445G>C, NM_001080821.3:c.163C>G, NM_001080821.2:c.163C>G, NM_001322497.2:c.67C>G, NM_001322497.1:c.67C>G, NM_001322498.2:c.67C>G, NM_001322498.1:c.67C>G, XM_047439649.1:c.163C>G, XM_047439650.1:c.67C>G, NP_001074290.1:p.Gln55Glu, NP_001309426.1:p.Gln23Glu, NP_001309427.1:p.Gln23Glu, XP_047295605.1:p.Gln55Glu, XP_047295606.1:p.Gln23Glu

Select item 14803706648.

rs1480370664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12391746 (GRCh38)
19:12502560 (GRCh37)
Canonical SPDI:: NC_000019.10:12391745:T:C
Gene:: ZNF799 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.12391746T>C, NC_000019.9:g.12502560T>C, NM_001080821.3:c.652A>G, NM_001080821.2:c.652A>G, NM_001322497.2:c.556A>G, NM_001322497.1:c.556A>G, NM_001322498.2:c.556A>G, NM_001322498.1:c.556A>G, XM_047439649.1:c.652A>G, XM_047439650.1:c.522A>G, NP_001074290.1:p.Thr218Ala, NP_001309426.1:p.Thr186Ala, NP_001309427.1:p.Thr186Ala, XP_047295605.1:p.Thr218Ala

Select item 14800149869.

rs1480014986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12391856 (GRCh38)
19:12502670 (GRCh37)
Canonical SPDI:: NC_000019.10:12391855:A:G
Gene:: ZNF799 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.12391856A>G, NC_000019.9:g.12502670A>G, NM_001080821.3:c.542T>C, NM_001080821.2:c.542T>C, NM_001322497.2:c.446T>C, NM_001322497.1:c.446T>C, NM_001322498.2:c.446T>C, NM_001322498.1:c.446T>C, XM_047439649.1:c.542T>C, XM_047439650.1:c.446T>C, NP_001074290.1:p.Leu181Ser, NP_001309426.1:p.Leu149Ser, NP_001309427.1:p.Leu149Ser, XP_047295605.1:p.Leu181Ser, XP_047295606.1:p.Leu149Ser

Select item 147871388010.

rs1478713880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12391265 (GRCh38)
19:12502079 (GRCh37)
Canonical SPDI:: NC_000019.10:12391264:G:C
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12391265G>C, NC_000019.9:g.12502079G>C, NM_001080821.3:c.1133C>G, NM_001080821.2:c.1133C>G, NM_001322497.2:c.1037C>G, NM_001322497.1:c.1037C>G, NM_001322498.2:c.1037C>G, NM_001322498.1:c.1037C>G, XM_047439649.1:c.1133C>G, NP_001074290.1:p.Ser378Ter, NP_001309426.1:p.Ser346Ter, NP_001309427.1:p.Ser346Ter, XP_047295605.1:p.Ser378Ter

Select item 147860170311.

rs1478601703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:12390647 (GRCh38)
19:12501461 (GRCh37)
Canonical SPDI:: NC_000019.10:12390646:C:G,NC_000019.10:12390646:C:T
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12390647C>G, NC_000019.10:g.12390647C>T, NC_000019.9:g.12501461C>G, NC_000019.9:g.12501461C>T, NM_001080821.3:c.1751G>C, NM_001080821.3:c.1751G>A, NM_001080821.2:c.1751G>C, NM_001080821.2:c.1751G>A, NM_001322497.2:c.1655G>C, NM_001322497.2:c.1655G>A, NM_001322497.1:c.1655G>C, NM_001322497.1:c.1655G>A, NM_001322498.2:c.1655G>C, NM_001322498.2:c.1655G>A, NM_001322498.1:c.1655G>C, NM_001322498.1:c.1655G>A, XM_047439649.1:c.1751G>C, XM_047439649.1:c.1751G>A, NP_001074290.1:p.Gly584Ala, NP_001074290.1:p.Gly584Glu, NP_001309426.1:p.Gly552Ala, NP_001309426.1:p.Gly552Glu, NP_001309427.1:p.Gly552Ala, NP_001309427.1:p.Gly552Glu, XP_047295605.1:p.Gly584Ala, XP_047295605.1:p.Gly584Glu

Select item 147849737812.

rs1478497378 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:12391474 (GRCh38)
19:12502288 (GRCh37)
Canonical SPDI:: NC_000019.10:12391473:GGG:GG
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12391476del, NC_000019.9:g.12502290del, NM_001080821.3:c.924del, NM_001080821.2:c.924del, NM_001322497.2:c.828del, NM_001322497.1:c.828del, NM_001322498.2:c.828del, NM_001322498.1:c.828del, XM_047439649.1:c.924del, NP_001074290.1:p.Tyr309fs, NP_001309426.1:p.Tyr277fs, NP_001309427.1:p.Tyr277fs, XP_047295605.1:p.Tyr309fs

Select item 147838468313.

rs1478384683 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:12390877 (GRCh38)
19:12501691 (GRCh37)
Canonical SPDI:: NC_000019.10:12390873:TGTGT:TGT
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12390875GT[1], NC_000019.9:g.12501689GT[1], NM_001080821.3:c.1523_1524del, NM_001080821.2:c.1523_1524del, NM_001322497.2:c.1427_1428del, NM_001322497.1:c.1427_1428del, NM_001322498.2:c.1427_1428del, NM_001322498.1:c.1427_1428del, XM_047439649.1:c.1523_1524del, NP_001074290.1:p.Thr508fs, NP_001309426.1:p.Thr476fs, NP_001309427.1:p.Thr476fs, XP_047295605.1:p.Thr508fs

Select item 147708287014.

rs1477082870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:12390989 (GRCh38)
19:12501803 (GRCh37)
Canonical SPDI:: NC_000019.10:12390988:T:G
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000318/5 (TOMMO)
HGVS:: NC_000019.10:g.12390989T>G, NC_000019.9:g.12501803T>G, NM_001080821.3:c.1409A>C, NM_001080821.2:c.1409A>C, NM_001322497.2:c.1313A>C, NM_001322497.1:c.1313A>C, NM_001322498.2:c.1313A>C, NM_001322498.1:c.1313A>C, XM_047439649.1:c.1409A>C, NP_001074290.1:p.His470Pro, NP_001309426.1:p.His438Pro, NP_001309427.1:p.His438Pro, XP_047295605.1:p.His470Pro

Select item 147545362415.

rs1475453624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:12392130 (GRCh38)
19:12502944 (GRCh37)
Canonical SPDI:: NC_000019.10:12392129:T:C,NC_000019.10:12392129:T:G
Gene:: ZNF799 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.12392130T>C, NC_000019.10:g.12392130T>G, NC_000019.9:g.12502944T>C, NC_000019.9:g.12502944T>G, NM_001080821.3:c.268A>G, NM_001080821.3:c.268A>C, NM_001080821.2:c.268A>G, NM_001080821.2:c.268A>C, NM_001322497.2:c.172A>G, NM_001322497.2:c.172A>C, NM_001322497.1:c.172A>G, NM_001322497.1:c.172A>C, NM_001322498.2:c.172A>G, NM_001322498.2:c.172A>C, NM_001322498.1:c.172A>G, NM_001322498.1:c.172A>C, XM_047439649.1:c.268A>G, XM_047439649.1:c.268A>C, XM_047439650.1:c.172A>G, XM_047439650.1:c.172A>C, NP_001074290.1:p.Ser90Gly, NP_001074290.1:p.Ser90Arg, NP_001309426.1:p.Ser58Gly, NP_001309426.1:p.Ser58Arg, NP_001309427.1:p.Ser58Gly, NP_001309427.1:p.Ser58Arg, XP_047295605.1:p.Ser90Gly, XP_047295605.1:p.Ser90Arg, XP_047295606.1:p.Ser58Gly, XP_047295606.1:p.Ser58Arg

Select item 147473336916.

rs1474733369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12391558 (GRCh38)
19:12502372 (GRCh37)
Canonical SPDI:: NC_000019.10:12391557:G:C
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12391558G>C, NC_000019.9:g.12502372G>C, NM_001080821.3:c.840C>G, NM_001080821.2:c.840C>G, NM_001322497.2:c.744C>G, NM_001322497.1:c.744C>G, NM_001322498.2:c.744C>G, NM_001322498.1:c.744C>G, XM_047439649.1:c.840C>G

Select item 147464323017.

rs1474643230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12392626 (GRCh38)
19:12503440 (GRCh37)
Canonical SPDI:: NC_000019.10:12392625:A:G
Gene:: ZNF799 (Varview)
Functional Consequence:: synonymous_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.12392626A>G, NC_000019.9:g.12503440A>G, NM_001080821.3:c.168T>C, NM_001080821.2:c.168T>C, NM_001322497.2:c.72T>C, NM_001322497.1:c.72T>C, NM_001322498.2:c.72T>C, NM_001322498.1:c.72T>C, XM_047439649.1:c.168T>C, XM_047439650.1:c.72T>C

Select item 147350675318.

rs1473506753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:12390568 (GRCh38)
19:12501382 (GRCh37)
Canonical SPDI:: NC_000019.10:12390567:G:C
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.12390568G>C, NC_000019.9:g.12501382G>C, NM_001080821.3:c.1830C>G, NM_001080821.2:c.1830C>G, NM_001322497.2:c.1734C>G, NM_001322497.1:c.1734C>G, NM_001322498.2:c.1734C>G, NM_001322498.1:c.1734C>G, XM_047439649.1:c.1830C>G, NP_001074290.1:p.His610Gln, NP_001309426.1:p.His578Gln, NP_001309427.1:p.His578Gln, XP_047295605.1:p.His610Gln

Select item 147304562219.

rs1473045622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12391331 (GRCh38)
19:12502145 (GRCh37)
Canonical SPDI:: NC_000019.10:12391330:T:C
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12391331T>C, NC_000019.9:g.12502145T>C, NM_001080821.3:c.1067A>G, NM_001080821.2:c.1067A>G, NM_001322497.2:c.971A>G, NM_001322497.1:c.971A>G, NM_001322498.2:c.971A>G, NM_001322498.1:c.971A>G, XM_047439649.1:c.1067A>G, NP_001074290.1:p.Glu356Gly, NP_001309426.1:p.Glu324Gly, NP_001309427.1:p.Glu324Gly, XP_047295605.1:p.Glu356Gly

Select item 147231271520.

rs1472312715 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:12390805 (GRCh38)
19:12501619 (GRCh37)
Canonical SPDI:: NC_000019.10:12390804:CG:
Gene:: ZNF799 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12390805_12390806del, NC_000019.9:g.12501619_12501620del, NM_001080821.3:c.1592_1593del, NM_001080821.2:c.1592_1593del, NM_001322497.2:c.1496_1497del, NM_001322497.1:c.1496_1497del, NM_001322498.2:c.1496_1497del, NM_001322498.1:c.1496_1497del, XM_047439649.1:c.1592_1593del, NP_001074290.1:p.Pro531fs, NP_001309426.1:p.Pro499fs, NP_001309427.1:p.Pro499fs, XP_047295605.1:p.Pro531fs

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