SNP Links for Protein (Select 169234949) - SNP

Links from Protein

Items: 1 to 20 of 936

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Select item 14907497521.

rs1490749752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:107416246 (GRCh38)
11:107286972 (GRCh37)
Canonical SPDI:: NC_000011.10:107416245:T:C,NC_000011.10:107416245:T:G
Gene:: CWF19L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.107416246T>C, NC_000011.10:g.107416246T>G, NC_000011.9:g.107286972T>C, NC_000011.9:g.107286972T>G, NM_152434.3:c.1580A>G, NM_152434.3:c.1580A>C, NM_152434.2:c.1580A>G, NM_152434.2:c.1580A>C, XR_007062452.1:n.1589A>G, XR_007062452.1:n.1589A>C, XM_047426419.1:c.152A>G, XM_047426419.1:c.152A>C, NP_689647.2:p.Glu527Gly, NP_689647.2:p.Glu527Ala, XP_047282375.1:p.Glu51Gly, XP_047282375.1:p.Glu51Ala

Select item 14893243842.

rs1489324384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:107457747 (GRCh38)
11:107328473 (GRCh37)
Canonical SPDI:: NC_000011.10:107457746:G:A,NC_000011.10:107457746:G:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107457747G>A, NC_000011.10:g.107457747G>C, NC_000011.9:g.107328473G>A, NC_000011.9:g.107328473G>C, XM_011542620.4:c.70C>T, XM_011542620.4:c.70C>G, XM_011542620.3:c.70C>T, XM_011542620.3:c.70C>G, XM_011542620.2:c.70C>T, XM_011542620.2:c.70C>G, XM_011542620.1:c.70C>T, XM_011542620.1:c.70C>G, NM_152434.3:c.70C>T, NM_152434.3:c.70C>G, NM_152434.2:c.70C>T, NM_152434.2:c.70C>G, XR_007062452.1:n.79C>T, XR_007062452.1:n.79C>G, XP_011540922.1:p.Gln24Ter, XP_011540922.1:p.Gln24Glu, NP_689647.2:p.Gln24Ter, NP_689647.2:p.Gln24Glu

Select item 14884870223.

rs1488487022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107454549 (GRCh38)
11:107325275 (GRCh37)
Canonical SPDI:: NC_000011.10:107454548:C:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.0016/7 (ALFA)
HGVS:: NC_000011.10:g.107454549C>T, NC_000011.9:g.107325275C>T, XM_011542620.4:c.240G>A, XM_011542620.3:c.240G>A, XM_011542620.2:c.240G>A, XM_011542620.1:c.240G>A, NM_152434.3:c.240G>A, NM_152434.2:c.240G>A, XR_007062452.1:n.249G>A

Select item 14875172444.

rs1487517244 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:107336594 (GRCh38)
11:107207320 (GRCh37)
Canonical SPDI:: NC_000011.10:107336593:GGG:GG
Gene:: CWF19L2 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107336596del, NC_000011.9:g.107207322del, NM_152434.3:c.2322del, NM_152434.2:c.2322del, XM_047426419.1:c.894del, NP_689647.2:p.Lys775fs, XP_047282375.1:p.Lys299fs

Select item 14871285115.

rs1487128511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107353633 (GRCh38)
11:107224359 (GRCh37)
Canonical SPDI:: NC_000011.10:107353632:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107353633T>C, NC_000011.9:g.107224359T>C, NM_152434.3:c.1976A>G, NM_152434.2:c.1976A>G, XR_007062452.1:n.1985A>G, XM_047426419.1:c.548A>G, NP_689647.2:p.Lys659Arg, XP_047282375.1:p.Lys183Arg

Select item 14869344556.

rs1486934455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:107416214 (GRCh38)
11:107286940 (GRCh37)
Canonical SPDI:: NC_000011.10:107416213:C:G
Gene:: CWF19L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.107416214C>G, NC_000011.9:g.107286940C>G, NM_152434.3:c.1612G>C, NM_152434.2:c.1612G>C, XR_007062452.1:n.1621G>C, XM_047426419.1:c.184G>C, NP_689647.2:p.Val538Leu, XP_047282375.1:p.Val62Leu

Select item 14860796667.

rs1486079666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107353635 (GRCh38)
11:107224361 (GRCh37)
Canonical SPDI:: NC_000011.10:107353634:C:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000011.10:g.107353635C>T, NC_000011.9:g.107224361C>T, NM_152434.3:c.1974G>A, NM_152434.2:c.1974G>A, XR_007062452.1:n.1983G>A, XM_047426419.1:c.546G>A

Select item 14851689968.

rs1485168996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:107336604 (GRCh38)
11:107207330 (GRCh37)
Canonical SPDI:: NC_000011.10:107336603:A:G,NC_000011.10:107336603:A:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.107336604A>G, NC_000011.10:g.107336604A>T, NC_000011.9:g.107207330A>G, NC_000011.9:g.107207330A>T, NM_152434.3:c.2312T>C, NM_152434.3:c.2312T>A, NM_152434.2:c.2312T>C, NM_152434.2:c.2312T>A, XM_047426419.1:c.884T>C, XM_047426419.1:c.884T>A, NP_689647.2:p.Ile771Thr, NP_689647.2:p.Ile771Asn, XP_047282375.1:p.Ile295Thr, XP_047282375.1:p.Ile295Asn

Select item 14838199199.

rs1483819919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:107429318 (GRCh38)
11:107300044 (GRCh37)
Canonical SPDI:: NC_000011.10:107429317:G:A
Gene:: CWF19L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.107429318G>A, NC_000011.9:g.107300044G>A, XM_011542620.4:c.914C>T, XM_011542620.3:c.914C>T, XM_011542620.2:c.914C>T, XM_011542620.1:c.914C>T, NM_152434.3:c.914C>T, NM_152434.2:c.914C>T, XR_007062452.1:n.923C>T, XP_011540922.1:p.Ser305Leu, NP_689647.2:p.Ser305Leu

Select item 148265870710.

rs1482658707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107455741 (GRCh38)
11:107326467 (GRCh37)
Canonical SPDI:: NC_000011.10:107455740:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107455741T>C, NC_000011.9:g.107326467T>C, XM_011542620.4:c.141A>G, XM_011542620.3:c.141A>G, XM_011542620.2:c.141A>G, XM_011542620.1:c.141A>G, NM_152434.3:c.141A>G, NM_152434.2:c.141A>G, XR_007062452.1:n.150A>G

Select item 148230718911.

rs1482307189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107329941 (GRCh38)
11:107200667 (GRCh37)
Canonical SPDI:: NC_000011.10:107329940:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.107329941T>C, NC_000011.9:g.107200667T>C, NM_152434.3:c.2518A>G, NM_152434.2:c.2518A>G, XM_047426419.1:c.1090A>G, NP_689647.2:p.Lys840Glu, XP_047282375.1:p.Lys364Glu

Select item 148160405512.

rs1481604055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:107390090 (GRCh38)
11:107260816 (GRCh37)
Canonical SPDI:: NC_000011.10:107390089:A:C,NC_000011.10:107390089:A:G
Gene:: CWF19L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.107390090A>C, NC_000011.10:g.107390090A>G, NC_000011.9:g.107260816A>C, NC_000011.9:g.107260816A>G, NM_152434.3:c.1856T>G, NM_152434.3:c.1856T>C, NM_152434.2:c.1856T>G, NM_152434.2:c.1856T>C, XR_007062452.1:n.1865T>G, XR_007062452.1:n.1865T>C, XM_047426419.1:c.428T>G, XM_047426419.1:c.428T>C, NP_689647.2:p.Met619Arg, NP_689647.2:p.Met619Thr, XP_047282375.1:p.Met143Arg, XP_047282375.1:p.Met143Thr

Select item 148133694213.

rs1481336942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:107429169 (GRCh38)
11:107299895 (GRCh37)
Canonical SPDI:: NC_000011.10:107429168:G:C,NC_000011.10:107429168:G:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.107429169G>C, NC_000011.10:g.107429169G>T, NC_000011.9:g.107299895G>C, NC_000011.9:g.107299895G>T, XM_011542620.4:c.1063C>G, XM_011542620.4:c.1063C>A, XM_011542620.3:c.1063C>G, XM_011542620.3:c.1063C>A, XM_011542620.2:c.1063C>G, XM_011542620.2:c.1063C>A, XM_011542620.1:c.1063C>G, XM_011542620.1:c.1063C>A, NM_152434.3:c.1063C>G, NM_152434.3:c.1063C>A, NM_152434.2:c.1063C>G, NM_152434.2:c.1063C>A, XR_007062452.1:n.1072C>G, XR_007062452.1:n.1072C>A, XP_011540922.1:p.Gln355Glu, XP_011540922.1:p.Gln355Lys, NP_689647.2:p.Gln355Glu, NP_689647.2:p.Gln355Lys

Select item 147788838414.

rs1477888384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:107442975 (GRCh38)
11:107313701 (GRCh37)
Canonical SPDI:: NC_000011.10:107442974:A:G,NC_000011.10:107442974:A:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107442975A>G, NC_000011.10:g.107442975A>T, NC_000011.9:g.107313701A>G, NC_000011.9:g.107313701A>T, XM_011542620.4:c.414T>C, XM_011542620.4:c.414T>A, XM_011542620.3:c.414T>C, XM_011542620.3:c.414T>A, XM_011542620.2:c.414T>C, XM_011542620.2:c.414T>A, XM_011542620.1:c.414T>C, XM_011542620.1:c.414T>A, NM_152434.3:c.414T>C, NM_152434.3:c.414T>A, NM_152434.2:c.414T>C, NM_152434.2:c.414T>A, XR_007062452.1:n.423T>C, XR_007062452.1:n.423T>A, XP_011540922.1:p.Asp138Glu, NP_689647.2:p.Asp138Glu

Select item 147688976515.

rs1476889765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107454554 (GRCh38)
11:107325280 (GRCh37)
Canonical SPDI:: NC_000011.10:107454553:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107454554T>C, NC_000011.9:g.107325280T>C, XM_011542620.4:c.235A>G, XM_011542620.3:c.235A>G, XM_011542620.2:c.235A>G, XM_011542620.1:c.235A>G, NM_152434.3:c.235A>G, NM_152434.2:c.235A>G, XR_007062452.1:n.244A>G, XP_011540922.1:p.Lys79Glu, NP_689647.2:p.Lys79Glu

Select item 147527511416.

rs1475275114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107326995 (GRCh38)
11:107197721 (GRCh37)
Canonical SPDI:: NC_000011.10:107326994:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.107326995T>C, NC_000011.9:g.107197721T>C, NM_152434.3:c.2600A>G, NM_152434.2:c.2600A>G, XM_047426419.1:c.1172A>G, NP_689647.2:p.Glu867Gly, XP_047282375.1:p.Glu391Gly

Select item 147510119117.

rs1475101191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:107429255 (GRCh38)
11:107299981 (GRCh37)
Canonical SPDI:: NC_000011.10:107429254:T:A
Gene:: CWF19L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.107429255T>A, NC_000011.9:g.107299981T>A, XM_011542620.4:c.977A>T, XM_011542620.3:c.977A>T, XM_011542620.2:c.977A>T, XM_011542620.1:c.977A>T, NM_152434.3:c.977A>T, NM_152434.2:c.977A>T, XR_007062452.1:n.986A>T, XP_011540922.1:p.Asn326Ile, NP_689647.2:p.Asn326Ile

Select item 147435157818.

rs1474351578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107416279 (GRCh38)
11:107287005 (GRCh37)
Canonical SPDI:: NC_000011.10:107416278:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.107416279T>C, NC_000011.9:g.107287005T>C, NM_152434.3:c.1547A>G, NM_152434.2:c.1547A>G, XR_007062452.1:n.1556A>G, XM_047426419.1:c.119A>G, NP_689647.2:p.Lys516Arg, XP_047282375.1:p.Lys40Arg

Select item 147392858719.

rs1473928587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:107429336 (GRCh38)
11:107300062 (GRCh37)
Canonical SPDI:: NC_000011.10:107429335:C:T
Gene:: CWF19L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.107429336C>T, NC_000011.9:g.107300062C>T, XM_011542620.4:c.896G>A, XM_011542620.3:c.896G>A, XM_011542620.2:c.896G>A, XM_011542620.1:c.896G>A, NM_152434.3:c.896G>A, NM_152434.2:c.896G>A, XR_007062452.1:n.905G>A, XP_011540922.1:p.Cys299Tyr, NP_689647.2:p.Cys299Tyr

Select item 147284325720.

rs1472843257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:107326910 (GRCh38)
11:107197636 (GRCh37)
Canonical SPDI:: NC_000011.10:107326909:T:C
Gene:: CWF19L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_lost,terminator_codon_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.107326910T>C, NC_000011.9:g.107197636T>C, NM_152434.3:c.2685A>G, NM_152434.2:c.2685A>G, XM_047426419.1:c.1257A>G, NP_689647.2:p.Ter895Trp, XP_047282375.1:p.Ter419Trp

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