Links from Gene
Items: 1 to 20 of 742
1.
rs1489823790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:69932165
(GRCh38)
16:69966068
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69932164:A:G
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488291496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69933129
(GRCh38)
16:69967032
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933128:C:T
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(Korea1K)
T=0.000005/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1488260039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:69931754
(GRCh38)
16:69965657
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931753:G:A,NC_000016.10:69931753:G:C
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000012/3
(GnomAD_exomes)
A=0.000035/1
(TOMMO)
- HGVS:
4.
rs1487907903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69933193
(GRCh38)
16:69967096
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933192:G:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1487384539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69931823
(GRCh38)
16:69965726
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931822:G:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- HGVS:
NC_000016.10:g.69931823G>A, NC_000016.9:g.69965726G>A, NM_007014.5:c.1615G>A, NM_007014.4:c.1615G>A, XM_011522826.4:c.1267G>A, XM_011522826.3:c.1267G>A, XM_011522826.2:c.1267G>A, XM_011522826.1:c.1267G>A, XM_011522823.3:c.1615G>A, XM_011522823.2:c.1615G>A, XM_011522823.1:c.1615G>A, NM_199424.3:c.298G>A, NM_199424.2:c.298G>A, XM_017022879.2:c.1615G>A, XM_017022879.1:c.1615G>A, XM_017022881.2:c.1615G>A, XM_017022881.1:c.1615G>A, XM_017022880.2:c.1615G>A, XM_017022880.1:c.1615G>A, NM_001270454.2:c.1615G>A, NM_001270454.1:c.1615G>A, XM_011522825.2:c.1615G>A, XM_011522825.1:c.1615G>A, NM_001270453.2:c.1267G>A, NM_001270453.1:c.1267G>A, XM_047433520.1:c.1615G>A, XM_047433522.1:c.1615G>A, XM_047433523.1:c.1615G>A, XM_047433521.1:c.1615G>A, XM_047433524.1:c.1267G>A, NP_008945.2:p.Asp539Asn, XP_011521128.1:p.Asp423Asn, XP_011521125.1:p.Asp539Asn, NP_955456.1:p.Asp100Asn, XP_016878368.1:p.Asp539Asn, XP_016878370.1:p.Asp539Asn, XP_016878369.1:p.Asp539Asn, NP_001257383.1:p.Asp539Asn, XP_011521127.1:p.Asp539Asn, NP_001257382.1:p.Asp423Asn, XP_047289476.1:p.Asp539Asn, XP_047289478.1:p.Asp539Asn, XP_047289479.1:p.Asp539Asn, XP_047289477.1:p.Asp539Asn, XP_047289480.1:p.Asp423Asn
6.
rs1487323008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69931376
(GRCh38)
16:69965279
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931375:G:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000034/9
(TOPMED)
- HGVS:
7.
rs1487311157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69931759
(GRCh38)
16:69965662
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931758:G:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1487042189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:69933298
(GRCh38)
16:69967201
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933297:T:C
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484304829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:69932992
(GRCh38)
16:69966895
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69932991:C:G
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1483633669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAAA>-
[Show Flanks]
- Chromosome:
- 16:69932353
(GRCh38)
16:69966256
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69932349:AAACAAA:AAA
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
11.
rs1482621218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:69931469
(GRCh38)
16:69965372
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931468:T:C
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1481197274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:69931899
(GRCh38)
16:69965802
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931898:G:C
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1480326869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:69932684
(GRCh38)
16:69966587
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69932683:G:T
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1480304464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69932269
(GRCh38)
16:69966172
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69932268:G:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1479243967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:69931450
(GRCh38)
16:69965353
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931449:A:G
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1479017202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:69931635
(GRCh38)
16:69965538
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931634:C:G
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1478122284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:69933049
(GRCh38)
16:69966952
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933048:T:C
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000051/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000011/2
(GnomAD_exomes)
- HGVS:
18.
rs1477409800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 16:69933133
(GRCh38)
16:69967036
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933132:A:C,NC_000016.10:69933132:A:G
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000005/1
(GnomAD_exomes)
- HGVS:
19.
rs1477186513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69931192
(GRCh38)
16:69965095
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69931191:C:T
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.69931192C>T, NC_000016.9:g.69965095C>T, NM_007014.5:c.1486C>T, NM_007014.4:c.1486C>T, XM_011522826.4:c.1138C>T, XM_011522826.3:c.1138C>T, XM_011522826.2:c.1138C>T, XM_011522826.1:c.1138C>T, XM_011522823.3:c.1486C>T, XM_011522823.2:c.1486C>T, XM_011522823.1:c.1486C>T, NM_199424.3:c.169C>T, NM_199424.2:c.169C>T, XM_017022879.2:c.1486C>T, XM_017022879.1:c.1486C>T, XM_017022881.2:c.1486C>T, XM_017022881.1:c.1486C>T, XM_017022880.2:c.1486C>T, XM_017022880.1:c.1486C>T, NM_001270454.2:c.1486C>T, NM_001270454.1:c.1486C>T, XM_011522825.2:c.1486C>T, XM_011522825.1:c.1486C>T, NM_001270453.2:c.1138C>T, NM_001270453.1:c.1138C>T, XM_047433520.1:c.1486C>T, XM_047433522.1:c.1486C>T, XM_047433523.1:c.1486C>T, XM_047433521.1:c.1486C>T, XM_047433524.1:c.1138C>T, NP_008945.2:p.Arg496Trp, XP_011521128.1:p.Arg380Trp, XP_011521125.1:p.Arg496Trp, NP_955456.1:p.Arg57Trp, XP_016878368.1:p.Arg496Trp, XP_016878370.1:p.Arg496Trp, XP_016878369.1:p.Arg496Trp, NP_001257383.1:p.Arg496Trp, XP_011521127.1:p.Arg496Trp, NP_001257382.1:p.Arg380Trp, XP_047289476.1:p.Arg496Trp, XP_047289478.1:p.Arg496Trp, XP_047289479.1:p.Arg496Trp, XP_047289477.1:p.Arg496Trp, XP_047289480.1:p.Arg380Trp
20.
rs1477030541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:69933466
(GRCh38)
16:69967369
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69933465:T:A
- Gene:
- WWP2 (Varview), MIR140 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: