SNP Links for Nucleotide (Select 547235460) - SNP

Select item 14903905191.

rs1490390519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:55833041 (GRCh38)
15:56125239 (GRCh37)
Canonical SPDI:: NC_000015.10:55833040:G:A,NC_000015.10:55833040:G:T
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55833041G>A, NC_000015.10:g.55833041G>T, NC_000015.9:g.56125239G>A, NC_000015.9:g.56125239G>T, NG_051072.1:g.165706C>T, NG_051072.1:g.165706C>A, NM_006154.4:c.2494C>T, NM_006154.4:c.2494C>A, NM_006154.3:c.2494C>T, NM_006154.3:c.2494C>A, NM_006154.2:c.2494C>T, NM_006154.2:c.2494C>A, NM_198400.3:c.3535C>T, NM_198400.3:c.3535C>A, NM_198400.2:c.3535C>T, NM_198400.2:c.3535C>A, NM_001284338.2:c.3751C>T, NM_001284338.2:c.3751C>A, NM_001284338.1:c.3751C>T, NM_001284338.1:c.3751C>A, NR_104302.2:n.3822C>T, NR_104302.2:n.3822C>A, NR_104302.1:n.3817C>T, NR_104302.1:n.3817C>A, NM_001329212.2:c.2053C>T, NM_001329212.2:c.2053C>A, NM_001329212.1:c.2053C>T, NM_001329212.1:c.2053C>A, NM_001284339.1:c.3703C>T, NM_001284339.1:c.3703C>A, NM_001284340.1:c.3700C>T, NM_001284340.1:c.3700C>A, XM_011521625.4:c.2341C>T, XM_011521625.4:c.2341C>A, XM_011521625.3:c.2341C>T, XM_011521625.3:c.2341C>A, XM_011521625.2:c.2341C>T, XM_011521625.2:c.2341C>A, XM_011521625.1:c.2341C>T, XM_011521625.1:c.2341C>A, XM_011521624.4:c.2419C>T, XM_011521624.4:c.2419C>A, XM_011521624.3:c.2419C>T, XM_011521624.3:c.2419C>A, XM_011521624.2:c.2419C>T, XM_011521624.2:c.2419C>A, XM_011521624.1:c.2419C>T, XM_011521624.1:c.2419C>A, XM_011521626.2:c.2341C>T, XM_011521626.2:c.2341C>A, XM_011521626.1:c.2341C>T, XM_011521626.1:c.2341C>A, NP_006145.2:p.Arg832Trp, NP_940682.2:p.Arg1179Trp, NP_001271267.1:p.Arg1251Trp, NP_001316141.1:p.Arg685Trp, NP_001271268.1:p.Arg1235Trp, NP_001271269.1:p.Arg1234Trp, XP_011519927.1:p.Arg781Trp, XP_011519926.1:p.Arg807Trp, XP_011519928.1:p.Arg781Trp

Select item 14901641742.

rs1490164174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55917073 (GRCh38)
15:56209271 (GRCh37)
Canonical SPDI:: NC_000015.10:55917072:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55917073T>C, NC_000015.9:g.56209271T>C, NG_051072.1:g.81674A>G, NM_198400.3:c.-242A>G, NM_198400.2:c.-242A>G, NM_001284338.2:c.-242A>G, NM_001284338.1:c.-242A>G, NR_104302.2:n.64A>G, NR_104302.1:n.59A>G, NM_001284339.1:c.-242A>G, NM_001284340.1:c.-242A>G

Select item 14890615503.

rs1489061550 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 15:55827664 (GRCh38)
15:56119862 (GRCh37)
Canonical SPDI:: NC_000015.10:55827663:C:
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000214/3 (ALFA)
-=0.000068/18 (TOPMED)
-=0.0001/14 (GnomAD)
HGVS:: NC_000015.10:g.55827664del, NC_000015.9:g.56119862del, NG_051072.1:g.171083del, NM_006154.4:c.*2233del, NM_006154.3:c.*2233del, NM_006154.2:c.*2233del, NM_198400.3:c.*2233del, NM_198400.2:c.*2233del, NM_001284338.2:c.*2233del, NM_001284338.1:c.*2233del, NR_104302.2:n.6264del, NR_104302.1:n.6259del, NM_001329212.2:c.*2233del, NM_001329212.1:c.*2233del, NM_001284339.1:c.*2233del, NM_001284340.1:c.*2233del, XM_011521625.4:c.*2233del, XM_011521625.3:c.*2233del, XM_011521625.2:c.*2233del, XM_011521625.1:c.*2233del, XM_011521624.4:c.*2233del, XM_011521624.3:c.*2233del, XM_011521624.2:c.*2233del, XM_011521624.1:c.*2233del, XM_011521626.2:c.*2233del, XM_011521626.1:c.*2233del

Select item 14890608404.

rs1489060840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55916645 (GRCh38)
15:56208843 (GRCh37)
Canonical SPDI:: NC_000015.10:55916644:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55916645T>C, NC_000015.9:g.56208843T>C, NG_051072.1:g.82102A>G, NM_198400.3:c.187A>G, NM_198400.2:c.187A>G, NM_001284338.2:c.187A>G, NM_001284338.1:c.187A>G, NR_104302.2:n.492A>G, NR_104302.1:n.487A>G, NM_001284339.1:c.187A>G, NM_001284340.1:c.187A>G, NP_940682.2:p.Lys63Glu, NP_001271267.1:p.Lys63Glu, NP_001271268.1:p.Lys63Glu, NP_001271269.1:p.Lys63Glu

Select item 14887759695.

rs1488775969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:55915555 (GRCh38)
15:56207753 (GRCh37)
Canonical SPDI:: NC_000015.10:55915554:G:A,NC_000015.10:55915554:G:C
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55915555G>A, NC_000015.10:g.55915555G>C, NC_000015.9:g.56207753G>A, NC_000015.9:g.56207753G>C, NG_051072.1:g.83192C>T, NG_051072.1:g.83192C>G, NM_198400.3:c.1277C>T, NM_198400.3:c.1277C>G, NM_198400.2:c.1277C>T, NM_198400.2:c.1277C>G, NM_001284338.2:c.1277C>T, NM_001284338.2:c.1277C>G, NM_001284338.1:c.1277C>T, NM_001284338.1:c.1277C>G, NR_104302.2:n.1582C>T, NR_104302.2:n.1582C>G, NR_104302.1:n.1577C>T, NR_104302.1:n.1577C>G, NM_001284339.1:c.1277C>T, NM_001284339.1:c.1277C>G, NM_001284340.1:c.1277C>T, NM_001284340.1:c.1277C>G, NP_940682.2:p.Ser426Phe, NP_940682.2:p.Ser426Cys, NP_001271267.1:p.Ser426Phe, NP_001271267.1:p.Ser426Cys, NP_001271268.1:p.Ser426Phe, NP_001271268.1:p.Ser426Cys, NP_001271269.1:p.Ser426Phe, NP_001271269.1:p.Ser426Cys

Select item 14881385156.

rs1488138515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55916670 (GRCh38)
15:56208868 (GRCh37)
Canonical SPDI:: NC_000015.10:55916669:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55916670T>C, NC_000015.9:g.56208868T>C, NG_051072.1:g.82077A>G, NM_198400.3:c.162A>G, NM_198400.2:c.162A>G, NM_001284338.2:c.162A>G, NM_001284338.1:c.162A>G, NR_104302.2:n.467A>G, NR_104302.1:n.462A>G, NM_001284339.1:c.162A>G, NM_001284340.1:c.162A>G

Select item 14881138737.

rs1488113873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55828983 (GRCh38)
15:56121181 (GRCh37)
Canonical SPDI:: NC_000015.10:55828982:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55828983T>C, NC_000015.9:g.56121181T>C, NG_051072.1:g.169764A>G, NM_006154.4:c.*914A>G, NM_006154.3:c.*914A>G, NM_006154.2:c.*914A>G, NM_198400.3:c.*914A>G, NM_198400.2:c.*914A>G, NM_001284338.2:c.*914A>G, NM_001284338.1:c.*914A>G, NR_104302.2:n.4945A>G, NR_104302.1:n.4940A>G, NM_001329212.2:c.*914A>G, NM_001329212.1:c.*914A>G, NM_001284339.1:c.*914A>G, NM_001284340.1:c.*914A>G, XM_011521625.4:c.*914A>G, XM_011521625.3:c.*914A>G, XM_011521625.2:c.*914A>G, XM_011521625.1:c.*914A>G, XM_011521624.4:c.*914A>G, XM_011521624.3:c.*914A>G, XM_011521624.2:c.*914A>G, XM_011521624.1:c.*914A>G, XM_011521626.2:c.*914A>G, XM_011521626.1:c.*914A>G

Select item 14880722358.

rs1488072235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55828972 (GRCh38)
15:56121170 (GRCh37)
Canonical SPDI:: NC_000015.10:55828971:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00103/3 (KOREAN)
HGVS:: NC_000015.10:g.55828972T>C, NC_000015.9:g.56121170T>C, NG_051072.1:g.169775A>G, NM_006154.4:c.*925A>G, NM_006154.3:c.*925A>G, NM_006154.2:c.*925A>G, NM_198400.3:c.*925A>G, NM_198400.2:c.*925A>G, NM_001284338.2:c.*925A>G, NM_001284338.1:c.*925A>G, NR_104302.2:n.4956A>G, NR_104302.1:n.4951A>G, NM_001329212.2:c.*925A>G, NM_001329212.1:c.*925A>G, NM_001284339.1:c.*925A>G, NM_001284340.1:c.*925A>G, XM_011521625.4:c.*925A>G, XM_011521625.3:c.*925A>G, XM_011521625.2:c.*925A>G, XM_011521625.1:c.*925A>G, XM_011521624.4:c.*925A>G, XM_011521624.3:c.*925A>G, XM_011521624.2:c.*925A>G, XM_011521624.1:c.*925A>G, XM_011521626.2:c.*925A>G, XM_011521626.1:c.*925A>G

Select item 14876586199.

rs1487658619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55848884 (GRCh38)
15:56141082 (GRCh37)
Canonical SPDI:: NC_000015.10:55848883:T:C
Gene:: NEDD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.55848884T>C, NC_000015.9:g.56141082T>C, NG_051072.1:g.149863A>G, NM_006154.4:c.1350A>G, NM_006154.3:c.1350A>G, NM_006154.2:c.1350A>G, NM_198400.3:c.2391A>G, NM_198400.2:c.2391A>G, NM_001284338.2:c.2607A>G, NM_001284338.1:c.2607A>G, NR_104302.2:n.2799A>G, NR_104302.1:n.2794A>G, NM_001329212.2:c.909A>G, NM_001329212.1:c.909A>G, NM_001284339.1:c.2559A>G, NM_001284340.1:c.2556A>G, XM_011521625.4:c.1197A>G, XM_011521625.3:c.1197A>G, XM_011521625.2:c.1197A>G, XM_011521625.1:c.1197A>G, XM_011521624.4:c.1275A>G, XM_011521624.3:c.1275A>G, XM_011521624.2:c.1275A>G, XM_011521624.1:c.1275A>G, XM_011521626.2:c.1197A>G, XM_011521626.1:c.1197A>G

Select item 148746596410.

rs1487465964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55916906 (GRCh38)
15:56209104 (GRCh37)
Canonical SPDI:: NC_000015.10:55916905:G:A
Gene:: NEDD4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55916906G>A, NC_000015.9:g.56209104G>A, NG_051072.1:g.81841C>T, NM_198400.3:c.-75C>T, NM_198400.2:c.-75C>T, NM_001284338.2:c.-75C>T, NM_001284338.1:c.-75C>T, NR_104302.2:n.231C>T, NR_104302.1:n.226C>T, NM_001284339.1:c.-75C>T, NM_001284340.1:c.-75C>T

Select item 148698559311.

rs1486985593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55828449 (GRCh38)
15:56120647 (GRCh37)
Canonical SPDI:: NC_000015.10:55828448:A:G
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000114/16 (GnomAD)
G=0.000196/52 (TOPMED)
HGVS:: NC_000015.10:g.55828449A>G, NC_000015.9:g.56120647A>G, NG_051072.1:g.170298T>C, NM_006154.4:c.*1448T>C, NM_006154.3:c.*1448T>C, NM_006154.2:c.*1448T>C, NM_198400.3:c.*1448T>C, NM_198400.2:c.*1448T>C, NM_001284338.2:c.*1448T>C, NM_001284338.1:c.*1448T>C, NR_104302.2:n.5479T>C, NR_104302.1:n.5474T>C, NM_001329212.2:c.*1448T>C, NM_001329212.1:c.*1448T>C, NM_001284339.1:c.*1448T>C, NM_001284340.1:c.*1448T>C, XM_011521625.4:c.*1448T>C, XM_011521625.3:c.*1448T>C, XM_011521625.2:c.*1448T>C, XM_011521625.1:c.*1448T>C, XM_011521624.4:c.*1448T>C, XM_011521624.3:c.*1448T>C, XM_011521624.2:c.*1448T>C, XM_011521624.1:c.*1448T>C, XM_011521626.2:c.*1448T>C, XM_011521626.1:c.*1448T>C

Select item 148666343412.

rs1486663434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:55850651 (GRCh38)
15:56142849 (GRCh37)
Canonical SPDI:: NC_000015.10:55850650:G:T
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000015.10:g.55850651G>T, NC_000015.9:g.56142849G>T, NG_051072.1:g.148096C>A, NM_006154.4:c.1238C>A, NM_006154.3:c.1238C>A, NM_006154.2:c.1238C>A, NM_198400.3:c.2279C>A, NM_198400.2:c.2279C>A, NM_001284338.2:c.2495C>A, NM_001284338.1:c.2495C>A, NR_104302.2:n.2687C>A, NR_104302.1:n.2682C>A, NM_001329212.2:c.797C>A, NM_001329212.1:c.797C>A, NM_001284339.1:c.2447C>A, NM_001284340.1:c.2444C>A, XM_011521625.4:c.1085C>A, XM_011521625.3:c.1085C>A, XM_011521625.2:c.1085C>A, XM_011521625.1:c.1085C>A, XM_011521624.4:c.1163C>A, XM_011521624.3:c.1163C>A, XM_011521624.2:c.1163C>A, XM_011521624.1:c.1163C>A, XM_011521626.2:c.1085C>A, XM_011521626.1:c.1085C>A, NP_006145.2:p.Thr413Asn, NP_940682.2:p.Thr760Asn, NP_001271267.1:p.Thr832Asn, NP_001316141.1:p.Thr266Asn, NP_001271268.1:p.Thr816Asn, NP_001271269.1:p.Thr815Asn, XP_011519927.1:p.Thr362Asn, XP_011519926.1:p.Thr388Asn, XP_011519928.1:p.Thr362Asn

Select item 148644366913.

rs1486443669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55828604 (GRCh38)
15:56120802 (GRCh37)
Canonical SPDI:: NC_000015.10:55828603:A:G
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.00092/15 (TOMMO)
G=0.001711/5 (KOREAN)
G=0.002183/4 (Korea1K)
HGVS:: NC_000015.10:g.55828604A>G, NC_000015.9:g.56120802A>G, NG_051072.1:g.170143T>C, NM_006154.4:c.*1293T>C, NM_006154.3:c.*1293T>C, NM_006154.2:c.*1293T>C, NM_198400.3:c.*1293T>C, NM_198400.2:c.*1293T>C, NM_001284338.2:c.*1293T>C, NM_001284338.1:c.*1293T>C, NR_104302.2:n.5324T>C, NR_104302.1:n.5319T>C, NM_001329212.2:c.*1293T>C, NM_001329212.1:c.*1293T>C, NM_001284339.1:c.*1293T>C, NM_001284340.1:c.*1293T>C, XM_011521625.4:c.*1293T>C, XM_011521625.3:c.*1293T>C, XM_011521625.2:c.*1293T>C, XM_011521625.1:c.*1293T>C, XM_011521624.4:c.*1293T>C, XM_011521624.3:c.*1293T>C, XM_011521624.2:c.*1293T>C, XM_011521624.1:c.*1293T>C, XM_011521626.2:c.*1293T>C, XM_011521626.1:c.*1293T>C

Select item 148633325814.

rs1486333258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:55827258 (GRCh38)
15:56119456 (GRCh37)
Canonical SPDI:: NC_000015.10:55827257:A:C
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55827258A>C, NC_000015.9:g.56119456A>C, NG_051072.1:g.171489T>G, NM_006154.4:c.*2639T>G, NM_006154.3:c.*2639T>G, NM_006154.2:c.*2639T>G, NM_198400.3:c.*2639T>G, NM_198400.2:c.*2639T>G, NM_001284338.2:c.*2639T>G, NM_001284338.1:c.*2639T>G, NR_104302.2:n.6670T>G, NR_104302.1:n.6665T>G, NM_001329212.2:c.*2639T>G, NM_001329212.1:c.*2639T>G, NM_001284339.1:c.*2639T>G, NM_001284340.1:c.*2639T>G, XM_011521625.4:c.*2639T>G, XM_011521625.3:c.*2639T>G, XM_011521625.2:c.*2639T>G, XM_011521625.1:c.*2639T>G, XM_011521624.4:c.*2639T>G, XM_011521624.3:c.*2639T>G, XM_011521624.2:c.*2639T>G, XM_011521624.1:c.*2639T>G, XM_011521626.2:c.*2639T>G, XM_011521626.1:c.*2639T>G

Select item 148569069115.

rs1485690691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55827171 (GRCh38)
15:56119369 (GRCh37)
Canonical SPDI:: NC_000015.10:55827170:G:A
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55827171G>A, NC_000015.9:g.56119369G>A, NG_051072.1:g.171576C>T, NM_006154.4:c.*2726C>T, NM_006154.3:c.*2726C>T, NM_006154.2:c.*2726C>T, NM_198400.3:c.*2726C>T, NM_198400.2:c.*2726C>T, NM_001284338.2:c.*2726C>T, NM_001284338.1:c.*2726C>T, NR_104302.2:n.6757C>T, NR_104302.1:n.6752C>T, NM_001329212.2:c.*2726C>T, NM_001329212.1:c.*2726C>T, NM_001284339.1:c.*2726C>T, NM_001284340.1:c.*2726C>T, XM_011521625.4:c.*2726C>T, XM_011521625.3:c.*2726C>T, XM_011521625.2:c.*2726C>T, XM_011521625.1:c.*2726C>T, XM_011521624.4:c.*2726C>T, XM_011521624.3:c.*2726C>T, XM_011521624.2:c.*2726C>T, XM_011521624.1:c.*2726C>T, XM_011521626.2:c.*2726C>T, XM_011521626.1:c.*2726C>T

Select item 148491419916.

rs1484914199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55837805 (GRCh38)
15:56130003 (GRCh37)
Canonical SPDI:: NC_000015.10:55837804:A:G
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55837805A>G, NC_000015.9:g.56130003A>G, NG_051072.1:g.160942T>C, NM_006154.4:c.2246T>C, NM_006154.3:c.2246T>C, NM_006154.2:c.2246T>C, NM_198400.3:c.3287T>C, NM_198400.2:c.3287T>C, NM_001284338.2:c.3503T>C, NM_001284338.1:c.3503T>C, NM_001329212.2:c.1805T>C, NM_001329212.1:c.1805T>C, NM_001284339.1:c.3455T>C, NM_001284340.1:c.3452T>C, XM_011521625.4:c.2093T>C, XM_011521625.3:c.2093T>C, XM_011521625.2:c.2093T>C, XM_011521625.1:c.2093T>C, XM_011521624.4:c.2171T>C, XM_011521624.3:c.2171T>C, XM_011521624.2:c.2171T>C, XM_011521624.1:c.2171T>C, XM_011521626.2:c.2093T>C, XM_011521626.1:c.2093T>C, NP_006145.2:p.Met749Thr, NP_940682.2:p.Met1096Thr, NP_001271267.1:p.Met1168Thr, NP_001316141.1:p.Met602Thr, NP_001271268.1:p.Met1152Thr, NP_001271269.1:p.Met1151Thr, XP_011519927.1:p.Met698Thr, XP_011519926.1:p.Met724Thr, XP_011519928.1:p.Met698Thr

Select item 148481180417.

rs1484811804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:55827993 (GRCh38)
15:56120191 (GRCh37)
Canonical SPDI:: NC_000015.10:55827992:A:T
Gene:: NEDD4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000015.10:g.55827993A>T, NC_000015.9:g.56120191A>T, NG_051072.1:g.170754T>A, NM_006154.4:c.*1904T>A, NM_006154.3:c.*1904T>A, NM_006154.2:c.*1904T>A, NM_198400.3:c.*1904T>A, NM_198400.2:c.*1904T>A, NM_001284338.2:c.*1904T>A, NM_001284338.1:c.*1904T>A, NR_104302.2:n.5935T>A, NR_104302.1:n.5930T>A, NM_001329212.2:c.*1904T>A, NM_001329212.1:c.*1904T>A, NM_001284339.1:c.*1904T>A, NM_001284340.1:c.*1904T>A, XM_011521625.4:c.*1904T>A, XM_011521625.3:c.*1904T>A, XM_011521625.2:c.*1904T>A, XM_011521625.1:c.*1904T>A, XM_011521624.4:c.*1904T>A, XM_011521624.3:c.*1904T>A, XM_011521624.2:c.*1904T>A, XM_011521624.1:c.*1904T>A, XM_011521626.2:c.*1904T>A, XM_011521626.1:c.*1904T>A

Select item 148408938618.

rs1484089386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55916178 (GRCh38)
15:56208376 (GRCh37)
Canonical SPDI:: NC_000015.10:55916177:G:A
Gene:: NEDD4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55916178G>A, NC_000015.9:g.56208376G>A, NG_051072.1:g.82569C>T, NM_198400.3:c.654C>T, NM_198400.2:c.654C>T, NM_001284338.2:c.654C>T, NM_001284338.1:c.654C>T, NR_104302.2:n.959C>T, NR_104302.1:n.954C>T, NM_001284339.1:c.654C>T, NM_001284340.1:c.654C>T

Select item 148381779519.

rs1483817795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55829930 (GRCh38)
15:56122128 (GRCh37)
Canonical SPDI:: NC_000015.10:55829929:A:G
Gene:: NEDD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55829930A>G, NC_000015.9:g.56122128A>G, NG_051072.1:g.168817T>C, NM_006154.4:c.2670T>C, NM_006154.3:c.2670T>C, NM_006154.2:c.2670T>C, NM_198400.3:c.3711T>C, NM_198400.2:c.3711T>C, NM_001284338.2:c.3927T>C, NM_001284338.1:c.3927T>C, NR_104302.2:n.3998T>C, NR_104302.1:n.3993T>C, NM_001329212.2:c.2229T>C, NM_001329212.1:c.2229T>C, NM_001284339.1:c.3879T>C, NM_001284340.1:c.3876T>C, XM_011521625.4:c.2517T>C, XM_011521625.3:c.2517T>C, XM_011521625.2:c.2517T>C, XM_011521625.1:c.2517T>C, XM_011521624.4:c.2595T>C, XM_011521624.3:c.2595T>C, XM_011521624.2:c.2595T>C, XM_011521624.1:c.2595T>C, XM_011521626.2:c.2517T>C, XM_011521626.1:c.2517T>C

Select item 148361265420.

rs1483612654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:55848430 (GRCh38)
15:56140628 (GRCh37)
Canonical SPDI:: NC_000015.10:55848429:T:G
Gene:: NEDD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55848430T>G, NC_000015.9:g.56140628T>G, NG_051072.1:g.150317A>C, NM_006154.4:c.1484A>C, NM_006154.3:c.1484A>C, NM_006154.2:c.1484A>C, NM_198400.3:c.2525A>C, NM_198400.2:c.2525A>C, NM_001284338.2:c.2741A>C, NM_001284338.1:c.2741A>C, NR_104302.2:n.2933A>C, NR_104302.1:n.2928A>C, NM_001329212.2:c.1043A>C, NM_001329212.1:c.1043A>C, NM_001284339.1:c.2693A>C, NM_001284340.1:c.2690A>C, XM_011521625.4:c.1331A>C, XM_011521625.3:c.1331A>C, XM_011521625.2:c.1331A>C, XM_011521625.1:c.1331A>C, XM_011521624.4:c.1409A>C, XM_011521624.3:c.1409A>C, XM_011521624.2:c.1409A>C, XM_011521624.1:c.1409A>C, XM_011521626.2:c.1331A>C, XM_011521626.1:c.1331A>C, NP_006145.2:p.Asn495Thr, NP_940682.2:p.Asn842Thr, NP_001271267.1:p.Asn914Thr, NP_001316141.1:p.Asn348Thr, NP_001271268.1:p.Asn898Thr, NP_001271269.1:p.Asn897Thr, XP_011519927.1:p.Asn444Thr, XP_011519926.1:p.Asn470Thr, XP_011519928.1:p.Asn444Thr

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