SNP Links for Protein (Select 13435364) - SNP

Links from Protein

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Select item 14909799361.

rs1490979936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:31082936 (GRCh38)
18:28662902 (GRCh37)
Canonical SPDI:: NC_000018.10:31082935:G:A
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.31082936G>A, NC_000018.9:g.28662902G>A, NG_008208.2:g.24490C>T, NM_024422.6:c.1067C>T, NM_024422.5:c.1067C>T, NM_024422.4:c.1067C>T, NM_024422.3:c.1067C>T, NM_004949.5:c.1067C>T, NM_004949.4:c.1067C>T, NM_004949.3:c.1067C>T, XM_005258206.5:c.638C>T, NM_001406507.1:c.638C>T, NM_001406506.1:c.638C>T, NP_077740.1:p.Thr356Ile, NP_004940.1:p.Thr356Ile, XP_005258263.1:p.Thr213Ile

Select item 14884037502.

rs1488403750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:31092236 (GRCh38)
18:28672199 (GRCh37)
Canonical SPDI:: NC_000018.10:31092235:A:T
Gene:: DSC2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31092236A>T, NC_000018.9:g.28672199A>T, NG_008208.2:g.15190T>A, NM_024422.6:c.219T>A, NM_024422.5:c.219T>A, NM_024422.4:c.219T>A, NM_024422.3:c.219T>A, NM_004949.5:c.219T>A, NM_004949.4:c.219T>A, NM_004949.3:c.219T>A, XM_005258206.5:c.-211T>A, NM_001406507.1:c.-211T>A, NM_001406506.1:c.-211T>A

Select item 14865549473.

rs1486554947 [Homo sapiens]

Variant type:: DEL
Alleles:: ATCCTTG>- [Show Flanks]
Chromosome:: 18:31071676 (GRCh38)
18:28651642 (GRCh37)
Canonical SPDI:: NC_000018.10:31071675:ATCCTTG:
Gene:: DSC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0013/6 (ALFA)
-=0.0011/2 (Korea1K)
HGVS:: NC_000018.10:g.31071676_31071682del, NC_000018.9:g.28651642_28651648del, NG_008208.2:g.35744_35750del, NM_024422.6:c.2048_2054del, NM_024422.5:c.2048_2054del, NM_024422.4:c.2048_2054del, NM_024422.3:c.2048_2054del, NM_004949.5:c.2048_2054del, NM_004949.4:c.2048_2054del, NM_004949.3:c.2048_2054del, XM_005258206.5:c.1619_1625del, NM_001406507.1:c.1619_1625del, NM_001406506.1:c.1619_1625del, NP_077740.1:p.Pro683fs, NP_004940.1:p.Pro683fs, XP_005258263.1:p.Pro540fs

Select item 14862853974.

rs1486285397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:31080233 (GRCh38)
18:28660199 (GRCh37)
Canonical SPDI:: NC_000018.10:31080232:A:G
Gene:: DSC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31080233A>G, NC_000018.9:g.28660199A>G, NG_008208.2:g.27193T>C, NM_024422.6:c.1383T>C, NM_024422.5:c.1383T>C, NM_024422.4:c.1383T>C, NM_024422.3:c.1383T>C, NM_004949.5:c.1383T>C, NM_004949.4:c.1383T>C, NM_004949.3:c.1383T>C, XM_005258206.5:c.954T>C, NM_001406507.1:c.954T>C, NM_001406506.1:c.954T>C

Select item 14859396085.

rs1485939608 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 18:31079874 (GRCh38)
18:28659840 (GRCh37)
Canonical SPDI:: NC_000018.10:31079870:TATTAT:TAT
Gene:: DSC2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31079871TAT[1], NC_000018.9:g.28659837TAT[1], NG_008208.2:g.27550ATA[1], NM_024422.6:c.1634ATA[1], NM_024422.5:c.1634ATA[1], NM_024422.4:c.1634ATA[1], NM_024422.3:c.1634ATA[1], NM_004949.5:c.1634ATA[1], NM_004949.4:c.1634ATA[1], NM_004949.3:c.1634ATA[1], XM_005258206.5:c.1205ATA[1], NM_001406507.1:c.1205ATA[1], NM_001406506.1:c.1205ATA[1], NP_077740.1:p.Asn546del, NP_004940.1:p.Asn546del, XP_005258263.1:p.Asn403del

Select item 14844280416.

rs1484428041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:31087683 (GRCh38)
18:28667646 (GRCh37)
Canonical SPDI:: NC_000018.10:31087682:T:C
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31087683T>C, NC_000018.9:g.28667646T>C, NG_008208.2:g.19743A>G, NM_024422.6:c.761A>G, NM_024422.5:c.761A>G, NM_024422.4:c.761A>G, NM_024422.3:c.761A>G, NM_004949.5:c.761A>G, NM_004949.4:c.761A>G, NM_004949.3:c.761A>G, XM_005258206.5:c.332A>G, NM_001406507.1:c.332A>G, NM_001406506.1:c.332A>G, NP_077740.1:p.Glu254Gly, NP_004940.1:p.Glu254Gly, XP_005258263.1:p.Glu111Gly

Select item 14840939177.

rs1484093917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:31089561 (GRCh38)
18:28669524 (GRCh37)
Canonical SPDI:: NC_000018.10:31089560:A:G
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31089561A>G, NC_000018.9:g.28669524A>G, NG_008208.2:g.17865T>C, NM_024422.6:c.508T>C, NM_024422.5:c.508T>C, NM_024422.4:c.508T>C, NM_024422.3:c.508T>C, NM_004949.5:c.508T>C, NM_004949.4:c.508T>C, NM_004949.3:c.508T>C, XM_005258206.5:c.79T>C, NM_001406507.1:c.79T>C, NM_001406506.1:c.79T>C, NP_077740.1:p.Tyr170His, NP_004940.1:p.Tyr170His, XP_005258263.1:p.Tyr27His

Select item 14840705828.

rs1484070582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:31092146 (GRCh38)
18:28672109 (GRCh37)
Canonical SPDI:: NC_000018.10:31092145:G:T
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.31092146G>T, NC_000018.9:g.28672109G>T, NG_008208.2:g.15280C>A, NM_024422.6:c.309C>A, NM_024422.5:c.309C>A, NM_024422.4:c.309C>A, NM_024422.3:c.309C>A, NM_004949.5:c.309C>A, NM_004949.4:c.309C>A, NM_004949.3:c.309C>A, XM_005258206.5:c.-121C>A, NM_001406507.1:c.-121C>A, NM_001406506.1:c.-121C>A, NP_077740.1:p.Asn103Lys, NP_004940.1:p.Asn103Lys

Select item 14840627489.

rs1484062748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:31093568 (GRCh38)
18:28673531 (GRCh37)
Canonical SPDI:: NC_000018.10:31093567:C:A
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31093568C>A, NC_000018.9:g.28673531C>A, NG_008208.2:g.13858G>T, NM_024422.6:c.145G>T, NM_024422.5:c.145G>T, NM_024422.4:c.145G>T, NM_024422.3:c.145G>T, NM_004949.5:c.145G>T, NM_004949.4:c.145G>T, NM_004949.3:c.145G>T, XM_005258206.5:c.-285G>T, NM_001406507.1:c.-285G>T, NM_001406506.1:c.-285G>T, NP_077740.1:p.Val49Phe, NP_004940.1:p.Val49Phe

Select item 148338373710.

rs1483383737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:31071710 (GRCh38)
18:28651676 (GRCh37)
Canonical SPDI:: NC_000018.10:31071709:C:T
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.31071710C>T, NC_000018.9:g.28651676C>T, NG_008208.2:g.35716G>A, NM_024422.6:c.2020G>A, NM_024422.5:c.2020G>A, NM_024422.4:c.2020G>A, NM_024422.3:c.2020G>A, NM_004949.5:c.2020G>A, NM_004949.4:c.2020G>A, NM_004949.3:c.2020G>A, XM_005258206.5:c.1591G>A, NM_001406507.1:c.1591G>A, NM_001406506.1:c.1591G>A, NP_077740.1:p.Glu674Lys, NP_004940.1:p.Glu674Lys, XP_005258263.1:p.Glu531Lys

Select item 148172406411.

rs1481724064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:31083044 (GRCh38)
18:28663010 (GRCh37)
Canonical SPDI:: NC_000018.10:31083043:T:G
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.31083044T>G, NC_000018.9:g.28663010T>G, NG_008208.2:g.24382A>C, NM_024422.6:c.959A>C, NM_024422.5:c.959A>C, NM_024422.4:c.959A>C, NM_024422.3:c.959A>C, NM_004949.5:c.959A>C, NM_004949.4:c.959A>C, NM_004949.3:c.959A>C, XM_005258206.5:c.530A>C, NM_001406507.1:c.530A>C, NM_001406506.1:c.530A>C, NP_077740.1:p.Gln320Pro, NP_004940.1:p.Gln320Pro, XP_005258263.1:p.Gln177Pro

Select item 148034539212.

rs1480345392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:31091053 (GRCh38)
18:28671016 (GRCh37)
Canonical SPDI:: NC_000018.10:31091052:C:G,NC_000018.10:31091052:C:T
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000018.10:g.31091053C>G, NC_000018.10:g.31091053C>T, NC_000018.9:g.28671016C>G, NC_000018.9:g.28671016C>T, NG_008208.2:g.16373G>C, NG_008208.2:g.16373G>A, NM_024422.6:c.449G>C, NM_024422.6:c.449G>A, NM_024422.5:c.449G>C, NM_024422.5:c.449G>A, NM_024422.4:c.449G>C, NM_024422.4:c.449G>A, NM_024422.3:c.449G>C, NM_024422.3:c.449G>A, NM_004949.5:c.449G>C, NM_004949.5:c.449G>A, NM_004949.4:c.449G>C, NM_004949.4:c.449G>A, NM_004949.3:c.449G>C, NM_004949.3:c.449G>A, XM_005258206.5:c.20G>C, XM_005258206.5:c.20G>A, NM_001406507.1:c.20G>C, NM_001406507.1:c.20G>A, NM_001406506.1:c.20G>C, NM_001406506.1:c.20G>A, NP_077740.1:p.Gly150Ala, NP_077740.1:p.Gly150Asp, NP_004940.1:p.Gly150Ala, NP_004940.1:p.Gly150Asp, XP_005258263.1:p.Gly7Ala, XP_005258263.1:p.Gly7Asp

Select item 148021363513.

rs1480213635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:31082272 (GRCh38)
18:28662238 (GRCh37)
Canonical SPDI:: NC_000018.10:31082271:G:A
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31082272G>A, NC_000018.9:g.28662238G>A, NG_008208.2:g.25154C>T, NM_024422.6:c.1229C>T, NM_024422.5:c.1229C>T, NM_024422.4:c.1229C>T, NM_024422.3:c.1229C>T, NM_004949.5:c.1229C>T, NM_004949.4:c.1229C>T, NM_004949.3:c.1229C>T, XM_005258206.5:c.800C>T, NM_001406507.1:c.800C>T, NM_001406506.1:c.800C>T, NP_077740.1:p.Ala410Val, NP_004940.1:p.Ala410Val, XP_005258263.1:p.Ala267Val

Select item 147991204014.

rs1479912040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:31089464 (GRCh38)
18:28669427 (GRCh37)
Canonical SPDI:: NC_000018.10:31089463:T:A
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31089464T>A, NC_000018.9:g.28669427T>A, NG_008208.2:g.17962A>T, NM_024422.6:c.605A>T, NM_024422.5:c.605A>T, NM_024422.4:c.605A>T, NM_024422.3:c.605A>T, NM_004949.5:c.605A>T, NM_004949.4:c.605A>T, NM_004949.3:c.605A>T, XM_005258206.5:c.176A>T, NM_001406507.1:c.176A>T, NM_001406506.1:c.176A>T, NP_077740.1:p.Asp202Val, NP_004940.1:p.Asp202Val, XP_005258263.1:p.Asp59Val

Select item 147808107315.

rs1478081073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:31091077 (GRCh38)
18:28671040 (GRCh37)
Canonical SPDI:: NC_000018.10:31091076:C:G,NC_000018.10:31091076:C:T
Gene:: DSC2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31091077C>G, NC_000018.10:g.31091077C>T, NC_000018.9:g.28671040C>G, NC_000018.9:g.28671040C>T, NG_008208.2:g.16349G>C, NG_008208.2:g.16349G>A, NM_024422.6:c.425G>C, NM_024422.6:c.425G>A, NM_024422.5:c.425G>C, NM_024422.5:c.425G>A, NM_024422.4:c.425G>C, NM_024422.4:c.425G>A, NM_024422.3:c.425G>C, NM_024422.3:c.425G>A, NM_004949.5:c.425G>C, NM_004949.5:c.425G>A, NM_004949.4:c.425G>C, NM_004949.4:c.425G>A, NM_004949.3:c.425G>C, NM_004949.3:c.425G>A, XM_005258206.5:c.-5G>C, XM_005258206.5:c.-5G>A, NM_001406507.1:c.-5G>C, NM_001406507.1:c.-5G>A, NM_001406506.1:c.-5G>C, NM_001406506.1:c.-5G>A, NP_077740.1:p.Cys142Ser, NP_077740.1:p.Cys142Tyr, NP_004940.1:p.Cys142Ser, NP_004940.1:p.Cys142Tyr

Select item 147805007016.

rs1478050070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:31101904 (GRCh38)
18:28681867 (GRCh37)
Canonical SPDI:: NC_000018.10:31101903:G:A
Gene:: DSC2 (Varview), DSCAS (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.31101904G>A, NC_000018.9:g.28681867G>A, NG_008208.2:g.5522C>T, NM_024422.6:c.68C>T, NM_024422.5:c.68C>T, NM_024422.4:c.68C>T, NM_024422.3:c.68C>T, NM_004949.5:c.68C>T, NM_004949.4:c.68C>T, NM_004949.3:c.68C>T, NP_077740.1:p.Ala23Val, NP_004940.1:p.Ala23Val

Select item 147746292717.

rs1477462927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:31070730 (GRCh38)
18:28650696 (GRCh37)
Canonical SPDI:: NC_000018.10:31070729:T:C
Gene:: DSC2 (Varview)
Functional Consequence:: 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_000018.10:g.31070730T>C, NC_000018.9:g.28650696T>C, NG_008208.2:g.36696A>G, NM_024422.6:c.2246A>G, NM_024422.5:c.2246A>G, NM_024422.4:c.2246A>G, NM_024422.3:c.2246A>G, NM_004949.5:c.2246A>G, NM_004949.4:c.2246A>G, NM_004949.3:c.2246A>G, XM_005258206.5:c.1817A>G, NM_001406507.1:c.1817A>G, NM_001406506.1:c.1817A>G, NP_077740.1:p.Lys749Arg, NP_004940.1:p.Lys749Arg, XP_005258263.1:p.Lys606Arg

Select item 147589999318.

rs1475899993 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:31082308 (GRCh38)
18:28662274 (GRCh37)
Canonical SPDI:: NC_000018.10:31082307:CCC:CC
Gene:: DSC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.31082310del, NC_000018.9:g.28662276del, NG_008208.2:g.25118del, NM_024422.6:c.1193del, NM_024422.5:c.1193del, NM_024422.4:c.1193del, NM_024422.3:c.1193del, NM_004949.5:c.1193del, NM_004949.4:c.1193del, NM_004949.3:c.1193del, XM_005258206.5:c.764del, NM_001406507.1:c.764del, NM_001406506.1:c.764del, NP_077740.1:p.Gly398fs, NP_004940.1:p.Gly398fs, XP_005258263.1:p.Gly255fs

Select item 147563032619.

rs1475630326 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 18:31092114 (GRCh38)
18:28672077 (GRCh37)
Canonical SPDI:: NC_000018.10:31092113:T:
Gene:: DSC2 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: pathogenic
HGVS:: NC_000018.10:g.31092114del, NC_000018.9:g.28672077del, NG_008208.2:g.15312del, NM_024422.6:c.341del, NM_024422.5:c.341del, NM_024422.4:c.341del, NM_024422.3:c.341del, NM_004949.5:c.341del, NM_004949.4:c.341del, NM_004949.3:c.341del, XM_005258206.5:c.-89del, NM_001406507.1:c.-89del, NM_001406506.1:c.-89del, NP_077740.1:p.Glu114fs, NP_004940.1:p.Glu114fs

Select item 147538145020.

rs1475381450 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCCTGGTAATC [Show Flanks]
Chromosome:: 18:31069015 (GRCh38)
18:28648982 (GRCh37)
Canonical SPDI:: NC_000018.10:31069015::CTCCTGGTAATC
Gene:: DSC2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000018.10:g.31069015_31069016insCTCCTGGTAATC, NC_000018.9:g.28648981_28648982insCTCCTGGTAATC, NG_008208.2:g.38410_38411insGATTACCAGGAG, NM_024422.6:c.2386_2387insGATTACCAGGAG, NM_024422.5:c.2386_2387insGATTACCAGGAG, NM_024422.4:c.2386_2387insGATTACCAGGAG, NM_024422.3:c.2386_2387insGATTACCAGGAG, NM_004949.5:c.2386_2387insGATTACCAGGAG, NM_004949.4:c.2386_2387insGATTACCAGGAG, NM_004949.3:c.2386_2387insGATTACCAGGAG, XM_005258206.5:c.1957_1958insGATTACCAGGAG, NM_001406507.1:c.1957_1958insGATTACCAGGAG, NM_001406506.1:c.1957_1958insGATTACCAGGAG, NP_077740.1:p.Ser796Ter, NP_004940.1:p.Ser796Ter, XP_005258263.1:p.Ser653Ter

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