SNP Links for Protein (Select 166063983) - SNP

Links from Protein

Items: 1 to 20 of 869

<< First< Prev

Page of 44

Next >Last >>

Select item 14905831131.

rs1490583113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:57165248 (GRCh38)
3:57199276 (GRCh37)
Canonical SPDI:: NC_000003.12:57165247:C:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.57165248C>A, NC_000003.11:g.57199276C>A, NG_047158.1:g.10070G>T, NM_017563.5:c.39G>T, NM_017563.4:c.39G>T, NM_017563.3:c.39G>T, XM_005265238.5:c.-281G>T, XM_005265238.4:c.-281G>T, XM_005265238.3:c.-281G>T, XM_005265238.2:c.-281G>T, XM_005265238.1:c.-281G>T, XM_047448369.1:c.-531G>T, NM_001080973.1:c.39G>T

Select item 14901193082.

rs1490119308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:57098463 (GRCh38)
3:57132491 (GRCh37)
Canonical SPDI:: NC_000003.12:57098462:C:T
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.57098463C>T, NC_000003.11:g.57132491C>T, NG_047158.1:g.76855G>A, NM_017563.5:c.1240G>A, NM_017563.4:c.1240G>A, NM_017563.3:c.1240G>A, NM_001318864.2:c.808G>A, NM_001318864.1:c.808G>A, NG_083009.1:g.1348C>T, XM_005265238.5:c.1156G>A, XM_005265238.4:c.1156G>A, XM_005265238.3:c.1156G>A, XM_005265238.2:c.1156G>A, XM_005265238.1:c.1156G>A, XM_011533849.2:c.808G>A, XM_011533849.1:c.1168G>A, XM_047448369.1:c.808G>A, NM_001080973.1:c.1240G>A, NP_060033.3:p.Glu414Lys, NP_001305793.1:p.Glu270Lys, XP_005265295.1:p.Glu386Lys, XP_011532151.2:p.Glu270Lys, XP_047304325.1:p.Glu270Lys

Select item 14898203423.

rs1489820342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57165257 (GRCh38)
3:57199285 (GRCh37)
Canonical SPDI:: NC_000003.12:57165256:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000069/8 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57165257G>A, NC_000003.11:g.57199285G>A, NG_047158.1:g.10061C>T, NM_017563.5:c.30C>T, NM_017563.4:c.30C>T, NM_017563.3:c.30C>T, XM_005265238.5:c.-290C>T, XM_005265238.4:c.-290C>T, XM_005265238.3:c.-290C>T, XM_005265238.2:c.-290C>T, XM_005265238.1:c.-290C>T, XM_047448369.1:c.-540C>T, NM_001080973.1:c.30C>T

Select item 14888928454.

rs1488892845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57097865 (GRCh38)
3:57131893 (GRCh37)
Canonical SPDI:: NC_000003.12:57097864:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.57097865G>A, NC_000003.11:g.57131893G>A, NG_047158.1:g.77453C>T, NM_017563.5:c.1838C>T, NM_017563.4:c.1838C>T, NM_017563.3:c.1838C>T, NM_001318864.2:c.1406C>T, NM_001318864.1:c.1406C>T, NG_083009.1:g.750G>A, XM_005265238.5:c.1754C>T, XM_005265238.4:c.1754C>T, XM_005265238.3:c.1754C>T, XM_005265238.2:c.1754C>T, XM_005265238.1:c.1754C>T, XM_011533849.2:c.1406C>T, XM_011533849.1:c.1766C>T, XM_047448369.1:c.1406C>T, NM_001080973.1:c.1838C>T, NP_060033.3:p.Thr613Ile, NP_001305793.1:p.Thr469Ile, XP_005265295.1:p.Thr585Ile, XP_011532151.2:p.Thr469Ile, XP_047304325.1:p.Thr469Ile

Select item 14868819125.

rs1486881912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:57098337 (GRCh38)
3:57132365 (GRCh37)
Canonical SPDI:: NC_000003.12:57098336:C:G,NC_000003.12:57098336:C:T
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57098337C>G, NC_000003.12:g.57098337C>T, NC_000003.11:g.57132365C>G, NC_000003.11:g.57132365C>T, NG_047158.1:g.76981G>C, NG_047158.1:g.76981G>A, NM_017563.5:c.1366G>C, NM_017563.5:c.1366G>A, NM_017563.4:c.1366G>C, NM_017563.4:c.1366G>A, NM_017563.3:c.1366G>C, NM_017563.3:c.1366G>A, NM_001318864.2:c.934G>C, NM_001318864.2:c.934G>A, NM_001318864.1:c.934G>C, NM_001318864.1:c.934G>A, NG_083009.1:g.1222C>G, NG_083009.1:g.1222C>T, XM_005265238.5:c.1282G>C, XM_005265238.5:c.1282G>A, XM_005265238.4:c.1282G>C, XM_005265238.4:c.1282G>A, XM_005265238.3:c.1282G>C, XM_005265238.3:c.1282G>A, XM_005265238.2:c.1282G>C, XM_005265238.2:c.1282G>A, XM_005265238.1:c.1282G>C, XM_005265238.1:c.1282G>A, XM_011533849.2:c.934G>C, XM_011533849.2:c.934G>A, XM_011533849.1:c.1294G>C, XM_011533849.1:c.1294G>A, XM_047448369.1:c.934G>C, XM_047448369.1:c.934G>A, NM_001080973.1:c.1366G>C, NM_001080973.1:c.1366G>A, NP_060033.3:p.Ala456Pro, NP_060033.3:p.Ala456Thr, NP_001305793.1:p.Ala312Pro, NP_001305793.1:p.Ala312Thr, XP_005265295.1:p.Ala428Pro, XP_005265295.1:p.Ala428Thr, XP_011532151.2:p.Ala312Pro, XP_011532151.2:p.Ala312Thr, XP_047304325.1:p.Ala312Pro, XP_047304325.1:p.Ala312Thr

Select item 14866901596.

rs1486690159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:57098135 (GRCh38)
3:57132163 (GRCh37)
Canonical SPDI:: NC_000003.12:57098134:T:G
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57098135T>G, NC_000003.11:g.57132163T>G, NG_047158.1:g.77183A>C, NM_017563.5:c.1568A>C, NM_017563.4:c.1568A>C, NM_017563.3:c.1568A>C, NM_001318864.2:c.1136A>C, NM_001318864.1:c.1136A>C, NG_083009.1:g.1020T>G, XM_005265238.5:c.1484A>C, XM_005265238.4:c.1484A>C, XM_005265238.3:c.1484A>C, XM_005265238.2:c.1484A>C, XM_005265238.1:c.1484A>C, XM_011533849.2:c.1136A>C, XM_011533849.1:c.1496A>C, XM_047448369.1:c.1136A>C, NM_001080973.1:c.1568A>C, NP_060033.3:p.Gln523Pro, NP_001305793.1:p.Gln379Pro, XP_005265295.1:p.Gln495Pro, XP_011532151.2:p.Gln379Pro, XP_047304325.1:p.Gln379Pro

Select item 14866562677.

rs1486656267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:57097802 (GRCh38)
3:57131830 (GRCh37)
Canonical SPDI:: NC_000003.12:57097801:C:T
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.57097802C>T, NC_000003.11:g.57131830C>T, NG_047158.1:g.77516G>A, NM_017563.5:c.1901G>A, NM_017563.4:c.1901G>A, NM_017563.3:c.1901G>A, NM_001318864.2:c.1469G>A, NM_001318864.1:c.1469G>A, NG_083009.1:g.687C>T, XM_005265238.5:c.1817G>A, XM_005265238.4:c.1817G>A, XM_005265238.3:c.1817G>A, XM_005265238.2:c.1817G>A, XM_005265238.1:c.1817G>A, XM_011533849.2:c.1469G>A, XM_011533849.1:c.1829G>A, XM_047448369.1:c.1469G>A, NM_001080973.1:c.1901G>A, NP_060033.3:p.Arg634Gln, NP_001305793.1:p.Arg490Gln, XP_005265295.1:p.Arg606Gln, XP_011532151.2:p.Arg490Gln, XP_047304325.1:p.Arg490Gln

Select item 14850037818.

rs1485003781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:57110202 (GRCh38)
3:57144230 (GRCh37)
Canonical SPDI:: NC_000003.12:57110201:G:C
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.57110202G>C, NC_000003.11:g.57144230G>C, NG_047158.1:g.65116C>G, NM_017563.5:c.420C>G, NM_017563.4:c.420C>G, NM_017563.3:c.420C>G, NM_001318864.2:c.-13C>G, NM_001318864.1:c.-13C>G, XM_005265238.5:c.336C>G, XM_005265238.4:c.336C>G, XM_005265238.3:c.336C>G, XM_005265238.2:c.336C>G, XM_005265238.1:c.336C>G, XM_011533849.2:c.-13C>G, XM_011533849.1:c.348C>G, XM_047448369.1:c.-13C>G, NM_001080973.1:c.420C>G, NP_060033.3:p.Phe140Leu, XP_005265295.1:p.Phe112Leu

Select item 14846421369.

rs1484642136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57098131 (GRCh38)
3:57132159 (GRCh37)
Canonical SPDI:: NC_000003.12:57098130:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57098131G>A, NC_000003.11:g.57132159G>A, NG_047158.1:g.77187C>T, NM_017563.5:c.1572C>T, NM_017563.4:c.1572C>T, NM_017563.3:c.1572C>T, NM_001318864.2:c.1140C>T, NM_001318864.1:c.1140C>T, NG_083009.1:g.1016G>A, XM_005265238.5:c.1488C>T, XM_005265238.4:c.1488C>T, XM_005265238.3:c.1488C>T, XM_005265238.2:c.1488C>T, XM_005265238.1:c.1488C>T, XM_011533849.2:c.1140C>T, XM_011533849.1:c.1500C>T, XM_047448369.1:c.1140C>T, NM_001080973.1:c.1572C>T

Select item 148397603410.

rs1483976034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:57105933 (GRCh38)
3:57139961 (GRCh37)
Canonical SPDI:: NC_000003.12:57105932:T:C
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.57105933T>C, NC_000003.11:g.57139961T>C, NG_047158.1:g.69385A>G, NM_017563.5:c.671A>G, NM_017563.4:c.671A>G, NM_017563.3:c.671A>G, NM_001318864.2:c.239A>G, NM_001318864.1:c.239A>G, XM_005265238.5:c.587A>G, XM_005265238.4:c.587A>G, XM_005265238.3:c.587A>G, XM_005265238.2:c.587A>G, XM_005265238.1:c.587A>G, XM_011533849.2:c.239A>G, XM_011533849.1:c.599A>G, XM_047448369.1:c.239A>G, NM_001080973.1:c.671A>G, NP_060033.3:p.Asn224Ser, NP_001305793.1:p.Asn80Ser, XP_005265295.1:p.Asn196Ser, XP_011532151.2:p.Asn80Ser, XP_047304325.1:p.Asn80Ser

Select item 148331821011.

rs1483318210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57104384 (GRCh38)
3:57138412 (GRCh37)
Canonical SPDI:: NC_000003.12:57104383:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.57104384G>A, NC_000003.11:g.57138412G>A, NG_047158.1:g.70934C>T, NM_017563.5:c.771C>T, NM_017563.4:c.771C>T, NM_017563.3:c.771C>T, NM_001318864.2:c.339C>T, NM_001318864.1:c.339C>T, XM_005265238.5:c.687C>T, XM_005265238.4:c.687C>T, XM_005265238.3:c.687C>T, XM_005265238.2:c.687C>T, XM_005265238.1:c.687C>T, XM_011533849.2:c.339C>T, XM_011533849.1:c.699C>T, XM_047448369.1:c.339C>T, NM_001080973.1:c.771C>T

Select item 148320088912.

rs1483200889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57109647 (GRCh38)
3:57143675 (GRCh37)
Canonical SPDI:: NC_000003.12:57109646:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.57109647G>A, NC_000003.11:g.57143675G>A, NG_047158.1:g.65671C>T, NM_017563.5:c.440C>T, NM_017563.4:c.440C>T, NM_017563.3:c.440C>T, NM_001318864.2:c.8C>T, NM_001318864.1:c.8C>T, XM_005265238.5:c.356C>T, XM_005265238.4:c.356C>T, XM_005265238.3:c.356C>T, XM_005265238.2:c.356C>T, XM_005265238.1:c.356C>T, XM_011533849.2:c.8C>T, XM_011533849.1:c.368C>T, XM_047448369.1:c.8C>T, NM_001080973.1:c.440C>T, NP_060033.3:p.Ser147Phe, NP_001305793.1:p.Ser3Phe, XP_005265295.1:p.Ser119Phe, XP_011532151.2:p.Ser3Phe, XP_047304325.1:p.Ser3Phe

Select item 148064107513.

rs1480641075 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:57101206 (GRCh38)
3:57135235 (GRCh37)
Canonical SPDI:: NC_000003.12:57101206:T:TT
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.57101207dup, NC_000003.11:g.57135235dup, NG_047158.1:g.74111dup, NM_017563.5:c.1136dup, NM_017563.4:c.1136dup, NM_017563.3:c.1136dup, NM_001318864.2:c.704dup, NM_001318864.1:c.704dup, XM_005265238.5:c.1052dup, XM_005265238.4:c.1052dup, XM_005265238.3:c.1052dup, XM_005265238.2:c.1052dup, XM_005265238.1:c.1052dup, XM_011533849.2:c.704dup, XM_011533849.1:c.1064dup, XM_047448369.1:c.704dup, NM_001080973.1:c.1136dup, NP_060033.3:p.Tyr379Ter, NP_001305793.1:p.Tyr235Ter, XP_005265295.1:p.Tyr351Ter, XP_011532151.2:p.Tyr235Ter, XP_047304325.1:p.Tyr235Ter

Select item 148001132714.

rs1480011327 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:57114746 (GRCh38)
3:57148775 (GRCh37)
Canonical SPDI:: NC_000003.12:57114746:C:CC
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.57114747dup, NC_000003.11:g.57148775dup, NG_047158.1:g.60571dup, NM_017563.5:c.255dup, NM_017563.4:c.255dup, NM_017563.3:c.255dup, NM_001318864.2:c.-178dup, NM_001318864.1:c.-178dup, XM_005265238.5:c.171dup, XM_005265238.4:c.171dup, XM_005265238.3:c.171dup, XM_005265238.2:c.171dup, XM_005265238.1:c.171dup, XM_011533849.2:c.-178dup, XM_011533849.1:c.183dup, XM_047448369.1:c.-178dup, NM_001080973.1:c.255dup, NP_060033.3:p.Tyr86fs, XP_005265295.1:p.Tyr58fs

Select item 147998942615.

rs1479989426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:57098071 (GRCh38)
3:57132099 (GRCh37)
Canonical SPDI:: NC_000003.12:57098070:G:A,NC_000003.12:57098070:G:T
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.57098071G>A, NC_000003.12:g.57098071G>T, NC_000003.11:g.57132099G>A, NC_000003.11:g.57132099G>T, NG_047158.1:g.77247C>T, NG_047158.1:g.77247C>A, NM_017563.5:c.1632C>T, NM_017563.5:c.1632C>A, NM_017563.4:c.1632C>T, NM_017563.4:c.1632C>A, NM_017563.3:c.1632C>T, NM_017563.3:c.1632C>A, NM_001318864.2:c.1200C>T, NM_001318864.2:c.1200C>A, NM_001318864.1:c.1200C>T, NM_001318864.1:c.1200C>A, NG_083009.1:g.956G>A, NG_083009.1:g.956G>T, XM_005265238.5:c.1548C>T, XM_005265238.5:c.1548C>A, XM_005265238.4:c.1548C>T, XM_005265238.4:c.1548C>A, XM_005265238.3:c.1548C>T, XM_005265238.3:c.1548C>A, XM_005265238.2:c.1548C>T, XM_005265238.2:c.1548C>A, XM_005265238.1:c.1548C>T, XM_005265238.1:c.1548C>A, XM_011533849.2:c.1200C>T, XM_011533849.2:c.1200C>A, XM_011533849.1:c.1560C>T, XM_011533849.1:c.1560C>A, XM_047448369.1:c.1200C>T, XM_047448369.1:c.1200C>A, NM_001080973.1:c.1632C>T, NM_001080973.1:c.1632C>A

Select item 147877493116.

rs1478774931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57103093 (GRCh38)
3:57137121 (GRCh37)
Canonical SPDI:: NC_000003.12:57103092:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.57103093G>A, NC_000003.11:g.57137121G>A, NG_047158.1:g.72225C>T, NM_017563.5:c.866C>T, NM_017563.4:c.866C>T, NM_017563.3:c.866C>T, NM_001318864.2:c.434C>T, NM_001318864.1:c.434C>T, XM_005265238.5:c.782C>T, XM_005265238.4:c.782C>T, XM_005265238.3:c.782C>T, XM_005265238.2:c.782C>T, XM_005265238.1:c.782C>T, XM_011533849.2:c.434C>T, XM_011533849.1:c.794C>T, XM_047448369.1:c.434C>T, NM_001080973.1:c.866C>T, NP_060033.3:p.Pro289Leu, NP_001305793.1:p.Pro145Leu, XP_005265295.1:p.Pro261Leu, XP_011532151.2:p.Pro145Leu, XP_047304325.1:p.Pro145Leu

Select item 147797226417.

rs1477972264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:57098321 (GRCh38)
3:57132349 (GRCh37)
Canonical SPDI:: NC_000003.12:57098320:A:G
Gene:: IL17RD (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.57098321A>G, NC_000003.11:g.57132349A>G, NG_047158.1:g.76997T>C, NM_017563.5:c.1382T>C, NM_017563.4:c.1382T>C, NM_017563.3:c.1382T>C, NM_001318864.2:c.950T>C, NM_001318864.1:c.950T>C, NG_083009.1:g.1206A>G, XM_005265238.5:c.1298T>C, XM_005265238.4:c.1298T>C, XM_005265238.3:c.1298T>C, XM_005265238.2:c.1298T>C, XM_005265238.1:c.1298T>C, XM_011533849.2:c.950T>C, XM_011533849.1:c.1310T>C, XM_047448369.1:c.950T>C, NM_001080973.1:c.1382T>C, NP_060033.3:p.Leu461Pro, NP_001305793.1:p.Leu317Pro, XP_005265295.1:p.Leu433Pro, XP_011532151.2:p.Leu317Pro, XP_047304325.1:p.Leu317Pro

Select item 147735855218.

rs1477358552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:57165209 (GRCh38)
3:57199237 (GRCh37)
Canonical SPDI:: NC_000003.12:57165208:G:A
Gene:: IL17RD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000074/9 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.57165209G>A, NC_000003.11:g.57199237G>A, NG_047158.1:g.10109C>T, NM_017563.5:c.78C>T, NM_017563.4:c.78C>T, NM_017563.3:c.78C>T, XM_005265238.5:c.-242C>T, XM_005265238.4:c.-242C>T, XM_005265238.3:c.-242C>T, XM_005265238.2:c.-242C>T, XM_005265238.1:c.-242C>T, XM_047448369.1:c.-492C>T, NM_001080973.1:c.78C>T

Select item 147683279019.

rs1476832790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:57106000 (GRCh38)
3:57140028 (GRCh37)
Canonical SPDI:: NC_000003.12:57105999:G:T
Gene:: IL17RD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.57106000G>T, NC_000003.11:g.57140028G>T, NG_047158.1:g.69318C>A, NM_017563.5:c.604C>A, NM_017563.4:c.604C>A, NM_017563.3:c.604C>A, NM_001318864.2:c.172C>A, NM_001318864.1:c.172C>A, XM_005265238.5:c.520C>A, XM_005265238.4:c.520C>A, XM_005265238.3:c.520C>A, XM_005265238.2:c.520C>A, XM_005265238.1:c.520C>A, XM_011533849.2:c.172C>A, XM_011533849.1:c.532C>A, XM_047448369.1:c.172C>A, NM_001080973.1:c.604C>A, NP_060033.3:p.Pro202Thr, NP_001305793.1:p.Pro58Thr, XP_005265295.1:p.Pro174Thr, XP_011532151.2:p.Pro58Thr, XP_047304325.1:p.Pro58Thr

Select item 147306828620.

rs1473068286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:57106146 (GRCh38)
3:57140174 (GRCh37)
Canonical SPDI:: NC_000003.12:57106145:G:T
Gene:: IL17RD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.57106146G>T, NC_000003.11:g.57140174G>T, NG_047158.1:g.69172C>A, NM_017563.5:c.559C>A, NM_017563.4:c.559C>A, NM_017563.3:c.559C>A, NM_001318864.2:c.127C>A, NM_001318864.1:c.127C>A, XM_005265238.5:c.475C>A, XM_005265238.4:c.475C>A, XM_005265238.3:c.475C>A, XM_005265238.2:c.475C>A, XM_005265238.1:c.475C>A, XM_011533849.2:c.127C>A, XM_011533849.1:c.487C>A, XM_047448369.1:c.127C>A, NM_001080973.1:c.559C>A, NP_060033.3:p.Leu187Met, NP_001305793.1:p.Leu43Met, XP_005265295.1:p.Leu159Met, XP_011532151.2:p.Leu43Met, XP_047304325.1:p.Leu43Met

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 869

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity