SNP Links for Protein (Select 7656861) - SNP

Links from Protein

Items: 1 to 20 of 793

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Select item 14900464461.

rs1490046446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:39680141 (GRCh38)
8:39537660 (GRCh37)
Canonical SPDI:: NC_000008.11:39680140:T:A,NC_000008.11:39680140:T:C
Gene:: ADAM18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.39680141T>A, NC_000008.11:g.39680141T>C, NC_000008.10:g.39537660T>A, NC_000008.10:g.39537660T>C, NT_187577.1:g.430759T>A, NT_187577.1:g.430759T>C, NM_014237.3:c.1736T>A, NM_014237.3:c.1736T>C, NM_014237.2:c.1736T>A, NM_014237.2:c.1736T>C, NM_001320313.2:c.1664T>A, NM_001320313.2:c.1664T>C, NM_001320313.1:c.1664T>A, NM_001320313.1:c.1664T>C, NR_135201.2:n.1429T>A, NR_135201.2:n.1429T>C, NR_135201.1:n.1429T>A, NR_135201.1:n.1429T>C, NP_055052.1:p.Val579Glu, NP_055052.1:p.Val579Ala, NP_001307242.1:p.Val555Glu, NP_001307242.1:p.Val555Ala

Select item 14893908382.

rs1489390838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:39610600 (GRCh38)
8:39468119 (GRCh37)
Canonical SPDI:: NC_000008.11:39610599:T:C
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39610600T>C, NC_000008.10:g.39468119T>C, NT_187577.1:g.361229T>C, NM_014237.3:c.416T>C, NM_014237.2:c.416T>C, NM_001320313.2:c.416T>C, NM_001320313.1:c.416T>C, NM_001190956.2:c.416T>C, NM_001190956.1:c.416T>C, NP_055052.1:p.Ile139Thr, NP_001307242.1:p.Ile139Thr, NP_001177885.1:p.Ile139Thr

Select item 14884811833.

rs1488481183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:39677441 (GRCh38)
8:39534960 (GRCh37)
Canonical SPDI:: NC_000008.11:39677440:T:G
Gene:: ADAM18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39677441T>G, NC_000008.10:g.39534960T>G, NT_187577.1:g.428059T>G, NM_014237.3:c.1536T>G, NM_014237.2:c.1536T>G, NM_001320313.2:c.1464T>G, NM_001320313.1:c.1464T>G, NR_135201.2:n.1229T>G, NR_135201.1:n.1229T>G

Select item 14884576894.

rs1488457689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39677438 (GRCh38)
8:39534957 (GRCh37)
Canonical SPDI:: NC_000008.11:39677437:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.39677438A>G, NC_000008.10:g.39534957A>G, NT_187577.1:g.428056A>G, NM_014237.3:c.1533A>G, NM_014237.2:c.1533A>G, NM_001320313.2:c.1461A>G, NM_001320313.1:c.1461A>G, NR_135201.2:n.1226A>G, NR_135201.1:n.1226A>G

Select item 14874965745.

rs1487496574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39680136 (GRCh38)
8:39537655 (GRCh37)
Canonical SPDI:: NC_000008.11:39680135:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39680136A>G, NC_000008.10:g.39537655A>G, NT_187577.1:g.430754A>G, NM_014237.3:c.1731A>G, NM_014237.2:c.1731A>G, NM_001320313.2:c.1659A>G, NM_001320313.1:c.1659A>G, NR_135201.2:n.1424A>G, NR_135201.1:n.1424A>G

Select item 14871728596.

rs1487172859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39585337 (GRCh38)
8:39442856 (GRCh37)
Canonical SPDI:: NC_000008.11:39585336:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.39585337A>G, NC_000008.10:g.39442856A>G, NT_187577.1:g.335971A>G, NM_014237.3:c.117A>G, NM_014237.2:c.117A>G, NM_001320313.2:c.117A>G, NM_001320313.1:c.117A>G, NR_135201.2:n.172A>G, NR_135201.1:n.172A>G, NM_001190956.2:c.117A>G, NM_001190956.1:c.117A>G

Select item 14870245457.

rs1487024545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:39723784 (GRCh38)
8:39581303 (GRCh37)
Canonical SPDI:: NC_000008.11:39723783:G:A
Gene:: ADAM18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.39723784G>A, NC_000008.10:g.39581303G>A, NT_187577.1:g.474403G>A, NM_014237.3:c.2054G>A, NM_014237.2:c.2054G>A, NM_001320313.2:c.1982G>A, NM_001320313.1:c.1982G>A, NR_135201.2:n.1747G>A, NR_135201.1:n.1747G>A, NP_055052.1:p.Trp685Ter, NP_001307242.1:p.Trp661Ter

Select item 14861194018.

rs1486119401 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:39637599 (GRCh38)
8:39495118 (GRCh37)
Canonical SPDI:: NC_000008.11:39637598:CC:C
Gene:: ADAM18 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39637600del, NC_000008.10:g.39495119del, NT_187577.1:g.388228del, NM_014237.3:c.724del, NM_014237.2:c.724del, NM_001320313.2:c.652del, NM_001320313.1:c.652del, NR_135201.2:n.601del, NR_135201.1:n.601del, NP_055052.1:p.Gln242fs, NP_001307242.1:p.Gln218fs

Select item 14841103839.

rs1484110383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39663796 (GRCh38)
8:39521315 (GRCh37)
Canonical SPDI:: NC_000008.11:39663795:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.39663796A>G, NC_000008.10:g.39521315A>G, NT_187577.1:g.414415A>G, NM_014237.3:c.1232A>G, NM_014237.2:c.1232A>G, NM_001320313.2:c.1160A>G, NM_001320313.1:c.1160A>G, NR_135201.2:n.925A>G, NR_135201.1:n.925A>G, NP_055052.1:p.Glu411Gly, NP_001307242.1:p.Glu387Gly

Select item 148181814210.

rs1481818142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:39637325 (GRCh38)
8:39494844 (GRCh37)
Canonical SPDI:: NC_000008.11:39637324:T:C
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39637325T>C, NC_000008.10:g.39494844T>C, NT_187577.1:g.387953T>C, NM_014237.3:c.650T>C, NM_014237.2:c.650T>C, NR_135201.2:n.527T>C, NR_135201.1:n.527T>C, NP_055052.1:p.Leu217Pro

Select item 147961821611.

rs1479618216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:39648486 (GRCh38)
8:39506005 (GRCh37)
Canonical SPDI:: NC_000008.11:39648485:A:T
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39648486A>T, NC_000008.10:g.39506005A>T, NT_187577.1:g.399116A>T, NM_014237.3:c.1189A>T, NM_014237.2:c.1189A>T, NM_001320313.2:c.1117A>T, NM_001320313.1:c.1117A>T, NP_055052.1:p.Ile397Phe, NP_001307242.1:p.Ile373Phe

Select item 147853990112.

rs1478539901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:39609112 (GRCh38)
8:39466631 (GRCh37)
Canonical SPDI:: NC_000008.11:39609111:T:A
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39609112T>A, NC_000008.10:g.39466631T>A, NT_187577.1:g.359741T>A, NM_014237.3:c.259T>A, NM_014237.2:c.259T>A, NM_001320313.2:c.259T>A, NM_001320313.1:c.259T>A, NR_135201.2:n.314T>A, NR_135201.1:n.314T>A, NM_001190956.2:c.259T>A, NM_001190956.1:c.259T>A, NP_055052.1:p.Tyr87Asn, NP_001307242.1:p.Tyr87Asn, NP_001177885.1:p.Tyr87Asn

Select item 147469387813.

rs1474693878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:39648353 (GRCh38)
8:39505872 (GRCh37)
Canonical SPDI:: NC_000008.11:39648352:T:G
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.39648353T>G, NC_000008.10:g.39505872T>G, NT_187577.1:g.398983T>G, NM_014237.3:c.1056T>G, NM_014237.2:c.1056T>G, NM_001320313.2:c.984T>G, NM_001320313.1:c.984T>G, NP_055052.1:p.Ser352Arg, NP_001307242.1:p.Ser328Arg

Select item 147464656114.

rs1474646561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:39638517 (GRCh38)
8:39496036 (GRCh37)
Canonical SPDI:: NC_000008.11:39638516:A:C,NC_000008.11:39638516:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39638517A>C, NC_000008.11:g.39638517A>G, NC_000008.10:g.39496036A>C, NC_000008.10:g.39496036A>G, NT_187577.1:g.389144A>C, NT_187577.1:g.389144A>G, NM_014237.3:c.880A>C, NM_014237.3:c.880A>G, NM_014237.2:c.880A>C, NM_014237.2:c.880A>G, NM_001320313.2:c.808A>C, NM_001320313.2:c.808A>G, NM_001320313.1:c.808A>C, NM_001320313.1:c.808A>G, NR_135201.2:n.757A>C, NR_135201.2:n.757A>G, NR_135201.1:n.757A>C, NR_135201.1:n.757A>G, NP_055052.1:p.Asn294His, NP_055052.1:p.Asn294Asp, NP_001307242.1:p.Asn270His, NP_001307242.1:p.Asn270Asp

Select item 147333299015.

rs1473332990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39637265 (GRCh38)
8:39494784 (GRCh37)
Canonical SPDI:: NC_000008.11:39637264:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39637265A>G, NC_000008.10:g.39494784A>G, NT_187577.1:g.387893A>G, NM_014237.3:c.590A>G, NM_014237.2:c.590A>G, NR_135201.2:n.467A>G, NR_135201.1:n.467A>G, NP_055052.1:p.Tyr197Cys

Select item 147316731016.

rs1473167310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:39692612 (GRCh38)
8:39550131 (GRCh37)
Canonical SPDI:: NC_000008.11:39692611:A:G
Gene:: ADAM18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.39692612A>G, NC_000008.10:g.39550131A>G, NT_187577.1:g.443230A>G, NM_014237.3:c.1834A>G, NM_014237.2:c.1834A>G, NM_001320313.2:c.1762A>G, NM_001320313.1:c.1762A>G, NR_135201.2:n.1527A>G, NR_135201.1:n.1527A>G, NP_055052.1:p.Lys612Glu, NP_001307242.1:p.Lys588Glu

Select item 146884764817.

rs1468847648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:39663875 (GRCh38)
8:39521394 (GRCh37)
Canonical SPDI:: NC_000008.11:39663874:T:C
Gene:: ADAM18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.39663875T>C, NC_000008.10:g.39521394T>C, NT_187577.1:g.414494T>C, NM_014237.3:c.1311T>C, NM_014237.2:c.1311T>C, NM_001320313.2:c.1239T>C, NM_001320313.1:c.1239T>C, NR_135201.2:n.1004T>C, NR_135201.1:n.1004T>C

Select item 146881233118.

rs1468812331 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 8:39637593 (GRCh38)
8:39495113 (GRCh37)
Canonical SPDI:: NC_000008.11:39637593:GA:GAGA
Gene:: ADAM18 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.39637594_39637595dup, NC_000008.10:g.39495113_39495114dup, NT_187577.1:g.388222_388223dup, NM_014237.3:c.718_719dup, NM_014237.2:c.718_719dup, NM_001320313.2:c.646_647dup, NM_001320313.1:c.646_647dup, NR_135201.2:n.595_596dup, NR_135201.1:n.595_596dup, NP_055052.1:p.Asn241fs, NP_001307242.1:p.Asn217fs

Select item 146838291219.

rs1468382912 [Homo sapiens]

Variant type:: DEL
Alleles:: CAT>- [Show Flanks]
Chromosome:: 8:39609110 (GRCh38)
8:39466629 (GRCh37)
Canonical SPDI:: NC_000008.11:39609109:CAT:
Gene:: ADAM18 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000008.11:g.39609110_39609112del, NC_000008.10:g.39466629_39466631del, NT_187577.1:g.359739_359741del, NM_014237.3:c.257_259del, NM_014237.2:c.257_259del, NM_001320313.2:c.257_259del, NM_001320313.1:c.257_259del, NR_135201.2:n.312_314del, NR_135201.1:n.312_314del, NM_001190956.2:c.257_259del, NM_001190956.1:c.257_259del, NP_055052.1:p.Pro86_Tyr87delinsHis, NP_001307242.1:p.Pro86_Tyr87delinsHis, NP_001177885.1:p.Pro86_Tyr87delinsHis

Select item 146831249120.

rs1468312491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:39648394 (GRCh38)
8:39505913 (GRCh37)
Canonical SPDI:: NC_000008.11:39648393:G:A
Gene:: ADAM18 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.39648394G>A, NC_000008.10:g.39505913G>A, NT_187577.1:g.399024G>A, NM_014237.3:c.1097G>A, NM_014237.2:c.1097G>A, NM_001320313.2:c.1025G>A, NM_001320313.1:c.1025G>A, NP_055052.1:p.Arg366Lys, NP_001307242.1:p.Arg342Lys

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