SNP Links for Protein (Select 33624896) - SNP

Links from Protein

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Select item 14900863741.

rs1490086374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:64550944 (GRCh38)
3:64536620 (GRCh37)
Canonical SPDI:: NC_000003.12:64550943:C:T
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64550944C>T, NC_000003.11:g.64536620C>T, NM_182920.2:c.4817G>A, NM_182920.1:c.4817G>A, NM_001318781.2:c.4733G>A, NM_001318781.1:c.4733G>A, XR_245151.1:n.5160G>A, XR_007095711.1:n.5076G>A, XR_007095712.1:n.5160G>A, NM_182921.1:c.4817G>A, NP_891550.1:p.Ser1606Asn, NP_001305710.1:p.Ser1578Asn

Select item 14883831462.

rs1488383146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:64686601 (GRCh38)
3:64672277 (GRCh37)
Canonical SPDI:: NC_000003.12:64686600:C:G
Gene:: ADAMTS9 (Varview), ADAMTS9-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64686601C>G, NC_000003.11:g.64672277C>G, NM_182920.2:c.483G>C, NM_182920.1:c.483G>C, NM_001318781.2:c.483G>C, NM_001318781.1:c.483G>C, NM_020249.2:c.483G>C, XR_245151.1:n.826G>C, XR_007095711.1:n.826G>C, XR_007095712.1:n.826G>C, NM_182921.1:c.483G>C, NM_020249.1:c.483G>C, NP_891550.1:p.Glu161Asp, NP_001305710.1:p.Glu161Asp

Select item 14871264723.

rs1487126472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:64613471 (GRCh38)
3:64599147 (GRCh37)
Canonical SPDI:: NC_000003.12:64613470:C:A,NC_000003.12:64613470:C:G
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64613471C>A, NC_000003.12:g.64613471C>G, NC_000003.11:g.64599147C>A, NC_000003.11:g.64599147C>G, NM_182920.2:c.3228G>T, NM_182920.2:c.3228G>C, NM_182920.1:c.3228G>T, NM_182920.1:c.3228G>C, NM_001318781.2:c.3144G>T, NM_001318781.2:c.3144G>C, NM_001318781.1:c.3144G>T, NM_001318781.1:c.3144G>C, XR_245151.1:n.3571G>T, XR_245151.1:n.3571G>C, XR_007095711.1:n.3487G>T, XR_007095711.1:n.3487G>C, XR_007095712.1:n.3571G>T, XR_007095712.1:n.3571G>C, NM_182921.1:c.3228G>T, NM_182921.1:c.3228G>C, NP_891550.1:p.Gln1076His, NP_891550.1:p.Gln1076His, NP_001305710.1:p.Gln1048His, NP_001305710.1:p.Gln1048His

Select item 14863680984.

rs1486368098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:64686935 (GRCh38)
3:64672611 (GRCh37)
Canonical SPDI:: NC_000003.12:64686934:A:G
Gene:: ADAMTS9 (Varview), ADAMTS9-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.64686935A>G, NC_000003.11:g.64672611A>G, NM_182920.2:c.149T>C, NM_182920.1:c.149T>C, NM_001318781.2:c.149T>C, NM_001318781.1:c.149T>C, NM_020249.2:c.149T>C, XR_245151.1:n.492T>C, XR_007095711.1:n.492T>C, XR_007095712.1:n.492T>C, NM_182921.1:c.149T>C, NM_020249.1:c.149T>C, NP_891550.1:p.Ile50Thr, NP_001305710.1:p.Ile50Thr

Select item 14860259535.

rs1486025953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:64602087 (GRCh38)
3:64587763 (GRCh37)
Canonical SPDI:: NC_000003.12:64602086:T:C,NC_000003.12:64602086:T:G
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.64602087T>C, NC_000003.12:g.64602087T>G, NC_000003.11:g.64587763T>C, NC_000003.11:g.64587763T>G, NM_182920.2:c.3874A>G, NM_182920.2:c.3874A>C, NM_182920.1:c.3874A>G, NM_182920.1:c.3874A>C, NM_001318781.2:c.3790A>G, NM_001318781.2:c.3790A>C, NM_001318781.1:c.3790A>G, NM_001318781.1:c.3790A>C, XR_245151.1:n.4217A>G, XR_245151.1:n.4217A>C, XR_007095711.1:n.4133A>G, XR_007095711.1:n.4133A>C, XR_007095712.1:n.4217A>G, XR_007095712.1:n.4217A>C, NM_182921.1:c.3874A>G, NM_182921.1:c.3874A>C, NP_891550.1:p.Met1292Val, NP_891550.1:p.Met1292Leu, NP_001305710.1:p.Met1264Val, NP_001305710.1:p.Met1264Leu

Select item 14859666806.

rs1485966680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:64522228 (GRCh38)
3:64507904 (GRCh37)
Canonical SPDI:: NC_000003.12:64522227:A:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.64522228A>C, NC_000003.11:g.64507904A>C, NM_182920.2:c.5751T>G, NM_182920.1:c.5751T>G, NM_001318781.2:c.5667T>G, NM_001318781.1:c.5667T>G, XR_245151.1:n.6094T>G, XR_007095711.1:n.6010T>G

Select item 14855750447.

rs1485575044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:64551029 (GRCh38)
3:64536705 (GRCh37)
Canonical SPDI:: NC_000003.12:64551028:G:A
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000003.12:g.64551029G>A, NC_000003.11:g.64536705G>A, NM_182920.2:c.4732C>T, NM_182920.1:c.4732C>T, NM_001318781.2:c.4648C>T, NM_001318781.1:c.4648C>T, XR_245151.1:n.5075C>T, XR_007095711.1:n.4991C>T, XR_007095712.1:n.5075C>T, NM_182921.1:c.4732C>T, NP_891550.1:p.Arg1578Cys, NP_001305710.1:p.Arg1550Cys

Select item 14854223208.

rs1485422320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:64615433 (GRCh38)
3:64601109 (GRCh37)
Canonical SPDI:: NC_000003.12:64615432:T:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.64615433T>C, NC_000003.11:g.64601109T>C, NM_182920.2:c.3077A>G, NM_182920.1:c.3077A>G, NM_001318781.2:c.2993A>G, NM_001318781.1:c.2993A>G, NM_020249.2:c.3077A>G, XR_245151.1:n.3420A>G, XR_007095711.1:n.3336A>G, XR_007095712.1:n.3420A>G, NM_182921.1:c.3077A>G, NM_020249.1:c.3077A>G, NP_891550.1:p.Asn1026Ser, NP_001305710.1:p.Asn998Ser

Select item 14842526809.

rs1484252680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:64604025 (GRCh38)
3:64589701 (GRCh37)
Canonical SPDI:: NC_000003.12:64604024:G:A
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.64604025G>A, NC_000003.11:g.64589701G>A, NM_182920.2:c.3644C>T, NM_182920.1:c.3644C>T, NM_001318781.2:c.3560C>T, NM_001318781.1:c.3560C>T, XR_245151.1:n.3987C>T, XR_007095711.1:n.3903C>T, XR_007095712.1:n.3987C>T, NM_182921.1:c.3644C>T, NP_891550.1:p.Ser1215Phe, NP_001305710.1:p.Ser1187Phe

Select item 148416420310.

rs1484164203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:64546778 (GRCh38)
3:64532454 (GRCh37)
Canonical SPDI:: NC_000003.12:64546777:T:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64546778T>C, NC_000003.11:g.64532454T>C, NM_182920.2:c.5044A>G, NM_182920.1:c.5044A>G, NM_001318781.2:c.4960A>G, NM_001318781.1:c.4960A>G, XR_245151.1:n.5387A>G, XR_007095711.1:n.5303A>G, NP_891550.1:p.Arg1682Gly, NP_001305710.1:p.Arg1654Gly

Select item 148390107911.

rs1483901079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:64658732 (GRCh38)
3:64644408 (GRCh37)
Canonical SPDI:: NC_000003.12:64658731:T:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64658732T>C, NC_000003.11:g.64644408T>C, NM_182920.2:c.739A>G, NM_182920.1:c.739A>G, NM_001318781.2:c.739A>G, NM_001318781.1:c.739A>G, NM_020249.2:c.739A>G, XR_245151.1:n.1082A>G, XR_007095711.1:n.1082A>G, XR_007095712.1:n.1082A>G, NM_182921.1:c.739A>G, NM_020249.1:c.739A>G, NP_891550.1:p.Arg247Gly, NP_001305710.1:p.Arg247Gly

Select item 148345784112.

rs1483457841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:64622451 (GRCh38)
3:64608127 (GRCh37)
Canonical SPDI:: NC_000003.12:64622450:G:A
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.64622451G>A, NC_000003.11:g.64608127G>A, NM_182920.2:c.2525C>T, NM_182920.1:c.2525C>T, NM_001318781.2:c.2441C>T, NM_001318781.1:c.2441C>T, NM_020249.2:c.2525C>T, XR_245151.1:n.2868C>T, XR_007095711.1:n.2784C>T, XR_007095712.1:n.2868C>T, NM_182921.1:c.2525C>T, NM_020249.1:c.2525C>T, NP_891550.1:p.Thr842Ile, NP_001305710.1:p.Thr814Ile

Select item 148244963213.

rs1482449632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:64616041 (GRCh38)
3:64601717 (GRCh37)
Canonical SPDI:: NC_000003.12:64616040:G:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64616041G>C, NC_000003.11:g.64601717G>C, NM_182920.2:c.2943C>G, NM_182920.1:c.2943C>G, NM_001318781.2:c.2859C>G, NM_001318781.1:c.2859C>G, NM_020249.2:c.2943C>G, XR_245151.1:n.3286C>G, XR_007095711.1:n.3202C>G, XR_007095712.1:n.3286C>G, NM_182921.1:c.2943C>G, NM_020249.1:c.2943C>G, NP_891550.1:p.Ser981Arg, NP_001305710.1:p.Ser953Arg

Select item 148137230014.

rs1481372300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:64649689 (GRCh38)
3:64635365 (GRCh37)
Canonical SPDI:: NC_000003.12:64649688:T:A
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64649689T>A, NC_000003.11:g.64635365T>A, NM_182920.2:c.1553A>T, NM_182920.1:c.1553A>T, NM_001318781.2:c.1469A>T, NM_001318781.1:c.1469A>T, NM_020249.2:c.1553A>T, XR_245151.1:n.1896A>T, XR_007095711.1:n.1812A>T, XR_007095712.1:n.1896A>T, NM_182921.1:c.1553A>T, NM_020249.1:c.1553A>T, NP_891550.1:p.Asn518Ile, NP_001305710.1:p.Asn490Ile

Select item 148061802315.

rs1480618023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:64633536 (GRCh38)
3:64619212 (GRCh37)
Canonical SPDI:: NC_000003.12:64633535:C:G
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64633536C>G, NC_000003.11:g.64619212C>G, NM_182920.2:c.2111G>C, NM_182920.1:c.2111G>C, NM_001318781.2:c.2027G>C, NM_001318781.1:c.2027G>C, NM_020249.2:c.2111G>C, XR_245151.1:n.2454G>C, XR_007095711.1:n.2370G>C, XR_007095712.1:n.2454G>C, NM_182921.1:c.2111G>C, NM_020249.1:c.2111G>C, NP_891550.1:p.Arg704Thr, NP_001305710.1:p.Arg676Thr

Select item 148051740416.

rs1480517404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:64596975 (GRCh38)
3:64582651 (GRCh37)
Canonical SPDI:: NC_000003.12:64596974:G:A
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64596975G>A, NC_000003.11:g.64582651G>A, NM_182920.2:c.4034C>T, NM_182920.1:c.4034C>T, NM_001318781.2:c.3950C>T, NM_001318781.1:c.3950C>T, XR_245151.1:n.4377C>T, XR_007095711.1:n.4293C>T, XR_007095712.1:n.4377C>T, NM_182921.1:c.4034C>T, NP_891550.1:p.Ala1345Val, NP_001305710.1:p.Ala1317Val

Select item 147970517917.

rs1479705179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:64621185 (GRCh38)
3:64606861 (GRCh37)
Canonical SPDI:: NC_000003.12:64621184:A:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64621185A>C, NC_000003.11:g.64606861A>C, NM_182920.2:c.2742T>G, NM_182920.1:c.2742T>G, NM_001318781.2:c.2658T>G, NM_001318781.1:c.2658T>G, NM_020249.2:c.2742T>G, XR_245151.1:n.3085T>G, XR_007095711.1:n.3001T>G, XR_007095712.1:n.3085T>G, NM_182921.1:c.2742T>G, NM_020249.1:c.2742T>G

Select item 147944626718.

rs1479446267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:64633704 (GRCh38)
3:64619380 (GRCh37)
Canonical SPDI:: NC_000003.12:64633703:T:G
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64633704T>G, NC_000003.11:g.64619380T>G, NM_182920.2:c.2032A>C, NM_182920.1:c.2032A>C, NM_001318781.2:c.1948A>C, NM_001318781.1:c.1948A>C, NM_020249.2:c.2032A>C, XR_245151.1:n.2375A>C, XR_007095711.1:n.2291A>C, XR_007095712.1:n.2375A>C, NM_182921.1:c.2032A>C, NM_020249.1:c.2032A>C, NP_891550.1:p.Ser678Arg, NP_001305710.1:p.Ser650Arg

Select item 147928180619.

rs1479281806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:64631834 (GRCh38)
3:64617510 (GRCh37)
Canonical SPDI:: NC_000003.12:64631833:G:A,NC_000003.12:64631833:G:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.64631834G>A, NC_000003.12:g.64631834G>C, NC_000003.11:g.64617510G>A, NC_000003.11:g.64617510G>C, NM_182920.2:c.2267C>T, NM_182920.2:c.2267C>G, NM_182920.1:c.2267C>T, NM_182920.1:c.2267C>G, NM_001318781.2:c.2183C>T, NM_001318781.2:c.2183C>G, NM_001318781.1:c.2183C>T, NM_001318781.1:c.2183C>G, NM_020249.2:c.2267C>T, NM_020249.2:c.2267C>G, XR_245151.1:n.2610C>T, XR_245151.1:n.2610C>G, XR_007095711.1:n.2526C>T, XR_007095711.1:n.2526C>G, XR_007095712.1:n.2610C>T, XR_007095712.1:n.2610C>G, NM_182921.1:c.2267C>T, NM_182921.1:c.2267C>G, NM_020249.1:c.2267C>T, NM_020249.1:c.2267C>G, NP_891550.1:p.Ala756Val, NP_891550.1:p.Ala756Gly, NP_001305710.1:p.Ala728Val, NP_001305710.1:p.Ala728Gly

Select item 147925058920.

rs1479250589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:64633823 (GRCh38)
3:64619499 (GRCh37)
Canonical SPDI:: NC_000003.12:64633822:T:C
Gene:: ADAMTS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.64633823T>C, NC_000003.11:g.64619499T>C, NM_182920.2:c.1913A>G, NM_182920.1:c.1913A>G, NM_001318781.2:c.1829A>G, NM_001318781.1:c.1829A>G, NM_020249.2:c.1913A>G, XR_245151.1:n.2256A>G, XR_007095711.1:n.2172A>G, XR_007095712.1:n.2256A>G, NM_182921.1:c.1913A>G, NM_020249.1:c.1913A>G, NP_891550.1:p.Asn638Ser, NP_001305710.1:p.Asn610Ser

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