SNP Links for Protein (Select 30425460) - SNP

Links from Protein

Items: 1 to 20 of 567

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Select item 14875174671.

rs1487517467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7437393 (GRCh38)
17:7340712 (GRCh37)
Canonical SPDI:: NC_000017.11:7437392:G:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.7437393G>T, NC_000017.10:g.7340712G>T, NW_016107299.1:g.57850G>T, NM_178518.3:c.1414G>T, NM_178518.2:c.1414G>T, NM_001320444.1:c.1414G>T, NP_848613.1:p.Glu472Ter, NP_001307373.1:p.Glu472Ter

Select item 14858332572.

rs1485833257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7437337 (GRCh38)
17:7340656 (GRCh37)
Canonical SPDI:: NC_000017.11:7437336:A:G
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000017.11:g.7437337A>G, NC_000017.10:g.7340656A>G, NW_016107299.1:g.57794A>G, NM_178518.3:c.1358A>G, NM_178518.2:c.1358A>G, NM_001320444.1:c.1358A>G, NP_848613.1:p.Tyr453Cys, NP_001307373.1:p.Tyr453Cys

Select item 14797575713.

rs1479757571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7437449 (GRCh38)
17:7340768 (GRCh37)
Canonical SPDI:: NC_000017.11:7437448:G:C
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.7437449G>C, NC_000017.10:g.7340768G>C, NW_016107299.1:g.57906G>C, NM_178518.3:c.1470G>C, NM_178518.2:c.1470G>C, NM_001320444.1:c.1470G>C, NP_848613.1:p.Glu490Asp, NP_001307373.1:p.Glu490Asp

Select item 14772678844.

rs1477267884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7436431 (GRCh38)
17:7339750 (GRCh37)
Canonical SPDI:: NC_000017.11:7436430:G:C
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7436431G>C, NC_000017.10:g.7339750G>C, NW_016107299.1:g.56888G>C, NM_178518.3:c.452G>C, NM_178518.2:c.452G>C, NM_001320444.1:c.452G>C, NP_848613.1:p.Cys151Ser, NP_001307373.1:p.Cys151Ser

Select item 14763242235.

rs1476324223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7436931 (GRCh38)
17:7340250 (GRCh37)
Canonical SPDI:: NC_000017.11:7436930:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7436931C>T, NC_000017.10:g.7340250C>T, NW_016107299.1:g.57388C>T, NM_178518.3:c.952C>T, NM_178518.2:c.952C>T, NM_001320444.1:c.952C>T

Select item 14744271466.

rs1474427146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7437247 (GRCh38)
17:7340566 (GRCh37)
Canonical SPDI:: NC_000017.11:7437246:A:C
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7437247A>C, NC_000017.10:g.7340566A>C, NW_016107299.1:g.57704A>C, NM_178518.3:c.1268A>C, NM_178518.2:c.1268A>C, NM_001320444.1:c.1268A>C, NP_848613.1:p.Tyr423Ser, NP_001307373.1:p.Tyr423Ser

Select item 14734506387.

rs1473450638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7436740 (GRCh38)
17:7340059 (GRCh37)
Canonical SPDI:: NC_000017.11:7436739:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7436740C>T, NC_000017.10:g.7340059C>T, NW_016107299.1:g.57197C>T, NM_178518.3:c.761C>T, NM_178518.2:c.761C>T, NM_001320444.1:c.761C>T, NP_848613.1:p.Ala254Val, NP_001307373.1:p.Ala254Val

Select item 14722833768.

rs1472283376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7436837 (GRCh38)
17:7340156 (GRCh37)
Canonical SPDI:: NC_000017.11:7436836:T:G
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7436837T>G, NC_000017.10:g.7340156T>G, NW_016107299.1:g.57294T>G, NM_178518.3:c.858T>G, NM_178518.2:c.858T>G, NM_001320444.1:c.858T>G

Select item 14717401059.

rs1471740105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:7436237 (GRCh38)
17:7339556 (GRCh37)
Canonical SPDI:: NC_000017.11:7436236:G:A,NC_000017.11:7436236:G:C
Gene:: TMEM102 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_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_000017.11:g.7436237G>A, NC_000017.11:g.7436237G>C, NC_000017.10:g.7339556G>A, NC_000017.10:g.7339556G>C, NW_016107299.1:g.56694G>A, NW_016107299.1:g.56694G>C, NM_178518.3:c.258G>A, NM_178518.3:c.258G>C, NM_178518.2:c.258G>A, NM_178518.2:c.258G>C, NM_001320444.1:c.258G>A, NM_001320444.1:c.258G>C, NP_848613.1:p.Glu86Asp, NP_001307373.1:p.Glu86Asp

Select item 146866311510.

rs1468663115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7437127 (GRCh38)
17:7340446 (GRCh37)
Canonical SPDI:: NC_000017.11:7437126:T:A
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_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_000017.11:g.7437127T>A, NC_000017.10:g.7340446T>A, NW_016107299.1:g.57584T>A, NM_178518.3:c.1148T>A, NM_178518.2:c.1148T>A, NM_001320444.1:c.1148T>A, NP_848613.1:p.Leu383Gln, NP_001307373.1:p.Leu383Gln

Select item 146552404711.

rs1465524047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7436440 (GRCh38)
17:7339759 (GRCh37)
Canonical SPDI:: NC_000017.11:7436439:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7436440C>T, NC_000017.10:g.7339759C>T, NW_016107299.1:g.56897C>T, NM_178518.3:c.461C>T, NM_178518.2:c.461C>T, NM_001320444.1:c.461C>T, NP_848613.1:p.Pro154Leu, NP_001307373.1:p.Pro154Leu

Select item 146542108612.

rs1465421086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7437423 (GRCh38)
17:7340742 (GRCh37)
Canonical SPDI:: NC_000017.11:7437422:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00011/1 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7437423C>T, NC_000017.10:g.7340742C>T, NW_016107299.1:g.57880C>T, NM_178518.3:c.1444C>T, NM_178518.2:c.1444C>T, NM_001320444.1:c.1444C>T, NP_848613.1:p.Arg482Trp, NP_001307373.1:p.Arg482Trp

Select item 146415946213.

rs1464159462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7436442 (GRCh38)
17:7339761 (GRCh37)
Canonical SPDI:: NC_000017.11:7436441:A:G
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7436442A>G, NC_000017.10:g.7339761A>G, NW_016107299.1:g.56899A>G, NM_178518.3:c.463A>G, NM_178518.2:c.463A>G, NM_001320444.1:c.463A>G, NP_848613.1:p.Ile155Val, NP_001307373.1:p.Ile155Val

Select item 146025099614.

rs1460250996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7437297 (GRCh38)
17:7340616 (GRCh37)
Canonical SPDI:: NC_000017.11:7437296:G:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7437297G>T, NC_000017.10:g.7340616G>T, NW_016107299.1:g.57754G>T, NM_178518.3:c.1318G>T, NM_178518.2:c.1318G>T, NM_001320444.1:c.1318G>T, NP_848613.1:p.Glu440Ter, NP_001307373.1:p.Glu440Ter

Select item 145959826015.

rs1459598260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7437238 (GRCh38)
17:7340557 (GRCh37)
Canonical SPDI:: NC_000017.11:7437237:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7437238C>T, NC_000017.10:g.7340557C>T, NW_016107299.1:g.57695C>T, NM_178518.3:c.1259C>T, NM_178518.2:c.1259C>T, NM_001320444.1:c.1259C>T, NP_848613.1:p.Pro420Leu, NP_001307373.1:p.Pro420Leu

Select item 145956905716.

rs1459569057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7435897 (GRCh38)
17:7339216 (GRCh37)
Canonical SPDI:: NC_000017.11:7435896:C:T
Gene:: TMEM102 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7435897C>T, NC_000017.10:g.7339216C>T, NW_016107299.1:g.56354C>T, NM_178518.3:c.26C>T, NM_178518.2:c.26C>T, NM_001320444.1:c.26C>T, NP_848613.1:p.Ala9Val, NP_001307373.1:p.Ala9Val

Select item 145908592517.

rs1459085925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7436326 (GRCh38)
17:7339645 (GRCh37)
Canonical SPDI:: NC_000017.11:7436325:A:G
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.7436326A>G, NC_000017.10:g.7339645A>G, NW_016107299.1:g.56783A>G, NM_178518.3:c.347A>G, NM_178518.2:c.347A>G, NM_001320444.1:c.347A>G, NP_848613.1:p.Asp116Gly, NP_001307373.1:p.Asp116Gly

Select item 145866569318.

rs1458665693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7436892 (GRCh38)
17:7340211 (GRCh37)
Canonical SPDI:: NC_000017.11:7436891:G:A
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7436892G>A, NC_000017.10:g.7340211G>A, NW_016107299.1:g.57349G>A, NM_178518.3:c.913G>A, NM_178518.2:c.913G>A, NM_001320444.1:c.913G>A, NP_848613.1:p.Ala305Thr, NP_001307373.1:p.Ala305Thr

Select item 145661999919.

rs1456619999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:7436756 (GRCh38)
17:7340075 (GRCh37)
Canonical SPDI:: NC_000017.11:7436755:C:A,NC_000017.11:7436755:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7436756C>A, NC_000017.11:g.7436756C>T, NC_000017.10:g.7340075C>A, NC_000017.10:g.7340075C>T, NW_016107299.1:g.57213C>A, NW_016107299.1:g.57213C>T, NM_178518.3:c.777C>A, NM_178518.3:c.777C>T, NM_178518.2:c.777C>A, NM_178518.2:c.777C>T, NM_001320444.1:c.777C>A, NM_001320444.1:c.777C>T

Select item 145271895620.

rs1452718956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7437429 (GRCh38)
17:7340748 (GRCh37)
Canonical SPDI:: NC_000017.11:7437428:C:T
Gene:: FGF11 (Varview), TMEM102 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7437429C>T, NC_000017.10:g.7340748C>T, NW_016107299.1:g.57886C>T, NM_178518.3:c.1450C>T, NM_178518.2:c.1450C>T, NM_001320444.1:c.1450C>T, NP_848613.1:p.Leu484Phe, NP_001307373.1:p.Leu484Phe

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