SNP Links for Protein (Select 13994244) - SNP

Links from Protein

Items: 1 to 20 of 157

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Select item 14893826151.

rs1489382615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:31071521 (GRCh38)
X:31089638 (GRCh37)
Canonical SPDI:: NC_000023.11:31071520:T:C
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.31071521T>C, NC_000023.10:g.31089638T>C, NG_015850.1:g.5533A>G, NM_031894.3:c.433A>G, NM_031894.2:c.433A>G, NP_114100.1:p.Thr145Ala

Select item 14867503202.

rs1486750320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:31071862 (GRCh38)
X:31089979 (GRCh37)
Canonical SPDI:: NC_000023.11:31071861:G:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.31071862G>A, NC_000023.10:g.31089979G>A, NG_015850.1:g.5192C>T, NM_031894.3:c.92C>T, NM_031894.2:c.92C>T, NP_114100.1:p.Thr31Ile

Select item 14444598393.

rs1444459839 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACAGGTAGG>- [Show Flanks]
Chromosome:: X:31071850 (GRCh38)
X:31089967 (GRCh37)
Canonical SPDI:: NC_000023.11:31071846:AGGTACAGGTAGG:AGG
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.31071850_31071859del, NC_000023.10:g.31089967_31089976del, NG_015850.1:g.5198_5207del, NM_031894.3:c.98_107del, NM_031894.2:c.98_107del, NP_114100.1:p.Tyr33fs

Select item 14439199144.

rs1443919914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:31071795 (GRCh38)
X:31089912 (GRCh37)
Canonical SPDI:: NC_000023.11:31071794:G:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000023.11:g.31071795G>A, NC_000023.10:g.31089912G>A, NG_015850.1:g.5259C>T, NM_031894.3:c.159C>T, NM_031894.2:c.159C>T

Select item 14315012395.

rs1431501239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:31071651 (GRCh38)
X:31089768 (GRCh37)
Canonical SPDI:: NC_000023.11:31071650:C:A
Gene:: FTHL17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.31071651C>A, NC_000023.10:g.31089768C>A, NG_015850.1:g.5403G>T, NM_031894.3:c.303G>T, NM_031894.2:c.303G>T, NP_114100.1:p.Met101Ile

Select item 14238108056.

rs1423810805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:31071405 (GRCh38)
X:31089522 (GRCh37)
Canonical SPDI:: NC_000023.11:31071404:A:G
Gene:: FTHL17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.31071405A>G, NC_000023.10:g.31089522A>G, NG_015850.1:g.5649T>C, NM_031894.3:c.549T>C, NM_031894.2:c.549T>C

Select item 14122620627.

rs1412262062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:31071416 (GRCh38)
X:31089533 (GRCh37)
Canonical SPDI:: NC_000023.11:31071415:C:T
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.31071416C>T, NC_000023.10:g.31089533C>T, NG_015850.1:g.5638G>A, NM_031894.3:c.538G>A, NM_031894.2:c.538G>A, NP_114100.1:p.Val180Ile

Select item 14016362228.

rs1401636222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:31071497 (GRCh38)
X:31089614 (GRCh37)
Canonical SPDI:: NC_000023.11:31071496:C:G
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.31071497C>G, NC_000023.10:g.31089614C>G, NG_015850.1:g.5557G>C, NM_031894.3:c.457G>C, NM_031894.2:c.457G>C, NP_114100.1:p.Val153Leu

Select item 13981241059.

rs1398124105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:31071820 (GRCh38)
X:31089937 (GRCh37)
Canonical SPDI:: NC_000023.11:31071819:T:G
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.31071820T>G, NC_000023.10:g.31089937T>G, NG_015850.1:g.5234A>C, NM_031894.3:c.134A>C, NM_031894.2:c.134A>C, NP_114100.1:p.Asp45Ala

Select item 139517062210.

rs1395170622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:31071922 (GRCh38)
X:31090039 (GRCh37)
Canonical SPDI:: NC_000023.11:31071921:T:C
Gene:: FTHL17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.31071922T>C, NC_000023.10:g.31090039T>C, NG_015850.1:g.5132A>G, NM_031894.3:c.32A>G, NM_031894.2:c.32A>G, NP_114100.1:p.Gln11Arg

Select item 139195659811.

rs1391956598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:31071743 (GRCh38)
X:31089860 (GRCh37)
Canonical SPDI:: NC_000023.11:31071742:T:C
Gene:: FTHL17 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.31071743T>C, NC_000023.10:g.31089860T>C, NG_015850.1:g.5311A>G, NM_031894.3:c.211A>G, NM_031894.2:c.211A>G, NP_114100.1:p.Met71Val

Select item 138846140512.

rs1388461405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:31071621 (GRCh38)
X:31089738 (GRCh37)
Canonical SPDI:: NC_000023.11:31071620:G:C
Gene:: FTHL17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.31071621G>C, NC_000023.10:g.31089738G>C, NG_015850.1:g.5433C>G, NM_031894.3:c.333C>G, NM_031894.2:c.333C>G

Select item 136471002113.

rs1364710021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:31071692 (GRCh38)
X:31089809 (GRCh37)
Canonical SPDI:: NC_000023.11:31071691:T:C
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.31071692T>C, NC_000023.10:g.31089809T>C, NG_015850.1:g.5362A>G, NM_031894.3:c.262A>G, NM_031894.2:c.262A>G, NP_114100.1:p.Lys88Glu

Select item 136082513314.

rs1360825133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:31071937 (GRCh38)
X:31090054 (GRCh37)
Canonical SPDI:: NC_000023.11:31071936:G:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.31071937G>A, NC_000023.10:g.31090054G>A, NG_015850.1:g.5117C>T, NM_031894.3:c.17C>T, NM_031894.2:c.17C>T, NP_114100.1:p.Pro6Leu

Select item 135663966115.

rs1356639661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:31071423 (GRCh38)
X:31089540 (GRCh37)
Canonical SPDI:: NC_000023.11:31071422:G:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.31071423G>A, NC_000023.10:g.31089540G>A, NG_015850.1:g.5631C>T, NM_031894.3:c.531C>T, NM_031894.2:c.531C>T

Select item 135471150716.

rs1354711507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:31071673 (GRCh38)
X:31089790 (GRCh37)
Canonical SPDI:: NC_000023.11:31071672:C:T
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.31071673C>T, NC_000023.10:g.31089790C>T, NG_015850.1:g.5381G>A, NM_031894.3:c.281G>A, NM_031894.2:c.281G>A, NP_114100.1:p.Trp94Ter

Select item 134930494917.

rs1349304949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:31071475 (GRCh38)
X:31089592 (GRCh37)
Canonical SPDI:: NC_000023.11:31071474:C:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.31071475C>A, NC_000023.10:g.31089592C>A, NG_015850.1:g.5579G>T, NM_031894.3:c.479G>T, NM_031894.2:c.479G>T, NP_114100.1:p.Cys160Phe

Select item 134866158518.

rs1348661585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:31071485 (GRCh38)
X:31089602 (GRCh37)
Canonical SPDI:: NC_000023.11:31071484:G:A,NC_000023.11:31071484:G:T
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.31071485G>A, NC_000023.11:g.31071485G>T, NC_000023.10:g.31089602G>A, NC_000023.10:g.31089602G>T, NG_015850.1:g.5569C>T, NG_015850.1:g.5569C>A, NM_031894.3:c.469C>T, NM_031894.3:c.469C>A, NM_031894.2:c.469C>T, NM_031894.2:c.469C>A, NP_114100.1:p.Arg157Cys, NP_114100.1:p.Arg157Ser

Select item 134626128619.

rs1346261286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:31071554 (GRCh38)
X:31089671 (GRCh37)
Canonical SPDI:: NC_000023.11:31071553:G:A
Gene:: FTHL17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.31071554G>A, NC_000023.10:g.31089671G>A, NG_015850.1:g.5500C>T, NM_031894.3:c.400C>T, NM_031894.2:c.400C>T

Select item 134375717620.

rs1343757176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:31071806 (GRCh38)
X:31089923 (GRCh37)
Canonical SPDI:: NC_000023.11:31071805:C:T
Gene:: FTHL17 (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=0.00001/1 (GnomAD)
T=0.00081/10 (TOMMO)
HGVS:: NC_000023.11:g.31071806C>T, NC_000023.10:g.31089923C>T, NG_015850.1:g.5248G>A, NM_031894.3:c.148G>A, NM_031894.2:c.148G>A, NP_114100.1:p.Glu50Lys

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