SNP Links for Protein (Select 1034597641) - SNP

Select item 14902044971.

rs1490204497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78164132 (GRCh38)
17:76160213 (GRCh37)
Canonical SPDI:: NC_000017.11:78164131:G:A
Gene:: C17orf99 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,splice_acceptor_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.78164132G>A, NC_000017.10:g.76160213G>A, XM_011524152.3:c.537G>A, XM_011524152.2:c.420G>A, XM_011524152.1:c.420G>A, XM_017023997.2:c.537G>A, XM_017023997.1:c.420G>A, XM_017024001.2:c.60G>A, XM_017024001.1:c.60G>A, XM_017024000.2:c.60G>A, XM_017024000.1:c.60G>A, NM_001163075.2:c.408G>A, NM_001163075.1:c.408G>A, XM_017023998.2:c.408G>A, XM_017023998.1:c.408G>A, XM_017023999.2:c.108G>A, XM_017023999.1:c.108G>A, XM_047435058.1:c.537G>A, XM_047435060.1:c.408G>A

Select item 14874697762.

rs1487469776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:78165985 (GRCh38)
17:76162066 (GRCh37)
Canonical SPDI:: NC_000017.11:78165984:A:G
Gene:: C17orf99 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000017.11:g.78165985A>G, NC_000017.10:g.76162066A>G, XM_011524152.3:c.866A>G, XM_011524152.2:c.749A>G, XM_011524152.1:c.749A>G, XM_017024001.2:c.389A>G, XM_017024001.1:c.389A>G, XM_017024000.2:c.389A>G, XM_017024000.1:c.389A>G, NM_001163075.2:c.737A>G, NM_001163075.1:c.737A>G, XM_017023999.2:c.437A>G, XM_017023999.1:c.437A>G, XM_047435058.1:c.*90A>G, XM_047435061.1:c.*90A>G, XM_047435059.1:c.*10A>G, XM_047435062.1:c.374A>G, XM_047435060.1:c.*90A>G, XP_011522454.2:p.Glu289Gly, XP_016879490.1:p.Glu130Gly, XP_016879489.1:p.Glu130Gly, NP_001156547.1:p.Glu246Gly, XP_016879488.1:p.Glu146Gly, XP_047291018.1:p.Glu125Gly

Select item 14832506203.

rs1483250620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:78164344 (GRCh38)
17:76160425 (GRCh37)
Canonical SPDI:: NC_000017.11:78164343:C:A
Gene:: C17orf99 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.78164344C>A, NC_000017.10:g.76160425C>A, XM_011524152.3:c.749C>A, XM_011524152.2:c.632C>A, XM_011524152.1:c.632C>A, XM_017023997.2:c.749C>A, XM_017023997.1:c.632C>A, XM_017024001.2:c.272C>A, XM_017024001.1:c.272C>A, XM_017024000.2:c.272C>A, XM_017024000.1:c.272C>A, NM_001163075.2:c.620C>A, NM_001163075.1:c.620C>A, XM_017023998.2:c.620C>A, XM_017023998.1:c.620C>A, XM_017023999.2:c.320C>A, XM_017023999.1:c.320C>A, XM_047435058.1:c.749C>A, XM_047435061.1:c.711C>A, XM_047435059.1:c.555C>A, XM_047435062.1:c.257C>A, XM_047435060.1:c.620C>A, XP_011522454.2:p.Ala250Asp, XP_016879486.2:p.Ala250Asp, XP_016879490.1:p.Ala91Asp, XP_016879489.1:p.Ala91Asp, NP_001156547.1:p.Ala207Asp, XP_016879487.1:p.Ala207Asp, XP_016879488.1:p.Ala107Asp, XP_047291014.1:p.Ala250Asp, XP_047291018.1:p.Ala86Asp, XP_047291016.1:p.Ala207Asp

Select item 14826875034.

rs1482687503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78164361 (GRCh38)
17:76160442 (GRCh37)
Canonical SPDI:: NC_000017.11:78164360:C:T
Gene:: C17orf99 (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_000017.11:g.78164361C>T, NC_000017.10:g.76160442C>T, XM_011524152.3:c.766C>T, XM_011524152.2:c.649C>T, XM_011524152.1:c.649C>T, XM_017023997.2:c.766C>T, XM_017023997.1:c.649C>T, XM_017024001.2:c.289C>T, XM_017024001.1:c.289C>T, XM_017024000.2:c.289C>T, XM_017024000.1:c.289C>T, NM_001163075.2:c.637C>T, NM_001163075.1:c.637C>T, XM_017023998.2:c.637C>T, XM_017023998.1:c.637C>T, XM_017023999.2:c.337C>T, XM_017023999.1:c.337C>T, XM_047435058.1:c.766C>T, XM_047435061.1:c.728C>T, XM_047435059.1:c.572C>T, XM_047435062.1:c.274C>T, XM_047435060.1:c.637C>T, XP_011522454.2:p.Pro256Ser, XP_016879486.2:p.Pro256Ser, XP_016879490.1:p.Pro97Ser, XP_016879489.1:p.Pro97Ser, NP_001156547.1:p.Pro213Ser, XP_016879487.1:p.Pro213Ser, XP_016879488.1:p.Pro113Ser, XP_047291014.1:p.Pro256Ser, XP_047291017.1:p.Pro243Leu, XP_047291015.1:p.Pro191Leu, XP_047291018.1:p.Pro92Ser, XP_047291016.1:p.Pro213Ser

Select item 14789495265.

rs1478949526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78166001 (GRCh38)
17:76162082 (GRCh37)
Canonical SPDI:: NC_000017.11:78166000:G:A
Gene:: C17orf99 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.78166001G>A, NC_000017.10:g.76162082G>A, XM_011524152.3:c.882G>A, XM_011524152.2:c.765G>A, XM_011524152.1:c.765G>A, XM_017024001.2:c.405G>A, XM_017024001.1:c.405G>A, XM_017024000.2:c.405G>A, XM_017024000.1:c.405G>A, NM_001163075.2:c.753G>A, NM_001163075.1:c.753G>A, XM_017023999.2:c.453G>A, XM_017023999.1:c.453G>A, XM_047435058.1:c.*106G>A, XM_047435061.1:c.*106G>A, XM_047435059.1:c.*26G>A, XM_047435062.1:c.390G>A, XM_047435060.1:c.*106G>A

Select item 14785878666.

rs1478587866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:78164358 (GRCh38)
17:76160439 (GRCh37)
Canonical SPDI:: NC_000017.11:78164357:C:A,NC_000017.11:78164357:C:T
Gene:: C17orf99 (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)
HGVS:: NC_000017.11:g.78164358C>A, NC_000017.11:g.78164358C>T, NC_000017.10:g.76160439C>A, NC_000017.10:g.76160439C>T, XM_011524152.3:c.763C>A, XM_011524152.3:c.763C>T, XM_011524152.2:c.646C>A, XM_011524152.2:c.646C>T, XM_011524152.1:c.646C>A, XM_011524152.1:c.646C>T, XM_017023997.2:c.763C>A, XM_017023997.2:c.763C>T, XM_017023997.1:c.646C>A, XM_017023997.1:c.646C>T, XM_017024001.2:c.286C>A, XM_017024001.2:c.286C>T, XM_017024001.1:c.286C>A, XM_017024001.1:c.286C>T, XM_017024000.2:c.286C>A, XM_017024000.2:c.286C>T, XM_017024000.1:c.286C>A, XM_017024000.1:c.286C>T, NM_001163075.2:c.634C>A, NM_001163075.2:c.634C>T, NM_001163075.1:c.634C>A, NM_001163075.1:c.634C>T, XM_017023998.2:c.634C>A, XM_017023998.2:c.634C>T, XM_017023998.1:c.634C>A, XM_017023998.1:c.634C>T, XM_017023999.2:c.334C>A, XM_017023999.2:c.334C>T, XM_017023999.1:c.334C>A, XM_017023999.1:c.334C>T, XM_047435058.1:c.763C>A, XM_047435058.1:c.763C>T, XM_047435061.1:c.725C>A, XM_047435061.1:c.725C>T, XM_047435059.1:c.569C>A, XM_047435059.1:c.569C>T, XM_047435062.1:c.271C>A, XM_047435062.1:c.271C>T, XM_047435060.1:c.634C>A, XM_047435060.1:c.634C>T, XP_011522454.2:p.Pro255Thr, XP_011522454.2:p.Pro255Ser, XP_016879486.2:p.Pro255Thr, XP_016879486.2:p.Pro255Ser, XP_016879490.1:p.Pro96Thr, XP_016879490.1:p.Pro96Ser, XP_016879489.1:p.Pro96Thr, XP_016879489.1:p.Pro96Ser, NP_001156547.1:p.Pro212Thr, NP_001156547.1:p.Pro212Ser, XP_016879487.1:p.Pro212Thr, XP_016879487.1:p.Pro212Ser, XP_016879488.1:p.Pro112Thr, XP_016879488.1:p.Pro112Ser, XP_047291014.1:p.Pro255Thr, XP_047291014.1:p.Pro255Ser, XP_047291017.1:p.Ala242Asp, XP_047291017.1:p.Ala242Val, XP_047291015.1:p.Ala190Asp, XP_047291015.1:p.Ala190Val, XP_047291018.1:p.Pro91Thr, XP_047291018.1:p.Pro91Ser, XP_047291016.1:p.Pro212Thr, XP_047291016.1:p.Pro212Ser

Select item 14769527097.

rs1476952709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78165924 (GRCh38)
17:76162005 (GRCh37)
Canonical SPDI:: NC_000017.11:78165923:C:T
Gene:: C17orf99 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78165924C>T, NC_000017.10:g.76162005C>T, XM_011524152.3:c.805C>T, XM_011524152.2:c.688C>T, XM_011524152.1:c.688C>T, XM_017024001.2:c.328C>T, XM_017024001.1:c.328C>T, XM_017024000.2:c.328C>T, XM_017024000.1:c.328C>T, NM_001163075.2:c.676C>T, NM_001163075.1:c.676C>T, XM_017023999.2:c.376C>T, XM_017023999.1:c.376C>T, XM_047435058.1:c.*29C>T, XM_047435061.1:c.*29C>T, XM_047435059.1:c.708C>T, XM_047435062.1:c.313C>T, XM_047435060.1:c.*29C>T

Select item 14742871498.

rs1474287149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:78164130 (GRCh38)
17:76160211 (GRCh37)
Canonical SPDI:: NC_000017.11:78164129:C:A
Gene:: C17orf99 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.78164130C>A, NC_000017.10:g.76160211C>A, XM_011524152.3:c.535C>A, XM_011524152.2:c.418C>A, XM_011524152.1:c.418C>A, XM_017023997.2:c.535C>A, XM_017023997.1:c.418C>A, XM_017024001.2:c.58C>A, XM_017024001.1:c.58C>A, XM_017024000.2:c.58C>A, XM_017024000.1:c.58C>A, NM_001163075.2:c.406C>A, NM_001163075.1:c.406C>A, XM_017023998.2:c.406C>A, XM_017023998.1:c.406C>A, XM_017023999.2:c.106C>A, XM_017023999.1:c.106C>A, XM_047435058.1:c.535C>A, XM_047435060.1:c.406C>A, XP_011522454.2:p.Gln179Lys, XP_016879486.2:p.Gln179Lys, XP_016879490.1:p.Gln20Lys, XP_016879489.1:p.Gln20Lys, NP_001156547.1:p.Gln136Lys, XP_016879487.1:p.Gln136Lys, XP_016879488.1:p.Gln36Lys, XP_047291014.1:p.Gln179Lys, XP_047291016.1:p.Gln136Lys

Select item 14673419089.

rs1467341908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:78166046 (GRCh38)
17:76162127 (GRCh37)
Canonical SPDI:: NC_000017.11:78166045:G:C
Gene:: C17orf99 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,terminator_codon_variant,stop_lost,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78166046G>C, NC_000017.10:g.76162127G>C, XM_011524152.3:c.927G>C, XM_011524152.2:c.810G>C, XM_011524152.1:c.810G>C, XM_017024001.2:c.450G>C, XM_017024001.1:c.450G>C, XM_017024000.2:c.450G>C, XM_017024000.1:c.450G>C, NM_001163075.2:c.798G>C, NM_001163075.1:c.798G>C, XM_017023999.2:c.498G>C, XM_017023999.1:c.498G>C, XM_047435058.1:c.*151G>C, XM_047435061.1:c.*151G>C, XM_047435059.1:c.*71G>C, XM_047435062.1:c.435G>C, XM_047435060.1:c.*151G>C, XP_011522454.2:p.Ter309Tyr, XP_016879490.1:p.Ter150Tyr, XP_016879489.1:p.Ter150Tyr, NP_001156547.1:p.Ter266Tyr, XP_016879488.1:p.Ter166Tyr, XP_047291018.1:p.Ter145Tyr

Select item 146427571910.

rs1464275719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78164219 (GRCh38)
17:76160300 (GRCh37)
Canonical SPDI:: NC_000017.11:78164218:T:C
Gene:: C17orf99 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78164219T>C, NC_000017.10:g.76160300T>C, XM_011524152.3:c.624T>C, XM_011524152.2:c.507T>C, XM_011524152.1:c.507T>C, XM_017023997.2:c.624T>C, XM_017023997.1:c.507T>C, XM_017024001.2:c.147T>C, XM_017024001.1:c.147T>C, XM_017024000.2:c.147T>C, XM_017024000.1:c.147T>C, NM_001163075.2:c.495T>C, NM_001163075.1:c.495T>C, XM_017023998.2:c.495T>C, XM_017023998.1:c.495T>C, XM_017023999.2:c.195T>C, XM_017023999.1:c.195T>C, XM_047435058.1:c.624T>C, XM_047435061.1:c.586T>C, XM_047435059.1:c.430T>C, XM_047435062.1:c.132T>C, XM_047435060.1:c.495T>C, XP_047291017.1:p.Trp196Arg, XP_047291015.1:p.Trp144Arg

Select item 146079991511.

rs1460799915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:78164258 (GRCh38)
17:76160339 (GRCh37)
Canonical SPDI:: NC_000017.11:78164257:G:T
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164258G>T, NC_000017.10:g.76160339G>T, XM_011524152.3:c.663G>T, XM_011524152.2:c.546G>T, XM_011524152.1:c.546G>T, XM_017023997.2:c.663G>T, XM_017023997.1:c.546G>T, XM_017024001.2:c.186G>T, XM_017024001.1:c.186G>T, XM_017024000.2:c.186G>T, XM_017024000.1:c.186G>T, NM_001163075.2:c.534G>T, NM_001163075.1:c.534G>T, XM_017023998.2:c.534G>T, XM_017023998.1:c.534G>T, XM_017023999.2:c.234G>T, XM_017023999.1:c.234G>T, XM_047435058.1:c.663G>T, XM_047435061.1:c.625G>T, XM_047435059.1:c.469G>T, XM_047435062.1:c.171G>T, XM_047435060.1:c.534G>T, XP_011522454.2:p.Gln221His, XP_016879486.2:p.Gln221His, XP_016879490.1:p.Gln62His, XP_016879489.1:p.Gln62His, NP_001156547.1:p.Gln178His, XP_016879487.1:p.Gln178His, XP_016879488.1:p.Gln78His, XP_047291014.1:p.Gln221His, XP_047291017.1:p.Ala209Ser, XP_047291015.1:p.Ala157Ser, XP_047291018.1:p.Gln57His, XP_047291016.1:p.Gln178His

Select item 145806884612.

rs1458068846 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:78164210 (GRCh38)
17:76160291 (GRCh37)
Canonical SPDI:: NC_000017.11:78164209:C:
Gene:: C17orf99 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164210del, NC_000017.10:g.76160291del, XM_011524152.3:c.615del, XM_011524152.2:c.498del, XM_011524152.1:c.498del, XM_017023997.2:c.615del, XM_017023997.1:c.498del, XM_017024001.2:c.138del, XM_017024001.1:c.138del, XM_017024000.2:c.138del, XM_017024000.1:c.138del, NM_001163075.2:c.486del, NM_001163075.1:c.486del, XM_017023998.2:c.486del, XM_017023998.1:c.486del, XM_017023999.2:c.186del, XM_017023999.1:c.186del, XM_047435058.1:c.615del, XM_047435061.1:c.577del, XM_047435059.1:c.421del, XM_047435062.1:c.123del, XM_047435060.1:c.486del, XP_011522454.2:p.Ile205fs, XP_016879486.2:p.Ile205fs, XP_016879490.1:p.Ile46fs, XP_016879489.1:p.Ile46fs, NP_001156547.1:p.Ile162fs, XP_016879487.1:p.Ile162fs, XP_016879488.1:p.Ile62fs, XP_047291014.1:p.Ile205fs, XP_047291017.1:p.Arg193fs, XP_047291015.1:p.Arg141fs, XP_047291018.1:p.Ile41fs, XP_047291016.1:p.Ile162fs

Select item 145623628013.

rs1456236280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:78164249 (GRCh38)
17:76160330 (GRCh37)
Canonical SPDI:: NC_000017.11:78164248:C:A,NC_000017.11:78164248:C:T
Gene:: C17orf99 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164249C>A, NC_000017.11:g.78164249C>T, NC_000017.10:g.76160330C>A, NC_000017.10:g.76160330C>T, XM_011524152.3:c.654C>A, XM_011524152.3:c.654C>T, XM_011524152.2:c.537C>A, XM_011524152.2:c.537C>T, XM_011524152.1:c.537C>A, XM_011524152.1:c.537C>T, XM_017023997.2:c.654C>A, XM_017023997.2:c.654C>T, XM_017023997.1:c.537C>A, XM_017023997.1:c.537C>T, XM_017024001.2:c.177C>A, XM_017024001.2:c.177C>T, XM_017024001.1:c.177C>A, XM_017024001.1:c.177C>T, XM_017024000.2:c.177C>A, XM_017024000.2:c.177C>T, XM_017024000.1:c.177C>A, XM_017024000.1:c.177C>T, NM_001163075.2:c.525C>A, NM_001163075.2:c.525C>T, NM_001163075.1:c.525C>A, NM_001163075.1:c.525C>T, XM_017023998.2:c.525C>A, XM_017023998.2:c.525C>T, XM_017023998.1:c.525C>A, XM_017023998.1:c.525C>T, XM_017023999.2:c.225C>A, XM_017023999.2:c.225C>T, XM_017023999.1:c.225C>A, XM_017023999.1:c.225C>T, XM_047435058.1:c.654C>A, XM_047435058.1:c.654C>T, XM_047435061.1:c.616C>A, XM_047435061.1:c.616C>T, XM_047435059.1:c.460C>A, XM_047435059.1:c.460C>T, XM_047435062.1:c.162C>A, XM_047435062.1:c.162C>T, XM_047435060.1:c.525C>A, XM_047435060.1:c.525C>T, XP_011522454.2:p.Cys218Ter, XP_016879486.2:p.Cys218Ter, XP_016879490.1:p.Cys59Ter, XP_016879489.1:p.Cys59Ter, NP_001156547.1:p.Cys175Ter, XP_016879487.1:p.Cys175Ter, XP_016879488.1:p.Cys75Ter, XP_047291014.1:p.Cys218Ter, XP_047291017.1:p.Pro206Thr, XP_047291017.1:p.Pro206Ser, XP_047291015.1:p.Pro154Thr, XP_047291015.1:p.Pro154Ser, XP_047291018.1:p.Cys54Ter, XP_047291016.1:p.Cys175Ter

Select item 145150857414.

rs1451508574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:78164111 (GRCh38)
17:76160192 (GRCh37)
Canonical SPDI:: NC_000017.11:78164110:G:T
Gene:: C17orf99 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164111G>T, NC_000017.10:g.76160192G>T, XM_011524152.3:c.516G>T, XM_011524152.2:c.399G>T, XM_011524152.1:c.399G>T, XM_017023997.2:c.516G>T, XM_017023997.1:c.399G>T, XM_017024001.2:c.39G>T, XM_017024001.1:c.39G>T, XM_017024000.2:c.39G>T, XM_017024000.1:c.39G>T, NM_001163075.2:c.387G>T, NM_001163075.1:c.387G>T, XM_017023998.2:c.387G>T, XM_017023998.1:c.387G>T, XM_017023999.2:c.87G>T, XM_017023999.1:c.87G>T, XM_047435058.1:c.516G>T, XM_047435060.1:c.387G>T

Select item 145106173215.

rs1451061732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:78164291 (GRCh38)
17:76160372 (GRCh37)
Canonical SPDI:: NC_000017.11:78164290:A:T
Gene:: C17orf99 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164291A>T, NC_000017.10:g.76160372A>T, XM_011524152.3:c.696A>T, XM_011524152.2:c.579A>T, XM_011524152.1:c.579A>T, XM_017023997.2:c.696A>T, XM_017023997.1:c.579A>T, XM_017024001.2:c.219A>T, XM_017024001.1:c.219A>T, XM_017024000.2:c.219A>T, XM_017024000.1:c.219A>T, NM_001163075.2:c.567A>T, NM_001163075.1:c.567A>T, XM_017023998.2:c.567A>T, XM_017023998.1:c.567A>T, XM_017023999.2:c.267A>T, XM_017023999.1:c.267A>T, XM_047435058.1:c.696A>T, XM_047435061.1:c.658A>T, XM_047435059.1:c.502A>T, XM_047435062.1:c.204A>T, XM_047435060.1:c.567A>T, XP_047291017.1:p.Ile220Phe, XP_047291015.1:p.Ile168Phe

Select item 144967158316.

rs1449671583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:78164217 (GRCh38)
17:76160298 (GRCh37)
Canonical SPDI:: NC_000017.11:78164216:G:C
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78164217G>C, NC_000017.10:g.76160298G>C, XM_011524152.3:c.622G>C, XM_011524152.2:c.505G>C, XM_011524152.1:c.505G>C, XM_017023997.2:c.622G>C, XM_017023997.1:c.505G>C, XM_017024001.2:c.145G>C, XM_017024001.1:c.145G>C, XM_017024000.2:c.145G>C, XM_017024000.1:c.145G>C, NM_001163075.2:c.493G>C, NM_001163075.1:c.493G>C, XM_017023998.2:c.493G>C, XM_017023998.1:c.493G>C, XM_017023999.2:c.193G>C, XM_017023999.1:c.193G>C, XM_047435058.1:c.622G>C, XM_047435061.1:c.584G>C, XM_047435059.1:c.428G>C, XM_047435062.1:c.130G>C, XM_047435060.1:c.493G>C, XP_011522454.2:p.Asp208His, XP_016879486.2:p.Asp208His, XP_016879490.1:p.Asp49His, XP_016879489.1:p.Asp49His, NP_001156547.1:p.Asp165His, XP_016879487.1:p.Asp165His, XP_016879488.1:p.Asp65His, XP_047291014.1:p.Asp208His, XP_047291017.1:p.Gly195Ala, XP_047291015.1:p.Gly143Ala, XP_047291018.1:p.Asp44His, XP_047291016.1:p.Asp165His

Select item 144439090617.

rs1444390906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78164294 (GRCh38)
17:76160375 (GRCh37)
Canonical SPDI:: NC_000017.11:78164293:G:A
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78164294G>A, NC_000017.10:g.76160375G>A, XM_011524152.3:c.699G>A, XM_011524152.2:c.582G>A, XM_011524152.1:c.582G>A, XM_017023997.2:c.699G>A, XM_017023997.1:c.582G>A, XM_017024001.2:c.222G>A, XM_017024001.1:c.222G>A, XM_017024000.2:c.222G>A, XM_017024000.1:c.222G>A, NM_001163075.2:c.570G>A, NM_001163075.1:c.570G>A, XM_017023998.2:c.570G>A, XM_017023998.1:c.570G>A, XM_017023999.2:c.270G>A, XM_017023999.1:c.270G>A, XM_047435058.1:c.699G>A, XM_047435061.1:c.661G>A, XM_047435059.1:c.505G>A, XM_047435062.1:c.207G>A, XM_047435060.1:c.570G>A, XP_047291017.1:p.Gly221Arg, XP_047291015.1:p.Gly169Arg

Select item 144413991718.

rs1444139917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78165904 (GRCh38)
17:76161985 (GRCh37)
Canonical SPDI:: NC_000017.11:78165903:T:C
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000017.11:g.78165904T>C, NC_000017.10:g.76161985T>C, XM_011524152.3:c.785T>C, XM_011524152.2:c.668T>C, XM_011524152.1:c.668T>C, XM_017024001.2:c.308T>C, XM_017024001.1:c.308T>C, XM_017024000.2:c.308T>C, XM_017024000.1:c.308T>C, NM_001163075.2:c.656T>C, NM_001163075.1:c.656T>C, XM_017023999.2:c.356T>C, XM_017023999.1:c.356T>C, XM_047435058.1:c.*9T>C, XM_047435061.1:c.*9T>C, XM_047435059.1:c.688T>C, XM_047435062.1:c.293T>C, XM_047435060.1:c.*9T>C, XP_011522454.2:p.Met262Thr, XP_016879490.1:p.Met103Thr, XP_016879489.1:p.Met103Thr, NP_001156547.1:p.Met219Thr, XP_016879488.1:p.Met119Thr, XP_047291015.1:p.Trp230Arg, XP_047291018.1:p.Met98Thr

Select item 144340729119.

rs1443407291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:78164197 (GRCh38)
17:76160278 (GRCh37)
Canonical SPDI:: NC_000017.11:78164196:C:A
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.78164197C>A, NC_000017.10:g.76160278C>A, XM_011524152.3:c.602C>A, XM_011524152.2:c.485C>A, XM_011524152.1:c.485C>A, XM_017023997.2:c.602C>A, XM_017023997.1:c.485C>A, XM_017024001.2:c.125C>A, XM_017024001.1:c.125C>A, XM_017024000.2:c.125C>A, XM_017024000.1:c.125C>A, NM_001163075.2:c.473C>A, NM_001163075.1:c.473C>A, XM_017023998.2:c.473C>A, XM_017023998.1:c.473C>A, XM_017023999.2:c.173C>A, XM_017023999.1:c.173C>A, XM_047435058.1:c.602C>A, XM_047435061.1:c.564C>A, XM_047435059.1:c.408C>A, XM_047435062.1:c.110C>A, XM_047435060.1:c.473C>A, XP_011522454.2:p.Thr201Asn, XP_016879486.2:p.Thr201Asn, XP_016879490.1:p.Thr42Asn, XP_016879489.1:p.Thr42Asn, NP_001156547.1:p.Thr158Asn, XP_016879487.1:p.Thr158Asn, XP_016879488.1:p.Thr58Asn, XP_047291014.1:p.Thr201Asn, XP_047291017.1:p.His188Gln, XP_047291015.1:p.His136Gln, XP_047291018.1:p.Thr37Asn, XP_047291016.1:p.Thr158Asn

Select item 144137483920.

rs1441374839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:78166035 (GRCh38)
17:76162116 (GRCh37)
Canonical SPDI:: NC_000017.11:78166034:G:C
Gene:: C17orf99 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.78166035G>C, NC_000017.10:g.76162116G>C, XM_011524152.3:c.916G>C, XM_011524152.2:c.799G>C, XM_011524152.1:c.799G>C, XM_017024001.2:c.439G>C, XM_017024001.1:c.439G>C, XM_017024000.2:c.439G>C, XM_017024000.1:c.439G>C, NM_001163075.2:c.787G>C, NM_001163075.1:c.787G>C, XM_017023999.2:c.487G>C, XM_017023999.1:c.487G>C, XM_047435058.1:c.*140G>C, XM_047435061.1:c.*140G>C, XM_047435059.1:c.*60G>C, XM_047435062.1:c.424G>C, XM_047435060.1:c.*140G>C, XP_011522454.2:p.Ala306Pro, XP_016879490.1:p.Ala147Pro, XP_016879489.1:p.Ala147Pro, NP_001156547.1:p.Ala263Pro, XP_016879488.1:p.Ala163Pro, XP_047291018.1:p.Ala142Pro

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Result Filters

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Items: 1 to 20 of 162

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