SNP Links for Protein (Select 122937325) - SNP

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Links from Protein

Items: 1 to 20 of 170

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Select item 14843346651.

rs1484334665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38835330 (GRCh38)
17:36991583 (GRCh37)
Canonical SPDI:: NC_000017.11:38835329:C:T
Gene:: C17orf98 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38835330C>T, NC_000017.10:g.36991583C>T, NT_187614.1:g.2870649C>T, NM_001080465.3:c.324G>A, NM_001080465.2:c.324G>A

Select item 14833015472.

rs1483301547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38841246 (GRCh38)
17:36997499 (GRCh37)
Canonical SPDI:: NC_000017.11:38841245:G:A
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38841246G>A, NC_000017.10:g.36997499G>A, NT_187614.1:g.2876565G>A, NM_001080465.3:c.144C>T, NM_001080465.2:c.144C>T

Select item 14738178823.

rs1473817882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:38835269 (GRCh38)
17:36991522 (GRCh37)
Canonical SPDI:: NC_000017.11:38835268:A:C
Gene:: C17orf98 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38835269A>C, NC_000017.10:g.36991522A>C, NT_187614.1:g.2870588A>C, NM_001080465.3:c.385T>G, NM_001080465.2:c.385T>G, NP_001073934.1:p.Phe129Val

Select item 14728259934.

rs1472825993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38841185 (GRCh38)
17:36997438 (GRCh37)
Canonical SPDI:: NC_000017.11:38841184:G:C
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000052/13 (GnomAD_exomes)
C=0.000121/17 (GnomAD)
C=0.000121/32 (TOPMED)
HGVS:: NC_000017.11:g.38841185G>C, NC_000017.10:g.36997438G>C, NT_187614.1:g.2876504G>C, NM_001080465.3:c.205C>G, NM_001080465.2:c.205C>G, NP_001073934.1:p.Gln69Glu

Select item 14706256105.

rs1470625610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38841307 (GRCh38)
17:36997560 (GRCh37)
Canonical SPDI:: NC_000017.11:38841306:G:A
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38841307G>A, NC_000017.10:g.36997560G>A, NT_187614.1:g.2876626G>A, NM_001080465.3:c.83C>T, NM_001080465.2:c.83C>T, NP_001073934.1:p.Ala28Val

Select item 14705523336.

rs1470552333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38837230 (GRCh38)
17:36993483 (GRCh37)
Canonical SPDI:: NC_000017.11:38837229:C:T
Gene:: C17orf98 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38837230C>T, NC_000017.10:g.36993483C>T, NT_187614.1:g.2872549C>T, NM_001080465.3:c.218G>A, NM_001080465.2:c.218G>A, NP_001073934.1:p.Gly73Asp

Select item 14603485107.

rs1460348510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:38837172 (GRCh38)
17:36993425 (GRCh37)
Canonical SPDI:: NC_000017.11:38837171:T:A
Gene:: C17orf98 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38837172T>A, NC_000017.10:g.36993425T>A, NT_187614.1:g.2872491T>A, NM_001080465.3:c.276A>T, NM_001080465.2:c.276A>T, NP_001073934.1:p.Arg92Ser

Select item 14512287158.

rs1451228715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38841371 (GRCh38)
17:36997624 (GRCh37)
Canonical SPDI:: NC_000017.11:38841370:A:G
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.38841371A>G, NC_000017.10:g.36997624A>G, NT_187614.1:g.2876690A>G, NM_001080465.3:c.19T>C, NM_001080465.2:c.19T>C, NP_001073934.1:p.Cys7Arg

Select item 14278075039.

rs1427807503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38841324 (GRCh38)
17:36997577 (GRCh37)
Canonical SPDI:: NC_000017.11:38841323:C:T
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38841324C>T, NC_000017.10:g.36997577C>T, NT_187614.1:g.2876643C>T, NM_001080465.3:c.66G>A, NM_001080465.2:c.66G>A

Select item 142669236010.

rs1426692360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38837235 (GRCh38)
17:36993488 (GRCh37)
Canonical SPDI:: NC_000017.11:38837234:A:G
Gene:: C17orf98 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38837235A>G, NC_000017.10:g.36993488A>G, NT_187614.1:g.2872554A>G, NM_001080465.3:c.213T>C, NM_001080465.2:c.213T>C

Select item 142499946011.

rs1424999460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38841315 (GRCh38)
17:36997568 (GRCh37)
Canonical SPDI:: NC_000017.11:38841314:A:G
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38841315A>G, NC_000017.10:g.36997568A>G, NT_187614.1:g.2876634A>G, NM_001080465.3:c.75T>C, NM_001080465.2:c.75T>C

Select item 141415441612.

rs1414154416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38841238 (GRCh38)
17:36997491 (GRCh37)
Canonical SPDI:: NC_000017.11:38841237:G:A
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38841238G>A, NC_000017.10:g.36997491G>A, NT_187614.1:g.2876557G>A, NM_001080465.3:c.152C>T, NM_001080465.2:c.152C>T, NP_001073934.1:p.Ala51Val

Select item 140988146313.

rs1409881463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38841266 (GRCh38)
17:36997519 (GRCh37)
Canonical SPDI:: NC_000017.11:38841265:G:A
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38841266G>A, NC_000017.10:g.36997519G>A, NT_187614.1:g.2876585G>A, NM_001080465.3:c.124C>T, NM_001080465.2:c.124C>T, NP_001073934.1:p.Pro42Ser

Select item 140850754114.

rs1408507541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38841294 (GRCh38)
17:36997547 (GRCh37)
Canonical SPDI:: NC_000017.11:38841293:A:G
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.38841294A>G, NC_000017.10:g.36997547A>G, NT_187614.1:g.2876613A>G, NM_001080465.3:c.96T>C, NM_001080465.2:c.96T>C

Select item 139520500215.

rs1395205002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38837186 (GRCh38)
17:36993439 (GRCh37)
Canonical SPDI:: NC_000017.11:38837185:C:T
Gene:: C17orf98 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38837186C>T, NC_000017.10:g.36993439C>T, NT_187614.1:g.2872505C>T, NM_001080465.3:c.262G>A, NM_001080465.2:c.262G>A, NP_001073934.1:p.Gly88Arg

Select item 139084144616.

rs1390841446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38841317 (GRCh38)
17:36997570 (GRCh37)
Canonical SPDI:: NC_000017.11:38841316:C:T
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38841317C>T, NC_000017.10:g.36997570C>T, NT_187614.1:g.2876636C>T, NM_001080465.3:c.73G>A, NM_001080465.2:c.73G>A, NP_001073934.1:p.Ala25Thr

Select item 138788624417.

rs1387886244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38835334 (GRCh38)
17:36991587 (GRCh37)
Canonical SPDI:: NC_000017.11:38835333:T:C
Gene:: C17orf98 (Varview)
Functional Consequence:: 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.38835334T>C, NC_000017.10:g.36991587T>C, NT_187614.1:g.2870653T>C, NM_001080465.3:c.320A>G, NM_001080465.2:c.320A>G, NP_001073934.1:p.Gln107Arg

Select item 138297764018.

rs1382977640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38837164 (GRCh38)
17:36993417 (GRCh37)
Canonical SPDI:: NC_000017.11:38837163:T:C
Gene:: C17orf98 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38837164T>C, NC_000017.10:g.36993417T>C, NT_187614.1:g.2872483T>C, NM_001080465.3:c.284A>G, NM_001080465.2:c.284A>G, NP_001073934.1:p.Asn95Ser

Select item 138026227319.

rs1380262273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:38841191 (GRCh38)
17:36997444 (GRCh37)
Canonical SPDI:: NC_000017.11:38841190:T:A
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.38841191T>A, NC_000017.10:g.36997444T>A, NT_187614.1:g.2876510T>A, NM_001080465.3:c.199A>T, NM_001080465.2:c.199A>T, NP_001073934.1:p.Thr67Ser

Select item 137178855320.

rs1371788553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38841262 (GRCh38)
17:36997515 (GRCh37)
Canonical SPDI:: NC_000017.11:38841261:T:C
Gene:: C17orf98 (Varview), LOC124903994 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38841262T>C, NC_000017.10:g.36997515T>C, NT_187614.1:g.2876581T>C, NM_001080465.3:c.128A>G, NM_001080465.2:c.128A>G, NP_001073934.1:p.Tyr43Cys