SNP Links for Nucleotide (Select 571330787) - SNP - NCBI

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Links from Nucleotide

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Select item 14899654531.

rs1489965453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:127804364 (GRCh38)
9:130566643 (GRCh37)
Canonical SPDI:: NC_000009.12:127804363:A:C
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127804364A>C, NC_000009.11:g.130566643A>C, NG_023245.1:g.6490A>C, NM_004957.6:c.218A>C, NM_004957.5:c.218A>C, NM_004957.4:c.218A>C, NM_001018078.2:c.68A>C, NM_001018078.1:c.68A>C, NR_110170.1:n.285A>C, NM_001288803.1:c.218A>C, XM_005251864.5:c.218A>C, XM_005251864.4:c.218A>C, XM_005251864.3:c.218A>C, XM_005251864.2:c.218A>C, XM_005251864.1:c.218A>C, XM_047423126.1:c.68A>C, XM_047423127.1:c.68A>C, NP_004948.4:p.Gln73Pro, NP_001018088.1:p.Gln23Pro, NP_001275732.1:p.Gln73Pro, XP_005251921.1:p.Gln73Pro, XP_047279082.1:p.Gln23Pro, XP_047279083.1:p.Gln23Pro

Select item 14899328942.

rs1489932894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:127804315 (GRCh38)
9:130566594 (GRCh37)
Canonical SPDI:: NC_000009.12:127804314:A:C,NC_000009.12:127804314:A:T
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.127804315A>C, NC_000009.12:g.127804315A>T, NC_000009.11:g.130566594A>C, NC_000009.11:g.130566594A>T, NG_023245.1:g.6441A>C, NG_023245.1:g.6441A>T, NM_004957.6:c.169A>C, NM_004957.6:c.169A>T, NM_004957.5:c.169A>C, NM_004957.5:c.169A>T, NM_004957.4:c.169A>C, NM_004957.4:c.169A>T, NM_001018078.2:c.19A>C, NM_001018078.2:c.19A>T, NM_001018078.1:c.19A>C, NM_001018078.1:c.19A>T, NR_110170.1:n.236A>C, NR_110170.1:n.236A>T, NM_001288803.1:c.169A>C, NM_001288803.1:c.169A>T, XM_005251864.5:c.169A>C, XM_005251864.5:c.169A>T, XM_005251864.4:c.169A>C, XM_005251864.4:c.169A>T, XM_005251864.3:c.169A>C, XM_005251864.3:c.169A>T, XM_005251864.2:c.169A>C, XM_005251864.2:c.169A>T, XM_005251864.1:c.169A>C, XM_005251864.1:c.169A>T, XM_047423126.1:c.19A>C, XM_047423126.1:c.19A>T, XM_047423127.1:c.19A>C, XM_047423127.1:c.19A>T, NP_004948.4:p.Thr57Pro, NP_004948.4:p.Thr57Ser, NP_001018088.1:p.Thr7Pro, NP_001018088.1:p.Thr7Ser, NP_001275732.1:p.Thr57Pro, NP_001275732.1:p.Thr57Ser, XP_005251921.1:p.Thr57Pro, XP_005251921.1:p.Thr57Ser, XP_047279082.1:p.Thr7Pro, XP_047279082.1:p.Thr7Ser, XP_047279083.1:p.Thr7Pro, XP_047279083.1:p.Thr7Ser

Select item 14878909123.

rs1487890912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127808885 (GRCh38)
9:130571164 (GRCh37)
Canonical SPDI:: NC_000009.12:127808884:G:A
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000009.12:g.127808885G>A, NC_000009.11:g.130571164G>A, NG_023245.1:g.11011G>A, NM_004957.6:c.1056G>A, NM_004957.5:c.1056G>A, NM_004957.4:c.1056G>A, NM_001018078.2:c.906G>A, NM_001018078.1:c.906G>A, NR_110170.1:n.1104G>A, NM_001288803.1:c.978G>A, XM_005251864.5:c.1056G>A, XM_005251864.4:c.1056G>A, XM_005251864.3:c.1056G>A, XM_005251864.2:c.1056G>A, XM_005251864.1:c.1056G>A, XM_047423126.1:c.906G>A, XM_047423127.1:c.906G>A

Select item 14872042414.

rs1487204241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:127808853 (GRCh38)
9:130571132 (GRCh37)
Canonical SPDI:: NC_000009.12:127808852:G:T
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127808853G>T, NC_000009.11:g.130571132G>T, NG_023245.1:g.10979G>T, NM_004957.6:c.1024G>T, NM_004957.5:c.1024G>T, NM_004957.4:c.1024G>T, NM_001018078.2:c.874G>T, NM_001018078.1:c.874G>T, NR_110170.1:n.1072G>T, NM_001288803.1:c.946G>T, XM_005251864.5:c.1024G>T, XM_005251864.4:c.1024G>T, XM_005251864.3:c.1024G>T, XM_005251864.2:c.1024G>T, XM_005251864.1:c.1024G>T, XM_047423126.1:c.874G>T, XM_047423127.1:c.874G>T, NP_004948.4:p.Ala342Ser, NP_001018088.1:p.Ala292Ser, NP_001275732.1:p.Ala316Ser, XP_005251921.1:p.Ala342Ser, XP_047279082.1:p.Ala292Ser, XP_047279083.1:p.Ala292Ser

Select item 14866176725.

rs1486617672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:127810087 (GRCh38)
9:130572366 (GRCh37)
Canonical SPDI:: NC_000009.12:127810086:C:G,NC_000009.12:127810086:C:T
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.00092/26 (TOMMO)
G=0.001092/2 (Korea1K)
HGVS:: NC_000009.12:g.127810087C>G, NC_000009.12:g.127810087C>T, NC_000009.11:g.130572366C>G, NC_000009.11:g.130572366C>T, NG_023245.1:g.12213C>G, NG_023245.1:g.12213C>T, NM_004957.6:c.1268C>G, NM_004957.6:c.1268C>T, NM_004957.5:c.1268C>G, NM_004957.5:c.1268C>T, NM_004957.4:c.1268C>G, NM_004957.4:c.1268C>T, NM_001018078.2:c.1118C>G, NM_001018078.2:c.1118C>T, NM_001018078.1:c.1118C>G, NM_001018078.1:c.1118C>T, NR_110170.1:n.1316C>G, NR_110170.1:n.1316C>T, NM_001288803.1:c.1190C>G, NM_001288803.1:c.1190C>T, XM_005251864.5:c.1268C>G, XM_005251864.5:c.1268C>T, XM_005251864.4:c.1268C>G, XM_005251864.4:c.1268C>T, XM_005251864.3:c.1268C>G, XM_005251864.3:c.1268C>T, XM_005251864.2:c.1268C>G, XM_005251864.2:c.1268C>T, XM_005251864.1:c.1268C>G, XM_005251864.1:c.1268C>T, XM_047423126.1:c.1118C>G, XM_047423126.1:c.1118C>T, XM_047423127.1:c.1118C>G, XM_047423127.1:c.1118C>T, NP_004948.4:p.Ala423Gly, NP_004948.4:p.Ala423Val, NP_001018088.1:p.Ala373Gly, NP_001018088.1:p.Ala373Val, NP_001275732.1:p.Ala397Gly, NP_001275732.1:p.Ala397Val, XP_005251921.1:p.Ala423Gly, XP_005251921.1:p.Ala423Val, XP_047279082.1:p.Ala373Gly, XP_047279082.1:p.Ala373Val, XP_047279083.1:p.Ala373Gly, XP_047279083.1:p.Ala373Val

Select item 14841829386.

rs1484182938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:127809810 (GRCh38)
9:130572089 (GRCh37)
Canonical SPDI:: NC_000009.12:127809809:T:G
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.127809810T>G, NC_000009.11:g.130572089T>G, NG_023245.1:g.11936T>G, NM_004957.6:c.1187T>G, NM_004957.5:c.1187T>G, NM_004957.4:c.1187T>G, NM_001018078.2:c.1037T>G, NM_001018078.1:c.1037T>G, NR_110170.1:n.1235T>G, NM_001288803.1:c.1109T>G, XM_005251864.5:c.1187T>G, XM_005251864.4:c.1187T>G, XM_005251864.3:c.1187T>G, XM_005251864.2:c.1187T>G, XM_005251864.1:c.1187T>G, XM_047423126.1:c.1037T>G, XM_047423127.1:c.1037T>G, NP_004948.4:p.Leu396Arg, NP_001018088.1:p.Leu346Arg, NP_001275732.1:p.Leu370Arg, XP_005251921.1:p.Leu396Arg, XP_047279082.1:p.Leu346Arg, XP_047279083.1:p.Leu346Arg

Select item 14839216737.

rs1483921673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127813598 (GRCh38)
9:130575877 (GRCh37)
Canonical SPDI:: NC_000009.12:127813597:C:T
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127813598C>T, NC_000009.11:g.130575877C>T, NG_009551.1:g.46171G>A, NG_023245.1:g.15724C>T, NM_004957.6:c.1758C>T, NM_004957.5:c.1758C>T, NM_004957.4:c.1758C>T, NM_001018078.2:c.1608C>T, NM_001018078.1:c.1608C>T, NR_110170.1:n.1806C>T, NM_001288803.1:c.1680C>T, XM_047423126.1:c.1608C>T

Select item 14805113748.

rs1480511374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:127813319 (GRCh38)
9:130575598 (GRCh37)
Canonical SPDI:: NC_000009.12:127813318:G:C
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127813319G>C, NC_000009.11:g.130575598G>C, NG_009551.1:g.46450C>G, NG_023245.1:g.15445G>C, NM_004957.6:c.1479G>C, NM_004957.5:c.1479G>C, NM_004957.4:c.1479G>C, NM_001018078.2:c.1329G>C, NM_001018078.1:c.1329G>C, NR_110170.1:n.1527G>C, NM_001288803.1:c.1401G>C, XM_005251864.5:c.1479G>C, XM_005251864.4:c.1479G>C, XM_005251864.3:c.1479G>C, XM_005251864.2:c.1479G>C, XM_005251864.1:c.1479G>C, XM_047423126.1:c.1329G>C, XM_047423127.1:c.1329G>C, NP_004948.4:p.Glu493Asp, NP_001018088.1:p.Glu443Asp, NP_001275732.1:p.Glu467Asp, XP_005251921.1:p.Glu493Asp, XP_047279082.1:p.Glu443Asp, XP_047279083.1:p.Glu443Asp

Select item 14799938429.

rs1479993842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127802916 (GRCh38)
9:130565195 (GRCh37)
Canonical SPDI:: NC_000009.12:127802915:G:A
Gene:: FPGS (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.127802916G>A, NC_000009.11:g.130565195G>A, NG_023245.1:g.5042G>A, NM_004957.6:c.-9G>A, NM_004957.5:c.-9G>A, NM_004957.4:c.-9G>A, NR_110170.1:n.59G>A, NM_001288803.1:c.-9G>A, XM_005251864.5:c.-9G>A, XM_005251864.4:c.-9G>A, XM_005251864.3:c.-9G>A, XM_005251864.2:c.-9G>A, XM_005251864.1:c.-9G>A

Select item 147977140810.

rs1479771408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127802888 (GRCh38)
9:130565167 (GRCh37)
Canonical SPDI:: NC_000009.12:127802887:C:T
Gene:: FPGS (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000058/8 (GnomAD)
T=0.000087/23 (TOPMED)
T=0.000223/1 (Estonian)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.127802888C>T, NC_000009.11:g.130565167C>T, NG_023245.1:g.5014C>T, NM_004957.6:c.-37C>T, NM_004957.5:c.-37C>T, NM_004957.4:c.-37C>T, NR_110170.1:n.31C>T, NM_001288803.1:c.-37C>T, XM_005251864.5:c.-37C>T, XM_005251864.4:c.-37C>T, XM_005251864.2:c.-37C>T

Select item 147948556511.

rs1479485565 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 9:127810037 (GRCh38)
9:130572317 (GRCh37)
Canonical SPDI:: NC_000009.12:127810037:GAGG:GAGGAGG
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAGG=0./0 (ALFA)
HGVS:: NC_000009.12:g.127810039_127810041dup, NC_000009.11:g.130572318_130572320dup, NG_023245.1:g.12165_12167dup, NM_004957.6:c.1220_1222dup, NM_004957.5:c.1220_1222dup, NM_004957.4:c.1220_1222dup, NM_001018078.2:c.1070_1072dup, NM_001018078.1:c.1070_1072dup, NR_110170.1:n.1268_1270dup, NM_001288803.1:c.1142_1144dup, XM_005251864.5:c.1220_1222dup, XM_005251864.4:c.1220_1222dup, XM_005251864.3:c.1220_1222dup, XM_005251864.2:c.1220_1222dup, XM_005251864.1:c.1220_1222dup, XM_047423126.1:c.1070_1072dup, XM_047423127.1:c.1070_1072dup, NP_004948.4:p.Glu407dup, NP_001018088.1:p.Glu357dup, NP_001275732.1:p.Glu381dup, XP_005251921.1:p.Glu407dup, XP_047279082.1:p.Glu357dup, XP_047279083.1:p.Glu357dup

Select item 147830856212.

rs1478308562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:127802969 (GRCh38)
9:130565248 (GRCh37)
Canonical SPDI:: NC_000009.12:127802968:A:G,NC_000009.12:127802968:A:T
Gene:: FPGS (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
T=0.000347/1 (KOREAN)
HGVS:: NC_000009.12:g.127802969A>G, NC_000009.12:g.127802969A>T, NC_000009.11:g.130565248A>G, NC_000009.11:g.130565248A>T, NG_023245.1:g.5095A>G, NG_023245.1:g.5095A>T, NM_004957.6:c.45A>G, NM_004957.6:c.45A>T, NM_004957.5:c.45A>G, NM_004957.5:c.45A>T, NM_004957.4:c.45A>G, NM_004957.4:c.45A>T, NR_110170.1:n.112A>G, NR_110170.1:n.112A>T, NM_001288803.1:c.45A>G, NM_001288803.1:c.45A>T, XM_005251864.5:c.45A>G, XM_005251864.5:c.45A>T, XM_005251864.4:c.45A>G, XM_005251864.4:c.45A>T, XM_005251864.3:c.45A>G, XM_005251864.3:c.45A>T, XM_005251864.2:c.45A>G, XM_005251864.2:c.45A>T, XM_005251864.1:c.45A>G, XM_005251864.1:c.45A>T

Select item 147783491513.

rs1477834915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127813396 (GRCh38)
9:130575675 (GRCh37)
Canonical SPDI:: NC_000009.12:127813395:G:A
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.127813396G>A, NC_000009.11:g.130575675G>A, NG_009551.1:g.46373C>T, NG_023245.1:g.15522G>A, NM_004957.6:c.1556G>A, NM_004957.5:c.1556G>A, NM_004957.4:c.1556G>A, NM_001018078.2:c.1406G>A, NM_001018078.1:c.1406G>A, NR_110170.1:n.1604G>A, NM_001288803.1:c.1478G>A, XM_047423126.1:c.1406G>A, NP_004948.4:p.Cys519Tyr, NP_001018088.1:p.Cys469Tyr, NP_001275732.1:p.Cys493Tyr, XP_047279082.1:p.Cys469Tyr

Select item 147642425414.

rs1476424254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:127813785 (GRCh38)
9:130576064 (GRCh37)
Canonical SPDI:: NC_000009.12:127813784:T:G
Gene:: FPGS (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.127813785T>G, NC_000009.11:g.130576064T>G, NG_009551.1:g.45984A>C, NG_023245.1:g.15911T>G, NM_004957.6:c.*181T>G, NM_004957.5:c.*181T>G, NM_004957.4:c.*181T>G, NM_001018078.2:c.*181T>G, NM_001018078.1:c.*181T>G, NR_110170.1:n.1993T>G, NM_001288803.1:c.*181T>G, XM_047423126.1:c.*181T>G

Select item 147609337315.

rs1476093373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127802901 (GRCh38)
9:130565180 (GRCh37)
Canonical SPDI:: NC_000009.12:127802900:A:G
Gene:: FPGS (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000009.12:g.127802901A>G, NC_000009.11:g.130565180A>G, NG_023245.1:g.5027A>G, NM_004957.6:c.-24A>G, NM_004957.5:c.-24A>G, NM_004957.4:c.-24A>G, NR_110170.1:n.44A>G, NM_001288803.1:c.-24A>G, XM_005251864.5:c.-24A>G, XM_005251864.4:c.-24A>G, XM_005251864.3:c.-24A>G, XM_005251864.2:c.-24A>G, XM_005251864.1:c.-24A>G

Select item 147606610016.

rs1476066100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127813899 (GRCh38)
9:130576178 (GRCh37)
Canonical SPDI:: NC_000009.12:127813898:C:T
Gene:: FPGS (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127813899C>T, NC_000009.11:g.130576178C>T, NG_009551.1:g.45870G>A, NG_023245.1:g.16025C>T, NM_004957.6:c.*295C>T, NM_004957.5:c.*295C>T, NM_004957.4:c.*295C>T, NM_001018078.2:c.*295C>T, NM_001018078.1:c.*295C>T, NR_110170.1:n.2107C>T, NM_001288803.1:c.*295C>T, XM_047423126.1:c.*295C>T

Select item 147566688117.

rs1475666881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127808620 (GRCh38)
9:130570899 (GRCh37)
Canonical SPDI:: NC_000009.12:127808619:G:A
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127808620G>A, NC_000009.11:g.130570899G>A, NG_023245.1:g.10746G>A, NM_004957.6:c.885G>A, NM_004957.5:c.885G>A, NM_004957.4:c.885G>A, NM_001018078.2:c.735G>A, NM_001018078.1:c.735G>A, NR_110170.1:n.933G>A, NM_001288803.1:c.807G>A, XM_005251864.5:c.885G>A, XM_005251864.4:c.885G>A, XM_005251864.3:c.885G>A, XM_005251864.2:c.885G>A, XM_005251864.1:c.885G>A, XM_047423126.1:c.735G>A, XM_047423127.1:c.735G>A

Select item 147535265318.

rs1475352653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:127804357 (GRCh38)
9:130566636 (GRCh37)
Canonical SPDI:: NC_000009.12:127804356:G:C
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.127804357G>C, NC_000009.11:g.130566636G>C, NG_023245.1:g.6483G>C, NM_004957.6:c.211G>C, NM_004957.5:c.211G>C, NM_004957.4:c.211G>C, NM_001018078.2:c.61G>C, NM_001018078.1:c.61G>C, NR_110170.1:n.278G>C, NM_001288803.1:c.211G>C, XM_005251864.5:c.211G>C, XM_005251864.4:c.211G>C, XM_005251864.3:c.211G>C, XM_005251864.2:c.211G>C, XM_005251864.1:c.211G>C, XM_047423126.1:c.61G>C, XM_047423127.1:c.61G>C, NP_004948.4:p.Asp71His, NP_001018088.1:p.Asp21His, NP_001275732.1:p.Asp71His, XP_005251921.1:p.Asp71His, XP_047279082.1:p.Asp21His, XP_047279083.1:p.Asp21His

Select item 147443436419.

rs1474434364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127813497 (GRCh38)
9:130575776 (GRCh37)
Canonical SPDI:: NC_000009.12:127813496:G:A
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_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_000009.12:g.127813497G>A, NC_000009.11:g.130575776G>A, NG_009551.1:g.46272C>T, NG_023245.1:g.15623G>A, NM_004957.6:c.1657G>A, NM_004957.5:c.1657G>A, NM_004957.4:c.1657G>A, NM_001018078.2:c.1507G>A, NM_001018078.1:c.1507G>A, NR_110170.1:n.1705G>A, NM_001288803.1:c.1579G>A, XM_047423126.1:c.1507G>A, NP_004948.4:p.Gly553Arg, NP_001018088.1:p.Gly503Arg, NP_001275732.1:p.Gly527Arg, XP_047279082.1:p.Gly503Arg

Select item 147334423620.

rs1473344236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:127807049 (GRCh38)
9:130569328 (GRCh37)
Canonical SPDI:: NC_000009.12:127807048:T:C
Gene:: FPGS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127807049T>C, NC_000009.11:g.130569328T>C, NG_023245.1:g.9175T>C, NM_004957.6:c.463T>C, NM_004957.5:c.463T>C, NM_004957.4:c.463T>C, NM_001018078.2:c.313T>C, NM_001018078.1:c.313T>C, NR_110170.1:n.511T>C, NM_001288803.1:c.463T>C, XM_005251864.5:c.463T>C, XM_005251864.4:c.463T>C, XM_005251864.3:c.463T>C, XM_005251864.2:c.463T>C, XM_005251864.1:c.463T>C, XM_047423126.1:c.313T>C, XM_047423127.1:c.313T>C, NP_004948.4:p.Tyr155His, NP_001018088.1:p.Tyr105His, NP_001275732.1:p.Tyr155His, XP_005251921.1:p.Tyr155His, XP_047279082.1:p.Tyr105His, XP_047279083.1:p.Tyr105His

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