SNP Links for Nucleotide (Select 226528418) - SNP - NCBI

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Links from Nucleotide

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Select item 14895324701.

rs1489532470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:140381759 (GRCh38)
4:141302913 (GRCh37)
Canonical SPDI:: NC_000004.12:140381758:A:C
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140381759A>C, NC_000004.11:g.141302913A>C, NM_032547.3:c.*655A>C, NM_032547.2:c.*655A>C, NM_001153484.2:c.*655A>C, NM_001153484.1:c.*655A>C, NM_001153552.2:c.*655A>C, NM_001153552.1:c.*655A>C, XM_047416067.1:c.*655A>C, XM_047416068.1:c.*655A>C, NM_001153585.1:c.*655A>C, NM_001153663.1:c.*655A>C, NM_001153690.1:c.*655A>C, NM_001153446.1:c.*655A>C, NM_001153635.1:c.*655A>C

Select item 14891147812.

rs1489114781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:140343599 (GRCh38)
4:141264753 (GRCh37)
Canonical SPDI:: NC_000004.12:140343598:C:G,NC_000004.12:140343598:C:T
Gene:: SCOC (Varview), SCOC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140343599C>G, NC_000004.12:g.140343599C>T, NC_000004.11:g.141264753C>G, NC_000004.11:g.141264753C>T, XM_047416067.1:c.-220C>G, XM_047416067.1:c.-220C>T, XM_047416068.1:c.-220C>G, XM_047416068.1:c.-220C>T, NM_001153585.1:c.-40C>G, NM_001153585.1:c.-40C>T, NM_001153690.1:c.-40C>G, NM_001153690.1:c.-40C>T

Select item 14836620363.

rs1483662036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140382083 (GRCh38)
4:141303237 (GRCh37)
Canonical SPDI:: NC_000004.12:140382082:A:T
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140382083A>T, NC_000004.11:g.141303237A>T, NM_032547.3:c.*979A>T, NM_032547.2:c.*979A>T, NM_001153484.2:c.*979A>T, NM_001153484.1:c.*979A>T, NM_001153552.2:c.*979A>T, NM_001153552.1:c.*979A>T, XM_047416067.1:c.*979A>T, XM_047416068.1:c.*979A>T, NM_001153585.1:c.*979A>T, NM_001153663.1:c.*979A>T, NM_001153690.1:c.*979A>T, NM_001153446.1:c.*979A>T, NM_001153635.1:c.*979A>T

Select item 14758695864.

rs1475869586 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:140381549 (GRCh38)
4:141302704 (GRCh37)
Canonical SPDI:: NC_000004.12:140381549:AAAAAAA:AAAAAAAA
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.140381556dup, NC_000004.11:g.141302710dup, NM_032547.3:c.*452dup, NM_032547.2:c.*452dup, NM_001153484.2:c.*452dup, NM_001153484.1:c.*452dup, NM_001153552.2:c.*452dup, NM_001153552.1:c.*452dup, XM_047416067.1:c.*452dup, XM_047416068.1:c.*452dup, NM_001153585.1:c.*452dup, NM_001153663.1:c.*452dup, NM_001153690.1:c.*452dup, NM_001153446.1:c.*452dup, NM_001153635.1:c.*452dup

Select item 14749550335.

rs1474955033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:140343660 (GRCh38)
4:141264814 (GRCh37)
Canonical SPDI:: NC_000004.12:140343659:G:A,NC_000004.12:140343659:G:C
Gene:: SCOC (Varview), SCOC-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140343660G>A, NC_000004.12:g.140343660G>C, NC_000004.11:g.141264814G>A, NC_000004.11:g.141264814G>C, NM_032547.3:c.22G>A, NM_032547.3:c.22G>C, NM_032547.2:c.22G>A, NM_032547.2:c.22G>C, XM_047416067.1:c.-159G>A, XM_047416067.1:c.-159G>C, XM_047416068.1:c.-159G>A, XM_047416068.1:c.-159G>C, NM_001153585.1:c.22G>A, NM_001153585.1:c.22G>C, NM_001153690.1:c.22G>A, NM_001153690.1:c.22G>C, NM_001153446.1:c.22G>A, NM_001153446.1:c.22G>C, NM_001153635.1:c.22G>A, NM_001153635.1:c.22G>C, NP_115936.2:p.Glu8Lys, NP_115936.2:p.Glu8Gln, NP_001147057.1:p.Glu8Lys, NP_001147057.1:p.Glu8Gln, NP_001147162.1:p.Glu8Lys, NP_001147162.1:p.Glu8Gln, NP_001146918.1:p.Glu8Lys, NP_001146918.1:p.Glu8Gln, NP_001147107.1:p.Glu8Lys, NP_001147107.1:p.Glu8Gln

Select item 14734954106.

rs1473495410 [Homo sapiens]

Variant type:: DEL
Alleles:: GAAAG>- [Show Flanks]
Chromosome:: 4:140381097 (GRCh38)
4:141302251 (GRCh37)
Canonical SPDI:: NC_000004.12:140381096:GAAAG:
Gene:: SCOC (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140381097_140381101del, NC_000004.11:g.141302251_141302255del, NM_032547.3:c.362_366del, NM_032547.2:c.362_366del, NM_001153484.2:c.242_246del, NM_001153484.1:c.473_477del, NM_001153552.2:c.158_162del, NM_001153552.1:c.389_393del, XM_047416067.1:c.242_246del, XM_047416068.1:c.158_162del, NM_001153585.1:c.362_366del, NM_001153663.1:c.470_474del, NM_001153690.1:c.278_282del, NM_001153446.1:c.362_366del, NM_001153635.1:c.359_363del, NP_115936.2:p.Arg121fs, NP_001146956.2:p.Arg81fs, NP_001147024.2:p.Arg53fs, XP_047272023.1:p.Arg81fs, XP_047272024.1:p.Arg53fs, NP_001147057.1:p.Arg121fs, NP_001147135.1:p.Arg157fs, NP_001147162.1:p.Arg93fs, NP_001146918.1:p.Arg121fs, NP_001147107.1:p.Arg120fs

Select item 14732284337.

rs1473228433 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:140381738 (GRCh38)
4:141302892 (GRCh37)
Canonical SPDI:: NC_000004.12:140381737:AAAAA:AAAA
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140381742del, NC_000004.11:g.141302896del, NM_032547.3:c.*638del, NM_032547.2:c.*638del, NM_001153484.2:c.*638del, NM_001153484.1:c.*638del, NM_001153552.2:c.*638del, NM_001153552.1:c.*638del, XM_047416067.1:c.*638del, XM_047416068.1:c.*638del, NM_001153585.1:c.*638del, NM_001153663.1:c.*638del, NM_001153690.1:c.*638del, NM_001153446.1:c.*638del, NM_001153635.1:c.*638del

Select item 14731320278.

rs1473132027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:140381152 (GRCh38)
4:141302306 (GRCh37)
Canonical SPDI:: NC_000004.12:140381151:C:A,NC_000004.12:140381151:C:G
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140381152C>A, NC_000004.12:g.140381152C>G, NC_000004.11:g.141302306C>A, NC_000004.11:g.141302306C>G, NM_032547.3:c.*48C>A, NM_032547.3:c.*48C>G, NM_032547.2:c.*48C>A, NM_032547.2:c.*48C>G, NM_001153484.2:c.*48C>A, NM_001153484.2:c.*48C>G, NM_001153484.1:c.*48C>A, NM_001153484.1:c.*48C>G, NM_001153552.2:c.*48C>A, NM_001153552.2:c.*48C>G, NM_001153552.1:c.*48C>A, NM_001153552.1:c.*48C>G, XM_047416067.1:c.*48C>A, XM_047416067.1:c.*48C>G, XM_047416068.1:c.*48C>A, XM_047416068.1:c.*48C>G, NM_001153585.1:c.*48C>A, NM_001153585.1:c.*48C>G, NM_001153663.1:c.*48C>A, NM_001153663.1:c.*48C>G, NM_001153690.1:c.*48C>A, NM_001153690.1:c.*48C>G, NM_001153446.1:c.*48C>A, NM_001153446.1:c.*48C>G, NM_001153635.1:c.*48C>A, NM_001153635.1:c.*48C>G

Select item 14684313749.

rs1468431374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:140381555 (GRCh38)
4:141302709 (GRCh37)
Canonical SPDI:: NC_000004.12:140381554:A:C
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_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_000004.12:g.140381555A>C, NC_000004.11:g.141302709A>C, NM_032547.3:c.*451A>C, NM_032547.2:c.*451A>C, NM_001153484.2:c.*451A>C, NM_001153484.1:c.*451A>C, NM_001153552.2:c.*451A>C, NM_001153552.1:c.*451A>C, XM_047416067.1:c.*451A>C, XM_047416068.1:c.*451A>C, NM_001153585.1:c.*451A>C, NM_001153663.1:c.*451A>C, NM_001153690.1:c.*451A>C, NM_001153446.1:c.*451A>C, NM_001153635.1:c.*451A>C

Select item 146685726010.

rs1466857260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140381204 (GRCh38)
4:141302358 (GRCh37)
Canonical SPDI:: NC_000004.12:140381203:A:G
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140381204A>G, NC_000004.11:g.141302358A>G, NM_032547.3:c.*100A>G, NM_032547.2:c.*100A>G, NM_001153484.2:c.*100A>G, NM_001153484.1:c.*100A>G, NM_001153552.2:c.*100A>G, NM_001153552.1:c.*100A>G, XM_047416067.1:c.*100A>G, XM_047416068.1:c.*100A>G, NM_001153585.1:c.*100A>G, NM_001153663.1:c.*100A>G, NM_001153690.1:c.*100A>G, NM_001153446.1:c.*100A>G, NM_001153635.1:c.*100A>G

Select item 146678986911.

rs1466789869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140382332 (GRCh38)
4:141303486 (GRCh37)
Canonical SPDI:: NC_000004.12:140382331:A:G
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.140382332A>G, NC_000004.11:g.141303486A>G, NM_032547.3:c.*1228A>G, NM_032547.2:c.*1228A>G, NM_001153484.2:c.*1228A>G, NM_001153484.1:c.*1228A>G, NM_001153552.2:c.*1228A>G, NM_001153552.1:c.*1228A>G, XM_047416067.1:c.*1228A>G, XM_047416068.1:c.*1228A>G, NM_001153585.1:c.*1228A>G, NM_001153663.1:c.*1228A>G, NM_001153690.1:c.*1228A>G, NM_001153446.1:c.*1228A>G, NM_001153635.1:c.*1228A>G

Select item 146579285712.

rs1465792857 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:140381543 (GRCh38)
4:141302697 (GRCh37)
Canonical SPDI:: NC_000004.12:140381542:G:
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.140381543del, NC_000004.11:g.141302697del, NM_032547.3:c.*439del, NM_032547.2:c.*439del, NM_001153484.2:c.*439del, NM_001153484.1:c.*439del, NM_001153552.2:c.*439del, NM_001153552.1:c.*439del, XM_047416067.1:c.*439del, XM_047416068.1:c.*439del, NM_001153585.1:c.*439del, NM_001153663.1:c.*439del, NM_001153690.1:c.*439del, NM_001153446.1:c.*439del, NM_001153635.1:c.*439del

Select item 146496687213.

rs1464966872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140381407 (GRCh38)
4:141302561 (GRCh37)
Canonical SPDI:: NC_000004.12:140381406:A:G
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140381407A>G, NC_000004.11:g.141302561A>G, NM_032547.3:c.*303A>G, NM_032547.2:c.*303A>G, NM_001153484.2:c.*303A>G, NM_001153484.1:c.*303A>G, NM_001153552.2:c.*303A>G, NM_001153552.1:c.*303A>G, XM_047416067.1:c.*303A>G, XM_047416068.1:c.*303A>G, NM_001153585.1:c.*303A>G, NM_001153663.1:c.*303A>G, NM_001153690.1:c.*303A>G, NM_001153446.1:c.*303A>G, NM_001153635.1:c.*303A>G

Select item 146423774714.

rs1464237747 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:140382147 (GRCh38)
4:141303301 (GRCh37)
Canonical SPDI:: NC_000004.12:140382146:AAA:AA
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140382149del, NC_000004.11:g.141303303del, NM_032547.3:c.*1045del, NM_032547.2:c.*1045del, NM_001153484.2:c.*1045del, NM_001153484.1:c.*1045del, NM_001153552.2:c.*1045del, NM_001153552.1:c.*1045del, XM_047416067.1:c.*1045del, XM_047416068.1:c.*1045del, NM_001153585.1:c.*1045del, NM_001153663.1:c.*1045del, NM_001153690.1:c.*1045del, NM_001153446.1:c.*1045del, NM_001153635.1:c.*1045del

Select item 146092436615.

rs1460924366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:140382157 (GRCh38)
4:141303311 (GRCh37)
Canonical SPDI:: NC_000004.12:140382156:A:G,NC_000004.12:140382156:A:T
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140382157A>G, NC_000004.12:g.140382157A>T, NC_000004.11:g.141303311A>G, NC_000004.11:g.141303311A>T, NM_032547.3:c.*1053A>G, NM_032547.3:c.*1053A>T, NM_032547.2:c.*1053A>G, NM_032547.2:c.*1053A>T, NM_001153484.2:c.*1053A>G, NM_001153484.2:c.*1053A>T, NM_001153484.1:c.*1053A>G, NM_001153484.1:c.*1053A>T, NM_001153552.2:c.*1053A>G, NM_001153552.2:c.*1053A>T, NM_001153552.1:c.*1053A>G, NM_001153552.1:c.*1053A>T, XM_047416067.1:c.*1053A>G, XM_047416067.1:c.*1053A>T, XM_047416068.1:c.*1053A>G, XM_047416068.1:c.*1053A>T, NM_001153585.1:c.*1053A>G, NM_001153585.1:c.*1053A>T, NM_001153663.1:c.*1053A>G, NM_001153663.1:c.*1053A>T, NM_001153690.1:c.*1053A>G, NM_001153690.1:c.*1053A>T, NM_001153446.1:c.*1053A>G, NM_001153446.1:c.*1053A>T, NM_001153635.1:c.*1053A>G, NM_001153635.1:c.*1053A>T

Select item 146070235816.

rs1460702358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140382121 (GRCh38)
4:141303275 (GRCh37)
Canonical SPDI:: NC_000004.12:140382120:A:G
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.140382121A>G, NC_000004.11:g.141303275A>G, NM_032547.3:c.*1017A>G, NM_032547.2:c.*1017A>G, NM_001153484.2:c.*1017A>G, NM_001153484.1:c.*1017A>G, NM_001153552.2:c.*1017A>G, NM_001153552.1:c.*1017A>G, XM_047416067.1:c.*1017A>G, XM_047416068.1:c.*1017A>G, NM_001153585.1:c.*1017A>G, NM_001153663.1:c.*1017A>G, NM_001153690.1:c.*1017A>G, NM_001153446.1:c.*1017A>G, NM_001153635.1:c.*1017A>G

Select item 145880709117.

rs1458807091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140382173 (GRCh38)
4:141303327 (GRCh37)
Canonical SPDI:: NC_000004.12:140382172:T:C
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140382173T>C, NC_000004.11:g.141303327T>C, NM_032547.3:c.*1069T>C, NM_032547.2:c.*1069T>C, NM_001153484.2:c.*1069T>C, NM_001153484.1:c.*1069T>C, NM_001153552.2:c.*1069T>C, NM_001153552.1:c.*1069T>C, XM_047416067.1:c.*1069T>C, XM_047416068.1:c.*1069T>C, NM_001153585.1:c.*1069T>C, NM_001153663.1:c.*1069T>C, NM_001153690.1:c.*1069T>C, NM_001153446.1:c.*1069T>C, NM_001153635.1:c.*1069T>C

Select item 145837310218.

rs1458373102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140381620 (GRCh38)
4:141302774 (GRCh37)
Canonical SPDI:: NC_000004.12:140381619:A:T
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140381620A>T, NC_000004.11:g.141302774A>T, NM_032547.3:c.*516A>T, NM_032547.2:c.*516A>T, NM_001153484.2:c.*516A>T, NM_001153484.1:c.*516A>T, NM_001153552.2:c.*516A>T, NM_001153552.1:c.*516A>T, XM_047416067.1:c.*516A>T, XM_047416068.1:c.*516A>T, NM_001153585.1:c.*516A>T, NM_001153663.1:c.*516A>T, NM_001153690.1:c.*516A>T, NM_001153446.1:c.*516A>T, NM_001153635.1:c.*516A>T

Select item 145290078319.

rs1452900783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:140381278 (GRCh38)
4:141302432 (GRCh37)
Canonical SPDI:: NC_000004.12:140381276:TAT:T
Gene:: SCOC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140381278_140381279del, NC_000004.11:g.141302432_141302433del, NM_032547.3:c.*174_*175del, NM_032547.2:c.*174_*175del, NM_001153484.2:c.*174_*175del, NM_001153484.1:c.*174_*175del, NM_001153552.2:c.*174_*175del, NM_001153552.1:c.*174_*175del, XM_047416067.1:c.*174_*175del, XM_047416068.1:c.*174_*175del, NM_001153585.1:c.*174_*175del, NM_001153663.1:c.*174_*175del, NM_001153690.1:c.*174_*175del, NM_001153446.1:c.*174_*175del, NM_001153635.1:c.*174_*175del

Select item 145239856520.

rs1452398565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140343534 (GRCh38)
4:141264688 (GRCh37)
Canonical SPDI:: NC_000004.12:140343533:T:C
Gene:: SCOC (Varview), SCOC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140343534T>C, NC_000004.11:g.141264688T>C, XM_047416067.1:c.-285T>C, XM_047416068.1:c.-285T>C, NM_001153585.1:c.-105T>C, NM_001153690.1:c.-105T>C

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