SNP Links for Protein (Select 1189690241) - SNP

Links from Protein

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Select item 14893231021.

rs1489323102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80828603 (GRCh38)
7:80457919 (GRCh37)
Canonical SPDI:: NC_000007.14:80828602:T:C
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80828603T>C, NC_000007.13:g.80457919T>C, NG_054744.2:g.98786A>G, NG_054744.1:g.98777A>G, NM_006379.5:c.246A>G, NM_006379.4:c.246A>G, NM_006379.3:c.246A>G, NM_001350121.2:c.72A>G, NM_001350121.1:c.72A>G, NM_001350120.2:c.300A>G, NM_001350120.1:c.300A>G, NP_006370.1:p.Ile82Met, NP_001337050.1:p.Ile24Met, NP_001337049.1:p.Ile100Met

Select item 14855754342.

rs1485575434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:80765239 (GRCh38)
7:80394555 (GRCh37)
Canonical SPDI:: NC_000007.14:80765238:C:A
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.80765239C>A, NC_000007.13:g.80394555C>A, NG_054744.2:g.162150G>T, NG_054744.1:g.162141G>T, NM_006379.5:c.1359G>T, NM_006379.4:c.1359G>T, NM_006379.3:c.1359G>T, NM_001350121.2:c.1185G>T, NM_001350121.1:c.1185G>T, NM_001350120.2:c.1413G>T, NM_001350120.1:c.1413G>T

Select item 14844132753.

rs1484413275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:80818338 (GRCh38)
7:80447654 (GRCh37)
Canonical SPDI:: NC_000007.14:80818337:A:G,NC_000007.14:80818337:A:T
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80818338A>G, NC_000007.14:g.80818338A>T, NC_000007.13:g.80447654A>G, NC_000007.13:g.80447654A>T, NG_054744.2:g.109051T>C, NG_054744.2:g.109051T>A, NG_054744.1:g.109042T>C, NG_054744.1:g.109042T>A, NM_006379.5:c.408T>C, NM_006379.5:c.408T>A, NM_006379.4:c.408T>C, NM_006379.4:c.408T>A, NM_006379.3:c.408T>C, NM_006379.3:c.408T>A, NM_001350121.2:c.234T>C, NM_001350121.2:c.234T>A, NM_001350121.1:c.234T>C, NM_001350121.1:c.234T>A, NM_001350120.2:c.462T>C, NM_001350120.2:c.462T>A, NM_001350120.1:c.462T>C, NM_001350120.1:c.462T>A, NP_006370.1:p.Ser136Arg, NP_001337050.1:p.Ser78Arg, NP_001337049.1:p.Ser154Arg

Select item 14824748274.

rs1482474827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:80810671 (GRCh38)
7:80439987 (GRCh37)
Canonical SPDI:: NC_000007.14:80810670:C:G
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80810671C>G, NC_000007.13:g.80439987C>G, NG_054744.2:g.116718G>C, NG_054744.1:g.116709G>C, NM_006379.5:c.478G>C, NM_006379.4:c.478G>C, NM_006379.3:c.478G>C, NM_001350121.2:c.304G>C, NM_001350121.1:c.304G>C, NM_001350120.2:c.532G>C, NM_001350120.1:c.532G>C, NP_006370.1:p.Glu160Gln, NP_001337050.1:p.Glu102Gln, NP_001337049.1:p.Glu178Gln

Select item 14824354925.

rs1482435492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80758336 (GRCh38)
7:80387652 (GRCh37)
Canonical SPDI:: NC_000007.14:80758335:C:T
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.80758336C>T, NC_000007.13:g.80387652C>T, NG_054744.2:g.169053G>A, NG_054744.1:g.169044G>A, NM_006379.5:c.1638G>A, NM_006379.4:c.1638G>A, NM_006379.3:c.1638G>A, NM_001350121.2:c.1464G>A, NM_001350121.1:c.1464G>A, NM_001350120.2:c.1692G>A, NM_001350120.1:c.1692G>A

Select item 14822209396.

rs1482220939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:80798154 (GRCh38)
7:80427470 (GRCh37)
Canonical SPDI:: NC_000007.14:80798153:C:A
Gene:: SEMA3C (Varview), LOC124901686 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.80798154C>A, NC_000007.13:g.80427470C>A, NG_054744.2:g.129235G>T, NG_054744.1:g.129226G>T, NM_006379.5:c.1069G>T, NM_006379.4:c.1069G>T, NM_006379.3:c.1069G>T, NM_001350121.2:c.895G>T, NM_001350121.1:c.895G>T, NM_001350120.2:c.1123G>T, NM_001350120.1:c.1123G>T, NP_006370.1:p.Glu357Ter, NP_001337050.1:p.Glu299Ter, NP_001337049.1:p.Glu375Ter

Select item 14787173117.

rs1478717311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80828610 (GRCh38)
7:80457926 (GRCh37)
Canonical SPDI:: NC_000007.14:80828609:T:C
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.80828610T>C, NC_000007.13:g.80457926T>C, NG_054744.2:g.98779A>G, NG_054744.1:g.98770A>G, NM_006379.5:c.239A>G, NM_006379.4:c.239A>G, NM_006379.3:c.239A>G, NM_001350121.2:c.65A>G, NM_001350121.1:c.65A>G, NM_001350120.2:c.293A>G, NM_001350120.1:c.293A>G, NP_006370.1:p.Asn80Ser, NP_001337050.1:p.Asn22Ser, NP_001337049.1:p.Asn98Ser

Select item 14741804848.

rs1474180484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80827448 (GRCh38)
7:80456764 (GRCh37)
Canonical SPDI:: NC_000007.14:80827447:T:C
Gene:: SEMA3C (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80827448T>C, NC_000007.13:g.80456764T>C, NG_054744.2:g.99941A>G, NG_054744.1:g.99932A>G, NM_006379.5:c.304A>G, NM_006379.4:c.304A>G, NM_006379.3:c.304A>G, NM_001350121.2:c.130A>G, NM_001350121.1:c.130A>G, NM_001350120.2:c.358A>G, NM_001350120.1:c.358A>G, NP_006370.1:p.Lys102Glu, NP_001337050.1:p.Lys44Glu, NP_001337049.1:p.Lys120Glu

Select item 14740438999.

rs1474043899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80818348 (GRCh38)
7:80447664 (GRCh37)
Canonical SPDI:: NC_000007.14:80818347:C:T
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80818348C>T, NC_000007.13:g.80447664C>T, NG_054744.2:g.109041G>A, NG_054744.1:g.109032G>A, NM_006379.5:c.398G>A, NM_006379.4:c.398G>A, NM_006379.3:c.398G>A, NM_001350121.2:c.224G>A, NM_001350121.1:c.224G>A, NM_001350120.2:c.452G>A, NM_001350120.1:c.452G>A, NP_006370.1:p.Gly133Asp, NP_001337050.1:p.Gly75Asp, NP_001337049.1:p.Gly151Asp

Select item 147360230710.

rs1473602307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:80758424 (GRCh38)
7:80387740 (GRCh37)
Canonical SPDI:: NC_000007.14:80758423:T:C,NC_000007.14:80758423:T:G
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.80758424T>C, NC_000007.14:g.80758424T>G, NC_000007.13:g.80387740T>C, NC_000007.13:g.80387740T>G, NG_054744.2:g.168965A>G, NG_054744.2:g.168965A>C, NG_054744.1:g.168956A>G, NG_054744.1:g.168956A>C, NM_006379.5:c.1550A>G, NM_006379.5:c.1550A>C, NM_006379.4:c.1550A>G, NM_006379.4:c.1550A>C, NM_006379.3:c.1550A>G, NM_006379.3:c.1550A>C, NM_001350121.2:c.1376A>G, NM_001350121.2:c.1376A>C, NM_001350121.1:c.1376A>G, NM_001350121.1:c.1376A>C, NM_001350120.2:c.1604A>G, NM_001350120.2:c.1604A>C, NM_001350120.1:c.1604A>G, NM_001350120.1:c.1604A>C, NP_006370.1:p.Tyr517Cys, NP_006370.1:p.Tyr517Ser, NP_001337050.1:p.Tyr459Cys, NP_001337050.1:p.Tyr459Ser, NP_001337049.1:p.Tyr535Cys, NP_001337049.1:p.Tyr535Ser

Select item 147245382811.

rs1472453828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80818393 (GRCh38)
7:80447709 (GRCh37)
Canonical SPDI:: NC_000007.14:80818392:A:G
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.80818393A>G, NC_000007.13:g.80447709A>G, NG_054744.2:g.108996T>C, NG_054744.1:g.108987T>C, NM_006379.5:c.353T>C, NM_006379.4:c.353T>C, NM_006379.3:c.353T>C, NM_001350121.2:c.179T>C, NM_001350121.1:c.179T>C, NM_001350120.2:c.407T>C, NM_001350120.1:c.407T>C, NP_006370.1:p.Val118Ala, NP_001337050.1:p.Val60Ala, NP_001337049.1:p.Val136Ala

Select item 147163673512.

rs1471636735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80789439 (GRCh38)
7:80418755 (GRCh37)
Canonical SPDI:: NC_000007.14:80789438:C:T
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.80789439C>T, NC_000007.13:g.80418755C>T, NG_054744.2:g.137950G>A, NG_054744.1:g.137941G>A, NM_006379.5:c.1221G>A, NM_006379.4:c.1221G>A, NM_006379.3:c.1221G>A, NM_001350121.2:c.1047G>A, NM_001350121.1:c.1047G>A, NM_001350120.2:c.1275G>A, NM_001350120.1:c.1275G>A, NP_006370.1:p.Met407Ile, NP_001337050.1:p.Met349Ile, NP_001337049.1:p.Met425Ile

Select item 146867838413.

rs1468678384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:80745124 (GRCh38)
7:80374440 (GRCh37)
Canonical SPDI:: NC_000007.14:80745123:G:A,NC_000007.14:80745123:G:C
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80745124G>A, NC_000007.14:g.80745124G>C, NC_000007.13:g.80374440G>A, NC_000007.13:g.80374440G>C, NG_054744.2:g.182265C>T, NG_054744.2:g.182265C>G, NG_054744.1:g.182255C>T, NG_054744.1:g.182255C>G, NM_006379.5:c.2026C>T, NM_006379.5:c.2026C>G, NM_006379.4:c.2026C>T, NM_006379.4:c.2026C>G, NM_006379.3:c.2026C>T, NM_006379.3:c.2026C>G, NM_001350121.2:c.1852C>T, NM_001350121.2:c.1852C>G, NM_001350121.1:c.1852C>T, NM_001350121.1:c.1852C>G, NM_001350120.2:c.2080C>T, NM_001350120.2:c.2080C>G, NM_001350120.1:c.2080C>T, NM_001350120.1:c.2080C>G, NP_006370.1:p.Pro676Ser, NP_006370.1:p.Pro676Ala, NP_001337050.1:p.Pro618Ser, NP_001337050.1:p.Pro618Ala, NP_001337049.1:p.Pro694Ser, NP_001337049.1:p.Pro694Ala

Select item 146803452314.

rs1468034523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80761643 (GRCh38)
7:80390959 (GRCh37)
Canonical SPDI:: NC_000007.14:80761642:T:C
Gene:: SEMA3C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.80761643T>C, NC_000007.13:g.80390959T>C, NG_054744.2:g.165746A>G, NG_054744.1:g.165737A>G, NM_006379.5:c.1458A>G, NM_006379.4:c.1458A>G, NM_006379.3:c.1458A>G, NM_001350121.2:c.1284A>G, NM_001350121.1:c.1284A>G, NM_001350120.2:c.1512A>G, NM_001350120.1:c.1512A>G, NP_006370.1:p.Ile486Met, NP_001337050.1:p.Ile428Met, NP_001337049.1:p.Ile504Met

Select item 146282217915.

rs1462822179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:80744998 (GRCh38)
7:80374314 (GRCh37)
Canonical SPDI:: NC_000007.14:80744997:G:A
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80744998G>A, NC_000007.13:g.80374314G>A, NG_054744.2:g.182391C>T, NG_054744.1:g.182381C>T, NM_006379.5:c.2152C>T, NM_006379.4:c.2152C>T, NM_006379.3:c.2152C>T, NM_001350121.2:c.1978C>T, NM_001350121.1:c.1978C>T, NM_001350120.2:c.2206C>T, NM_001350120.1:c.2206C>T, NP_006370.1:p.Gln718Ter, NP_001337050.1:p.Gln660Ter, NP_001337049.1:p.Gln736Ter

Select item 145937112016.

rs1459371120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80758463 (GRCh38)
7:80387779 (GRCh37)
Canonical SPDI:: NC_000007.14:80758462:T:C
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80758463T>C, NC_000007.13:g.80387779T>C, NG_054744.2:g.168926A>G, NG_054744.1:g.168917A>G, NM_006379.5:c.1511A>G, NM_006379.4:c.1511A>G, NM_006379.3:c.1511A>G, NM_001350121.2:c.1337A>G, NM_001350121.1:c.1337A>G, NM_001350120.2:c.1565A>G, NM_001350120.1:c.1565A>G, NP_006370.1:p.Glu504Gly, NP_001337050.1:p.Glu446Gly, NP_001337049.1:p.Glu522Gly

Select item 145928951417.

rs1459289514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80828606 (GRCh38)
7:80457922 (GRCh37)
Canonical SPDI:: NC_000007.14:80828605:A:G
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_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)
HGVS:: NC_000007.14:g.80828606A>G, NC_000007.13:g.80457922A>G, NG_054744.2:g.98783T>C, NG_054744.1:g.98774T>C, NM_006379.5:c.243T>C, NM_006379.4:c.243T>C, NM_006379.3:c.243T>C, NM_001350121.2:c.69T>C, NM_001350121.1:c.69T>C, NM_001350120.2:c.297T>C, NM_001350120.1:c.297T>C

Select item 145739982718.

rs1457399827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80745149 (GRCh38)
7:80374465 (GRCh37)
Canonical SPDI:: NC_000007.14:80745148:C:T
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80745149C>T, NC_000007.13:g.80374465C>T, NG_054744.2:g.182240G>A, NG_054744.1:g.182230G>A, NM_006379.5:c.2001G>A, NM_006379.4:c.2001G>A, NM_006379.3:c.2001G>A, NM_001350121.2:c.1827G>A, NM_001350121.1:c.1827G>A, NM_001350120.2:c.2055G>A, NM_001350120.1:c.2055G>A

Select item 145731355819.

rs1457313558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:80758429 (GRCh38)
7:80387745 (GRCh37)
Canonical SPDI:: NC_000007.14:80758428:G:A
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.80758429G>A, NC_000007.13:g.80387745G>A, NG_054744.2:g.168960C>T, NG_054744.1:g.168951C>T, NM_006379.5:c.1545C>T, NM_006379.4:c.1545C>T, NM_006379.3:c.1545C>T, NM_001350121.2:c.1371C>T, NM_001350121.1:c.1371C>T, NM_001350120.2:c.1599C>T, NM_001350120.1:c.1599C>T

Select item 145678386120.

rs1456783861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:80765237 (GRCh38)
7:80394553 (GRCh37)
Canonical SPDI:: NC_000007.14:80765236:C:A,NC_000007.14:80765236:C:T
Gene:: SEMA3C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.80765237C>A, NC_000007.14:g.80765237C>T, NC_000007.13:g.80394553C>A, NC_000007.13:g.80394553C>T, NG_054744.2:g.162152G>T, NG_054744.2:g.162152G>A, NG_054744.1:g.162143G>T, NG_054744.1:g.162143G>A, NM_006379.5:c.1361G>T, NM_006379.5:c.1361G>A, NM_006379.4:c.1361G>T, NM_006379.4:c.1361G>A, NM_006379.3:c.1361G>T, NM_006379.3:c.1361G>A, NM_001350121.2:c.1187G>T, NM_001350121.2:c.1187G>A, NM_001350121.1:c.1187G>T, NM_001350121.1:c.1187G>A, NM_001350120.2:c.1415G>T, NM_001350120.2:c.1415G>A, NM_001350120.1:c.1415G>T, NM_001350120.1:c.1415G>A, NP_006370.1:p.Gly454Val, NP_006370.1:p.Gly454Asp, NP_001337050.1:p.Gly396Val, NP_001337050.1:p.Gly396Asp, NP_001337049.1:p.Gly472Val, NP_001337049.1:p.Gly472Asp

dbSNP

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