SNP Links for Protein (Select 586798186) - SNP

Links from Protein

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Select item 14862065551.

rs1486206555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50276705 (GRCh38)
3:50314136 (GRCh37)
Canonical SPDI:: NC_000003.12:50276704:G:A
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,terminator_codon_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50276705G>A, NW_003871059.1:g.46553G>A, NG_032938.1:g.14098G>A, NM_004636.4:c.2249G>A, NM_004636.3:c.2249G>A, NM_004636.2:c.2249G>A, NM_001005914.3:c.2246G>A, NM_001005914.2:c.2246G>A, NM_001005914.1:c.2246G>A, NM_001290060.2:c.2249G>A, NM_001290060.1:c.2249G>A, NM_001290062.2:c.1220G>A, NM_001290062.1:c.1220G>A, NM_001290063.2:c.1220G>A, NM_001290063.1:c.1220G>A, NM_001290061.1:c.2264G>A, NR_110697.1:n.1262G>A, NC_000003.11:g.50314136G>A

Select item 14776147422.

rs1477614742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50276533 (GRCh38)
3:50313964 (GRCh37)
Canonical SPDI:: NC_000003.12:50276532:C:T
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.50276533C>T, NW_003871059.1:g.46381C>T, NG_032938.1:g.13926C>T, NM_004636.4:c.2077C>T, NM_004636.3:c.2077C>T, NM_004636.2:c.2077C>T, NM_001005914.3:c.2074C>T, NM_001005914.2:c.2074C>T, NM_001005914.1:c.2074C>T, NM_001290060.2:c.2077C>T, NM_001290060.1:c.2077C>T, NM_001290062.2:c.1048C>T, NM_001290062.1:c.1048C>T, NM_001290063.2:c.1048C>T, NM_001290063.1:c.1048C>T, NM_001290061.1:c.2092C>T, NR_110697.1:n.1090C>T, NC_000003.11:g.50313964C>T

Select item 14745094293.

rs1474509429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50274400 (GRCh38)
3:50311831 (GRCh37)
Canonical SPDI:: NC_000003.12:50274399:A:G
Gene:: SEMA3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50274400A>G, NW_003871059.1:g.44248A>G, NG_032938.1:g.11793A>G, NM_004636.4:c.1175A>G, NM_004636.3:c.1175A>G, NM_004636.2:c.1175A>G, NM_001005914.3:c.1172A>G, NM_001005914.2:c.1172A>G, NM_001005914.1:c.1172A>G, NM_001290060.2:c.1175A>G, NM_001290060.1:c.1175A>G, NM_001290062.2:c.146A>G, NM_001290062.1:c.146A>G, NM_001290063.2:c.146A>G, NM_001290063.1:c.146A>G, NM_001290061.1:c.1190A>G, NR_110697.1:n.346A>G, NC_000003.11:g.50311831A>G, NP_004627.1:p.Lys392Arg, NP_001005914.1:p.Lys391Arg, NP_001276989.1:p.Lys392Arg, NP_001276991.1:p.Lys49Arg, NP_001276992.1:p.Lys49Arg, NP_001276990.1:p.Lys397Arg

Select item 14641018324.

rs1464101832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50276505 (GRCh38)
3:50313936 (GRCh37)
Canonical SPDI:: NC_000003.12:50276504:G:C
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000117/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50276505G>C, NW_003871059.1:g.46353G>C, NG_032938.1:g.13898G>C, NM_004636.4:c.2049G>C, NM_004636.3:c.2049G>C, NM_004636.2:c.2049G>C, NM_001005914.3:c.2046G>C, NM_001005914.2:c.2046G>C, NM_001005914.1:c.2046G>C, NM_001290060.2:c.2049G>C, NM_001290060.1:c.2049G>C, NM_001290062.2:c.1020G>C, NM_001290062.1:c.1020G>C, NM_001290063.2:c.1020G>C, NM_001290063.1:c.1020G>C, NM_001290061.1:c.2064G>C, NR_110697.1:n.1062G>C, NC_000003.11:g.50313936G>C

Select item 14627767965.

rs1462776796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50273961 (GRCh38)
3:50311392 (GRCh37)
Canonical SPDI:: NC_000003.12:50273960:G:C
Gene:: SEMA3B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50273961G>C, NW_003871059.1:g.43809G>C, NG_032938.1:g.11354G>C, NM_004636.4:c.1041G>C, NM_004636.3:c.1041G>C, NM_004636.2:c.1041G>C, NM_001005914.3:c.1038G>C, NM_001005914.2:c.1038G>C, NM_001005914.1:c.1038G>C, NM_001290060.2:c.1041G>C, NM_001290060.1:c.1041G>C, NM_001290062.2:c.12G>C, NM_001290062.1:c.12G>C, NM_001290063.2:c.12G>C, NM_001290063.1:c.12G>C, NM_001290061.1:c.1056G>C, NC_000003.11:g.50311392G>C

Select item 14587023606.

rs1458702360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:50276556 (GRCh38)
3:50313987 (GRCh37)
Canonical SPDI:: NC_000003.12:50276555:A:C,NC_000003.12:50276555:A:G
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.50276556A>C, NC_000003.12:g.50276556A>G, NW_003871059.1:g.46404A>C, NW_003871059.1:g.46404A>G, NG_032938.1:g.13949A>C, NG_032938.1:g.13949A>G, NM_004636.4:c.2100A>C, NM_004636.4:c.2100A>G, NM_004636.3:c.2100A>C, NM_004636.3:c.2100A>G, NM_004636.2:c.2100A>C, NM_004636.2:c.2100A>G, NM_001005914.3:c.2097A>C, NM_001005914.3:c.2097A>G, NM_001005914.2:c.2097A>C, NM_001005914.2:c.2097A>G, NM_001005914.1:c.2097A>C, NM_001005914.1:c.2097A>G, NM_001290060.2:c.2100A>C, NM_001290060.2:c.2100A>G, NM_001290060.1:c.2100A>C, NM_001290060.1:c.2100A>G, NM_001290062.2:c.1071A>C, NM_001290062.2:c.1071A>G, NM_001290062.1:c.1071A>C, NM_001290062.1:c.1071A>G, NM_001290063.2:c.1071A>C, NM_001290063.2:c.1071A>G, NM_001290063.1:c.1071A>C, NM_001290063.1:c.1071A>G, NM_001290061.1:c.2115A>C, NM_001290061.1:c.2115A>G, NR_110697.1:n.1113A>C, NR_110697.1:n.1113A>G, NC_000003.11:g.50313987A>C, NC_000003.11:g.50313987A>G

Select item 14520751187.

rs1452075118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:50275800 (GRCh38)
3:50313231 (GRCh37)
Canonical SPDI:: NC_000003.12:50275799:G:A,NC_000003.12:50275799:G:C
Gene:: SEMA3B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.50275800G>A, NC_000003.12:g.50275800G>C, NW_003871059.1:g.45648G>A, NW_003871059.1:g.45648G>C, NG_032938.1:g.13193G>A, NG_032938.1:g.13193G>C, NM_004636.4:c.1801G>A, NM_004636.4:c.1801G>C, NM_004636.3:c.1801G>A, NM_004636.3:c.1801G>C, NM_004636.2:c.1801G>A, NM_004636.2:c.1801G>C, NM_001005914.3:c.1798G>A, NM_001005914.3:c.1798G>C, NM_001005914.2:c.1798G>A, NM_001005914.2:c.1798G>C, NM_001005914.1:c.1798G>A, NM_001005914.1:c.1798G>C, NM_001290060.2:c.1801G>A, NM_001290060.2:c.1801G>C, NM_001290060.1:c.1801G>A, NM_001290060.1:c.1801G>C, NM_001290062.2:c.772G>A, NM_001290062.2:c.772G>C, NM_001290062.1:c.772G>A, NM_001290062.1:c.772G>C, NM_001290063.2:c.772G>A, NM_001290063.2:c.772G>C, NM_001290063.1:c.772G>A, NM_001290063.1:c.772G>C, NM_001290061.1:c.1816G>A, NM_001290061.1:c.1816G>C, NR_110697.1:n.814G>A, NR_110697.1:n.814G>C, NC_000003.11:g.50313231G>A, NC_000003.11:g.50313231G>C, NP_004627.1:p.Val601Met, NP_004627.1:p.Val601Leu, NP_001005914.1:p.Val600Met, NP_001005914.1:p.Val600Leu, NP_001276989.1:p.Val601Met, NP_001276989.1:p.Val601Leu, NP_001276991.1:p.Val258Met, NP_001276991.1:p.Val258Leu, NP_001276992.1:p.Val258Met, NP_001276992.1:p.Val258Leu, NP_001276990.1:p.Val606Met, NP_001276990.1:p.Val606Leu

Select item 14519398218.

rs1451939821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:50275591 (GRCh38)
3:50313022 (GRCh37)
Canonical SPDI:: NC_000003.12:50275590:G:T
Gene:: SEMA3B (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 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50275591G>T, NW_003871059.1:g.45439G>T, NG_032938.1:g.12984G>T, NM_004636.4:c.1681G>T, NM_004636.3:c.1681G>T, NM_004636.2:c.1681G>T, NM_001005914.3:c.1678G>T, NM_001005914.2:c.1678G>T, NM_001005914.1:c.1678G>T, NM_001290060.2:c.1681G>T, NM_001290060.1:c.1681G>T, NM_001290062.2:c.652G>T, NM_001290062.1:c.652G>T, NM_001290063.2:c.652G>T, NM_001290063.1:c.652G>T, NM_001290061.1:c.1696G>T, NR_110697.1:n.694G>T, NC_000003.11:g.50313022G>T, NP_004627.1:p.Asp561Tyr, NP_001005914.1:p.Asp560Tyr, NP_001276989.1:p.Asp561Tyr, NP_001276991.1:p.Asp218Tyr, NP_001276992.1:p.Asp218Tyr, NP_001276990.1:p.Asp566Tyr

Select item 14472439419.

rs1447243941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:50276667 (GRCh38)
3:50314098 (GRCh37)
Canonical SPDI:: NC_000003.12:50276666:T:G
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50276667T>G, NW_003871059.1:g.46515T>G, NG_032938.1:g.14060T>G, NM_004636.4:c.2211T>G, NM_004636.3:c.2211T>G, NM_004636.2:c.2211T>G, NM_001005914.3:c.2208T>G, NM_001005914.2:c.2208T>G, NM_001005914.1:c.2208T>G, NM_001290060.2:c.2211T>G, NM_001290060.1:c.2211T>G, NM_001290062.2:c.1182T>G, NM_001290062.1:c.1182T>G, NM_001290063.2:c.1182T>G, NM_001290063.1:c.1182T>G, NM_001290061.1:c.2226T>G, NR_110697.1:n.1224T>G, NC_000003.11:g.50314098T>G

Select item 144487169810.

rs1444871698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50275769 (GRCh38)
3:50313200 (GRCh37)
Canonical SPDI:: NC_000003.12:50275768:G:A
Gene:: SEMA3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50275769G>A, NW_003871059.1:g.45617G>A, NG_032938.1:g.13162G>A, NM_004636.4:c.1770G>A, NM_004636.3:c.1770G>A, NM_004636.2:c.1770G>A, NM_001005914.3:c.1767G>A, NM_001005914.2:c.1767G>A, NM_001005914.1:c.1767G>A, NM_001290060.2:c.1770G>A, NM_001290060.1:c.1770G>A, NM_001290062.2:c.741G>A, NM_001290062.1:c.741G>A, NM_001290063.2:c.741G>A, NM_001290063.1:c.741G>A, NM_001290061.1:c.1785G>A, NR_110697.1:n.783G>A, NC_000003.11:g.50313200G>A

Select item 144472980811.

rs1444729808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:50276592 (GRCh38)
3:50314023 (GRCh37)
Canonical SPDI:: NC_000003.12:50276591:G:A,NC_000003.12:50276591:G:T
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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_000003.12:g.50276592G>A, NC_000003.12:g.50276592G>T, NW_003871059.1:g.46440G>A, NW_003871059.1:g.46440G>T, NG_032938.1:g.13985G>A, NG_032938.1:g.13985G>T, NM_004636.4:c.2136G>A, NM_004636.4:c.2136G>T, NM_004636.3:c.2136G>A, NM_004636.3:c.2136G>T, NM_004636.2:c.2136G>A, NM_004636.2:c.2136G>T, NM_001005914.3:c.2133G>A, NM_001005914.3:c.2133G>T, NM_001005914.2:c.2133G>A, NM_001005914.2:c.2133G>T, NM_001005914.1:c.2133G>A, NM_001005914.1:c.2133G>T, NM_001290060.2:c.2136G>A, NM_001290060.2:c.2136G>T, NM_001290060.1:c.2136G>A, NM_001290060.1:c.2136G>T, NM_001290062.2:c.1107G>A, NM_001290062.2:c.1107G>T, NM_001290062.1:c.1107G>A, NM_001290062.1:c.1107G>T, NM_001290063.2:c.1107G>A, NM_001290063.2:c.1107G>T, NM_001290063.1:c.1107G>A, NM_001290063.1:c.1107G>T, NM_001290061.1:c.2151G>A, NM_001290061.1:c.2151G>T, NR_110697.1:n.1149G>A, NR_110697.1:n.1149G>T, NC_000003.11:g.50314023G>A, NC_000003.11:g.50314023G>T

Select item 144426166112.

rs1444261661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50275319 (GRCh38)
3:50312750 (GRCh37)
Canonical SPDI:: NC_000003.12:50275318:C:T
Gene:: SEMA3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50275319C>T, NW_003871059.1:g.45167C>T, NG_032938.1:g.12712C>T, NM_004636.4:c.1509C>T, NM_004636.3:c.1509C>T, NM_004636.2:c.1509C>T, NM_001005914.3:c.1506C>T, NM_001005914.2:c.1506C>T, NM_001005914.1:c.1506C>T, NM_001290060.2:c.1509C>T, NM_001290060.1:c.1509C>T, NM_001290062.2:c.480C>T, NM_001290062.1:c.480C>T, NM_001290063.2:c.480C>T, NM_001290063.1:c.480C>T, NM_001290061.1:c.1524C>T, NC_000003.11:g.50312750C>T

Select item 144230708813.

rs1442307088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:50276637 (GRCh38)
3:50314068 (GRCh37)
Canonical SPDI:: NC_000003.12:50276636:C:A,NC_000003.12:50276636:C:T
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.50276637C>A, NC_000003.12:g.50276637C>T, NW_003871059.1:g.46485C>A, NW_003871059.1:g.46485C>T, NG_032938.1:g.14030C>A, NG_032938.1:g.14030C>T, NM_004636.4:c.2181C>A, NM_004636.4:c.2181C>T, NM_004636.3:c.2181C>A, NM_004636.3:c.2181C>T, NM_004636.2:c.2181C>A, NM_004636.2:c.2181C>T, NM_001005914.3:c.2178C>A, NM_001005914.3:c.2178C>T, NM_001005914.2:c.2178C>A, NM_001005914.2:c.2178C>T, NM_001005914.1:c.2178C>A, NM_001005914.1:c.2178C>T, NM_001290060.2:c.2181C>A, NM_001290060.2:c.2181C>T, NM_001290060.1:c.2181C>A, NM_001290060.1:c.2181C>T, NM_001290062.2:c.1152C>A, NM_001290062.2:c.1152C>T, NM_001290062.1:c.1152C>A, NM_001290062.1:c.1152C>T, NM_001290063.2:c.1152C>A, NM_001290063.2:c.1152C>T, NM_001290063.1:c.1152C>A, NM_001290063.1:c.1152C>T, NM_001290061.1:c.2196C>A, NM_001290061.1:c.2196C>T, NR_110697.1:n.1194C>A, NR_110697.1:n.1194C>T, NC_000003.11:g.50314068C>A, NC_000003.11:g.50314068C>T

Select item 143930691314.

rs1439306913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:50274554 (GRCh38)
3:50311985 (GRCh37)
Canonical SPDI:: NC_000003.12:50274553:A:T
Gene:: SEMA3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50274554A>T, NW_003871059.1:g.44402A>T, NG_032938.1:g.11947A>T, NM_004636.4:c.1329A>T, NM_004636.3:c.1329A>T, NM_004636.2:c.1329A>T, NM_001005914.3:c.1326A>T, NM_001005914.2:c.1326A>T, NM_001005914.1:c.1326A>T, NM_001290060.2:c.1329A>T, NM_001290060.1:c.1329A>T, NM_001290062.2:c.300A>T, NM_001290062.1:c.300A>T, NM_001290063.2:c.300A>T, NM_001290063.1:c.300A>T, NM_001290061.1:c.1344A>T, NR_110697.1:n.500A>T, NC_000003.11:g.50311985A>T

Select item 143199822915.

rs1431998229 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGCGCCGCCGGGCCC [Show Flanks]
Chromosome:: 3:50276489 (GRCh38)
3:50313921 (GRCh37)
Canonical SPDI:: NC_000003.12:50276489:GCCCGCCGCGCCGCCGGGCCC:GCCCGCCGCGCCGCCGGGCCCGCCGCGCCGCCGGGCCC
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCGCCGCGCCGCCGGGCCCGCCGCGCCGCCGGGCCC=0./0 (ALFA)
GCCCGCCGCGCCGCCGG=0.000004/1 (TOPMED)
GCCCGCCGCGCCGCCGG=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50276494_50276510dup, NW_003871059.1:g.46342_46358dup, NG_032938.1:g.13887_13903dup, NM_004636.4:c.2038_2054dup, NM_004636.3:c.2038_2054dup, NM_004636.2:c.2038_2054dup, NM_001005914.3:c.2035_2051dup, NM_001005914.2:c.2035_2051dup, NM_001005914.1:c.2035_2051dup, NM_001290060.2:c.2038_2054dup, NM_001290060.1:c.2038_2054dup, NM_001290062.2:c.1009_1025dup, NM_001290062.1:c.1009_1025dup, NM_001290063.2:c.1009_1025dup, NM_001290063.1:c.1009_1025dup, NM_001290061.1:c.2053_2069dup, NR_110697.1:n.1051_1067dup, NC_000003.11:g.50313925_50313941dup, NP_004627.1:p.Lys686fs, NP_001005914.1:p.Lys685fs, NP_001276989.1:p.Lys686fs, NP_001276991.1:p.Lys343fs, NP_001276992.1:p.Lys343fs, NP_001276990.1:p.Lys691fs

Select item 142727492016.

rs1427274920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:50274518 (GRCh38)
3:50311949 (GRCh37)
Canonical SPDI:: NC_000003.12:50274517:T:A
Gene:: SEMA3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50274518T>A, NW_003871059.1:g.44366T>A, NG_032938.1:g.11911T>A, NM_004636.4:c.1293T>A, NM_004636.3:c.1293T>A, NM_004636.2:c.1293T>A, NM_001005914.3:c.1290T>A, NM_001005914.2:c.1290T>A, NM_001005914.1:c.1290T>A, NM_001290060.2:c.1293T>A, NM_001290060.1:c.1293T>A, NM_001290062.2:c.264T>A, NM_001290062.1:c.264T>A, NM_001290063.2:c.264T>A, NM_001290063.1:c.264T>A, NM_001290061.1:c.1308T>A, NR_110697.1:n.464T>A, NC_000003.11:g.50311949T>A

Select item 142575258217.

rs1425752582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:50276509 (GRCh38)
3:50313940 (GRCh37)
Canonical SPDI:: NC_000003.12:50276508:C:G
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50276509C>G, NW_003871059.1:g.46357C>G, NG_032938.1:g.13902C>G, NM_004636.4:c.2053C>G, NM_004636.3:c.2053C>G, NM_004636.2:c.2053C>G, NM_001005914.3:c.2050C>G, NM_001005914.2:c.2050C>G, NM_001005914.1:c.2050C>G, NM_001290060.2:c.2053C>G, NM_001290060.1:c.2053C>G, NM_001290062.2:c.1024C>G, NM_001290062.1:c.1024C>G, NM_001290063.2:c.1024C>G, NM_001290063.1:c.1024C>G, NM_001290061.1:c.2068C>G, NR_110697.1:n.1066C>G, NC_000003.11:g.50313940C>G, NP_004627.1:p.Pro685Ala, NP_001005914.1:p.Pro684Ala, NP_001276989.1:p.Pro685Ala, NP_001276991.1:p.Pro342Ala, NP_001276992.1:p.Pro342Ala, NP_001276990.1:p.Pro690Ala

Select item 141857849218.

rs1418578492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:50276422 (GRCh38)
3:50313853 (GRCh37)
Canonical SPDI:: NC_000003.12:50276421:C:G
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50276422C>G, NW_003871059.1:g.46270C>G, NG_032938.1:g.13815C>G, NM_004636.4:c.1966C>G, NM_004636.3:c.1966C>G, NM_004636.2:c.1966C>G, NM_001005914.3:c.1963C>G, NM_001005914.2:c.1963C>G, NM_001005914.1:c.1963C>G, NM_001290060.2:c.1966C>G, NM_001290060.1:c.1966C>G, NM_001290062.2:c.937C>G, NM_001290062.1:c.937C>G, NM_001290063.2:c.937C>G, NM_001290063.1:c.937C>G, NM_001290061.1:c.1981C>G, NR_110697.1:n.979C>G, NC_000003.11:g.50313853C>G, NP_004627.1:p.Arg656Gly, NP_001005914.1:p.Arg655Gly, NP_001276989.1:p.Arg656Gly, NP_001276991.1:p.Arg313Gly, NP_001276992.1:p.Arg313Gly, NP_001276990.1:p.Arg661Gly

Select item 141378170319.

rs1413781703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50276615 (GRCh38)
3:50314046 (GRCh37)
Canonical SPDI:: NC_000003.12:50276614:C:T
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.50276615C>T, NW_003871059.1:g.46463C>T, NG_032938.1:g.14008C>T, NM_004636.4:c.2159C>T, NM_004636.3:c.2159C>T, NM_004636.2:c.2159C>T, NM_001005914.3:c.2156C>T, NM_001005914.2:c.2156C>T, NM_001005914.1:c.2156C>T, NM_001290060.2:c.2159C>T, NM_001290060.1:c.2159C>T, NM_001290062.2:c.1130C>T, NM_001290062.1:c.1130C>T, NM_001290063.2:c.1130C>T, NM_001290063.1:c.1130C>T, NM_001290061.1:c.2174C>T, NR_110697.1:n.1172C>T, NC_000003.11:g.50314046C>T, NP_004627.1:p.Pro720Leu, NP_001005914.1:p.Pro719Leu, NP_001276989.1:p.Pro720Leu, NP_001276991.1:p.Pro377Leu, NP_001276992.1:p.Pro377Leu, NP_001276990.1:p.Pro725Leu

Select item 140811515420.

rs1408115154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50276688 (GRCh38)
3:50314119 (GRCh37)
Canonical SPDI:: NC_000003.12:50276687:C:T
Gene:: SEMA3B (Varview), LSMEM2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50276688C>T, NW_003871059.1:g.46536C>T, NG_032938.1:g.14081C>T, NM_004636.4:c.2232C>T, NM_004636.3:c.2232C>T, NM_004636.2:c.2232C>T, NM_001005914.3:c.2229C>T, NM_001005914.2:c.2229C>T, NM_001005914.1:c.2229C>T, NM_001290060.2:c.2232C>T, NM_001290060.1:c.2232C>T, NM_001290062.2:c.1203C>T, NM_001290062.1:c.1203C>T, NM_001290063.2:c.1203C>T, NM_001290063.1:c.1203C>T, NM_001290061.1:c.2247C>T, NR_110697.1:n.1245C>T, NC_000003.11:g.50314119C>T

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