SNP Links for Protein (Select 4759146) - SNP

Links from Protein

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Select item 14909894871.

rs1490989487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20548538 (GRCh38)
4:20550161 (GRCh37)
Canonical SPDI:: NC_000004.12:20548537:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.20548538A>G, NC_000004.11:g.20550161A>G, NG_047105.1:g.301614A>G, NM_004787.4:c.2396A>G, NM_004787.3:c.2396A>G, NM_004787.2:c.2396A>G, NM_004787.1:c.2396A>G, NM_001289135.3:c.2384A>G, NM_001289135.2:c.2384A>G, NM_001289135.1:c.2384A>G, NM_001289136.3:c.2372A>G, NM_001289136.2:c.2372A>G, NM_001289136.1:c.2372A>G, XM_005248211.3:c.2408A>G, XM_005248211.2:c.2408A>G, XM_005248211.1:c.2408A>G, XM_011513909.3:c.2306A>G, XM_011513909.2:c.2306A>G, XM_011513909.1:c.2306A>G, XM_011513910.2:c.1286A>G, XM_011513910.1:c.1124A>G, XM_017008845.2:c.2294A>G, XM_017008845.1:c.2294A>G, NP_004778.1:p.Asn799Ser, NP_001276064.1:p.Asn795Ser, NP_001276065.1:p.Asn791Ser, XP_005248268.1:p.Asn803Ser, XP_011512211.1:p.Asn769Ser, XP_011512212.2:p.Asn429Ser, XP_016864334.1:p.Asn765Ser

Select item 14903990682.

rs1490399068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:20510552 (GRCh38)
4:20512175 (GRCh37)
Canonical SPDI:: NC_000004.12:20510551:A:T
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.20510552A>T, NC_000004.11:g.20512175A>T, NG_047105.1:g.263628A>T, NM_004787.4:c.972A>T, NM_004787.3:c.972A>T, NM_004787.2:c.972A>T, NM_004787.1:c.972A>T, NM_001289135.3:c.984A>T, NM_001289135.2:c.984A>T, NM_001289135.1:c.984A>T, NM_001289136.3:c.972A>T, NM_001289136.2:c.972A>T, NM_001289136.1:c.972A>T, XM_005248211.3:c.984A>T, XM_005248211.2:c.984A>T, XM_005248211.1:c.984A>T, XM_006713986.3:c.984A>T, XM_006713986.2:c.984A>T, XM_006713986.1:c.984A>T, XM_011513909.3:c.882A>T, XM_011513909.2:c.882A>T, XM_011513909.1:c.882A>T, XM_017008845.2:c.870A>T, XM_017008845.1:c.870A>T, NP_004778.1:p.Lys324Asn, NP_001276064.1:p.Lys328Asn, NP_001276065.1:p.Lys324Asn, XP_005248268.1:p.Lys328Asn, XP_006714049.1:p.Lys328Asn, XP_011512211.1:p.Lys294Asn, XP_016864334.1:p.Lys290Asn

Select item 14899374883.

rs1489937488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20533614 (GRCh38)
4:20535237 (GRCh37)
Canonical SPDI:: NC_000004.12:20533613:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.20533614A>G, NC_000004.11:g.20535237A>G, NG_047105.1:g.286690A>G, NM_004787.4:c.1731A>G, NM_004787.3:c.1731A>G, NM_004787.2:c.1731A>G, NM_004787.1:c.1731A>G, NM_001289135.3:c.1719A>G, NM_001289135.2:c.1719A>G, NM_001289135.1:c.1719A>G, NM_001289136.3:c.1707A>G, NM_001289136.2:c.1707A>G, NM_001289136.1:c.1707A>G, XM_005248211.3:c.1743A>G, XM_005248211.2:c.1743A>G, XM_005248211.1:c.1743A>G, XM_006713986.3:c.1743A>G, XM_006713986.2:c.1743A>G, XM_006713986.1:c.1743A>G, XM_011513909.3:c.1641A>G, XM_011513909.2:c.1641A>G, XM_011513909.1:c.1641A>G, XM_011513910.2:c.621A>G, XM_011513910.1:c.459A>G, XM_017008845.2:c.1629A>G, XM_017008845.1:c.1629A>G

Select item 14894166864.

rs1489416686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:20617626 (GRCh38)
4:20619249 (GRCh37)
Canonical SPDI:: NC_000004.12:20617625:T:C
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.20617626T>C, NC_000004.11:g.20619249T>C, NG_047105.1:g.370702T>C, NM_004787.4:c.4324T>C, NM_004787.3:c.4324T>C, NM_004787.2:c.4324T>C, NM_004787.1:c.4324T>C, NM_001289135.3:c.4312T>C, NM_001289135.2:c.4312T>C, NM_001289135.1:c.4312T>C, NM_001289136.3:c.4300T>C, NM_001289136.2:c.4300T>C, NM_001289136.1:c.4300T>C, XM_005248211.3:c.4336T>C, XM_005248211.2:c.4336T>C, XM_005248211.1:c.4336T>C, XM_006713986.3:c.4264T>C, XM_006713986.2:c.4264T>C, XM_006713986.1:c.4264T>C, XM_011513909.3:c.4234T>C, XM_011513909.2:c.4234T>C, XM_011513909.1:c.4234T>C, XM_011513910.2:c.3214T>C, XM_011513910.1:c.3052T>C, XM_017008845.2:c.4222T>C, XM_017008845.1:c.4222T>C, NP_004778.1:p.Tyr1442His, NP_001276064.1:p.Tyr1438His, NP_001276065.1:p.Tyr1434His, XP_005248268.1:p.Tyr1446His, XP_006714049.1:p.Tyr1422His, XP_011512211.1:p.Tyr1412His, XP_011512212.2:p.Tyr1072His, XP_016864334.1:p.Tyr1408His

Select item 14893710405.

rs1489371040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20253877 (GRCh38)
4:20255500 (GRCh37)
Canonical SPDI:: NC_000004.12:20253876:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.20253877A>G, NC_000004.11:g.20255500A>G, NG_047105.1:g.6953A>G, NM_004787.4:c.62A>G, NM_004787.3:c.62A>G, NM_004787.2:c.62A>G, NM_004787.1:c.62A>G, NM_001289135.3:c.62A>G, NM_001289135.2:c.62A>G, NM_001289135.1:c.62A>G, NM_001289136.3:c.62A>G, NM_001289136.2:c.62A>G, NM_001289136.1:c.62A>G, XM_005248211.3:c.62A>G, XM_005248211.2:c.62A>G, XM_005248211.1:c.62A>G, XM_006713986.3:c.62A>G, XM_006713986.2:c.62A>G, XM_006713986.1:c.62A>G, NP_004778.1:p.Asn21Ser, NP_001276064.1:p.Asn21Ser, NP_001276065.1:p.Asn21Ser, XP_005248268.1:p.Asn21Ser, XP_006714049.1:p.Asn21Ser

Select item 14878874746.

rs1487887474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20596489 (GRCh38)
4:20598112 (GRCh37)
Canonical SPDI:: NC_000004.12:20596488:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20596489A>G, NC_000004.11:g.20598112A>G, NG_047105.1:g.349565A>G, NM_004787.4:c.3395A>G, NM_004787.3:c.3395A>G, NM_004787.2:c.3395A>G, NM_004787.1:c.3395A>G, NM_001289135.3:c.3383A>G, NM_001289135.2:c.3383A>G, NM_001289135.1:c.3383A>G, NM_001289136.3:c.3371A>G, NM_001289136.2:c.3371A>G, NM_001289136.1:c.3371A>G, XM_005248211.3:c.3407A>G, XM_005248211.2:c.3407A>G, XM_005248211.1:c.3407A>G, XM_006713986.3:c.3335A>G, XM_006713986.2:c.3335A>G, XM_006713986.1:c.3335A>G, XM_011513909.3:c.3305A>G, XM_011513909.2:c.3305A>G, XM_011513909.1:c.3305A>G, XM_011513910.2:c.2285A>G, XM_011513910.1:c.2123A>G, XM_017008845.2:c.3293A>G, XM_017008845.1:c.3293A>G, NP_004778.1:p.Asn1132Ser, NP_001276064.1:p.Asn1128Ser, NP_001276065.1:p.Asn1124Ser, XP_005248268.1:p.Asn1136Ser, XP_006714049.1:p.Asn1112Ser, XP_011512211.1:p.Asn1102Ser, XP_011512212.2:p.Asn762Ser, XP_016864334.1:p.Asn1098Ser

Select item 14875470207.

rs1487547020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20542600 (GRCh38)
4:20544223 (GRCh37)
Canonical SPDI:: NC_000004.12:20542599:A:G
Gene:: SLIT2 (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20542600A>G, NC_000004.11:g.20544223A>G, NG_047105.1:g.295676A>G, NM_004787.4:c.2250A>G, NM_004787.3:c.2250A>G, NM_004787.2:c.2250A>G, NM_004787.1:c.2250A>G, NM_001289135.3:c.2238A>G, NM_001289135.2:c.2238A>G, NM_001289135.1:c.2238A>G, NM_001289136.3:c.2226A>G, NM_001289136.2:c.2226A>G, NM_001289136.1:c.2226A>G, XM_005248211.3:c.2262A>G, XM_005248211.2:c.2262A>G, XM_005248211.1:c.2262A>G, XM_006713986.3:c.2262A>G, XM_006713986.2:c.2262A>G, XM_006713986.1:c.2262A>G, XM_011513909.3:c.2160A>G, XM_011513909.2:c.2160A>G, XM_011513909.1:c.2160A>G, XM_011513910.2:c.1140A>G, XM_011513910.1:c.978A>G, XM_017008845.2:c.2148A>G, XM_017008845.1:c.2148A>G

Select item 14873570038.

rs1487357003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:20618948 (GRCh38)
4:20620571 (GRCh37)
Canonical SPDI:: NC_000004.12:20618947:C:T
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.20618948C>T, NC_000004.11:g.20620571C>T, NG_047105.1:g.372024C>T, NM_004787.4:c.4529C>T, NM_004787.3:c.4529C>T, NM_004787.2:c.4529C>T, NM_004787.1:c.4529C>T, NM_001289135.3:c.4517C>T, NM_001289135.2:c.4517C>T, NM_001289135.1:c.4517C>T, NM_001289136.3:c.4505C>T, NM_001289136.2:c.4505C>T, NM_001289136.1:c.4505C>T, XM_005248211.3:c.4541C>T, XM_005248211.2:c.4541C>T, XM_005248211.1:c.4541C>T, XM_006713986.3:c.4469C>T, XM_006713986.2:c.4469C>T, XM_006713986.1:c.4469C>T, XM_011513909.3:c.4439C>T, XM_011513909.2:c.4439C>T, XM_011513909.1:c.4439C>T, XM_011513910.2:c.3419C>T, XM_011513910.1:c.3257C>T, XM_017008845.2:c.4427C>T, XM_017008845.1:c.4427C>T, NP_004778.1:p.Ser1510Phe, NP_001276064.1:p.Ser1506Phe, NP_001276065.1:p.Ser1502Phe, XP_005248268.1:p.Ser1514Phe, XP_006714049.1:p.Ser1490Phe, XP_011512211.1:p.Ser1480Phe, XP_011512212.2:p.Ser1140Phe, XP_016864334.1:p.Ser1476Phe

Select item 14867656359.

rs1486765635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:20491896 (GRCh38)
4:20493519 (GRCh37)
Canonical SPDI:: NC_000004.12:20491895:A:G,NC_000004.12:20491895:A:T
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.20491896A>G, NC_000004.12:g.20491896A>T, NC_000004.11:g.20493519A>G, NC_000004.11:g.20493519A>T, NG_047105.1:g.244972A>G, NG_047105.1:g.244972A>T, NM_004787.4:c.911A>G, NM_004787.4:c.911A>T, NM_004787.3:c.911A>G, NM_004787.3:c.911A>T, NM_004787.2:c.911A>G, NM_004787.2:c.911A>T, NM_004787.1:c.911A>G, NM_004787.1:c.911A>T, NM_001289135.3:c.923A>G, NM_001289135.3:c.923A>T, NM_001289135.2:c.923A>G, NM_001289135.2:c.923A>T, NM_001289135.1:c.923A>G, NM_001289135.1:c.923A>T, NM_001289136.3:c.911A>G, NM_001289136.3:c.911A>T, NM_001289136.2:c.911A>G, NM_001289136.2:c.911A>T, NM_001289136.1:c.911A>G, NM_001289136.1:c.911A>T, XM_005248211.3:c.923A>G, XM_005248211.3:c.923A>T, XM_005248211.2:c.923A>G, XM_005248211.2:c.923A>T, XM_005248211.1:c.923A>G, XM_005248211.1:c.923A>T, XM_006713986.3:c.923A>G, XM_006713986.3:c.923A>T, XM_006713986.2:c.923A>G, XM_006713986.2:c.923A>T, XM_006713986.1:c.923A>G, XM_006713986.1:c.923A>T, XM_011513909.3:c.821A>G, XM_011513909.3:c.821A>T, XM_011513909.2:c.821A>G, XM_011513909.2:c.821A>T, XM_011513909.1:c.821A>G, XM_011513909.1:c.821A>T, XM_017008845.2:c.809A>G, XM_017008845.2:c.809A>T, XM_017008845.1:c.809A>G, XM_017008845.1:c.809A>T, NP_004778.1:p.Glu304Gly, NP_004778.1:p.Glu304Val, NP_001276064.1:p.Glu308Gly, NP_001276064.1:p.Glu308Val, NP_001276065.1:p.Glu304Gly, NP_001276065.1:p.Glu304Val, XP_005248268.1:p.Glu308Gly, XP_005248268.1:p.Glu308Val, XP_006714049.1:p.Glu308Gly, XP_006714049.1:p.Glu308Val, XP_011512211.1:p.Glu274Gly, XP_011512211.1:p.Glu274Val, XP_016864334.1:p.Glu270Gly, XP_016864334.1:p.Glu270Val

Select item 148659120610.

rs1486591206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:20480780 (GRCh38)
4:20482403 (GRCh37)
Canonical SPDI:: NC_000004.12:20480779:G:C
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.20480780G>C, NC_000004.11:g.20482403G>C, NG_047105.1:g.233856G>C, NM_004787.4:c.532G>C, NM_004787.3:c.532G>C, NM_004787.2:c.532G>C, NM_004787.1:c.532G>C, NM_001289135.3:c.532G>C, NM_001289135.2:c.532G>C, NM_001289135.1:c.532G>C, NM_001289136.3:c.532G>C, NM_001289136.2:c.532G>C, NM_001289136.1:c.532G>C, XM_005248211.3:c.532G>C, XM_005248211.2:c.532G>C, XM_005248211.1:c.532G>C, XM_006713986.3:c.532G>C, XM_006713986.2:c.532G>C, XM_006713986.1:c.532G>C, XM_011513909.3:c.430G>C, XM_011513909.2:c.430G>C, XM_011513909.1:c.430G>C, XM_017008845.2:c.430G>C, XM_017008845.1:c.430G>C, NP_004778.1:p.Glu178Gln, NP_001276064.1:p.Glu178Gln, NP_001276065.1:p.Glu178Gln, XP_005248268.1:p.Glu178Gln, XP_006714049.1:p.Glu178Gln, XP_011512211.1:p.Glu144Gln, XP_016864334.1:p.Glu144Gln

Select item 148559370611.

rs1485593706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:20533713 (GRCh38)
4:20535336 (GRCh37)
Canonical SPDI:: NC_000004.12:20533712:T:G
Gene:: SLIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20533713T>G, NC_000004.11:g.20535336T>G, NG_047105.1:g.286789T>G, NM_004787.4:c.1830T>G, NM_004787.3:c.1830T>G, NM_004787.2:c.1830T>G, NM_004787.1:c.1830T>G, NM_001289135.3:c.1818T>G, NM_001289135.2:c.1818T>G, NM_001289135.1:c.1818T>G, NM_001289136.3:c.1806T>G, NM_001289136.2:c.1806T>G, NM_001289136.1:c.1806T>G, XM_005248211.3:c.1842T>G, XM_005248211.2:c.1842T>G, XM_005248211.1:c.1842T>G, XM_006713986.3:c.1842T>G, XM_006713986.2:c.1842T>G, XM_006713986.1:c.1842T>G, XM_011513909.3:c.1740T>G, XM_011513909.2:c.1740T>G, XM_011513909.1:c.1740T>G, XM_011513910.2:c.720T>G, XM_011513910.1:c.558T>G, XM_017008845.2:c.1728T>G, XM_017008845.1:c.1728T>G

Select item 148521328912.

rs1485213289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:20539524 (GRCh38)
4:20541147 (GRCh37)
Canonical SPDI:: NC_000004.12:20539523:A:G,NC_000004.12:20539523:A:T
Gene:: SLIT2 (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)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.20539524A>G, NC_000004.12:g.20539524A>T, NC_000004.11:g.20541147A>G, NC_000004.11:g.20541147A>T, NG_047105.1:g.292600A>G, NG_047105.1:g.292600A>T, NM_004787.4:c.1916A>G, NM_004787.4:c.1916A>T, NM_004787.3:c.1916A>G, NM_004787.3:c.1916A>T, NM_004787.2:c.1916A>G, NM_004787.2:c.1916A>T, NM_004787.1:c.1916A>G, NM_004787.1:c.1916A>T, NM_001289135.3:c.1904A>G, NM_001289135.3:c.1904A>T, NM_001289135.2:c.1904A>G, NM_001289135.2:c.1904A>T, NM_001289135.1:c.1904A>G, NM_001289135.1:c.1904A>T, NM_001289136.3:c.1892A>G, NM_001289136.3:c.1892A>T, NM_001289136.2:c.1892A>G, NM_001289136.2:c.1892A>T, NM_001289136.1:c.1892A>G, NM_001289136.1:c.1892A>T, XM_005248211.3:c.1928A>G, XM_005248211.3:c.1928A>T, XM_005248211.2:c.1928A>G, XM_005248211.2:c.1928A>T, XM_005248211.1:c.1928A>G, XM_005248211.1:c.1928A>T, XM_006713986.3:c.1928A>G, XM_006713986.3:c.1928A>T, XM_006713986.2:c.1928A>G, XM_006713986.2:c.1928A>T, XM_006713986.1:c.1928A>G, XM_006713986.1:c.1928A>T, XM_011513909.3:c.1826A>G, XM_011513909.3:c.1826A>T, XM_011513909.2:c.1826A>G, XM_011513909.2:c.1826A>T, XM_011513909.1:c.1826A>G, XM_011513909.1:c.1826A>T, XM_011513910.2:c.806A>G, XM_011513910.2:c.806A>T, XM_011513910.1:c.644A>G, XM_011513910.1:c.644A>T, XM_017008845.2:c.1814A>G, XM_017008845.2:c.1814A>T, XM_017008845.1:c.1814A>G, XM_017008845.1:c.1814A>T, NP_004778.1:p.Asp639Gly, NP_004778.1:p.Asp639Val, NP_001276064.1:p.Asp635Gly, NP_001276064.1:p.Asp635Val, NP_001276065.1:p.Asp631Gly, NP_001276065.1:p.Asp631Val, XP_005248268.1:p.Asp643Gly, XP_005248268.1:p.Asp643Val, XP_006714049.1:p.Asp643Gly, XP_006714049.1:p.Asp643Val, XP_011512211.1:p.Asp609Gly, XP_011512211.1:p.Asp609Val, XP_011512212.2:p.Asp269Gly, XP_011512212.2:p.Asp269Val, XP_016864334.1:p.Asp605Gly, XP_016864334.1:p.Asp605Val

Select item 148405676813.

rs1484056768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:20568890 (GRCh38)
4:20570513 (GRCh37)
Canonical SPDI:: NC_000004.12:20568889:G:A
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20568890G>A, NC_000004.11:g.20570513G>A, NG_047105.1:g.321966G>A, NM_004787.4:c.2974G>A, NM_004787.3:c.2974G>A, NM_004787.2:c.2974G>A, NM_004787.1:c.2974G>A, NM_001289135.3:c.2962G>A, NM_001289135.2:c.2962G>A, NM_001289135.1:c.2962G>A, NM_001289136.3:c.2950G>A, NM_001289136.2:c.2950G>A, NM_001289136.1:c.2950G>A, XM_005248211.3:c.2986G>A, XM_005248211.2:c.2986G>A, XM_005248211.1:c.2986G>A, XM_006713986.3:c.2914G>A, XM_006713986.2:c.2914G>A, XM_006713986.1:c.2914G>A, XM_011513909.3:c.2884G>A, XM_011513909.2:c.2884G>A, XM_011513909.1:c.2884G>A, XM_011513910.2:c.1864G>A, XM_011513910.1:c.1702G>A, XM_017008845.2:c.2872G>A, XM_017008845.1:c.2872G>A, NP_004778.1:p.Gly992Arg, NP_001276064.1:p.Gly988Arg, NP_001276065.1:p.Gly984Arg, XP_005248268.1:p.Gly996Arg, XP_006714049.1:p.Gly972Arg, XP_011512211.1:p.Gly962Arg, XP_011512212.2:p.Gly622Arg, XP_016864334.1:p.Gly958Arg

Select item 148400244214.

rs1484002442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:20553901 (GRCh38)
4:20555524 (GRCh37)
Canonical SPDI:: NC_000004.12:20553900:T:C
Gene:: SLIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20553901T>C, NC_000004.11:g.20555524T>C, NG_047105.1:g.306977T>C, NM_004787.4:c.2658T>C, NM_004787.3:c.2658T>C, NM_004787.2:c.2658T>C, NM_004787.1:c.2658T>C, NM_001289135.3:c.2646T>C, NM_001289135.2:c.2646T>C, NM_001289135.1:c.2646T>C, NM_001289136.3:c.2634T>C, NM_001289136.2:c.2634T>C, NM_001289136.1:c.2634T>C, XM_005248211.3:c.2670T>C, XM_005248211.2:c.2670T>C, XM_005248211.1:c.2670T>C, XM_006713986.3:c.2598T>C, XM_006713986.2:c.2598T>C, XM_006713986.1:c.2598T>C, XM_011513909.3:c.2568T>C, XM_011513909.2:c.2568T>C, XM_011513909.1:c.2568T>C, XM_011513910.2:c.1548T>C, XM_011513910.1:c.1386T>C, XM_017008845.2:c.2556T>C, XM_017008845.1:c.2556T>C

Select item 148338012715.

rs1483380127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:20618946 (GRCh38)
4:20620569 (GRCh37)
Canonical SPDI:: NC_000004.12:20618945:C:T
Gene:: SLIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20618946C>T, NC_000004.11:g.20620569C>T, NG_047105.1:g.372022C>T, NM_004787.4:c.4527C>T, NM_004787.3:c.4527C>T, NM_004787.2:c.4527C>T, NM_004787.1:c.4527C>T, NM_001289135.3:c.4515C>T, NM_001289135.2:c.4515C>T, NM_001289135.1:c.4515C>T, NM_001289136.3:c.4503C>T, NM_001289136.2:c.4503C>T, NM_001289136.1:c.4503C>T, XM_005248211.3:c.4539C>T, XM_005248211.2:c.4539C>T, XM_005248211.1:c.4539C>T, XM_006713986.3:c.4467C>T, XM_006713986.2:c.4467C>T, XM_006713986.1:c.4467C>T, XM_011513909.3:c.4437C>T, XM_011513909.2:c.4437C>T, XM_011513909.1:c.4437C>T, XM_011513910.2:c.3417C>T, XM_011513910.1:c.3255C>T, XM_017008845.2:c.4425C>T, XM_017008845.1:c.4425C>T

Select item 148149487216.

rs1481494872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:20523903 (GRCh38)
4:20525526 (GRCh37)
Canonical SPDI:: NC_000004.12:20523902:T:C
Gene:: SLIT2 (Varview)
Functional Consequence:: intron_variant,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_000004.12:g.20523903T>C, NC_000004.11:g.20525526T>C, NG_047105.1:g.276979T>C, NM_004787.4:c.1274T>C, NM_004787.3:c.1274T>C, NM_004787.2:c.1274T>C, NM_004787.1:c.1274T>C, NM_001289135.3:c.1286T>C, NM_001289135.2:c.1286T>C, NM_001289135.1:c.1286T>C, NM_001289136.3:c.1274T>C, NM_001289136.2:c.1274T>C, NM_001289136.1:c.1274T>C, XM_005248211.3:c.1286T>C, XM_005248211.2:c.1286T>C, XM_005248211.1:c.1286T>C, XM_006713986.3:c.1286T>C, XM_006713986.2:c.1286T>C, XM_006713986.1:c.1286T>C, XM_011513909.3:c.1184T>C, XM_011513909.2:c.1184T>C, XM_011513909.1:c.1184T>C, XM_017008845.2:c.1172T>C, XM_017008845.1:c.1172T>C, NP_004778.1:p.Met425Thr, NP_001276064.1:p.Met429Thr, NP_001276065.1:p.Met425Thr, XP_005248268.1:p.Met429Thr, XP_006714049.1:p.Met429Thr, XP_011512211.1:p.Met395Thr, XP_016864334.1:p.Met391Thr

Select item 148047994317.

rs1480479943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20539549 (GRCh38)
4:20541172 (GRCh37)
Canonical SPDI:: NC_000004.12:20539548:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20539549A>G, NC_000004.11:g.20541172A>G, NG_047105.1:g.292625A>G, NM_004787.4:c.1941A>G, NM_004787.3:c.1941A>G, NM_004787.2:c.1941A>G, NM_004787.1:c.1941A>G, NM_001289135.3:c.1929A>G, NM_001289135.2:c.1929A>G, NM_001289135.1:c.1929A>G, NM_001289136.3:c.1917A>G, NM_001289136.2:c.1917A>G, NM_001289136.1:c.1917A>G, XM_005248211.3:c.1953A>G, XM_005248211.2:c.1953A>G, XM_005248211.1:c.1953A>G, XM_006713986.3:c.1953A>G, XM_006713986.2:c.1953A>G, XM_006713986.1:c.1953A>G, XM_011513909.3:c.1851A>G, XM_011513909.2:c.1851A>G, XM_011513909.1:c.1851A>G, XM_011513910.2:c.831A>G, XM_011513910.1:c.669A>G, XM_017008845.2:c.1839A>G, XM_017008845.1:c.1839A>G

Select item 148034925218.

rs1480349252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:20616953 (GRCh38)
4:20618576 (GRCh37)
Canonical SPDI:: NC_000004.12:20616952:T:C
Gene:: SLIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.20616953T>C, NC_000004.11:g.20618576T>C, NG_047105.1:g.370029T>C, NM_004787.4:c.3891T>C, NM_004787.3:c.3891T>C, NM_004787.2:c.3891T>C, NM_004787.1:c.3891T>C, NM_001289135.3:c.3879T>C, NM_001289135.2:c.3879T>C, NM_001289135.1:c.3879T>C, NM_001289136.3:c.3867T>C, NM_001289136.2:c.3867T>C, NM_001289136.1:c.3867T>C, XM_005248211.3:c.3903T>C, XM_005248211.2:c.3903T>C, XM_005248211.1:c.3903T>C, XM_006713986.3:c.3831T>C, XM_006713986.2:c.3831T>C, XM_006713986.1:c.3831T>C, XM_011513909.3:c.3801T>C, XM_011513909.2:c.3801T>C, XM_011513909.1:c.3801T>C, XM_011513910.2:c.2781T>C, XM_011513910.1:c.2619T>C, XM_017008845.2:c.3789T>C, XM_017008845.1:c.3789T>C

Select item 147943816119.

rs1479438161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:20511125 (GRCh38)
4:20512748 (GRCh37)
Canonical SPDI:: NC_000004.12:20511124:C:G,NC_000004.12:20511124:C:T
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.20511125C>G, NC_000004.12:g.20511125C>T, NC_000004.11:g.20512748C>G, NC_000004.11:g.20512748C>T, NG_047105.1:g.264201C>G, NG_047105.1:g.264201C>T, NM_004787.4:c.1046C>G, NM_004787.4:c.1046C>T, NM_004787.3:c.1046C>G, NM_004787.3:c.1046C>T, NM_004787.2:c.1046C>G, NM_004787.2:c.1046C>T, NM_004787.1:c.1046C>G, NM_004787.1:c.1046C>T, NM_001289135.3:c.1058C>G, NM_001289135.3:c.1058C>T, NM_001289135.2:c.1058C>G, NM_001289135.2:c.1058C>T, NM_001289135.1:c.1058C>G, NM_001289135.1:c.1058C>T, NM_001289136.3:c.1046C>G, NM_001289136.3:c.1046C>T, NM_001289136.2:c.1046C>G, NM_001289136.2:c.1046C>T, NM_001289136.1:c.1046C>G, NM_001289136.1:c.1046C>T, XM_005248211.3:c.1058C>G, XM_005248211.3:c.1058C>T, XM_005248211.2:c.1058C>G, XM_005248211.2:c.1058C>T, XM_005248211.1:c.1058C>G, XM_005248211.1:c.1058C>T, XM_006713986.3:c.1058C>G, XM_006713986.3:c.1058C>T, XM_006713986.2:c.1058C>G, XM_006713986.2:c.1058C>T, XM_006713986.1:c.1058C>G, XM_006713986.1:c.1058C>T, XM_011513909.3:c.956C>G, XM_011513909.3:c.956C>T, XM_011513909.2:c.956C>G, XM_011513909.2:c.956C>T, XM_011513909.1:c.956C>G, XM_011513909.1:c.956C>T, XM_017008845.2:c.944C>G, XM_017008845.2:c.944C>T, XM_017008845.1:c.944C>G, XM_017008845.1:c.944C>T, NP_004778.1:p.Ser349Cys, NP_004778.1:p.Ser349Phe, NP_001276064.1:p.Ser353Cys, NP_001276064.1:p.Ser353Phe, NP_001276065.1:p.Ser349Cys, NP_001276065.1:p.Ser349Phe, XP_005248268.1:p.Ser353Cys, XP_005248268.1:p.Ser353Phe, XP_006714049.1:p.Ser353Cys, XP_006714049.1:p.Ser353Phe, XP_011512211.1:p.Ser319Cys, XP_011512211.1:p.Ser319Phe, XP_016864334.1:p.Ser315Cys, XP_016864334.1:p.Ser315Phe

Select item 147930805720.

rs1479308057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:20618774 (GRCh38)
4:20620397 (GRCh37)
Canonical SPDI:: NC_000004.12:20618773:C:T
Gene:: SLIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.20618774C>T, NC_000004.11:g.20620397C>T, NG_047105.1:g.371850C>T, NM_004787.4:c.4355C>T, NM_004787.3:c.4355C>T, NM_004787.2:c.4355C>T, NM_004787.1:c.4355C>T, NM_001289135.3:c.4343C>T, NM_001289135.2:c.4343C>T, NM_001289135.1:c.4343C>T, NM_001289136.3:c.4331C>T, NM_001289136.2:c.4331C>T, NM_001289136.1:c.4331C>T, XM_005248211.3:c.4367C>T, XM_005248211.2:c.4367C>T, XM_005248211.1:c.4367C>T, XM_006713986.3:c.4295C>T, XM_006713986.2:c.4295C>T, XM_006713986.1:c.4295C>T, XM_011513909.3:c.4265C>T, XM_011513909.2:c.4265C>T, XM_011513909.1:c.4265C>T, XM_011513910.2:c.3245C>T, XM_011513910.1:c.3083C>T, XM_017008845.2:c.4253C>T, XM_017008845.1:c.4253C>T, NP_004778.1:p.Ser1452Phe, NP_001276064.1:p.Ser1448Phe, NP_001276065.1:p.Ser1444Phe, XP_005248268.1:p.Ser1456Phe, XP_006714049.1:p.Ser1432Phe, XP_011512211.1:p.Ser1422Phe, XP_011512212.2:p.Ser1082Phe, XP_016864334.1:p.Ser1418Phe

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