SNP Links for Nucleotide (Select 1034641841) - SNP

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 14903747283.

rs1490374728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20619458 (GRCh38)
4:20621081 (GRCh37)
Canonical SPDI:: NC_000004.12:20619457:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000004.12:g.20619458A>G, NC_000004.11:g.20621081A>G, NG_047105.1:g.372534A>G, NM_004787.4:c.*449A>G, NM_004787.3:c.*449A>G, NM_004787.2:c.*449A>G, NM_001289135.3:c.*449A>G, NM_001289135.2:c.*449A>G, NM_001289135.1:c.*449A>G, NM_001289136.3:c.*449A>G, NM_001289136.2:c.*449A>G, NM_001289136.1:c.*449A>G, XM_005248211.3:c.*449A>G, XM_005248211.2:c.*449A>G, XM_005248211.1:c.*449A>G, XM_006713986.3:c.*449A>G, XM_006713986.2:c.*449A>G, XM_006713986.1:c.*449A>G, XM_011513909.3:c.*449A>G, XM_011513909.2:c.*449A>G, XM_011513909.1:c.*449A>G, XM_011513910.2:c.*449A>G, XM_011513910.1:c.*449A>G, XM_017008845.2:c.*449A>G, XM_017008845.1:c.*449A>G

Select item 14899374884.

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 14894166865.

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 14893710406.

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 14884664037.

rs1488466403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20252074 (GRCh38)
4:20253697 (GRCh37)
Canonical SPDI:: NC_000004.12:20252073:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000004.12:g.20252074A>G, NC_000004.11:g.20253697A>G, NG_047105.1:g.5150A>G, NM_004787.4:c.-1742A>G, NM_004787.3:c.-1742A>G, NM_001289135.3:c.-1742A>G, NM_001289135.2:c.-1742A>G, NM_001289136.3:c.-1742A>G, NM_001289136.2:c.-1742A>G, XM_005248211.3:c.-1742A>G, XM_005248211.2:c.-1742A>G, XM_006713986.3:c.-1742A>G, XM_006713986.2:c.-1742A>G

Select item 14878874748.

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 14875470209.

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 148750066010.

rs1487500660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:20252326 (GRCh38)
4:20253949 (GRCh37)
Canonical SPDI:: NC_000004.12:20252325:G:T
Gene:: SLIT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.20252326G>T, NC_000004.11:g.20253949G>T, NG_047105.1:g.5402G>T, NM_004787.4:c.-1490G>T, NM_004787.3:c.-1490G>T, NM_001289135.3:c.-1490G>T, NM_001289135.2:c.-1490G>T, NM_001289136.3:c.-1490G>T, NM_001289136.2:c.-1490G>T, XM_005248211.3:c.-1490G>T, XM_005248211.2:c.-1490G>T, XM_006713986.3:c.-1490G>T, XM_006713986.2:c.-1490G>T

Select item 148749958411.

rs1487499584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:20252586 (GRCh38)
4:20254209 (GRCh37)
Canonical SPDI:: NC_000004.12:20252585:G:A
Gene:: SLIT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.20252586G>A, NC_000004.11:g.20254209G>A, NG_047105.1:g.5662G>A, NM_004787.4:c.-1230G>A, NM_004787.3:c.-1230G>A, NM_001289135.3:c.-1230G>A, NM_001289135.2:c.-1230G>A, NM_001289136.3:c.-1230G>A, NM_001289136.2:c.-1230G>A, XM_005248211.3:c.-1230G>A, XM_005248211.2:c.-1230G>A, XM_006713986.3:c.-1230G>A, XM_006713986.2:c.-1230G>A

Select item 148735700312.

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 148717675713.

rs1487176757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:20252958 (GRCh38)
4:20254581 (GRCh37)
Canonical SPDI:: NC_000004.12:20252957:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.20252958A>G, NC_000004.11:g.20254581A>G, NG_047105.1:g.6034A>G, NM_004787.4:c.-858A>G, NM_004787.3:c.-858A>G, NM_001289135.3:c.-858A>G, NM_001289135.2:c.-858A>G, NM_001289136.3:c.-858A>G, NM_001289136.2:c.-858A>G, XM_005248211.3:c.-858A>G, XM_005248211.2:c.-858A>G, XM_005248211.1:c.-858A>G, XM_006713986.3:c.-858A>G, XM_006713986.2:c.-858A>G, XM_006713986.1:c.-858A>G

Select item 148676563514.

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 148659120615.

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 148632932216.

rs1486329322 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 4:20619704 (GRCh38)
4:20621327 (GRCh37)
Canonical SPDI:: NC_000004.12:20619697:ATAAATAAAT:ATAAAT
Gene:: SLIT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAAT=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.20619700AAAT[1], NC_000004.11:g.20621323AAAT[1], NG_047105.1:g.372776AAAT[1], NM_004787.4:c.*691AAAT[1], NM_004787.3:c.*691AAAT[1], NM_004787.2:c.*691AAAT[1], NM_001289135.3:c.*691AAAT[1], NM_001289135.2:c.*691AAAT[1], NM_001289135.1:c.*691AAAT[1], NM_001289136.3:c.*691AAAT[1], NM_001289136.2:c.*691AAAT[1], NM_001289136.1:c.*691AAAT[1], XM_005248211.3:c.*691AAAT[1], XM_005248211.2:c.*691AAAT[1], XM_005248211.1:c.*691AAAT[1], XM_006713986.3:c.*691AAAT[1], XM_006713986.2:c.*691AAAT[1], XM_006713986.1:c.*691AAAT[1], XM_011513909.3:c.*691AAAT[1], XM_011513909.2:c.*691AAAT[1], XM_011513909.1:c.*691AAAT[1], XM_011513910.2:c.*691AAAT[1], XM_011513910.1:c.*691AAAT[1], XM_017008845.2:c.*691AAAT[1], XM_017008845.1:c.*691AAAT[1]

Select item 148559370617.

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 148551972818.

rs1485519728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:20251924 (GRCh38)
4:20253547 (GRCh37)
Canonical SPDI:: NC_000004.12:20251923:G:A
Gene:: SLIT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_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_000004.12:g.20251924G>A, NC_000004.11:g.20253547G>A, NG_047105.1:g.5000G>A, NM_004787.4:c.-1892G>A, NM_004787.3:c.-1892G>A, NM_001289135.3:c.-1892G>A, NM_001289135.2:c.-1892G>A, NM_001289136.3:c.-1892G>A, NM_001289136.2:c.-1892G>A, XM_005248211.3:c.-1892G>A, XM_006713986.3:c.-1892G>A

Select item 148521328919.

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 148429715120.

rs1484297151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:20252273 (GRCh38)
4:20253896 (GRCh37)
Canonical SPDI:: NC_000004.12:20252272:A:C,NC_000004.12:20252272:A:G
Gene:: SLIT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.20252273A>C, NC_000004.12:g.20252273A>G, NC_000004.11:g.20253896A>C, NC_000004.11:g.20253896A>G, NG_047105.1:g.5349A>C, NG_047105.1:g.5349A>G, NM_004787.4:c.-1543A>C, NM_004787.4:c.-1543A>G, NM_004787.3:c.-1543A>C, NM_004787.3:c.-1543A>G, NM_001289135.3:c.-1543A>C, NM_001289135.3:c.-1543A>G, NM_001289135.2:c.-1543A>C, NM_001289135.2:c.-1543A>G, NM_001289136.3:c.-1543A>C, NM_001289136.3:c.-1543A>G, NM_001289136.2:c.-1543A>C, NM_001289136.2:c.-1543A>G, XM_005248211.3:c.-1543A>C, XM_005248211.3:c.-1543A>G, XM_005248211.2:c.-1543A>C, XM_005248211.2:c.-1543A>G, XM_006713986.3:c.-1543A>C, XM_006713986.3:c.-1543A>G, XM_006713986.2:c.-1543A>C, XM_006713986.2:c.-1543A>G

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