SNP Links for Gene (Select 23746) - SNP

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Select item 14915629371.

rs1491562937 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 17:6425308 (GRCh38)
17:6328629 (GRCh37)
Canonical SPDI:: NC_000017.11:6425308:T:TGT
Gene:: AIPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000015/4 (TOPMED)
TG=0.00009/2 (GnomAD)
HGVS:: NC_000017.11:g.6425309_6425310insGT, NC_000017.10:g.6328629_6328630insGT, NG_008474.1:g.14891_14892insCA, NM_014336.5:c.*151_*152insCA, NM_014336.4:c.*151_*152insCA, NM_014336.3:c.*151_*152insCA, NM_001285403.4:c.*1277_*1278insCA, NM_001285403.3:c.*1277_*1278insCA, NM_001285399.3:c.*151_*152insCA, NM_001285399.2:c.*151_*152insCA, NM_001285399.1:c.*151_*152insCA, NM_001285400.3:c.*151_*152insCA, NM_001285400.2:c.*151_*152insCA, NM_001285400.1:c.*151_*152insCA, NM_001285401.3:c.*151_*152insCA, NM_001285401.2:c.*151_*152insCA, NM_001285401.1:c.*151_*152insCA, NM_001033055.3:c.*151_*152insCA, NM_001033055.2:c.*151_*152insCA, NM_001033055.1:c.*151_*152insCA, NM_001033054.3:c.*151_*152insCA, NM_001033054.2:c.*151_*152insCA, NM_001033054.1:c.*151_*152insCA, NM_001285402.2:c.*151_*152insCA, NM_001285402.1:c.*151_*152insCA

Select item 14915111692.

rs1491511169 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:6429820 (GRCh38)
17:6333140 (GRCh37)
Canonical SPDI:: NC_000017.11:6429819:GT:
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00457/65 (TOMMO)
-=0.01186/489 (GnomAD)
HGVS:: NC_000017.11:g.6429820_6429821del, NC_000017.10:g.6333140_6333141del, NG_008474.1:g.10379_10380del

Select item 14914644353.

rs1491464435 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:6429816 (GRCh38)
17:6333136 (GRCh37)
Canonical SPDI:: NC_000017.11:6429815:GT:
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00011/10 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.6429816_6429817del, NC_000017.10:g.6333136_6333137del, NG_008474.1:g.10383_10384del

Select item 14914505584.

rs1491450558 has merged into rs1320708880 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 17:6430044 (GRCh38)
17:6333364 (GRCh37)
Canonical SPDI:: NC_000017.11:6430041:GGGG:GG,NC_000017.11:6430041:GGGG:GGGGGG
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000026/3 (GnomAD)
GG=0.000299/5 (TOMMO)
HGVS:: NC_000017.11:g.6430044_6430045del, NC_000017.11:g.6430044_6430045dup, NC_000017.10:g.6333364_6333365del, NC_000017.10:g.6333364_6333365dup, NG_008474.1:g.10157_10158del, NG_008474.1:g.10157_10158dup

Select item 14914228285.

rs1491422828 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAG,ATAGATAG [Show Flanks]
Chromosome:: 17:6429820 (GRCh38)
17:6333141 (GRCh37)
Canonical SPDI:: NC_000017.11:6429820:TAG:TAGATAG,NC_000017.11:6429820:TAG:TAGATAGATAG
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAGATAGATAG=0./0 (ALFA)
HGVS:: NC_000017.11:g.6429823_6429824insATAG, NC_000017.11:g.6429823_6429824insATAGATAG, NC_000017.10:g.6333143_6333144insATAG, NC_000017.10:g.6333143_6333144insATAGATAG, NG_008474.1:g.10379_10380insTCTA, NG_008474.1:g.10379_10380insTCTATCTA

Select item 14914039166.

rs1491403916 has merged into rs371687670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 17:6432648 (GRCh38)
17:6335968 (GRCh37)
Canonical SPDI:: NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:6432636:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.172/315 (1000Genomes)
-=0.4341/1673 (ALSPAC)
-=0.4372/1621 (TWINSUK)
HGVS:: NC_000017.11:g.6432648_6432649del, NC_000017.11:g.6432649del, NC_000017.11:g.6432649dup, NC_000017.11:g.6432648_6432649dup, NC_000017.11:g.6432647_6432649dup, NC_000017.11:g.6432644_6432649dup, NC_000017.10:g.6335968_6335969del, NC_000017.10:g.6335969del, NC_000017.10:g.6335969dup, NC_000017.10:g.6335968_6335969dup, NC_000017.10:g.6335967_6335969dup, NC_000017.10:g.6335964_6335969dup, NG_008474.1:g.7562_7563del, NG_008474.1:g.7563del, NG_008474.1:g.7563dup, NG_008474.1:g.7562_7563dup, NG_008474.1:g.7561_7563dup, NG_008474.1:g.7558_7563dup

Select item 14911164477.

rs1491116447 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:6430041 (GRCh38)
17:6333361 (GRCh37)
Canonical SPDI:: NC_000017.11:6430040:AG:
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6430041_6430042del, NC_000017.10:g.6333361_6333362del, NG_008474.1:g.10158_10159del

Select item 14909776848.

rs1490977684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6431450 (GRCh38)
17:6334770 (GRCh37)
Canonical SPDI:: NC_000017.11:6431449:C:T
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_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_000017.11:g.6431450C>T, NC_000017.10:g.6334770C>T, NG_008474.1:g.8750G>A

Select item 14909265319.

rs1490926531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: 17:6430467 (GRCh38)
17:6333788 (GRCh37)
Canonical SPDI:: NC_000017.11:6430467:AAA:AAACAAA
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAACAAA=0./0 (ALFA)
AAAC=0.00016/22 (GnomAD)
HGVS:: NC_000017.11:g.6430470_6430471insCAAA, NC_000017.10:g.6333790_6333791insCAAA, NG_008474.1:g.9732_9733insGTTT

Select item 149073288510.

rs1490732885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:6436481 (GRCh38)
17:6339801 (GRCh37)
Canonical SPDI:: NC_000017.11:6436480:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000017.11:g.6436481G>T, NC_000017.10:g.6339801G>T, NG_008474.1:g.3719C>A

Select item 149052608311.

rs1490526083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6424953 (GRCh38)
17:6328273 (GRCh37)
Canonical SPDI:: NC_000017.11:6424952:T:C
Gene:: AIPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,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_000017.11:g.6424953T>C, NC_000017.10:g.6328273T>C, NG_008474.1:g.15247A>G, NM_014336.5:c.*507A>G, NM_014336.4:c.*507A>G, NM_014336.3:c.*507A>G, NM_001285399.3:c.*507A>G, NM_001285399.2:c.*507A>G, NM_001285399.1:c.*507A>G, NM_001285400.3:c.*507A>G, NM_001285400.2:c.*507A>G, NM_001285400.1:c.*507A>G, NM_001285401.3:c.*507A>G, NM_001285401.2:c.*507A>G, NM_001285401.1:c.*507A>G, NM_001033055.3:c.*507A>G, NM_001033055.2:c.*507A>G, NM_001033055.1:c.*507A>G, NM_001033054.3:c.*507A>G, NM_001033054.2:c.*507A>G, NM_001033054.1:c.*507A>G, NM_001285402.2:c.*507A>G, NM_001285402.1:c.*507A>G

Select item 149034916812.

rs1490349168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6424401 (GRCh38)
17:6327721 (GRCh37)
Canonical SPDI:: NC_000017.11:6424400:T:C
Gene:: AIPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6424401T>C, NC_000017.10:g.6327721T>C, NG_008474.1:g.15799A>G, NM_014336.5:c.*1059A>G, NM_014336.4:c.*1059A>G, NM_014336.3:c.*1059A>G, NM_001285399.3:c.*1059A>G, NM_001285399.2:c.*1059A>G, NM_001285399.1:c.*1059A>G, NM_001285400.3:c.*1059A>G, NM_001285400.2:c.*1059A>G, NM_001285400.1:c.*1059A>G, NM_001285401.3:c.*1059A>G, NM_001285401.2:c.*1059A>G, NM_001285401.1:c.*1059A>G, NM_001033055.3:c.*1059A>G, NM_001033055.2:c.*1059A>G, NM_001033055.1:c.*1059A>G, NM_001033054.3:c.*1059A>G, NM_001033054.2:c.*1059A>G, NM_001033054.1:c.*1059A>G, NM_001285402.2:c.*1059A>G, NM_001285402.1:c.*1059A>G

Select item 149015108913.

rs1490151089 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATCAGGCCCT>- [Show Flanks]
Chromosome:: 17:6431928 (GRCh38)
17:6335248 (GRCh37)
Canonical SPDI:: NC_000017.11:6431925:CTTATCAGGCCCT:CT
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6431928_6431938del, NC_000017.10:g.6335248_6335258del, NG_008474.1:g.8264_8274del

Select item 149014555014.

rs1490145550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6430861 (GRCh38)
17:6334181 (GRCh37)
Canonical SPDI:: NC_000017.11:6430860:A:G
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6430861A>G, NC_000017.10:g.6334181A>G, NG_008474.1:g.9339T>C

Select item 148962032215.

rs1489620322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:6425309 (GRCh38)
17:6328629 (GRCh37)
Canonical SPDI:: NC_000017.11:6425308:T:C,NC_000017.11:6425308:T:G
Gene:: AIPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
C=0.000093/4 (GnomAD)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.6425309T>C, NC_000017.11:g.6425309T>G, NC_000017.10:g.6328629T>C, NC_000017.10:g.6328629T>G, NG_008474.1:g.14891A>G, NG_008474.1:g.14891A>C, NM_014336.5:c.*151A>G, NM_014336.5:c.*151A>C, NM_014336.4:c.*151A>G, NM_014336.4:c.*151A>C, NM_014336.3:c.*151A>G, NM_014336.3:c.*151A>C, NM_001285403.4:c.*1277A>G, NM_001285403.4:c.*1277A>C, NM_001285403.3:c.*1277A>G, NM_001285403.3:c.*1277A>C, NM_001285399.3:c.*151A>G, NM_001285399.3:c.*151A>C, NM_001285399.2:c.*151A>G, NM_001285399.2:c.*151A>C, NM_001285399.1:c.*151A>G, NM_001285399.1:c.*151A>C, NM_001285400.3:c.*151A>G, NM_001285400.3:c.*151A>C, NM_001285400.2:c.*151A>G, NM_001285400.2:c.*151A>C, NM_001285400.1:c.*151A>G, NM_001285400.1:c.*151A>C, NM_001285401.3:c.*151A>G, NM_001285401.3:c.*151A>C, NM_001285401.2:c.*151A>G, NM_001285401.2:c.*151A>C, NM_001285401.1:c.*151A>G, NM_001285401.1:c.*151A>C, NM_001033055.3:c.*151A>G, NM_001033055.3:c.*151A>C, NM_001033055.2:c.*151A>G, NM_001033055.2:c.*151A>C, NM_001033055.1:c.*151A>G, NM_001033055.1:c.*151A>C, NM_001033054.3:c.*151A>G, NM_001033054.3:c.*151A>C, NM_001033054.2:c.*151A>G, NM_001033054.2:c.*151A>C, NM_001033054.1:c.*151A>G, NM_001033054.1:c.*151A>C, NM_001285402.2:c.*151A>G, NM_001285402.2:c.*151A>C, NM_001285402.1:c.*151A>G, NM_001285402.1:c.*151A>C

Select item 148959956716.

rs1489599567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6425499 (GRCh38)
17:6328819 (GRCh37)
Canonical SPDI:: NC_000017.11:6425498:T:C
Gene:: AIPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6425499T>C, NC_000017.10:g.6328819T>C, NG_008474.1:g.14701A>G, NM_014336.5:c.1116A>G, NM_014336.4:c.1116A>G, NM_014336.3:c.1116A>G, NM_001285403.4:c.*1087A>G, NM_001285403.3:c.*1087A>G, NM_001285399.3:c.1080A>G, NM_001285399.2:c.1080A>G, NM_001285399.1:c.1080A>G, NM_001285400.3:c.1050A>G, NM_001285400.2:c.1050A>G, NM_001285400.1:c.1050A>G, NM_001285401.3:c.1044A>G, NM_001285401.2:c.1044A>G, NM_001285401.1:c.1044A>G, NM_001033055.3:c.936A>G, NM_001033055.2:c.936A>G, NM_001033055.1:c.936A>G, NM_001033054.3:c.927A>G, NM_001033054.2:c.927A>G, NM_001033054.1:c.927A>G, NM_001285402.2:c.999A>G, NM_001285402.1:c.999A>G

Select item 148882623817.

rs1488826238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6423247 (GRCh38)
17:6326567 (GRCh37)
Canonical SPDI:: NC_000017.11:6423246:G:A
Gene:: AIPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.6423247G>A, NC_000017.10:g.6326567G>A, NG_008474.1:g.16953C>T

Select item 148876750218.

rs1488767502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:6435370 (GRCh38)
17:6338690 (GRCh37)
Canonical SPDI:: NC_000017.11:6435369:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6435370G>T, NC_000017.10:g.6338690G>T, NG_008474.1:g.4830C>A

Select item 148859289519.

rs1488592895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCACACAC>- [Show Flanks]
Chromosome:: 17:6433609 (GRCh38)
17:6336929 (GRCh37)
Canonical SPDI:: NC_000017.11:6433607:CTCTCACACAC:C
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000034/4 (GnomAD)
HGVS:: NC_000017.11:g.6433609_6433618del, NC_000017.10:g.6336929_6336938del, NG_008474.1:g.6583_6592del

Select item 148858519820.

rs1488585198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGG [Show Flanks]
Chromosome:: 17:6425573 (GRCh38)
17:6328894 (GRCh37)
Canonical SPDI:: NC_000017.11:6425573:GGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGG:GGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGG
Gene:: AIPL1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.6425576_6425611dup, NC_000017.10:g.6328896_6328931dup, NG_008474.1:g.14591_14626dup, NM_014336.5:c.1006_1041dup, NM_014336.4:c.1006_1041dup, NM_014336.3:c.1006_1041dup, NM_001285403.4:c.*977_*1012dup, NM_001285403.3:c.*977_*1012dup, NM_001285399.3:c.970_1005dup, NM_001285399.2:c.970_1005dup, NM_001285399.1:c.970_1005dup, NM_001285400.3:c.940_975dup, NM_001285400.2:c.940_975dup, NM_001285400.1:c.940_975dup, NM_001285401.3:c.934_969dup, NM_001285401.2:c.934_969dup, NM_001285401.1:c.934_969dup, NM_001033055.3:c.826_861dup, NM_001033055.2:c.826_861dup, NM_001033055.1:c.826_861dup, NM_001033054.3:c.817_852dup, NM_001033054.2:c.817_852dup, NM_001033054.1:c.817_852dup, NM_001285402.2:c.889_924dup, NM_001285402.1:c.889_924dup, NP_055151.3:p.Ala336_Ser347dup, NP_001272328.1:p.Ala324_Ser335dup, NP_001272329.1:p.Ala314_Ser325dup, NP_001272330.1:p.Ala312_Ser323dup, NP_001028227.1:p.Ala276_Ser287dup, NP_001028226.1:p.Ala273_Ser284dup, NP_001272331.1:p.Ala297_Ser308dup

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