SNP Links for Gene (Select 83464) - SNP

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Select item 14915682201.

rs1491568220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:63302829 (GRCh38)
15:63595029 (GRCh37)
Canonical SPDI:: NC_000015.10:63302829:T:TT
Gene:: APH1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.63302830dup, NC_000015.9:g.63595029dup, XM_011522105.4:c.*5dup, XM_011522105.3:c.*5dup, XM_011522105.2:c.*5dup, XM_011522105.1:c.*5dup, XR_007064490.1:n.732dup

Select item 14915199592.

rs1491519959 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 15:63277013 (GRCh38)
15:63569213 (GRCh37)
Canonical SPDI:: NC_000015.10:63277013::C,NC_000015.10:63277013::G
Gene:: APH1B (Varview), LOC124903504 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.002583/43 (TOMMO)
HGVS:: NC_000015.10:g.63277013_63277014insC, NC_000015.10:g.63277013_63277014insG, NC_000015.9:g.63569212_63569213insC, NC_000015.9:g.63569212_63569213insG

Select item 14913352283.

rs1491335228 has merged into rs58991721 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:63281541 (GRCh38)
15:63573740 (GRCh37)
Canonical SPDI:: NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63281534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.117281/452 (ALSPAC)
-=0.346246/1734 (1000Genomes)
HGVS:: NC_000015.10:g.63281541_63281551del, NC_000015.10:g.63281542_63281551del, NC_000015.10:g.63281543_63281551del, NC_000015.10:g.63281547_63281551del, NC_000015.10:g.63281549_63281551del, NC_000015.10:g.63281550_63281551del, NC_000015.10:g.63281551del, NC_000015.10:g.63281551dup, NC_000015.10:g.63281550_63281551dup, NC_000015.10:g.63281549_63281551dup, NC_000015.10:g.63281542_63281551dup, NC_000015.10:g.63281540_63281551dup, NC_000015.10:g.63281539_63281551dup, NC_000015.10:g.63281535_63281551dup, NC_000015.9:g.63573740_63573750del, NC_000015.9:g.63573741_63573750del, NC_000015.9:g.63573742_63573750del, NC_000015.9:g.63573746_63573750del, NC_000015.9:g.63573748_63573750del, NC_000015.9:g.63573749_63573750del, NC_000015.9:g.63573750del, NC_000015.9:g.63573750dup, NC_000015.9:g.63573749_63573750dup, NC_000015.9:g.63573748_63573750dup, NC_000015.9:g.63573741_63573750dup, NC_000015.9:g.63573739_63573750dup, NC_000015.9:g.63573738_63573750dup, NC_000015.9:g.63573734_63573750dup

Select item 14912848754.

rs1491284875 has merged into rs11359006 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 15:63278255 (GRCh38)
15:63570454 (GRCh37)
Canonical SPDI:: NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63278242:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: APH1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.002161/34 (ALFA)
-=0.000008/2 (TOPMED)
-=0.258952/998 (ALSPAC)
HGVS:: NC_000015.10:g.63278255_63278257del, NC_000015.10:g.63278256_63278257del, NC_000015.10:g.63278257del, NC_000015.10:g.63278257dup, NC_000015.10:g.63278256_63278257dup, NC_000015.10:g.63278255_63278257dup, NC_000015.9:g.63570454_63570456del, NC_000015.9:g.63570455_63570456del, NC_000015.9:g.63570456del, NC_000015.9:g.63570456dup, NC_000015.9:g.63570455_63570456dup, NC_000015.9:g.63570454_63570456dup

Select item 14911773515.

rs1491177351 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:63281534 (GRCh38)
15:63573733 (GRCh37)
Canonical SPDI:: NC_000015.10:63281533:GA:
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00177/29 (TOMMO)
HGVS:: NC_000015.10:g.63281534_63281535del, NC_000015.9:g.63573733_63573734del

Select item 14911138416.

rs1491113841 has merged into rs113837395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 15:63303889 (GRCh38)
15:63596088 (GRCh37)
Canonical SPDI:: NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000015.10:63303874:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
AC=0.3988/1997 (1000Genomes)
HGVS:: NC_000015.10:g.63303875AC[7], NC_000015.10:g.63303875AC[8], NC_000015.10:g.63303875AC[9], NC_000015.10:g.63303875AC[10], NC_000015.10:g.63303875AC[11], NC_000015.10:g.63303875AC[12], NC_000015.10:g.63303875AC[13], NC_000015.10:g.63303875AC[14], NC_000015.10:g.63303875AC[15], NC_000015.10:g.63303875AC[16], NC_000015.10:g.63303875AC[18], NC_000015.10:g.63303875AC[19], NC_000015.10:g.63303875AC[20], NC_000015.10:g.63303875AC[21], NC_000015.10:g.63303875AC[22], NC_000015.10:g.63303875AC[23], NC_000015.10:g.63303875AC[24], NC_000015.10:g.63303875AC[25], NC_000015.9:g.63596074AC[7], NC_000015.9:g.63596074AC[8], NC_000015.9:g.63596074AC[9], NC_000015.9:g.63596074AC[10], NC_000015.9:g.63596074AC[11], NC_000015.9:g.63596074AC[12], NC_000015.9:g.63596074AC[13], NC_000015.9:g.63596074AC[14], NC_000015.9:g.63596074AC[15], NC_000015.9:g.63596074AC[16], NC_000015.9:g.63596074AC[18], NC_000015.9:g.63596074AC[19], NC_000015.9:g.63596074AC[20], NC_000015.9:g.63596074AC[21], NC_000015.9:g.63596074AC[22], NC_000015.9:g.63596074AC[23], NC_000015.9:g.63596074AC[24], NC_000015.9:g.63596074AC[25]

Select item 14911131287.

rs1491113128 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:63302829 (GRCh38)
15:63595028 (GRCh37)
Canonical SPDI:: NC_000015.10:63302828:AT:
Gene:: APH1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.63302829_63302830del, NC_000015.9:g.63595028_63595029del, XM_011522105.4:c.*4_*5del, XM_011522105.3:c.*4_*5del, XM_011522105.2:c.*4_*5del, XM_011522105.1:c.*4_*5del, XR_007064490.1:n.731_732del

Select item 14909814788.

rs1490981478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:63298897 (GRCh38)
15:63591096 (GRCh37)
Canonical SPDI:: NC_000015.10:63298896:T:A
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.63298897T>A, NC_000015.9:g.63591096T>A

Select item 14909238079.

rs1490923807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:63279787 (GRCh38)
15:63571986 (GRCh37)
Canonical SPDI:: NC_000015.10:63279786:A:C
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.63279787A>C, NC_000015.9:g.63571986A>C

Select item 149084828110.

rs1490848281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63297937 (GRCh38)
15:63590136 (GRCh37)
Canonical SPDI:: NC_000015.10:63297936:C:T
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.63297937C>T, NC_000015.9:g.63590136C>T

Select item 149083291511.

rs1490832915 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 15:63289637 (GRCh38)
15:63581836 (GRCh37)
Canonical SPDI:: NC_000015.10:63289636:C:
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63289637del, NC_000015.9:g.63581836del

Select item 149077644512.

rs1490776445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63290842 (GRCh38)
15:63583041 (GRCh37)
Canonical SPDI:: NC_000015.10:63290841:C:T
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.63290842C>T, NC_000015.9:g.63583041C>T

Select item 149063254113.

rs1490632541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:63281702 (GRCh38)
15:63573901 (GRCh37)
Canonical SPDI:: NC_000015.10:63281701:G:A
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63281702G>A, NC_000015.9:g.63573901G>A

Select item 149056452914.

rs1490564529 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:63305882 (GRCh38)
15:63598081 (GRCh37)
Canonical SPDI:: NC_000015.10:63305880:AGA:A
Gene:: APH1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000053/14 (TOPMED)
-=0.001203/20 (TOMMO)
-=0.004367/8 (Korea1K)
HGVS:: NC_000015.10:g.63305882_63305883del, NC_000015.9:g.63598081_63598082del, NM_031301.4:c.*101_*102del, NM_031301.3:c.*101_*102del, XM_024450085.2:c.*101_*102del, XM_024450085.1:c.*101_*102del, NM_001145646.2:c.*101_*102del, NM_001145646.1:c.*101_*102del

Select item 149055982915.

rs1490559829 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:63297238 (GRCh38)
15:63589437 (GRCh37)
Canonical SPDI:: NC_000015.10:63297237:G:
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.63297238del, NC_000015.9:g.63589437del

Select item 149053342316.

rs1490533423 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:63306864 (GRCh38)
15:63599063 (GRCh37)
Canonical SPDI:: NC_000015.10:63306863:A:
Gene:: APH1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.63306864del, NC_000015.9:g.63599063del, NM_031301.4:c.*1083del, NM_031301.3:c.*1083del, XM_024450085.2:c.*1083del, XM_024450085.1:c.*1083del, NM_001145646.2:c.*1083del, NM_001145646.1:c.*1083del

Select item 149035917017.

rs1490359170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:63282635 (GRCh38)
15:63574834 (GRCh37)
Canonical SPDI:: NC_000015.10:63282634:A:C
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.63282635A>C, NC_000015.9:g.63574834A>C

Select item 149025610418.

rs1490256104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:63301618 (GRCh38)
15:63593817 (GRCh37)
Canonical SPDI:: NC_000015.10:63301617:G:A,NC_000015.10:63301617:G:T
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00243/45 (ALFA)
A=0.000053/14 (TOPMED)
A=0.000067/9 (GnomAD)
HGVS:: NC_000015.10:g.63301618G>A, NC_000015.10:g.63301618G>T, NC_000015.9:g.63593817G>A, NC_000015.9:g.63593817G>T

Select item 149017712119.

rs1490177121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:63282841 (GRCh38)
15:63575040 (GRCh37)
Canonical SPDI:: NC_000015.10:63282840:C:T
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.63282841C>T, NC_000015.9:g.63575040C>T

Select item 149002474520.

rs1490024745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:63297462 (GRCh38)
15:63589661 (GRCh37)
Canonical SPDI:: NC_000015.10:63297461:G:C
Gene:: APH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.63297462G>C, NC_000015.9:g.63589661G>C

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