SNP Links for Gene (Select 1176) - SNP

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Select item 14915783971.

rs1491578397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG,GAGGGAGG [Show Flanks]
Chromosome:: 5:115868943 (GRCh38)
5:115204641 (GRCh37)
Canonical SPDI:: NC_000005.10:115868943:AGG:AGGGAGG,NC_000005.10:115868943:AGG:AGGGAGGGAGG
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGAGGGAGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.115868946_115868947insGAGG, NC_000005.10:g.115868946_115868947insGAGGGAGG, NC_000005.9:g.115204643_115204644insGAGG, NC_000005.9:g.115204643_115204644insGAGGGAGG

Select item 14915621392.

rs1491562139 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:115870132 (GRCh38)
5:115205829 (GRCh37)
Canonical SPDI:: NC_000005.10:115870131:AG:
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000435/52 (ExAC)
HGVS:: NC_000005.10:g.115870132_115870133del, NC_000005.9:g.115205829_115205830del

Select item 14915506713.

rs1491550671 [Homo sapiens]

Variant type:: SNV:
Alleles:: AA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915306674.

rs1491530667 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:115868947 (GRCh38)
5:115204644 (GRCh37)
Canonical SPDI:: NC_000005.10:115868946:AA:
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0061/26 (ALFA)
-=0.0048/31 (1000Genomes)
-=0.0185/11 (NorthernSweden)
HGVS:: NC_000005.10:g.115868947_115868948del, NC_000005.9:g.115204644_115204645del

Select item 14912212325.

rs1491221232 has merged into rs375213578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC [Show Flanks]
Chromosome:: 5:115911345 (GRCh38)
5:115247042 (GRCh37)
Canonical SPDI:: NC_000005.10:115911334:ACACACACACACACAC:ACACACACAC,NC_000005.10:115911334:ACACACACACACACAC:ACACACACACAC,NC_000005.10:115911334:ACACACACACACACAC:ACACACACACACAC,NC_000005.10:115911334:ACACACACACACACAC:ACACACACACACACACAC
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
AC=0.00301/3 (GoNL)
AC=0.00799/40 (1000Genomes)
AC=0.025/1 (GENOME_DK)
HGVS:: NC_000005.10:g.115911335AC[5], NC_000005.10:g.115911335AC[6], NC_000005.10:g.115911335AC[7], NC_000005.10:g.115911335AC[9], NC_000005.9:g.115247032AC[5], NC_000005.9:g.115247032AC[6], NC_000005.9:g.115247032AC[7], NC_000005.9:g.115247032AC[9]

Select item 14911867056.

rs1491186705 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG,GAGGGAGG,GAGGGAGGGAGG [Show Flanks]
Chromosome:: 5:115868947 (GRCh38)
5:115204645 (GRCh37)
Canonical SPDI:: NC_000005.10:115868947:AGG:AGGGAGG,NC_000005.10:115868947:AGG:AGGGAGGGAGG,NC_000005.10:115868947:AGG:AGGGAGGGAGGGAGG
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGAGGGAGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.115868950_115868951insGAGG, NC_000005.10:g.115868950_115868951insGAGGGAGG, NC_000005.10:g.115868951GAGG[3], NC_000005.9:g.115204647_115204648insGAGG, NC_000005.9:g.115204647_115204648insGAGGGAGG, NC_000005.9:g.115204648GAGG[3]

Select item 14909963697.

rs1490996369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115840712 (GRCh38)
5:115176409 (GRCh37)
Canonical SPDI:: NC_000005.10:115840711:C:A
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.115840712C>A, NC_000005.9:g.115176409C>A

Select item 14909913628.

rs1490991362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115900086 (GRCh38)
5:115235783 (GRCh37)
Canonical SPDI:: NC_000005.10:115900085:A:G
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.115900086A>G, NC_000005.9:g.115235783A>G

Select item 14909715419.

rs1490971541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115852637 (GRCh38)
5:115188334 (GRCh37)
Canonical SPDI:: NC_000005.10:115852636:T:C
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_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_000005.10:g.115852637T>C, NC_000005.9:g.115188334T>C

Select item 149096332010.

rs1490963320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:115867955 (GRCh38)
5:115203652 (GRCh37)
Canonical SPDI:: NC_000005.10:115867954:G:A,NC_000005.10:115867954:G:T
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115867955G>A, NC_000005.10:g.115867955G>T, NC_000005.9:g.115203652G>A, NC_000005.9:g.115203652G>T

Select item 149096327311.

rs1490963273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115902209 (GRCh38)
5:115237906 (GRCh37)
Canonical SPDI:: NC_000005.10:115902208:A:G
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.115902209A>G, NC_000005.9:g.115237906A>G

Select item 149093903712.

rs1490939037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115865872 (GRCh38)
5:115201569 (GRCh37)
Canonical SPDI:: NC_000005.10:115865871:C:T
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115865872C>T, NC_000005.9:g.115201569C>T

Select item 149093575413.

rs1490935754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115888226 (GRCh38)
5:115223923 (GRCh37)
Canonical SPDI:: NC_000005.10:115888225:T:C
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.115888226T>C, NC_000005.9:g.115223923T>C

Select item 149093559614.

rs1490935596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115865486 (GRCh38)
5:115201183 (GRCh37)
Canonical SPDI:: NC_000005.10:115865485:T:C
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.115865486T>C, NC_000005.9:g.115201183T>C

Select item 149085791615.

rs1490857916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115840070 (GRCh38)
5:115175767 (GRCh37)
Canonical SPDI:: NC_000005.10:115840069:C:T
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.115840070C>T, NC_000005.9:g.115175767C>T

Select item 149082074816.

rs1490820748 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:115873012 (GRCh38)
5:115208709 (GRCh37)
Canonical SPDI:: NC_000005.10:115873011:AAA:AA
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115873014del, NC_000005.9:g.115208711del

Select item 149081294017.

rs1490812940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:115850036 (GRCh38)
5:115185733 (GRCh37)
Canonical SPDI:: NC_000005.10:115850035:A:G,NC_000005.10:115850035:A:T
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.115850036A>G, NC_000005.10:g.115850036A>T, NC_000005.9:g.115185733A>G, NC_000005.9:g.115185733A>T

Select item 149072992018.

rs1490729920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115858905 (GRCh38)
5:115194602 (GRCh37)
Canonical SPDI:: NC_000005.10:115858904:A:G
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.115858905A>G, NC_000005.9:g.115194602A>G

Select item 149070499919.

rs1490704999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:115854339 (GRCh38)
5:115190036 (GRCh37)
Canonical SPDI:: NC_000005.10:115854338:G:C
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115854339G>C, NC_000005.9:g.115190036G>C

Select item 149068408720.

rs1490684087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:115881756 (GRCh38)
5:115217453 (GRCh37)
Canonical SPDI:: NC_000005.10:115881755:G:A,NC_000005.10:115881755:G:T
Gene:: AP3S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.115881756G>A, NC_000005.10:g.115881756G>T, NC_000005.9:g.115217453G>A, NC_000005.9:g.115217453G>T

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