SNP Links for Gene (Select 55840) - SNP

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Select item 14915173321.

rs1491517332 has merged into rs34826349 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 3:121851360 (GRCh38)
3:121570207 (GRCh37)
Canonical SPDI:: NC_000003.12:121851351:TTTTTTTTTT:TTTTTTTT,NC_000003.12:121851351:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:121851351:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:121851351:TTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:121851351:TTTTTTTTTT:TTTTTTTTTTTTT
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.19711/52173 (TOPMED)
T=0.213458/1069 (1000Genomes)
HGVS:: NC_000003.12:g.121851360_121851361del, NC_000003.12:g.121851361del, NC_000003.12:g.121851361dup, NC_000003.12:g.121851360_121851361dup, NC_000003.12:g.121851359_121851361dup, NC_000003.11:g.121570207_121570208del, NC_000003.11:g.121570208del, NC_000003.11:g.121570208dup, NC_000003.11:g.121570207_121570208dup, NC_000003.11:g.121570206_121570208dup

Select item 14914878312.

rs1491487831 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:121840189 (GRCh38)
3:121559036 (GRCh37)
Canonical SPDI:: NC_000003.12:121840188:GA:
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.121840189_121840190del, NC_000003.11:g.121559036_121559037del

Select item 14911903003.

rs1491190300 has merged into rs56339909 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:121882359 (GRCh38)
3:121601206 (GRCh37)
Canonical SPDI:: NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:121882348:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.132/5 (GENOME_DK)
AA=0.19/110 (NorthernSweden)
HGVS:: NC_000003.12:g.121882359_121882363del, NC_000003.12:g.121882360_121882363del, NC_000003.12:g.121882361_121882363del, NC_000003.12:g.121882362_121882363del, NC_000003.12:g.121882363del, NC_000003.12:g.121882363dup, NC_000003.12:g.121882358_121882363dup, NC_000003.11:g.121601206_121601210del, NC_000003.11:g.121601207_121601210del, NC_000003.11:g.121601208_121601210del, NC_000003.11:g.121601209_121601210del, NC_000003.11:g.121601210del, NC_000003.11:g.121601210dup, NC_000003.11:g.121601205_121601210dup

Select item 14911479754.

rs1491147975 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:121865674 (GRCh38)
3:121584521 (GRCh37)
Canonical SPDI:: NC_000003.12:121865671:ATAT:AT
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.00007/1 (ALFA)
HGVS:: NC_000003.12:g.121865672AT[1], NC_000003.11:g.121584519AT[1]

Select item 14911460375.

rs1491146037 has merged into rs35521886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:121840200 (GRCh38)
3:121559047 (GRCh37)
Canonical SPDI:: NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:121840189:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0.0036/2 (NorthernSweden)
HGVS:: NC_000003.12:g.121840200_121840211del, NC_000003.12:g.121840203_121840211del, NC_000003.12:g.121840204_121840211del, NC_000003.12:g.121840205_121840211del, NC_000003.12:g.121840207_121840211del, NC_000003.12:g.121840208_121840211del, NC_000003.12:g.121840209_121840211del, NC_000003.12:g.121840210_121840211del, NC_000003.12:g.121840211del, NC_000003.12:g.121840211dup, NC_000003.12:g.121840210_121840211dup, NC_000003.12:g.121840209_121840211dup, NC_000003.12:g.121840208_121840211dup, NC_000003.12:g.121840207_121840211dup, NC_000003.12:g.121840206_121840211dup, NC_000003.12:g.121840205_121840211dup, NC_000003.12:g.121840199_121840211dup, NC_000003.11:g.121559047_121559058del, NC_000003.11:g.121559050_121559058del, NC_000003.11:g.121559051_121559058del, NC_000003.11:g.121559052_121559058del, NC_000003.11:g.121559054_121559058del, NC_000003.11:g.121559055_121559058del, NC_000003.11:g.121559056_121559058del, NC_000003.11:g.121559057_121559058del, NC_000003.11:g.121559058del, NC_000003.11:g.121559058dup, NC_000003.11:g.121559057_121559058dup, NC_000003.11:g.121559056_121559058dup, NC_000003.11:g.121559055_121559058dup, NC_000003.11:g.121559054_121559058dup, NC_000003.11:g.121559053_121559058dup, NC_000003.11:g.121559052_121559058dup, NC_000003.11:g.121559046_121559058dup

Select item 14911319046.

rs1491131904 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:121882348 (GRCh38)
3:121601195 (GRCh37)
Canonical SPDI:: NC_000003.12:121882347:CA:
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00438/52 (ALFA)
HGVS:: NC_000003.12:g.121882348_121882349del, NC_000003.11:g.121601195_121601196del

Select item 14909496027.

rs1490949602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:121851567 (GRCh38)
3:121570414 (GRCh37)
Canonical SPDI:: NC_000003.12:121851566:T:C,NC_000003.12:121851566:T:G
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.121851567T>C, NC_000003.12:g.121851567T>G, NC_000003.11:g.121570414T>C, NC_000003.11:g.121570414T>G

Select item 14907415538.

rs1490741553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:121877214 (GRCh38)
3:121596061 (GRCh37)
Canonical SPDI:: NC_000003.12:121877213:T:A,NC_000003.12:121877213:T:C
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121877214T>A, NC_000003.12:g.121877214T>C, NC_000003.11:g.121596061T>A, NC_000003.11:g.121596061T>C

Select item 14907154529.

rs1490715452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:121878323 (GRCh38)
3:121597171 (GRCh37)
Canonical SPDI:: NC_000003.12:121878323:A:AA
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.121878324dup, NC_000003.11:g.121597171dup

Select item 149061477110.

rs1490614771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:121837831 (GRCh38)
3:121556678 (GRCh37)
Canonical SPDI:: NC_000003.12:121837830:T:G
Gene:: EAF2 (Varview)
Functional Consequence:: intron_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_000003.12:g.121837831T>G, NC_000003.11:g.121556678T>G, NG_015887.1:g.2249A>C

Select item 149041538911.

rs1490415389 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:121851479 (GRCh38)
3:121570326 (GRCh37)
Canonical SPDI:: NC_000003.12:121851478:A:
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121851479del, NC_000003.11:g.121570326del

Select item 149040676712.

rs1490406767 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:121845483 (GRCh38)
3:121564330 (GRCh37)
Canonical SPDI:: NC_000003.12:121845482:G:
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00036/6 (TOMMO)
HGVS:: NC_000003.12:g.121845483del, NC_000003.11:g.121564330del

Select item 149036644013.

rs1490366440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:121867342 (GRCh38)
3:121586189 (GRCh37)
Canonical SPDI:: NC_000003.12:121867341:T:C
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121867342T>C, NC_000003.11:g.121586189T>C

Select item 149035309314.

rs1490353093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:121884353 (GRCh38)
3:121603200 (GRCh37)
Canonical SPDI:: NC_000003.12:121884352:A:G
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.121884353A>G, NC_000003.11:g.121603200A>G

Select item 149027312315.

rs1490273123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:121878700 (GRCh38)
3:121597547 (GRCh37)
Canonical SPDI:: NC_000003.12:121878699:A:G
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.121878700A>G, NC_000003.11:g.121597547A>G

Select item 149022859316.

rs1490228593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:121865805 (GRCh38)
3:121584652 (GRCh37)
Canonical SPDI:: NC_000003.12:121865804:C:T
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.121865805C>T, NC_000003.11:g.121584652C>T

Select item 149020246817.

rs1490202468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:121866776 (GRCh38)
3:121585623 (GRCh37)
Canonical SPDI:: NC_000003.12:121866775:G:A
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.121866776G>A, NC_000003.11:g.121585623G>A

Select item 149018132218.

rs1490181322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:121858585 (GRCh38)
3:121577432 (GRCh37)
Canonical SPDI:: NC_000003.12:121858584:G:T
Gene:: EAF2 (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_000003.12:g.121858585G>T, NC_000003.11:g.121577432G>T

Select item 149017967119.

rs1490179671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:121844796 (GRCh38)
3:121563643 (GRCh37)
Canonical SPDI:: NC_000003.12:121844795:A:C
Gene:: EAF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.121844796A>C, NC_000003.11:g.121563643A>C

Select item 149013048320.

rs1490130483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:121833289 (GRCh38)
3:121552136 (GRCh37)
Canonical SPDI:: NC_000003.12:121833288:G:A,NC_000003.12:121833288:G:C
Gene:: IQCB1 (Varview), EAF2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
A=0.00547/10 (Korea1K)
HGVS:: NC_000003.12:g.121833289G>A, NC_000003.12:g.121833289G>C, NC_000003.11:g.121552136G>A, NC_000003.11:g.121552136G>C, NG_015887.1:g.6791C>T, NG_015887.1:g.6791C>G

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