SNP Links for Gene (Select 60528) - SNP

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Select item 14914290011.

rs1491429001 has merged into rs10713763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAA [Show Flanks]
Chromosome:: 17:13007136 (GRCh38)
17:12910453 (GRCh37)
Canonical SPDI:: NC_000017.11:13007124:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:13007124:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:13007124:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:13007124:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.29683/1144 (ALSPAC)
-=0.29962/1111 (TWINSUK)
-=0.3104/185 (NorthernSweden)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000017.11:g.13007136_13007137del, NC_000017.11:g.13007137del, NC_000017.11:g.13007137dup, NC_000017.11:g.13007135_13007137dup, NC_000017.10:g.12910453_12910454del, NC_000017.10:g.12910454del, NC_000017.10:g.12910454dup, NC_000017.10:g.12910452_12910454dup, NG_015808.1:g.15939_15940del, NG_015808.1:g.15940del, NG_015808.1:g.15940dup, NG_015808.1:g.15938_15940dup

Select item 14914043352.

rs1491404335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGT [Show Flanks]
Chromosome:: 17:12991992 (GRCh38)
17:12895310 (GRCh37)
Canonical SPDI:: NC_000017.11:12991992:AAGT:AAGTAAGT
Gene:: ARHGAP44 (Varview), ELAC2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGTAAGT=0./0 (ALFA)
AAGT=0.000045/12 (TOPMED)
AAGT=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.12991993_12991996dup, NC_000017.10:g.12895310_12895313dup, NG_015808.1:g.31069_31072dup, NM_018127.7:c.*822_*825dup, NM_018127.6:c.*822_*825dup, NM_173717.2:c.*822_*825dup, NM_173717.1:c.*822_*825dup, NM_001165962.2:c.*822_*825dup, NM_001165962.1:c.*822_*825dup, XM_024450860.2:c.*822_*825dup, XM_024450860.1:c.*822_*825dup, XM_024450861.2:c.*822_*825dup, XM_024450861.1:c.*822_*825dup

Select item 14913747123.

rs1491374712 [Homo sapiens]

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

Select item 14910937634.

rs1491093763 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:13007125 (GRCh38)
17:12910443 (GRCh37)
Canonical SPDI:: NC_000017.11:13007125::G
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00007/5 (GnomAD)
HGVS:: NC_000017.11:g.13007125_13007126insG, NC_000017.10:g.12910442_12910443insG, NG_015808.1:g.15939_15940insC

Select item 14910028815.

rs1491002881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:13017186 (GRCh38)
17:12920503 (GRCh37)
Canonical SPDI:: NC_000017.11:13017185:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13017186T>C, NC_000017.10:g.12920503T>C, NG_015808.1:g.5879A>G

Select item 14908535886.

rs1490853588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:13015069 (GRCh38)
17:12918386 (GRCh37)
Canonical SPDI:: NC_000017.11:13015068:T:A
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13015069T>A, NC_000017.10:g.12918386T>A, NG_015808.1:g.7996A>T

Select item 14907402377.

rs1490740237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:13002515 (GRCh38)
17:12905832 (GRCh37)
Canonical SPDI:: NC_000017.11:13002514:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.13002515T>C, NC_000017.10:g.12905832T>C, NG_015808.1:g.20550A>G, NM_018127.7:c.1144A>G, NM_018127.6:c.1144A>G, NM_173717.2:c.1144A>G, NM_173717.1:c.1144A>G, NM_001165962.2:c.1024A>G, NM_001165962.1:c.1024A>G, XM_024450860.2:c.862A>G, XM_024450860.1:c.862A>G, XM_024450861.2:c.862A>G, XM_024450861.1:c.862A>G, NP_060597.4:p.Ser382Gly, NP_776065.1:p.Ser382Gly, NP_001159434.1:p.Ser342Gly, XP_024306628.1:p.Ser288Gly, XP_024306629.1:p.Ser288Gly

Select item 14907372738.

rs1490737273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:13014949 (GRCh38)
17:12918266 (GRCh37)
Canonical SPDI:: NC_000017.11:13014948:G:A,NC_000017.11:13014948:G:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000318/5 (TOMMO)
A=0.001711/5 (KOREAN)
HGVS:: NC_000017.11:g.13014949G>A, NC_000017.11:g.13014949G>C, NC_000017.10:g.12918266G>A, NC_000017.10:g.12918266G>C, NG_015808.1:g.8116C>T, NG_015808.1:g.8116C>G

Select item 14907299279.

rs1490729927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:13001643 (GRCh38)
17:12904960 (GRCh37)
Canonical SPDI:: NC_000017.11:13001642:C:T
Gene:: ELAC2 (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.13001643C>T, NC_000017.10:g.12904960C>T, NG_015808.1:g.21422G>A

Select item 149065878110.

rs1490658781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:13000008 (GRCh38)
17:12903325 (GRCh37)
Canonical SPDI:: NC_000017.11:13000007:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/15 (TOPMED)
C=0.000086/12 (GnomAD)
HGVS:: NC_000017.11:g.13000008T>C, NC_000017.10:g.12903325T>C, NG_015808.1:g.23057A>G

Select item 149057869311.

rs1490578693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:13003564 (GRCh38)
17:12906881 (GRCh37)
Canonical SPDI:: NC_000017.11:13003563:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.13003564T>C, NC_000017.10:g.12906881T>C, NG_015808.1:g.19501A>G, NM_018127.7:c.994A>G, NM_018127.6:c.994A>G, NM_173717.2:c.994A>G, NM_173717.1:c.994A>G, NM_001165962.2:c.874A>G, NM_001165962.1:c.874A>G, XM_024450860.2:c.712A>G, XM_024450860.1:c.712A>G, XM_024450861.2:c.712A>G, XM_024450861.1:c.712A>G, NP_060597.4:p.Lys332Glu, NP_776065.1:p.Lys332Glu, NP_001159434.1:p.Lys292Glu, XP_024306628.1:p.Lys238Glu, XP_024306629.1:p.Lys238Glu

Select item 149052524012.

rs1490525240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:13008528 (GRCh38)
17:12911845 (GRCh37)
Canonical SPDI:: NC_000017.11:13008527:G:C,NC_000017.11:13008527:G:T
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13008528G>C, NC_000017.11:g.13008528G>T, NC_000017.10:g.12911845G>C, NC_000017.10:g.12911845G>T, NG_015808.1:g.14537C>G, NG_015808.1:g.14537C>A

Select item 149025722713.

rs1490257227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12994109 (GRCh38)
17:12897426 (GRCh37)
Canonical SPDI:: NC_000017.11:12994108:T:C
Gene:: ELAC2 (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_000017.11:g.12994109T>C, NC_000017.10:g.12897426T>C, NG_015808.1:g.28956A>G

Select item 148982152114.

rs1489821521 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACT>- [Show Flanks]
Chromosome:: 17:13008984 (GRCh38)
17:12912301 (GRCh37)
Canonical SPDI:: NC_000017.11:13008981:CTCACT:CT
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.13008984_13008987del, NC_000017.10:g.12912301_12912304del, NG_015808.1:g.14080_14083del

Select item 148966841415.

rs1489668414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:12995477 (GRCh38)
17:12898794 (GRCh37)
Canonical SPDI:: NC_000017.11:12995476:G:A,NC_000017.11:12995476:G:T
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.12995477G>A, NC_000017.11:g.12995477G>T, NC_000017.10:g.12898794G>A, NC_000017.10:g.12898794G>T, NG_015808.1:g.27588C>T, NG_015808.1:g.27588C>A

Select item 148955887416.

rs1489558874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:12997427 (GRCh38)
17:12900744 (GRCh37)
Canonical SPDI:: NC_000017.11:12997426:G:A,NC_000017.11:12997426:G:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12997427G>A, NC_000017.11:g.12997427G>C, NC_000017.10:g.12900744G>A, NC_000017.10:g.12900744G>C, NG_015808.1:g.25638C>T, NG_015808.1:g.25638C>G

Select item 148955144717.

rs1489551447 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTT>- [Show Flanks]
Chromosome:: 17:12994746 (GRCh38)
17:12898063 (GRCh37)
Canonical SPDI:: NC_000017.11:12994741:GCTTGCTT:GCTT
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCTTGCTT=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12994742GCTT[1], NC_000017.10:g.12898059GCTT[1], NG_015808.1:g.28316AAGC[1]

Select item 148948201018.

rs1489482010 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:13010995 (GRCh38)
17:12914313 (GRCh37)
Canonical SPDI:: NC_000017.11:13010995:T:TT
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.13010996dup, NC_000017.10:g.12914313dup, NG_015808.1:g.12069dup

Select item 148944857519.

rs1489448575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12995832 (GRCh38)
17:12899149 (GRCh37)
Canonical SPDI:: NC_000017.11:12995831:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12995832T>C, NC_000017.10:g.12899149T>C, NG_015808.1:g.27233A>G

Select item 148943658520.

rs1489436585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:13013182 (GRCh38)
17:12916499 (GRCh37)
Canonical SPDI:: NC_000017.11:13013181:T:C
Gene:: ELAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.13013182T>C, NC_000017.10:g.12916499T>C, NG_015808.1:g.9883A>G

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