SNP Links for Gene (Select 654322) - SNP

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Select item 14915295771.

rs1491529577 [Homo sapiens]

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

Select item 14913907412.

rs1491390741 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:112159901 (GRCh38)
5:111495598 (GRCh37)
Canonical SPDI:: NC_000005.10:112159900:CT:
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.112159901_112159902del, NC_000005.9:g.111495598_111495599del, NG_052950.1:g.264415_264416del

Select item 14913133703.

rs1491313370 has merged into rs540095907 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:112159913 (GRCh38)
5:111495610 (GRCh37)
Canonical SPDI:: NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112159901:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000053/14 (TOPMED)
-=0.02349/14 (NorthernSweden)
-=0.275/11 (GENOME_DK)
-=0.285543/1430 (1000Genomes)
HGVS:: NC_000005.10:g.112159913_112159919del, NC_000005.10:g.112159914_112159919del, NC_000005.10:g.112159915_112159919del, NC_000005.10:g.112159916_112159919del, NC_000005.10:g.112159917_112159919del, NC_000005.10:g.112159918_112159919del, NC_000005.10:g.112159919del, NC_000005.10:g.112159919dup, NC_000005.10:g.112159918_112159919dup, NC_000005.10:g.112159917_112159919dup, NC_000005.10:g.112159914_112159919dup, NC_000005.9:g.111495610_111495616del, NC_000005.9:g.111495611_111495616del, NC_000005.9:g.111495612_111495616del, NC_000005.9:g.111495613_111495616del, NC_000005.9:g.111495614_111495616del, NC_000005.9:g.111495615_111495616del, NC_000005.9:g.111495616del, NC_000005.9:g.111495616dup, NC_000005.9:g.111495615_111495616dup, NC_000005.9:g.111495614_111495616dup, NC_000005.9:g.111495611_111495616dup, NG_052950.1:g.264409_264415del, NG_052950.1:g.264410_264415del, NG_052950.1:g.264411_264415del, NG_052950.1:g.264412_264415del, NG_052950.1:g.264413_264415del, NG_052950.1:g.264414_264415del, NG_052950.1:g.264415del, NG_052950.1:g.264415dup, NG_052950.1:g.264414_264415dup, NG_052950.1:g.264413_264415dup, NG_052950.1:g.264410_264415dup

Select item 14912907474.

rs1491290747 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:112159900 (GRCh38)
5:111495597 (GRCh37)
Canonical SPDI:: NC_000005.10:112159899:AC:
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0./0 (Korea1K)
HGVS:: NC_000005.10:g.112159900_112159901del, NC_000005.9:g.111495597_111495598del, NG_052950.1:g.264416_264417del

Select item 14903421925.

rs1490342192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:112161255 (GRCh38)
5:111496952 (GRCh37)
Canonical SPDI:: NC_000005.10:112161254:C:A,NC_000005.10:112161254:C:G
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.112161255C>A, NC_000005.10:g.112161255C>G, NC_000005.9:g.111496952C>A, NC_000005.9:g.111496952C>G, NG_052950.1:g.263062G>T, NG_052950.1:g.263062G>C, NG_083790.1:g.963C>A, NG_083790.1:g.963C>G, NR_015370.2:n.730C>A, NR_015370.2:n.730C>G, NM_053000.1:c.*111C>A, NM_053000.1:c.*111C>G

Select item 14897720536.

rs1489772053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:112161376 (GRCh38)
5:111497073 (GRCh37)
Canonical SPDI:: NC_000005.10:112161375:A:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_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_000005.10:g.112161376A>T, NC_000005.9:g.111497073A>T, NG_052950.1:g.262941T>A, NG_083790.1:g.1084A>T

Select item 14880716147.

rs1488071614 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATCGAC>- [Show Flanks]
Chromosome:: 5:112161112 (GRCh38)
5:111496809 (GRCh37)
Canonical SPDI:: NC_000005.10:112161109:ACATCATCGAC:AC
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.112161112_112161120del, NC_000005.9:g.111496809_111496817del, NG_052950.1:g.263199_263207del, NG_083790.1:g.820_828del, NR_015370.2:n.587_595del, NM_053000.1:c.331_339del

Select item 14874501588.

rs1487450158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:112161453 (GRCh38)
5:111497150 (GRCh37)
Canonical SPDI:: NC_000005.10:112161452:C:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000018/4 (GnomAD_exomes)
HGVS:: NC_000005.10:g.112161453C>T, NC_000005.9:g.111497150C>T, NG_052950.1:g.262864G>A, NG_083790.1:g.1161C>T

Select item 14867323259.

rs1486732325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:112161949 (GRCh38)
5:111497646 (GRCh37)
Canonical SPDI:: NC_000005.10:112161948:G:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.112161949G>T, NC_000005.9:g.111497646G>T, NG_052950.1:g.262368C>A

Select item 148646743310.

rs1486467433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112161618 (GRCh38)
5:111497315 (GRCh37)
Canonical SPDI:: NC_000005.10:112161617:G:A
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.112161618G>A, NC_000005.9:g.111497315G>A, NG_052950.1:g.262699C>T, NG_083790.1:g.1326G>A

Select item 148368761211.

rs1483687612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:112161225 (GRCh38)
5:111496923 (GRCh37)
Canonical SPDI:: NC_000005.10:112161225:AAAA:AAAAA
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.112161229dup, NC_000005.9:g.111496926dup, NG_052950.1:g.263091dup, NG_083790.1:g.937dup, NR_015370.2:n.704dup, NM_053000.1:c.*85dup

Select item 148300630012.

rs1483006300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112161900 (GRCh38)
5:111497597 (GRCh37)
Canonical SPDI:: NC_000005.10:112161899:T:C
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_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.112161900T>C, NC_000005.9:g.111497597T>C, NG_052950.1:g.262417A>G

Select item 148191685513.

rs1481916855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112159893 (GRCh38)
5:111495590 (GRCh37)
Canonical SPDI:: NC_000005.10:112159892:T:C
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_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.112159893T>C, NC_000005.9:g.111495590T>C, NG_052950.1:g.264424A>G

Select item 148151426614.

rs1481514266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:112160322 (GRCh38)
5:111496019 (GRCh37)
Canonical SPDI:: NC_000005.10:112160321:G:C
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.112160322G>C, NC_000005.9:g.111496019G>C, NG_052950.1:g.263995C>G, NG_083790.1:g.30G>C

Select item 148137908715.

rs1481379087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:112161649 (GRCh38)
5:111497346 (GRCh37)
Canonical SPDI:: NC_000005.10:112161648:C:G,NC_000005.10:112161648:C:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.112161649C>G, NC_000005.10:g.112161649C>T, NC_000005.9:g.111497346C>G, NC_000005.9:g.111497346C>T, NG_052950.1:g.262668G>C, NG_052950.1:g.262668G>A, NG_083790.1:g.1357C>G, NG_083790.1:g.1357C>T

Select item 148126424116.

rs1481264241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112161511 (GRCh38)
5:111497208 (GRCh37)
Canonical SPDI:: NC_000005.10:112161510:G:A
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.112161511G>A, NC_000005.9:g.111497208G>A, NG_052950.1:g.262806C>T, NG_083790.1:g.1219G>A, NR_002922.1:n.27G>A

Select item 148042814517.

rs1480428145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:112160023 (GRCh38)
5:111495720 (GRCh37)
Canonical SPDI:: NC_000005.10:112160022:G:A,NC_000005.10:112160022:G:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.112160023G>A, NC_000005.10:g.112160023G>T, NC_000005.9:g.111495720G>A, NC_000005.9:g.111495720G>T, NG_052950.1:g.264294C>T, NG_052950.1:g.264294C>A

Select item 148038056718.

rs1480380567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:112160073 (GRCh38)
5:111495770 (GRCh37)
Canonical SPDI:: NC_000005.10:112160072:A:G
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.112160073A>G, NC_000005.9:g.111495770A>G, NG_052950.1:g.264244T>C

Select item 147989122719.

rs1479891227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:112160698 (GRCh38)
5:111496395 (GRCh37)
Canonical SPDI:: NC_000005.10:112160697:C:T
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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_000005.10:g.112160698C>T, NC_000005.9:g.111496395C>T, NG_052950.1:g.263619G>A, NG_083790.1:g.406C>T, NR_015370.2:n.173C>T, NM_053000.1:c.-84C>T

Select item 147956579820.

rs1479565798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112160900 (GRCh38)
5:111496597 (GRCh37)
Canonical SPDI:: NC_000005.10:112160899:T:C
Gene:: EPB41L4A (Varview), EPB41L4A-AS1 (Varview), SNORA13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.112160900T>C, NC_000005.9:g.111496597T>C, NG_052950.1:g.263417A>G, NG_083790.1:g.608T>C, NR_015370.2:n.375T>C, NM_053000.1:c.119T>C

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