SNP Links for Gene (Select 80117) - SNP

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Select item 14912107721.

rs1491210772 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:160676171 (GRCh38)
3:160393959 (GRCh37)
Canonical SPDI:: NC_000003.12:160676169:TGT:T
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000235/28 (GnomAD)
HGVS:: NC_000003.12:g.160676171_160676172del, NC_000003.11:g.160393959_160393960del

Select item 14911540372.

rs1491154037 has merged into rs76426610 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:160677306 (GRCh38)
3:160395094 (GRCh37)
Canonical SPDI:: NC_000003.12:160677301:AAAAAAAAAAAA:AAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:160677301:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ARL14 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00833/5 (NorthernSweden)
-=0.09982/486 (1000Genomes)
HGVS:: NC_000003.12:g.160677306_160677313del, NC_000003.12:g.160677310_160677313del, NC_000003.12:g.160677312_160677313del, NC_000003.12:g.160677313del, NC_000003.12:g.160677313dup, NC_000003.12:g.160677312_160677313dup, NC_000003.12:g.160677310_160677313dup, NC_000003.11:g.160395094_160395101del, NC_000003.11:g.160395098_160395101del, NC_000003.11:g.160395100_160395101del, NC_000003.11:g.160395101del, NC_000003.11:g.160395101dup, NC_000003.11:g.160395100_160395101dup, NC_000003.11:g.160395098_160395101dup, NG_083185.1:g.760_767del, NG_083185.1:g.764_767del, NG_083185.1:g.766_767del, NG_083185.1:g.767del, NG_083185.1:g.767dup, NG_083185.1:g.766_767dup, NG_083185.1:g.764_767dup, NM_025047.3:c.-41_-34del, NM_025047.3:c.-37_-34del, NM_025047.3:c.-35_-34del, NM_025047.3:c.-34del, NM_025047.3:c.-34dup, NM_025047.3:c.-35_-34dup, NM_025047.3:c.-37_-34dup, NM_025047.2:c.-41_-34del, NM_025047.2:c.-37_-34del, NM_025047.2:c.-35_-34del, NM_025047.2:c.-34del, NM_025047.2:c.-34dup, NM_025047.2:c.-35_-34dup, NM_025047.2:c.-37_-34dup

Select item 14911309393.

rs1491130939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:160676170 (GRCh38)
3:160393959 (GRCh37)
Canonical SPDI:: NC_000003.12:160676170:G:GG
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160676171dup, NC_000003.11:g.160393959dup

Select item 14896920764.

rs1489692076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160677116 (GRCh38)
3:160394904 (GRCh37)
Canonical SPDI:: NC_000003.12:160677115:T:C
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160677116T>C, NC_000003.11:g.160394904T>C, NG_083185.1:g.570T>C

Select item 14893433635.

rs1489343363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG,GGG [Show Flanks]
Chromosome:: 3:160675891 (GRCh38)
3:160393680 (GRCh37)
Canonical SPDI:: NC_000003.12:160675891:GGGG:GGGGGG,NC_000003.12:160675891:GGGG:GGGGGGG
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
GG=0.00003/3 (GnomAD)
HGVS:: NC_000003.12:g.160675894_160675895dup, NC_000003.12:g.160675893_160675895dup, NC_000003.11:g.160393682_160393683dup, NC_000003.11:g.160393681_160393683dup

Select item 14892103726.

rs1489210372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160675278 (GRCh38)
3:160393066 (GRCh37)
Canonical SPDI:: NC_000003.12:160675277:G:A
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160675278G>A, NC_000003.11:g.160393066G>A

Select item 14876227547.

rs1487622754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160676624 (GRCh38)
3:160394412 (GRCh37)
Canonical SPDI:: NC_000003.12:160676623:A:G
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.160676624A>G, NC_000003.11:g.160394412A>G, NG_083185.1:g.78A>G

Select item 14873489808.

rs1487348980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160675438 (GRCh38)
3:160393226 (GRCh37)
Canonical SPDI:: NC_000003.12:160675437:A:G
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.160675438A>G, NC_000003.11:g.160393226A>G

Select item 14869503779.

rs1486950377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:160677615 (GRCh38)
3:160395403 (GRCh37)
Canonical SPDI:: NC_000003.12:160677614:A:T
Gene:: ARL14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.160677615A>T, NC_000003.11:g.160395403A>T, NG_083185.1:g.1069A>T, NM_025047.3:c.269A>T, NM_025047.2:c.269A>T, NP_079323.1:p.Asp90Val

Select item 148598484810.

rs1485984848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:160677253 (GRCh38)
3:160395041 (GRCh37)
Canonical SPDI:: NC_000003.12:160677252:G:A,NC_000003.12:160677252:G:T
Gene:: ARL14 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.160677253G>A, NC_000003.12:g.160677253G>T, NC_000003.11:g.160395041G>A, NC_000003.11:g.160395041G>T, NG_083185.1:g.707G>A, NG_083185.1:g.707G>T, NM_025047.3:c.-94G>A, NM_025047.3:c.-94G>T, NM_025047.2:c.-94G>A, NM_025047.2:c.-94G>T

Select item 148538078211.

rs1485380782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:160678657 (GRCh38)
3:160396445 (GRCh37)
Canonical SPDI:: NC_000003.12:160678656:A:T
Gene:: ARL14 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.160678657A>T, NC_000003.11:g.160396445A>T

Select item 148452036012.

rs1484520360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160676529 (GRCh38)
3:160394317 (GRCh37)
Canonical SPDI:: NC_000003.12:160676528:G:A
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160676529G>A, NC_000003.11:g.160394317G>A

Select item 148449596513.

rs1484495965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160676273 (GRCh38)
3:160394061 (GRCh37)
Canonical SPDI:: NC_000003.12:160676272:C:T
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.160676273C>T, NC_000003.11:g.160394061C>T

Select item 148401160014.

rs1484011600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:160677655 (GRCh38)
3:160395443 (GRCh37)
Canonical SPDI:: NC_000003.12:160677654:G:A,NC_000003.12:160677654:G:C
Gene:: ARL14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160677655G>A, NC_000003.12:g.160677655G>C, NC_000003.11:g.160395443G>A, NC_000003.11:g.160395443G>C, NG_083185.1:g.1109G>A, NG_083185.1:g.1109G>C, NM_025047.3:c.309G>A, NM_025047.3:c.309G>C, NM_025047.2:c.309G>A, NM_025047.2:c.309G>C, NP_079323.1:p.Gln103His

Select item 148325375715.

rs1483253757 has merged into rs1344796330 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:160675244 (GRCh38)
3:160393032 (GRCh37)
Canonical SPDI:: NC_000003.12:160675243:TTTTTTTT:TTTTTTT,NC_000003.12:160675243:TTTTTTTT:TTTTTTTTT
Gene:: ARL14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00005/1 (ALFA)
-=0.00022/1 (Estonian)
HGVS:: NC_000003.12:g.160675251del, NC_000003.12:g.160675251dup, NC_000003.11:g.160393039del, NC_000003.11:g.160393039dup

Select item 148267698516.

rs1482676985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:160677841 (GRCh38)
3:160395629 (GRCh37)
Canonical SPDI:: NC_000003.12:160677840:C:T
Gene:: ARL14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160677841C>T, NC_000003.11:g.160395629C>T, NG_083185.1:g.1295C>T, NM_025047.3:c.495C>T, NM_025047.2:c.495C>T

Select item 148261636317.

rs1482616363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:160676171 (GRCh38)
3:160393959 (GRCh37)
Canonical SPDI:: NC_000003.12:160676170:G:A,NC_000003.12:160676170:G:T
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000927/15 (ALFA)
T=0.000153/19 (GnomAD)
T=0.000819/14 (TOMMO)
T=0.025325/74 (KOREAN)
HGVS:: NC_000003.12:g.160676171G>A, NC_000003.12:g.160676171G>T, NC_000003.11:g.160393959G>A, NC_000003.11:g.160393959G>T

Select item 148123582618.

rs1481235826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160677533 (GRCh38)
3:160395321 (GRCh37)
Canonical SPDI:: NC_000003.12:160677532:T:C
Gene:: ARL14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.160677533T>C, NC_000003.11:g.160395321T>C, NG_083185.1:g.987T>C, NM_025047.3:c.187T>C, NM_025047.2:c.187T>C, NP_079323.1:p.Trp63Arg

Select item 148027232619.

rs1480272326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:160675898 (GRCh38)
3:160393686 (GRCh37)
Canonical SPDI:: NC_000003.12:160675897:T:A,NC_000003.12:160675897:T:C,NC_000003.12:160675897:T:G
Gene:: ARL14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.160675898T>A, NC_000003.12:g.160675898T>C, NC_000003.12:g.160675898T>G, NC_000003.11:g.160393686T>A, NC_000003.11:g.160393686T>C, NC_000003.11:g.160393686T>G

Select item 148016087420.

rs1480160874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160678043 (GRCh38)
3:160395831 (GRCh37)
Canonical SPDI:: NC_000003.12:160678042:T:C
Gene:: ARL14 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160678043T>C, NC_000003.11:g.160395831T>C, NM_025047.3:c.*118T>C, NM_025047.2:c.*118T>C