SNP Links for Gene (Select 27148) - SNP

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Select item 14910850271.

rs1491085027 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:218684438 (GRCh38)
2:219549161 (GRCh37)
Canonical SPDI:: NC_000002.12:218684437:TG:
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000674/8 (ALFA)
-=0.000065/8 (GnomAD)
HGVS:: NC_000002.12:g.218684438_218684439del, NC_000002.11:g.219549161_219549162del, NG_029739.1:g.17413_17414del

Select item 14910569472.

rs1491056947 has merged into rs35930271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:218683972 (GRCh38)
2:219548695 (GRCh37)
Canonical SPDI:: NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:218683961:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.375/3 (KOREAN)
HGVS:: NC_000002.12:g.218683972_218683979del, NC_000002.12:g.218683977_218683979del, NC_000002.12:g.218683978_218683979del, NC_000002.12:g.218683979del, NC_000002.12:g.218683979dup, NC_000002.12:g.218683978_218683979dup, NC_000002.12:g.218683977_218683979dup, NC_000002.12:g.218683976_218683979dup, NC_000002.12:g.218683971_218683979dup, NC_000002.11:g.219548695_219548702del, NC_000002.11:g.219548700_219548702del, NC_000002.11:g.219548701_219548702del, NC_000002.11:g.219548702del, NC_000002.11:g.219548702dup, NC_000002.11:g.219548701_219548702dup, NC_000002.11:g.219548700_219548702dup, NC_000002.11:g.219548699_219548702dup, NC_000002.11:g.219548694_219548702dup, NG_029739.1:g.16947_16954del, NG_029739.1:g.16952_16954del, NG_029739.1:g.16953_16954del, NG_029739.1:g.16954del, NG_029739.1:g.16954dup, NG_029739.1:g.16953_16954dup, NG_029739.1:g.16952_16954dup, NG_029739.1:g.16951_16954dup, NG_029739.1:g.16946_16954dup

Select item 14909848463.

rs1490984846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218679334 (GRCh38)
2:219544057 (GRCh37)
Canonical SPDI:: NC_000002.12:218679333:C:T
Gene:: STK36 (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_000002.12:g.218679334C>T, NC_000002.11:g.219544057C>T, NG_029739.1:g.12309C>T

Select item 14909493294.

rs1490949329 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 2:218674929 (GRCh38)
2:219539652 (GRCh37)
Canonical SPDI:: NC_000002.12:218674920:TTGTTTGTTTGT:TTGTTTGT
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTTTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218674921TTGT[2], NC_000002.11:g.219539644TTGT[2], NG_029739.1:g.7896TTGT[2]

Select item 14909322025.

rs1490932202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218695200 (GRCh38)
2:219559923 (GRCh37)
Canonical SPDI:: NC_000002.12:218695199:T:C
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218695200T>C, NC_000002.11:g.219559923T>C, NG_029739.1:g.28175T>C

Select item 14908394566.

rs1490839456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218670935 (GRCh38)
2:219535658 (GRCh37)
Canonical SPDI:: NC_000002.12:218670934:G:A
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218670935G>A, NC_000002.11:g.219535658G>A, NG_029739.1:g.3910G>A

Select item 14907090937.

rs1490709093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218691740 (GRCh38)
2:219556463 (GRCh37)
Canonical SPDI:: NC_000002.12:218691739:T:C
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218691740T>C, NC_000002.11:g.219556463T>C, NG_029739.1:g.24715T>C

Select item 14906935988.

rs1490693598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:218687501 (GRCh38)
2:219552224 (GRCh37)
Canonical SPDI:: NC_000002.12:218687500:A:C
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.218687501A>C, NC_000002.11:g.219552224A>C, NG_029739.1:g.20476A>C

Select item 14906838539.

rs1490683853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:218694428 (GRCh38)
2:219559151 (GRCh37)
Canonical SPDI:: NC_000002.12:218694427:A:T
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/3 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.218694428A>T, NC_000002.11:g.219559151A>T, NG_029739.1:g.27403A>T

Select item 149063348510.

rs1490633485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218696410 (GRCh38)
2:219561133 (GRCh37)
Canonical SPDI:: NC_000002.12:218696409:A:G
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.218696410A>G, NC_000002.11:g.219561133A>G, NG_029739.1:g.29385A>G

Select item 149045902711.

rs1490459027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:218675953 (GRCh38)
2:219540676 (GRCh37)
Canonical SPDI:: NC_000002.12:218675950:ATAT:AT
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218675951AT[1], NC_000002.11:g.219540674AT[1], NG_029739.1:g.8926AT[1]

Select item 149040915312.

rs1490409153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218696153 (GRCh38)
2:219560876 (GRCh37)
Canonical SPDI:: NC_000002.12:218696152:C:T
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218696153C>T, NC_000002.11:g.219560876C>T, NG_029739.1:g.29128C>T

Select item 149025187713.

rs1490251877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218671574 (GRCh38)
2:219536297 (GRCh37)
Canonical SPDI:: NC_000002.12:218671573:T:C
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218671574T>C, NC_000002.11:g.219536297T>C, NG_029739.1:g.4549T>C

Select item 149023966314.

rs1490239663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218693875 (GRCh38)
2:219558598 (GRCh37)
Canonical SPDI:: NC_000002.12:218693874:A:G
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218693875A>G, NC_000002.11:g.219558598A>G, NG_029739.1:g.26850A>G

Select item 149022595415.

rs1490225954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218677690 (GRCh38)
2:219542413 (GRCh37)
Canonical SPDI:: NC_000002.12:218677689:G:A
Gene:: STK36 (Varview)
Functional Consequence:: intron_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_000002.12:g.218677690G>A, NC_000002.11:g.219542413G>A, NG_029739.1:g.10665G>A

Select item 149014210016.

rs1490142100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218695524 (GRCh38)
2:219560247 (GRCh37)
Canonical SPDI:: NC_000002.12:218695523:A:G
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000018/2 (GnomAD)
HGVS:: NC_000002.12:g.218695524A>G, NC_000002.11:g.219560247A>G, NG_029739.1:g.28499A>G

Select item 148990584917.

rs1489905849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218685766 (GRCh38)
2:219550489 (GRCh37)
Canonical SPDI:: NC_000002.12:218685765:A:G
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000064/17 (TOPMED)
G=0.000086/12 (GnomAD)
HGVS:: NC_000002.12:g.218685766A>G, NC_000002.11:g.219550489A>G, NG_029739.1:g.18741A>G

Select item 148975105618.

rs1489751056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:218672681 (GRCh38)
2:219537404 (GRCh37)
Canonical SPDI:: NC_000002.12:218672680:T:A,NC_000002.12:218672680:T:C
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218672681T>A, NC_000002.12:g.218672681T>C, NC_000002.11:g.219537404T>A, NC_000002.11:g.219537404T>C, NG_029739.1:g.5656T>A, NG_029739.1:g.5656T>C

Select item 148969704719.

rs1489697047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:218693204 (GRCh38)
2:219557927 (GRCh37)
Canonical SPDI:: NC_000002.12:218693203:G:A,NC_000002.12:218693203:G:T
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218693204G>A, NC_000002.12:g.218693204G>T, NC_000002.11:g.219557927G>A, NC_000002.11:g.219557927G>T, NG_029739.1:g.26179G>A, NG_029739.1:g.26179G>T

Select item 148967020420.

rs1489670204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218678133 (GRCh38)
2:219542856 (GRCh37)
Canonical SPDI:: NC_000002.12:218678132:T:G
Gene:: STK36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218678133T>G, NC_000002.11:g.219542856T>G, NG_029739.1:g.11108T>G

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