SNP Links for Gene (Select 64396) - SNP

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Select item 14911465131.

rs1491146513 has merged into rs61575601 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178189319 (GRCh38)
5:177616320 (GRCh37)
Canonical SPDI:: NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GMCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178189319_178189335del, NC_000005.10:g.178189320_178189335del, NC_000005.10:g.178189322_178189335del, NC_000005.10:g.178189323_178189335del, NC_000005.10:g.178189324_178189335del, NC_000005.10:g.178189325_178189335del, NC_000005.10:g.178189326_178189335del, NC_000005.10:g.178189327_178189335del, NC_000005.10:g.178189328_178189335del, NC_000005.10:g.178189329_178189335del, NC_000005.10:g.178189330_178189335del, NC_000005.10:g.178189331_178189335del, NC_000005.10:g.178189332_178189335del, NC_000005.10:g.178189333_178189335del, NC_000005.10:g.178189334_178189335del, NC_000005.10:g.178189335del, NC_000005.10:g.178189335dup, NC_000005.10:g.178189334_178189335dup, NC_000005.10:g.178189333_178189335dup, NC_000005.10:g.178189331_178189335dup, NC_000005.10:g.178189325_178189335dup, NC_000005.10:g.178189315_178189335dup, NC_000005.10:g.178189335_178189336insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.177616320_177616336del, NC_000005.9:g.177616321_177616336del, NC_000005.9:g.177616323_177616336del, NC_000005.9:g.177616324_177616336del, NC_000005.9:g.177616325_177616336del, NC_000005.9:g.177616326_177616336del, NC_000005.9:g.177616327_177616336del, NC_000005.9:g.177616328_177616336del, NC_000005.9:g.177616329_177616336del, NC_000005.9:g.177616330_177616336del, NC_000005.9:g.177616331_177616336del, NC_000005.9:g.177616332_177616336del, NC_000005.9:g.177616333_177616336del, NC_000005.9:g.177616334_177616336del, NC_000005.9:g.177616335_177616336del, NC_000005.9:g.177616336del, NC_000005.9:g.177616336dup, NC_000005.9:g.177616335_177616336dup, NC_000005.9:g.177616334_177616336dup, NC_000005.9:g.177616332_177616336dup, NC_000005.9:g.177616326_177616336dup, NC_000005.9:g.177616316_177616336dup, NC_000005.9:g.177616336_177616337insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911041032.

rs1491104103 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178189309 (GRCh38)
5:177616310 (GRCh37)
Canonical SPDI:: NC_000005.10:178189308:CA:
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00438/52 (ALFA)
-=0.00065/18 (TOMMO)
HGVS:: NC_000005.10:g.178189309_178189310del, NC_000005.9:g.177616310_177616311del

Select item 14909351353.

rs1490935135 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:178184606 (GRCh38)
5:177611608 (GRCh37)
Canonical SPDI:: NC_000005.10:178184606::G
Gene:: GMCL2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.178184606_178184607insG, NC_000005.9:g.177611607_177611608insG, NM_022471.2:c.*1113_*1114insC, NM_001358008.2:c.*1112_*1113insC, NM_001358008.1:c.*1112_*1113insC, NR_003281.1:n.2826_2827insC

Select item 14903491564.

rs1490349156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178187817 (GRCh38)
5:177614818 (GRCh37)
Canonical SPDI:: NC_000005.10:178187816:T:C
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.178187817T>C, NC_000005.9:g.177614818T>C

Select item 14902366325.

rs1490236632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:178188813 (GRCh38)
5:177615814 (GRCh37)
Canonical SPDI:: NC_000005.10:178188812:G:A
Gene:: GMCL2 (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_000005.10:g.178188813G>A, NC_000005.9:g.177615814G>A

Select item 14898580196.

rs1489858019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:178188320 (GRCh38)
5:177615321 (GRCh37)
Canonical SPDI:: NC_000005.10:178188319:C:A,NC_000005.10:178188319:C:T
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.178188320C>A, NC_000005.10:g.178188320C>T, NC_000005.9:g.177615321C>A, NC_000005.9:g.177615321C>T

Select item 14896963807.

rs1489696380 has merged into rs61575601 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178189319 (GRCh38)
5:177616320 (GRCh37)
Canonical SPDI:: NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178189309:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GMCL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178189319_178189335del, NC_000005.10:g.178189320_178189335del, NC_000005.10:g.178189322_178189335del, NC_000005.10:g.178189323_178189335del, NC_000005.10:g.178189324_178189335del, NC_000005.10:g.178189325_178189335del, NC_000005.10:g.178189326_178189335del, NC_000005.10:g.178189327_178189335del, NC_000005.10:g.178189328_178189335del, NC_000005.10:g.178189329_178189335del, NC_000005.10:g.178189330_178189335del, NC_000005.10:g.178189331_178189335del, NC_000005.10:g.178189332_178189335del, NC_000005.10:g.178189333_178189335del, NC_000005.10:g.178189334_178189335del, NC_000005.10:g.178189335del, NC_000005.10:g.178189335dup, NC_000005.10:g.178189334_178189335dup, NC_000005.10:g.178189333_178189335dup, NC_000005.10:g.178189331_178189335dup, NC_000005.10:g.178189325_178189335dup, NC_000005.10:g.178189315_178189335dup, NC_000005.10:g.178189335_178189336insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.177616320_177616336del, NC_000005.9:g.177616321_177616336del, NC_000005.9:g.177616323_177616336del, NC_000005.9:g.177616324_177616336del, NC_000005.9:g.177616325_177616336del, NC_000005.9:g.177616326_177616336del, NC_000005.9:g.177616327_177616336del, NC_000005.9:g.177616328_177616336del, NC_000005.9:g.177616329_177616336del, NC_000005.9:g.177616330_177616336del, NC_000005.9:g.177616331_177616336del, NC_000005.9:g.177616332_177616336del, NC_000005.9:g.177616333_177616336del, NC_000005.9:g.177616334_177616336del, NC_000005.9:g.177616335_177616336del, NC_000005.9:g.177616336del, NC_000005.9:g.177616336dup, NC_000005.9:g.177616335_177616336dup, NC_000005.9:g.177616334_177616336dup, NC_000005.9:g.177616332_177616336dup, NC_000005.9:g.177616326_177616336dup, NC_000005.9:g.177616316_177616336dup, NC_000005.9:g.177616336_177616337insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14887780988.

rs1488778098 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:178186470 (GRCh38)
5:177613472 (GRCh37)
Canonical SPDI:: NC_000005.10:178186470:T:TT
Gene:: GMCL2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178186471dup, NC_000005.9:g.177613472dup, NM_022471.2:c.829dup, NM_001358008.2:c.829dup, NM_001358008.1:c.829dup, NR_003281.1:n.962dup, NP_001344937.1:p.Thr277fs

Select item 14876688099.

rs1487668809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:178189170 (GRCh38)
5:177616171 (GRCh37)
Canonical SPDI:: NC_000005.10:178189169:A:G
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.178189170A>G, NC_000005.9:g.177616171A>G

Select item 148742827210.

rs1487428272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:178187435 (GRCh38)
5:177614436 (GRCh37)
Canonical SPDI:: NC_000005.10:178187434:C:A,NC_000005.10:178187434:C:T
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178187435C>A, NC_000005.10:g.178187435C>T, NC_000005.9:g.177614436C>A, NC_000005.9:g.177614436C>T

Select item 148739744511.

rs1487397445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:178186366 (GRCh38)
5:177613367 (GRCh37)
Canonical SPDI:: NC_000005.10:178186365:C:A
Gene:: GMCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178186366C>A, NC_000005.9:g.177613367C>A, NM_022471.2:c.934G>T, NM_001358008.2:c.934G>T, NM_001358008.1:c.934G>T, NR_003281.1:n.1067G>T, NP_001344937.1:p.Asp312Tyr

Select item 148717370012.

rs1487173700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:178188128 (GRCh38)
5:177615129 (GRCh37)
Canonical SPDI:: NC_000005.10:178188127:A:T
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178188128A>T, NC_000005.9:g.177615129A>T

Select item 148687667613.

rs1486876676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178187178 (GRCh38)
5:177614179 (GRCh37)
Canonical SPDI:: NC_000005.10:178187177:T:C
Gene:: GMCL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.178187178T>C, NC_000005.9:g.177614179T>C, NM_022471.2:c.122A>G, NM_001358008.2:c.122A>G, NM_001358008.1:c.122A>G, NR_003281.1:n.255A>G, NP_001344937.1:p.Tyr41Cys

Select item 148650026414.

rs1486500264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:178184835 (GRCh38)
5:177611836 (GRCh37)
Canonical SPDI:: NC_000005.10:178184834:C:T
Gene:: GMCL2 (Varview)
Functional Consequence:: 3_prime_UTR_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.178184835C>T, NC_000005.9:g.177611836C>T, NM_022471.2:c.*885G>A, NM_001358008.2:c.*884G>A, NM_001358008.1:c.*884G>A, NR_003281.1:n.2598G>A

Select item 148613335815.

rs1486133358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:178189131 (GRCh38)
5:177616132 (GRCh37)
Canonical SPDI:: NC_000005.10:178189130:T:G
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.178189131T>G, NC_000005.9:g.177616132T>G

Select item 148608450816.

rs1486084508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:178189336 (GRCh38)
5:177616337 (GRCh37)
Canonical SPDI:: NC_000005.10:178189335:G:A,NC_000005.10:178189335:G:C,NC_000005.10:178189335:G:T
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
T=0.00055/1 (Korea1K)
A=0.01507/44 (KOREAN)
HGVS:: NC_000005.10:g.178189336G>A, NC_000005.10:g.178189336G>C, NC_000005.10:g.178189336G>T, NC_000005.9:g.177616337G>A, NC_000005.9:g.177616337G>C, NC_000005.9:g.177616337G>T

Select item 148592449117.

rs1485924491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178185290 (GRCh38)
5:177612291 (GRCh37)
Canonical SPDI:: NC_000005.10:178185289:T:C
Gene:: GMCL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.178185290T>C, NC_000005.9:g.177612291T>C, NM_022471.2:c.*429A>G, NM_001358008.2:c.*429A>G, NM_001358008.1:c.*429A>G, NR_003281.1:n.2143A>G

Select item 148236321918.

rs1482363219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178188956 (GRCh38)
5:177615957 (GRCh37)
Canonical SPDI:: NC_000005.10:178188955:T:C
Gene:: GMCL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.178188956T>C, NC_000005.9:g.177615957T>C

Select item 148165849419.

rs1481658494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178184368 (GRCh38)
5:177611369 (GRCh37)
Canonical SPDI:: NC_000005.10:178184367:T:C
Gene:: GMCL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000076/2 (GnomAD)
HGVS:: NC_000005.10:g.178184368T>C, NC_000005.9:g.177611369T>C

Select item 148150490120.

rs1481504901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:178185080 (GRCh38)
5:177612081 (GRCh37)
Canonical SPDI:: NC_000005.10:178185079:A:G,NC_000005.10:178185079:A:T
Gene:: GMCL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.178185080A>G, NC_000005.10:g.178185080A>T, NC_000005.9:g.177612081A>G, NC_000005.9:g.177612081A>T, NM_022471.2:c.*640T>C, NM_022471.2:c.*640T>A, NM_001358008.2:c.*639T>C, NM_001358008.2:c.*639T>A, NM_001358008.1:c.*639T>C, NM_001358008.1:c.*639T>A, NR_003281.1:n.2353T>C, NR_003281.1:n.2353T>A

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