SNP Links for Gene (Select 57449) - SNP

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Select item 14915812661.

rs1491581266 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:6469127 (GRCh38)
1:6529187 (GRCh37)
Canonical SPDI:: NC_000001.11:6469126:CC:
Gene:: PLEKHG5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000031/6 (GnomAD_exomes)
-=0.000068/6 (ExAC)
-=0.000157/18 (GnomAD)
HGVS:: NC_000001.11:g.6469127_6469128del, NC_000001.10:g.6529187_6529188del, NG_007978.1:g.55882_55883del, NM_020631.6:c.2163_2164del, NM_020631.5:c.2163_2164del, NM_020631.4:c.2163_2164del, NM_198681.4:c.2163_2164del, NM_198681.3:c.2394_2395del, NM_001042663.3:c.2274_2275del, NM_001042663.2:c.2331_2332del, NM_001042663.1:c.2331_2332del, NM_001265594.2:c.2163_2164del, NM_001265594.1:c.2163_2164del, NM_001265592.2:c.2274_2275del, NM_001265592.1:c.2400_2401del, NM_001265593.1:c.2370_2371del, NM_001042664.1:c.2163_2164del, NM_001042665.1:c.2163_2164del, NG_029910.1:g.2068_2069del, NP_065682.2:p.Glu722fs, NP_941374.3:p.Glu722fs, NP_001036128.2:p.Glu759fs, NP_001252523.1:p.Glu722fs, NP_001252521.2:p.Glu759fs, NP_001252522.1:p.Glu791fs, NP_001036129.1:p.Glu722fs, NP_001036130.1:p.Glu722fs

Select item 14915373442.

rs1491537344 has merged into rs372606355 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 1:6485985 (GRCh38)
1:6546045 (GRCh37)
Canonical SPDI:: NC_000001.11:6485977:CCCCCCCCC:CCCCCCC,NC_000001.11:6485977:CCCCCCCCC:CCCCCCCC,NC_000001.11:6485977:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:6485977:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:6485977:CCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:6485977:CCCCCCCCC:CCCCCCCCCCCCC
Gene:: PLEKHG5 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
C=0.071667/43 (NorthernSweden)
C=0.075/3 (GENOME_DK)
C=0.104615/467 (Estonian)
HGVS:: NC_000001.11:g.6485985_6485986del, NC_000001.11:g.6485986del, NC_000001.11:g.6485986dup, NC_000001.11:g.6485985_6485986dup, NC_000001.11:g.6485984_6485986dup, NC_000001.11:g.6485983_6485986dup, NC_000001.10:g.6546045_6546046del, NC_000001.10:g.6546046del, NC_000001.10:g.6546046dup, NC_000001.10:g.6546045_6546046dup, NC_000001.10:g.6546044_6546046dup, NC_000001.10:g.6546043_6546046dup, NG_007978.1:g.39031_39032del, NG_007978.1:g.39032del, NG_007978.1:g.39032dup, NG_007978.1:g.39031_39032dup, NG_007978.1:g.39030_39032dup, NG_007978.1:g.39029_39032dup

Select item 14913640983.

rs1491364098 has merged into rs35179738 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 1:6516775 (GRCh38)
1:6576835 (GRCh37)
Canonical SPDI:: NC_000001.11:6516767:TATATATAT:TATATAT,NC_000001.11:6516767:TATATATAT:TATATATATAT,NC_000001.11:6516767:TATATATAT:TATATATATATAT,NC_000001.11:6516767:TATATATAT:TATATATATATATAT
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000001.11:g.6516769AT[3], NC_000001.11:g.6516769AT[5], NC_000001.11:g.6516769AT[6], NC_000001.11:g.6516769AT[7], NC_000001.10:g.6576829AT[3], NC_000001.10:g.6576829AT[5], NC_000001.10:g.6576829AT[6], NC_000001.10:g.6576829AT[7], NG_007978.1:g.8235TA[3], NG_007978.1:g.8235TA[5], NG_007978.1:g.8235TA[6], NG_007978.1:g.8235TA[7]

Select item 14908733964.

rs1490873396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6491070 (GRCh38)
1:6551130 (GRCh37)
Canonical SPDI:: NC_000001.11:6491069:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6491070G>A, NC_000001.10:g.6551130G>A, NG_007978.1:g.33940C>T

Select item 14908509085.

rs1490850908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:6478130 (GRCh38)
1:6538190 (GRCh37)
Canonical SPDI:: NC_000001.11:6478129:C:G,NC_000001.11:6478129:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.6478130C>G, NC_000001.11:g.6478130C>T, NC_000001.10:g.6538190C>G, NC_000001.10:g.6538190C>T, NG_007978.1:g.46880G>C, NG_007978.1:g.46880G>A

Select item 14907574726.

rs1490757472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6484353 (GRCh38)
1:6544413 (GRCh37)
Canonical SPDI:: NC_000001.11:6484352:C:G
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6484353C>G, NC_000001.10:g.6544413C>G, NG_007978.1:g.40657G>C

Select item 14906837507.

rs1490683750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:6519188 (GRCh38)
1:6579248 (GRCh37)
Canonical SPDI:: NC_000001.11:6519187:A:G,NC_000001.11:6519187:A:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.6519188A>G, NC_000001.11:g.6519188A>T, NC_000001.10:g.6579248A>G, NC_000001.10:g.6579248A>T, NG_007978.1:g.5822T>C, NG_007978.1:g.5822T>A

Select item 14906573178.

rs1490657317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:6518989 (GRCh38)
1:6579049 (GRCh37)
Canonical SPDI:: NC_000001.11:6518988:C:G,NC_000001.11:6518988:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.6518989C>G, NC_000001.11:g.6518989C>T, NC_000001.10:g.6579049C>G, NC_000001.10:g.6579049C>T, NG_007978.1:g.6021G>C, NG_007978.1:g.6021G>A

Select item 14906479219.

rs1490647921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:6470111 (GRCh38)
1:6530171 (GRCh37)
Canonical SPDI:: NC_000001.11:6470110:A:C
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6470111A>C, NC_000001.10:g.6530171A>C, NG_007978.1:g.54899T>G, NG_029910.1:g.1085T>G

Select item 149062314510.

rs1490623145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:6470993 (GRCh38)
1:6531053 (GRCh37)
Canonical SPDI:: NC_000001.11:6470992:G:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6470993G>T, NC_000001.10:g.6531053G>T, NG_007978.1:g.54017C>A, NM_020631.6:c.1389C>A, NM_020631.5:c.1389C>A, NM_020631.4:c.1389C>A, NM_198681.4:c.1389C>A, NM_198681.3:c.1620C>A, NM_001042663.3:c.1500C>A, NM_001042663.2:c.1557C>A, NM_001042663.1:c.1557C>A, NM_001265594.2:c.1389C>A, NM_001265594.1:c.1389C>A, NM_001265592.2:c.1500C>A, NM_001265592.1:c.1626C>A, NM_001265593.1:c.1596C>A, NM_001042664.1:c.1389C>A, NM_001042665.1:c.1389C>A, NG_029910.1:g.203C>A

Select item 149049091211.

rs1490490912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6474927 (GRCh38)
1:6534987 (GRCh37)
Canonical SPDI:: NC_000001.11:6474926:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6474927C>T, NC_000001.10:g.6534987C>T, NG_007978.1:g.50083G>A

Select item 149033767012.

rs1490337670 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:6517563 (GRCh38)
1:6577623 (GRCh37)
Canonical SPDI:: NC_000001.11:6517560:CTCT:CT
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6517561CT[1], NC_000001.10:g.6577621CT[1], NG_007978.1:g.7446AG[1]

Select item 149031488813.

rs1490314888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6484364 (GRCh38)
1:6544424 (GRCh37)
Canonical SPDI:: NC_000001.11:6484363:C:T
Gene:: PLEKHG5 (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_000001.11:g.6484364C>T, NC_000001.10:g.6544424C>T, NG_007978.1:g.40646G>A

Select item 149030163914.

rs1490301639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6515819 (GRCh38)
1:6575879 (GRCh37)
Canonical SPDI:: NC_000001.11:6515818:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.6515819G>A, NC_000001.10:g.6575879G>A, NG_007978.1:g.9191C>T

Select item 149029558215.

rs1490295582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6497304 (GRCh38)
1:6557364 (GRCh37)
Canonical SPDI:: NC_000001.11:6497303:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6497304C>T, NC_000001.10:g.6557364C>T, NG_007978.1:g.27706G>A

Select item 149021622616.

rs1490216226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6511642 (GRCh38)
1:6571702 (GRCh37)
Canonical SPDI:: NC_000001.11:6511641:T:C
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6511642T>C, NC_000001.10:g.6571702T>C, NG_007978.1:g.13368A>G

Select item 149019089717.

rs1490190897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6510656 (GRCh38)
1:6570716 (GRCh37)
Canonical SPDI:: NC_000001.11:6510655:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.6510656C>T, NC_000001.10:g.6570716C>T, NG_007978.1:g.14354G>A

Select item 149010612918.

rs1490106129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6471381 (GRCh38)
1:6531441 (GRCh37)
Canonical SPDI:: NC_000001.11:6471380:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6471381G>A, NC_000001.10:g.6531441G>A, NG_007978.1:g.53629C>T

Select item 149006301919.

rs1490063019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6476780 (GRCh38)
1:6536840 (GRCh37)
Canonical SPDI:: NC_000001.11:6476779:G:A
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6476780G>A, NC_000001.10:g.6536840G>A, NG_007978.1:g.48230C>T, NG_081922.1:g.118G>A

Select item 149003746620.

rs1490037466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6476694 (GRCh38)
1:6536754 (GRCh37)
Canonical SPDI:: NC_000001.11:6476693:C:T
Gene:: PLEKHG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6476694C>T, NC_000001.10:g.6536754C>T, NG_007978.1:g.48316G>A, NG_081922.1:g.32C>T

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