SNP Links for Gene (Select 26077) - SNP

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Select item 14914618901.

rs1491461890 has merged into rs773562754 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 16:56195094 (GRCh38)
16:56229006 (GRCh37)
Canonical SPDI:: NC_000016.10:56195093:CC:C,NC_000016.10:56195093:CC:CCC
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.46737/1733 (TWINSUK)
HGVS:: NC_000016.10:g.56195095del, NC_000016.10:g.56195095dup, NC_000016.9:g.56229007del, NC_000016.9:g.56229007dup, NG_042800.1:g.8757del, NG_042800.1:g.8757dup

Select item 14909683272.

rs1490968327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:56196116 (GRCh38)
16:56230028 (GRCh37)
Canonical SPDI:: NC_000016.10:56196115:T:A
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56196116T>A, NC_000016.9:g.56230028T>A, NG_042800.1:g.9778T>A

Select item 14907272173.

rs1490727217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56194252 (GRCh38)
16:56228164 (GRCh37)
Canonical SPDI:: NC_000016.10:56194251:G:C
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.56194252G>C, NC_000016.9:g.56228164G>C, NG_042800.1:g.7914G>C, NR_026889.1:n.274C>G

Select item 14906929774.

rs1490692977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56193220 (GRCh38)
16:56227132 (GRCh37)
Canonical SPDI:: NC_000016.10:56193219:G:A
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.56193220G>A, NC_000016.9:g.56227132G>A, NG_042800.1:g.6882G>A, NR_026889.1:n.1306C>T

Select item 14904728355.

rs1490472835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAGGACACCT>- [Show Flanks]
Chromosome:: 16:56195102 (GRCh38)
16:56229014 (GRCh37)
Canonical SPDI:: NC_000016.10:56195100:TACAGGACACCT:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.56195102_56195112del, NC_000016.9:g.56229014_56229024del, NG_042800.1:g.8764_8774del

Select item 14898768676.

rs1489876867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56193671 (GRCh38)
16:56227583 (GRCh37)
Canonical SPDI:: NC_000016.10:56193670:C:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000016.10:g.56193671C>T, NC_000016.9:g.56227583C>T, NG_042800.1:g.7333C>T, NR_026889.1:n.855G>A

Select item 14893941677.

rs1489394167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56192491 (GRCh38)
16:56226403 (GRCh37)
Canonical SPDI:: NC_000016.10:56192490:C:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview), GNAO1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_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_000016.10:g.56192491C>T, NC_000016.9:g.56226403C>T, NG_042800.1:g.6153C>T

Select item 14893665448.

rs1489366544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56195354 (GRCh38)
16:56229266 (GRCh37)
Canonical SPDI:: NC_000016.10:56195353:G:A
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000016.10:g.56195354G>A, NC_000016.9:g.56229266G>A, NG_042800.1:g.9016G>A

Select item 14889920099.

rs1488992009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:56194071 (GRCh38)
16:56227984 (GRCh37)
Canonical SPDI:: NC_000016.10:56194071:G:GG
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56194072dup, NC_000016.9:g.56227984dup, NG_042800.1:g.7734dup, NR_026889.1:n.454dup

Select item 148873654410.

rs1488736544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:56195515 (GRCh38)
16:56229427 (GRCh37)
Canonical SPDI:: NC_000016.10:56195514:A:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000016.10:g.56195515A>T, NC_000016.9:g.56229427A>T, NG_042800.1:g.9177A>T

Select item 148871659711.

rs1488716597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56192994 (GRCh38)
16:56226906 (GRCh37)
Canonical SPDI:: NC_000016.10:56192993:C:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview), GNAO1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.56192994C>T, NC_000016.9:g.56226906C>T, NG_042800.1:g.6656C>T, NR_026889.1:n.1532G>A

Select item 148867229112.

rs1488672291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:56192207 (GRCh38)
16:56226119 (GRCh37)
Canonical SPDI:: NC_000016.10:56192206:G:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview), GNAO1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56192207G>T, NC_000016.9:g.56226119G>T, NG_042800.1:g.5869G>T, NM_138736.3:c.-29G>T, NM_138736.2:c.-29G>T, NM_020988.3:c.-29G>T, NM_020988.2:c.-29G>T, XR_007064866.1:n.719G>T

Select item 148814355613.

rs1488143556 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 16:56196467 (GRCh38)
16:56230379 (GRCh37)
Canonical SPDI:: NC_000016.10:56196464:AACAA:AA
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.56196467_56196469del, NC_000016.9:g.56230379_56230381del, NG_042800.1:g.10129_10131del

Select item 148807324414.

rs1488073244 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:56194955 (GRCh38)
16:56228867 (GRCh37)
Canonical SPDI:: NC_000016.10:56194954:A:
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.56194955del, NC_000016.9:g.56228867del, NG_042800.1:g.8617del

Select item 148772765915.

rs1487727659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:56195898 (GRCh38)
16:56229810 (GRCh37)
Canonical SPDI:: NC_000016.10:56195897:A:G
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56195898A>G, NC_000016.9:g.56229810A>G, NG_042800.1:g.9560A>G

Select item 148687184816.

rs1486871848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:56194563 (GRCh38)
16:56228475 (GRCh37)
Canonical SPDI:: NC_000016.10:56194562:G:T
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.56194563G>T, NC_000016.9:g.56228475G>T, NG_042800.1:g.8225G>T

Select item 148615105517.

rs1486151055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:56196339 (GRCh38)
16:56230251 (GRCh37)
Canonical SPDI:: NC_000016.10:56196338:A:G
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.56196339A>G, NC_000016.9:g.56230251A>G, NG_042800.1:g.10001A>G

Select item 148601213218.

rs1486012132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:56194360 (GRCh38)
16:56228272 (GRCh37)
Canonical SPDI:: NC_000016.10:56194359:C:G
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000016.10:g.56194360C>G, NC_000016.9:g.56228272C>G, NG_042800.1:g.8022C>G, NR_026889.1:n.166G>C

Select item 148560462819.

rs1485604628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56192409 (GRCh38)
16:56226321 (GRCh37)
Canonical SPDI:: NC_000016.10:56192408:G:C
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview), GNAO1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
HGVS:: NC_000016.10:g.56192409G>C, NC_000016.9:g.56226321G>C, NG_042800.1:g.6071G>C

Select item 148454654620.

rs1484546546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:56192325 (GRCh38)
16:56226237 (GRCh37)
Canonical SPDI:: NC_000016.10:56192324:C:A
Gene:: GNAO1 (Varview), GNAO1-AS1 (Varview), GNAO1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.56192325C>A, NC_000016.9:g.56226237C>A, NG_042800.1:g.5987C>A, NM_138736.3:c.90C>A, NM_138736.2:c.90C>A, NM_020988.3:c.90C>A, NM_020988.2:c.90C>A, XR_007064866.1:n.837C>A

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