SNP Links for Gene (Select 102723604) - SNP

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Select item 14915884991.

rs1491588499 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:51918037 (GRCh38)
14:52384755 (GRCh37)
Canonical SPDI:: NC_000014.9:51918036:CA:
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.51918037_51918038del, NC_000014.8:g.52384755_52384756del

Select item 14909164292.

rs1490916429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:51918219 (GRCh38)
14:52384937 (GRCh37)
Canonical SPDI:: NC_000014.9:51918218:C:T
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.51918219C>T, NC_000014.8:g.52384937C>T

Select item 14908712863.

rs1490871286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:51919172 (GRCh38)
14:52385890 (GRCh37)
Canonical SPDI:: NC_000014.9:51919171:A:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000023/3 (GnomAD)
HGVS:: NC_000014.9:g.51919172A>C, NC_000014.8:g.52385890A>C

Select item 14903787234.

rs1490378723 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:51919679 (GRCh38)
14:52386397 (GRCh37)
Canonical SPDI:: NC_000014.9:51919678:A:
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.51919679del, NC_000014.8:g.52386397del

Select item 14903373475.

rs1490337347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:51917129 (GRCh38)
14:52383847 (GRCh37)
Canonical SPDI:: NC_000014.9:51917128:T:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000071/10 (GnomAD)
HGVS:: NC_000014.9:g.51917129T>C, NC_000014.8:g.52383847T>C

Select item 14897154056.

rs1489715405 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>- [Show Flanks]
Chromosome:: 14:51916246 (GRCh38)
14:52382964 (GRCh37)
Canonical SPDI:: NC_000014.9:51916243:AGAGAG:AG
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.51916244AG[1], NC_000014.8:g.52382962AG[1], NR_126331.1:n.425CT[1]

Select item 14879103857.

rs1487910385 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 14:51920370 (GRCh38)
14:52387088 (GRCh37)
Canonical SPDI:: NC_000014.9:51920364:ATAATAAT:ATAAT
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAT=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000043/6 (GnomAD)
-=0.00006/1 (TOMMO)
HGVS:: NC_000014.9:g.51920367AAT[1], NC_000014.8:g.52387085AAT[1]

Select item 14873624388.

rs1487362438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:51920202 (GRCh38)
14:52386920 (GRCh37)
Canonical SPDI:: NC_000014.9:51920201:C:T
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.51920202C>T, NC_000014.8:g.52386920C>T

Select item 14867182419.

rs1486718241 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 14:51918567 (GRCh38)
14:52385285 (GRCh37)
Canonical SPDI:: NC_000014.9:51918563:CTTCTT:CTT
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.51918564CTT[1], NC_000014.8:g.52385282CTT[1], NR_126331.1:n.3AAG[1]

Select item 148652293610.

rs1486522936 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:51915991 (GRCh38)
14:52382709 (GRCh37)
Canonical SPDI:: NC_000014.9:51915990:A:
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.51915991del, NC_000014.8:g.52382709del

Select item 148510179111.

rs1485101791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:51918197 (GRCh38)
14:52384915 (GRCh37)
Canonical SPDI:: NC_000014.9:51918196:G:A
Gene:: GNG2 (Varview), LOC102723604 (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_000014.9:g.51918197G>A, NC_000014.8:g.52384915G>A

Select item 148437285712.

rs1484372857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:51916786 (GRCh38)
14:52383504 (GRCh37)
Canonical SPDI:: NC_000014.9:51916785:G:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.51916786G>C, NC_000014.8:g.52383504G>C

Select item 148292875913.

rs1482928759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:51916468 (GRCh38)
14:52383186 (GRCh37)
Canonical SPDI:: NC_000014.9:51916467:T:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.51916468T>C, NC_000014.8:g.52383186T>C, NR_126331.1:n.206A>G

Select item 148231641314.

rs1482316413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:51917556 (GRCh38)
14:52384274 (GRCh37)
Canonical SPDI:: NC_000014.9:51917555:G:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.51917556G>C, NC_000014.8:g.52384274G>C

Select item 148211061215.

rs1482110612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:51920491 (GRCh38)
14:52387209 (GRCh37)
Canonical SPDI:: NC_000014.9:51920490:T:C
Gene:: GNG2 (Varview), LOC102723604 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.51920491T>C, NC_000014.8:g.52387209T>C

Select item 148202051916.

rs1482020519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:51920134 (GRCh38)
14:52386852 (GRCh37)
Canonical SPDI:: NC_000014.9:51920133:T:C
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.51920134T>C, NC_000014.8:g.52386852T>C

Select item 148184260717.

rs1481842607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:51916715 (GRCh38)
14:52383433 (GRCh37)
Canonical SPDI:: NC_000014.9:51916714:C:A,NC_000014.9:51916714:C:G,NC_000014.9:51916714:C:T
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.51916715C>A, NC_000014.9:g.51916715C>G, NC_000014.9:g.51916715C>T, NC_000014.8:g.52383433C>A, NC_000014.8:g.52383433C>G, NC_000014.8:g.52383433C>T

Select item 148157143218.

rs1481571432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:51919274 (GRCh38)
14:52385992 (GRCh37)
Canonical SPDI:: NC_000014.9:51919273:A:G
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.51919274A>G, NC_000014.8:g.52385992A>G

Select item 148125749619.

rs1481257496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:51915832 (GRCh38)
14:52382550 (GRCh37)
Canonical SPDI:: NC_000014.9:51915831:G:T
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000071/10 (GnomAD)
HGVS:: NC_000014.9:g.51915832G>T, NC_000014.8:g.52382550G>T

Select item 148099062520.

rs1480990625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:51919299 (GRCh38)
14:52386017 (GRCh37)
Canonical SPDI:: NC_000014.9:51919298:G:A
Gene:: GNG2 (Varview), LOC102723604 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.51919299G>A, NC_000014.8:g.52386017G>A

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