SNP Links for Nucleotide (Select 221316724) - SNP

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Links from Nucleotide

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Select item 14902037011.

rs1490203701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49209210 (GRCh38)
17:47286572 (GRCh37)
Canonical SPDI:: NC_000017.11:49209209:G:A,NC_000017.11:49209209:G:T
Gene:: GNGT2 (Varview), ABI3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.49209210G>A, NC_000017.11:g.49209210G>T, NC_000017.10:g.47286572G>A, NC_000017.10:g.47286572G>T, NG_009841.1:g.5172C>T, NG_009841.1:g.5172C>A, NM_031498.2:c.-136C>T, NM_031498.2:c.-136C>A

Select item 14858999182.

rs1485899918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:49206480 (GRCh38)
17:47283842 (GRCh37)
Canonical SPDI:: NC_000017.11:49206479:C:A
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49206480C>A, NC_000017.10:g.47283842C>A, NG_009841.1:g.7902G>T, NM_031498.2:c.*277G>T, NM_001198754.2:c.*277G>T, NM_001198754.1:c.*277G>T, NM_001198755.1:c.*277G>T, NM_001198756.1:c.*277G>T

Select item 14853393793.

rs1485339379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49206694 (GRCh38)
17:47284056 (GRCh37)
Canonical SPDI:: NC_000017.11:49206693:G:A
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.49206694G>A, NC_000017.10:g.47284056G>A, NG_009841.1:g.7688C>T, NM_031498.2:c.*63C>T, NM_001198754.2:c.*63C>T, NM_001198754.1:c.*63C>T, NM_001198755.1:c.*63C>T, NM_001198756.1:c.*63C>T

Select item 14833991274.

rs1483399127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49207441 (GRCh38)
17:47284803 (GRCh37)
Canonical SPDI:: NC_000017.11:49207440:G:A,NC_000017.11:49207440:G:T
Gene:: GNGT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.49207441G>A, NC_000017.11:g.49207441G>T, NC_000017.10:g.47284803G>A, NC_000017.10:g.47284803G>T, NG_009841.1:g.6941C>T, NG_009841.1:g.6941C>A, NM_031498.2:c.-19C>T, NM_031498.2:c.-19C>A, NM_001198754.2:c.-19C>T, NM_001198754.2:c.-19C>A, NM_001198754.1:c.-19C>T, NM_001198754.1:c.-19C>A, NM_001198755.1:c.-19C>T, NM_001198755.1:c.-19C>A, NM_001198756.1:c.-19C>T, NM_001198756.1:c.-19C>A

Select item 14755100415.

rs1475510041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49206649 (GRCh38)
17:47284011 (GRCh37)
Canonical SPDI:: NC_000017.11:49206648:A:G
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000094/25 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000017.11:g.49206649A>G, NC_000017.10:g.47284011A>G, NG_009841.1:g.7733T>C, NM_031498.2:c.*108T>C, NM_001198754.2:c.*108T>C, NM_001198754.1:c.*108T>C, NM_001198755.1:c.*108T>C, NM_001198756.1:c.*108T>C

Select item 14717109956.

rs1471710995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49209252 (GRCh38)
17:47286614 (GRCh37)
Canonical SPDI:: NC_000017.11:49209251:T:C
Gene:: GNGT2 (Varview), ABI3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49209252T>C, NC_000017.10:g.47286614T>C, NG_009841.1:g.5130A>G, NM_031498.2:c.-178A>G, NM_001198755.1:c.-142A>G

Select item 14633722197.

rs1463372219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49208951 (GRCh38)
17:47286313 (GRCh37)
Canonical SPDI:: NC_000017.11:49208950:T:C
Gene:: GNGT2 (Varview), ABI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.49208951T>C, NC_000017.10:g.47286313T>C, NG_009841.1:g.5431A>G, NM_031498.2:c.-129A>G, NM_001198754.2:c.-129A>G, NM_001198754.1:c.-129A>G, NM_001198755.1:c.-129A>G, NM_001198756.1:c.-129A>G

Select item 14591462838.

rs1459146283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:49206245 (GRCh38)
17:47283607 (GRCh37)
Canonical SPDI:: NC_000017.11:49206244:C:A
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.49206245C>A, NC_000017.10:g.47283607C>A, NG_009841.1:g.8137G>T, NM_031498.2:c.*512G>T, NM_001198754.2:c.*512G>T, NM_001198754.1:c.*512G>T, NM_001198755.1:c.*512G>T, NM_001198756.1:c.*512G>T

Select item 14489722389.

rs1448972238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49207362 (GRCh38)
17:47284724 (GRCh37)
Canonical SPDI:: NC_000017.11:49207361:C:T
Gene:: GNGT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.49207362C>T, NC_000017.10:g.47284724C>T, NG_009841.1:g.7020G>A, NM_031498.2:c.61G>A, NM_001198754.2:c.61G>A, NM_001198754.1:c.61G>A, NM_001198755.1:c.61G>A, NM_001198756.1:c.61G>A, NP_113686.1:p.Glu21Lys, NP_001185683.1:p.Glu21Lys, NP_001185684.1:p.Glu21Lys, NP_001185685.1:p.Glu21Lys

Select item 144492561210.

rs1444925612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206380 (GRCh38)
17:47283742 (GRCh37)
Canonical SPDI:: NC_000017.11:49206379:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49206380T>C, NC_000017.10:g.47283742T>C, NG_009841.1:g.8002A>G, NM_031498.2:c.*377A>G, NM_001198754.2:c.*377A>G, NM_001198754.1:c.*377A>G, NM_001198755.1:c.*377A>G, NM_001198756.1:c.*377A>G

Select item 143950339511.

rs1439503395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:49206332 (GRCh38)
17:47283694 (GRCh37)
Canonical SPDI:: NC_000017.11:49206331:A:T
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.49206332A>T, NC_000017.10:g.47283694A>T, NG_009841.1:g.8050T>A, NM_031498.2:c.*425T>A, NM_001198754.2:c.*425T>A, NM_001198754.1:c.*425T>A, NM_001198755.1:c.*425T>A, NM_001198756.1:c.*425T>A

Select item 143920178612.

rs1439201786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206318 (GRCh38)
17:47283680 (GRCh37)
Canonical SPDI:: NC_000017.11:49206317:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.49206318T>C, NC_000017.10:g.47283680T>C, NG_009841.1:g.8064A>G, NM_031498.2:c.*439A>G, NM_001198754.2:c.*439A>G, NM_001198754.1:c.*439A>G, NM_001198755.1:c.*439A>G, NM_001198756.1:c.*439A>G

Select item 143775684013.

rs1437756840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206289 (GRCh38)
17:47283651 (GRCh37)
Canonical SPDI:: NC_000017.11:49206288:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49206289T>C, NC_000017.10:g.47283651T>C, NG_009841.1:g.8093A>G, NM_031498.2:c.*468A>G, NM_001198754.2:c.*468A>G, NM_001198754.1:c.*468A>G, NM_001198755.1:c.*468A>G, NM_001198756.1:c.*468A>G

Select item 142402229614.

rs1424022296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49207374 (GRCh38)
17:47284736 (GRCh37)
Canonical SPDI:: NC_000017.11:49207373:G:T
Gene:: GNGT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49207374G>T, NC_000017.10:g.47284736G>T, NG_009841.1:g.7008C>A, NM_031498.2:c.49C>A, NM_001198754.2:c.49C>A, NM_001198754.1:c.49C>A, NM_001198755.1:c.49C>A, NM_001198756.1:c.49C>A, NP_113686.1:p.Gln17Lys, NP_001185683.1:p.Gln17Lys, NP_001185684.1:p.Gln17Lys, NP_001185685.1:p.Gln17Lys

Select item 141935150815.

rs1419351508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49206437 (GRCh38)
17:47283799 (GRCh37)
Canonical SPDI:: NC_000017.11:49206436:T:C
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49206437T>C, NC_000017.10:g.47283799T>C, NG_009841.1:g.7945A>G, NM_031498.2:c.*320A>G, NM_001198754.2:c.*320A>G, NM_001198754.1:c.*320A>G, NM_001198755.1:c.*320A>G, NM_001198756.1:c.*320A>G

Select item 141536235416.

rs1415362354 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:49207383 (GRCh38)
17:47284745 (GRCh37)
Canonical SPDI:: NC_000017.11:49207382:CC:C
Gene:: GNGT2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49207384del, NC_000017.10:g.47284746del, NG_009841.1:g.6999del, NM_031498.2:c.40del, NM_001198754.2:c.40del, NM_001198754.1:c.40del, NM_001198755.1:c.40del, NM_001198756.1:c.40del, NP_113686.1:p.Glu14fs, NP_001185683.1:p.Glu14fs, NP_001185684.1:p.Glu14fs, NP_001185685.1:p.Glu14fs

Select item 141248168417.

rs1412481684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:49206714 (GRCh38)
17:47284076 (GRCh37)
Canonical SPDI:: NC_000017.11:49206713:T:A
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49206714T>A, NC_000017.10:g.47284076T>A, NG_009841.1:g.7668A>T, NM_031498.2:c.*43A>T, NM_001198754.2:c.*43A>T, NM_001198754.1:c.*43A>T, NM_001198755.1:c.*43A>T, NM_001198756.1:c.*43A>T

Select item 140873757618.

rs1408737576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49207442 (GRCh38)
17:47284804 (GRCh37)
Canonical SPDI:: NC_000017.11:49207441:A:G
Gene:: GNGT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49207442A>G, NC_000017.10:g.47284804A>G, NG_009841.1:g.6940T>C, NM_031498.2:c.-20T>C, NM_001198754.2:c.-20T>C, NM_001198754.1:c.-20T>C, NM_001198755.1:c.-20T>C, NM_001198756.1:c.-20T>C

Select item 140873548419.

rs1408735484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49206439 (GRCh38)
17:47283801 (GRCh37)
Canonical SPDI:: NC_000017.11:49206438:C:T
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.49206439C>T, NC_000017.10:g.47283801C>T, NG_009841.1:g.7943G>A, NM_031498.2:c.*318G>A, NM_001198754.2:c.*318G>A, NM_001198754.1:c.*318G>A, NM_001198755.1:c.*318G>A, NM_001198756.1:c.*318G>A

Select item 140636729720.

rs1406367297 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:49206528 (GRCh38)
17:47283890 (GRCh37)
Canonical SPDI:: NC_000017.11:49206527:T:
Gene:: GNGT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000068/18 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.49206528del, NC_000017.10:g.47283890del, NG_009841.1:g.7854del, NM_031498.2:c.*229del, NM_001198754.2:c.*229del, NM_001198754.1:c.*229del, NM_001198755.1:c.*229del, NM_001198756.1:c.*229del

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