SNP Links for Nucleotide (Select 1047225913) - SNP

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Select item 14914705981.

rs1491470598 has merged into rs906697354 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTTT,TTTTTT [Show Flanks]
Chromosome:: 9:136385571 (GRCh38)
9:139280023 (GRCh37)
Canonical SPDI:: NC_000009.12:136385567:TTTTTTTT:TTT,NC_000009.12:136385567:TTTTTTTT:TTTT,NC_000009.12:136385567:TTTTTTTT:TTTTTTT,NC_000009.12:136385567:TTTTTTTT:TTTTTTTTT
Gene:: SNAPC4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.00006/1 (TOMMO)
HGVS:: NC_000009.12:g.136385571_136385575del, NC_000009.12:g.136385572_136385575del, NC_000009.12:g.136385575del, NC_000009.12:g.136385575dup, NC_000009.11:g.139280023_139280027del, NC_000009.11:g.139280024_139280027del, NC_000009.11:g.139280027del, NC_000009.11:g.139280027dup, NG_051233.1:g.19649_19653del, NG_051233.1:g.19650_19653del, NG_051233.1:g.19653del, NG_051233.1:g.19653dup

Select item 14912765162.

rs1491276516 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:136377632 (GRCh38)
9:139272084 (GRCh37)
Canonical SPDI:: NC_000009.12:136377631:CA:
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136377632_136377633del, NC_000009.11:g.139272084_139272085del, NG_051233.1:g.27588_27589del, NM_003086.4:c.4194_4195del, NM_003086.3:c.4194_4195del, NM_003086.2:c.4194_4195del, NM_001394201.1:c.4194_4195del, NM_001394202.1:c.4110_4111del, NM_001394203.1:c.4110_4111del, NG_021197.1:g.1049_1050del, XM_006717242.5:c.4194_4195del, XM_006717242.4:c.4194_4195del, XM_006717242.3:c.4194_4195del, XM_006717242.2:c.4194_4195del, XM_006717242.1:c.4194_4195del, XM_006717244.3:c.2406_2407del, XM_006717244.2:c.2406_2407del, XM_006717244.1:c.2406_2407del, XM_047423780.1:c.4110_4111del, NP_003077.2:p.Glu1399_Ser1400insTer, NP_001381130.1:p.Glu1399_Ser1400insTer, NP_001381131.1:p.Glu1371_Ser1372insTer, NP_001381132.1:p.Glu1371_Ser1372insTer, XP_006717305.1:p.Glu1399_Ser1400insTer, XP_006717307.1:p.Glu803_Ser804insTer, XP_047279736.1:p.Glu1371_Ser1372insTer

Select item 14912549163.

rs1491254916 has merged into rs58732608 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:136390562 (GRCh38)
9:139285014 (GRCh37)
Canonical SPDI:: NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:136390554:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.136390562_136390578del, NC_000009.12:g.136390564_136390578del, NC_000009.12:g.136390565_136390578del, NC_000009.12:g.136390566_136390578del, NC_000009.12:g.136390567_136390578del, NC_000009.12:g.136390568_136390578del, NC_000009.12:g.136390569_136390578del, NC_000009.12:g.136390570_136390578del, NC_000009.12:g.136390571_136390578del, NC_000009.12:g.136390572_136390578del, NC_000009.12:g.136390573_136390578del, NC_000009.12:g.136390575_136390578del, NC_000009.12:g.136390576_136390578del, NC_000009.12:g.136390577_136390578del, NC_000009.12:g.136390578del, NC_000009.12:g.136390578dup, NC_000009.12:g.136390577_136390578dup, NC_000009.12:g.136390576_136390578dup, NC_000009.12:g.136390575_136390578dup, NC_000009.12:g.136390573_136390578dup, NC_000009.12:g.136390569_136390578dup, NC_000009.12:g.136390567_136390578dup, NC_000009.12:g.136390566_136390578dup, NC_000009.11:g.139285014_139285030del, NC_000009.11:g.139285016_139285030del, NC_000009.11:g.139285017_139285030del, NC_000009.11:g.139285018_139285030del, NC_000009.11:g.139285019_139285030del, NC_000009.11:g.139285020_139285030del, NC_000009.11:g.139285021_139285030del, NC_000009.11:g.139285022_139285030del, NC_000009.11:g.139285023_139285030del, NC_000009.11:g.139285024_139285030del, NC_000009.11:g.139285025_139285030del, NC_000009.11:g.139285027_139285030del, NC_000009.11:g.139285028_139285030del, NC_000009.11:g.139285029_139285030del, NC_000009.11:g.139285030del, NC_000009.11:g.139285030dup, NC_000009.11:g.139285029_139285030dup, NC_000009.11:g.139285028_139285030dup, NC_000009.11:g.139285027_139285030dup, NC_000009.11:g.139285025_139285030dup, NC_000009.11:g.139285021_139285030dup, NC_000009.11:g.139285019_139285030dup, NC_000009.11:g.139285018_139285030dup, NG_051233.1:g.14650_14666del, NG_051233.1:g.14652_14666del, NG_051233.1:g.14653_14666del, NG_051233.1:g.14654_14666del, NG_051233.1:g.14655_14666del, NG_051233.1:g.14656_14666del, NG_051233.1:g.14657_14666del, NG_051233.1:g.14658_14666del, NG_051233.1:g.14659_14666del, NG_051233.1:g.14660_14666del, NG_051233.1:g.14661_14666del, NG_051233.1:g.14663_14666del, NG_051233.1:g.14664_14666del, NG_051233.1:g.14665_14666del, NG_051233.1:g.14666del, NG_051233.1:g.14666dup, NG_051233.1:g.14665_14666dup, NG_051233.1:g.14664_14666dup, NG_051233.1:g.14663_14666dup, NG_051233.1:g.14661_14666dup, NG_051233.1:g.14657_14666dup, NG_051233.1:g.14655_14666dup, NG_051233.1:g.14654_14666dup

Select item 14912220144.

rs1491222014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:136377632 (GRCh38)
9:139272085 (GRCh37)
Canonical SPDI:: NC_000009.12:136377632:A:AA
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136377633dup, NC_000009.11:g.139272085dup, NG_051233.1:g.27588dup, NM_003086.4:c.4194dup, NM_003086.3:c.4194dup, NM_003086.2:c.4194dup, NM_001394201.1:c.4194dup, NM_001394202.1:c.4110dup, NM_001394203.1:c.4110dup, NG_021197.1:g.1049dup, XM_006717242.5:c.4194dup, XM_006717242.4:c.4194dup, XM_006717242.3:c.4194dup, XM_006717242.2:c.4194dup, XM_006717242.1:c.4194dup, XM_006717244.3:c.2406dup, XM_006717244.2:c.2406dup, XM_006717244.1:c.2406dup, XM_047423780.1:c.4110dup, NP_003077.2:p.Glu1399Ter, NP_001381130.1:p.Glu1399Ter, NP_001381131.1:p.Glu1371Ter, NP_001381132.1:p.Glu1371Ter, XP_006717305.1:p.Glu1399Ter, XP_006717307.1:p.Glu803Ter, XP_047279736.1:p.Glu1371Ter

Select item 14907098915.

rs1490709891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136394675 (GRCh38)
9:139289127 (GRCh37)
Canonical SPDI:: NC_000009.12:136394674:G:A
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136394675G>A, NC_000009.11:g.139289127G>A, NG_051233.1:g.10546C>T

Select item 14906404596.

rs1490640459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136377579 (GRCh38)
9:139272031 (GRCh37)
Canonical SPDI:: NC_000009.12:136377578:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136377579C>T, NC_000009.11:g.139272031C>T, NG_051233.1:g.27642G>A, NM_003086.4:c.4248G>A, NM_003086.3:c.4248G>A, NM_003086.2:c.4248G>A, NM_001394201.1:c.4248G>A, NM_001394202.1:c.4164G>A, NM_001394203.1:c.4164G>A, NG_021197.1:g.1103G>A, XM_006717242.5:c.4248G>A, XM_006717242.4:c.4248G>A, XM_006717242.3:c.4248G>A, XM_006717242.2:c.4248G>A, XM_006717242.1:c.4248G>A, XM_006717244.3:c.2460G>A, XM_006717244.2:c.2460G>A, XM_006717244.1:c.2460G>A, XM_047423780.1:c.4164G>A

Select item 14903409297.

rs1490340929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136384921 (GRCh38)
9:139279373 (GRCh37)
Canonical SPDI:: NC_000009.12:136384920:C:G
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136384921C>G, NC_000009.11:g.139279373C>G, NG_051233.1:g.20300G>C

Select item 14901555588.

rs1490155558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136400755 (GRCh38)
9:139295207 (GRCh37)
Canonical SPDI:: NC_000009.12:136400754:G:A
Gene:: SNAPC4 (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_000009.12:g.136400755G>A, NC_000009.11:g.139295207G>A, NG_051233.1:g.4466C>T

Select item 14901419539.

rs1490141953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136390484 (GRCh38)
9:139284936 (GRCh37)
Canonical SPDI:: NC_000009.12:136390483:G:A
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136390484G>A, NC_000009.11:g.139284936G>A, NG_051233.1:g.14737C>T

Select item 149008664810.

rs1490086648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136393738 (GRCh38)
9:139288190 (GRCh37)
Canonical SPDI:: NC_000009.12:136393737:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000009.12:g.136393738C>T, NC_000009.11:g.139288190C>T, NG_051233.1:g.11483G>A

Select item 149003972811.

rs1490039728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136387564 (GRCh38)
9:139282016 (GRCh37)
Canonical SPDI:: NC_000009.12:136387563:C:A,NC_000009.12:136387563:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136387564C>A, NC_000009.12:g.136387564C>T, NC_000009.11:g.139282016C>A, NC_000009.11:g.139282016C>T, NG_051233.1:g.17657G>T, NG_051233.1:g.17657G>A, NM_003086.4:c.1246G>T, NM_003086.4:c.1246G>A, NM_003086.3:c.1246G>T, NM_003086.3:c.1246G>A, NM_003086.2:c.1246G>T, NM_003086.2:c.1246G>A, NM_001394201.1:c.1246G>T, NM_001394201.1:c.1246G>A, NM_001394202.1:c.1246G>T, NM_001394202.1:c.1246G>A, NM_001394203.1:c.1246G>T, NM_001394203.1:c.1246G>A, XM_006717242.5:c.1246G>T, XM_006717242.5:c.1246G>A, XM_006717242.4:c.1246G>T, XM_006717242.4:c.1246G>A, XM_006717242.3:c.1246G>T, XM_006717242.3:c.1246G>A, XM_006717242.2:c.1246G>T, XM_006717242.2:c.1246G>A, XM_006717242.1:c.1246G>T, XM_006717242.1:c.1246G>A, XM_047423780.1:c.1246G>T, XM_047423780.1:c.1246G>A, XM_047423781.1:c.1246G>T, XM_047423781.1:c.1246G>A, XM_047423782.1:c.1246G>T, XM_047423782.1:c.1246G>A, NP_003077.2:p.Val416Phe, NP_003077.2:p.Val416Ile, NP_001381130.1:p.Val416Phe, NP_001381130.1:p.Val416Ile, NP_001381131.1:p.Val416Phe, NP_001381131.1:p.Val416Ile, NP_001381132.1:p.Val416Phe, NP_001381132.1:p.Val416Ile, XP_006717305.1:p.Val416Phe, XP_006717305.1:p.Val416Ile, XP_047279736.1:p.Val416Phe, XP_047279736.1:p.Val416Ile, XP_047279737.1:p.Val416Phe, XP_047279737.1:p.Val416Ile, XP_047279738.1:p.Val416Phe, XP_047279738.1:p.Val416Ile

Select item 148997995812.

rs1489979958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:136390716 (GRCh38)
9:139285169 (GRCh37)
Canonical SPDI:: NC_000009.12:136390716:AAAAAA:AAAAAAA
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136390722dup, NC_000009.11:g.139285174dup, NG_051233.1:g.14504dup

Select item 148994370313.

rs1489943703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136390132 (GRCh38)
9:139284584 (GRCh37)
Canonical SPDI:: NC_000009.12:136390131:C:A,NC_000009.12:136390131:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136390132C>A, NC_000009.12:g.136390132C>T, NC_000009.11:g.139284584C>A, NC_000009.11:g.139284584C>T, NG_051233.1:g.15089G>T, NG_051233.1:g.15089G>A

Select item 148987031114.

rs1489870311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136378449 (GRCh38)
9:139272901 (GRCh37)
Canonical SPDI:: NC_000009.12:136378448:C:G
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136378449C>G, NC_000009.11:g.139272901C>G, NG_051233.1:g.26772G>C, NM_003086.4:c.3378G>C, NM_003086.3:c.3378G>C, NM_003086.2:c.3378G>C, NM_001394201.1:c.3378G>C, NM_001394202.1:c.3294G>C, NM_001394203.1:c.3294G>C, NG_021197.1:g.233G>C, XM_006717242.5:c.3378G>C, XM_006717242.4:c.3378G>C, XM_006717242.3:c.3378G>C, XM_006717242.2:c.3378G>C, XM_006717242.1:c.3378G>C, XM_006717244.3:c.1590G>C, XM_006717244.2:c.1590G>C, XM_006717244.1:c.1590G>C, XM_047423780.1:c.3294G>C, XM_047423781.1:c.*262G>C, NP_003077.2:p.Arg1126Ser, NP_001381130.1:p.Arg1126Ser, NP_001381131.1:p.Arg1098Ser, NP_001381132.1:p.Arg1098Ser, XP_006717305.1:p.Arg1126Ser, XP_006717307.1:p.Arg530Ser, XP_047279736.1:p.Arg1098Ser

Select item 148975612915.

rs1489756129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136396080 (GRCh38)
9:139290532 (GRCh37)
Canonical SPDI:: NC_000009.12:136396079:T:C
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000009.12:g.136396080T>C, NC_000009.11:g.139290532T>C, NG_051233.1:g.9141A>G

Select item 148954193316.

rs1489541933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136390154 (GRCh38)
9:139284606 (GRCh37)
Canonical SPDI:: NC_000009.12:136390153:C:T
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136390154C>T, NC_000009.11:g.139284606C>T, NG_051233.1:g.15067G>A

Select item 148931588217.

rs1489315882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136385627 (GRCh38)
9:139280079 (GRCh37)
Canonical SPDI:: NC_000009.12:136385626:C:A
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.136385627C>A, NC_000009.11:g.139280079C>A, NG_051233.1:g.19594G>T

Select item 148925395118.

rs1489253951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136385294 (GRCh38)
9:139279746 (GRCh37)
Canonical SPDI:: NC_000009.12:136385293:G:A,NC_000009.12:136385293:G:C
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.136385294G>A, NC_000009.12:g.136385294G>C, NC_000009.11:g.139279746G>A, NC_000009.11:g.139279746G>C, NG_051233.1:g.19927C>T, NG_051233.1:g.19927C>G

Select item 148925178119.

rs1489251781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136395419 (GRCh38)
9:139289871 (GRCh37)
Canonical SPDI:: NC_000009.12:136395418:T:C
Gene:: SNAPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.136395419T>C, NC_000009.11:g.139289871T>C, NG_051233.1:g.9802A>G, NM_003086.4:c.350A>G, NM_003086.3:c.350A>G, NM_003086.2:c.350A>G, NM_001394201.1:c.350A>G, NM_001394202.1:c.350A>G, NM_001394203.1:c.350A>G, XM_006717242.5:c.350A>G, XM_006717242.4:c.350A>G, XM_006717242.3:c.350A>G, XM_006717242.2:c.350A>G, XM_006717242.1:c.350A>G, XM_047423780.1:c.350A>G, XM_047423781.1:c.350A>G, XM_047423782.1:c.350A>G, NP_003077.2:p.Glu117Gly, NP_001381130.1:p.Glu117Gly, NP_001381131.1:p.Glu117Gly, NP_001381132.1:p.Glu117Gly, XP_006717305.1:p.Glu117Gly, XP_047279736.1:p.Glu117Gly, XP_047279737.1:p.Glu117Gly, XP_047279738.1:p.Glu117Gly

Select item 148922364820.

rs1489223648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136384441 (GRCh38)
9:139278893 (GRCh37)
Canonical SPDI:: NC_000009.12:136384440:G:A
Gene:: SNAPC4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.136384441G>A, NC_000009.11:g.139278893G>A, NG_051233.1:g.20780C>T

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