SNP Links for Gene (Select 4246) - SNP

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Select item 14915643761.

rs1491564376 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACATATG [Show Flanks]
Chromosome:: 11:62212934 (GRCh38)
11:61980407 (GRCh37)
Canonical SPDI:: NC_000011.10:62212934:CACACATATG:CACACATATGCACACATATG
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACATATGCACACATATG=0./0 (ALFA)
CACACATATG=0.000065/8 (GnomAD)
HGVS:: NC_000011.10:g.62212935_62212944dup, NC_000011.9:g.61980407_61980416dup

Select item 14914177012.

rs1491417701 has merged into rs1554985897 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 11:62213106 (GRCh38)
11:61980578 (GRCh37)
Canonical SPDI:: NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATAT,NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATATATAT,NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATATATATAT,NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000011.10:62213091:ATATATATATATATAT:ATATATATATATATATATATATATATAT
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000011.10:g.62213092AT[7], NC_000011.10:g.62213092AT[9], NC_000011.10:g.62213092AT[10], NC_000011.10:g.62213092AT[11], NC_000011.10:g.62213092AT[12], NC_000011.10:g.62213092AT[14], NC_000011.9:g.61980564AT[7], NC_000011.9:g.61980564AT[9], NC_000011.9:g.61980564AT[10], NC_000011.9:g.61980564AT[11], NC_000011.9:g.61980564AT[12], NC_000011.9:g.61980564AT[14]

Select item 14914076163.

rs1491407616 has merged into rs367585318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 11:62213089 (GRCh38)
11:61980561 (GRCh37)
Canonical SPDI:: NC_000011.10:62213087:ACACA:A,NC_000011.10:62213087:ACACA:ACA,NC_000011.10:62213087:ACACA:ACACACA,NC_000011.10:62213087:ACACA:ACACACACA,NC_000011.10:62213087:ACACA:ACACACACACA
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000011.10:g.62213089_62213092del, NC_000011.10:g.62213089CA[1], NC_000011.10:g.62213089CA[3], NC_000011.10:g.62213089CA[4], NC_000011.10:g.62213089CA[5], NC_000011.9:g.61980561_61980564del, NC_000011.9:g.61980561CA[1], NC_000011.9:g.61980561CA[3], NC_000011.9:g.61980561CA[4], NC_000011.9:g.61980561CA[5]

Select item 14913984074.

rs1491398407 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 14913035725.

rs1491303572 has merged into rs1554985926 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:62213115 (GRCh38)
11:61980587 (GRCh37)
Canonical SPDI:: NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62213106:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTT=0.06168/1741 (TOMMO)
TTTTTTTTT=0.275/11 (GENOME_DK)
HGVS:: NC_000011.10:g.62213115_62213117del, NC_000011.10:g.62213116_62213117del, NC_000011.10:g.62213117del, NC_000011.10:g.62213117dup, NC_000011.10:g.62213116_62213117dup, NC_000011.10:g.62213115_62213117dup, NC_000011.10:g.62213114_62213117dup, NC_000011.10:g.62213113_62213117dup, NC_000011.10:g.62213112_62213117dup, NC_000011.10:g.62213111_62213117dup, NC_000011.10:g.62213110_62213117dup, NC_000011.10:g.62213109_62213117dup, NC_000011.10:g.62213108_62213117dup, NC_000011.10:g.62213107_62213117dup, NC_000011.10:g.62213117_62213118insTTTTTTTTTTTT, NC_000011.9:g.61980587_61980589del, NC_000011.9:g.61980588_61980589del, NC_000011.9:g.61980589del, NC_000011.9:g.61980589dup, NC_000011.9:g.61980588_61980589dup, NC_000011.9:g.61980587_61980589dup, NC_000011.9:g.61980586_61980589dup, NC_000011.9:g.61980585_61980589dup, NC_000011.9:g.61980584_61980589dup, NC_000011.9:g.61980583_61980589dup, NC_000011.9:g.61980582_61980589dup, NC_000011.9:g.61980581_61980589dup, NC_000011.9:g.61980580_61980589dup, NC_000011.9:g.61980579_61980589dup, NC_000011.9:g.61980589_61980590insTTTTTTTTTTTT

Select item 14912908326.

rs1491290832 has merged into rs5792248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:62210936 (GRCh38)
11:61978408 (GRCh37)
Canonical SPDI:: NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:62210923:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3057/1531 (1000Genomes)
HGVS:: NC_000011.10:g.62210936_62210940del, NC_000011.10:g.62210937_62210940del, NC_000011.10:g.62210938_62210940del, NC_000011.10:g.62210939_62210940del, NC_000011.10:g.62210940del, NC_000011.10:g.62210940dup, NC_000011.10:g.62210939_62210940dup, NC_000011.10:g.62210933_62210940dup, NC_000011.9:g.61978408_61978412del, NC_000011.9:g.61978409_61978412del, NC_000011.9:g.61978410_61978412del, NC_000011.9:g.61978411_61978412del, NC_000011.9:g.61978412del, NC_000011.9:g.61978412dup, NC_000011.9:g.61978411_61978412dup, NC_000011.9:g.61978405_61978412dup

Select item 14911401047.

rs1491140104 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:62210858 (GRCh38)
11:61978330 (GRCh37)
Canonical SPDI:: NC_000011.10:62210853:CACACA:CACA
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000011.10:g.62210854CA[2], NC_000011.9:g.61978326CA[2]

Select item 14911373418.

rs1491137341 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACACA [Show Flanks]
Chromosome:: 11:62212939 (GRCh38)
11:61980411 (GRCh37)
Canonical SPDI:: NC_000011.10:62212933:ACACACA:ACACA,NC_000011.10:62212933:ACACACA:ACACACACACA
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
ACAC=0.000004/1 (TOPMED)
-=0.000048/6 (GnomAD)
HGVS:: NC_000011.10:g.62212935CA[2], NC_000011.10:g.62212935CA[5], NC_000011.9:g.61980407CA[2], NC_000011.9:g.61980407CA[5]

Select item 14911115439.

rs1491111543 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:62210923 (GRCh38)
11:61978395 (GRCh37)
Canonical SPDI:: NC_000011.10:62210922:AT:
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.62210923_62210924del, NC_000011.9:g.61978395_61978396del

Select item 149107669710.

rs1491076697 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:62210408 (GRCh38)
11:61977880 (GRCh37)
Canonical SPDI:: NC_000011.10:62210407:TC:
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.62210408_62210409del, NC_000011.9:g.61977880_61977881del

Select item 149103304711.

rs1491033047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATATATA [Show Flanks]
Chromosome:: 11:62213065 (GRCh38)
11:61980537 (GRCh37)
Canonical SPDI:: NC_000011.10:62213063:ATATATA:A,NC_000011.10:62213063:ATATATA:ATATATATA
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
-=0.00031/15 (GnomAD)
-=0.0006/10 (TOMMO)
HGVS:: NC_000011.10:g.62213065_62213070del, NC_000011.10:g.62213065TA[4], NC_000011.9:g.61980537_61980542del, NC_000011.9:g.61980537TA[4]

Select item 149066657312.

rs1490666573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62208076 (GRCh38)
11:61975548 (GRCh37)
Canonical SPDI:: NC_000011.10:62208075:C:A,NC_000011.10:62208075:C:T
Gene:: SCGB2A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.62208076C>A, NC_000011.10:g.62208076C>T, NC_000011.9:g.61975548C>A, NC_000011.9:g.61975548C>T

Select item 149062165713.

rs1490621657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62207086 (GRCh38)
11:61974558 (GRCh37)
Canonical SPDI:: NC_000011.10:62207085:C:T
Gene:: SCGB2A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62207086C>T, NC_000011.9:g.61974558C>T

Select item 149057418814.

rs1490574188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62208941 (GRCh38)
11:61976413 (GRCh37)
Canonical SPDI:: NC_000011.10:62208940:T:A
Gene:: SCGB2A1 (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_000011.10:g.62208941T>A, NC_000011.9:g.61976413T>A

Select item 149035550615.

rs1490355506 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGTGTTTCACTCTCCACA>- [Show Flanks]
Chromosome:: 11:62214157 (GRCh38)
11:61981629 (GRCh37)
Canonical SPDI:: NC_000011.10:62214155:AGAGTGTTTCACTCTCCACA:A
Gene:: SCGB2A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62214157_62214175del, NC_000011.9:g.61981629_61981647del

Select item 149017726316.

rs1490177263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62208560 (GRCh38)
11:61976032 (GRCh37)
Canonical SPDI:: NC_000011.10:62208559:G:C
Gene:: SCGB2A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62208560G>C, NC_000011.9:g.61976032G>C

Select item 148957933717.

rs1489579337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:62208930 (GRCh38)
11:61976402 (GRCh37)
Canonical SPDI:: NC_000011.10:62208929:G:T
Gene:: SCGB2A1 (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_000011.10:g.62208930G>T, NC_000011.9:g.61976402G>T

Select item 148949349918.

rs1489493499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62209634 (GRCh38)
11:61977106 (GRCh37)
Canonical SPDI:: NC_000011.10:62209633:C:T
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.62209634C>T, NC_000011.9:g.61977106C>T

Select item 148866941619.

rs1488669416 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACATATACACA [Show Flanks]
Chromosome:: 11:62213023 (GRCh38)
11:61980495 (GRCh37)
Canonical SPDI:: NC_000011.10:62213021:ACA:A,NC_000011.10:62213021:ACA:ACACA,NC_000011.10:62213021:ACA:ACACATATACACA
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
ACACATATAC=0.000004/1 (TOPMED)
AC=0.00046/8 (TOMMO)
AC=0.00066/42 (GnomAD)
HGVS:: NC_000011.10:g.62213023_62213024del, NC_000011.10:g.62213023_62213024dup, NC_000011.10:g.62213022_62213024AC[2]AT[2]AC[2]A[1], NC_000011.9:g.61980495_61980496del, NC_000011.9:g.61980495_61980496dup, NC_000011.9:g.61980494_61980496AC[2]AT[2]AC[2]A[1]

Select item 148856379920.

rs1488563799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62211753 (GRCh38)
11:61979225 (GRCh37)
Canonical SPDI:: NC_000011.10:62211752:A:G
Gene:: SCGB2A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.62211753A>G, NC_000011.9:g.61979225A>G

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