SNP Links for Gene (Select 9440) - SNP

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Select item 14915634701.

rs1491563470 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:93787984 (GRCh38)
11:93521151 (GRCh37)
Canonical SPDI:: NC_000011.10:93787984:C:CC
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93787985dup, NC_000011.9:g.93521151dup, NG_028028.1:g.8747dup

Select item 14915023032.

rs1491502303 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:93800628 (GRCh38)
11:93533794 (GRCh37)
Canonical SPDI:: NC_000011.10:93800627:CA:
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.93800628_93800629del, NC_000011.9:g.93533794_93533795del, NG_028028.1:g.21390_21391del

Select item 14914790173.

rs1491479017 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:93808369 (GRCh38)
11:93541535 (GRCh37)
Canonical SPDI:: NC_000011.10:93808368:TA:
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00032/5 (TOMMO)
HGVS:: NC_000011.10:g.93808369_93808370del, NC_000011.9:g.93541535_93541536del, NG_028028.1:g.29131_29132del

Select item 14913328334.

rs1491332833 has merged into rs35380211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:93800641 (GRCh38)
11:93533807 (GRCh37)
Canonical SPDI:: NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93800628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.93800641_93800648del, NC_000011.10:g.93800644_93800648del, NC_000011.10:g.93800645_93800648del, NC_000011.10:g.93800646_93800648del, NC_000011.10:g.93800647_93800648del, NC_000011.10:g.93800648del, NC_000011.10:g.93800648dup, NC_000011.10:g.93800647_93800648dup, NC_000011.10:g.93800645_93800648dup, NC_000011.9:g.93533807_93533814del, NC_000011.9:g.93533810_93533814del, NC_000011.9:g.93533811_93533814del, NC_000011.9:g.93533812_93533814del, NC_000011.9:g.93533813_93533814del, NC_000011.9:g.93533814del, NC_000011.9:g.93533814dup, NC_000011.9:g.93533813_93533814dup, NC_000011.9:g.93533811_93533814dup, NG_028028.1:g.21403_21410del, NG_028028.1:g.21406_21410del, NG_028028.1:g.21407_21410del, NG_028028.1:g.21408_21410del, NG_028028.1:g.21409_21410del, NG_028028.1:g.21410del, NG_028028.1:g.21410dup, NG_028028.1:g.21409_21410dup, NG_028028.1:g.21407_21410dup

Select item 14911633965.

rs1491163396 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TAAAA [Show Flanks]
Chromosome:: 11:93808369 (GRCh38)
11:93541536 (GRCh37)
Canonical SPDI:: NC_000011.10:93808369::TA,NC_000011.10:93808369::TAAAA
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAAA=0./0 (ALFA)
TAAAA=0.000004/1 (TOPMED)
TA=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.93808369_93808370insTA, NC_000011.10:g.93808369_93808370insTAAAA, NC_000011.9:g.93541535_93541536insTA, NC_000011.9:g.93541535_93541536insTAAAA, NG_028028.1:g.29131_29132insTA, NG_028028.1:g.29131_29132insTAAAA

Select item 14910857846.

rs1491085784 has merged into rs11405005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:93788688 (GRCh38)
11:93521854 (GRCh37)
Canonical SPDI:: NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:93788680:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.446086/2234 (1000Genomes)
HGVS:: NC_000011.10:g.93788688_93788697del, NC_000011.10:g.93788690_93788697del, NC_000011.10:g.93788691_93788697del, NC_000011.10:g.93788692_93788697del, NC_000011.10:g.93788693_93788697del, NC_000011.10:g.93788694_93788697del, NC_000011.10:g.93788695_93788697del, NC_000011.10:g.93788696_93788697del, NC_000011.10:g.93788697del, NC_000011.10:g.93788697dup, NC_000011.10:g.93788696_93788697dup, NC_000011.10:g.93788695_93788697dup, NC_000011.10:g.93788694_93788697dup, NC_000011.10:g.93788693_93788697dup, NC_000011.9:g.93521854_93521863del, NC_000011.9:g.93521856_93521863del, NC_000011.9:g.93521857_93521863del, NC_000011.9:g.93521858_93521863del, NC_000011.9:g.93521859_93521863del, NC_000011.9:g.93521860_93521863del, NC_000011.9:g.93521861_93521863del, NC_000011.9:g.93521862_93521863del, NC_000011.9:g.93521863del, NC_000011.9:g.93521863dup, NC_000011.9:g.93521862_93521863dup, NC_000011.9:g.93521861_93521863dup, NC_000011.9:g.93521860_93521863dup, NC_000011.9:g.93521859_93521863dup, NG_028028.1:g.9450_9459del, NG_028028.1:g.9452_9459del, NG_028028.1:g.9453_9459del, NG_028028.1:g.9454_9459del, NG_028028.1:g.9455_9459del, NG_028028.1:g.9456_9459del, NG_028028.1:g.9457_9459del, NG_028028.1:g.9458_9459del, NG_028028.1:g.9459del, NG_028028.1:g.9459dup, NG_028028.1:g.9458_9459dup, NG_028028.1:g.9457_9459dup, NG_028028.1:g.9456_9459dup, NG_028028.1:g.9455_9459dup

Select item 14909448897.

rs1490944889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:93799175 (GRCh38)
11:93532341 (GRCh37)
Canonical SPDI:: NC_000011.10:93799174:G:T
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.93799175G>T, NC_000011.9:g.93532341G>T, NG_028028.1:g.19937G>T

Select item 14908117568.

rs1490811756 has merged into rs71064787 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:93805986 (GRCh38)
11:93539152 (GRCh37)
Canonical SPDI:: NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:93805975:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.93805986_93806000del, NC_000011.10:g.93805988_93806000del, NC_000011.10:g.93805989_93806000del, NC_000011.10:g.93805990_93806000del, NC_000011.10:g.93805991_93806000del, NC_000011.10:g.93805992_93806000del, NC_000011.10:g.93805994_93806000del, NC_000011.10:g.93805995_93806000del, NC_000011.10:g.93805996_93806000del, NC_000011.10:g.93805997_93806000del, NC_000011.10:g.93805998_93806000del, NC_000011.10:g.93805999_93806000del, NC_000011.10:g.93806000del, NC_000011.10:g.93806000dup, NC_000011.10:g.93805999_93806000dup, NC_000011.10:g.93805998_93806000dup, NC_000011.10:g.93805997_93806000dup, NC_000011.10:g.93805996_93806000dup, NC_000011.10:g.93805995_93806000dup, NC_000011.10:g.93805994_93806000dup, NC_000011.10:g.93805993_93806000dup, NC_000011.10:g.93805992_93806000dup, NC_000011.10:g.93805990_93806000dup, NC_000011.10:g.93805989_93806000dup, NC_000011.10:g.93805976_93806000dup, NC_000011.10:g.93806000_93806001insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93539152_93539166del, NC_000011.9:g.93539154_93539166del, NC_000011.9:g.93539155_93539166del, NC_000011.9:g.93539156_93539166del, NC_000011.9:g.93539157_93539166del, NC_000011.9:g.93539158_93539166del, NC_000011.9:g.93539160_93539166del, NC_000011.9:g.93539161_93539166del, NC_000011.9:g.93539162_93539166del, NC_000011.9:g.93539163_93539166del, NC_000011.9:g.93539164_93539166del, NC_000011.9:g.93539165_93539166del, NC_000011.9:g.93539166del, NC_000011.9:g.93539166dup, NC_000011.9:g.93539165_93539166dup, NC_000011.9:g.93539164_93539166dup, NC_000011.9:g.93539163_93539166dup, NC_000011.9:g.93539162_93539166dup, NC_000011.9:g.93539161_93539166dup, NC_000011.9:g.93539160_93539166dup, NC_000011.9:g.93539159_93539166dup, NC_000011.9:g.93539158_93539166dup, NC_000011.9:g.93539156_93539166dup, NC_000011.9:g.93539155_93539166dup, NC_000011.9:g.93539142_93539166dup, NC_000011.9:g.93539166_93539167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028028.1:g.26748_26762del, NG_028028.1:g.26750_26762del, NG_028028.1:g.26751_26762del, NG_028028.1:g.26752_26762del, NG_028028.1:g.26753_26762del, NG_028028.1:g.26754_26762del, NG_028028.1:g.26756_26762del, NG_028028.1:g.26757_26762del, NG_028028.1:g.26758_26762del, NG_028028.1:g.26759_26762del, NG_028028.1:g.26760_26762del, NG_028028.1:g.26761_26762del, NG_028028.1:g.26762del, NG_028028.1:g.26762dup, NG_028028.1:g.26761_26762dup, NG_028028.1:g.26760_26762dup, NG_028028.1:g.26759_26762dup, NG_028028.1:g.26758_26762dup, NG_028028.1:g.26757_26762dup, NG_028028.1:g.26756_26762dup, NG_028028.1:g.26755_26762dup, NG_028028.1:g.26754_26762dup, NG_028028.1:g.26752_26762dup, NG_028028.1:g.26751_26762dup, NG_028028.1:g.26738_26762dup, NG_028028.1:g.26762_26763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14907857789.

rs1490785778 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:93805160 (GRCh38)
11:93538326 (GRCh37)
Canonical SPDI:: NC_000011.10:93805159:G:
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.93805160del, NC_000011.9:g.93538326del, NG_028028.1:g.25922del

Select item 149071410010.

rs1490714100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:93805048 (GRCh38)
11:93538214 (GRCh37)
Canonical SPDI:: NC_000011.10:93805047:A:G
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93805048A>G, NC_000011.9:g.93538214A>G, NG_028028.1:g.25810A>G

Select item 149062511211.

rs1490625112 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149038109812.

rs1490381098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93783182 (GRCh38)
11:93516348 (GRCh37)
Canonical SPDI:: NC_000011.10:93783181:G:A
Gene:: MED17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93783182G>A, NC_000011.9:g.93516348G>A, NG_028028.1:g.3944G>A

Select item 149032163313.

rs1490321633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93805621 (GRCh38)
11:93538787 (GRCh37)
Canonical SPDI:: NC_000011.10:93805620:C:T
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.93805621C>T, NC_000011.9:g.93538787C>T, NG_028028.1:g.26383C>T

Select item 149022497714.

rs1490224977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:93804594 (GRCh38)
11:93537760 (GRCh37)
Canonical SPDI:: NC_000011.10:93804593:C:G
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.93804594C>G, NC_000011.9:g.93537760C>G, NG_028028.1:g.25356C>G

Select item 149012975815.

rs1490129758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:93790163 (GRCh38)
11:93523329 (GRCh37)
Canonical SPDI:: NC_000011.10:93790162:T:A
Gene:: MED17 (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.93790163T>A, NC_000011.9:g.93523329T>A, NG_028028.1:g.10925T>A

Select item 148999543416.

rs1489995434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93792849 (GRCh38)
11:93526015 (GRCh37)
Canonical SPDI:: NC_000011.10:93792848:G:A
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.93792849G>A, NC_000011.9:g.93526015G>A, NG_028028.1:g.13611G>A

Select item 148979110817.

rs1489791108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93809542 (GRCh38)
11:93542708 (GRCh37)
Canonical SPDI:: NC_000011.10:93809541:G:A
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.93809542G>A, NC_000011.9:g.93542708G>A, NG_028028.1:g.30304G>A

Select item 148968398018.

rs1489683980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:93803940 (GRCh38)
11:93537106 (GRCh37)
Canonical SPDI:: NC_000011.10:93803939:G:T
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.93803940G>T, NC_000011.9:g.93537106G>T, NG_028028.1:g.24702G>T

Select item 148966259119.

rs1489662591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:93804128 (GRCh38)
11:93537294 (GRCh37)
Canonical SPDI:: NC_000011.10:93804127:T:C
Gene:: MED17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.93804128T>C, NC_000011.9:g.93537294T>C, NG_028028.1:g.24890T>C

Select item 148947699120.

rs1489476991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93789746 (GRCh38)
11:93522912 (GRCh37)
Canonical SPDI:: NC_000011.10:93789745:G:A
Gene:: MED17 (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.93789746G>A, NC_000011.9:g.93522912G>A, NG_028028.1:g.10508G>A

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