SNP Links for Gene (Select 9282) - SNP

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Select item 14915572151.

rs1491557215 has merged into rs779386609 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:40668392 (GRCh38)
X:40527644 (GRCh37)
Canonical SPDI:: NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40668383:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.2466/931 (1000Genomes)
HGVS:: NC_000023.11:g.40668392_40668405del, NC_000023.11:g.40668396_40668405del, NC_000023.11:g.40668397_40668405del, NC_000023.11:g.40668399_40668405del, NC_000023.11:g.40668400_40668405del, NC_000023.11:g.40668401_40668405del, NC_000023.11:g.40668403_40668405del, NC_000023.11:g.40668404_40668405del, NC_000023.11:g.40668405del, NC_000023.11:g.40668405dup, NC_000023.11:g.40668404_40668405dup, NC_000023.11:g.40668403_40668405dup, NC_000023.11:g.40668402_40668405dup, NC_000023.11:g.40668401_40668405dup, NC_000023.11:g.40668388_40668405dup, NC_000023.11:g.40668387_40668405dup, NC_000023.11:g.40668385_40668405dup, NC_000023.11:g.40668405_40668406insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.40668405_40668406insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.40668405_40668406insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.40527644_40527657del, NC_000023.10:g.40527648_40527657del, NC_000023.10:g.40527649_40527657del, NC_000023.10:g.40527651_40527657del, NC_000023.10:g.40527652_40527657del, NC_000023.10:g.40527653_40527657del, NC_000023.10:g.40527655_40527657del, NC_000023.10:g.40527656_40527657del, NC_000023.10:g.40527657del, NC_000023.10:g.40527657dup, NC_000023.10:g.40527656_40527657dup, NC_000023.10:g.40527655_40527657dup, NC_000023.10:g.40527654_40527657dup, NC_000023.10:g.40527653_40527657dup, NC_000023.10:g.40527640_40527657dup, NC_000023.10:g.40527639_40527657dup, NC_000023.10:g.40527637_40527657dup, NC_000023.10:g.40527657_40527658insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.40527657_40527658insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.40527657_40527658insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016325.2:g.72762_72775del, NG_016325.2:g.72766_72775del, NG_016325.2:g.72767_72775del, NG_016325.2:g.72769_72775del, NG_016325.2:g.72770_72775del, NG_016325.2:g.72771_72775del, NG_016325.2:g.72773_72775del, NG_016325.2:g.72774_72775del, NG_016325.2:g.72775del, NG_016325.2:g.72775dup, NG_016325.2:g.72774_72775dup, NG_016325.2:g.72773_72775dup, NG_016325.2:g.72772_72775dup, NG_016325.2:g.72771_72775dup, NG_016325.2:g.72758_72775dup, NG_016325.2:g.72757_72775dup, NG_016325.2:g.72755_72775dup, NG_016325.2:g.72775_72776insTTTTTTTTTTTTTTTTTTTTTTT, NG_016325.2:g.72775_72776insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016325.2:g.72775_72776insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016325.1:g.72156_72169del, NG_016325.1:g.72160_72169del, NG_016325.1:g.72161_72169del, NG_016325.1:g.72163_72169del, NG_016325.1:g.72164_72169del, NG_016325.1:g.72165_72169del, NG_016325.1:g.72167_72169del, NG_016325.1:g.72168_72169del, NG_016325.1:g.72169del, NG_016325.1:g.72169dup, NG_016325.1:g.72168_72169dup, NG_016325.1:g.72167_72169dup, NG_016325.1:g.72166_72169dup, NG_016325.1:g.72165_72169dup, NG_016325.1:g.72152_72169dup, NG_016325.1:g.72151_72169dup, NG_016325.1:g.72149_72169dup, NG_016325.1:g.72169_72170insTTTTTTTTTTTTTTTTTTTTTTT, NG_016325.1:g.72169_72170insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016325.1:g.72169_72170insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915314102.

rs1491531410 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:40715785 (GRCh38)
X:40575037 (GRCh37)
Canonical SPDI:: NC_000023.11:40715784:CA:
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.40715785_40715786del, NC_000023.10:g.40575037_40575038del, NG_016325.2:g.25373_25374del, NG_016325.1:g.24767_24768del

Select item 14914852763.

rs1491485276 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:40673846 (GRCh38)
X:40533098 (GRCh37)
Canonical SPDI:: NC_000023.11:40673845:CA:
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00019/3 (ALFA)
-=0.00015/5 (GnomAD)
HGVS:: NC_000023.11:g.40673846_40673847del, NC_000023.10:g.40533098_40533099del, NG_016325.2:g.67312_67313del, NG_016325.1:g.66706_66707del

Select item 14913145034.

rs1491314503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:40715785 (GRCh38)
X:40575038 (GRCh37)
Canonical SPDI:: NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:40715785:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0002/3 (ALFA)
A=0.0097/153 (TOMMO)
HGVS:: NC_000023.11:g.40715812dup, NC_000023.11:g.40715811_40715812dup, NC_000023.11:g.40715810_40715812dup, NC_000023.11:g.40715809_40715812dup, NC_000023.11:g.40715808_40715812dup, NC_000023.11:g.40715807_40715812dup, NC_000023.11:g.40715804_40715812dup, NC_000023.11:g.40715799_40715812dup, NC_000023.11:g.40715787_40715812dup, NC_000023.10:g.40575064dup, NC_000023.10:g.40575063_40575064dup, NC_000023.10:g.40575062_40575064dup, NC_000023.10:g.40575061_40575064dup, NC_000023.10:g.40575060_40575064dup, NC_000023.10:g.40575059_40575064dup, NC_000023.10:g.40575056_40575064dup, NC_000023.10:g.40575051_40575064dup, NC_000023.10:g.40575039_40575064dup, NG_016325.2:g.25373dup, NG_016325.2:g.25372_25373dup, NG_016325.2:g.25371_25373dup, NG_016325.2:g.25370_25373dup, NG_016325.2:g.25369_25373dup, NG_016325.2:g.25368_25373dup, NG_016325.2:g.25365_25373dup, NG_016325.2:g.25360_25373dup, NG_016325.2:g.25348_25373dup, NG_016325.1:g.24767dup, NG_016325.1:g.24766_24767dup, NG_016325.1:g.24765_24767dup, NG_016325.1:g.24764_24767dup, NG_016325.1:g.24763_24767dup, NG_016325.1:g.24762_24767dup, NG_016325.1:g.24759_24767dup, NG_016325.1:g.24754_24767dup, NG_016325.1:g.24742_24767dup

Select item 14912469115.

rs1491246911 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TAT,TATT,TC,TCTTTT,TT,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:40691604 (GRCh38)
X:40550857 (GRCh37)
Canonical SPDI:: NC_000023.11:40691604::C,NC_000023.11:40691604::T,NC_000023.11:40691604::TAT,NC_000023.11:40691604::TATT,NC_000023.11:40691604::TC,NC_000023.11:40691604::TCTTTT,NC_000023.11:40691604::TT,NC_000023.11:40691604::TTT,NC_000023.11:40691604::TTTT,NC_000023.11:40691604::TTTTT
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.40691604_40691605insC, NC_000023.11:g.40691604_40691605insT, NC_000023.11:g.40691604_40691605insTAT, NC_000023.11:g.40691604_40691605insTATT, NC_000023.11:g.40691604_40691605insTC, NC_000023.11:g.40691604_40691605insTCTTTT, NC_000023.11:g.40691604_40691605insTT, NC_000023.11:g.40691604_40691605insTTT, NC_000023.11:g.40691604_40691605insTTTT, NC_000023.11:g.40691604_40691605insTTTTT, NC_000023.10:g.40550856_40550857insC, NC_000023.10:g.40550856_40550857insT, NC_000023.10:g.40550856_40550857insTAT, NC_000023.10:g.40550856_40550857insTATT, NC_000023.10:g.40550856_40550857insTC, NC_000023.10:g.40550856_40550857insTCTTTT, NC_000023.10:g.40550856_40550857insTT, NC_000023.10:g.40550856_40550857insTTT, NC_000023.10:g.40550856_40550857insTTTT, NC_000023.10:g.40550856_40550857insTTTTT, NG_016325.2:g.49554_49555insG, NG_016325.2:g.49554_49555insA, NG_016325.2:g.49554_49555insATA, NG_016325.2:g.49554_49555insAATA, NG_016325.2:g.49554_49555insGA, NG_016325.2:g.49554_49555insAAAAGA, NG_016325.2:g.49554_49555insAA, NG_016325.2:g.49554_49555insAAA, NG_016325.2:g.49554_49555insAAAA, NG_016325.2:g.49554_49555insAAAAA, NG_016325.1:g.48948_48949insG, NG_016325.1:g.48948_48949insA, NG_016325.1:g.48948_48949insATA, NG_016325.1:g.48948_48949insAATA, NG_016325.1:g.48948_48949insGA, NG_016325.1:g.48948_48949insAAAAGA, NG_016325.1:g.48948_48949insAA, NG_016325.1:g.48948_48949insAAA, NG_016325.1:g.48948_48949insAAAA, NG_016325.1:g.48948_48949insAAAAA

Select item 14911082316.

rs1491108231 has merged into rs138556866 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: X:40673859 (GRCh38)
X:40533111 (GRCh37)
Canonical SPDI:: NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:40673846:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2/8 (GENOME_DK)
AA=0.3036/1146 (1000Genomes)
HGVS:: NC_000023.11:g.40673859_40673863del, NC_000023.11:g.40673860_40673863del, NC_000023.11:g.40673861_40673863del, NC_000023.11:g.40673862_40673863del, NC_000023.11:g.40673863del, NC_000023.11:g.40673863dup, NC_000023.11:g.40673862_40673863dup, NC_000023.11:g.40673860_40673863dup, NC_000023.10:g.40533111_40533115del, NC_000023.10:g.40533112_40533115del, NC_000023.10:g.40533113_40533115del, NC_000023.10:g.40533114_40533115del, NC_000023.10:g.40533115del, NC_000023.10:g.40533115dup, NC_000023.10:g.40533114_40533115dup, NC_000023.10:g.40533112_40533115dup, NG_016325.2:g.67308_67312del, NG_016325.2:g.67309_67312del, NG_016325.2:g.67310_67312del, NG_016325.2:g.67311_67312del, NG_016325.2:g.67312del, NG_016325.2:g.67312dup, NG_016325.2:g.67311_67312dup, NG_016325.2:g.67309_67312dup, NG_016325.1:g.66702_66706del, NG_016325.1:g.66703_66706del, NG_016325.1:g.66704_66706del, NG_016325.1:g.66705_66706del, NG_016325.1:g.66706del, NG_016325.1:g.66706dup, NG_016325.1:g.66705_66706dup, NG_016325.1:g.66703_66706dup

Select item 14910622067.

rs1491062206 has merged into rs111903098 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: X:40736217 (GRCh38)
X:40595469 (GRCh37)
Canonical SPDI:: NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:40736209:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: MED14 (Varview), MED14OS (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.107741/373 (1000Genomes)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000023.11:g.40736217_40736222del, NC_000023.11:g.40736218_40736222del, NC_000023.11:g.40736220_40736222del, NC_000023.11:g.40736221_40736222del, NC_000023.11:g.40736222del, NC_000023.11:g.40736222dup, NC_000023.11:g.40736221_40736222dup, NC_000023.11:g.40736220_40736222dup, NC_000023.10:g.40595469_40595474del, NC_000023.10:g.40595470_40595474del, NC_000023.10:g.40595472_40595474del, NC_000023.10:g.40595473_40595474del, NC_000023.10:g.40595474del, NC_000023.10:g.40595474dup, NC_000023.10:g.40595473_40595474dup, NC_000023.10:g.40595472_40595474dup, NG_016325.2:g.4944_4949del, NG_016325.2:g.4945_4949del, NG_016325.2:g.4947_4949del, NG_016325.2:g.4948_4949del, NG_016325.2:g.4949del, NG_016325.2:g.4949dup, NG_016325.2:g.4948_4949dup, NG_016325.2:g.4947_4949dup, NG_016325.1:g.4338_4343del, NG_016325.1:g.4339_4343del, NG_016325.1:g.4341_4343del, NG_016325.1:g.4342_4343del, NG_016325.1:g.4343del, NG_016325.1:g.4343dup, NG_016325.1:g.4342_4343dup, NG_016325.1:g.4341_4343dup

Select item 14909488658.

rs1490948865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:40697060 (GRCh38)
X:40556312 (GRCh37)
Canonical SPDI:: NC_000023.11:40697059:C:G
Gene:: MED14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.40697060C>G, NC_000023.10:g.40556312C>G, NG_016325.2:g.44099G>C, NG_016325.1:g.43493G>C, NM_004229.4:c.1614G>C, NM_004229.3:c.1614G>C, XM_047442636.1:c.1716G>C, XM_047442638.1:c.1716G>C, XM_047442641.1:c.1614G>C, XM_047442643.1:c.1266G>C, XM_047442637.1:c.1716G>C, XM_047442639.1:c.1614G>C, XM_047442640.1:c.1716G>C, XM_047442642.1:c.1614G>C

Select item 14909455049.

rs1490945504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:40678811 (GRCh38)
X:40538063 (GRCh37)
Canonical SPDI:: NC_000023.11:40678810:A:G
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.40678811A>G, NC_000023.10:g.40538063A>G, NG_016325.2:g.62348T>C, NG_016325.1:g.61742T>C

Select item 149089426810.

rs1490894268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:40727666 (GRCh38)
X:40586919 (GRCh37)
Canonical SPDI:: NC_000023.11:40727666:AAAA:AAAAA
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.40727670dup, NC_000023.10:g.40586922dup, NG_016325.2:g.13492dup, NG_016325.1:g.12886dup

Select item 149087154311.

rs1490871543 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:40697849 (GRCh38)
X:40557101 (GRCh37)
Canonical SPDI:: NC_000023.11:40697848:T:
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.40697849del, NC_000023.10:g.40557101del, NG_016325.2:g.43310del, NG_016325.1:g.42704del

Select item 149085087212.

rs1490850872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:40680519 (GRCh38)
X:40539771 (GRCh37)
Canonical SPDI:: NC_000023.11:40680518:G:A
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.40680519G>A, NC_000023.10:g.40539771G>A, NG_016325.2:g.60640C>T, NG_016325.1:g.60034C>T

Select item 149083652713.

rs1490836527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:40669598 (GRCh38)
X:40528850 (GRCh37)
Canonical SPDI:: NC_000023.11:40669597:G:A
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.40669598G>A, NC_000023.10:g.40528850G>A, NG_016325.2:g.71561C>T, NG_016325.1:g.70955C>T

Select item 149078639314.

rs1490786393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:40723668 (GRCh38)
X:40582920 (GRCh37)
Canonical SPDI:: NC_000023.11:40723667:A:G,NC_000023.11:40723667:A:T
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.0001/2 (GnomAD)
T=0.00039/6 (TOMMO)
G=0.00276/8 (KOREAN)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000023.11:g.40723668A>G, NC_000023.11:g.40723668A>T, NC_000023.10:g.40582920A>G, NC_000023.10:g.40582920A>T, NG_016325.2:g.17491T>C, NG_016325.2:g.17491T>A, NG_016325.1:g.16885T>C, NG_016325.1:g.16885T>A

Select item 149074339115.

rs1490743391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:40654393 (GRCh38)
X:40513645 (GRCh37)
Canonical SPDI:: NC_000023.11:40654392:C:A
Gene:: MED14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.40654393C>A, NC_000023.10:g.40513645C>A, NG_016325.2:g.86766G>T, NG_016325.1:g.86160G>T, NM_004229.4:c.4262G>T, NM_004229.3:c.4262G>T, XM_047442636.1:c.4364G>T, XM_047442638.1:c.4232G>T, XM_047442641.1:c.4130G>T, XM_047442643.1:c.3914G>T, XM_047442637.1:c.4364G>T, XM_047442639.1:c.4262G>T, XM_047442640.1:c.4232G>T, XM_047442642.1:c.4130G>T, NP_004220.2:p.Arg1421Met, XP_047298592.1:p.Arg1455Met, XP_047298594.1:p.Arg1411Met, XP_047298597.1:p.Arg1377Met, XP_047298599.1:p.Arg1305Met, XP_047298593.1:p.Arg1455Met, XP_047298595.1:p.Arg1421Met, XP_047298596.1:p.Arg1411Met, XP_047298598.1:p.Arg1377Met

Select item 149070546116.

rs1490705461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:40716429 (GRCh38)
X:40575681 (GRCh37)
Canonical SPDI:: NC_000023.11:40716428:C:T
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.40716429C>T, NC_000023.10:g.40575681C>T, NG_016325.2:g.24730G>A, NG_016325.1:g.24124G>A

Select item 149059385917.

rs1490593859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:40727355 (GRCh38)
X:40586607 (GRCh37)
Canonical SPDI:: NC_000023.11:40727354:T:A,NC_000023.11:40727354:T:C
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.40727355T>A, NC_000023.11:g.40727355T>C, NC_000023.10:g.40586607T>A, NC_000023.10:g.40586607T>C, NG_016325.2:g.13804A>T, NG_016325.2:g.13804A>G, NG_016325.1:g.13198A>T, NG_016325.1:g.13198A>G

Select item 149058086318.

rs1490580863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:40691354 (GRCh38)
X:40550606 (GRCh37)
Canonical SPDI:: NC_000023.11:40691353:C:A,NC_000023.11:40691353:C:T
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.40691354C>A, NC_000023.11:g.40691354C>T, NC_000023.10:g.40550606C>A, NC_000023.10:g.40550606C>T, NG_016325.2:g.49805G>T, NG_016325.2:g.49805G>A, NG_016325.1:g.49199G>T, NG_016325.1:g.49199G>A

Select item 149054883819.

rs1490548838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:40666558 (GRCh38)
X:40525810 (GRCh37)
Canonical SPDI:: NC_000023.11:40666557:G:A
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.40666558G>A, NC_000023.10:g.40525810G>A, NG_016325.2:g.74601C>T, NG_016325.1:g.73995C>T

Select item 149045113420.

rs1490451134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:40655465 (GRCh38)
X:40514717 (GRCh37)
Canonical SPDI:: NC_000023.11:40655464:A:G
Gene:: MED14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.40655465A>G, NC_000023.10:g.40514717A>G, NG_016325.2:g.85694T>C, NG_016325.1:g.85088T>C

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