SNP Links for Gene (Select 54514) - SNP

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Select item 14915588241.

rs1491558824 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:55810045 (GRCh38)
5:55105874 (GRCh37)
Canonical SPDI:: NC_000005.10:55810045::C
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.55810045_55810046insC, NC_000005.9:g.55105873_55105874insC

Select item 14914120102.

rs1491412010 has merged into rs35635463 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55792137 (GRCh38)
5:55087965 (GRCh37)
Canonical SPDI:: NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55792123:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.55792137_55792147del, NC_000005.10:g.55792138_55792147del, NC_000005.10:g.55792139_55792147del, NC_000005.10:g.55792140_55792147del, NC_000005.10:g.55792141_55792147del, NC_000005.10:g.55792142_55792147del, NC_000005.10:g.55792143_55792147del, NC_000005.10:g.55792144_55792147del, NC_000005.10:g.55792145_55792147del, NC_000005.10:g.55792146_55792147del, NC_000005.10:g.55792147del, NC_000005.10:g.55792147dup, NC_000005.10:g.55792146_55792147dup, NC_000005.10:g.55792145_55792147dup, NC_000005.10:g.55792144_55792147dup, NC_000005.10:g.55792143_55792147dup, NC_000005.10:g.55792142_55792147dup, NC_000005.10:g.55792141_55792147dup, NC_000005.10:g.55792138_55792147dup, NC_000005.10:g.55792137_55792147dup, NC_000005.9:g.55087965_55087975del, NC_000005.9:g.55087966_55087975del, NC_000005.9:g.55087967_55087975del, NC_000005.9:g.55087968_55087975del, NC_000005.9:g.55087969_55087975del, NC_000005.9:g.55087970_55087975del, NC_000005.9:g.55087971_55087975del, NC_000005.9:g.55087972_55087975del, NC_000005.9:g.55087973_55087975del, NC_000005.9:g.55087974_55087975del, NC_000005.9:g.55087975del, NC_000005.9:g.55087975dup, NC_000005.9:g.55087974_55087975dup, NC_000005.9:g.55087973_55087975dup, NC_000005.9:g.55087972_55087975dup, NC_000005.9:g.55087971_55087975dup, NC_000005.9:g.55087970_55087975dup, NC_000005.9:g.55087969_55087975dup, NC_000005.9:g.55087966_55087975dup, NC_000005.9:g.55087965_55087975dup

Select item 14913605333.

rs1491360533 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:55801248 (GRCh38)
5:55097076 (GRCh37)
Canonical SPDI:: NC_000005.10:55801247:AT:
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/7 (GnomAD)
HGVS:: NC_000005.10:g.55801248_55801249del, NC_000005.9:g.55097076_55097077del

Select item 14912572004.

rs1491257200 has merged into rs57279452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55765406 (GRCh38)
5:55061234 (GRCh37)
Canonical SPDI:: NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55765395:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.55765406_55765414del, NC_000005.10:g.55765408_55765414del, NC_000005.10:g.55765409_55765414del, NC_000005.10:g.55765410_55765414del, NC_000005.10:g.55765411_55765414del, NC_000005.10:g.55765412_55765414del, NC_000005.10:g.55765413_55765414del, NC_000005.10:g.55765414del, NC_000005.10:g.55765414dup, NC_000005.10:g.55765413_55765414dup, NC_000005.10:g.55765412_55765414dup, NC_000005.10:g.55765411_55765414dup, NC_000005.10:g.55765410_55765414dup, NC_000005.10:g.55765409_55765414dup, NC_000005.10:g.55765408_55765414dup, NC_000005.9:g.55061234_55061242del, NC_000005.9:g.55061236_55061242del, NC_000005.9:g.55061237_55061242del, NC_000005.9:g.55061238_55061242del, NC_000005.9:g.55061239_55061242del, NC_000005.9:g.55061240_55061242del, NC_000005.9:g.55061241_55061242del, NC_000005.9:g.55061242del, NC_000005.9:g.55061242dup, NC_000005.9:g.55061241_55061242dup, NC_000005.9:g.55061240_55061242dup, NC_000005.9:g.55061239_55061242dup, NC_000005.9:g.55061238_55061242dup, NC_000005.9:g.55061237_55061242dup, NC_000005.9:g.55061236_55061242dup

Select item 14912549965.

rs1491254996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:55793056 (GRCh38)
5:55088884 (GRCh37)
Canonical SPDI:: NC_000005.10:55793054:TTT:T
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001349/16 (ALFA)
-=0.000659/89 (GnomAD)
-=0.000709/11 (TOMMO)
-=0.001192/2 (Korea1K)
HGVS:: NC_000005.10:g.55793056_55793057del, NC_000005.9:g.55088884_55088885del

Select item 14911632926.

rs1491163292 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:55765395 (GRCh38)
5:55061223 (GRCh37)
Canonical SPDI:: NC_000005.10:55765394:TA:
Gene:: DDX4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.55765395_55765396del, NC_000005.9:g.55061223_55061224del

Select item 14911601147.

rs1491160114 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:55792123 (GRCh38)
5:55087951 (GRCh37)
Canonical SPDI:: NC_000005.10:55792122:CA:
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000005.10:g.55792123_55792124del, NC_000005.9:g.55087951_55087952del

Select item 14910434238.

rs1491043423 has merged into rs70995739 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 5:55794196 (GRCh38)
5:55090024 (GRCh37)
Canonical SPDI:: NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:55794183:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1901/952 (1000Genomes)
HGVS:: NC_000005.10:g.55794196_55794198del, NC_000005.10:g.55794197_55794198del, NC_000005.10:g.55794198del, NC_000005.10:g.55794198dup, NC_000005.10:g.55794197_55794198dup, NC_000005.10:g.55794196_55794198dup, NC_000005.10:g.55794195_55794198dup, NC_000005.10:g.55794194_55794198dup, NC_000005.9:g.55090024_55090026del, NC_000005.9:g.55090025_55090026del, NC_000005.9:g.55090026del, NC_000005.9:g.55090026dup, NC_000005.9:g.55090025_55090026dup, NC_000005.9:g.55090024_55090026dup, NC_000005.9:g.55090023_55090026dup, NC_000005.9:g.55090022_55090026dup

Select item 14910316549.

rs1491031654 has merged into rs369016313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:55815948 (GRCh38)
5:55111776 (GRCh37)
Canonical SPDI:: NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55815937:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.55815948_55815957del, NC_000005.10:g.55815949_55815957del, NC_000005.10:g.55815951_55815957del, NC_000005.10:g.55815955_55815957del, NC_000005.10:g.55815956_55815957del, NC_000005.10:g.55815957del, NC_000005.10:g.55815957dup, NC_000005.10:g.55815956_55815957dup, NC_000005.10:g.55815955_55815957dup, NC_000005.10:g.55815954_55815957dup, NC_000005.10:g.55815953_55815957dup, NC_000005.10:g.55815952_55815957dup, NC_000005.10:g.55815951_55815957dup, NC_000005.10:g.55815950_55815957dup, NC_000005.10:g.55815949_55815957dup, NC_000005.10:g.55815948_55815957dup, NC_000005.10:g.55815945_55815957dup, NC_000005.10:g.55815944_55815957dup, NC_000005.10:g.55815957_55815958insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.55111776_55111785del, NC_000005.9:g.55111777_55111785del, NC_000005.9:g.55111779_55111785del, NC_000005.9:g.55111783_55111785del, NC_000005.9:g.55111784_55111785del, NC_000005.9:g.55111785del, NC_000005.9:g.55111785dup, NC_000005.9:g.55111784_55111785dup, NC_000005.9:g.55111783_55111785dup, NC_000005.9:g.55111782_55111785dup, NC_000005.9:g.55111781_55111785dup, NC_000005.9:g.55111780_55111785dup, NC_000005.9:g.55111779_55111785dup, NC_000005.9:g.55111778_55111785dup, NC_000005.9:g.55111777_55111785dup, NC_000005.9:g.55111776_55111785dup, NC_000005.9:g.55111773_55111785dup, NC_000005.9:g.55111772_55111785dup, NC_000005.9:g.55111785_55111786insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099331410.

rs1490993314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55766453 (GRCh38)
5:55062281 (GRCh37)
Canonical SPDI:: NC_000005.10:55766452:T:C
Gene:: DDX4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55766453T>C, NC_000005.9:g.55062281T>C

Select item 149096893611.

rs1490968936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55797645 (GRCh38)
5:55093473 (GRCh37)
Canonical SPDI:: NC_000005.10:55797644:T:C
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000342/1 (KOREAN)
C=0.004673/1 (Vietnamese)
HGVS:: NC_000005.10:g.55797645T>C, NC_000005.9:g.55093473T>C

Select item 149094246812.

rs1490942468 has merged into rs3990072 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:55796831 (GRCh38)
5:55092659 (GRCh37)
Canonical SPDI:: NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55796823:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.55796831_55796857del, NC_000005.10:g.55796832_55796857del, NC_000005.10:g.55796833_55796857del, NC_000005.10:g.55796834_55796857del, NC_000005.10:g.55796835_55796857del, NC_000005.10:g.55796836_55796857del, NC_000005.10:g.55796837_55796857del, NC_000005.10:g.55796838_55796857del, NC_000005.10:g.55796839_55796857del, NC_000005.10:g.55796840_55796857del, NC_000005.10:g.55796841_55796857del, NC_000005.10:g.55796842_55796857del, NC_000005.10:g.55796843_55796857del, NC_000005.10:g.55796844_55796857del, NC_000005.10:g.55796845_55796857del, NC_000005.10:g.55796846_55796857del, NC_000005.10:g.55796847_55796857del, NC_000005.10:g.55796848_55796857del, NC_000005.10:g.55796849_55796857del, NC_000005.10:g.55796850_55796857del, NC_000005.10:g.55796851_55796857del, NC_000005.10:g.55796852_55796857del, NC_000005.10:g.55796853_55796857del, NC_000005.10:g.55796854_55796857del, NC_000005.10:g.55796855_55796857del, NC_000005.10:g.55796856_55796857del, NC_000005.10:g.55796857del, NC_000005.10:g.55796857dup, NC_000005.10:g.55796856_55796857dup, NC_000005.10:g.55796855_55796857dup, NC_000005.10:g.55796854_55796857dup, NC_000005.10:g.55796853_55796857dup, NC_000005.10:g.55796852_55796857dup, NC_000005.10:g.55796851_55796857dup, NC_000005.10:g.55796850_55796857dup, NC_000005.10:g.55796849_55796857dup, NC_000005.10:g.55796848_55796857dup, NC_000005.10:g.55796847_55796857dup, NC_000005.10:g.55796824_55796857T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.55796846_55796857dup, NC_000005.10:g.55796845_55796857dup, NC_000005.10:g.55796844_55796857dup, NC_000005.10:g.55796843_55796857dup, NC_000005.10:g.55796842_55796857dup, NC_000005.10:g.55796841_55796857dup, NC_000005.10:g.55796840_55796857dup, NC_000005.10:g.55796839_55796857dup, NC_000005.10:g.55796838_55796857dup, NC_000005.10:g.55796837_55796857dup, NC_000005.10:g.55796836_55796857dup, NC_000005.10:g.55796835_55796857dup, NC_000005.10:g.55796834_55796857dup, NC_000005.10:g.55796833_55796857dup, NC_000005.10:g.55796832_55796857dup, NC_000005.10:g.55796831_55796857dup, NC_000005.10:g.55796830_55796857dup, NC_000005.10:g.55796829_55796857dup, NC_000005.10:g.55796828_55796857dup, NC_000005.10:g.55796827_55796857dup, NC_000005.10:g.55796826_55796857dup, NC_000005.10:g.55796825_55796857dup, NC_000005.10:g.55796857_55796858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.55796857_55796858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.55092659_55092685del, NC_000005.9:g.55092660_55092685del, NC_000005.9:g.55092661_55092685del, NC_000005.9:g.55092662_55092685del, NC_000005.9:g.55092663_55092685del, NC_000005.9:g.55092664_55092685del, NC_000005.9:g.55092665_55092685del, NC_000005.9:g.55092666_55092685del, NC_000005.9:g.55092667_55092685del, NC_000005.9:g.55092668_55092685del, NC_000005.9:g.55092669_55092685del, NC_000005.9:g.55092670_55092685del, NC_000005.9:g.55092671_55092685del, NC_000005.9:g.55092672_55092685del, NC_000005.9:g.55092673_55092685del, NC_000005.9:g.55092674_55092685del, NC_000005.9:g.55092675_55092685del, NC_000005.9:g.55092676_55092685del, NC_000005.9:g.55092677_55092685del, NC_000005.9:g.55092678_55092685del, NC_000005.9:g.55092679_55092685del, NC_000005.9:g.55092680_55092685del, NC_000005.9:g.55092681_55092685del, NC_000005.9:g.55092682_55092685del, NC_000005.9:g.55092683_55092685del, NC_000005.9:g.55092684_55092685del, NC_000005.9:g.55092685del, NC_000005.9:g.55092685dup, NC_000005.9:g.55092684_55092685dup, NC_000005.9:g.55092683_55092685dup, NC_000005.9:g.55092682_55092685dup, NC_000005.9:g.55092681_55092685dup, NC_000005.9:g.55092680_55092685dup, NC_000005.9:g.55092679_55092685dup, NC_000005.9:g.55092678_55092685dup, NC_000005.9:g.55092677_55092685dup, NC_000005.9:g.55092676_55092685dup, NC_000005.9:g.55092675_55092685dup, NC_000005.9:g.55092652_55092685T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.55092674_55092685dup, NC_000005.9:g.55092673_55092685dup, NC_000005.9:g.55092672_55092685dup, NC_000005.9:g.55092671_55092685dup, NC_000005.9:g.55092670_55092685dup, NC_000005.9:g.55092669_55092685dup, NC_000005.9:g.55092668_55092685dup, NC_000005.9:g.55092667_55092685dup, NC_000005.9:g.55092666_55092685dup, NC_000005.9:g.55092665_55092685dup, NC_000005.9:g.55092664_55092685dup, NC_000005.9:g.55092663_55092685dup, NC_000005.9:g.55092662_55092685dup, NC_000005.9:g.55092661_55092685dup, NC_000005.9:g.55092660_55092685dup, NC_000005.9:g.55092659_55092685dup, NC_000005.9:g.55092658_55092685dup, NC_000005.9:g.55092657_55092685dup, NC_000005.9:g.55092656_55092685dup, NC_000005.9:g.55092655_55092685dup, NC_000005.9:g.55092654_55092685dup, NC_000005.9:g.55092653_55092685dup, NC_000005.9:g.55092685_55092686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.55092685_55092686insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149093290113.

rs1490932901 [Homo sapiens]

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

Select item 149091137014.

rs1490911370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:55758484 (GRCh38)
5:55054312 (GRCh37)
Canonical SPDI:: NC_000005.10:55758483:G:A,NC_000005.10:55758483:G:C
Gene:: DDX4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55758484G>A, NC_000005.10:g.55758484G>C, NC_000005.9:g.55054312G>A, NC_000005.9:g.55054312G>C

Select item 149091002215.

rs1490910022 has merged into rs533865757 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTT [Show Flanks]
Chromosome:: 5:55810103 (GRCh38)
5:55105931 (GRCh37)
Canonical SPDI:: NC_000005.10:55810102:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:55810102:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:55810102:TTTTTTTTTT:TTTTTTTTTTTTT
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.000011/3 (TOPMED)
-=0.006012/6 (GoNL)
HGVS:: NC_000005.10:g.55810112del, NC_000005.10:g.55810112dup, NC_000005.10:g.55810110_55810112dup, NC_000005.9:g.55105940del, NC_000005.9:g.55105940dup, NC_000005.9:g.55105938_55105940dup

Select item 149087784316.

rs1490877843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:55743508 (GRCh38)
5:55039336 (GRCh37)
Canonical SPDI:: NC_000005.10:55743507:C:G,NC_000005.10:55743507:C:T
Gene:: DDX4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55743508C>G, NC_000005.10:g.55743508C>T, NC_000005.9:g.55039336C>G, NC_000005.9:g.55039336C>T

Select item 149081589717.

rs1490815897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55814689 (GRCh38)
5:55110517 (GRCh37)
Canonical SPDI:: NC_000005.10:55814688:A:G
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55814689A>G, NC_000005.9:g.55110517A>G

Select item 149079509818.

rs1490795098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:55788975 (GRCh38)
5:55084803 (GRCh37)
Canonical SPDI:: NC_000005.10:55788974:T:G
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.55788975T>G, NC_000005.9:g.55084803T>G

Select item 149075715419.

rs1490757154 has merged into rs59666308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:55736541 (GRCh38)
5:55032369 (GRCh37)
Canonical SPDI:: NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:55736530:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.55736541_55736553del, NC_000005.10:g.55736542_55736553del, NC_000005.10:g.55736546_55736553del, NC_000005.10:g.55736547_55736553del, NC_000005.10:g.55736549_55736553del, NC_000005.10:g.55736550_55736553del, NC_000005.10:g.55736551_55736553del, NC_000005.10:g.55736552_55736553del, NC_000005.10:g.55736553del, NC_000005.10:g.55736553dup, NC_000005.10:g.55736552_55736553dup, NC_000005.10:g.55736551_55736553dup, NC_000005.10:g.55736550_55736553dup, NC_000005.10:g.55736549_55736553dup, NC_000005.10:g.55736548_55736553dup, NC_000005.10:g.55736547_55736553dup, NC_000005.9:g.55032369_55032381del, NC_000005.9:g.55032370_55032381del, NC_000005.9:g.55032374_55032381del, NC_000005.9:g.55032375_55032381del, NC_000005.9:g.55032377_55032381del, NC_000005.9:g.55032378_55032381del, NC_000005.9:g.55032379_55032381del, NC_000005.9:g.55032380_55032381del, NC_000005.9:g.55032381del, NC_000005.9:g.55032381dup, NC_000005.9:g.55032380_55032381dup, NC_000005.9:g.55032379_55032381dup, NC_000005.9:g.55032378_55032381dup, NC_000005.9:g.55032377_55032381dup, NC_000005.9:g.55032376_55032381dup, NC_000005.9:g.55032375_55032381dup

Select item 149073898720.

rs1490738987 has merged into rs59569512 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 5:55790117 (GRCh38)
5:55085945 (GRCh37)
Canonical SPDI:: NC_000005.10:55790110:AAAAAAAAAAA:AAAAAA,NC_000005.10:55790110:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:55790110:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:55790110:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: DDX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.021667/13 (NorthernSweden)
-=0.070487/353 (1000Genomes)
HGVS:: NC_000005.10:g.55790117_55790121del, NC_000005.10:g.55790120_55790121del, NC_000005.10:g.55790121del, NC_000005.10:g.55790121dup, NC_000005.9:g.55085945_55085949del, NC_000005.9:g.55085948_55085949del, NC_000005.9:g.55085949del, NC_000005.9:g.55085949dup

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