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Select item 14914020521.

rs1491402052 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:50019469 (GRCh38)
X:49784079 (GRCh37)
Canonical SPDI:: NC_000023.11:50019469::C
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00084/10 (ALFA)
C=0.00392/191 (GnomAD)
HGVS:: NC_000023.11:g.50019469_50019470insC, NW_004070880.2:g.2208898_2208899insC, NG_007159.3:g.101854_101855insC, NC_000023.10:g.49784078_49784079insC

Select item 14913370182.

rs1491337018 has merged into rs113714534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:50027025 (GRCh38)
X:49791637 (GRCh37)
Canonical SPDI:: NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50027017:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLCN5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.1/4 (GENOME_DK)
HGVS:: NC_000023.11:g.50027025_50027032del, NC_000023.11:g.50027029_50027032del, NC_000023.11:g.50027030_50027032del, NC_000023.11:g.50027031_50027032del, NC_000023.11:g.50027032del, NC_000023.11:g.50027032dup, NC_000023.11:g.50027031_50027032dup, NC_000023.11:g.50027030_50027032dup, NC_000023.11:g.50027029_50027032dup, NC_000023.11:g.50027028_50027032dup, NC_000023.11:g.50027025_50027032dup, NC_000023.11:g.50027032_50027033insTTTTTTTTTTTTTTTTTTTTTT, NW_004070880.2:g.2216454_2216461del, NW_004070880.2:g.2216458_2216461del, NW_004070880.2:g.2216459_2216461del, NW_004070880.2:g.2216460_2216461del, NW_004070880.2:g.2216461del, NW_004070880.2:g.2216461dup, NW_004070880.2:g.2216460_2216461dup, NW_004070880.2:g.2216459_2216461dup, NW_004070880.2:g.2216458_2216461dup, NW_004070880.2:g.2216457_2216461dup, NW_004070880.2:g.2216454_2216461dup, NW_004070880.2:g.2216461_2216462insTTTTTTTTTTTTTTTTTTTTTT, NG_007159.3:g.109410_109417del, NG_007159.3:g.109414_109417del, NG_007159.3:g.109415_109417del, NG_007159.3:g.109416_109417del, NG_007159.3:g.109417del, NG_007159.3:g.109417dup, NG_007159.3:g.109416_109417dup, NG_007159.3:g.109415_109417dup, NG_007159.3:g.109414_109417dup, NG_007159.3:g.109413_109417dup, NG_007159.3:g.109410_109417dup, NG_007159.3:g.109417_109418insTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.49791630C>T, NC_000023.10:g.49791630_49791637del, NC_000023.10:g.49791610CTTT[5], NC_000023.10:g.49791630_49791632del, NC_000023.10:g.49791630_49791631del, NC_000023.10:g.49791630del, NC_000023.10:g.49791630delinsTT, NC_000023.10:g.49791630delinsTTT, NC_000023.10:g.49791630delinsTTTT, NC_000023.10:g.49791630delinsTTTTT, NC_000023.10:g.49791630delinsTTTTTT, NC_000023.10:g.49791630delinsTTTTTTTTT, NC_000023.10:g.49791630delinsTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913092783.

rs1491309278 has merged into rs1174801174 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: X:50002677 (GRCh38)
X:49767288 (GRCh37)
Canonical SPDI:: NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:50002663:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: CLCN5 (Varview), MIR188 (Varview), MIR532 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000023.11:g.50002665CT[6], NC_000023.11:g.50002665CT[7], NC_000023.11:g.50002665CT[8], NC_000023.11:g.50002665CT[10], NC_000023.11:g.50002665CT[11], NC_000023.11:g.50002665CT[12], NC_000023.11:g.50002665CT[13], NC_000023.11:g.50002665CT[14], NW_004070880.2:g.2192094CT[6], NW_004070880.2:g.2192094CT[7], NW_004070880.2:g.2192094CT[8], NW_004070880.2:g.2192094CT[10], NW_004070880.2:g.2192094CT[11], NW_004070880.2:g.2192094CT[12], NW_004070880.2:g.2192094CT[13], NW_004070880.2:g.2192094CT[14], NG_007159.3:g.85050CT[6], NG_007159.3:g.85050CT[7], NG_007159.3:g.85050CT[8], NG_007159.3:g.85050CT[10], NG_007159.3:g.85050CT[11], NG_007159.3:g.85050CT[12], NG_007159.3:g.85050CT[13], NG_007159.3:g.85050CT[14], NC_000023.10:g.49767276CT[6], NC_000023.10:g.49767276CT[7], NC_000023.10:g.49767276CT[8], NC_000023.10:g.49767276CT[10], NC_000023.10:g.49767276CT[11], NC_000023.10:g.49767276CT[12], NC_000023.10:g.49767276CT[13], NC_000023.10:g.49767276CT[14]

Select item 14912855464.

rs1491285546 has merged into rs1175073117 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:50019475 (GRCh38)
X:49784084 (GRCh37)
Canonical SPDI:: NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:50019468:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLCN5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.50019475_50019489del, NC_000023.11:g.50019477_50019489del, NC_000023.11:g.50019478_50019489del, NC_000023.11:g.50019479_50019489del, NC_000023.11:g.50019482_50019489del, NC_000023.11:g.50019483_50019489del, NC_000023.11:g.50019484_50019489del, NC_000023.11:g.50019485_50019489del, NC_000023.11:g.50019486_50019489del, NC_000023.11:g.50019487_50019489del, NC_000023.11:g.50019488_50019489del, NC_000023.11:g.50019489del, NC_000023.11:g.50019489dup, NC_000023.11:g.50019488_50019489dup, NC_000023.11:g.50019487_50019489dup, NC_000023.11:g.50019486_50019489dup, NC_000023.11:g.50019485_50019489dup, NC_000023.11:g.50019484_50019489dup, NC_000023.11:g.50019483_50019489dup, NC_000023.11:g.50019482_50019489dup, NC_000023.11:g.50019481_50019489dup, NC_000023.11:g.50019480_50019489dup, NC_000023.11:g.50019479_50019489dup, NC_000023.11:g.50019478_50019489dup, NC_000023.11:g.50019477_50019489dup, NC_000023.11:g.50019476_50019489dup, NC_000023.11:g.50019475_50019489dup, NC_000023.11:g.50019474_50019489dup, NC_000023.11:g.50019473_50019489dup, NC_000023.11:g.50019472_50019489dup, NC_000023.11:g.50019471_50019489dup, NC_000023.11:g.50019470_50019489dup, NW_004070880.2:g.2208904_2208918del, NW_004070880.2:g.2208906_2208918del, NW_004070880.2:g.2208907_2208918del, NW_004070880.2:g.2208908_2208918del, NW_004070880.2:g.2208911_2208918del, NW_004070880.2:g.2208912_2208918del, NW_004070880.2:g.2208913_2208918del, NW_004070880.2:g.2208914_2208918del, NW_004070880.2:g.2208915_2208918del, NW_004070880.2:g.2208916_2208918del, NW_004070880.2:g.2208917_2208918del, NW_004070880.2:g.2208918del, NW_004070880.2:g.2208918dup, NW_004070880.2:g.2208917_2208918dup, NW_004070880.2:g.2208916_2208918dup, NW_004070880.2:g.2208915_2208918dup, NW_004070880.2:g.2208914_2208918dup, NW_004070880.2:g.2208913_2208918dup, NW_004070880.2:g.2208912_2208918dup, NW_004070880.2:g.2208911_2208918dup, NW_004070880.2:g.2208910_2208918dup, NW_004070880.2:g.2208909_2208918dup, NW_004070880.2:g.2208908_2208918dup, NW_004070880.2:g.2208907_2208918dup, NW_004070880.2:g.2208906_2208918dup, NW_004070880.2:g.2208905_2208918dup, NW_004070880.2:g.2208904_2208918dup, NW_004070880.2:g.2208903_2208918dup, NW_004070880.2:g.2208902_2208918dup, NW_004070880.2:g.2208901_2208918dup, NW_004070880.2:g.2208900_2208918dup, NW_004070880.2:g.2208899_2208918dup, NG_007159.3:g.101860_101874del, NG_007159.3:g.101862_101874del, NG_007159.3:g.101863_101874del, NG_007159.3:g.101864_101874del, NG_007159.3:g.101867_101874del, NG_007159.3:g.101868_101874del, NG_007159.3:g.101869_101874del, NG_007159.3:g.101870_101874del, NG_007159.3:g.101871_101874del, NG_007159.3:g.101872_101874del, NG_007159.3:g.101873_101874del, NG_007159.3:g.101874del, NG_007159.3:g.101874dup, NG_007159.3:g.101873_101874dup, NG_007159.3:g.101872_101874dup, NG_007159.3:g.101871_101874dup, NG_007159.3:g.101870_101874dup, NG_007159.3:g.101869_101874dup, NG_007159.3:g.101868_101874dup, NG_007159.3:g.101867_101874dup, NG_007159.3:g.101866_101874dup, NG_007159.3:g.101865_101874dup, NG_007159.3:g.101864_101874dup, NG_007159.3:g.101863_101874dup, NG_007159.3:g.101862_101874dup, NG_007159.3:g.101861_101874dup, NG_007159.3:g.101860_101874dup, NG_007159.3:g.101859_101874dup, NG_007159.3:g.101858_101874dup, NG_007159.3:g.101857_101874dup, NG_007159.3:g.101856_101874dup, NG_007159.3:g.101855_101874dup, NC_000023.10:g.49784084_49784098del, NC_000023.10:g.49784086_49784098del, NC_000023.10:g.49784087_49784098del, NC_000023.10:g.49784088_49784098del, NC_000023.10:g.49784091_49784098del, NC_000023.10:g.49784092_49784098del, NC_000023.10:g.49784093_49784098del, NC_000023.10:g.49784094_49784098del, NC_000023.10:g.49784095_49784098del, NC_000023.10:g.49784096_49784098del, NC_000023.10:g.49784097_49784098del, NC_000023.10:g.49784098del, NC_000023.10:g.49784098dup, NC_000023.10:g.49784097_49784098dup, NC_000023.10:g.49784096_49784098dup, NC_000023.10:g.49784095_49784098dup, NC_000023.10:g.49784094_49784098dup, NC_000023.10:g.49784093_49784098dup, NC_000023.10:g.49784092_49784098dup, NC_000023.10:g.49784091_49784098dup, NC_000023.10:g.49784090_49784098dup, NC_000023.10:g.49784089_49784098dup, NC_000023.10:g.49784088_49784098dup, NC_000023.10:g.49784087_49784098dup, NC_000023.10:g.49784086_49784098dup, NC_000023.10:g.49784085_49784098dup, NC_000023.10:g.49784084_49784098dup, NC_000023.10:g.49784083_49784098dup, NC_000023.10:g.49784082_49784098dup, NC_000023.10:g.49784081_49784098dup, NC_000023.10:g.49784080_49784098dup, NC_000023.10:g.49784079_49784098dup

Select item 14912289135.

rs1491228913 has merged into rs782239212 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: X:49929792 (GRCh38)
X:49694402 (GRCh37)
Canonical SPDI:: NC_000023.11:49929779:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:49929779:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:49929779:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:49929779:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000023.11:g.49929792_49929793del, NC_000023.11:g.49929793del, NC_000023.11:g.49929793dup, NC_000023.11:g.49929792_49929793dup, NW_004070880.2:g.2119221_2119222del, NW_004070880.2:g.2119222del, NW_004070880.2:g.2119222dup, NW_004070880.2:g.2119221_2119222dup, NG_007159.3:g.12177_12178del, NG_007159.3:g.12178del, NG_007159.3:g.12178dup, NG_007159.3:g.12177_12178dup, NC_000023.10:g.49694402_49694403del, NC_000023.10:g.49694403del, NC_000023.10:g.49694403dup, NC_000023.10:g.49694402_49694403dup

Select item 14911161516.

rs1491116151 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: X:49929780 (GRCh38)
X:49694391 (GRCh37)
Canonical SPDI:: NC_000023.11:49929780:TTT:TTTGTTT
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTT=0./0 (ALFA)
TTTG=0.00008/7 (GnomAD)
HGVS:: NC_000023.11:g.49929783_49929784insGTTT, NW_004070880.2:g.2119212_2119213insGTTT, NG_007159.3:g.12168_12169insGTTT, NC_000023.10:g.49694393_49694394insGTTT

Select item 14910804077.

rs1491080407 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:50066180 (GRCh38)
X:49830822 (GRCh37)
Canonical SPDI:: NC_000023.11:50066178:AGA:A
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00007/6 (GnomAD)
HGVS:: NC_000023.11:g.50066180_50066181del, NW_004070880.2:g.2255609_2255610del, NG_007159.3:g.148565_148566del, NC_000023.10:g.49830835dup, NC_000023.10:g.49830836del

Select item 14909689198.

rs1490968919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50014049 (GRCh38)
X:49778657 (GRCh37)
Canonical SPDI:: NC_000023.11:50014048:C:T
Gene:: CLCN5 (Varview), MIR502 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50014049C>T, NW_004070880.2:g.2203478C>T, NG_007159.3:g.96434C>T, NC_000023.10:g.49778657C>T

Select item 14909651049.

rs1490965104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49935410 (GRCh38)
X:49700020 (GRCh37)
Canonical SPDI:: NC_000023.11:49935409:G:A
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49935410G>A, NW_004070880.2:g.2124839G>A, NG_007159.3:g.17795G>A, NC_000023.10:g.49700020G>A

Select item 149091161510.

rs1490911615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:49991317 (GRCh38)
X:49755928 (GRCh37)
Canonical SPDI:: NC_000023.11:49991316:T:A
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.49991317T>A, NW_004070880.2:g.2180746T>A, NG_007159.3:g.73702T>A, NC_000023.10:g.49755928T>A

Select item 149088287211.

rs1490882872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:49967690 (GRCh38)
X:49732302 (GRCh37)
Canonical SPDI:: NC_000023.11:49967689:C:G
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (GnomAD)
G=0.00005/1 (TOMMO)
HGVS:: NC_000023.11:g.49967690C>G, NW_004070880.2:g.2157119C>G, NG_007159.3:g.50075C>G, NC_000023.10:g.49732302C>G

Select item 149087963112.

rs1490879631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49992751 (GRCh38)
X:49757362 (GRCh37)
Canonical SPDI:: NC_000023.11:49992750:C:T
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49992751C>T, NW_004070880.2:g.2182180C>T, NG_007159.3:g.75136C>T, NC_000023.10:g.49757362C>T

Select item 149085473713.

rs1490854737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49969959 (GRCh38)
X:49734572 (GRCh37)
Canonical SPDI:: NC_000023.11:49969958:A:G
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49969959A>G, NW_004070880.2:g.2159388A>G, NG_007159.3:g.52344A>G, NC_000023.10:g.49734572A>G

Select item 149084908514.

rs1490849085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:50089388 (GRCh38)
X:49854045 (GRCh37)
Canonical SPDI:: NC_000023.11:50089387:A:G,NC_000023.11:50089387:A:T
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.50089388A>G, NC_000023.11:g.50089388A>T, NW_004070880.2:g.2278817A>G, NW_004070880.2:g.2278817A>T, NG_007159.3:g.171773A>G, NG_007159.3:g.171773A>T, NC_000023.10:g.49854045A>G, NC_000023.10:g.49854045A>T

Select item 149080974815.

rs1490809748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:50078499 (GRCh38)
X:49843156 (GRCh37)
Canonical SPDI:: NC_000023.11:50078498:G:T
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.50078499G>T, NW_004070880.2:g.2267928G>T, NG_007159.3:g.160884G>T, NC_000023.10:g.49843156G>T

Select item 149074670716.

rs1490746707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50038602 (GRCh38)
X:49803211 (GRCh37)
Canonical SPDI:: NC_000023.11:50038601:C:T
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.50038602C>T, NW_004070880.2:g.2228031C>T, NG_007159.3:g.120987C>T, NC_000023.10:g.49803211C>T

Select item 149067429517.

rs1490674295 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:49979607 (GRCh38)
X:49744218 (GRCh37)
Canonical SPDI:: NC_000023.11:49979604:ATAT:AT
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49979605AT[1], NW_004070880.2:g.2169034AT[1], NG_007159.3:g.61990AT[1], NC_000023.10:g.49744216AT[1]

Select item 149063675818.

rs1490636758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:50077942 (GRCh38)
X:49842599 (GRCh37)
Canonical SPDI:: NC_000023.11:50077941:C:T
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.50077942C>T, NW_004070880.2:g.2267371C>T, NG_007159.3:g.160327C>T, NC_000023.10:g.49842599C>T

Select item 149063208119.

rs1490632081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:50079018 (GRCh38)
X:49843675 (GRCh37)
Canonical SPDI:: NC_000023.11:50079017:T:C
Gene:: CLCN5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.50079018T>C, NW_004070880.2:g.2268447T>C, NG_007159.3:g.161403T>C, NC_000023.10:g.49843675T>C

Select item 149062516320.

rs1490625163 has merged into rs1245500987 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCTCTGTCTCT>-,GTCTCT,GTCTCTGTCTCTGTCTCT [Show Flanks]
Chromosome:: X:50002657 (GRCh38)
X:49767268 (GRCh37)
Canonical SPDI:: NC_000023.11:50002639:TCTCTGTCTCTGTCTCTGTCTCTGTCTCT:TCTCTGTCTCTGTCTCT,NC_000023.11:50002639:TCTCTGTCTCTGTCTCTGTCTCTGTCTCT:TCTCTGTCTCTGTCTCTGTCTCT,NC_000023.11:50002639:TCTCTGTCTCTGTCTCTGTCTCTGTCTCT:TCTCTGTCTCTGTCTCTGTCTCTGTCTCTGTCTCT
Gene:: CLCN5 (Varview), MIR188 (Varview), MIR532 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTGTCTCTGTCTCTGTCTCT=0./0 (ALFA)
-=0.00023/3 (TOMMO)
HGVS:: NC_000023.11:g.50002645GTCTCT[2], NC_000023.11:g.50002645GTCTCT[3], NC_000023.11:g.50002645GTCTCT[5], NW_004070880.2:g.2192074GTCTCT[2], NW_004070880.2:g.2192074GTCTCT[3], NW_004070880.2:g.2192074GTCTCT[5], NG_007159.3:g.85030GTCTCT[2], NG_007159.3:g.85030GTCTCT[3], NG_007159.3:g.85030GTCTCT[5], NC_000023.10:g.49767256GTCTCT[2], NC_000023.10:g.49767256GTCTCT[3], NC_000023.10:g.49767256GTCTCT[5]

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