SNP Links for Gene (Select 55344) - SNP

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Select item 14915835781.

rs1491583578 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: Y:282956 (GRCh38)
Y:149623 (GRCh37)
Canonical SPDI:: NC_000024.10:282955:TT:
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000049/13 (TOPMED)
-=0.000054/7 (GnomAD)
-=0.001628/27 (TOMMO)
HGVS:: NC_000024.10:g.282956_282957del, NC_000024.9:g.149623_149624del, NG_016868.1:g.11633_11634del, NC_000023.11:g.282956_282957del, NC_000023.10:g.199623_199624del

Select item 14915592652.

rs1491559265 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: Y:282945 (GRCh38)
Y:149612 (GRCh37)
Canonical SPDI:: NC_000024.10:282944:TT:
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000117/31 (TOPMED)
-=0.000153/12 (GnomAD)
-=0.000814/13 (TOMMO)
HGVS:: NC_000024.10:g.282945_282946del, NC_000024.9:g.149612_149613del, NG_016868.1:g.11622_11623del, NC_000023.11:g.282945_282946del, NC_000023.10:g.199612_199613del

Select item 14915461353.

rs1491546135 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: Y:282934 (GRCh38)
Y:149601 (GRCh37)
Canonical SPDI:: NC_000024.10:282933:TT:
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000024.10:g.282934_282935del, NC_000024.9:g.149601_149602del, NG_016868.1:g.11611_11612del, NC_000023.11:g.282934_282935del, NC_000023.10:g.199601_199602del

Select item 14915184464.

rs1491518446 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: Y:300587 (GRCh38)
Y:167255 (GRCh37)
Canonical SPDI:: NC_000024.10:300587::G
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000015/2 (GnomAD)
HGVS:: NC_000024.10:g.300587_300588insG, NC_000024.9:g.167254_167255insG, NG_016868.1:g.29264_29265insG, NM_018390.4:c.*1252_*1253insG, NM_018390.3:c.*1252_*1253insG, NM_001370370.1:c.*1252_*1253insG, NM_001370372.1:c.*1252_*1253insG, NM_001370373.1:c.*1252_*1253insG, NM_001370371.1:c.*1252_*1253insG, NC_000023.11:g.300587_300588insG, NC_000023.10:g.217254_217255insG, XM_011545633.4:c.*1252_*1253insG, XM_024452395.2:c.*1252_*1253insG, XM_024452491.2:c.*1252_*1253insG, XM_047442245.1:c.*1252_*1253insG, XM_047442244.1:c.*1252_*1253insG, XM_047442740.1:c.*1252_*1253insG, XM_047442741.1:c.*1252_*1253insG

Select item 14914925935.

rs1491492593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: Y:289511 (GRCh38)
Y:156179 (GRCh37)
Canonical SPDI:: NC_000024.10:289511:TT:TTCTT
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00008/1 (ALFA)
TTC=0.00018/3 (TOMMO)
TTC=0.00089/45 (GnomAD)
HGVS:: NC_000024.10:g.289513_289514insCTT, NC_000024.9:g.156180_156181insCTT, NG_016868.1:g.18190_18191insCTT, NC_000023.11:g.289513_289514insCTT, NC_000023.10:g.206180_206181insCTT

Select item 14914817286.

rs1491481728 has merged into rs976555911 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: Y:282962 (GRCh38)
Y:149629 (GRCh37)
Canonical SPDI:: NC_000024.10:282956:TATATAT:TATAT,NC_000024.10:282956:TATATAT:TATATATAT
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.282958AT[2], NC_000024.10:g.282958AT[4], NC_000024.9:g.149625AT[2], NC_000024.9:g.149625AT[4], NG_016868.1:g.11635AT[2], NG_016868.1:g.11635AT[4], NC_000023.11:g.282958AT[2], NC_000023.11:g.282958AT[4], NC_000023.10:g.199625AT[2], NC_000023.10:g.199625AT[4]

Select item 14913811147.

rs1491381114 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: Y:277935 (GRCh38)
Y:144602 (GRCh37)
Canonical SPDI:: NC_000024.10:277934:AG:
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00413/49 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000024.10:g.277935_277936del, NC_000024.9:g.144602_144603del, NG_016868.1:g.6612_6613del, NC_000023.11:g.277935_277936del, NC_000023.10:g.194602_194603del

Select item 14913782508.

rs1491378250 has merged into rs968112829 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: Y:300061 (GRCh38)
Y:166728 (GRCh37)
Canonical SPDI:: NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000024.10:300052:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PLCXD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000024.10:g.300061_300073del, NC_000024.10:g.300063_300073del, NC_000024.10:g.300064_300073del, NC_000024.10:g.300065_300073del, NC_000024.10:g.300066_300073del, NC_000024.10:g.300067_300073del, NC_000024.10:g.300068_300073del, NC_000024.10:g.300069_300073del, NC_000024.10:g.300070_300073del, NC_000024.10:g.300071_300073del, NC_000024.10:g.300072_300073del, NC_000024.10:g.300073del, NC_000024.10:g.300073dup, NC_000024.10:g.300072_300073dup, NC_000024.10:g.300071_300073dup, NC_000024.10:g.300070_300073dup, NC_000024.9:g.166728_166740del, NC_000024.9:g.166730_166740del, NC_000024.9:g.166731_166740del, NC_000024.9:g.166732_166740del, NC_000024.9:g.166733_166740del, NC_000024.9:g.166734_166740del, NC_000024.9:g.166735_166740del, NC_000024.9:g.166736_166740del, NC_000024.9:g.166737_166740del, NC_000024.9:g.166738_166740del, NC_000024.9:g.166739_166740del, NC_000024.9:g.166740del, NC_000024.9:g.166740dup, NC_000024.9:g.166739_166740dup, NC_000024.9:g.166738_166740dup, NC_000024.9:g.166737_166740dup, NG_016868.1:g.28738_28750del, NG_016868.1:g.28740_28750del, NG_016868.1:g.28741_28750del, NG_016868.1:g.28742_28750del, NG_016868.1:g.28743_28750del, NG_016868.1:g.28744_28750del, NG_016868.1:g.28745_28750del, NG_016868.1:g.28746_28750del, NG_016868.1:g.28747_28750del, NG_016868.1:g.28748_28750del, NG_016868.1:g.28749_28750del, NG_016868.1:g.28750del, NG_016868.1:g.28750dup, NG_016868.1:g.28749_28750dup, NG_016868.1:g.28748_28750dup, NG_016868.1:g.28747_28750dup, NM_018390.4:c.*726_*738del, NM_018390.4:c.*728_*738del, NM_018390.4:c.*729_*738del, NM_018390.4:c.*730_*738del, NM_018390.4:c.*731_*738del, NM_018390.4:c.*732_*738del, NM_018390.4:c.*733_*738del, NM_018390.4:c.*734_*738del, NM_018390.4:c.*735_*738del, NM_018390.4:c.*736_*738del, NM_018390.4:c.*737_*738del, NM_018390.4:c.*738del, NM_018390.4:c.*738dup, NM_018390.4:c.*737_*738dup, NM_018390.4:c.*736_*738dup, NM_018390.4:c.*735_*738dup, NM_018390.3:c.*726_*738del, NM_018390.3:c.*728_*738del, NM_018390.3:c.*729_*738del, NM_018390.3:c.*730_*738del, NM_018390.3:c.*731_*738del, NM_018390.3:c.*732_*738del, NM_018390.3:c.*733_*738del, NM_018390.3:c.*734_*738del, NM_018390.3:c.*735_*738del, NM_018390.3:c.*736_*738del, NM_018390.3:c.*737_*738del, NM_018390.3:c.*738del, NM_018390.3:c.*738dup, NM_018390.3:c.*737_*738dup, NM_018390.3:c.*736_*738dup, NM_018390.3:c.*735_*738dup, NM_001370370.1:c.*726_*738del, NM_001370370.1:c.*728_*738del, NM_001370370.1:c.*729_*738del, NM_001370370.1:c.*730_*738del, NM_001370370.1:c.*731_*738del, NM_001370370.1:c.*732_*738del, NM_001370370.1:c.*733_*738del, NM_001370370.1:c.*734_*738del, NM_001370370.1:c.*735_*738del, NM_001370370.1:c.*736_*738del, NM_001370370.1:c.*737_*738del, NM_001370370.1:c.*738del, NM_001370370.1:c.*738dup, NM_001370370.1:c.*737_*738dup, NM_001370370.1:c.*736_*738dup, NM_001370370.1:c.*735_*738dup, NM_001370372.1:c.*726_*738del, NM_001370372.1:c.*728_*738del, NM_001370372.1:c.*729_*738del, NM_001370372.1:c.*730_*738del, NM_001370372.1:c.*731_*738del, NM_001370372.1:c.*732_*738del, NM_001370372.1:c.*733_*738del, NM_001370372.1:c.*734_*738del, NM_001370372.1:c.*735_*738del, NM_001370372.1:c.*736_*738del, NM_001370372.1:c.*737_*738del, NM_001370372.1:c.*738del, NM_001370372.1:c.*738dup, NM_001370372.1:c.*737_*738dup, NM_001370372.1:c.*736_*738dup, NM_001370372.1:c.*735_*738dup, NM_001370373.1:c.*726_*738del, NM_001370373.1:c.*728_*738del, NM_001370373.1:c.*729_*738del, NM_001370373.1:c.*730_*738del, NM_001370373.1:c.*731_*738del, NM_001370373.1:c.*732_*738del, NM_001370373.1:c.*733_*738del, NM_001370373.1:c.*734_*738del, NM_001370373.1:c.*735_*738del, NM_001370373.1:c.*736_*738del, NM_001370373.1:c.*737_*738del, NM_001370373.1:c.*738del, NM_001370373.1:c.*738dup, NM_001370373.1:c.*737_*738dup, NM_001370373.1:c.*736_*738dup, NM_001370373.1:c.*735_*738dup, NM_001370371.1:c.*726_*738del, NM_001370371.1:c.*728_*738del, NM_001370371.1:c.*729_*738del, NM_001370371.1:c.*730_*738del, NM_001370371.1:c.*731_*738del, NM_001370371.1:c.*732_*738del, NM_001370371.1:c.*733_*738del, NM_001370371.1:c.*734_*738del, NM_001370371.1:c.*735_*738del, NM_001370371.1:c.*736_*738del, NM_001370371.1:c.*737_*738del, NM_001370371.1:c.*738del, NM_001370371.1:c.*738dup, NM_001370371.1:c.*737_*738dup, NM_001370371.1:c.*736_*738dup, NM_001370371.1:c.*735_*738dup, NC_000023.11:g.300061_300073del, NC_000023.11:g.300063_300073del, NC_000023.11:g.300064_300073del, NC_000023.11:g.300065_300073del, NC_000023.11:g.300066_300073del, NC_000023.11:g.300067_300073del, NC_000023.11:g.300068_300073del, NC_000023.11:g.300069_300073del, NC_000023.11:g.300070_300073del, NC_000023.11:g.300071_300073del, NC_000023.11:g.300072_300073del, NC_000023.11:g.300073del, NC_000023.11:g.300073dup, NC_000023.11:g.300072_300073dup, NC_000023.11:g.300071_300073dup, NC_000023.11:g.300070_300073dup, NC_000023.10:g.216728_216740del, NC_000023.10:g.216730_216740del, NC_000023.10:g.216731_216740del, NC_000023.10:g.216732_216740del, NC_000023.10:g.216733_216740del, NC_000023.10:g.216734_216740del, NC_000023.10:g.216735_216740del, NC_000023.10:g.216736_216740del, NC_000023.10:g.216737_216740del, NC_000023.10:g.216738_216740del, NC_000023.10:g.216739_216740del, NC_000023.10:g.216740del, NC_000023.10:g.216740dup, NC_000023.10:g.216739_216740dup, NC_000023.10:g.216738_216740dup, NC_000023.10:g.216737_216740dup, XM_011545633.4:c.*726_*738del, XM_011545633.4:c.*728_*738del, XM_011545633.4:c.*729_*738del, XM_011545633.4:c.*730_*738del, XM_011545633.4:c.*731_*738del, XM_011545633.4:c.*732_*738del, XM_011545633.4:c.*733_*738del, XM_011545633.4:c.*734_*738del, XM_011545633.4:c.*735_*738del, XM_011545633.4:c.*736_*738del, XM_011545633.4:c.*737_*738del, XM_011545633.4:c.*738del, XM_011545633.4:c.*738dup, XM_011545633.4:c.*737_*738dup, XM_011545633.4:c.*736_*738dup, XM_011545633.4:c.*735_*738dup, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAAAAAA, XM_011545633.2:c.*718_*719insAAAAAAAAAAAAAAAAAAAAAAAA, XM_024452395.2:c.*726_*738del, XM_024452395.2:c.*728_*738del, XM_024452395.2:c.*729_*738del, XM_024452395.2:c.*730_*738del, XM_024452395.2:c.*731_*738del, XM_024452395.2:c.*732_*738del, XM_024452395.2:c.*733_*738del, XM_024452395.2:c.*734_*738del, XM_024452395.2:c.*735_*738del, XM_024452395.2:c.*736_*738del, XM_024452395.2:c.*737_*738del, XM_024452395.2:c.*738del, XM_024452395.2:c.*738dup, XM_024452395.2:c.*737_*738dup, XM_024452395.2:c.*736_*738dup, XM_024452395.2:c.*735_*738dup, XM_024452491.2:c.*726_*738del, XM_024452491.2:c.*728_*738del, XM_024452491.2:c.*729_*738del, XM_024452491.2:c.*730_*738del, XM_024452491.2:c.*731_*738del, XM_024452491.2:c.*732_*738del, XM_024452491.2:c.*733_*738del, XM_024452491.2:c.*734_*738del, XM_024452491.2:c.*735_*738del, XM_024452491.2:c.*736_*738del, XM_024452491.2:c.*737_*738del, XM_024452491.2:c.*738del, XM_024452491.2:c.*738dup, XM_024452491.2:c.*737_*738dup, XM_024452491.2:c.*736_*738dup, XM_024452491.2:c.*735_*738dup, XM_047442245.1:c.*726_*738del, XM_047442245.1:c.*728_*738del, XM_047442245.1:c.*729_*738del, XM_047442245.1:c.*730_*738del, XM_047442245.1:c.*731_*738del, XM_047442245.1:c.*732_*738del, XM_047442245.1:c.*733_*738del, XM_047442245.1:c.*734_*738del, XM_047442245.1:c.*735_*738del, XM_047442245.1:c.*736_*738del, XM_047442245.1:c.*737_*738del, XM_047442245.1:c.*738del, XM_047442245.1:c.*738dup, XM_047442245.1:c.*737_*738dup, XM_047442245.1:c.*736_*738dup, XM_047442245.1:c.*735_*738dup, XM_047442244.1:c.*726_*738del, XM_047442244.1:c.*728_*738del, XM_047442244.1:c.*729_*738del, XM_047442244.1:c.*730_*738del, XM_047442244.1:c.*731_*738del, XM_047442244.1:c.*732_*738del, XM_047442244.1:c.*733_*738del, XM_047442244.1:c.*734_*738del, XM_047442244.1:c.*735_*738del, XM_047442244.1:c.*736_*738del, XM_047442244.1:c.*737_*738del, XM_047442244.1:c.*738del, XM_047442244.1:c.*738dup, XM_047442244.1:c.*737_*738dup, XM_047442244.1:c.*736_*738dup, XM_047442244.1:c.*735_*738dup, XM_047442740.1:c.*726_*738del, XM_047442740.1:c.*728_*738del, XM_047442740.1:c.*729_*738del, XM_047442740.1:c.*730_*738del, XM_047442740.1:c.*731_*738del, XM_047442740.1:c.*732_*738del, XM_047442740.1:c.*733_*738del, XM_047442740.1:c.*734_*738del, XM_047442740.1:c.*735_*738del, XM_047442740.1:c.*736_*738del, XM_047442740.1:c.*737_*738del, XM_047442740.1:c.*738del, XM_047442740.1:c.*738dup, XM_047442740.1:c.*737_*738dup, XM_047442740.1:c.*736_*738dup, XM_047442740.1:c.*735_*738dup, XM_047442741.1:c.*726_*738del, XM_047442741.1:c.*728_*738del, XM_047442741.1:c.*729_*738del, XM_047442741.1:c.*730_*738del, XM_047442741.1:c.*731_*738del, XM_047442741.1:c.*732_*738del, XM_047442741.1:c.*733_*738del, XM_047442741.1:c.*734_*738del, XM_047442741.1:c.*735_*738del, XM_047442741.1:c.*736_*738del, XM_047442741.1:c.*737_*738del, XM_047442741.1:c.*738del, XM_047442741.1:c.*738dup, XM_047442741.1:c.*737_*738dup, XM_047442741.1:c.*736_*738dup, XM_047442741.1:c.*735_*738dup

Select item 14913257429.

rs1491325742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: Y:303356 (GRCh38)
Y:170024 (GRCh37)
Canonical SPDI:: NC_000024.10:303356:T:TT
Gene:: PLCXD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.303357dup, NC_000024.9:g.170024dup, NG_016868.1:g.32034dup, NC_000023.11:g.303357dup, NC_000023.10:g.220024dup, NG_034126.1:g.20463dup

Select item 149130244910.

rs1491302449 has merged into rs1343238422 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGG [Show Flanks]
Chromosome:: Y:277939 (GRCh38)
Y:144606 (GRCh37)
Canonical SPDI:: NC_000024.10:277935:GGGGG:GGG,NC_000024.10:277935:GGGGG:GGGGGG
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
-=0.00016/3 (TOMMO)
HGVS:: NC_000024.10:g.277939_277940del, NC_000024.10:g.277940dup, NC_000024.9:g.144606_144607del, NC_000024.9:g.144607dup, NG_016868.1:g.6616_6617del, NG_016868.1:g.6617dup, NC_000023.11:g.277939_277940del, NC_000023.11:g.277940dup, NC_000023.10:g.194606_194607del, NC_000023.10:g.194607dup

Select item 149130057611.

rs1491300576 has merged into rs1281823641 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: Y:289514 (GRCh38)
Y:156181 (GRCh37)
Canonical SPDI:: NC_000024.10:289510:TTTTT:TTT,NC_000024.10:289510:TTTTT:TTTTTT,NC_000024.10:289510:TTTTT:TTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:289510:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000024.10:g.289514_289515del, NC_000024.10:g.289515dup, NC_000024.10:g.289514_289515dup, NC_000024.10:g.289513_289515dup, NC_000024.10:g.289512_289515dup, NC_000024.10:g.289511_289515dup, NC_000024.10:g.289515_289516insTTTTTT, NC_000024.10:g.289515_289516insTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTTTTTT, NC_000024.10:g.289515_289516insTTTTTTTTTTTTTTTTTTT, NC_000024.9:g.156181_156182del, NC_000024.9:g.156182dup, NC_000024.9:g.156181_156182dup, NC_000024.9:g.156180_156182dup, NC_000024.9:g.156179_156182dup, NC_000024.9:g.156178_156182dup, NC_000024.9:g.156182_156183insTTTTTT, NC_000024.9:g.156182_156183insTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTTTTTT, NC_000024.9:g.156182_156183insTTTTTTTTTTTTTTTTTTT, NG_016868.1:g.18191_18192del, NG_016868.1:g.18192dup, NG_016868.1:g.18191_18192dup, NG_016868.1:g.18190_18192dup, NG_016868.1:g.18189_18192dup, NG_016868.1:g.18188_18192dup, NG_016868.1:g.18192_18193insTTTTTT, NG_016868.1:g.18192_18193insTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTTTTTT, NG_016868.1:g.18192_18193insTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.289514_289515del, NC_000023.11:g.289515dup, NC_000023.11:g.289514_289515dup, NC_000023.11:g.289513_289515dup, NC_000023.11:g.289512_289515dup, NC_000023.11:g.289511_289515dup, NC_000023.11:g.289515_289516insTTTTTT, NC_000023.11:g.289515_289516insTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTTTTTT, NC_000023.11:g.289515_289516insTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.206181_206182del, NC_000023.10:g.206182dup, NC_000023.10:g.206181_206182dup, NC_000023.10:g.206180_206182dup, NC_000023.10:g.206179_206182dup, NC_000023.10:g.206178_206182dup, NC_000023.10:g.206182_206183insTTTTTT, NC_000023.10:g.206182_206183insTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTTTTTT, NC_000023.10:g.206182_206183insTTTTTTTTTTTTTTTTTTT

Select item 149128186712.

rs1491281867 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: Y:300052 (GRCh38)
Y:166719 (GRCh37)
Canonical SPDI:: NC_000024.10:300051:CA:
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000024.10:g.300052_300053del, NC_000024.9:g.166719_166720del, NG_016868.1:g.28729_28730del, NM_018390.4:c.*717_*718del, NM_018390.3:c.*717_*718del, NM_001370370.1:c.*717_*718del, NM_001370372.1:c.*717_*718del, NM_001370373.1:c.*717_*718del, NM_001370371.1:c.*717_*718del, NC_000023.11:g.300052_300053del, NC_000023.10:g.216719_216720del, XM_011545633.4:c.*717_*718del, XM_011545633.2:c.*717_*718del, XM_024452395.2:c.*717_*718del, XM_047442245.1:c.*717_*718del, XM_024452491.2:c.*717_*718del, XM_047442244.1:c.*717_*718del, XM_047442740.1:c.*717_*718del, XM_047442741.1:c.*717_*718del

Select item 149127693413.

rs1491276934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: Y:303358 (GRCh38)
Y:170025 (GRCh37)
Canonical SPDI:: NC_000024.10:303355:ATAT:AT
Gene:: PLCXD1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000024.10:g.303356AT[1], NC_000024.9:g.170023AT[1], NG_016868.1:g.32033AT[1], NC_000023.11:g.303356AT[1], NC_000023.10:g.220023AT[1], NG_034126.1:g.20461AT[1]

Select item 149125397714.

rs1491253977 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: Y:300588 (GRCh38)
Y:167255 (GRCh37)
Canonical SPDI:: NC_000024.10:300586:TTT:T
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
-=0.000177/3 (TOMMO)
-=0.002138/293 (GnomAD)
HGVS:: NC_000024.10:g.300588_300589del, NC_000024.9:g.167255_167256del, NG_016868.1:g.29265_29266del, NM_018390.4:c.*1253_*1254del, NM_018390.3:c.*1253_*1254del, NM_001370370.1:c.*1253_*1254del, NM_001370372.1:c.*1253_*1254del, NM_001370373.1:c.*1253_*1254del, NM_001370371.1:c.*1253_*1254del, NC_000023.11:g.300588_300589del, NC_000023.10:g.217255_217256del, XM_011545633.4:c.*1253_*1254del, XM_024452395.2:c.*1253_*1254del, XM_024452491.2:c.*1253_*1254del, XM_047442245.1:c.*1253_*1254del, XM_047442244.1:c.*1253_*1254del, XM_047442740.1:c.*1253_*1254del, XM_047442741.1:c.*1253_*1254del

Select item 149117487715.

rs1491174877 has merged into rs113086591 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: Y:283887 (GRCh38)
Y:150554 (GRCh37)
Canonical SPDI:: NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTT,NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTTT,NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTTTT,NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000024.10:283878:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.3592/1353 (1000Genomes)
HGVS:: NC_000024.10:g.283887_283890del, NC_000024.10:g.283888_283890del, NC_000024.10:g.283889_283890del, NC_000024.10:g.283890del, NC_000024.10:g.283890dup, NC_000024.10:g.283883_283890dup, NC_000024.9:g.150554_150557del, NC_000024.9:g.150555_150557del, NC_000024.9:g.150556_150557del, NC_000024.9:g.150557del, NC_000024.9:g.150557dup, NC_000024.9:g.150550_150557dup, NG_016868.1:g.12564_12567del, NG_016868.1:g.12565_12567del, NG_016868.1:g.12566_12567del, NG_016868.1:g.12567del, NG_016868.1:g.12567dup, NG_016868.1:g.12560_12567dup, NC_000023.11:g.283887_283890del, NC_000023.11:g.283888_283890del, NC_000023.11:g.283889_283890del, NC_000023.11:g.283890del, NC_000023.11:g.283890dup, NC_000023.11:g.283883_283890dup, NC_000023.10:g.200554_200557del, NC_000023.10:g.200555_200557del, NC_000023.10:g.200556_200557del, NC_000023.10:g.200557del, NC_000023.10:g.200557dup, NC_000023.10:g.200550_200557dup, XM_047442244.1:c.-168_-165del, XM_047442244.1:c.-167_-165del, XM_047442244.1:c.-166_-165del, XM_047442244.1:c.-165del, XM_047442244.1:c.-165dup, XM_047442244.1:c.-172_-165dup, XM_047442740.1:c.-168_-165del, XM_047442740.1:c.-167_-165del, XM_047442740.1:c.-166_-165del, XM_047442740.1:c.-165del, XM_047442740.1:c.-165dup, XM_047442740.1:c.-172_-165dup

Select item 149107516616.

rs1491075166 has merged into rs772068793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: Y:285382 (GRCh38)
Y:152049 (GRCh37)
Canonical SPDI:: NC_000024.10:285374:TATATATATAT:TATATAT,NC_000024.10:285374:TATATATATAT:TATATATAT,NC_000024.10:285374:TATATATATAT:TATATATATATAT
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.00344/13 (1000Genomes)
HGVS:: NC_000024.10:g.285376AT[3], NC_000024.10:g.285376AT[4], NC_000024.10:g.285376AT[6], NC_000024.9:g.152043AT[3], NC_000024.9:g.152043AT[4], NC_000024.9:g.152043AT[6], NG_016868.1:g.14053AT[3], NG_016868.1:g.14053AT[4], NG_016868.1:g.14053AT[6], NC_000023.11:g.285376AT[3], NC_000023.11:g.285376AT[4], NC_000023.11:g.285376AT[6], NC_000023.10:g.202043AT[3], NC_000023.10:g.202043AT[4], NC_000023.10:g.202043AT[6]

Select item 149099091417.

rs1490990914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:297563 (GRCh38)
Y:164230 (GRCh37)
Canonical SPDI:: NC_000024.10:297562:G:A
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00042/5 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00012/5 (GnomAD)
A=0.02136/246 (TOMMO)
HGVS:: NC_000024.10:g.297563G>A, NC_000024.9:g.164230G>A, NG_016868.1:g.26240G>A, NC_000023.11:g.297563G>A, NC_000023.10:g.214230G>A

Select item 149091116218.

rs1490911162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:282908 (GRCh38)
Y:149575 (GRCh37)
Canonical SPDI:: NC_000024.10:282907:A:G
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.282908A>G, NC_000024.9:g.149575A>G, NG_016868.1:g.11585A>G, NC_000023.11:g.282908A>G, NC_000023.10:g.199575A>G

Select item 149088044619.

rs1490880446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:282383 (GRCh38)
Y:149050 (GRCh37)
Canonical SPDI:: NC_000024.10:282382:T:A
Gene:: PLCXD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000024.10:g.282383T>A, NC_000024.9:g.149050T>A, NG_016868.1:g.11060T>A, NC_000023.11:g.282383T>A, NC_000023.10:g.199050T>A

Select item 149083792520.

rs1490837925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:286290 (GRCh38)
Y:152957 (GRCh37)
Canonical SPDI:: NC_000024.10:286289:C:G
Gene:: PLCXD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.286290C>G, NC_000024.9:g.152957C>G, NG_016868.1:g.14967C>G, NC_000023.11:g.286290C>G, NC_000023.10:g.202957C>G

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