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Select item 14912401261.

rs1491240126 has merged into rs200953251 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 16:15407811 (GRCh38)
16:15501668 (GRCh37)
Canonical SPDI:: NC_000016.10:15407801:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:15407801:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:15407801:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:15407801:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:15407801:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: MPV17L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000653/14 (ALFA)
T=0.1/4 (GENOME_DK)
T=0.12308/32578 (TOPMED)
T=0.192692/965 (1000Genomes)
HGVS:: NC_000016.10:g.15407811_15407812del, NC_000016.10:g.15407812del, NC_000016.10:g.15407812dup, NC_000016.10:g.15407811_15407812dup, NC_000016.10:g.15407810_15407812dup, NC_000016.9:g.15501668_15501669del, NC_000016.9:g.15501669del, NC_000016.9:g.15501669dup, NC_000016.9:g.15501668_15501669dup, NC_000016.9:g.15501667_15501669dup, NT_187607.1:g.1065788_1065789del, NT_187607.1:g.1065789del, NT_187607.1:g.1065789dup, NT_187607.1:g.1065788_1065789dup, NT_187607.1:g.1065787_1065789dup

Select item 14912112902.

rs1491211290 has merged into rs1242552489 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:15401100 (GRCh38)
16:15494957 (GRCh37)
Canonical SPDI:: NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15401086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0118/2 (Korea1K)
HGVS:: NC_000016.10:g.15401100_15401111del, NC_000016.10:g.15401102_15401111del, NC_000016.10:g.15401103_15401111del, NC_000016.10:g.15401104_15401111del, NC_000016.10:g.15401105_15401111del, NC_000016.10:g.15401106_15401111del, NC_000016.10:g.15401107_15401111del, NC_000016.10:g.15401108_15401111del, NC_000016.10:g.15401109_15401111del, NC_000016.10:g.15401110_15401111del, NC_000016.10:g.15401111del, NC_000016.10:g.15401111dup, NC_000016.10:g.15401110_15401111dup, NC_000016.10:g.15401109_15401111dup, NC_000016.10:g.15401108_15401111dup, NC_000016.10:g.15401107_15401111dup, NC_000016.10:g.15401106_15401111dup, NC_000016.10:g.15401105_15401111dup, NC_000016.10:g.15401104_15401111dup, NC_000016.10:g.15401103_15401111dup, NC_000016.10:g.15401102_15401111dup, NC_000016.10:g.15401101_15401111dup, NC_000016.10:g.15401097_15401111dup, NC_000016.9:g.15494957_15494968del, NC_000016.9:g.15494959_15494968del, NC_000016.9:g.15494960_15494968del, NC_000016.9:g.15494961_15494968del, NC_000016.9:g.15494962_15494968del, NC_000016.9:g.15494963_15494968del, NC_000016.9:g.15494964_15494968del, NC_000016.9:g.15494965_15494968del, NC_000016.9:g.15494966_15494968del, NC_000016.9:g.15494967_15494968del, NC_000016.9:g.15494968del, NC_000016.9:g.15494968dup, NC_000016.9:g.15494967_15494968dup, NC_000016.9:g.15494966_15494968dup, NC_000016.9:g.15494965_15494968dup, NC_000016.9:g.15494964_15494968dup, NC_000016.9:g.15494963_15494968dup, NC_000016.9:g.15494962_15494968dup, NC_000016.9:g.15494961_15494968dup, NC_000016.9:g.15494960_15494968dup, NC_000016.9:g.15494959_15494968dup, NC_000016.9:g.15494958_15494968dup, NC_000016.9:g.15494954_15494968dup, NT_187607.1:g.1059072_1059083del, NT_187607.1:g.1059074_1059083del, NT_187607.1:g.1059075_1059083del, NT_187607.1:g.1059076_1059083del, NT_187607.1:g.1059077_1059083del, NT_187607.1:g.1059078_1059083del, NT_187607.1:g.1059079_1059083del, NT_187607.1:g.1059080_1059083del, NT_187607.1:g.1059081_1059083del, NT_187607.1:g.1059082_1059083del, NT_187607.1:g.1059083del, NT_187607.1:g.1059083dup, NT_187607.1:g.1059082_1059083dup, NT_187607.1:g.1059081_1059083dup, NT_187607.1:g.1059080_1059083dup, NT_187607.1:g.1059079_1059083dup, NT_187607.1:g.1059078_1059083dup, NT_187607.1:g.1059077_1059083dup, NT_187607.1:g.1059076_1059083dup, NT_187607.1:g.1059075_1059083dup, NT_187607.1:g.1059074_1059083dup, NT_187607.1:g.1059073_1059083dup, NT_187607.1:g.1059069_1059083dup

Select item 14911073743.

rs1491107374 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATAGATTTTTTTTT,ATATATATATATATATT,ATATATATATATATT,ATATATATATATATTT,ATATATATATATT,ATATATATATATTT,ATATATATATATTTTT,ATATATATATATTTTTTTTT,ATATATATATT,ATATATATATTT,ATATATATATTTT,ATATATATATTTTT,ATATATATATTTTTT,ATATATATT,ATATATATTT,ATATATATTTT,ATATATATTTTT,ATATATATTTTTT,ATATATATTTTTTT,ATATATATTTTTTTTTT,ATATATATTTTTTTTTTTTTT,ATATATT,ATATATTT,ATATATTTT,ATATATTTTT,ATATATTTTTT,ATATATTTTTTT,ATATATTTTTTTTTTTT,ATATT,ATATTT,ATATTTT,ATATTTTT,ATATTTTTT,ATATTTTTTT,ATATTTTTTTT,ATT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTT,ATTTTTTTT,ATTTTTTTTT,ATTTTTTTTTT [Show Flanks]
Chromosome:: 16:15401086 (GRCh38)
16:15494944 (GRCh37)
Canonical SPDI:: NC_000016.10:15401086:T:TATATATATATAGATTTTTTTTT,NC_000016.10:15401086:T:TATATATATATATATATT,NC_000016.10:15401086:T:TATATATATATATATT,NC_000016.10:15401086:T:TATATATATATATATTT,NC_000016.10:15401086:T:TATATATATATATT,NC_000016.10:15401086:T:TATATATATATATTT,NC_000016.10:15401086:T:TATATATATATATTTTT,NC_000016.10:15401086:T:TATATATATATATTTTTTTTT,NC_000016.10:15401086:T:TATATATATATT,NC_000016.10:15401086:T:TATATATATATTT,NC_000016.10:15401086:T:TATATATATATTTT,NC_000016.10:15401086:T:TATATATATATTTTT,NC_000016.10:15401086:T:TATATATATATTTTTT,NC_000016.10:15401086:T:TATATATATT,NC_000016.10:15401086:T:TATATATATTT,NC_000016.10:15401086:T:TATATATATTTT,NC_000016.10:15401086:T:TATATATATTTTT,NC_000016.10:15401086:T:TATATATATTTTTT,NC_000016.10:15401086:T:TATATATATTTTTTT,NC_000016.10:15401086:T:TATATATATTTTTTTTTT,NC_000016.10:15401086:T:TATATATATTTTTTTTTTTTTT,NC_000016.10:15401086:T:TATATATT,NC_000016.10:15401086:T:TATATATTT,NC_000016.10:15401086:T:TATATATTTT,NC_000016.10:15401086:T:TATATATTTTT,NC_000016.10:15401086:T:TATATATTTTTT,NC_000016.10:15401086:T:TATATATTTTTTT,NC_000016.10:15401086:T:TATATATTTTTTTTTTTT,NC_000016.10:15401086:T:TATATT,NC_000016.10:15401086:T:TATATTT,NC_000016.10:15401086:T:TATATTTT,NC_000016.10:15401086:T:TATATTTTT,NC_000016.10:15401086:T:TATATTTTTT,NC_000016.10:15401086:T:TATATTTTTTT,NC_000016.10:15401086:T:TATATTTTTTTT,NC_000016.10:15401086:T:TATT,NC_000016.10:15401086:T:TATTT,NC_000016.10:15401086:T:TATTTT,NC_000016.10:15401086:T:TATTTTT,NC_000016.10:15401086:T:TATTTTTT,NC_000016.10:15401086:T:TATTTTTTT,NC_000016.10:15401086:T:TATTTTTTTT,NC_000016.10:15401086:T:TATTTTTTTTT,NC_000016.10:15401086:T:TATTTTTTTTTT
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATT=0./0 (ALFA)
TATTT=0.01647/420 (TOMMO)
HGVS:: NC_000016.10:g.15401087TA[6]GATTTTTTTTT[1], NC_000016.10:g.15401087TA[8]TT[1], NC_000016.10:g.15401087TA[7]TT[1], NC_000016.10:g.15401087TA[7]TTT[1], NC_000016.10:g.15401087TA[6]TT[1], NC_000016.10:g.15401087TA[6]TTT[1], NC_000016.10:g.15401087TA[6]T[5], NC_000016.10:g.15401087TA[6]T[9], NC_000016.10:g.15401087TA[5]TT[1], NC_000016.10:g.15401087TA[5]TTT[1], NC_000016.10:g.15401087TA[5]T[4], NC_000016.10:g.15401087TA[5]T[5], NC_000016.10:g.15401087TA[5]T[6], NC_000016.10:g.15401087TA[4]TT[1], NC_000016.10:g.15401087TA[4]TTT[1], NC_000016.10:g.15401087TA[4]T[4], NC_000016.10:g.15401087TA[4]T[5], NC_000016.10:g.15401087TA[4]T[6], NC_000016.10:g.15401087TA[4]T[7], NC_000016.10:g.15401087TA[4]T[10], NC_000016.10:g.15401087TA[4]T[14], NC_000016.10:g.15401087TA[3]TT[1], NC_000016.10:g.15401087TA[3]TTT[1], NC_000016.10:g.15401087TA[3]T[4], NC_000016.10:g.15401087TA[3]T[5], NC_000016.10:g.15401087TA[3]T[6], NC_000016.10:g.15401087TA[3]T[7], NC_000016.10:g.15401087TA[3]T[12], NC_000016.10:g.15401087TA[2]TT[1], NC_000016.10:g.15401087TA[2]TTT[1], NC_000016.10:g.15401087TA[2]T[4], NC_000016.10:g.15401087TA[2]T[5], NC_000016.10:g.15401087TA[2]T[6], NC_000016.10:g.15401087TA[2]T[7], NC_000016.10:g.15401087TA[2]T[8], NC_000016.10:g.15401087_15401088insATT, NC_000016.10:g.15401087_15401088insATTT, NC_000016.10:g.15401087_15401088insATTTT, NC_000016.10:g.15401087_15401088insATTTTT, NC_000016.10:g.15401087_15401088insATTTTTT, NC_000016.10:g.15401087_15401088insATTTTTTT, NC_000016.10:g.15401087_15401088insATTTTTTTT, NC_000016.10:g.15401087_15401088insATTTTTTTTT, NC_000016.10:g.15401087_15401088insATTTTTTTTTT, NC_000016.9:g.15494944TA[6]GATTTTTTTTT[1], NC_000016.9:g.15494944TA[8]TT[1], NC_000016.9:g.15494944TA[7]TT[1], NC_000016.9:g.15494944TA[7]TTT[1], NC_000016.9:g.15494944TA[6]TT[1], NC_000016.9:g.15494944TA[6]TTT[1], NC_000016.9:g.15494944TA[6]T[5], NC_000016.9:g.15494944TA[6]T[9], NC_000016.9:g.15494944TA[5]TT[1], NC_000016.9:g.15494944TA[5]TTT[1], NC_000016.9:g.15494944TA[5]T[4], NC_000016.9:g.15494944TA[5]T[5], NC_000016.9:g.15494944TA[5]T[6], NC_000016.9:g.15494944TA[4]TT[1], NC_000016.9:g.15494944TA[4]TTT[1], NC_000016.9:g.15494944TA[4]T[4], NC_000016.9:g.15494944TA[4]T[5], NC_000016.9:g.15494944TA[4]T[6], NC_000016.9:g.15494944TA[4]T[7], NC_000016.9:g.15494944TA[4]T[10], NC_000016.9:g.15494944TA[4]T[14], NC_000016.9:g.15494944TA[3]TT[1], NC_000016.9:g.15494944TA[3]TTT[1], NC_000016.9:g.15494944TA[3]T[4], NC_000016.9:g.15494944TA[3]T[5], NC_000016.9:g.15494944TA[3]T[6], NC_000016.9:g.15494944TA[3]T[7], NC_000016.9:g.15494944TA[3]T[12], NC_000016.9:g.15494944TA[2]TT[1], NC_000016.9:g.15494944TA[2]TTT[1], NC_000016.9:g.15494944TA[2]T[4], NC_000016.9:g.15494944TA[2]T[5], NC_000016.9:g.15494944TA[2]T[6], NC_000016.9:g.15494944TA[2]T[7], NC_000016.9:g.15494944TA[2]T[8], NC_000016.9:g.15494944_15494945insATT, NC_000016.9:g.15494944_15494945insATTT, NC_000016.9:g.15494944_15494945insATTTT, NC_000016.9:g.15494944_15494945insATTTTT, NC_000016.9:g.15494944_15494945insATTTTTT, NC_000016.9:g.15494944_15494945insATTTTTTT, NC_000016.9:g.15494944_15494945insATTTTTTTT, NC_000016.9:g.15494944_15494945insATTTTTTTTT, NC_000016.9:g.15494944_15494945insATTTTTTTTTT, NT_187607.1:g.1059054_1059059T[6]AT[5]AGATTTTTTTTT[1], NT_187607.1:g.1059059_1059060insATATATATATATATATT, NT_187607.1:g.1059059_1059060insATATATATATATATT, NT_187607.1:g.1059059_1059060insATATATATATATATTT, NT_187607.1:g.1059059_1059060insATATATATATATT, NT_187607.1:g.1059059_1059060insATATATATATATTT, NT_187607.1:g.1059055_1059059T[5]AT[6]T[4], NT_187607.1:g.1059054_1059059T[6]AT[6]T[8], NT_187607.1:g.1059059_1059060insATATATATATT, NT_187607.1:g.1059059_1059060insATATATATATTT, NT_187607.1:g.1059056_1059059T[4]AT[5]TTT[1], NT_187607.1:g.1059055_1059059T[5]AT[5]T[4], NT_187607.1:g.1059045_1059059dup, NT_187607.1:g.1059059_1059060insATATATATT, NT_187607.1:g.1059059_1059060insATATATATTT, NT_187607.1:g.1059056_1059059T[4]AT[4]TTT[1], NT_187607.1:g.1059055_1059059T[5]AT[4]T[4], NT_187607.1:g.1059047_1059059dup, NT_187607.1:g.1059054_1059059T[6]AT[4]T[6], NT_187607.1:g.1059054_1059059T[6]AT[4]T[9], NT_187607.1:g.1059054_1059059T[6]AT[4]T[13], NT_187607.1:g.1059059_1059060insATATATT, NT_187607.1:g.1059059_1059060insATATATTT, NT_187607.1:g.1059056_1059059T[4]AT[3]TTT[1], NT_187607.1:g.1059055_1059059T[5]AT[3]T[4], NT_187607.1:g.1059049_1059059dup, NT_187607.1:g.1059054_1059059T[6]AT[3]T[6], NT_187607.1:g.1059054_1059059T[6]AT[3]T[11], NT_187607.1:g.1059059_1059060insATATT, NT_187607.1:g.1059059_1059060insATATTT, NT_187607.1:g.1059056_1059059T[4]AT[2]TTT[1], NT_187607.1:g.1059055_1059059T[5]AT[2]T[4], NT_187607.1:g.1059051_1059059dup, NT_187607.1:g.1059054_1059059T[6]AT[2]T[6], NT_187607.1:g.1059054_1059059T[6]AT[2]T[7], NT_187607.1:g.1059059_1059060insATT, NT_187607.1:g.1059059_1059060insATTT, NT_187607.1:g.1059056_1059059T[4]ATTTT[1], NT_187607.1:g.1059055_1059059T[5]ATTTTT[1], NT_187607.1:g.1059053_1059059dup, NT_187607.1:g.1059054_1059059T[6]ATTTTTTT[1], NT_187607.1:g.1059054_1059059T[6]ATTTTTTTT[1], NT_187607.1:g.1059054_1059059T[6]ATTTTTTTTT[1], NT_187607.1:g.1059054_1059059T[6]ATTTTTTTTTT[1]

Select item 14910434014.

rs1491043401 has merged into rs71152421 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:15409092 (GRCh38)
16:15502949 (GRCh37)
Canonical SPDI:: NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15409079:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.15409092_15409099del, NC_000016.10:g.15409095_15409099del, NC_000016.10:g.15409097_15409099del, NC_000016.10:g.15409098_15409099del, NC_000016.10:g.15409099del, NC_000016.10:g.15409099dup, NC_000016.10:g.15409098_15409099dup, NC_000016.10:g.15409097_15409099dup, NC_000016.10:g.15409096_15409099dup, NC_000016.10:g.15409095_15409099dup, NC_000016.10:g.15409094_15409099dup, NC_000016.9:g.15502949_15502956del, NC_000016.9:g.15502952_15502956del, NC_000016.9:g.15502954_15502956del, NC_000016.9:g.15502955_15502956del, NC_000016.9:g.15502956del, NC_000016.9:g.15502956dup, NC_000016.9:g.15502955_15502956dup, NC_000016.9:g.15502954_15502956dup, NC_000016.9:g.15502953_15502956dup, NC_000016.9:g.15502952_15502956dup, NC_000016.9:g.15502951_15502956dup, NT_187607.1:g.1067071_1067078del, NT_187607.1:g.1067074_1067078del, NT_187607.1:g.1067076_1067078del, NT_187607.1:g.1067077_1067078del, NT_187607.1:g.1067078del, NT_187607.1:g.1067078dup, NT_187607.1:g.1067077_1067078dup, NT_187607.1:g.1067076_1067078dup, NT_187607.1:g.1067075_1067078dup, NT_187607.1:g.1067074_1067078dup, NT_187607.1:g.1067073_1067078dup, NM_173803.4:c.*1056_*1063del, NM_173803.4:c.*1059_*1063del, NM_173803.4:c.*1061_*1063del, NM_173803.4:c.*1062_*1063del, NM_173803.4:c.*1063del, NM_173803.4:c.*1063dup, NM_173803.4:c.*1062_*1063dup, NM_173803.4:c.*1061_*1063dup, NM_173803.4:c.*1060_*1063dup, NM_173803.4:c.*1059_*1063dup, NM_173803.4:c.*1058_*1063dup, NM_173803.3:c.*1056_*1063del, NM_173803.3:c.*1059_*1063del, NM_173803.3:c.*1061_*1063del, NM_173803.3:c.*1062_*1063del, NM_173803.3:c.*1063del, NM_173803.3:c.*1063dup, NM_173803.3:c.*1062_*1063dup, NM_173803.3:c.*1061_*1063dup, NM_173803.3:c.*1060_*1063dup, NM_173803.3:c.*1059_*1063dup, NM_173803.3:c.*1058_*1063dup, NM_001128423.2:c.*980_*987del, NM_001128423.2:c.*983_*987del, NM_001128423.2:c.*985_*987del, NM_001128423.2:c.*986_*987del, NM_001128423.2:c.*987del, NM_001128423.2:c.*987dup, NM_001128423.2:c.*986_*987dup, NM_001128423.2:c.*985_*987dup, NM_001128423.2:c.*984_*987dup, NM_001128423.2:c.*983_*987dup, NM_001128423.2:c.*982_*987dup, NM_001128423.1:c.*980_*987del, NM_001128423.1:c.*983_*987del, NM_001128423.1:c.*985_*987del, NM_001128423.1:c.*986_*987del, NM_001128423.1:c.*987del, NM_001128423.1:c.*987dup, NM_001128423.1:c.*986_*987dup, NM_001128423.1:c.*985_*987dup, NM_001128423.1:c.*984_*987dup, NM_001128423.1:c.*983_*987dup, NM_001128423.1:c.*982_*987dup

Select item 14910230975.

rs1491023097 has merged into rs4013478 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:15408612 (GRCh38)
16:15502469 (GRCh37)
Canonical SPDI:: NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:15408601:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.15408612_15408622del, NC_000016.10:g.15408617_15408622del, NC_000016.10:g.15408618_15408622del, NC_000016.10:g.15408619_15408622del, NC_000016.10:g.15408620_15408622del, NC_000016.10:g.15408621_15408622del, NC_000016.10:g.15408622del, NC_000016.10:g.15408622dup, NC_000016.10:g.15408621_15408622dup, NC_000016.10:g.15408620_15408622dup, NC_000016.10:g.15408619_15408622dup, NC_000016.10:g.15408618_15408622dup, NC_000016.10:g.15408617_15408622dup, NC_000016.10:g.15408616_15408622dup, NC_000016.10:g.15408615_15408622dup, NC_000016.10:g.15408614_15408622dup, NC_000016.10:g.15408613_15408622dup, NC_000016.10:g.15408612_15408622dup, NC_000016.10:g.15408611_15408622dup, NC_000016.10:g.15408610_15408622dup, NC_000016.10:g.15408608_15408622dup, NC_000016.10:g.15408607_15408622dup, NC_000016.10:g.15408606_15408622dup, NC_000016.10:g.15408622_15408623insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.15408622_15408623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.15502469_15502479del, NC_000016.9:g.15502474_15502479del, NC_000016.9:g.15502475_15502479del, NC_000016.9:g.15502476_15502479del, NC_000016.9:g.15502477_15502479del, NC_000016.9:g.15502478_15502479del, NC_000016.9:g.15502479del, NC_000016.9:g.15502479dup, NC_000016.9:g.15502478_15502479dup, NC_000016.9:g.15502477_15502479dup, NC_000016.9:g.15502476_15502479dup, NC_000016.9:g.15502475_15502479dup, NC_000016.9:g.15502474_15502479dup, NC_000016.9:g.15502473_15502479dup, NC_000016.9:g.15502472_15502479dup, NC_000016.9:g.15502471_15502479dup, NC_000016.9:g.15502470_15502479dup, NC_000016.9:g.15502469_15502479dup, NC_000016.9:g.15502468_15502479dup, NC_000016.9:g.15502467_15502479dup, NC_000016.9:g.15502465_15502479dup, NC_000016.9:g.15502464_15502479dup, NC_000016.9:g.15502463_15502479dup, NC_000016.9:g.15502479_15502480insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.15502479_15502480insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187607.1:g.1066590_1066600del, NT_187607.1:g.1066595_1066600del, NT_187607.1:g.1066596_1066600del, NT_187607.1:g.1066597_1066600del, NT_187607.1:g.1066598_1066600del, NT_187607.1:g.1066599_1066600del, NT_187607.1:g.1066600del, NT_187607.1:g.1066600dup, NT_187607.1:g.1066599_1066600dup, NT_187607.1:g.1066598_1066600dup, NT_187607.1:g.1066597_1066600dup, NT_187607.1:g.1066596_1066600dup, NT_187607.1:g.1066595_1066600dup, NT_187607.1:g.1066594_1066600dup, NT_187607.1:g.1066593_1066600dup, NT_187607.1:g.1066592_1066600dup, NT_187607.1:g.1066591_1066600dup, NT_187607.1:g.1066590_1066600dup, NT_187607.1:g.1066589_1066600dup, NT_187607.1:g.1066588_1066600dup, NT_187607.1:g.1066586_1066600dup, NT_187607.1:g.1066585_1066600dup, NT_187607.1:g.1066584_1066600dup, NT_187607.1:g.1066600_1066601insTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187607.1:g.1066600_1066601insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173803.4:c.*576_*586del, NM_173803.4:c.*581_*586del, NM_173803.4:c.*582_*586del, NM_173803.4:c.*583_*586del, NM_173803.4:c.*584_*586del, NM_173803.4:c.*585_*586del, NM_173803.4:c.*586del, NM_173803.4:c.*586dup, NM_173803.4:c.*585_*586dup, NM_173803.4:c.*584_*586dup, NM_173803.4:c.*583_*586dup, NM_173803.4:c.*582_*586dup, NM_173803.4:c.*581_*586dup, NM_173803.4:c.*580_*586dup, NM_173803.4:c.*579_*586dup, NM_173803.4:c.*578_*586dup, NM_173803.4:c.*577_*586dup, NM_173803.4:c.*576_*586dup, NM_173803.4:c.*575_*586dup, NM_173803.4:c.*574_*586dup, NM_173803.4:c.*572_*586dup, NM_173803.4:c.*571_*586dup, NM_173803.4:c.*570_*586dup, NM_173803.4:c.*586_*587insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173803.4:c.*586_*587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173803.3:c.*576_*586del, NM_173803.3:c.*581_*586del, NM_173803.3:c.*582_*586del, NM_173803.3:c.*583_*586del, NM_173803.3:c.*584_*586del, NM_173803.3:c.*585_*586del, NM_173803.3:c.*586del, NM_173803.3:c.*586dup, NM_173803.3:c.*585_*586dup, NM_173803.3:c.*584_*586dup, NM_173803.3:c.*583_*586dup, NM_173803.3:c.*582_*586dup, NM_173803.3:c.*581_*586dup, NM_173803.3:c.*580_*586dup, NM_173803.3:c.*579_*586dup, NM_173803.3:c.*578_*586dup, NM_173803.3:c.*577_*586dup, NM_173803.3:c.*576_*586dup, NM_173803.3:c.*575_*586dup, NM_173803.3:c.*574_*586dup, NM_173803.3:c.*572_*586dup, NM_173803.3:c.*571_*586dup, NM_173803.3:c.*570_*586dup, NM_173803.3:c.*586_*587insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_173803.3:c.*586_*587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128423.2:c.*500_*510del, NM_001128423.2:c.*505_*510del, NM_001128423.2:c.*506_*510del, NM_001128423.2:c.*507_*510del, NM_001128423.2:c.*508_*510del, NM_001128423.2:c.*509_*510del, NM_001128423.2:c.*510del, NM_001128423.2:c.*510dup, NM_001128423.2:c.*509_*510dup, NM_001128423.2:c.*508_*510dup, NM_001128423.2:c.*507_*510dup, NM_001128423.2:c.*506_*510dup, NM_001128423.2:c.*505_*510dup, NM_001128423.2:c.*504_*510dup, NM_001128423.2:c.*503_*510dup, NM_001128423.2:c.*502_*510dup, NM_001128423.2:c.*501_*510dup, NM_001128423.2:c.*500_*510dup, NM_001128423.2:c.*499_*510dup, NM_001128423.2:c.*498_*510dup, NM_001128423.2:c.*496_*510dup, NM_001128423.2:c.*495_*510dup, NM_001128423.2:c.*494_*510dup, NM_001128423.2:c.*510_*511insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128423.2:c.*510_*511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128423.1:c.*500_*510del, NM_001128423.1:c.*505_*510del, NM_001128423.1:c.*506_*510del, NM_001128423.1:c.*507_*510del, NM_001128423.1:c.*508_*510del, NM_001128423.1:c.*509_*510del, NM_001128423.1:c.*510del, NM_001128423.1:c.*510dup, NM_001128423.1:c.*509_*510dup, NM_001128423.1:c.*508_*510dup, NM_001128423.1:c.*507_*510dup, NM_001128423.1:c.*506_*510dup, NM_001128423.1:c.*505_*510dup, NM_001128423.1:c.*504_*510dup, NM_001128423.1:c.*503_*510dup, NM_001128423.1:c.*502_*510dup, NM_001128423.1:c.*501_*510dup, NM_001128423.1:c.*500_*510dup, NM_001128423.1:c.*499_*510dup, NM_001128423.1:c.*498_*510dup, NM_001128423.1:c.*496_*510dup, NM_001128423.1:c.*495_*510dup, NM_001128423.1:c.*494_*510dup, NM_001128423.1:c.*510_*511insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128423.1:c.*510_*511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908673216.

rs1490867321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:15409954 (GRCh38)
16:15503811 (GRCh37)
Canonical SPDI:: NC_000016.10:15409953:C:T
Gene:: MPV17L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.15409954C>T, NC_000016.9:g.15503811C>T, NT_187607.1:g.1067933C>T, NM_173803.4:c.*1918C>T, NM_001128423.2:c.*1842C>T

Select item 14906981707.

rs1490698170 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCA [Show Flanks]
Chromosome:: 16:15394109 (GRCh38)
16:15487967 (GRCh37)
Canonical SPDI:: NC_000016.10:15394109:CACCACCA:CACCACCACCA
Gene:: MPV17L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCACCACCA=0./0 (ALFA)
CAC=0.000007/1 (GnomAD)
CAC=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.15394112CCA[3], NC_000016.9:g.15487969CCA[3], NT_187607.1:g.1052075CCA[3]

Select item 14906810118.

rs1490681011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:15405943 (GRCh38)
16:15499800 (GRCh37)
Canonical SPDI:: NC_000016.10:15405942:C:T
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15405943C>T, NC_000016.9:g.15499800C>T, NT_187607.1:g.1063919C>T

Select item 14906262619.

rs1490626261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:15399095 (GRCh38)
16:15492952 (GRCh37)
Canonical SPDI:: NC_000016.10:15399094:C:T
Gene:: MPV17L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15399095C>T, NC_000016.9:g.15492952C>T, NT_187607.1:g.1057060C>T

Select item 149015858610.

rs1490158586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:15407277 (GRCh38)
16:15501134 (GRCh37)
Canonical SPDI:: NC_000016.10:15407276:C:A
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.15407277C>A, NC_000016.9:g.15501134C>A, NT_187607.1:g.1065253C>A

Select item 149002487011.

rs1490024870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:15406749 (GRCh38)
16:15500606 (GRCh37)
Canonical SPDI:: NC_000016.10:15406748:A:T
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.15406749A>T, NC_000016.9:g.15500606A>T, NT_187607.1:g.1064725A>T

Select item 148988102112.

rs1489881021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:15394510 (GRCh38)
16:15488367 (GRCh37)
Canonical SPDI:: NC_000016.10:15394509:T:C
Gene:: MPV17L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15394510T>C, NC_000016.9:g.15488367T>C, NT_187607.1:g.1052473T>C

Select item 148986222413.

rs1489862224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:15406362 (GRCh38)
16:15500219 (GRCh37)
Canonical SPDI:: NC_000016.10:15406361:A:G
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.15406362A>G, NC_000016.9:g.15500219A>G, NT_187607.1:g.1064338A>G

Select item 148981096014.

rs1489810960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:15399536 (GRCh38)
16:15493393 (GRCh37)
Canonical SPDI:: NC_000016.10:15399535:G:A
Gene:: MPV17L (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.15399536G>A, NC_000016.9:g.15493393G>A, NT_187607.1:g.1057501G>A, XM_017023108.2:c.*71G>A, XM_017023108.1:c.*71G>A

Select item 148961973615.

rs1489619736 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:15403387 (GRCh38)
16:15497245 (GRCh37)
Canonical SPDI:: NC_000016.10:15403387::C
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.15403387_15403388insC, NC_000016.9:g.15497244_15497245insC, NT_187607.1:g.1061363_1061364insC

Select item 148947735516.

rs1489477355 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 16:15397635 (GRCh38)
16:15491492 (GRCh37)
Canonical SPDI:: NC_000016.10:15397634:AAA:AA
Gene:: MPV17L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15397637del, NC_000016.9:g.15491494del, NT_187607.1:g.1055600del

Select item 148941095717.

rs1489410957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:15395594 (GRCh38)
16:15489451 (GRCh37)
Canonical SPDI:: NC_000016.10:15395593:A:T
Gene:: MPV17L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.15395594A>T, NC_000016.9:g.15489451A>T, NT_187607.1:g.1053557A>T

Select item 148931850518.

rs1489318505 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTTTT>- [Show Flanks]
Chromosome:: 16:15394891 (GRCh38)
16:15488748 (GRCh37)
Canonical SPDI:: NC_000016.10:15394887:TTTCTTTTTTT:TTT
Gene:: MPV17L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.00008/1 (ALFA)
-=0.00007/5 (GnomAD)
HGVS:: NC_000016.10:g.15394891_15394898del, NC_000016.9:g.15488748_15488755del, NT_187607.1:g.1052854T>C, NT_187607.1:g.1052865_1052872del

Select item 148931683919.

rs1489316839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:15401001 (GRCh38)
16:15494858 (GRCh37)
Canonical SPDI:: NC_000016.10:15401000:A:G
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000016.10:g.15401001A>G, NC_000016.9:g.15494858A>G, NT_187607.1:g.1058966A>G

Select item 148919457820.

rs1489194578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:15404928 (GRCh38)
16:15498785 (GRCh37)
Canonical SPDI:: NC_000016.10:15404927:A:G
Gene:: MPV17L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.15404928A>G, NC_000016.9:g.15498785A>G, NT_187607.1:g.1062904A>G

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