SNP Links for Gene (Select 92399) - SNP

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Select item 14914993471.

rs1491499347 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:122275095 (GRCh38)
9:125037374 (GRCh37)
Canonical SPDI:: NC_000009.12:122275094:CT:
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003119/37 (ALFA)
-=0.001874/12 (1000Genomes)
-=0.004104/560 (GnomAD)
HGVS:: NC_000009.12:g.122275095_122275096del, NC_000009.11:g.125037374_125037375del, NG_051806.1:g.15493_15494del

Select item 14914842402.

rs1491484240 has merged into rs200378532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 9:122275107 (GRCh38)
9:125037386 (GRCh37)
Canonical SPDI:: NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122275095:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.122275107_122275109del, NC_000009.12:g.122275108_122275109del, NC_000009.12:g.122275109del, NC_000009.12:g.122275109dup, NC_000009.12:g.122275108_122275109dup, NC_000009.12:g.122275107_122275109dup, NC_000009.11:g.125037386_125037388del, NC_000009.11:g.125037387_125037388del, NC_000009.11:g.125037388del, NC_000009.11:g.125037388dup, NC_000009.11:g.125037387_125037388dup, NC_000009.11:g.125037386_125037388dup, NG_051806.1:g.15505_15507del, NG_051806.1:g.15506_15507del, NG_051806.1:g.15507del, NG_051806.1:g.15507dup, NG_051806.1:g.15506_15507dup, NG_051806.1:g.15505_15507dup

Select item 14914639223.

rs1491463922 has merged into rs765131163 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 9:122274552 (GRCh38)
9:125036831 (GRCh37)
Canonical SPDI:: NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:122274533:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.4994/2501 (1000Genomes)
GTGTGTGTGT=0.5/20 (GENOME_DK)
HGVS:: NC_000009.12:g.122274534GT[9], NC_000009.12:g.122274534GT[10], NC_000009.12:g.122274534GT[11], NC_000009.12:g.122274534GT[13], NC_000009.12:g.122274534GT[14], NC_000009.12:g.122274534GT[15], NC_000009.12:g.122274534GT[16], NC_000009.12:g.122274534GT[17], NC_000009.12:g.122274534GT[18], NC_000009.12:g.122274534GT[19], NC_000009.12:g.122274534GT[20], NC_000009.12:g.122274534GT[22], NC_000009.12:g.122274534GT[23], NC_000009.12:g.122274534GT[24], NC_000009.12:g.122274534GT[25], NC_000009.12:g.122274534GT[26], NC_000009.12:g.122274534GT[27], NC_000009.12:g.122274534GT[28], NC_000009.12:g.122274534GT[29], NC_000009.12:g.122274534GT[30], NC_000009.12:g.122274534GT[31], NC_000009.12:g.122274534GT[32], NC_000009.12:g.122274534GT[35], NC_000009.11:g.125036813GT[9], NC_000009.11:g.125036813GT[10], NC_000009.11:g.125036813GT[11], NC_000009.11:g.125036813GT[13], NC_000009.11:g.125036813GT[14], NC_000009.11:g.125036813GT[15], NC_000009.11:g.125036813GT[16], NC_000009.11:g.125036813GT[17], NC_000009.11:g.125036813GT[18], NC_000009.11:g.125036813GT[19], NC_000009.11:g.125036813GT[20], NC_000009.11:g.125036813GT[22], NC_000009.11:g.125036813GT[23], NC_000009.11:g.125036813GT[24], NC_000009.11:g.125036813GT[25], NC_000009.11:g.125036813GT[26], NC_000009.11:g.125036813GT[27], NC_000009.11:g.125036813GT[28], NC_000009.11:g.125036813GT[29], NC_000009.11:g.125036813GT[30], NC_000009.11:g.125036813GT[31], NC_000009.11:g.125036813GT[32], NC_000009.11:g.125036813GT[35], NG_051806.1:g.14932GT[9], NG_051806.1:g.14932GT[10], NG_051806.1:g.14932GT[11], NG_051806.1:g.14932GT[13], NG_051806.1:g.14932GT[14], NG_051806.1:g.14932GT[15], NG_051806.1:g.14932GT[16], NG_051806.1:g.14932GT[17], NG_051806.1:g.14932GT[18], NG_051806.1:g.14932GT[19], NG_051806.1:g.14932GT[20], NG_051806.1:g.14932GT[22], NG_051806.1:g.14932GT[23], NG_051806.1:g.14932GT[24], NG_051806.1:g.14932GT[25], NG_051806.1:g.14932GT[26], NG_051806.1:g.14932GT[27], NG_051806.1:g.14932GT[28], NG_051806.1:g.14932GT[29], NG_051806.1:g.14932GT[30], NG_051806.1:g.14932GT[31], NG_051806.1:g.14932GT[32], NG_051806.1:g.14932GT[35]

Select item 14914135714.

rs1491413571 has merged into rs35949709 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:122319155 (GRCh38)
9:125081434 (GRCh37)
Canonical SPDI:: NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122319147:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.122319155_122319168del, NC_000009.12:g.122319156_122319168del, NC_000009.12:g.122319157_122319168del, NC_000009.12:g.122319158_122319168del, NC_000009.12:g.122319159_122319168del, NC_000009.12:g.122319160_122319168del, NC_000009.12:g.122319161_122319168del, NC_000009.12:g.122319162_122319168del, NC_000009.12:g.122319163_122319168del, NC_000009.12:g.122319164_122319168del, NC_000009.12:g.122319165_122319168del, NC_000009.12:g.122319166_122319168del, NC_000009.12:g.122319167_122319168del, NC_000009.12:g.122319168del, NC_000009.12:g.122319168dup, NC_000009.12:g.122319167_122319168dup, NC_000009.12:g.122319166_122319168dup, NC_000009.12:g.122319165_122319168dup, NC_000009.12:g.122319164_122319168dup, NC_000009.12:g.122319163_122319168dup, NC_000009.12:g.122319162_122319168dup, NC_000009.12:g.122319161_122319168dup, NC_000009.12:g.122319160_122319168dup, NC_000009.12:g.122319159_122319168dup, NC_000009.12:g.122319158_122319168dup, NC_000009.12:g.122319157_122319168dup, NC_000009.12:g.122319156_122319168dup, NC_000009.12:g.122319155_122319168dup, NC_000009.12:g.122319154_122319168dup, NC_000009.12:g.122319153_122319168dup, NC_000009.11:g.125081434_125081447del, NC_000009.11:g.125081435_125081447del, NC_000009.11:g.125081436_125081447del, NC_000009.11:g.125081437_125081447del, NC_000009.11:g.125081438_125081447del, NC_000009.11:g.125081439_125081447del, NC_000009.11:g.125081440_125081447del, NC_000009.11:g.125081441_125081447del, NC_000009.11:g.125081442_125081447del, NC_000009.11:g.125081443_125081447del, NC_000009.11:g.125081444_125081447del, NC_000009.11:g.125081445_125081447del, NC_000009.11:g.125081446_125081447del, NC_000009.11:g.125081447del, NC_000009.11:g.125081447dup, NC_000009.11:g.125081446_125081447dup, NC_000009.11:g.125081445_125081447dup, NC_000009.11:g.125081444_125081447dup, NC_000009.11:g.125081443_125081447dup, NC_000009.11:g.125081442_125081447dup, NC_000009.11:g.125081441_125081447dup, NC_000009.11:g.125081440_125081447dup, NC_000009.11:g.125081439_125081447dup, NC_000009.11:g.125081438_125081447dup, NC_000009.11:g.125081437_125081447dup, NC_000009.11:g.125081436_125081447dup, NC_000009.11:g.125081435_125081447dup, NC_000009.11:g.125081434_125081447dup, NC_000009.11:g.125081433_125081447dup, NC_000009.11:g.125081432_125081447dup, NG_051806.1:g.59553_59566del, NG_051806.1:g.59554_59566del, NG_051806.1:g.59555_59566del, NG_051806.1:g.59556_59566del, NG_051806.1:g.59557_59566del, NG_051806.1:g.59558_59566del, NG_051806.1:g.59559_59566del, NG_051806.1:g.59560_59566del, NG_051806.1:g.59561_59566del, NG_051806.1:g.59562_59566del, NG_051806.1:g.59563_59566del, NG_051806.1:g.59564_59566del, NG_051806.1:g.59565_59566del, NG_051806.1:g.59566del, NG_051806.1:g.59566dup, NG_051806.1:g.59565_59566dup, NG_051806.1:g.59564_59566dup, NG_051806.1:g.59563_59566dup, NG_051806.1:g.59562_59566dup, NG_051806.1:g.59561_59566dup, NG_051806.1:g.59560_59566dup, NG_051806.1:g.59559_59566dup, NG_051806.1:g.59558_59566dup, NG_051806.1:g.59557_59566dup, NG_051806.1:g.59556_59566dup, NG_051806.1:g.59555_59566dup, NG_051806.1:g.59554_59566dup, NG_051806.1:g.59553_59566dup, NG_051806.1:g.59552_59566dup, NG_051806.1:g.59551_59566dup

Select item 14913651475.

rs1491365147 has merged into rs563268615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 9:122301914 (GRCh38)
9:125064193 (GRCh37)
Canonical SPDI:: NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:122301900:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.025/1 (GENOME_DK)
HGVS:: NC_000009.12:g.122301914_122301915del, NC_000009.12:g.122301915del, NC_000009.12:g.122301915dup, NC_000009.12:g.122301914_122301915dup, NC_000009.12:g.122301913_122301915dup, NC_000009.12:g.122301912_122301915dup, NC_000009.12:g.122301910_122301915dup, NC_000009.11:g.125064193_125064194del, NC_000009.11:g.125064194del, NC_000009.11:g.125064194dup, NC_000009.11:g.125064193_125064194dup, NC_000009.11:g.125064192_125064194dup, NC_000009.11:g.125064191_125064194dup, NC_000009.11:g.125064189_125064194dup, NG_051806.1:g.42312_42313del, NG_051806.1:g.42313del, NG_051806.1:g.42313dup, NG_051806.1:g.42312_42313dup, NG_051806.1:g.42311_42313dup, NG_051806.1:g.42310_42313dup, NG_051806.1:g.42308_42313dup

Select item 14911597936.

rs1491159793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:122274534 (GRCh38)
9:125036814 (GRCh37)
Canonical SPDI:: NC_000009.12:122274534:T:TT
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00851/8 (GnomAD)
HGVS:: NC_000009.12:g.122274535dup, NC_000009.11:g.125036814dup, NG_051806.1:g.14933dup

Select item 14911401587.

rs1491140158 has merged into rs999380118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 9:122277923 (GRCh38)
9:125040202 (GRCh37)
Canonical SPDI:: NC_000009.12:122277917:TTTTTTTT:TTTTT,NC_000009.12:122277917:TTTTTTTT:TTTTTTT,NC_000009.12:122277917:TTTTTTTT:TTTTTTTTT
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000177/3 (TOMMO)
-=0.000756/200 (TOPMED)
HGVS:: NC_000009.12:g.122277923_122277925del, NC_000009.12:g.122277925del, NC_000009.12:g.122277925dup, NC_000009.11:g.125040202_125040204del, NC_000009.11:g.125040204del, NC_000009.11:g.125040204dup, NG_051806.1:g.18321_18323del, NG_051806.1:g.18323del, NG_051806.1:g.18323dup

Select item 14911396508.

rs1491139650 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:122264188 (GRCh38)
9:125026467 (GRCh37)
Canonical SPDI:: NC_000009.12:122264187:TA:
Gene:: MRRF (Varview), RBM18 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122264188_122264189del, NC_000009.11:g.125026467_125026468del, NG_051806.1:g.4586_4587del

Select item 14909268069.

rs1490926806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:122290574 (GRCh38)
9:125052853 (GRCh37)
Canonical SPDI:: NC_000009.12:122290573:A:C,NC_000009.12:122290573:A:G
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00046/8 (TOMMO)
HGVS:: NC_000009.12:g.122290574A>C, NC_000009.12:g.122290574A>G, NC_000009.11:g.125052853A>C, NC_000009.11:g.125052853A>G, NG_051806.1:g.30972A>C, NG_051806.1:g.30972A>G

Select item 149080367310.

rs1490803673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122298799 (GRCh38)
9:125061078 (GRCh37)
Canonical SPDI:: NC_000009.12:122298798:T:C
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.122298799T>C, NC_000009.11:g.125061078T>C, NG_051806.1:g.39197T>C

Select item 149077720111.

rs1490777201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:122300014 (GRCh38)
9:125062293 (GRCh37)
Canonical SPDI:: NC_000009.12:122300013:G:A
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.122300014G>A, NC_000009.11:g.125062293G>A, NG_051806.1:g.40412G>A

Select item 149075969112.

rs1490759691 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:122315139 (GRCh38)
9:125077418 (GRCh37)
Canonical SPDI:: NC_000009.12:122315137:ACA:A
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122315139_122315140del, NC_000009.11:g.125077418_125077419del, NG_051806.1:g.55537_55538del

Select item 149072628013.

rs1490726280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:122266565 (GRCh38)
9:125028844 (GRCh37)
Canonical SPDI:: NC_000009.12:122266564:A:G
Gene:: MRRF (Varview), RBM18 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122266565A>G, NC_000009.11:g.125028844A>G, NG_051806.1:g.6963A>G

Select item 149069727714.

rs1490697277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:122282965 (GRCh38)
9:125045244 (GRCh37)
Canonical SPDI:: NC_000009.12:122282964:A:G
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.122282965A>G, NC_000009.11:g.125045244A>G, NG_051806.1:g.23363A>G

Select item 149064080115.

rs1490640801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:122323028 (GRCh38)
9:125085307 (GRCh37)
Canonical SPDI:: NC_000009.12:122323027:A:G
Gene:: MRRF (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122323028A>G, NC_000009.11:g.125085307A>G, NG_051806.1:g.63426A>G, NM_138777.5:c.*411A>G, NM_138777.4:c.*411A>G, NM_138777.3:c.*411A>G, NM_199177.4:c.*434A>G, NM_199177.3:c.*434A>G, NM_199177.2:c.*434A>G, NM_001173512.3:c.*411A>G, NM_001173512.2:c.*411A>G, NM_001173512.1:c.*411A>G, NM_001346339.2:c.*411A>G, NM_001346339.1:c.*411A>G, NR_144421.2:n.1580A>G, NR_144421.1:n.1859A>G, NM_001346341.2:c.*411A>G, NM_001346341.1:c.*411A>G, NM_001346343.2:c.*411A>G, NM_001346343.1:c.*411A>G, NM_001346345.2:c.*505A>G, NM_001346345.1:c.*505A>G, NM_001346347.2:c.*411A>G, NM_001346347.1:c.*411A>G, XM_011519185.4:c.*434A>G, XM_011519185.3:c.*434A>G, XM_011519185.2:c.*434A>G, XM_011519185.1:c.*434A>G, XM_011519183.3:c.*411A>G, XM_011519183.2:c.*411A>G, XM_011519183.1:c.*411A>G, NM_199176.1:c.*988A>G

Select item 149061571016.

rs1490615710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:122324245 (GRCh38)
9:125086524 (GRCh37)
Canonical SPDI:: NC_000009.12:122324244:T:G
Gene:: MRRF (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000009.12:g.122324245T>G, NC_000009.11:g.125086524T>G, NG_051806.1:g.64643T>G, NM_138777.5:c.*1628T>G, NM_138777.4:c.*1628T>G, NM_199177.4:c.*1651T>G, NM_199177.3:c.*1651T>G, NM_001173512.3:c.*1628T>G, NM_001173512.2:c.*1628T>G, NM_001346339.2:c.*1628T>G, NM_001346339.1:c.*1628T>G, NR_144421.2:n.2797T>G, NR_144421.1:n.3076T>G, NM_001346341.2:c.*1628T>G, NM_001346341.1:c.*1628T>G, NM_001346343.2:c.*1628T>G, NM_001346343.1:c.*1628T>G, NM_001346345.2:c.*1722T>G, NM_001346345.1:c.*1722T>G, NM_001346347.2:c.*1628T>G, NM_001346347.1:c.*1628T>G, XM_011519185.4:c.*1651T>G, XM_011519185.3:c.*1651T>G, XM_011519185.1:c.*1651T>G, XM_011519183.3:c.*1628T>G, XM_011519183.1:c.*1628T>G

Select item 149060908617.

rs1490609086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:122265521 (GRCh38)
9:125027800 (GRCh37)
Canonical SPDI:: NC_000009.12:122265520:A:C,NC_000009.12:122265520:A:T
Gene:: MRRF (Varview), RBM18 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.122265521A>C, NC_000009.12:g.122265521A>T, NC_000009.11:g.125027800A>C, NC_000009.11:g.125027800A>T, NG_051806.1:g.5919A>C, NG_051806.1:g.5919A>T, NM_001346339.2:c.-225A>C, NM_001346339.2:c.-225A>T, NM_001346339.1:c.-225A>C, NM_001346339.1:c.-225A>T, NM_001346341.2:c.-53A>C, NM_001346341.2:c.-53A>T, NM_001346341.1:c.-53A>C, NM_001346341.1:c.-53A>T, XM_011519185.4:c.-225A>C, XM_011519185.4:c.-225A>T, XM_011519185.3:c.-225A>C, XM_011519185.3:c.-225A>T, XM_011519185.2:c.-225A>C, XM_011519185.2:c.-225A>T, XM_011519185.1:c.-225A>C, XM_011519185.1:c.-225A>T, XM_011519183.3:c.-225A>C, XM_011519183.3:c.-225A>T, XM_011519183.2:c.-225A>C, XM_011519183.2:c.-225A>T, XM_011519183.1:c.-225A>C, XM_011519183.1:c.-225A>T, XR_007061373.1:n.117A>C, XR_007061373.1:n.117A>T, XR_007061372.1:n.117A>C, XR_007061372.1:n.117A>T, XM_047424067.1:c.-225A>C, XM_047424067.1:c.-225A>T

Select item 149057432618.

rs1490574326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:122291180 (GRCh38)
9:125053459 (GRCh37)
Canonical SPDI:: NC_000009.12:122291179:T:A,NC_000009.12:122291179:T:C,NC_000009.12:122291179:T:G
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122291180T>A, NC_000009.12:g.122291180T>C, NC_000009.12:g.122291180T>G, NC_000009.11:g.125053459T>A, NC_000009.11:g.125053459T>C, NC_000009.11:g.125053459T>G, NG_051806.1:g.31578T>A, NG_051806.1:g.31578T>C, NG_051806.1:g.31578T>G

Select item 149057245819.

rs1490572458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:122269516 (GRCh38)
9:125031795 (GRCh37)
Canonical SPDI:: NC_000009.12:122269515:G:A
Gene:: MRRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.122269516G>A, NC_000009.11:g.125031795G>A, NG_051806.1:g.9914G>A

Select item 149056201520.

rs1490562015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122306798 (GRCh38)
9:125069077 (GRCh37)
Canonical SPDI:: NC_000009.12:122306797:T:C
Gene:: MRRF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.122306798T>C, NC_000009.11:g.125069077T>C, NG_051806.1:g.47196T>C

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