SNP Links for Gene (Select 401409) - SNP

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Select item 14915088171.

rs1491508817 has merged into rs11422658 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:140417084 (GRCh38)
7:140116884 (GRCh37)
Canonical SPDI:: NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:140417071:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.140417084_140417086del, NC_000007.14:g.140417085_140417086del, NC_000007.14:g.140417086del, NC_000007.14:g.140417086dup, NC_000007.14:g.140417085_140417086dup, NC_000007.14:g.140417084_140417086dup, NC_000007.14:g.140417082_140417086dup, NC_000007.13:g.140116884_140116886del, NC_000007.13:g.140116885_140116886del, NC_000007.13:g.140116886del, NC_000007.13:g.140116886dup, NC_000007.13:g.140116885_140116886dup, NC_000007.13:g.140116884_140116886dup, NC_000007.13:g.140116882_140116886dup

Select item 14914035952.

rs1491403595 has merged into rs35424074 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:140405798 (GRCh38)
7:140105598 (GRCh37)
Canonical SPDI:: NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.3285/1645 (1000Genomes)
HGVS:: NC_000007.14:g.140405798_140405807del, NC_000007.14:g.140405799_140405807del, NC_000007.14:g.140405801_140405807del, NC_000007.14:g.140405802_140405807del, NC_000007.14:g.140405803_140405807del, NC_000007.14:g.140405804_140405807del, NC_000007.14:g.140405805_140405807del, NC_000007.14:g.140405806_140405807del, NC_000007.14:g.140405807del, NC_000007.14:g.140405807dup, NC_000007.14:g.140405806_140405807dup, NC_000007.14:g.140405805_140405807dup, NC_000007.14:g.140405803_140405807dup, NC_000007.14:g.140405801_140405807dup, NC_000007.13:g.140105598_140105607del, NC_000007.13:g.140105599_140105607del, NC_000007.13:g.140105601_140105607del, NC_000007.13:g.140105602_140105607del, NC_000007.13:g.140105603_140105607del, NC_000007.13:g.140105604_140105607del, NC_000007.13:g.140105605_140105607del, NC_000007.13:g.140105606_140105607del, NC_000007.13:g.140105607del, NC_000007.13:g.140105607dup, NC_000007.13:g.140105606_140105607dup, NC_000007.13:g.140105605_140105607dup, NC_000007.13:g.140105603_140105607dup, NC_000007.13:g.140105601_140105607dup

Select item 14913531193.

rs1491353119 has merged into rs57106350 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:140403677 (GRCh38)
7:140103477 (GRCh37)
Canonical SPDI:: NC_000007.14:140403676:AT:
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.001398/7 (1000Genomes)
HGVS:: NC_000007.14:g.140403677_140403678del, NC_000007.13:g.140103477_140103478del

Select item 14912708484.

rs1491270848 has merged into rs760964553 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:140410008 (GRCh38)
7:140109808 (GRCh37)
Canonical SPDI:: NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140409992:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000007.14:g.140410008_140410012del, NC_000007.14:g.140410009_140410012del, NC_000007.14:g.140410010_140410012del, NC_000007.14:g.140410011_140410012del, NC_000007.14:g.140410012del, NC_000007.14:g.140410012dup, NC_000007.14:g.140410011_140410012dup, NC_000007.14:g.140410010_140410012dup, NC_000007.14:g.140410009_140410012dup, NC_000007.14:g.140410008_140410012dup, NC_000007.14:g.140409993_140410012A[21]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.140109808_140109812del, NC_000007.13:g.140109809_140109812del, NC_000007.13:g.140109810_140109812del, NC_000007.13:g.140109811_140109812del, NC_000007.13:g.140109812del, NC_000007.13:g.140109812dup, NC_000007.13:g.140109811_140109812dup, NC_000007.13:g.140109810_140109812dup, NC_000007.13:g.140109809_140109812dup, NC_000007.13:g.140109808_140109812dup, NC_000007.13:g.140109793_140109812A[21]TAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912581465.

rs1491258146 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:140407880 (GRCh38)
7:140107680 (GRCh37)
Canonical SPDI:: NC_000007.14:140407879:CT:
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000247/4 (ALFA)
-=0.000404/49 (GnomAD)
HGVS:: NC_000007.14:g.140407880_140407881del, NC_000007.13:g.140107680_140107681del

Select item 14912552476.

rs1491255247 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:140409992 (GRCh38)
7:140109792 (GRCh37)
Canonical SPDI:: NC_000007.14:140409991:CA:
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.140409992_140409993del, NC_000007.13:g.140109792_140109793del

Select item 14912400207.

rs1491240020 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:140406248 (GRCh38)
7:140106048 (GRCh37)
Canonical SPDI:: NC_000007.14:140406247:CA:
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.140406248_140406249del, NC_000007.13:g.140106048_140106049del

Select item 14911929498.

rs1491192949 has merged into rs71170993 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:140407891 (GRCh38)
7:140107691 (GRCh37)
Canonical SPDI:: NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140407880:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.140407891_140407906del, NC_000007.14:g.140407893_140407906del, NC_000007.14:g.140407894_140407906del, NC_000007.14:g.140407895_140407906del, NC_000007.14:g.140407896_140407906del, NC_000007.14:g.140407897_140407906del, NC_000007.14:g.140407898_140407906del, NC_000007.14:g.140407899_140407906del, NC_000007.14:g.140407900_140407906del, NC_000007.14:g.140407901_140407906del, NC_000007.14:g.140407902_140407906del, NC_000007.14:g.140407903_140407906del, NC_000007.14:g.140407904_140407906del, NC_000007.14:g.140407905_140407906del, NC_000007.14:g.140407906del, NC_000007.14:g.140407906dup, NC_000007.14:g.140407905_140407906dup, NC_000007.14:g.140407904_140407906dup, NC_000007.14:g.140407902_140407906dup, NC_000007.14:g.140407901_140407906dup, NC_000007.14:g.140407900_140407906dup, NC_000007.14:g.140407899_140407906dup, NC_000007.14:g.140407897_140407906dup, NC_000007.14:g.140407894_140407906dup, NC_000007.14:g.140407892_140407906dup, NC_000007.14:g.140407889_140407906dup, NC_000007.14:g.140407887_140407906dup, NC_000007.13:g.140107691_140107706del, NC_000007.13:g.140107693_140107706del, NC_000007.13:g.140107694_140107706del, NC_000007.13:g.140107695_140107706del, NC_000007.13:g.140107696_140107706del, NC_000007.13:g.140107697_140107706del, NC_000007.13:g.140107698_140107706del, NC_000007.13:g.140107699_140107706del, NC_000007.13:g.140107700_140107706del, NC_000007.13:g.140107701_140107706del, NC_000007.13:g.140107702_140107706del, NC_000007.13:g.140107703_140107706del, NC_000007.13:g.140107704_140107706del, NC_000007.13:g.140107705_140107706del, NC_000007.13:g.140107706del, NC_000007.13:g.140107706dup, NC_000007.13:g.140107705_140107706dup, NC_000007.13:g.140107704_140107706dup, NC_000007.13:g.140107702_140107706dup, NC_000007.13:g.140107701_140107706dup, NC_000007.13:g.140107700_140107706dup, NC_000007.13:g.140107699_140107706dup, NC_000007.13:g.140107697_140107706dup, NC_000007.13:g.140107694_140107706dup, NC_000007.13:g.140107692_140107706dup, NC_000007.13:g.140107689_140107706dup, NC_000007.13:g.140107687_140107706dup

Select item 14911736159.

rs1491173615 has merged into rs1554440193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 7:140403685 (GRCh38)
7:140103485 (GRCh37)
Canonical SPDI:: NC_000007.14:140403677:TTTTTTTTTT:TTTTTTT,NC_000007.14:140403677:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:140403677:TTTTTTTTTT:TTTTTTTTTTT
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.00007/1 (TOMMO)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000007.14:g.140403685_140403687del, NC_000007.14:g.140403687del, NC_000007.14:g.140403687dup, NC_000007.13:g.140103485_140103487del, NC_000007.13:g.140103487del, NC_000007.13:g.140103487dup

Select item 149114363110.

rs1491143631 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:140405788 (GRCh38)
7:140105588 (GRCh37)
Canonical SPDI:: NC_000007.14:140405787:CA:
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.06635/787 (ALFA)
-=0.00407/115 (TOMMO)
-=0.0058/350 (GnomAD)
-=0.00889/16 (Korea1K)
HGVS:: NC_000007.14:g.140405788_140405789del, NC_000007.13:g.140105588_140105589del

Select item 149095366811.

rs1490953668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:140424982 (GRCh38)
7:140124782 (GRCh37)
Canonical SPDI:: NC_000007.14:140424981:A:C
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.140424982A>C, NC_000007.13:g.140124782A>C

Select item 149084598112.

rs1490845981 has merged into rs140238398 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:140418407 (GRCh38)
7:140118207 (GRCh37)
Canonical SPDI:: NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140418396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
AAAA=0.3405/1705 (1000Genomes)
HGVS:: NC_000007.14:g.140418407_140418422del, NC_000007.14:g.140418408_140418422del, NC_000007.14:g.140418409_140418422del, NC_000007.14:g.140418410_140418422del, NC_000007.14:g.140418411_140418422del, NC_000007.14:g.140418412_140418422del, NC_000007.14:g.140418413_140418422del, NC_000007.14:g.140418414_140418422del, NC_000007.14:g.140418415_140418422del, NC_000007.14:g.140418416_140418422del, NC_000007.14:g.140418417_140418422del, NC_000007.14:g.140418418_140418422del, NC_000007.14:g.140418419_140418422del, NC_000007.14:g.140418420_140418422del, NC_000007.14:g.140418421_140418422del, NC_000007.14:g.140418422del, NC_000007.14:g.140418422dup, NC_000007.14:g.140418421_140418422dup, NC_000007.14:g.140418420_140418422dup, NC_000007.14:g.140418419_140418422dup, NC_000007.14:g.140418417_140418422dup, NC_000007.14:g.140418416_140418422dup, NC_000007.14:g.140418414_140418422dup, NC_000007.13:g.140118207_140118222del, NC_000007.13:g.140118208_140118222del, NC_000007.13:g.140118209_140118222del, NC_000007.13:g.140118210_140118222del, NC_000007.13:g.140118211_140118222del, NC_000007.13:g.140118212_140118222del, NC_000007.13:g.140118213_140118222del, NC_000007.13:g.140118214_140118222del, NC_000007.13:g.140118215_140118222del, NC_000007.13:g.140118216_140118222del, NC_000007.13:g.140118217_140118222del, NC_000007.13:g.140118218_140118222del, NC_000007.13:g.140118219_140118222del, NC_000007.13:g.140118220_140118222del, NC_000007.13:g.140118221_140118222del, NC_000007.13:g.140118222del, NC_000007.13:g.140118222dup, NC_000007.13:g.140118221_140118222dup, NC_000007.13:g.140118220_140118222dup, NC_000007.13:g.140118219_140118222dup, NC_000007.13:g.140118217_140118222dup, NC_000007.13:g.140118216_140118222dup, NC_000007.13:g.140118214_140118222dup

Select item 149079758013.

rs1490797580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:140413688 (GRCh38)
7:140113489 (GRCh37)
Canonical SPDI:: NC_000007.14:140413688:AAAA:AAAAA
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.140413692dup, NC_000007.13:g.140113492dup

Select item 149065868714.

rs1490658687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140418803 (GRCh38)
7:140118603 (GRCh37)
Canonical SPDI:: NC_000007.14:140418802:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.140418803G>A, NC_000007.13:g.140118603G>A

Select item 149058241815.

rs1490582418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140415811 (GRCh38)
7:140115611 (GRCh37)
Canonical SPDI:: NC_000007.14:140415810:A:G
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.140415811A>G, NC_000007.13:g.140115611A>G

Select item 149047450216.

rs1490474502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140411163 (GRCh38)
7:140110963 (GRCh37)
Canonical SPDI:: NC_000007.14:140411162:G:A
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.140411163G>A, NC_000007.13:g.140110963G>A

Select item 149028625117.

rs1490286251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:140411634 (GRCh38)
7:140111434 (GRCh37)
Canonical SPDI:: NC_000007.14:140411633:C:G,NC_000007.14:140411633:C:T
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140411634C>G, NC_000007.14:g.140411634C>T, NC_000007.13:g.140111434C>G, NC_000007.13:g.140111434C>T

Select item 148997894418.

rs1489978944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:140412549 (GRCh38)
7:140112349 (GRCh37)
Canonical SPDI:: NC_000007.14:140412548:G:T
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0036/16 (ALFA)
HGVS:: NC_000007.14:g.140412549G>T, NC_000007.13:g.140112349G>T

Select item 148993581019.

rs1489935810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:140404273 (GRCh38)
7:140104073 (GRCh37)
Canonical SPDI:: NC_000007.14:140404272:T:A
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.140404273T>A, NC_000007.13:g.140104073T>A, XR_007060561.1:n.196A>T

Select item 148986268420.

rs1489862684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:140417414 (GRCh38)
7:140117214 (GRCh37)
Canonical SPDI:: NC_000007.14:140417413:A:T
Gene:: RAB19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.140417414A>T, NC_000007.13:g.140117214A>T

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