SNP Links for Gene (Select 51195) - SNP

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Select item 14914416251.

rs1491441625 has merged into rs760848897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:40183524 (GRCh38)
17:38339776 (GRCh37)
Canonical SPDI:: NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40183518:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000017.11:g.40183524_40183536del, NC_000017.11:g.40183529_40183536del, NC_000017.11:g.40183530_40183536del, NC_000017.11:g.40183531_40183536del, NC_000017.11:g.40183532_40183536del, NC_000017.11:g.40183533_40183536del, NC_000017.11:g.40183534_40183536del, NC_000017.11:g.40183535_40183536del, NC_000017.11:g.40183536del, NC_000017.11:g.40183536dup, NC_000017.11:g.40183535_40183536dup, NC_000017.11:g.40183534_40183536dup, NC_000017.11:g.40183533_40183536dup, NC_000017.11:g.40183532_40183536dup, NC_000017.11:g.40183531_40183536dup, NC_000017.11:g.40183529_40183536dup, NC_000017.11:g.40183528_40183536dup, NC_000017.11:g.40183527_40183536dup, NC_000017.11:g.40183526_40183536dup, NC_000017.11:g.40183522_40183536dup, NC_000017.11:g.40183521_40183536dup, NC_000017.10:g.38339776_38339788del, NC_000017.10:g.38339781_38339788del, NC_000017.10:g.38339782_38339788del, NC_000017.10:g.38339783_38339788del, NC_000017.10:g.38339784_38339788del, NC_000017.10:g.38339785_38339788del, NC_000017.10:g.38339786_38339788del, NC_000017.10:g.38339787_38339788del, NC_000017.10:g.38339788del, NC_000017.10:g.38339788dup, NC_000017.10:g.38339787_38339788dup, NC_000017.10:g.38339786_38339788dup, NC_000017.10:g.38339785_38339788dup, NC_000017.10:g.38339784_38339788dup, NC_000017.10:g.38339783_38339788dup, NC_000017.10:g.38339781_38339788dup, NC_000017.10:g.38339780_38339788dup, NC_000017.10:g.38339779_38339788dup, NC_000017.10:g.38339778_38339788dup, NC_000017.10:g.38339774_38339788dup, NC_000017.10:g.38339773_38339788dup, NG_054939.1:g.11515_11527del, NG_054939.1:g.11520_11527del, NG_054939.1:g.11521_11527del, NG_054939.1:g.11522_11527del, NG_054939.1:g.11523_11527del, NG_054939.1:g.11524_11527del, NG_054939.1:g.11525_11527del, NG_054939.1:g.11526_11527del, NG_054939.1:g.11527del, NG_054939.1:g.11527dup, NG_054939.1:g.11526_11527dup, NG_054939.1:g.11525_11527dup, NG_054939.1:g.11524_11527dup, NG_054939.1:g.11523_11527dup, NG_054939.1:g.11522_11527dup, NG_054939.1:g.11520_11527dup, NG_054939.1:g.11519_11527dup, NG_054939.1:g.11518_11527dup, NG_054939.1:g.11517_11527dup, NG_054939.1:g.11513_11527dup, NG_054939.1:g.11512_11527dup

Select item 14913757632.

rs1491375763 has merged into rs146110920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:40186586 (GRCh38)
17:38342838 (GRCh37)
Canonical SPDI:: NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40186574:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.40186586_40186609del, NC_000017.11:g.40186588_40186609del, NC_000017.11:g.40186589_40186609del, NC_000017.11:g.40186590_40186609del, NC_000017.11:g.40186591_40186609del, NC_000017.11:g.40186592_40186609del, NC_000017.11:g.40186593_40186609del, NC_000017.11:g.40186594_40186609del, NC_000017.11:g.40186595_40186609del, NC_000017.11:g.40186596_40186609del, NC_000017.11:g.40186597_40186609del, NC_000017.11:g.40186598_40186609del, NC_000017.11:g.40186599_40186609del, NC_000017.11:g.40186600_40186609del, NC_000017.11:g.40186601_40186609del, NC_000017.11:g.40186602_40186609del, NC_000017.11:g.40186603_40186609del, NC_000017.11:g.40186604_40186609del, NC_000017.11:g.40186605_40186609del, NC_000017.11:g.40186606_40186609del, NC_000017.11:g.40186607_40186609del, NC_000017.11:g.40186608_40186609del, NC_000017.11:g.40186609del, NC_000017.11:g.40186609dup, NC_000017.11:g.40186608_40186609dup, NC_000017.11:g.40186607_40186609dup, NC_000017.11:g.40186606_40186609dup, NC_000017.11:g.40186605_40186609dup, NC_000017.11:g.40186604_40186609dup, NC_000017.11:g.40186603_40186609dup, NC_000017.11:g.40186602_40186609dup, NC_000017.11:g.40186601_40186609dup, NC_000017.11:g.40186600_40186609dup, NC_000017.11:g.40186599_40186609dup, NC_000017.11:g.40186598_40186609dup, NC_000017.11:g.40186597_40186609dup, NC_000017.11:g.40186596_40186609dup, NC_000017.10:g.38342838_38342861del, NC_000017.10:g.38342840_38342861del, NC_000017.10:g.38342841_38342861del, NC_000017.10:g.38342842_38342861del, NC_000017.10:g.38342843_38342861del, NC_000017.10:g.38342844_38342861del, NC_000017.10:g.38342845_38342861del, NC_000017.10:g.38342846_38342861del, NC_000017.10:g.38342847_38342861del, NC_000017.10:g.38342848_38342861del, NC_000017.10:g.38342849_38342861del, NC_000017.10:g.38342850_38342861del, NC_000017.10:g.38342851_38342861del, NC_000017.10:g.38342852_38342861del, NC_000017.10:g.38342853_38342861del, NC_000017.10:g.38342854_38342861del, NC_000017.10:g.38342855_38342861del, NC_000017.10:g.38342856_38342861del, NC_000017.10:g.38342857_38342861del, NC_000017.10:g.38342858_38342861del, NC_000017.10:g.38342859_38342861del, NC_000017.10:g.38342860_38342861del, NC_000017.10:g.38342861del, NC_000017.10:g.38342861dup, NC_000017.10:g.38342860_38342861dup, NC_000017.10:g.38342859_38342861dup, NC_000017.10:g.38342858_38342861dup, NC_000017.10:g.38342857_38342861dup, NC_000017.10:g.38342856_38342861dup, NC_000017.10:g.38342855_38342861dup, NC_000017.10:g.38342854_38342861dup, NC_000017.10:g.38342853_38342861dup, NC_000017.10:g.38342852_38342861dup, NC_000017.10:g.38342851_38342861dup, NC_000017.10:g.38342850_38342861dup, NC_000017.10:g.38342849_38342861dup, NC_000017.10:g.38342848_38342861dup, NG_054939.1:g.14577_14600del, NG_054939.1:g.14579_14600del, NG_054939.1:g.14580_14600del, NG_054939.1:g.14581_14600del, NG_054939.1:g.14582_14600del, NG_054939.1:g.14583_14600del, NG_054939.1:g.14584_14600del, NG_054939.1:g.14585_14600del, NG_054939.1:g.14586_14600del, NG_054939.1:g.14587_14600del, NG_054939.1:g.14588_14600del, NG_054939.1:g.14589_14600del, NG_054939.1:g.14590_14600del, NG_054939.1:g.14591_14600del, NG_054939.1:g.14592_14600del, NG_054939.1:g.14593_14600del, NG_054939.1:g.14594_14600del, NG_054939.1:g.14595_14600del, NG_054939.1:g.14596_14600del, NG_054939.1:g.14597_14600del, NG_054939.1:g.14598_14600del, NG_054939.1:g.14599_14600del, NG_054939.1:g.14600del, NG_054939.1:g.14600dup, NG_054939.1:g.14599_14600dup, NG_054939.1:g.14598_14600dup, NG_054939.1:g.14597_14600dup, NG_054939.1:g.14596_14600dup, NG_054939.1:g.14595_14600dup, NG_054939.1:g.14594_14600dup, NG_054939.1:g.14593_14600dup, NG_054939.1:g.14592_14600dup, NG_054939.1:g.14591_14600dup, NG_054939.1:g.14590_14600dup, NG_054939.1:g.14589_14600dup, NG_054939.1:g.14588_14600dup, NG_054939.1:g.14587_14600dup

Select item 14912748203.

rs1491274820 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912701684.

rs1491270168 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:40185540 (GRCh38)
17:38341792 (GRCh37)
Canonical SPDI:: NC_000017.11:40185539:AG:
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.40185540_40185541del, NC_000017.10:g.38341792_38341793del, NG_054939.1:g.13531_13532del

Select item 14912556975.

rs1491255697 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTGTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14911922286.

rs1491192228 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:40183820 (GRCh38)
17:38340072 (GRCh37)
Canonical SPDI:: NC_000017.11:40183819:CT:
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.40183820_40183821del, NC_000017.10:g.38340072_38340073del, NG_054939.1:g.11811_11812del

Select item 14909197687.

rs1490919768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:40179141 (GRCh38)
17:38335393 (GRCh37)
Canonical SPDI:: NC_000017.11:40179140:A:T
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40179141A>T, NC_000017.10:g.38335393A>T, NG_054939.1:g.7132A>T

Select item 14908815428.

rs1490881542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40180191 (GRCh38)
17:38336443 (GRCh37)
Canonical SPDI:: NC_000017.11:40180190:G:T
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40180191G>T, NC_000017.10:g.38336443G>T, NG_054939.1:g.8182G>T

Select item 14906626229.

rs1490662622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40180997 (GRCh38)
17:38337249 (GRCh37)
Canonical SPDI:: NC_000017.11:40180996:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40180997G>A, NC_000017.10:g.38337249G>A, NG_054939.1:g.8988G>A

Select item 149044225110.

rs1490442251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40179192 (GRCh38)
17:38335444 (GRCh37)
Canonical SPDI:: NC_000017.11:40179191:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40179192G>A, NC_000017.10:g.38335444G>A, NG_054939.1:g.7183G>A

Select item 149028613211.

rs1490286132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40187905 (GRCh38)
17:38344157 (GRCh37)
Canonical SPDI:: NC_000017.11:40187904:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.40187905G>A, NC_000017.10:g.38344157G>A, NG_054939.1:g.15896G>A

Select item 149027478212.

rs1490274782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40177285 (GRCh38)
17:38333538 (GRCh37)
Canonical SPDI:: NC_000017.11:40177284:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,splice_donor_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40177285G>A, NC_000017.10:g.38333538G>A, NG_054939.1:g.5276G>A

Select item 149012750013.

rs1490127500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40191716 (GRCh38)
17:38347968 (GRCh37)
Canonical SPDI:: NC_000017.11:40191715:C:T
Gene:: RAPGEFL1 (Varview), MIR6867 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40191716C>T, NC_000017.10:g.38347968C>T, NG_054939.1:g.19707C>T

Select item 149008814414.

rs1490088144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40188987 (GRCh38)
17:38345239 (GRCh37)
Canonical SPDI:: NC_000017.11:40188986:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40188987G>A, NC_000017.10:g.38345239G>A, NG_054939.1:g.16978G>A

Select item 149007936315.

rs1490079363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40183892 (GRCh38)
17:38340144 (GRCh37)
Canonical SPDI:: NC_000017.11:40183891:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.40183892G>A, NC_000017.10:g.38340144G>A, NG_054939.1:g.11883G>A

Select item 148974590616.

rs1489745906 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:40182286 (GRCh38)
17:38338538 (GRCh37)
Canonical SPDI:: NC_000017.11:40182285:C:
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40182286del, NC_000017.10:g.38338538del, NG_054939.1:g.10277del

Select item 148972470117.

rs1489724701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40195702 (GRCh38)
17:38351954 (GRCh37)
Canonical SPDI:: NC_000017.11:40195701:G:A
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40195702G>A, NC_000017.10:g.38351954G>A, NG_054939.1:g.23693G>A

Select item 148968403618.

rs1489684036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40180558 (GRCh38)
17:38336810 (GRCh37)
Canonical SPDI:: NC_000017.11:40180557:C:G
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.40180558C>G, NC_000017.10:g.38336810C>G, NG_054939.1:g.8549C>G

Select item 148965138419.

rs1489651384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:40181792 (GRCh38)
17:38338044 (GRCh37)
Canonical SPDI:: NC_000017.11:40181791:A:T
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40181792A>T, NC_000017.10:g.38338044A>T, NG_054939.1:g.9783A>T

Select item 148964931720.

rs1489649317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTC [Show Flanks]
Chromosome:: 17:40186456 (GRCh38)
17:38342709 (GRCh37)
Canonical SPDI:: NC_000017.11:40186456:ACTC:ACTCACTC
Gene:: RAPGEFL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACTCACTC=0./0 (ALFA)
ACTC=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40186457_40186460dup, NC_000017.10:g.38342709_38342712dup, NG_054939.1:g.14448_14451dup

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