SNP Links for Gene (Select 201163) - SNP

Links from Gene

Items: 1 to 20 of 8625

<< First< Prev

Page of 432

Next >Last >>

Select item 14914383711.

rs1491438371 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 17:17234213 (GRCh38)
17:17137528 (GRCh37)
Canonical SPDI:: NC_000017.11:17234213::T,NC_000017.11:17234213::TT
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000018/2 (GnomAD)
HGVS:: NC_000017.11:g.17234213_17234214insT, NC_000017.11:g.17234213_17234214insTT, NC_000017.10:g.17137527_17137528insT, NC_000017.10:g.17137527_17137528insTT, NG_008001.2:g.7975_7976insA, NG_008001.2:g.7975_7976insAA

Select item 14913951402.

rs1491395140 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:17207998 (GRCh38)
17:17111312 (GRCh37)
Canonical SPDI:: NC_000017.11:17207997:TC:
Gene:: PLD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.17207998_17207999del, NC_000017.10:g.17111312_17111313del, NG_008001.2:g.34190_34191del

Select item 14913813073.

rs1491381307 has merged into rs34695824 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:17235120 (GRCh38)
17:17138434 (GRCh37)
Canonical SPDI:: NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17235109:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.17235120_17235130del, NC_000017.11:g.17235121_17235130del, NC_000017.11:g.17235122_17235130del, NC_000017.11:g.17235123_17235130del, NC_000017.11:g.17235124_17235130del, NC_000017.11:g.17235125_17235130del, NC_000017.11:g.17235126_17235130del, NC_000017.11:g.17235128_17235130del, NC_000017.11:g.17235129_17235130del, NC_000017.11:g.17235130del, NC_000017.11:g.17235130dup, NC_000017.11:g.17235129_17235130dup, NC_000017.11:g.17235128_17235130dup, NC_000017.11:g.17235126_17235130dup, NC_000017.10:g.17138434_17138444del, NC_000017.10:g.17138435_17138444del, NC_000017.10:g.17138436_17138444del, NC_000017.10:g.17138437_17138444del, NC_000017.10:g.17138438_17138444del, NC_000017.10:g.17138439_17138444del, NC_000017.10:g.17138440_17138444del, NC_000017.10:g.17138442_17138444del, NC_000017.10:g.17138443_17138444del, NC_000017.10:g.17138444del, NC_000017.10:g.17138444dup, NC_000017.10:g.17138443_17138444dup, NC_000017.10:g.17138442_17138444dup, NC_000017.10:g.17138440_17138444dup, NG_008001.2:g.7069_7079del, NG_008001.2:g.7070_7079del, NG_008001.2:g.7071_7079del, NG_008001.2:g.7072_7079del, NG_008001.2:g.7073_7079del, NG_008001.2:g.7074_7079del, NG_008001.2:g.7075_7079del, NG_008001.2:g.7077_7079del, NG_008001.2:g.7078_7079del, NG_008001.2:g.7079del, NG_008001.2:g.7079dup, NG_008001.2:g.7078_7079dup, NG_008001.2:g.7077_7079dup, NG_008001.2:g.7075_7079dup

Select item 14913645544.

rs1491364554 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:17233598 (GRCh38)
17:17136912 (GRCh37)
Canonical SPDI:: NC_000017.11:17233597:CA:
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00236/28 (ALFA)
-=0.00093/26 (TOMMO)
HGVS:: NC_000017.11:g.17233598_17233599del, NC_000017.10:g.17136912_17136913del, NG_008001.2:g.8590_8591del

Select item 14912826575.

rs1491282657 [Homo sapiens]

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

Select item 14912775956.

rs1491277595 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:17208010 (GRCh38)
17:17111324 (GRCh37)
Canonical SPDI:: NC_000017.11:17208009:CA:
Gene:: PLD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.17208010_17208011del, NC_000017.10:g.17111324_17111325del, NG_008001.2:g.34178_34179del

Select item 14912601767.

rs1491260176 has merged into rs1170605959 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>G,T [Show Flanks]
Chromosome:: 17:17234213 (GRCh38)
17:17137527 (GRCh37)
Canonical SPDI:: NC_000017.11:17234212:GG:G,NC_000017.11:17234212:GG:T
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00056/9 (TOMMO)
-=0.00262/227 (GnomAD)
HGVS:: NC_000017.11:g.17234214del, NC_000017.11:g.17234213_17234214delinsT, NC_000017.10:g.17137528del, NC_000017.10:g.17137527_17137528delinsT, NG_008001.2:g.7976del, NG_008001.2:g.7975_7976delinsA

Select item 14911726508.

rs1491172650 has merged into rs35534690 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 17:17208006 (GRCh38)
17:17111320 (GRCh37)
Canonical SPDI:: NC_000017.11:17207998:CCCCCCCCC:CCCCCCC,NC_000017.11:17207998:CCCCCCCCC:CCCCCCCC,NC_000017.11:17207998:CCCCCCCCC:CCCCCCCCCC,NC_000017.11:17207998:CCCCCCCCC:CCCCCCCCCCC
Gene:: PLD6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0.28173/515 (Korea1K)
C=0.30292/5071 (TOMMO)
C=0.31771/183 (NorthernSweden)
C=0.32252/1243 (ALSPAC)
C=0.32708/1638 (1000Genomes)
C=0.32929/1221 (TWINSUK)
C=0.45/18 (GENOME_DK)
HGVS:: NC_000017.11:g.17208006_17208007del, NC_000017.11:g.17208007del, NC_000017.11:g.17208007dup, NC_000017.11:g.17208006_17208007dup, NC_000017.10:g.17111320_17111321del, NC_000017.10:g.17111321del, NC_000017.10:g.17111321dup, NC_000017.10:g.17111320_17111321dup, NG_008001.2:g.34189_34190del, NG_008001.2:g.34190del, NG_008001.2:g.34190dup, NG_008001.2:g.34189_34190dup

Select item 14911594409.

rs1491159440 has merged into rs71152852 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:17233609 (GRCh38)
17:17136923 (GRCh37)
Canonical SPDI:: NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:17233598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.17233609_17233621del, NC_000017.11:g.17233610_17233621del, NC_000017.11:g.17233611_17233621del, NC_000017.11:g.17233612_17233621del, NC_000017.11:g.17233614_17233621del, NC_000017.11:g.17233615_17233621del, NC_000017.11:g.17233616_17233621del, NC_000017.11:g.17233617_17233621del, NC_000017.11:g.17233618_17233621del, NC_000017.11:g.17233619_17233621del, NC_000017.11:g.17233620_17233621del, NC_000017.11:g.17233621del, NC_000017.11:g.17233621dup, NC_000017.11:g.17233620_17233621dup, NC_000017.11:g.17233619_17233621dup, NC_000017.11:g.17233618_17233621dup, NC_000017.11:g.17233617_17233621dup, NC_000017.11:g.17233616_17233621dup, NC_000017.11:g.17233614_17233621dup, NC_000017.10:g.17136923_17136935del, NC_000017.10:g.17136924_17136935del, NC_000017.10:g.17136925_17136935del, NC_000017.10:g.17136926_17136935del, NC_000017.10:g.17136928_17136935del, NC_000017.10:g.17136929_17136935del, NC_000017.10:g.17136930_17136935del, NC_000017.10:g.17136931_17136935del, NC_000017.10:g.17136932_17136935del, NC_000017.10:g.17136933_17136935del, NC_000017.10:g.17136934_17136935del, NC_000017.10:g.17136935del, NC_000017.10:g.17136935dup, NC_000017.10:g.17136934_17136935dup, NC_000017.10:g.17136933_17136935dup, NC_000017.10:g.17136932_17136935dup, NC_000017.10:g.17136931_17136935dup, NC_000017.10:g.17136930_17136935dup, NC_000017.10:g.17136928_17136935dup, NG_008001.2:g.8578_8590del, NG_008001.2:g.8579_8590del, NG_008001.2:g.8580_8590del, NG_008001.2:g.8581_8590del, NG_008001.2:g.8583_8590del, NG_008001.2:g.8584_8590del, NG_008001.2:g.8585_8590del, NG_008001.2:g.8586_8590del, NG_008001.2:g.8587_8590del, NG_008001.2:g.8588_8590del, NG_008001.2:g.8589_8590del, NG_008001.2:g.8590del, NG_008001.2:g.8590dup, NG_008001.2:g.8589_8590dup, NG_008001.2:g.8588_8590dup, NG_008001.2:g.8587_8590dup, NG_008001.2:g.8586_8590dup, NG_008001.2:g.8585_8590dup, NG_008001.2:g.8583_8590dup

Select item 149113453510.

rs1491134535 has merged into rs34208211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:17233725 (GRCh38)
17:17137039 (GRCh37)
Canonical SPDI:: NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17233716:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FLCN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.17233725_17233740del, NC_000017.11:g.17233726_17233740del, NC_000017.11:g.17233727_17233740del, NC_000017.11:g.17233728_17233740del, NC_000017.11:g.17233729_17233740del, NC_000017.11:g.17233730_17233740del, NC_000017.11:g.17233731_17233740del, NC_000017.11:g.17233732_17233740del, NC_000017.11:g.17233733_17233740del, NC_000017.11:g.17233734_17233740del, NC_000017.11:g.17233735_17233740del, NC_000017.11:g.17233736_17233740del, NC_000017.11:g.17233737_17233740del, NC_000017.11:g.17233738_17233740del, NC_000017.11:g.17233739_17233740del, NC_000017.11:g.17233740del, NC_000017.11:g.17233740dup, NC_000017.11:g.17233739_17233740dup, NC_000017.11:g.17233738_17233740dup, NC_000017.11:g.17233737_17233740dup, NC_000017.11:g.17233736_17233740dup, NC_000017.11:g.17233735_17233740dup, NC_000017.11:g.17233734_17233740dup, NC_000017.11:g.17233733_17233740dup, NC_000017.11:g.17233732_17233740dup, NC_000017.11:g.17233731_17233740dup, NC_000017.11:g.17233740_17233741insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.17233740_17233741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.17137039_17137054del, NC_000017.10:g.17137040_17137054del, NC_000017.10:g.17137041_17137054del, NC_000017.10:g.17137042_17137054del, NC_000017.10:g.17137043_17137054del, NC_000017.10:g.17137044_17137054del, NC_000017.10:g.17137045_17137054del, NC_000017.10:g.17137046_17137054del, NC_000017.10:g.17137047_17137054del, NC_000017.10:g.17137048_17137054del, NC_000017.10:g.17137049_17137054del, NC_000017.10:g.17137050_17137054del, NC_000017.10:g.17137051_17137054del, NC_000017.10:g.17137052_17137054del, NC_000017.10:g.17137053_17137054del, NC_000017.10:g.17137054del, NC_000017.10:g.17137054dup, NC_000017.10:g.17137053_17137054dup, NC_000017.10:g.17137052_17137054dup, NC_000017.10:g.17137051_17137054dup, NC_000017.10:g.17137050_17137054dup, NC_000017.10:g.17137049_17137054dup, NC_000017.10:g.17137048_17137054dup, NC_000017.10:g.17137047_17137054dup, NC_000017.10:g.17137046_17137054dup, NC_000017.10:g.17137045_17137054dup, NC_000017.10:g.17137054_17137055insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.17137054_17137055insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008001.2:g.8457_8472del, NG_008001.2:g.8458_8472del, NG_008001.2:g.8459_8472del, NG_008001.2:g.8460_8472del, NG_008001.2:g.8461_8472del, NG_008001.2:g.8462_8472del, NG_008001.2:g.8463_8472del, NG_008001.2:g.8464_8472del, NG_008001.2:g.8465_8472del, NG_008001.2:g.8466_8472del, NG_008001.2:g.8467_8472del, NG_008001.2:g.8468_8472del, NG_008001.2:g.8469_8472del, NG_008001.2:g.8470_8472del, NG_008001.2:g.8471_8472del, NG_008001.2:g.8472del, NG_008001.2:g.8472dup, NG_008001.2:g.8471_8472dup, NG_008001.2:g.8470_8472dup, NG_008001.2:g.8469_8472dup, NG_008001.2:g.8468_8472dup, NG_008001.2:g.8467_8472dup, NG_008001.2:g.8466_8472dup, NG_008001.2:g.8465_8472dup, NG_008001.2:g.8464_8472dup, NG_008001.2:g.8463_8472dup, NG_008001.2:g.8472_8473insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008001.2:g.8472_8473insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149105300611.

rs1491053006 has merged into rs11464784 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:17218398 (GRCh38)
17:17121712 (GRCh37)
Canonical SPDI:: NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:17218386:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FLCN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4425/2216 (1000Genomes)
HGVS:: NC_000017.11:g.17218398_17218403del, NC_000017.11:g.17218399_17218403del, NC_000017.11:g.17218400_17218403del, NC_000017.11:g.17218401_17218403del, NC_000017.11:g.17218402_17218403del, NC_000017.11:g.17218403del, NC_000017.11:g.17218403dup, NC_000017.11:g.17218402_17218403dup, NC_000017.11:g.17218401_17218403dup, NC_000017.11:g.17218400_17218403dup, NC_000017.11:g.17218399_17218403dup, NC_000017.11:g.17218398_17218403dup, NC_000017.11:g.17218397_17218403dup, NC_000017.11:g.17218394_17218403dup, NC_000017.11:g.17218403_17218404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.17121712_17121717del, NC_000017.10:g.17121713_17121717del, NC_000017.10:g.17121714_17121717del, NC_000017.10:g.17121715_17121717del, NC_000017.10:g.17121716_17121717del, NC_000017.10:g.17121717del, NC_000017.10:g.17121717dup, NC_000017.10:g.17121716_17121717dup, NC_000017.10:g.17121715_17121717dup, NC_000017.10:g.17121714_17121717dup, NC_000017.10:g.17121713_17121717dup, NC_000017.10:g.17121712_17121717dup, NC_000017.10:g.17121711_17121717dup, NC_000017.10:g.17121708_17121717dup, NC_000017.10:g.17121717_17121718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008001.2:g.23797_23802del, NG_008001.2:g.23798_23802del, NG_008001.2:g.23799_23802del, NG_008001.2:g.23800_23802del, NG_008001.2:g.23801_23802del, NG_008001.2:g.23802del, NG_008001.2:g.23802dup, NG_008001.2:g.23801_23802dup, NG_008001.2:g.23800_23802dup, NG_008001.2:g.23799_23802dup, NG_008001.2:g.23798_23802dup, NG_008001.2:g.23797_23802dup, NG_008001.2:g.23796_23802dup, NG_008001.2:g.23793_23802dup, NG_008001.2:g.23802_23803insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149093058012.

rs1490930580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17214463 (GRCh38)
17:17117777 (GRCh37)
Canonical SPDI:: NC_000017.11:17214462:G:A
Gene:: FLCN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.17214463G>A, NC_000017.10:g.17117777G>A, NG_008001.2:g.27726C>T

Select item 149085009113.

rs1490850091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17225798 (GRCh38)
17:17129112 (GRCh37)
Canonical SPDI:: NC_000017.11:17225797:T:C
Gene:: FLCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17225798T>C, NC_000017.10:g.17129112T>C, NG_008001.2:g.16391A>G

Select item 149060554814.

rs1490605548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:17232810 (GRCh38)
17:17136124 (GRCh37)
Canonical SPDI:: NC_000017.11:17232809:T:G
Gene:: FLCN (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_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_000017.11:g.17232810T>G, NC_000017.10:g.17136124T>G, NG_008001.2:g.9379A>C, NM_144997.7:c.-136A>C, NM_144997.6:c.-136A>C, NM_144997.5:c.-136A>C, NM_144606.7:c.-136A>C, NM_144606.6:c.-136A>C, NM_144606.5:c.-136A>C, NM_001353230.2:c.-419A>C, NM_001353230.1:c.-419A>C, NM_001353229.2:c.-136A>C, NM_001353229.1:c.-136A>C, NM_001353231.2:c.-335A>C, NM_001353231.1:c.-335A>C, XM_011523714.4:c.-136A>C, XM_011523714.3:c.-136A>C, XM_011523714.2:c.-136A>C, XM_011523714.1:c.-136A>C, XM_011523718.4:c.-47A>C, XM_011523718.3:c.-47A>C, XM_011523718.2:c.-47A>C, XM_011523718.1:c.-47A>C, XM_011523721.4:c.-47A>C, XM_011523721.3:c.-47A>C, XM_011523721.2:c.-47A>C, XM_011523721.1:c.-47A>C, XM_017024305.3:c.-335A>C, XM_017024305.2:c.-335A>C, XM_017024305.1:c.-335A>C, XM_017024309.3:c.-136A>C, XM_017024309.2:c.-136A>C, XM_017024309.1:c.-136A>C, XM_017024308.2:c.-335A>C, XM_017024308.1:c.-335A>C, XM_047435532.1:c.-1805A>C, XM_047435537.1:c.-1805A>C, XM_047435533.1:c.-796A>C, XM_047435534.1:c.-880A>C, XM_047435535.1:c.-136A>C, XM_047435540.1:c.-136A>C, XM_047435531.1:c.-136A>C, XM_047435542.1:c.-1805A>C, XM_047435536.1:c.-136A>C, XM_047435538.1:c.-47A>C, XM_047435541.1:c.-47A>C

Select item 149056572515.

rs1490565725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17206598 (GRCh38)
17:17109912 (GRCh37)
Canonical SPDI:: NC_000017.11:17206597:C:T
Gene:: PLD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17206598C>T, NC_000017.10:g.17109912C>T, NG_008001.2:g.35591G>A

Select item 149056322916.

rs1490563229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17218460 (GRCh38)
17:17121774 (GRCh37)
Canonical SPDI:: NC_000017.11:17218459:C:T
Gene:: FLCN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.17218460C>T, NC_000017.10:g.17121774C>T, NG_008001.2:g.23729G>A

Select item 149042614817.

rs1490426148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17226482 (GRCh38)
17:17129796 (GRCh37)
Canonical SPDI:: NC_000017.11:17226481:A:G
Gene:: FLCN (Varview)
Functional Consequence:: intron_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_000017.11:g.17226482A>G, NC_000017.10:g.17129796A>G, NG_008001.2:g.15707T>C

Select item 149042462318.

rs1490424623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:17219194 (GRCh38)
17:17122508 (GRCh37)
Canonical SPDI:: NC_000017.11:17219193:G:C
Gene:: FLCN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,downstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17219194G>C, NC_000017.10:g.17122508G>C, NG_008001.2:g.22995C>G, NM_144997.7:c.887C>G, NM_144997.6:c.887C>G, NM_144997.5:c.887C>G, NM_001353230.2:c.887C>G, NM_001353230.1:c.887C>G, NM_001353229.2:c.941C>G, NM_001353229.1:c.941C>G, NM_001353231.2:c.887C>G, NM_001353231.1:c.887C>G, XM_011523714.4:c.941C>G, XM_011523714.3:c.941C>G, XM_011523714.2:c.941C>G, XM_011523714.1:c.941C>G, XM_011523718.4:c.941C>G, XM_011523718.3:c.941C>G, XM_011523718.2:c.941C>G, XM_011523718.1:c.941C>G, XM_011523721.4:c.941C>G, XM_011523721.3:c.941C>G, XM_011523721.2:c.941C>G, XM_011523721.1:c.941C>G, XM_017024305.3:c.941C>G, XM_017024305.2:c.941C>G, XM_017024305.1:c.941C>G, XM_017024309.3:c.665C>G, XM_017024309.2:c.665C>G, XM_017024309.1:c.665C>G, XM_017024308.2:c.887C>G, XM_017024308.1:c.887C>G, XM_047435532.1:c.941C>G, XM_047435537.1:c.887C>G, XM_047435533.1:c.941C>G, XM_047435534.1:c.941C>G, XM_047435535.1:c.887C>G, XM_047435540.1:c.665C>G, XM_047435531.1:c.941C>G, XM_047435542.1:c.941C>G, XM_047435536.1:c.887C>G, XM_047435539.1:c.941C>G, XM_047435538.1:c.887C>G, XM_047435541.1:c.665C>G, NP_659434.2:p.Ser296Ter, NP_001340159.1:p.Ser296Ter, NP_001340158.1:p.Ser314Ter, NP_001340160.1:p.Ser296Ter, XP_011522016.1:p.Ser314Ter, XP_011522020.1:p.Ser314Ter, XP_011522023.1:p.Ser314Ter, XP_016879794.1:p.Ser314Ter, XP_016879798.1:p.Ser222Ter, XP_016879797.1:p.Ser296Ter, XP_047291488.1:p.Ser314Ter, XP_047291493.1:p.Ser296Ter, XP_047291489.1:p.Ser314Ter, XP_047291490.1:p.Ser314Ter, XP_047291491.1:p.Ser296Ter, XP_047291496.1:p.Ser222Ter, XP_047291487.1:p.Ser314Ter, XP_047291498.1:p.Ser314Ter, XP_047291492.1:p.Ser296Ter, XP_047291495.1:p.Ser314Ter, XP_047291494.1:p.Ser296Ter, XP_047291497.1:p.Ser222Ter

Select item 149041029619.

rs1490410296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTT [Show Flanks]
Chromosome:: 17:17211822 (GRCh38)
17:17115137 (GRCh37)
Canonical SPDI:: NC_000017.11:17211822:T:TTTTTT
Gene:: FLCN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: TTTTT=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17211823_17211824insTTTTT, NC_000017.10:g.17115137_17115138insTTTTT, NG_008001.2:g.30366_30367insAAAAA

Select item 149035989720.

rs1490359897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:17225376 (GRCh38)
17:17128690 (GRCh37)
Canonical SPDI:: NC_000017.11:17225375:G:A,NC_000017.11:17225375:G:T
Gene:: FLCN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.17225376G>A, NC_000017.11:g.17225376G>T, NC_000017.10:g.17128690G>A, NC_000017.10:g.17128690G>T, NG_008001.2:g.16813C>T, NG_008001.2:g.16813C>A

<< First< Prev

Page of 432

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 8625

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity