Links from Gene
Items: 1 to 20 of 1000
1.
rs1491588019 has merged into rs1375841942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 5:131785075
(GRCh38)
5:131120768
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131785068:ATATATAT:ATATAT,NC_000005.10:131785068:ATATATAT:ATATATATAT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
-=0.00021/4
(TOMMO)
- HGVS:
2.
rs1491556738 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:131785069
(GRCh38)
5:131120763
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131785069::C
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00008/1
(
ALFA)
C=0.00995/120
(GnomAD)
- HGVS:
3.
rs1491553981 has merged into rs11292297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:131665908
(GRCh38)
5:131001601
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.03442/19
(NorthernSweden)
- HGVS:
NC_000005.10:g.131665908_131665919del, NC_000005.10:g.131665918_131665919del, NC_000005.10:g.131665919del, NC_000005.10:g.131665919dup, NC_000005.10:g.131665918_131665919dup, NC_000005.10:g.131665917_131665919dup, NC_000005.9:g.131001601_131001612del, NC_000005.9:g.131001611_131001612del, NC_000005.9:g.131001612del, NC_000005.9:g.131001612dup, NC_000005.9:g.131001611_131001612dup, NC_000005.9:g.131001610_131001612dup
4.
rs1491553856 has merged into rs368323566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:131685464
(GRCh38)
5:131021157
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
-=0.4734/2371
(1000Genomes)
- HGVS:
NC_000005.10:g.131685464_131685466del, NC_000005.10:g.131685465_131685466del, NC_000005.10:g.131685466del, NC_000005.10:g.131685466dup, NC_000005.10:g.131685465_131685466dup, NC_000005.10:g.131685464_131685466dup, NC_000005.10:g.131685463_131685466dup, NC_000005.10:g.131685462_131685466dup, NC_000005.10:g.131685461_131685466dup, NC_000005.10:g.131685460_131685466dup, NC_000005.10:g.131685457_131685466dup, NC_000005.9:g.131021157_131021159del, NC_000005.9:g.131021158_131021159del, NC_000005.9:g.131021159del, NC_000005.9:g.131021159dup, NC_000005.9:g.131021158_131021159dup, NC_000005.9:g.131021157_131021159dup, NC_000005.9:g.131021156_131021159dup, NC_000005.9:g.131021155_131021159dup, NC_000005.9:g.131021154_131021159dup, NC_000005.9:g.131021153_131021159dup, NC_000005.9:g.131021150_131021159dup
5.
rs1491535157 has merged into rs10579529 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:131772431
(GRCh38)
5:131108124
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.131772431_131772437del, NC_000005.10:g.131772432_131772437del, NC_000005.10:g.131772433_131772437del, NC_000005.10:g.131772434_131772437del, NC_000005.10:g.131772435_131772437del, NC_000005.10:g.131772436_131772437del, NC_000005.10:g.131772437del, NC_000005.10:g.131772437dup, NC_000005.10:g.131772436_131772437dup, NC_000005.9:g.131108124_131108130del, NC_000005.9:g.131108125_131108130del, NC_000005.9:g.131108126_131108130del, NC_000005.9:g.131108127_131108130del, NC_000005.9:g.131108128_131108130del, NC_000005.9:g.131108129_131108130del, NC_000005.9:g.131108130del, NC_000005.9:g.131108130dup, NC_000005.9:g.131108129_131108130dup
9.
rs1491475918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:131785029
(GRCh38)
5:131120722
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131785027:ACA:A
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00165/19
(GnomAD)
- HGVS:
11.
rs1491453223 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C,TATATATATAGTC,TATATATATATATC,TATATATATATC,TATATATATC
[Show Flanks]
- Chromosome:
- 5:131785028
(GRCh38)
5:131120722
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131785028:C:CC,NC_000005.10:131785028:C:CTATATATATAGTC,NC_000005.10:131785028:C:CTATATATATATATC,NC_000005.10:131785028:C:CTATATATATATC,NC_000005.10:131785028:C:CTATATATATC
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTATATATATAGTC=0./0
(
ALFA)
CTATATATAT=0.00102/12
(GnomAD)
- HGVS:
12.
rs1491409235 has merged into rs70974007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 5:131693343
(GRCh38)
5:131029036
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.131693335TA[4], NC_000005.10:g.131693335TA[5], NC_000005.10:g.131693335TA[6], NC_000005.10:g.131693335TA[7], NC_000005.10:g.131693335TA[8], NC_000005.10:g.131693335TA[9], NC_000005.10:g.131693335TA[10], NC_000005.10:g.131693335TA[11], NC_000005.10:g.131693335TA[12], NC_000005.10:g.131693335TA[13], NC_000005.10:g.131693335TA[15], NC_000005.10:g.131693335TA[16], NC_000005.10:g.131693335TA[17], NC_000005.10:g.131693335TA[18], NC_000005.10:g.131693335TA[19], NC_000005.10:g.131693335TA[20], NC_000005.10:g.131693335TA[21], NC_000005.10:g.131693335TA[22], NC_000005.10:g.131693335TA[23], NC_000005.10:g.131693335TA[25], NC_000005.10:g.131693335TA[26], NC_000005.10:g.131693335TA[28], NC_000005.10:g.131693335TA[33], NC_000005.9:g.131029028TA[4], NC_000005.9:g.131029028TA[5], NC_000005.9:g.131029028TA[6], NC_000005.9:g.131029028TA[7], NC_000005.9:g.131029028TA[8], NC_000005.9:g.131029028TA[9], NC_000005.9:g.131029028TA[10], NC_000005.9:g.131029028TA[11], NC_000005.9:g.131029028TA[12], NC_000005.9:g.131029028TA[13], NC_000005.9:g.131029028TA[15], NC_000005.9:g.131029028TA[16], NC_000005.9:g.131029028TA[17], NC_000005.9:g.131029028TA[18], NC_000005.9:g.131029028TA[19], NC_000005.9:g.131029028TA[20], NC_000005.9:g.131029028TA[21], NC_000005.9:g.131029028TA[22], NC_000005.9:g.131029028TA[23], NC_000005.9:g.131029028TA[25], NC_000005.9:g.131029028TA[26], NC_000005.9:g.131029028TA[28], NC_000005.9:g.131029028TA[33]
13.
rs1491403284 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 5:131662757
(GRCh38)
5:130998450
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131662756:TG:
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01467/174
(
ALFA)
-=0.00067/64
(GnomAD)
-=0.00584/165
(TOMMO)
- HGVS:
14.
rs1491377761 has merged into rs1449142035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 5:131785120
(GRCh38)
5:131120813
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131785113:ATATATAT:ATATAT,NC_000005.10:131785113:ATATATAT:ATATATATAT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
-=0.0001/1
(GnomAD)
- HGVS:
16.
rs1491369780 has merged into rs60617618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:131794239
(GRCh38)
5:131129932
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.131794239_131794254del, NC_000005.10:g.131794242_131794254del, NC_000005.10:g.131794244_131794254del, NC_000005.10:g.131794246_131794254del, NC_000005.10:g.131794247_131794254del, NC_000005.10:g.131794248_131794254del, NC_000005.10:g.131794249_131794254del, NC_000005.10:g.131794250_131794254del, NC_000005.10:g.131794251_131794254del, NC_000005.10:g.131794252_131794254del, NC_000005.10:g.131794253_131794254del, NC_000005.10:g.131794254del, NC_000005.10:g.131794254dup, NC_000005.10:g.131794253_131794254dup, NC_000005.10:g.131794252_131794254dup, NC_000005.10:g.131794251_131794254dup, NC_000005.10:g.131794250_131794254dup, NC_000005.10:g.131794249_131794254dup, NC_000005.10:g.131794247_131794254dup, NC_000005.10:g.131794242_131794254dup, NC_000005.10:g.131794254_131794255insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.131794230_131794254A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.131129932_131129947del, NC_000005.9:g.131129935_131129947del, NC_000005.9:g.131129937_131129947del, NC_000005.9:g.131129939_131129947del, NC_000005.9:g.131129940_131129947del, NC_000005.9:g.131129941_131129947del, NC_000005.9:g.131129942_131129947del, NC_000005.9:g.131129943_131129947del, NC_000005.9:g.131129944_131129947del, NC_000005.9:g.131129945_131129947del, NC_000005.9:g.131129946_131129947del, NC_000005.9:g.131129947del, NC_000005.9:g.131129947dup, NC_000005.9:g.131129946_131129947dup, NC_000005.9:g.131129945_131129947dup, NC_000005.9:g.131129944_131129947dup, NC_000005.9:g.131129943_131129947dup, NC_000005.9:g.131129942_131129947dup, NC_000005.9:g.131129940_131129947dup, NC_000005.9:g.131129935_131129947dup, NC_000005.9:g.131129947_131129948insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.131129923_131129947A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
18.
rs1491336329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:131661218
(GRCh38)
5:130996912
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131661218:T:TGT,NC_000005.10:131661218:T:TGTGT,NC_000005.10:131661218:T:TGTGTGT,NC_000005.10:131661218:T:TGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.131661219_131661220insGT, NC_000005.10:g.131661219_131661220insGTGT, NC_000005.10:g.131661220GT[3], NC_000005.10:g.131661220GT[4], NC_000005.10:g.131661220GT[5], NC_000005.10:g.131661220GT[6], NC_000005.10:g.131661220GT[7], NC_000005.10:g.131661220GT[8], NC_000005.10:g.131661220GT[9], NC_000005.10:g.131661220GT[10], NC_000005.10:g.131661220GT[11], NC_000005.10:g.131661220GT[12], NC_000005.10:g.131661220GT[13], NC_000005.10:g.131661220GT[15], NC_000005.9:g.130996912_130996913insGT, NC_000005.9:g.130996912_130996913insGTGT, NC_000005.9:g.130996913GT[3], NC_000005.9:g.130996913GT[4], NC_000005.9:g.130996913GT[5], NC_000005.9:g.130996913GT[6], NC_000005.9:g.130996913GT[7], NC_000005.9:g.130996913GT[8], NC_000005.9:g.130996913GT[9], NC_000005.9:g.130996913GT[10], NC_000005.9:g.130996913GT[11], NC_000005.9:g.130996913GT[12], NC_000005.9:g.130996913GT[13], NC_000005.9:g.130996913GT[15]
19.
rs1491326494 has merged into rs34731837 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 5:131661220
(GRCh38)
5:130996913
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131661217:TTTT:TT,NC_000005.10:131661217:TTTT:TTT,NC_000005.10:131661217:TTTT:TTTTT,NC_000005.10:131661217:TTTT:TTTTTT
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.00431/2
(NorthernSweden)
-=0.00761/118
(TOMMO)
-=0.01559/27
(Korea1K)
TT=0.20541/205
(GoNL)
- HGVS:
20.
rs1491307423 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:131665899
(GRCh38)
5:131001592
(GRCh37)
- Canonical SPDI:
- NC_000005.10:131665898:CT:
- Gene:
- FNIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.007081/84
(
ALFA)
-=0.009041/953
(GnomAD)
- HGVS: