Links from Gene
Items: 1 to 20 of 633
1.
rs1491438685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATATTT,ATATATATTT,ATTT
[Show Flanks]
- Chromosome:
- X:45729874
(GRCh38)
X:45589371
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729874:T:TATATATATATTT,NC_000023.11:45729874:T:TATATATATTT,NC_000023.11:45729874:T:TATTT
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATTT=0./0
(
ALFA)
TATT=0.00004/1
(GnomAD)
- HGVS:
2.
rs1490492965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:45729757
(GRCh38)
X:45589270
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729756:T:C,NC_000023.11:45729756:T:G
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.01288/37
(KOREAN)
- HGVS:
3.
rs1490093107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:45729161
(GRCh38)
X:45588674
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729160:T:C
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0./0
(SGDP_PRJ)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490001329 has merged into rs1187167276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- X:45729821
(GRCh38)
X:45589335
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATAT=0./0
(
ALFA)
TAT=0.00106/4
(1000Genomes)
AT=0.00433/47
(TOMMO)
- HGVS:
NC_000023.11:g.45729801AT[10], NC_000023.11:g.45729801AT[11], NC_000023.11:g.45729801AT[12], NC_000023.11:g.45729801AT[13], NC_000023.11:g.45729801AT[14], NC_000023.11:g.45729801AT[15], NC_000023.11:g.45729801AT[16], NC_000023.11:g.45729801AT[17], NC_000023.11:g.45729801AT[18], NC_000023.11:g.45729801AT[19], NC_000023.11:g.45729801AT[20], NC_000023.11:g.45729801AT[21], NC_000023.11:g.45729801AT[22], NC_000023.11:g.45729801AT[24], NC_000023.11:g.45729801AT[25], NC_000023.11:g.45729801AT[26], NC_000023.11:g.45729801AT[28], NC_000023.11:g.45729801AT[30], NW_004070879.1:g.54466AT[10], NW_004070879.1:g.54466AT[11], NW_004070879.1:g.54466AT[12], NW_004070879.1:g.54466AT[13], NW_004070879.1:g.54466AT[14], NW_004070879.1:g.54466AT[15], NW_004070879.1:g.54466AT[16], NW_004070879.1:g.54466AT[17], NW_004070879.1:g.54466AT[18], NW_004070879.1:g.54466AT[19], NW_004070879.1:g.54466AT[20], NW_004070879.1:g.54466AT[21], NW_004070879.1:g.54466AT[22], NW_004070879.1:g.54466AT[24], NW_004070879.1:g.54466AT[25], NW_004070879.1:g.54466AT[26], NW_004070879.1:g.54466AT[28], NW_004070879.1:g.54466AT[30], NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589319del, NC_000023.10:g.45589315_45589318delinsT, NC_000023.10:g.45589315_45589318delinsTAT, NC_000023.10:g.45589315_45589318delinsTATAT, NC_000023.10:g.45589315_45589318delinsTATATAT, NC_000023.10:g.45589315_45589318delinsTATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATATATATATAT
5.
rs1489783539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:45729808
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729807:T:A
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00143/17
(
ALFA)
A=0.01068/136
(TOMMO)
- HGVS:
6.
rs1489752201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:45729178
(GRCh38)
X:45588691
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729177:C:T
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
7.
rs1487821286 has merged into rs1179414608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGATAGATAGATAGATAGATAGAT>-,AGAT,AGATAGAT,AGATAGATAGAT,AGATAGATAGATAGAT,AGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT
[Show Flanks]
- Chromosome:
- X:45730416
(GRCh38)
X:45589916
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT,NC_000023.11:45730389:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT:ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAGATAGATAGATAGATAGATAGATAGAT=0./0
(
ALFA)
- HGVS:
NC_000023.11:g.45730392AGAT[6], NC_000023.11:g.45730392AGAT[7], NC_000023.11:g.45730392AGAT[8], NC_000023.11:g.45730392AGAT[9], NC_000023.11:g.45730392AGAT[10], NC_000023.11:g.45730392AGAT[11], NC_000023.11:g.45730392AGAT[13], NC_000023.11:g.45730392AGAT[14], NC_000023.11:g.45730392AGAT[15], NC_000023.11:g.45730392AGAT[16], NC_000023.11:g.45730392AGAT[17], NW_004070879.1:g.55057AGAT[6], NW_004070879.1:g.55057AGAT[7], NW_004070879.1:g.55057AGAT[8], NW_004070879.1:g.55057AGAT[9], NW_004070879.1:g.55057AGAT[10], NW_004070879.1:g.55057AGAT[11], NW_004070879.1:g.55057AGAT[13], NW_004070879.1:g.55057AGAT[14], NW_004070879.1:g.55057AGAT[15], NW_004070879.1:g.55057AGAT[16], NW_004070879.1:g.55057AGAT[17], NC_000023.10:g.45589889_45589890insA, NC_000023.10:g.45589890_45589912del, NC_000023.10:g.45589890_45589908del, NC_000023.10:g.45589890_45589904del, NC_000023.10:g.45589890_45589900del, NC_000023.10:g.45589883GATAGAT[1], NC_000023.10:g.45589887GAT[1], NC_000023.10:g.45589889_45589890insAGATA, NC_000023.10:g.45589889_45589890insAGATAGATA, NC_000023.10:g.45589889_45589890insAGATAGATAGATA, NC_000023.10:g.45589889_45589890insAGATAGATAGATAGATA, NC_000023.10:g.45589889_45589890insAGATAGATAGATAGATAGATA
8.
rs1486493880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:45729321
(GRCh38)
X:45588834
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729320:G:A
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000057/15
(TOPMED)
A=0.000058/6
(GnomAD)
- HGVS:
9.
rs1486210822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:45731284
(GRCh38)
X:45590773
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45731283:A:G
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000208/1
(1000Genomes)
G=0.000215/57
(TOPMED)
G=0.00022/23
(GnomAD)
- HGVS:
12.
rs1483190183 has merged into rs1187167276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- X:45729821
(GRCh38)
X:45589335
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:45729800:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATAT=0./0
(
ALFA)
TAT=0.00106/4
(1000Genomes)
AT=0.00433/47
(TOMMO)
- HGVS:
NC_000023.11:g.45729801AT[10], NC_000023.11:g.45729801AT[11], NC_000023.11:g.45729801AT[12], NC_000023.11:g.45729801AT[13], NC_000023.11:g.45729801AT[14], NC_000023.11:g.45729801AT[15], NC_000023.11:g.45729801AT[16], NC_000023.11:g.45729801AT[17], NC_000023.11:g.45729801AT[18], NC_000023.11:g.45729801AT[19], NC_000023.11:g.45729801AT[20], NC_000023.11:g.45729801AT[21], NC_000023.11:g.45729801AT[22], NC_000023.11:g.45729801AT[24], NC_000023.11:g.45729801AT[25], NC_000023.11:g.45729801AT[26], NC_000023.11:g.45729801AT[28], NC_000023.11:g.45729801AT[30], NW_004070879.1:g.54466AT[10], NW_004070879.1:g.54466AT[11], NW_004070879.1:g.54466AT[12], NW_004070879.1:g.54466AT[13], NW_004070879.1:g.54466AT[14], NW_004070879.1:g.54466AT[15], NW_004070879.1:g.54466AT[16], NW_004070879.1:g.54466AT[17], NW_004070879.1:g.54466AT[18], NW_004070879.1:g.54466AT[19], NW_004070879.1:g.54466AT[20], NW_004070879.1:g.54466AT[21], NW_004070879.1:g.54466AT[22], NW_004070879.1:g.54466AT[24], NW_004070879.1:g.54466AT[25], NW_004070879.1:g.54466AT[26], NW_004070879.1:g.54466AT[28], NW_004070879.1:g.54466AT[30], NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589319del, NC_000023.10:g.45589315_45589318delinsT, NC_000023.10:g.45589315_45589318delinsTAT, NC_000023.10:g.45589315_45589318delinsTATAT, NC_000023.10:g.45589315_45589318delinsTATATAT, NC_000023.10:g.45589315_45589318delinsTATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATATATAT, NC_000023.10:g.45589315_45589318delinsTATATATATATATATATATATATATATATATATATATAT
13.
rs1483039967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:45731522
(GRCh38)
X:45591011
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45731521:A:G
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1482785156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATAGAT>-,GATAGATGATAGAT
[Show Flanks]
- Chromosome:
- X:45730440
(GRCh38)
X:45589929
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45730432:GATAGATGATAGAT:GATAGAT,NC_000023.11:45730432:GATAGATGATAGAT:GATAGATGATAGATGATAGAT
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GATAGATGATAGATGATAGAT=0./0
(
ALFA)
- HGVS:
16.
rs1482056803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:45732240
(GRCh38)
X:45591729
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45732239:A:T
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1482025065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:45730539
(GRCh38)
X:45590028
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45730538:T:C
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1480605503 has merged into rs1198400522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:45729792
(GRCh38)
X:45589305
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:45729782:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.45729792_45729801del, NC_000023.11:g.45729793_45729801del, NC_000023.11:g.45729794_45729801del, NC_000023.11:g.45729795_45729801del, NC_000023.11:g.45729796_45729801del, NC_000023.11:g.45729797_45729801del, NC_000023.11:g.45729798_45729801del, NC_000023.11:g.45729799_45729801del, NC_000023.11:g.45729800_45729801del, NC_000023.11:g.45729801del, NC_000023.11:g.45729801dup, NC_000023.11:g.45729800_45729801dup, NC_000023.11:g.45729799_45729801dup, NC_000023.11:g.45729798_45729801dup, NC_000023.11:g.45729797_45729801dup, NC_000023.11:g.45729796_45729801dup, NC_000023.11:g.45729795_45729801dup, NC_000023.11:g.45729794_45729801dup, NC_000023.11:g.45729793_45729801dup, NC_000023.11:g.45729792_45729801dup, NC_000023.11:g.45729791_45729801dup, NC_000023.11:g.45729790_45729801dup, NW_004070879.1:g.54457_54466del, NW_004070879.1:g.54458_54466del, NW_004070879.1:g.54459_54466del, NW_004070879.1:g.54460_54466del, NW_004070879.1:g.54461_54466del, NW_004070879.1:g.54462_54466del, NW_004070879.1:g.54463_54466del, NW_004070879.1:g.54464_54466del, NW_004070879.1:g.54465_54466del, NW_004070879.1:g.54466del, NW_004070879.1:g.54466dup, NW_004070879.1:g.54465_54466dup, NW_004070879.1:g.54464_54466dup, NW_004070879.1:g.54463_54466dup, NW_004070879.1:g.54462_54466dup, NW_004070879.1:g.54461_54466dup, NW_004070879.1:g.54460_54466dup, NW_004070879.1:g.54459_54466dup, NW_004070879.1:g.54458_54466dup, NW_004070879.1:g.54457_54466dup, NW_004070879.1:g.54456_54466dup, NW_004070879.1:g.54455_54466dup, NC_000023.10:g.45589310_45589319del, NC_000023.10:g.45589311_45589319del, NC_000023.10:g.45589312_45589319del, NC_000023.10:g.45589313_45589319del, NC_000023.10:g.45589314_45589319del, NC_000023.10:g.45589315_45589319del, NC_000023.10:g.45589316_45589319del, NC_000023.10:g.45589317_45589319del, NC_000023.10:g.45589318_45589319del, NC_000023.10:g.45589319del, NC_000023.10:g.45589319dup, NC_000023.10:g.45589318_45589319dup, NC_000023.10:g.45589317_45589319dup, NC_000023.10:g.45589316_45589319dup, NC_000023.10:g.45589315_45589319dup, NC_000023.10:g.45589314_45589319dup, NC_000023.10:g.45589313_45589319dup, NC_000023.10:g.45589312_45589319dup, NC_000023.10:g.45589311_45589319dup, NC_000023.10:g.45589310_45589319dup, NC_000023.10:g.45589309_45589319dup, NC_000023.10:g.45589308_45589319dup
19.
rs1479627314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- X:45729802
(GRCh38)
X:-1
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729801:T:A,NC_000023.11:45729801:T:C
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.15577/1072
(GnomAD)
A=0.28342/3657
(TOMMO)
- HGVS:
20.
rs1479497321 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AGAC,C
[Show Flanks]
- Chromosome:
- X:45729829
(GRCh38)
X:45589322
(GRCh37)
- Canonical SPDI:
- NC_000023.11:45729829::AGAC,NC_000023.11:45729829::C
- Gene:
- MFFP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
AGAC=0.00086/33
(GnomAD)
- HGVS: