Links from Gene
Items: 1 to 20 of 1000
2.
rs1491564321 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 4:82653715
(GRCh38)
4:83574868
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82653713:AGA:A
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491552201 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:82637848
(GRCh38)
4:83559002
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82637848:C:CC
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491538150 has merged into rs11340677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:82662869
(GRCh38)
4:83584022
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82662857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.82662869_82662876del, NC_000004.12:g.82662873_82662876del, NC_000004.12:g.82662874_82662876del, NC_000004.12:g.82662875_82662876del, NC_000004.12:g.82662876del, NC_000004.12:g.82662876dup, NC_000004.12:g.82662875_82662876dup, NC_000004.12:g.82662874_82662876dup, NC_000004.12:g.82662872_82662876dup, NC_000004.12:g.82662871_82662876dup, NC_000004.12:g.82662861_82662876dup, NC_000004.12:g.82662858_82662876dup, NC_000004.11:g.83584022_83584029del, NC_000004.11:g.83584026_83584029del, NC_000004.11:g.83584027_83584029del, NC_000004.11:g.83584028_83584029del, NC_000004.11:g.83584029del, NC_000004.11:g.83584029dup, NC_000004.11:g.83584028_83584029dup, NC_000004.11:g.83584027_83584029dup, NC_000004.11:g.83584025_83584029dup, NC_000004.11:g.83584024_83584029dup, NC_000004.11:g.83584014_83584029dup, NC_000004.11:g.83584011_83584029dup
6.
rs1491499235 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:82799153
(GRCh38)
4:83720306
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82799152:CA:
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000248/4
(TOMMO)
-=0.000284/30
(GnomAD)
- HGVS:
7.
rs1491480875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:82665278
(GRCh38)
4:83586432
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82665278:AAAAAAA:AAAAAAAA
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.000054/7
(GnomAD)
- HGVS:
8.
rs1491466332 has merged into rs200082291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:82734780
(GRCh38)
4:83655933
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:82734766:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2283/137
(NorthernSweden)
-=0.4501/2254
(1000Genomes)
- HGVS:
NC_000004.12:g.82734780_82734782del, NC_000004.12:g.82734781_82734782del, NC_000004.12:g.82734782del, NC_000004.12:g.82734782dup, NC_000004.12:g.82734781_82734782dup, NC_000004.12:g.82734774_82734782dup, NC_000004.11:g.83655933_83655935del, NC_000004.11:g.83655934_83655935del, NC_000004.11:g.83655935del, NC_000004.11:g.83655935dup, NC_000004.11:g.83655934_83655935dup, NC_000004.11:g.83655927_83655935dup
9.
rs1491465251 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:82664961
(GRCh38)
4:83586114
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82664960:AT:
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00014/4
(TOMMO)
-=0.00055/1
(Korea1K)
- HGVS:
10.
rs1491447606 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:82648538
(GRCh38)
4:83569691
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82648537:TG:
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00007/1
(GnomAD)
- HGVS:
11.
rs1491445516 has merged into rs368839845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 4:82664983
(GRCh38)
4:83586136
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:82664961:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.82664963CT[10], NC_000004.12:g.82664963CT[11], NC_000004.12:g.82664963CT[12], NC_000004.12:g.82664963CT[13], NC_000004.12:g.82664963CT[14], NC_000004.12:g.82664963CT[15], NC_000004.12:g.82664963CT[16], NC_000004.12:g.82664963CT[17], NC_000004.12:g.82664963CT[18], NC_000004.12:g.82664963CT[20], NC_000004.12:g.82664963CT[21], NC_000004.12:g.82664963CT[22], NC_000004.12:g.82664963CT[23], NC_000004.12:g.82664963CT[24], NC_000004.12:g.82664963CT[25], NC_000004.12:g.82664963CT[26], NC_000004.12:g.82664963CT[27], NC_000004.12:g.82664963CT[28], NC_000004.12:g.82664963CT[29], NC_000004.11:g.83586116CT[10], NC_000004.11:g.83586116CT[11], NC_000004.11:g.83586116CT[12], NC_000004.11:g.83586116CT[13], NC_000004.11:g.83586116CT[14], NC_000004.11:g.83586116CT[15], NC_000004.11:g.83586116CT[16], NC_000004.11:g.83586116CT[17], NC_000004.11:g.83586116CT[18], NC_000004.11:g.83586116CT[20], NC_000004.11:g.83586116CT[21], NC_000004.11:g.83586116CT[22], NC_000004.11:g.83586116CT[23], NC_000004.11:g.83586116CT[24], NC_000004.11:g.83586116CT[25], NC_000004.11:g.83586116CT[26], NC_000004.11:g.83586116CT[27], NC_000004.11:g.83586116CT[28], NC_000004.11:g.83586116CT[29]
12.
rs1491438037 has merged into rs1553917690 [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,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:82720454
(GRCh38)
4:83641607
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82720441:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.02273/574
(TOMMO)
- HGVS:
NC_000004.12:g.82720454_82720463del, NC_000004.12:g.82720455_82720463del, NC_000004.12:g.82720456_82720463del, NC_000004.12:g.82720457_82720463del, NC_000004.12:g.82720458_82720463del, NC_000004.12:g.82720459_82720463del, NC_000004.12:g.82720460_82720463del, NC_000004.12:g.82720461_82720463del, NC_000004.12:g.82720462_82720463del, NC_000004.12:g.82720463del, NC_000004.12:g.82720463dup, NC_000004.12:g.82720462_82720463dup, NC_000004.12:g.82720461_82720463dup, NC_000004.12:g.82720460_82720463dup, NC_000004.12:g.82720459_82720463dup, NC_000004.12:g.82720458_82720463dup, NC_000004.12:g.82720457_82720463dup, NC_000004.12:g.82720456_82720463dup, NC_000004.12:g.82720455_82720463dup, NC_000004.12:g.82720454_82720463dup, NC_000004.12:g.82720453_82720463dup, NC_000004.12:g.82720452_82720463dup, NC_000004.12:g.82720451_82720463dup, NC_000004.12:g.82720450_82720463dup, NC_000004.12:g.82720449_82720463dup, NC_000004.12:g.82720448_82720463dup, NC_000004.12:g.82720447_82720463dup, NC_000004.12:g.82720446_82720463dup, NC_000004.12:g.82720444_82720463dup, NC_000004.12:g.82720442_82720463dup, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.82720463_82720464insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641607_83641616del, NC_000004.11:g.83641608_83641616del, NC_000004.11:g.83641609_83641616del, NC_000004.11:g.83641610_83641616del, NC_000004.11:g.83641611_83641616del, NC_000004.11:g.83641612_83641616del, NC_000004.11:g.83641613_83641616del, NC_000004.11:g.83641614_83641616del, NC_000004.11:g.83641615_83641616del, NC_000004.11:g.83641616del, NC_000004.11:g.83641616dup, NC_000004.11:g.83641615_83641616dup, NC_000004.11:g.83641614_83641616dup, NC_000004.11:g.83641613_83641616dup, NC_000004.11:g.83641612_83641616dup, NC_000004.11:g.83641611_83641616dup, NC_000004.11:g.83641610_83641616dup, NC_000004.11:g.83641609_83641616dup, NC_000004.11:g.83641608_83641616dup, NC_000004.11:g.83641607_83641616dup, NC_000004.11:g.83641606_83641616dup, NC_000004.11:g.83641605_83641616dup, NC_000004.11:g.83641604_83641616dup, NC_000004.11:g.83641603_83641616dup, NC_000004.11:g.83641602_83641616dup, NC_000004.11:g.83641601_83641616dup, NC_000004.11:g.83641600_83641616dup, NC_000004.11:g.83641599_83641616dup, NC_000004.11:g.83641597_83641616dup, NC_000004.11:g.83641595_83641616dup, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.83641616_83641617insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491434697 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:82665278
(GRCh38)
4:83586431
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82665277:TA:
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000111/14
(GnomAD)
- HGVS:
14.
rs1491434548 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ACAT,ACGCAT,AT
[Show Flanks]
- Chromosome:
- 4:82667287
(GRCh38)
4:83588441
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82667287::ACAT,NC_000004.12:82667287::ACGCAT,NC_000004.12:82667287::AT
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0.000762/9
(
ALFA)
ACAT=0.000004/1
(TOPMED)
ACGCAT=0.000071/1
(TOMMO)
AT=0.003592/23
(1000Genomes)
- HGVS:
16.
rs1491422417 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GAGAGAG
[Show Flanks]
- Chromosome:
- 4:82679241
(GRCh38)
4:83600395
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82679241::G,NC_000004.12:82679241::GAGAGAG
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.002/1
(NorthernSweden)
- HGVS:
18.
rs1491402385 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:82702131
(GRCh38)
4:83623285
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82702131::A
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00102/6
(GnomAD)
- HGVS:
20.
rs1491363776 has merged into rs35422547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:82665246
(GRCh38)
4:83586399
(GRCh37)
- Canonical SPDI:
- NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:82665231:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SCD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0243/13
(NorthernSweden)
-=0.3902/1954
(1000Genomes)
- HGVS:
NC_000004.12:g.82665246_82665250del, NC_000004.12:g.82665247_82665250del, NC_000004.12:g.82665248_82665250del, NC_000004.12:g.82665249_82665250del, NC_000004.12:g.82665250del, NC_000004.12:g.82665250dup, NC_000004.12:g.82665249_82665250dup, NC_000004.12:g.82665248_82665250dup, NC_000004.12:g.82665247_82665250dup, NC_000004.12:g.82665246_82665250dup, NC_000004.11:g.83586399_83586403del, NC_000004.11:g.83586400_83586403del, NC_000004.11:g.83586401_83586403del, NC_000004.11:g.83586402_83586403del, NC_000004.11:g.83586403del, NC_000004.11:g.83586403dup, NC_000004.11:g.83586402_83586403dup, NC_000004.11:g.83586401_83586403dup, NC_000004.11:g.83586400_83586403dup, NC_000004.11:g.83586399_83586403dup