Links from Gene
Items: 1 to 20 of 1000
2.
rs1491523568 has merged into rs35232247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57703974
(GRCh38)
16:57737886
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57703967:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000016.10:g.57703974_57703990del, NC_000016.10:g.57703978_57703990del, NC_000016.10:g.57703979_57703990del, NC_000016.10:g.57703980_57703990del, NC_000016.10:g.57703982_57703990del, NC_000016.10:g.57703983_57703990del, NC_000016.10:g.57703984_57703990del, NC_000016.10:g.57703985_57703990del, NC_000016.10:g.57703986_57703990del, NC_000016.10:g.57703987_57703990del, NC_000016.10:g.57703988_57703990del, NC_000016.10:g.57703989_57703990del, NC_000016.10:g.57703990del, NC_000016.10:g.57703990dup, NC_000016.10:g.57703989_57703990dup, NC_000016.10:g.57703988_57703990dup, NC_000016.10:g.57703987_57703990dup, NC_000016.10:g.57703986_57703990dup, NC_000016.10:g.57703985_57703990dup, NC_000016.9:g.57737886_57737902del, NC_000016.9:g.57737890_57737902del, NC_000016.9:g.57737891_57737902del, NC_000016.9:g.57737892_57737902del, NC_000016.9:g.57737894_57737902del, NC_000016.9:g.57737895_57737902del, NC_000016.9:g.57737896_57737902del, NC_000016.9:g.57737897_57737902del, NC_000016.9:g.57737898_57737902del, NC_000016.9:g.57737899_57737902del, NC_000016.9:g.57737900_57737902del, NC_000016.9:g.57737901_57737902del, NC_000016.9:g.57737902del, NC_000016.9:g.57737902dup, NC_000016.9:g.57737901_57737902dup, NC_000016.9:g.57737900_57737902dup, NC_000016.9:g.57737899_57737902dup, NC_000016.9:g.57737898_57737902dup, NC_000016.9:g.57737897_57737902dup
3.
rs1491513657 has merged into rs56358409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57717413
(GRCh38)
16:57751325
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.08873/329
(TWINSUK)
AA=0.09471/365
(ALSPAC)
A=0.25/10
(GENOME_DK)
A=0.27157/1360
(1000Genomes)
- HGVS:
NC_000016.10:g.57717413_57717416del, NC_000016.10:g.57717414_57717416del, NC_000016.10:g.57717415_57717416del, NC_000016.10:g.57717416del, NC_000016.10:g.57717416dup, NC_000016.10:g.57717415_57717416dup, NC_000016.10:g.57717414_57717416dup, NC_000016.10:g.57717413_57717416dup, NC_000016.10:g.57717407_57717416dup, NC_000016.9:g.57751325_57751328del, NC_000016.9:g.57751326_57751328del, NC_000016.9:g.57751327_57751328del, NC_000016.9:g.57751328del, NC_000016.9:g.57751328dup, NC_000016.9:g.57751327_57751328dup, NC_000016.9:g.57751326_57751328dup, NC_000016.9:g.57751325_57751328dup, NC_000016.9:g.57751319_57751328dup
4.
rs1491492227 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:57703990
(GRCh38)
16:57737903
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57703990::T
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491480800 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:57703967
(GRCh38)
16:57737879
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57703966:CA:
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00253/30
(
ALFA)
-=0.00074/42
(GnomAD)
-=0.00239/67
(TOMMO)
- HGVS:
6.
rs1491480111 has merged into rs59120133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57700666
(GRCh38)
16:57734578
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57700656:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.57700666_57700676del, NC_000016.10:g.57700668_57700676del, NC_000016.10:g.57700669_57700676del, NC_000016.10:g.57700670_57700676del, NC_000016.10:g.57700671_57700676del, NC_000016.10:g.57700672_57700676del, NC_000016.10:g.57700673_57700676del, NC_000016.10:g.57700674_57700676del, NC_000016.10:g.57700675_57700676del, NC_000016.10:g.57700676del, NC_000016.10:g.57700676dup, NC_000016.10:g.57700675_57700676dup, NC_000016.10:g.57700674_57700676dup, NC_000016.10:g.57700673_57700676dup, NC_000016.10:g.57700672_57700676dup, NC_000016.10:g.57700671_57700676dup, NC_000016.10:g.57700670_57700676dup, NC_000016.10:g.57700669_57700676dup, NC_000016.10:g.57700668_57700676dup, NC_000016.10:g.57700666_57700676dup, NC_000016.10:g.57700660_57700676dup, NC_000016.10:g.57700658_57700676dup, NC_000016.10:g.57700657_57700676dup, NC_000016.10:g.57700676_57700677insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.57734578_57734588del, NC_000016.9:g.57734580_57734588del, NC_000016.9:g.57734581_57734588del, NC_000016.9:g.57734582_57734588del, NC_000016.9:g.57734583_57734588del, NC_000016.9:g.57734584_57734588del, NC_000016.9:g.57734585_57734588del, NC_000016.9:g.57734586_57734588del, NC_000016.9:g.57734587_57734588del, NC_000016.9:g.57734588del, NC_000016.9:g.57734588dup, NC_000016.9:g.57734587_57734588dup, NC_000016.9:g.57734586_57734588dup, NC_000016.9:g.57734585_57734588dup, NC_000016.9:g.57734584_57734588dup, NC_000016.9:g.57734583_57734588dup, NC_000016.9:g.57734582_57734588dup, NC_000016.9:g.57734581_57734588dup, NC_000016.9:g.57734580_57734588dup, NC_000016.9:g.57734578_57734588dup, NC_000016.9:g.57734572_57734588dup, NC_000016.9:g.57734570_57734588dup, NC_000016.9:g.57734569_57734588dup, NC_000016.9:g.57734588_57734589insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
8.
rs1491396167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:57720263
(GRCh38)
16:57754175
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57720259:ACACA:ACA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491330397 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCCACAGTCTGG
[Show Flanks]
- Chromosome:
- 16:57720260
(GRCh38)
16:57754173
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57720260:CACAGTCTGGCTCCACAGTCTGG:CACAGTCTGGCTCCACAGTCTGGCTCCACAGTCTGG
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACAGTCTGGCTCCACAGTCTGGCTCCACAGTCTGG=0./0
(
ALFA)
CACAGTCTGGCTC=0.000008/2
(TOPMED)
CACAGTCTGGCTC=0.001092/2
(Korea1K)
- HGVS:
11.
rs1491275211 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:57717402
(GRCh38)
16:57751315
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57717402::G
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS:
13.
rs1491196449 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:57694495
(GRCh38)
16:57728407
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57694494:AT:
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.0004/40
(GnomAD)
- HGVS:
14.
rs1491182495 has merged into rs10536559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57709141
(GRCh38)
16:57743053
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57709128:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3586/1796
(1000Genomes)
- HGVS:
NC_000016.10:g.57709141_57709145del, NC_000016.10:g.57709142_57709145del, NC_000016.10:g.57709143_57709145del, NC_000016.10:g.57709144_57709145del, NC_000016.10:g.57709145del, NC_000016.10:g.57709145dup, NC_000016.10:g.57709144_57709145dup, NC_000016.10:g.57709143_57709145dup, NC_000016.9:g.57743053_57743057del, NC_000016.9:g.57743054_57743057del, NC_000016.9:g.57743055_57743057del, NC_000016.9:g.57743056_57743057del, NC_000016.9:g.57743057del, NC_000016.9:g.57743057dup, NC_000016.9:g.57743056_57743057dup, NC_000016.9:g.57743055_57743057dup
15.
rs1491132014 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AAA,AAAA,TAA,TAAA
[Show Flanks]
- Chromosome:
- 16:57716501
(GRCh38)
16:57750414
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57716501::A,NC_000016.10:57716501::AAA,NC_000016.10:57716501::AAAA,NC_000016.10:57716501::TAA,NC_000016.10:57716501::TAAA
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
TAAA=0.00092/26
(TOMMO)
- HGVS:
16.
rs1491048717 has merged into rs750231843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 16:57705806
(GRCh38)
16:57739718
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57705804:TTT:T
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000029/3
(GnomAD)
- HGVS:
17.
rs1490980615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:57717956
(GRCh38)
16:57751868
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57717955:T:G
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490866012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:57731236
(GRCh38)
16:57765148
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57731235:A:G
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.57731236A>G, NC_000016.9:g.57765148A>G, NG_046947.1:g.517A>G, NM_032269.6:c.2603A>G, NM_032269.5:c.2603A>G, NM_001289162.2:c.2603A>G, NM_001289162.1:c.2603A>G, NM_001289163.2:c.2408A>G, NM_001289163.1:c.2408A>G, XM_047434768.1:c.2603A>G, XM_047434770.1:c.2474A>G, XM_047434769.1:c.2474A>G, XM_047434771.1:c.2408A>G, XM_047434772.1:c.2279A>G, XM_047434773.1:c.1748A>G, NP_115645.4:p.Glu868Gly, NP_001276091.1:p.Glu868Gly, NP_001276092.1:p.Glu803Gly, XP_047290724.1:p.Glu868Gly, XP_047290726.1:p.Glu825Gly, XP_047290725.1:p.Glu825Gly, XP_047290727.1:p.Glu803Gly, XP_047290728.1:p.Glu760Gly, XP_047290729.1:p.Glu583Gly
19.
rs1490840886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:57705626
(GRCh38)
16:57739538
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57705625:T:C
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00049/8
(
ALFA)
C=0.000093/11
(GnomAD)
C=0.000149/3
(TOMMO)
- HGVS:
20.
rs1490833834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57695141
(GRCh38)
16:57729053
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57695140:C:T
- Gene:
- DRC7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS: