Links from Gene
Items: 1 to 20 of 26454
1.
rs1491581208 has merged into rs35590788 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:153020149
(GRCh38)
6:153341284
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:153020138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.153020149_153020171del, NC_000006.12:g.153020150_153020171del, NC_000006.12:g.153020152_153020171del, NC_000006.12:g.153020153_153020171del, NC_000006.12:g.153020154_153020171del, NC_000006.12:g.153020155_153020171del, NC_000006.12:g.153020156_153020171del, NC_000006.12:g.153020157_153020171del, NC_000006.12:g.153020158_153020171del, NC_000006.12:g.153020159_153020171del, NC_000006.12:g.153020160_153020171del, NC_000006.12:g.153020161_153020171del, NC_000006.12:g.153020162_153020171del, NC_000006.12:g.153020163_153020171del, NC_000006.12:g.153020164_153020171del, NC_000006.12:g.153020165_153020171del, NC_000006.12:g.153020166_153020171del, NC_000006.12:g.153020167_153020171del, NC_000006.12:g.153020168_153020171del, NC_000006.12:g.153020169_153020171del, NC_000006.12:g.153020170_153020171del, NC_000006.12:g.153020171del, NC_000006.12:g.153020171dup, NC_000006.12:g.153020170_153020171dup, NC_000006.12:g.153020169_153020171dup, NC_000006.12:g.153020168_153020171dup, NC_000006.11:g.153341284_153341306del, NC_000006.11:g.153341285_153341306del, NC_000006.11:g.153341287_153341306del, NC_000006.11:g.153341288_153341306del, NC_000006.11:g.153341289_153341306del, NC_000006.11:g.153341290_153341306del, NC_000006.11:g.153341291_153341306del, NC_000006.11:g.153341292_153341306del, NC_000006.11:g.153341293_153341306del, NC_000006.11:g.153341294_153341306del, NC_000006.11:g.153341295_153341306del, NC_000006.11:g.153341296_153341306del, NC_000006.11:g.153341297_153341306del, NC_000006.11:g.153341298_153341306del, NC_000006.11:g.153341299_153341306del, NC_000006.11:g.153341300_153341306del, NC_000006.11:g.153341301_153341306del, NC_000006.11:g.153341302_153341306del, NC_000006.11:g.153341303_153341306del, NC_000006.11:g.153341304_153341306del, NC_000006.11:g.153341305_153341306del, NC_000006.11:g.153341306del, NC_000006.11:g.153341306dup, NC_000006.11:g.153341305_153341306dup, NC_000006.11:g.153341304_153341306dup, NC_000006.11:g.153341303_153341306dup
2.
rs1491570127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:153122953
(GRCh38)
6:153444088
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153122951:AAA:A
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491568651 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 6:153025324
(GRCh38)
6:153346459
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153025323:AG:
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491554138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:153053925
(GRCh38)
6:153375060
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053923:TGT:T
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00179/109
(GnomAD)
-=0.00312/43
(TOMMO)
-=0.0119/7
(NorthernSweden)
- HGVS:
5.
rs1491540636 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATGTATA
[Show Flanks]
- Chromosome:
- 6:153020139
(GRCh38)
6:153341275
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153020139::A,NC_000006.12:153020139::ATA,NC_000006.12:153020139::ATATA,NC_000006.12:153020139::ATATATA,NC_000006.12:153020139::ATATATATA,NC_000006.12:153020139::ATATATATATA,NC_000006.12:153020139::ATATATATATATA,NC_000006.12:153020139::ATATATATATATATA,NC_000006.12:153020139::ATATATATATATATATA,NC_000006.12:153020139::ATATATATATATATATATA,NC_000006.12:153020139::ATATATATGTATA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.153020139_153020140insA, NC_000006.12:g.153020139_153020140insATA, NC_000006.12:g.153020139_153020140insATATA, NC_000006.12:g.153020139_153020140insATATATA, NC_000006.12:g.153020139_153020140insATATATATA, NC_000006.12:g.153020139_153020140insATATATATATA, NC_000006.12:g.153020139_153020140insATATATATATATA, NC_000006.12:g.153020139_153020140insATATATATATATATA, NC_000006.12:g.153020139_153020140insATATATATATATATATA, NC_000006.12:g.153020139_153020140insATATATATATATATATATA, NC_000006.12:g.153020139_153020140insATATATATGTATA, NC_000006.11:g.153341274_153341275insA, NC_000006.11:g.153341274_153341275insATA, NC_000006.11:g.153341274_153341275insATATA, NC_000006.11:g.153341274_153341275insATATATA, NC_000006.11:g.153341274_153341275insATATATATA, NC_000006.11:g.153341274_153341275insATATATATATA, NC_000006.11:g.153341274_153341275insATATATATATATA, NC_000006.11:g.153341274_153341275insATATATATATATATA, NC_000006.11:g.153341274_153341275insATATATATATATATATA, NC_000006.11:g.153341274_153341275insATATATATATATATATATA, NC_000006.11:g.153341274_153341275insATATATATGTATA
6.
rs1491519116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:153070811
(GRCh38)
6:153391947
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153070811:T:TT
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
7.
rs1491516817 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AATAC,AC,ATA,ATATAC,ATATATGTATATAATATATATACATATATAC,ATATATGTATATAATATATATACATATATACGTATATATGTATATAATATATATACATATATAC,ATATATGTATATATGATATATACATATATAC,ATATATGTATATATTATATATACATATATAC,ATATATGTATATATTATATATACATATATACGTATATATATATAATATATATACATATATAC,ATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC,ATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATAC,ATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC
[Show Flanks]
- Chromosome:
- 6:153053976
(GRCh38)
6:153375112
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053976::A,NC_000006.12:153053976::AATAC,NC_000006.12:153053976::AC,NC_000006.12:153053976::ATA,NC_000006.12:153053976::ATATAC,NC_000006.12:153053976::ATATATGTATATAATATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATAATATATATACATATATACGTATATATGTATATAATATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATGATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATTATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATTATATATACATATATACGTATATATATATAATATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATAC,NC_000006.12:153053976::ATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAC=0./0
(
ALFA)
ATATATGTATATATTATATATACATATATAC=0.01282/145
(TOMMO)
- HGVS:
NC_000006.12:g.153053976_153053977insA, NC_000006.12:g.153053976_153053977insAATAC, NC_000006.12:g.153053976_153053977insAC, NC_000006.12:g.153053976_153053977insATA, NC_000006.12:g.153053976_153053977insATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATAATATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATAATATATATACATATATACGTATATATGTATATAATATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATGATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATTATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATTATATATACATATATACGTATATATATATAATATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATAC, NC_000006.12:g.153053976_153053977insATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC, NC_000006.11:g.153375111_153375112insA, NC_000006.11:g.153375111_153375112insAATAC, NC_000006.11:g.153375111_153375112insAC, NC_000006.11:g.153375111_153375112insATA, NC_000006.11:g.153375111_153375112insATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATAATATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATAATATATATACATATATACGTATATATGTATATAATATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATGATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATTATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATTATATATACATATATACGTATATATATATAATATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATAC, NC_000006.11:g.153375111_153375112insATATATGTATATATTATATATACATATATACGTATATATGTATATATTATATATACATATATACGTATATATGTATATAATATATATACATATATAC
10.
rs1491485566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACACAA,CACACACAA
[Show Flanks]
- Chromosome:
- 6:153054044
(GRCh38)
6:153375180
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153054044:A:ACACACAA,NC_000006.12:153054044:A:ACACACACAA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
ACACACA=0.00004/1
(TOMMO)
- HGVS:
11.
rs1491434974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACA,CACACA
[Show Flanks]
- Chromosome:
- 6:153053926
(GRCh38)
6:153375062
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053926:A:ACACA,NC_000006.12:153053926:A:ACACACA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACA=0./0
(
ALFA)
ACACAC=0.00231/101
(GnomAD)
ACACAC=0.0042/52
(TOMMO)
ACACAC=0.01331/7
(NorthernSweden)
- HGVS:
12.
rs1491403899 has merged into rs202172532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 6:153053921
(GRCh38)
6:153375056
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053913:TATATATATAT:TATATAT,NC_000006.12:153053913:TATATATATAT:TATATATAT,NC_000006.12:153053913:TATATATATAT:TATATATATATAT,NC_000006.12:153053913:TATATATATAT:TATATATATATATAT
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATAT=0./0
(
ALFA)
TA=0.00021/3
(TOMMO)
- HGVS:
13.
rs1491400075 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTCTTTTTCACATACATAC
[Show Flanks]
- Chromosome:
- 6:153053914
(GRCh38)
6:153375050
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053914::TTCTTTTTCACATACATAC
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTTTTTCACATACATAC=0./0
(
ALFA)
- HGVS:
14.
rs1491389846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATATCAATATATATACA
[Show Flanks]
- Chromosome:
- 6:153071181
(GRCh38)
6:153392317
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153071181:TATATATATCAATATATATACA:TATATATATCAATATATATACAATATATATATCAATATATATACA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATCAATATATATACAATATATATATCAATATATATACA=0./0
(
ALFA)
TATATATATCAATATATATACAA=0.00005/7
(GnomAD)
- HGVS:
15.
rs1491376662 has merged into rs1446481010 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTATATA>-,TGTATATATGTATATA
[Show Flanks]
- Chromosome:
- 6:153054050
(GRCh38)
6:153375185
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153054035:TATATATGTATATATGTATATA:TATATATGTATATA,NC_000006.12:153054035:TATATATGTATATATGTATATA:TATATATGTATATATGTATATATGTATATA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATGTATATATGTATATATGTATATA=0./0
(
ALFA)
-=0.00011/6
(GnomAD)
- HGVS:
16.
rs1491361369 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:153122952
(GRCh38)
6:153444088
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153122952::C
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000222/31
(GnomAD)
- HGVS:
17.
rs1491347873 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TATATAC,TT
[Show Flanks]
- Chromosome:
- 6:153053943
(GRCh38)
6:153375079
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053943::T,NC_000006.12:153053943::TATATAC,NC_000006.12:153053943::TT
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
TT=0.0004/7
(TOMMO)
- HGVS:
18.
rs1491341530 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:153071192
(GRCh38)
6:153392327
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153071191:AA:
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
19.
rs1491327445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 6:153070706
(GRCh38)
6:153391841
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153070701:TATATA:TATA,NC_000006.12:153070701:TATATA:TATATATA
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
TA=0.00006/1
(TOMMO)
- HGVS:
20.
rs1491323297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:153053977
(GRCh38)
6:153375112
(GRCh37)
- Canonical SPDI:
- NC_000006.12:153053975:TGT:T
- Gene:
- RGS17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00607/72
(
ALFA)
-=0.00043/20
(GnomAD)
- HGVS: