SNP Links for Gene (Select 25766) - SNP

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Select item 14913849001.

rs1491384900 has merged into rs376648517 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 12:49633003 (GRCh38)
12:50026786 (GRCh37)
Canonical SPDI:: NC_000012.12:49632996:CCCCCCCCCCC:CCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000012.12:49632996:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCC=0./0 (ALFA)
-=0.001322/350 (TOPMED)
HGVS:: NC_000012.12:g.49633003_49633007del, NC_000012.12:g.49633006_49633007del, NC_000012.12:g.49633007del, NC_000012.12:g.49633007dup, NC_000012.12:g.49633006_49633007dup, NC_000012.12:g.49633004_49633007dup, NC_000012.12:g.49633003_49633007dup, NC_000012.12:g.49633002_49633007dup, NC_000012.12:g.49633000_49633007dup, NC_000012.12:g.49632999_49633007dup, NC_000012.12:g.49633007_49633008insCCCCCCCCCCCCCC, NC_000012.12:g.49633007_49633008insCCCCCCCCCCCCCCC, NC_000012.12:g.49633007_49633008insCCCCCCCCCCCCCCCCC, NC_000012.12:g.49633007_49633008insCCCCCCCCCCCCCCCCCC, NC_000012.11:g.50026786_50026790del, NC_000012.11:g.50026789_50026790del, NC_000012.11:g.50026790del, NC_000012.11:g.50026790dup, NC_000012.11:g.50026789_50026790dup, NC_000012.11:g.50026787_50026790dup, NC_000012.11:g.50026786_50026790dup, NC_000012.11:g.50026785_50026790dup, NC_000012.11:g.50026783_50026790dup, NC_000012.11:g.50026782_50026790dup, NC_000012.11:g.50026790_50026791insCCCCCCCCCCCCCC, NC_000012.11:g.50026790_50026791insCCCCCCCCCCCCCCC, NC_000012.11:g.50026790_50026791insCCCCCCCCCCCCCCCCC, NC_000012.11:g.50026790_50026791insCCCCCCCCCCCCCCCCCC, NG_032901.2:g.69786_69790del, NG_032901.2:g.69789_69790del, NG_032901.2:g.69790del, NG_032901.2:g.69790dup, NG_032901.2:g.69789_69790dup, NG_032901.2:g.69787_69790dup, NG_032901.2:g.69786_69790dup, NG_032901.2:g.69785_69790dup, NG_032901.2:g.69783_69790dup, NG_032901.2:g.69782_69790dup, NG_032901.2:g.69790_69791insCCCCCCCCCCCCCC, NG_032901.2:g.69790_69791insCCCCCCCCCCCCCCC, NG_032901.2:g.69790_69791insCCCCCCCCCCCCCCCCC, NG_032901.2:g.69790_69791insCCCCCCCCCCCCCCCCCC

Select item 14910485442.

rs1491048544 has merged into rs76184248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 12:49623063 (GRCh38)
12:50016846 (GRCh37)
Canonical SPDI:: NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:49623053:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: PRPF40B (Varview), FAM186B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.49623063_49623070del, NC_000012.12:g.49623064_49623070del, NC_000012.12:g.49623065_49623070del, NC_000012.12:g.49623066_49623070del, NC_000012.12:g.49623067_49623070del, NC_000012.12:g.49623068_49623070del, NC_000012.12:g.49623069_49623070del, NC_000012.12:g.49623070del, NC_000012.12:g.49623070dup, NC_000012.12:g.49623069_49623070dup, NC_000012.12:g.49623068_49623070dup, NC_000012.11:g.50016846_50016853del, NC_000012.11:g.50016847_50016853del, NC_000012.11:g.50016848_50016853del, NC_000012.11:g.50016849_50016853del, NC_000012.11:g.50016850_50016853del, NC_000012.11:g.50016851_50016853del, NC_000012.11:g.50016852_50016853del, NC_000012.11:g.50016853del, NC_000012.11:g.50016853dup, NC_000012.11:g.50016852_50016853dup, NC_000012.11:g.50016851_50016853dup, NG_032901.2:g.59846_59853del, NG_032901.2:g.59847_59853del, NG_032901.2:g.59848_59853del, NG_032901.2:g.59849_59853del, NG_032901.2:g.59850_59853del, NG_032901.2:g.59851_59853del, NG_032901.2:g.59852_59853del, NG_032901.2:g.59853del, NG_032901.2:g.59853dup, NG_032901.2:g.59852_59853dup, NG_032901.2:g.59851_59853dup

Select item 14909756123.

rs1490975612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49630331 (GRCh38)
12:50024114 (GRCh37)
Canonical SPDI:: NC_000012.12:49630330:G:A
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49630331G>A, NC_000012.11:g.50024114G>A, NG_032901.2:g.67114G>A

Select item 14907974084.

rs1490797408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:49640021 (GRCh38)
12:50033804 (GRCh37)
Canonical SPDI:: NC_000012.12:49640020:C:A,NC_000012.12:49640020:C:G
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.49640021C>A, NC_000012.12:g.49640021C>G, NC_000012.11:g.50033804C>A, NC_000012.11:g.50033804C>G, NG_032901.2:g.76804C>A, NG_032901.2:g.76804C>G, NM_175736.5:c.*5794G>T, NM_175736.5:c.*5794G>C, NM_175736.4:c.*5794G>T, NM_175736.4:c.*5794G>C, NM_198900.3:c.*5794G>T, NM_198900.3:c.*5794G>C, NM_198900.2:c.*5794G>T, NM_198900.2:c.*5794G>C, NM_001367835.1:c.*5906G>T, NM_001367835.1:c.*5906G>C

Select item 14906328425.

rs1490632842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49640475 (GRCh38)
12:50034258 (GRCh37)
Canonical SPDI:: NC_000012.12:49640474:C:T
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49640475C>T, NC_000012.11:g.50034258C>T, NG_032901.2:g.77258C>T, NM_175736.5:c.*5340G>A, NM_175736.4:c.*5340G>A, NM_198900.3:c.*5340G>A, NM_198900.2:c.*5340G>A, NM_001367835.1:c.*5452G>A

Select item 14905833886.

rs1490583388 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:49639418 (GRCh38)
12:50033201 (GRCh37)
Canonical SPDI:: NC_000012.12:49639415:AAAA:AA
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49639418_49639419del, NC_000012.11:g.50033201_50033202del, NG_032901.2:g.76201_76202del, NM_175736.5:c.*6398_*6399del, NM_175736.4:c.*6398_*6399del, NM_198900.3:c.*6398_*6399del, NM_198900.2:c.*6398_*6399del, NM_001367835.1:c.*6510_*6511del

Select item 14905536487.

rs1490553648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49622192 (GRCh38)
12:50015975 (GRCh37)
Canonical SPDI:: NC_000012.12:49622191:T:C
Gene:: PRPF40B (Varview), FAM186B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49622192T>C, NC_000012.11:g.50015975T>C, NG_032901.2:g.58975T>C

Select item 14902542418.

rs1490254241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:49638395 (GRCh38)
12:50032178 (GRCh37)
Canonical SPDI:: NC_000012.12:49638394:C:G
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49638395C>G, NC_000012.11:g.50032178C>G, NG_032901.2:g.75178C>G, NM_175736.5:c.*7420G>C, NM_175736.4:c.*7420G>C, NM_198900.3:c.*7420G>C, NM_198900.2:c.*7420G>C, NM_001367835.1:c.*7532G>C

Select item 14901911989.

rs1490191198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49621230 (GRCh38)
12:50015013 (GRCh37)
Canonical SPDI:: NC_000012.12:49621229:A:G
Gene:: PRPF40B (Varview), FAM186B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49621230A>G, NC_000012.11:g.50015013A>G, NG_032901.2:g.58013A>G

Select item 148985884610.

rs1489858846 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:49631055 (GRCh38)
12:50024838 (GRCh37)
Canonical SPDI:: NC_000012.12:49631054:G:
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49631055del, NC_000012.11:g.50024838del, NG_032901.2:g.67838del

Select item 148979856211.

rs1489798562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49638145 (GRCh38)
12:50031928 (GRCh37)
Canonical SPDI:: NC_000012.12:49638144:G:A
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49638145G>A, NC_000012.11:g.50031928G>A, NG_032901.2:g.74928G>A, NM_175736.5:c.*7670C>T, NM_175736.4:c.*7670C>T, NM_198900.3:c.*7670C>T, NM_198900.2:c.*7670C>T, NM_001367835.1:c.*7782C>T

Select item 148969808312.

rs1489698083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49635651 (GRCh38)
12:50029434 (GRCh37)
Canonical SPDI:: NC_000012.12:49635650:T:C
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49635651T>C, NC_000012.11:g.50029434T>C, NG_032901.2:g.72434T>C

Select item 148956859313.

rs1489568593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:49642362 (GRCh38)
12:50036145 (GRCh37)
Canonical SPDI:: NC_000012.12:49642361:C:A
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49642362C>A, NC_000012.11:g.50036145C>A, NG_032901.2:g.79145C>A, NM_012272.3:c.1907C>A, NM_012272.2:c.1907C>A, NM_012272.1:c.1907C>A, NM_001031698.3:c.2012C>A, NM_001031698.2:c.2012C>A, NM_001363607.2:c.2012C>A, NM_001363607.1:c.1946C>A, NM_001379030.1:c.1982C>A, NM_001379031.1:c.1931C>A, NM_001379032.1:c.1931C>A, NM_001379033.1:c.1901C>A, NM_001379034.1:c.1901C>A, NM_001379035.1:c.1820C>A, NM_001379036.1:c.1820C>A, NM_001379037.1:c.1655C>A, NM_175736.5:c.*3453G>T, NM_175736.4:c.*3453G>T, XM_006719324.5:c.2198C>A, XM_006719324.4:c.2198C>A, XM_006719324.3:c.2198C>A, XM_006719324.2:c.2198C>A, XM_006719324.1:c.2198C>A, XM_006719325.5:c.2198C>A, XM_006719325.4:c.2198C>A, XM_006719325.3:c.2198C>A, XM_006719325.2:c.2198C>A, XM_006719325.1:c.2198C>A, XM_011538139.4:c.2012C>A, XM_011538139.3:c.2012C>A, XM_011538139.2:c.2012C>A, XM_011538139.1:c.2012C>A, XM_011538140.4:c.2012C>A, XM_011538140.3:c.2012C>A, XM_011538140.2:c.2012C>A, XM_011538140.1:c.2012C>A, XM_011538143.4:c.1931C>A, XM_011538143.3:c.1931C>A, XM_011538143.2:c.1931C>A, XM_011538143.1:c.1931C>A, NM_198900.3:c.*3453G>T, NM_198900.2:c.*3453G>T, XM_017019135.3:c.1928C>A, XM_017019135.2:c.1928C>A, XM_017019135.1:c.1928C>A, XM_017019138.2:c.2198C>A, XM_017019138.1:c.2198C>A, NM_001367835.1:c.*3565G>T, NR_052006.1:n.2458C>A, XM_047428674.1:c.2036C>A, XM_047428676.1:c.2036C>A, XM_047428677.1:c.1931C>A, XM_047428675.1:c.2036C>A, XM_047428678.1:c.1928C>A, NP_036404.1:p.Ala636Asp, NP_001026868.2:p.Ala671Asp, NP_001350536.2:p.Ala671Asp, NP_001365959.1:p.Ala661Asp, NP_001365960.1:p.Ala644Asp, NP_001365961.1:p.Ala644Asp, NP_001365962.1:p.Ala634Asp, NP_001365963.1:p.Ala634Asp, NP_001365964.1:p.Ala607Asp, NP_001365965.1:p.Ala607Asp, NP_001365966.1:p.Ala552Asp, XP_006719387.1:p.Ala733Asp, XP_006719388.1:p.Ala733Asp, XP_011536441.1:p.Ala671Asp, XP_011536442.1:p.Ala671Asp, XP_011536445.1:p.Ala644Asp, XP_016874624.1:p.Ala643Asp, XP_016874627.1:p.Ala733Asp, XP_047284630.1:p.Ala679Asp, XP_047284632.1:p.Ala679Asp, XP_047284633.1:p.Ala644Asp, XP_047284631.1:p.Ala679Asp, XP_047284634.1:p.Ala643Asp

Select item 148940743614.

rs1489407436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:49624682 (GRCh38)
12:50018465 (GRCh37)
Canonical SPDI:: NC_000012.12:49624681:T:G
Gene:: PRPF40B (Varview), FAM186B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49624682T>G, NC_000012.11:g.50018465T>G, NG_032901.2:g.61465T>G

Select item 148940169215.

rs1489401692 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACT>- [Show Flanks]
Chromosome:: 12:49629211 (GRCh38)
12:50022994 (GRCh37)
Canonical SPDI:: NC_000012.12:49629208:CTGACT:CT
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.49629211_49629214del, NC_000012.11:g.50022994_50022997del, NG_032901.2:g.65994_65997del

Select item 148935602216.

rs1489356022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49632162 (GRCh38)
12:50025945 (GRCh37)
Canonical SPDI:: NC_000012.12:49632161:C:T
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.49632162C>T, NC_000012.11:g.50025945C>T, NG_032901.2:g.68945C>T

Select item 148909156217.

rs1489091562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49624697 (GRCh38)
12:50018480 (GRCh37)
Canonical SPDI:: NC_000012.12:49624696:A:G
Gene:: PRPF40B (Varview), FAM186B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.49624697A>G, NC_000012.11:g.50018480A>G, NG_032901.2:g.61480A>G

Select item 148869330718.

rs1488693307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49632848 (GRCh38)
12:50026631 (GRCh37)
Canonical SPDI:: NC_000012.12:49632847:T:C
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49632848T>C, NC_000012.11:g.50026631T>C, NG_032901.2:g.69631T>C

Select item 148846666119.

rs1488466661 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:49641794 (GRCh38)
12:50035577 (GRCh37)
Canonical SPDI:: NC_000012.12:49641793:GG:G
Gene:: PRPF40B (Varview), FMNL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.49641795del, NC_000012.11:g.50035578del, NG_032901.2:g.78578del, NM_175736.5:c.*4021del, NM_175736.4:c.*4021del, NM_198900.3:c.*4021del, NM_198900.2:c.*4021del, NM_001367835.1:c.*4133del

Select item 148841905620.

rs1488419056 has merged into rs373955283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 12:49628240 (GRCh38)
12:50022024 (GRCh37)
Canonical SPDI:: NC_000012.12:49628240:GAAG:GAAGAAG
Gene:: PRPF40B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGAAG=0./0 (ALFA)
GAA=0.000143/20 (GnomAD)
GAA=0.000147/39 (TOPMED)
HGVS:: NC_000012.12:g.49628242_49628244dup, NC_000012.11:g.50022025_50022027dup, NG_032901.2:g.65025_65027dup

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