SNP Links for Gene (Select 54443) - SNP

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Select item 14915453541.

rs1491545354 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:36431560 (GRCh38)
7:36471170 (GRCh37)
Canonical SPDI:: NC_000007.14:36431560::G
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00145/24 (TOMMO)
G=0.00166/3 (Korea1K)
G=0.00184/108 (GnomAD)
HGVS:: NC_000007.14:g.36431560_36431561insG, NC_000007.13:g.36471169_36471170insG, NG_041770.1:g.46758_46759insG

Select item 14915091542.

rs1491509154 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:36425584 (GRCh38)
7:36465193 (GRCh37)
Canonical SPDI:: NC_000007.14:36425583:GC:
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.256491/1146 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.229024/32051 (GnomAD)
-=0.255/153 (NorthernSweden)
-=0.255918/1146 (Estonian)
-=0.26827/1718 (1000Genomes)
-=0.39833/6675 (TOMMO)
-=0.418122/766 (Korea1K)
HGVS:: NC_000007.14:g.36425584_36425585del, NC_000007.13:g.36465193_36465194del, NG_041770.1:g.40782_40783del

Select item 14914315693.

rs1491431569 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:36394651 (GRCh38)
7:36434260 (GRCh37)
Canonical SPDI:: NC_000007.14:36394647:GTGTG:GTG
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36394649TG[1], NC_000007.13:g.36434258TG[1], NG_041770.1:g.9847TG[1]

Select item 14914010144.

rs1491401014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATTT,ATATATATT,ATATATATTT,ATATATT,ATATATTT,ATATATTTT,ATATATTTTTTT,ATATT,ATATTT,ATATTTT,ATATTTTT,ATT,ATTT,ATTTT,ATTTTT [Show Flanks]
Chromosome:: 7:36412327 (GRCh38)
7:36451937 (GRCh37)
Canonical SPDI:: NC_000007.14:36412327:T:TATATATATATTT,NC_000007.14:36412327:T:TATATATATT,NC_000007.14:36412327:T:TATATATATTT,NC_000007.14:36412327:T:TATATATT,NC_000007.14:36412327:T:TATATATTT,NC_000007.14:36412327:T:TATATATTTT,NC_000007.14:36412327:T:TATATATTTTTTT,NC_000007.14:36412327:T:TATATT,NC_000007.14:36412327:T:TATATTT,NC_000007.14:36412327:T:TATATTTT,NC_000007.14:36412327:T:TATATTTTT,NC_000007.14:36412327:T:TATT,NC_000007.14:36412327:T:TATTT,NC_000007.14:36412327:T:TATTTT,NC_000007.14:36412327:T:TATTTTT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATT=0./0 (ALFA)
HGVS:: NC_000007.14:g.36412328TA[5]TTT[1], NC_000007.14:g.36412328TA[4]TT[1], NC_000007.14:g.36412328TA[4]TTT[1], NC_000007.14:g.36412328TA[3]TT[1], NC_000007.14:g.36412328TA[3]TTT[1], NC_000007.14:g.36412328TA[3]T[4], NC_000007.14:g.36412328TA[3]T[7], NC_000007.14:g.36412328TA[2]TT[1], NC_000007.14:g.36412328TA[2]TTT[1], NC_000007.14:g.36412328TA[2]T[4], NC_000007.14:g.36412328TA[2]T[5], NC_000007.14:g.36412328_36412329insATT, NC_000007.14:g.36412328_36412329insATTT, NC_000007.14:g.36412328_36412329insATTTT, NC_000007.14:g.36412328_36412329insATTTTT, NC_000007.13:g.36451937TA[5]TTT[1], NC_000007.13:g.36451937TA[4]TT[1], NC_000007.13:g.36451937TA[4]TTT[1], NC_000007.13:g.36451937TA[3]TT[1], NC_000007.13:g.36451937TA[3]TTT[1], NC_000007.13:g.36451937TA[3]T[4], NC_000007.13:g.36451937TA[3]T[7], NC_000007.13:g.36451937TA[2]TT[1], NC_000007.13:g.36451937TA[2]TTT[1], NC_000007.13:g.36451937TA[2]T[4], NC_000007.13:g.36451937TA[2]T[5], NC_000007.13:g.36451937_36451938insATT, NC_000007.13:g.36451937_36451938insATTT, NC_000007.13:g.36451937_36451938insATTTT, NC_000007.13:g.36451937_36451938insATTTTT, NG_041770.1:g.27526TA[5]TTT[1], NG_041770.1:g.27526TA[4]TT[1], NG_041770.1:g.27526TA[4]TTT[1], NG_041770.1:g.27526TA[3]TT[1], NG_041770.1:g.27526TA[3]TTT[1], NG_041770.1:g.27526TA[3]T[4], NG_041770.1:g.27526TA[3]T[7], NG_041770.1:g.27526TA[2]TT[1], NG_041770.1:g.27526TA[2]TTT[1], NG_041770.1:g.27526TA[2]T[4], NG_041770.1:g.27526TA[2]T[5], NG_041770.1:g.27526_27527insATT, NG_041770.1:g.27526_27527insATTT, NG_041770.1:g.27526_27527insATTTT, NG_041770.1:g.27526_27527insATTTTT

Select item 14913142125.

rs1491314212 has merged into rs35428425 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:36428788 (GRCh38)
7:36468397 (GRCh37)
Canonical SPDI:: NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36428776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.22863/1145 (1000Genomes)
-=0.44447/1713 (ALSPAC)
-=0.45928/1703 (TWINSUK)
HGVS:: NC_000007.14:g.36428788_36428796del, NC_000007.14:g.36428790_36428796del, NC_000007.14:g.36428792_36428796del, NC_000007.14:g.36428793_36428796del, NC_000007.14:g.36428794_36428796del, NC_000007.14:g.36428795_36428796del, NC_000007.14:g.36428796del, NC_000007.14:g.36428796dup, NC_000007.14:g.36428795_36428796dup, NC_000007.14:g.36428794_36428796dup, NC_000007.14:g.36428793_36428796dup, NC_000007.14:g.36428792_36428796dup, NC_000007.14:g.36428791_36428796dup, NC_000007.13:g.36468397_36468405del, NC_000007.13:g.36468399_36468405del, NC_000007.13:g.36468401_36468405del, NC_000007.13:g.36468402_36468405del, NC_000007.13:g.36468403_36468405del, NC_000007.13:g.36468404_36468405del, NC_000007.13:g.36468405del, NC_000007.13:g.36468405dup, NC_000007.13:g.36468404_36468405dup, NC_000007.13:g.36468403_36468405dup, NC_000007.13:g.36468402_36468405dup, NC_000007.13:g.36468401_36468405dup, NC_000007.13:g.36468400_36468405dup, NG_041770.1:g.43986_43994del, NG_041770.1:g.43988_43994del, NG_041770.1:g.43990_43994del, NG_041770.1:g.43991_43994del, NG_041770.1:g.43992_43994del, NG_041770.1:g.43993_43994del, NG_041770.1:g.43994del, NG_041770.1:g.43994dup, NG_041770.1:g.43993_43994dup, NG_041770.1:g.43992_43994dup, NG_041770.1:g.43991_43994dup, NG_041770.1:g.43990_43994dup, NG_041770.1:g.43989_43994dup

Select item 14912910326.

rs1491291032 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>ATTAAT [Show Flanks]
Chromosome:: 7:36425584 (GRCh38)
7:36465193 (GRCh37)
Canonical SPDI:: NC_000007.14:36425583:GC:ATTAAT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.36425584_36425585delinsATTAAT, NC_000007.13:g.36465193_36465194delinsATTAAT, NG_041770.1:g.40782_40783delinsATTAAT

Select item 14912154617.

rs1491215461 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAGCAGA [Show Flanks]
Chromosome:: 7:36428777 (GRCh38)
7:36468387 (GRCh37)
Canonical SPDI:: NC_000007.14:36428777::AAAAGCAGA
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AAAAGCAGA=0.06719/903 (TOMMO)
AAAAGCAGA=0.09792/151 (Korea1K)
AAAAGCAGA=0.22368/11792 (GnomAD)
HGVS:: NC_000007.14:g.36428777_36428778insAAAAGCAGA, NC_000007.13:g.36468386_36468387insAAAAGCAGA, NG_041770.1:g.43975_43976insAAAAGCAGA

Select item 14912113888.

rs1491211388 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCTCACGCC [Show Flanks]
Chromosome:: 7:36394648 (GRCh38)
7:36434258 (GRCh37)
Canonical SPDI:: NC_000007.14:36394648::GCTCACGCC
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GCTCACGCC=0.00248/42 (TOMMO)
GCTCACGCC=0.00273/5 (Korea1K)
HGVS:: NC_000007.14:g.36394648_36394649insGCTCACGCC, NC_000007.13:g.36434257_36434258insGCTCACGCC, NG_041770.1:g.9846_9847insGCTCACGCC

Select item 14911616399.

rs1491161639 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:36445188 (GRCh38)
7:36484797 (GRCh37)
Canonical SPDI:: NC_000007.14:36445187:TC:
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00043/7 (TOMMO)
HGVS:: NC_000007.14:g.36445188_36445189del, NC_000007.13:g.36484797_36484798del, NG_041770.1:g.60386_60387del

Select item 149111866710.

rs1491118667 has merged into rs1554343030 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:36412338 (GRCh38)
7:36451947 (GRCh37)
Canonical SPDI:: NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36412327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.36412338_36412345del, NC_000007.14:g.36412339_36412345del, NC_000007.14:g.36412340_36412345del, NC_000007.14:g.36412341_36412345del, NC_000007.14:g.36412342_36412345del, NC_000007.14:g.36412343_36412345del, NC_000007.14:g.36412344_36412345del, NC_000007.14:g.36412345del, NC_000007.14:g.36412345dup, NC_000007.14:g.36412344_36412345dup, NC_000007.14:g.36412343_36412345dup, NC_000007.14:g.36412342_36412345dup, NC_000007.14:g.36412340_36412345dup, NC_000007.13:g.36451947_36451954del, NC_000007.13:g.36451948_36451954del, NC_000007.13:g.36451949_36451954del, NC_000007.13:g.36451950_36451954del, NC_000007.13:g.36451951_36451954del, NC_000007.13:g.36451952_36451954del, NC_000007.13:g.36451953_36451954del, NC_000007.13:g.36451954del, NC_000007.13:g.36451954dup, NC_000007.13:g.36451953_36451954dup, NC_000007.13:g.36451952_36451954dup, NC_000007.13:g.36451951_36451954dup, NC_000007.13:g.36451949_36451954dup, NG_041770.1:g.27536_27543del, NG_041770.1:g.27537_27543del, NG_041770.1:g.27538_27543del, NG_041770.1:g.27539_27543del, NG_041770.1:g.27540_27543del, NG_041770.1:g.27541_27543del, NG_041770.1:g.27542_27543del, NG_041770.1:g.27543del, NG_041770.1:g.27543dup, NG_041770.1:g.27542_27543dup, NG_041770.1:g.27541_27543dup, NG_041770.1:g.27540_27543dup, NG_041770.1:g.27538_27543dup

Select item 149106256511.

rs1491062565 has merged into rs997202237 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA [Show Flanks]
Chromosome:: 7:36417009 (GRCh38)
7:36456618 (GRCh37)
Canonical SPDI:: NC_000007.14:36417003:ACACACACA:ACACA,NC_000007.14:36417003:ACACACACA:ACACACA
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0.00092/17 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00109/2 (Korea1K)
-=0.00335/15 (Estonian)
HGVS:: NC_000007.14:g.36417005CA[2], NC_000007.14:g.36417005CA[3], NC_000007.13:g.36456614CA[2], NC_000007.13:g.36456614CA[3], NG_041770.1:g.32203CA[2], NG_041770.1:g.32203CA[3]

Select item 149104726412.

rs1491047264 has merged into rs70977145 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:36445173 (GRCh38)
7:36484782 (GRCh37)
Canonical SPDI:: NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36445161:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.4363/2185 (1000Genomes)
HGVS:: NC_000007.14:g.36445173_36445188del, NC_000007.14:g.36445174_36445188del, NC_000007.14:g.36445175_36445188del, NC_000007.14:g.36445176_36445188del, NC_000007.14:g.36445177_36445188del, NC_000007.14:g.36445178_36445188del, NC_000007.14:g.36445179_36445188del, NC_000007.14:g.36445180_36445188del, NC_000007.14:g.36445181_36445188del, NC_000007.14:g.36445182_36445188del, NC_000007.14:g.36445183_36445188del, NC_000007.14:g.36445184_36445188del, NC_000007.14:g.36445185_36445188del, NC_000007.14:g.36445186_36445188del, NC_000007.14:g.36445187_36445188del, NC_000007.14:g.36445188del, NC_000007.14:g.36445188dup, NC_000007.14:g.36445162_36445188T[28]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445187_36445188dup, NC_000007.14:g.36445162_36445188T[29]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445162_36445188T[29]GTTTTT[2]T[29], NC_000007.14:g.36445162_36445188T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445186_36445188dup, NC_000007.14:g.36445162_36445188T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445162_36445188T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445185_36445188dup, NC_000007.14:g.36445162_36445188T[31]GTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445184_36445188dup, NC_000007.14:g.36445162_36445188T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445162_36445188T[32]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445183_36445188dup, NC_000007.14:g.36445182_36445188dup, NC_000007.14:g.36445162_36445188T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445181_36445188dup, NC_000007.14:g.36445180_36445188dup, NC_000007.14:g.36445162_36445188T[37]GAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445162_36445188T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445162_36445188T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445178_36445188dup, NC_000007.14:g.36445177_36445188dup, NC_000007.14:g.36445176_36445188dup, NC_000007.14:g.36445162_36445188T[40]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.36445175_36445188dup, NC_000007.14:g.36445174_36445188dup, NC_000007.14:g.36445172_36445188dup, NC_000007.14:g.36445171_36445188dup, NC_000007.14:g.36445170_36445188dup, NC_000007.14:g.36445169_36445188dup, NC_000007.14:g.36445167_36445188dup, NC_000007.14:g.36445164_36445188dup, NC_000007.14:g.36445163_36445188dup, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.36445188_36445189insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484782_36484797del, NC_000007.13:g.36484783_36484797del, NC_000007.13:g.36484784_36484797del, NC_000007.13:g.36484785_36484797del, NC_000007.13:g.36484786_36484797del, NC_000007.13:g.36484787_36484797del, NC_000007.13:g.36484788_36484797del, NC_000007.13:g.36484789_36484797del, NC_000007.13:g.36484790_36484797del, NC_000007.13:g.36484791_36484797del, NC_000007.13:g.36484792_36484797del, NC_000007.13:g.36484793_36484797del, NC_000007.13:g.36484794_36484797del, NC_000007.13:g.36484795_36484797del, NC_000007.13:g.36484796_36484797del, NC_000007.13:g.36484797del, NC_000007.13:g.36484797dup, NC_000007.13:g.36484771_36484797T[28]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484796_36484797dup, NC_000007.13:g.36484771_36484797T[29]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484771_36484797T[29]GTTTTT[2]T[29], NC_000007.13:g.36484771_36484797T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484795_36484797dup, NC_000007.13:g.36484771_36484797T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484771_36484797T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484794_36484797dup, NC_000007.13:g.36484771_36484797T[31]GTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484793_36484797dup, NC_000007.13:g.36484771_36484797T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484771_36484797T[32]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484792_36484797dup, NC_000007.13:g.36484791_36484797dup, NC_000007.13:g.36484771_36484797T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484790_36484797dup, NC_000007.13:g.36484789_36484797dup, NC_000007.13:g.36484771_36484797T[37]GAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484771_36484797T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484771_36484797T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484787_36484797dup, NC_000007.13:g.36484786_36484797dup, NC_000007.13:g.36484785_36484797dup, NC_000007.13:g.36484771_36484797T[40]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.36484784_36484797dup, NC_000007.13:g.36484783_36484797dup, NC_000007.13:g.36484781_36484797dup, NC_000007.13:g.36484780_36484797dup, NC_000007.13:g.36484779_36484797dup, NC_000007.13:g.36484778_36484797dup, NC_000007.13:g.36484776_36484797dup, NC_000007.13:g.36484773_36484797dup, NC_000007.13:g.36484772_36484797dup, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.36484797_36484798insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60371_60386del, NG_041770.1:g.60372_60386del, NG_041770.1:g.60373_60386del, NG_041770.1:g.60374_60386del, NG_041770.1:g.60375_60386del, NG_041770.1:g.60376_60386del, NG_041770.1:g.60377_60386del, NG_041770.1:g.60378_60386del, NG_041770.1:g.60379_60386del, NG_041770.1:g.60380_60386del, NG_041770.1:g.60381_60386del, NG_041770.1:g.60382_60386del, NG_041770.1:g.60383_60386del, NG_041770.1:g.60384_60386del, NG_041770.1:g.60385_60386del, NG_041770.1:g.60386del, NG_041770.1:g.60386dup, NG_041770.1:g.60360_60386T[28]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60385_60386dup, NG_041770.1:g.60360_60386T[29]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60360_60386T[29]GTTTTT[2]T[29], NG_041770.1:g.60360_60386T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60384_60386dup, NG_041770.1:g.60360_60386T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60360_60386T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60383_60386dup, NG_041770.1:g.60360_60386T[31]GTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60382_60386dup, NG_041770.1:g.60360_60386T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60360_60386T[32]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60381_60386dup, NG_041770.1:g.60380_60386dup, NG_041770.1:g.60360_60386T[34]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60379_60386dup, NG_041770.1:g.60378_60386dup, NG_041770.1:g.60360_60386T[37]GAATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60360_60386T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60360_60386T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60376_60386dup, NG_041770.1:g.60375_60386dup, NG_041770.1:g.60374_60386dup, NG_041770.1:g.60360_60386T[40]GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041770.1:g.60373_60386dup, NG_041770.1:g.60372_60386dup, NG_041770.1:g.60370_60386dup, NG_041770.1:g.60369_60386dup, NG_041770.1:g.60368_60386dup, NG_041770.1:g.60367_60386dup, NG_041770.1:g.60365_60386dup, NG_041770.1:g.60362_60386dup, NG_041770.1:g.60361_60386dup, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041770.1:g.60386_60387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149102896013.

rs1491028960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 7:36422306 (GRCh38)
7:36461916 (GRCh37)
Canonical SPDI:: NC_000007.14:36422306:CCC:CCCCC
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CC=0.000004/1 (TOPMED)
CC=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.36422308_36422309dup, NC_000007.13:g.36461917_36461918dup, NG_041770.1:g.37506_37507dup

Select item 149089423314.

rs1490894233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:36389849 (GRCh38)
7:36429458 (GRCh37)
Canonical SPDI:: NC_000007.14:36389848:G:A,NC_000007.14:36389848:G:C
Gene:: KIAA0895 (Varview), ANLN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.36389849G>A, NC_000007.14:g.36389849G>C, NC_000007.13:g.36429458G>A, NC_000007.13:g.36429458G>C, NG_041770.1:g.5047G>A, NG_041770.1:g.5047G>C, NM_018685.4:c.-178G>A, NM_018685.4:c.-178G>C, NM_018685.3:c.-178G>A, NM_018685.3:c.-178G>C, NM_018685.2:c.-178G>A, NM_018685.2:c.-178G>C, NM_001284301.2:c.-178G>A, NM_001284301.2:c.-178G>C, NM_001284302.2:c.-178G>A, NM_001284302.2:c.-178G>C, NM_001284301.1:c.-178G>A, NM_001284301.1:c.-178G>C, NM_001284302.1:c.-178G>A, NM_001284302.1:c.-178G>C

Select item 149087523415.

rs1490875234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:36417672 (GRCh38)
7:36457281 (GRCh37)
Canonical SPDI:: NC_000007.14:36417671:T:C
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.36417672T>C, NC_000007.13:g.36457281T>C, NG_041770.1:g.32870T>C

Select item 149085769016.

rs1490857690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:36400995 (GRCh38)
7:36440604 (GRCh37)
Canonical SPDI:: NC_000007.14:36400994:G:A
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36400995G>A, NC_000007.13:g.36440604G>A, NG_041770.1:g.16193G>A

Select item 149084903217.

rs1490849032 has merged into rs572615037 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:36402127 (GRCh38)
7:36441736 (GRCh37)
Canonical SPDI:: NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:36402112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2674/1339 (1000Genomes)
T=0.4706/16 (GENOME_DK)
HGVS:: NC_000007.14:g.36402127_36402129del, NC_000007.14:g.36402128_36402129del, NC_000007.14:g.36402129del, NC_000007.14:g.36402129dup, NC_000007.14:g.36402128_36402129dup, NC_000007.14:g.36402127_36402129dup, NC_000007.14:g.36402126_36402129dup, NC_000007.14:g.36402120_36402129dup, NC_000007.13:g.36441736_36441738del, NC_000007.13:g.36441737_36441738del, NC_000007.13:g.36441738del, NC_000007.13:g.36441738dup, NC_000007.13:g.36441737_36441738dup, NC_000007.13:g.36441736_36441738dup, NC_000007.13:g.36441735_36441738dup, NC_000007.13:g.36441729_36441738dup, NG_041770.1:g.17325_17327del, NG_041770.1:g.17326_17327del, NG_041770.1:g.17327del, NG_041770.1:g.17327dup, NG_041770.1:g.17326_17327dup, NG_041770.1:g.17325_17327dup, NG_041770.1:g.17324_17327dup, NG_041770.1:g.17318_17327dup

Select item 149080136418.

rs1490801364 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:36435391 (GRCh38)
7:36475001 (GRCh37)
Canonical SPDI:: NC_000007.14:36435391::A
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36435391_36435392insA, NC_000007.13:g.36475000_36475001insA, NG_041770.1:g.50589_50590insA

Select item 149079583819.

rs1490795838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:36405761 (GRCh38)
7:36445370 (GRCh37)
Canonical SPDI:: NC_000007.14:36405760:C:T
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.36405761C>T, NC_000007.13:g.36445370C>T, NG_041770.1:g.20959C>T

Select item 149076304720.

rs1490763047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:36418553 (GRCh38)
7:36458162 (GRCh37)
Canonical SPDI:: NC_000007.14:36418552:A:G
Gene:: ANLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.36418553A>G, NC_000007.13:g.36458162A>G, NG_041770.1:g.33751A>G

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