SNP Links for Gene (Select 729852) - SNP

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Select item 14915794191.

rs1491579419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:7860789 (GRCh38)
7:7900420 (GRCh37)
Canonical SPDI:: NC_000007.14:7860787:ATA:A
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00052/20 (GnomAD)
-=0.00273/5 (Korea1K)
HGVS:: NC_000007.14:g.7860789_7860790del, NC_000007.13:g.7900420_7900421del

Select item 14915747702.

rs1491574770 has merged into rs112036833 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 7:7827133 (GRCh38)
7:7866764 (GRCh37)
Canonical SPDI:: NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000007.14:7827122:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.7827123AT[5], NC_000007.14:g.7827123AT[6], NC_000007.14:g.7827123AT[7], NC_000007.14:g.7827123AT[8], NC_000007.14:g.7827123AT[9], NC_000007.14:g.7827123AT[10], NC_000007.14:g.7827123AT[11], NC_000007.14:g.7827123AT[12], NC_000007.14:g.7827123AT[14], NC_000007.14:g.7827123AT[15], NC_000007.14:g.7827123AT[16], NC_000007.14:g.7827123AT[17], NC_000007.14:g.7827123AT[18], NC_000007.13:g.7866754AT[5], NC_000007.13:g.7866754AT[6], NC_000007.13:g.7866754AT[7], NC_000007.13:g.7866754AT[8], NC_000007.13:g.7866754AT[9], NC_000007.13:g.7866754AT[10], NC_000007.13:g.7866754AT[11], NC_000007.13:g.7866754AT[12], NC_000007.13:g.7866754AT[14], NC_000007.13:g.7866754AT[15], NC_000007.13:g.7866754AT[16], NC_000007.13:g.7866754AT[17], NC_000007.13:g.7866754AT[18]

Select item 14915679493.

rs1491567949 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:7782735 (GRCh38)
7:7822367 (GRCh37)
Canonical SPDI:: NC_000007.14:7782735::C
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00135/16 (ALFA)
C=0.00238/190 (GnomAD)
HGVS:: NC_000007.14:g.7782735_7782736insC, NC_000007.13:g.7822366_7822367insC

Select item 14915670534.

rs1491567053 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:7832929 (GRCh38)
7:7872560 (GRCh37)
Canonical SPDI:: NC_000007.14:7832928:GGGGGG:GGGGG,NC_000007.14:7832928:GGGGGG:GGGGGGG
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.7832934del, NC_000007.14:g.7832934dup, NC_000007.13:g.7872565del, NC_000007.13:g.7872565dup

Select item 14915513095.

rs1491551309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>CAAA [Show Flanks]
Chromosome:: 7:7860788 (GRCh38)
7:7900419 (GRCh37)
Canonical SPDI:: NC_000007.14:7860787:AT:CAAA
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.7860788_7860789delinsCAAA, NC_000007.13:g.7900419_7900420delinsCAAA

Select item 14915216656.

rs1491521665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 7:7827123 (GRCh38)
7:7866755 (GRCh37)
Canonical SPDI:: NC_000007.14:7827123:T:TGT
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00003/3 (GnomAD)
HGVS:: NC_000007.14:g.7827124_7827125insGT, NC_000007.13:g.7866755_7866756insGT

Select item 14915148417.

rs1491514841 has merged into rs563963870 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 7:7665026 (GRCh38)
7:7704657 (GRCh37)
Canonical SPDI:: NC_000007.14:7665014:ACACACACACACACA:ACACACACACA,NC_000007.14:7665014:ACACACACACACACA:ACACACACACACA,NC_000007.14:7665014:ACACACACACACACA:ACACACACACACACACA,NC_000007.14:7665014:ACACACACACACACA:ACACACACACACACACACA
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
AC=0.00022/1 (Estonian)
HGVS:: NC_000007.14:g.7665016CA[5], NC_000007.14:g.7665016CA[6], NC_000007.14:g.7665016CA[8], NC_000007.14:g.7665016CA[9], NC_000007.13:g.7704647CA[5], NC_000007.13:g.7704647CA[6], NC_000007.13:g.7704647CA[8], NC_000007.13:g.7704647CA[9]

Select item 14915107758.

rs1491510775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:7760415 (GRCh38)
7:7800046 (GRCh37)
Canonical SPDI:: NC_000007.14:7760413:ATA:A
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.7760415_7760416del, NC_000007.13:g.7800046_7800047del

Select item 14915102499.

rs1491510249 has merged into rs777169882 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:7782742 (GRCh38)
7:7822373 (GRCh37)
Canonical SPDI:: NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7782734:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTT=0.00685/4 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000007.14:g.7782742_7782754del, NC_000007.14:g.7782745_7782754del, NC_000007.14:g.7782746_7782754del, NC_000007.14:g.7782747_7782754del, NC_000007.14:g.7782748_7782754del, NC_000007.14:g.7782750_7782754del, NC_000007.14:g.7782751_7782754del, NC_000007.14:g.7782752_7782754del, NC_000007.14:g.7782753_7782754del, NC_000007.14:g.7782754del, NC_000007.14:g.7782754dup, NC_000007.14:g.7782753_7782754dup, NC_000007.14:g.7782752_7782754dup, NC_000007.14:g.7782751_7782754dup, NC_000007.14:g.7782750_7782754dup, NC_000007.13:g.7822373_7822385del, NC_000007.13:g.7822376_7822385del, NC_000007.13:g.7822377_7822385del, NC_000007.13:g.7822378_7822385del, NC_000007.13:g.7822379_7822385del, NC_000007.13:g.7822381_7822385del, NC_000007.13:g.7822382_7822385del, NC_000007.13:g.7822383_7822385del, NC_000007.13:g.7822384_7822385del, NC_000007.13:g.7822385del, NC_000007.13:g.7822385dup, NC_000007.13:g.7822384_7822385dup, NC_000007.13:g.7822383_7822385dup, NC_000007.13:g.7822382_7822385dup, NC_000007.13:g.7822381_7822385dup

Select item 149150654310.

rs1491506543 has merged into rs146375851 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT [Show Flanks]
Chromosome:: 7:7655833 (GRCh38)
7:7695464 (GRCh37)
Canonical SPDI:: NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000007.14:7655819:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TC=0.3/12 (GENOME_DK)
TC=0.373333/224 (NorthernSweden)
TC=0.442492/2216 (1000Genomes)
HGVS:: NC_000007.14:g.7655821CT[6], NC_000007.14:g.7655821CT[7], NC_000007.14:g.7655821CT[8], NC_000007.14:g.7655821CT[10], NC_000007.14:g.7655821CT[11], NC_000007.14:g.7655821CT[12], NC_000007.13:g.7695452CT[6], NC_000007.13:g.7695452CT[7], NC_000007.13:g.7695452CT[8], NC_000007.13:g.7695452CT[10], NC_000007.13:g.7695452CT[11], NC_000007.13:g.7695452CT[12]

Select item 149150630011.

rs1491506300 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,CAAAAAAAAAAAAA,CAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:7761362 (GRCh38)
7:7800994 (GRCh37)
Canonical SPDI:: NC_000007.14:7761362::AAAA,NC_000007.14:7761362::AAAAAAAAAAAAAA,NC_000007.14:7761362::AAAAAAAAAAAAAAA,NC_000007.14:7761362::AAAAAAAAAAAAAAAA,NC_000007.14:7761362::CAAAAAAAAAAAAA,NC_000007.14:7761362::CAAAAAAAAAAAAAA,NC_000007.14:7761362::CAAAAAAAAAAAAAAA
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAA=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.7761362_7761363insAAAA, NC_000007.14:g.7761362_7761363insAAAAAAAAAAAAAA, NC_000007.14:g.7761362_7761363insAAAAAAAAAAAAAAA, NC_000007.14:g.7761362_7761363insAAAAAAAAAAAAAAAA, NC_000007.14:g.7761362_7761363insCAAAAAAAAAAAAA, NC_000007.14:g.7761362_7761363insCAAAAAAAAAAAAAA, NC_000007.14:g.7761362_7761363insCAAAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insAAAA, NC_000007.13:g.7800993_7800994insAAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insAAAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insAAAAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insCAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insCAAAAAAAAAAAAAA, NC_000007.13:g.7800993_7800994insCAAAAAAAAAAAAAAA

Select item 149150226612.

rs1491502266 has merged into rs1491161910 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:7789624 (GRCh38)
7:7829255 (GRCh37)
Canonical SPDI:: NC_000007.14:7789622:CTC:C
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005603/25 (ALFA)
-=0.000495/8 (TOMMO)
-=0.001092/2 (Korea1K)
-=0.003333/2 (NorthernSweden)
-=0.005814/26 (Estonian)
-=0.011367/1440 (GnomAD)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000007.14:g.7789624_7789625del, NC_000007.13:g.7829255_7829256del

Select item 149146394313.

rs1491463943 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:7784855 (GRCh38)
7:7824486 (GRCh37)
Canonical SPDI:: NC_000007.14:7784854:GGGG:GGG,NC_000007.14:7784854:GGGG:GGGGG
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000084/1 (ALFA)
-=0.000016/2 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.7784858del, NC_000007.14:g.7784858dup, NC_000007.13:g.7824489del, NC_000007.13:g.7824489dup

Select item 149146386914.

rs1491463869 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:7805893 (GRCh38)
7:7845524 (GRCh37)
Canonical SPDI:: NC_000007.14:7805891:TAT:T
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000026/3 (GnomAD)
-=0.000076/20 (TOPMED)
HGVS:: NC_000007.14:g.7805893_7805894del, NC_000007.13:g.7845524_7845525del

Select item 149146377915.

rs1491463779 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:7678783 (GRCh38)
7:7718414 (GRCh37)
Canonical SPDI:: NC_000007.14:7678781:TTT:T
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00118/14 (ALFA)
HGVS:: NC_000007.14:g.7678783_7678784del, NC_000007.13:g.7718414_7718415del

Select item 149145927716.

rs1491459277 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:7847056 (GRCh38)
7:7886687 (GRCh37)
Canonical SPDI:: NC_000007.14:7847054:ATA:A
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00005/1 (GnomAD)
-=0.00011/3 (TOMMO)
HGVS:: NC_000007.14:g.7847056_7847057del, NC_000007.13:g.7886687_7886688del

Select item 149145924717.

rs1491459247 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:7761362 (GRCh38)
7:7800993 (GRCh37)
Canonical SPDI:: NC_000007.14:7761361:CT:
Gene:: UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.7761362_7761363del, NC_000007.13:g.7800993_7800994del

Select item 149145063418.

rs1491450634 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:7673367 (GRCh38)
7:7712998 (GRCh37)
Canonical SPDI:: NC_000007.14:7673366:CA:
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000035/1 (TOMMO)
-=0.000175/2 (ExAC)
-=0.00032/40 (GnomAD)
HGVS:: NC_000007.14:g.7673367_7673368del, NC_000007.13:g.7712998_7712999del, NM_001302350.2:c.-217_-216del, NM_001302350.1:c.-217_-216del, NM_001302348.2:c.-5_-4del, NM_001302348.1:c.-5_-4del, NM_001302349.2:c.-5_-4del, NM_001302349.1:c.-5_-4del, NR_034084.1:n.170_171del

Select item 149144731419.

rs1491447314 has merged into rs59221325 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:7796253 (GRCh38)
7:7835884 (GRCh37)
Canonical SPDI:: NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:7796244:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UMAD1 (Varview), LOC105379719 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.7796253_7796268del, NC_000007.14:g.7796254_7796268del, NC_000007.14:g.7796256_7796268del, NC_000007.14:g.7796257_7796268del, NC_000007.14:g.7796258_7796268del, NC_000007.14:g.7796259_7796268del, NC_000007.14:g.7796260_7796268del, NC_000007.14:g.7796261_7796268del, NC_000007.14:g.7796262_7796268del, NC_000007.14:g.7796263_7796268del, NC_000007.14:g.7796264_7796268del, NC_000007.14:g.7796265_7796268del, NC_000007.14:g.7796266_7796268del, NC_000007.14:g.7796267_7796268del, NC_000007.14:g.7796268del, NC_000007.14:g.7796245_7796268T[24]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.7796268dup, NC_000007.14:g.7796267_7796268dup, NC_000007.14:g.7796266_7796268dup, NC_000007.14:g.7796265_7796268dup, NC_000007.14:g.7796264_7796268dup, NC_000007.14:g.7796263_7796268dup, NC_000007.14:g.7796262_7796268dup, NC_000007.14:g.7796261_7796268dup, NC_000007.14:g.7796260_7796268dup, NC_000007.14:g.7796259_7796268dup, NC_000007.14:g.7796258_7796268dup, NC_000007.14:g.7796257_7796268dup, NC_000007.14:g.7796256_7796268dup, NC_000007.14:g.7796255_7796268dup, NC_000007.14:g.7796254_7796268dup, NC_000007.14:g.7796253_7796268dup, NC_000007.14:g.7796252_7796268dup, NC_000007.14:g.7796251_7796268dup, NC_000007.14:g.7796250_7796268dup, NC_000007.14:g.7796249_7796268dup, NC_000007.14:g.7796248_7796268dup, NC_000007.14:g.7796247_7796268dup, NC_000007.14:g.7796246_7796268dup, NC_000007.14:g.7796245_7796268dup, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796245_7796268T[50]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.7796268_7796269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835884_7835899del, NC_000007.13:g.7835885_7835899del, NC_000007.13:g.7835887_7835899del, NC_000007.13:g.7835888_7835899del, NC_000007.13:g.7835889_7835899del, NC_000007.13:g.7835890_7835899del, NC_000007.13:g.7835891_7835899del, NC_000007.13:g.7835892_7835899del, NC_000007.13:g.7835893_7835899del, NC_000007.13:g.7835894_7835899del, NC_000007.13:g.7835895_7835899del, NC_000007.13:g.7835896_7835899del, NC_000007.13:g.7835897_7835899del, NC_000007.13:g.7835898_7835899del, NC_000007.13:g.7835899del, NC_000007.13:g.7835876_7835899T[24]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.7835899dup, NC_000007.13:g.7835898_7835899dup, NC_000007.13:g.7835897_7835899dup, NC_000007.13:g.7835896_7835899dup, NC_000007.13:g.7835895_7835899dup, NC_000007.13:g.7835894_7835899dup, NC_000007.13:g.7835893_7835899dup, NC_000007.13:g.7835892_7835899dup, NC_000007.13:g.7835891_7835899dup, NC_000007.13:g.7835890_7835899dup, NC_000007.13:g.7835889_7835899dup, NC_000007.13:g.7835888_7835899dup, NC_000007.13:g.7835887_7835899dup, NC_000007.13:g.7835886_7835899dup, NC_000007.13:g.7835885_7835899dup, NC_000007.13:g.7835884_7835899dup, NC_000007.13:g.7835883_7835899dup, NC_000007.13:g.7835882_7835899dup, NC_000007.13:g.7835881_7835899dup, NC_000007.13:g.7835880_7835899dup, NC_000007.13:g.7835879_7835899dup, NC_000007.13:g.7835878_7835899dup, NC_000007.13:g.7835877_7835899dup, NC_000007.13:g.7835876_7835899dup, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835876_7835899T[50]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.7835899_7835900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149144393520.

rs1491443935 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:7663516 (GRCh38)
7:7703148 (GRCh37)
Canonical SPDI:: NC_000007.14:7663516:GGGGG:GGGGGG
Gene:: RPA3 (Varview), UMAD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.7663521dup, NC_000007.13:g.7703152dup

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