SNP Links for Gene (Select 57466) - SNP

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Select item 14915692031.

rs1491569203 has merged into rs367618143 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGGG>-,G,GGGGGGG,GGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG [Show Flanks]
Chromosome:: 21:31685001 (GRCh38)
21:33057314 (GRCh37)
Canonical SPDI:: NC_000021.9:31684999:GGGGGGGGGG:G,NC_000021.9:31684999:GGGGGGGGGG:GG,NC_000021.9:31684999:GGGGGGGGGG:GGGGGGGG,NC_000021.9:31684999:GGGGGGGGGG:GGGGGGGGG,NC_000021.9:31684999:GGGGGGGGGG:GGGGGGGGGGG,NC_000021.9:31684999:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.1398/700 (1000Genomes)
HGVS:: NC_000021.9:g.31685001_31685009del, NC_000021.9:g.31685002_31685009del, NC_000021.9:g.31685008_31685009del, NC_000021.9:g.31685009del, NC_000021.9:g.31685009dup, NC_000021.9:g.31685008_31685009dup, NC_000021.8:g.33057314_33057322del, NC_000021.8:g.33057315_33057322del, NC_000021.8:g.33057321_33057322del, NC_000021.8:g.33057322del, NC_000021.8:g.33057322dup, NC_000021.8:g.33057321_33057322dup, NG_047173.1:g.52111_52119del, NG_047173.1:g.52112_52119del, NG_047173.1:g.52118_52119del, NG_047173.1:g.52119del, NG_047173.1:g.52119dup, NG_047173.1:g.52118_52119dup

Select item 14914903522.

rs1491490352 has merged into rs761150826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 21:31686208 (GRCh38)
21:33058521 (GRCh37)
Canonical SPDI:: NC_000021.9:31686203:AAAAAAAAAAAAA:AAAA,NC_000021.9:31686203:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:31686203:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:31686203:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:31686203:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:31686203:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.038603/21 (NorthernSweden)
-=0.090345/335 (TWINSUK)
-=0.096783/373 (ALSPAC)
HGVS:: NC_000021.9:g.31686208_31686216del, NC_000021.9:g.31686214_31686216del, NC_000021.9:g.31686215_31686216del, NC_000021.9:g.31686216del, NC_000021.9:g.31686216dup, NC_000021.9:g.31686215_31686216dup, NC_000021.8:g.33058521_33058529del, NC_000021.8:g.33058527_33058529del, NC_000021.8:g.33058528_33058529del, NC_000021.8:g.33058529del, NC_000021.8:g.33058529dup, NC_000021.8:g.33058528_33058529dup, NG_047173.1:g.50907_50915del, NG_047173.1:g.50913_50915del, NG_047173.1:g.50914_50915del, NG_047173.1:g.50915del, NG_047173.1:g.50915dup, NG_047173.1:g.50914_50915dup

Select item 14914861033.

rs1491486103 has merged into rs11351108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 21:31691790 (GRCh38)
21:33064103 (GRCh37)
Canonical SPDI:: NC_000021.9:31691781:AAAAAAAAAA:AAAAAAAA,NC_000021.9:31691781:AAAAAAAAAA:AAAAAAAAA,NC_000021.9:31691781:AAAAAAAAAA:AAAAAAAAAAA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.029852/702 (ALFA)
A=0.001092/2 (Korea1K)
-=0.040453/150 (TWINSUK)
-=0.04411/170 (ALSPAC)
-=0.052104/52 (GoNL)
-=0.058333/35 (NorthernSweden)
-=0.067411/302 (Estonian)
-=0.06749/9126 (GnomAD_exomes)
A=0.227621/89 (1000Genomes)
HGVS:: NC_000021.9:g.31691790_31691791del, NC_000021.9:g.31691791del, NC_000021.9:g.31691791dup, NC_000021.8:g.33064103_33064104del, NC_000021.8:g.33064104del, NC_000021.8:g.33064104dup, NG_047173.1:g.45336_45337del, NG_047173.1:g.45337del, NG_047173.1:g.45337dup

Select item 14914818234.

rs1491481823 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACATA,CACACATA,CACATA,CATA [Show Flanks]
Chromosome:: 21:31717946 (GRCh38)
21:33090260 (GRCh37)
Canonical SPDI:: NC_000021.9:31717946:A:ACACACACATA,NC_000021.9:31717946:A:ACACACATA,NC_000021.9:31717946:A:ACACATA,NC_000021.9:31717946:A:ACATA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACATA=0./0 (ALFA)
HGVS:: NC_000021.9:g.31717947AC[4]ATA[1], NC_000021.9:g.31717947AC[3]ATA[1], NC_000021.9:g.31717947AC[2]ATA[1], NC_000021.9:g.31717947_31717948insCATA, NC_000021.8:g.33090260AC[4]ATA[1], NC_000021.8:g.33090260AC[3]ATA[1], NC_000021.8:g.33090260AC[2]ATA[1], NC_000021.8:g.33090260_33090261insCATA, NG_047173.1:g.19172_19173insATGTGTGTGT, NG_047173.1:g.19172_19173insATGTGTGT, NG_047173.1:g.19172_19173insATGTGT, NG_047173.1:g.19172_19173insATGT

Select item 14914591465.

rs1491459146 has merged into rs11408552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:31712234 (GRCh38)
21:33084547 (GRCh37)
Canonical SPDI:: NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31712222:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.0003/1 (TWINSUK)
-=0.3215/1610 (1000Genomes)
HGVS:: NC_000021.9:g.31712234_31712237del, NC_000021.9:g.31712235_31712237del, NC_000021.9:g.31712236_31712237del, NC_000021.9:g.31712237del, NC_000021.9:g.31712237dup, NC_000021.9:g.31712236_31712237dup, NC_000021.9:g.31712235_31712237dup, NC_000021.9:g.31712234_31712237dup, NC_000021.9:g.31712233_31712237dup, NC_000021.9:g.31712231_31712237dup, NC_000021.9:g.31712230_31712237dup, NC_000021.9:g.31712227_31712237dup, NC_000021.9:g.31712226_31712237dup, NC_000021.9:g.31712225_31712237dup, NC_000021.9:g.31712224_31712237dup, NC_000021.9:g.31712223_31712237dup, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.31712237_31712238insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084547_33084550del, NC_000021.8:g.33084548_33084550del, NC_000021.8:g.33084549_33084550del, NC_000021.8:g.33084550del, NC_000021.8:g.33084550dup, NC_000021.8:g.33084549_33084550dup, NC_000021.8:g.33084548_33084550dup, NC_000021.8:g.33084547_33084550dup, NC_000021.8:g.33084546_33084550dup, NC_000021.8:g.33084544_33084550dup, NC_000021.8:g.33084543_33084550dup, NC_000021.8:g.33084540_33084550dup, NC_000021.8:g.33084539_33084550dup, NC_000021.8:g.33084538_33084550dup, NC_000021.8:g.33084537_33084550dup, NC_000021.8:g.33084536_33084550dup, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.33084550_33084551insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047173.1:g.24893_24896del, NG_047173.1:g.24894_24896del, NG_047173.1:g.24895_24896del, NG_047173.1:g.24896del, NG_047173.1:g.24896dup, NG_047173.1:g.24895_24896dup, NG_047173.1:g.24894_24896dup, NG_047173.1:g.24893_24896dup, NG_047173.1:g.24892_24896dup, NG_047173.1:g.24890_24896dup, NG_047173.1:g.24889_24896dup, NG_047173.1:g.24886_24896dup, NG_047173.1:g.24885_24896dup, NG_047173.1:g.24884_24896dup, NG_047173.1:g.24883_24896dup, NG_047173.1:g.24882_24896dup, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047173.1:g.24896_24897insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914487106.

rs1491448710 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 21:31670629 (GRCh38)
21:33042943 (GRCh37)
Canonical SPDI:: NC_000021.9:31670629:A:AGA
Gene:: SCAF4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000022/3 (GnomAD)
HGVS:: NC_000021.9:g.31670630_31670631insGA, NC_000021.8:g.33042943_33042944insGA, NG_047173.1:g.66489_66490insCT, NG_008689.1:g.16009_16010insGA

Select item 14914113047.

rs1491411304 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:31709365 (GRCh38)
21:33081678 (GRCh37)
Canonical SPDI:: NC_000021.9:31709363:AGA:A
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.31709365_31709366del, NC_000021.8:g.33081678_33081679del, NG_047173.1:g.27754_27755del

Select item 14913898488.

rs1491389848 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:31686203 (GRCh38)
21:33058516 (GRCh37)
Canonical SPDI:: NC_000021.9:31686202:CA:
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00143/17 (ALFA)
-=0.00207/58 (TOMMO)
HGVS:: NC_000021.9:g.31686203_31686204del, NC_000021.8:g.33058516_33058517del, NG_047173.1:g.50915_50916del

Select item 14913554999.

rs1491355499 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:31723610 (GRCh38)
21:33095923 (GRCh37)
Canonical SPDI:: NC_000021.9:31723609:AT:
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000021.9:g.31723610_31723611del, NC_000021.8:g.33095923_33095924del, NG_047173.1:g.13508_13509del

Select item 149125868210.

rs1491258682 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 149121083911.

rs1491210839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 21:31728226 (GRCh38)
21:33100540 (GRCh37)
Canonical SPDI:: NC_000021.9:31728226:TATATATATA:TATATATATATA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
TA=0.000007/1 (GnomAD)
TA=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.31728227TA[6], NC_000021.8:g.33100540TA[6], NG_047173.1:g.8883TA[6]

Select item 149120519212.

rs1491205192 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:31670631 (GRCh38)
21:33042944 (GRCh37)
Canonical SPDI:: NC_000021.9:31670628:CACA:CA
Gene:: SCAF4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000021.9:g.31670629CA[1], NC_000021.8:g.33042942CA[1], NG_047173.1:g.66487TG[1], NG_008689.1:g.16008CA[1]

Select item 149120465613.

rs1491204656 has merged into rs1030749806 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:31721735 (GRCh38)
21:33094048 (GRCh37)
Canonical SPDI:: NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31721725:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.31721735_31721744del, NC_000021.9:g.31721736_31721744del, NC_000021.9:g.31721737_31721744del, NC_000021.9:g.31721738_31721744del, NC_000021.9:g.31721740_31721744del, NC_000021.9:g.31721742_31721744del, NC_000021.9:g.31721743_31721744del, NC_000021.9:g.31721744del, NC_000021.9:g.31721744dup, NC_000021.9:g.31721743_31721744dup, NC_000021.9:g.31721742_31721744dup, NC_000021.9:g.31721741_31721744dup, NC_000021.9:g.31721740_31721744dup, NC_000021.9:g.31721739_31721744dup, NC_000021.9:g.31721738_31721744dup, NC_000021.9:g.31721737_31721744dup, NC_000021.9:g.31721736_31721744dup, NC_000021.8:g.33094048_33094057del, NC_000021.8:g.33094049_33094057del, NC_000021.8:g.33094050_33094057del, NC_000021.8:g.33094051_33094057del, NC_000021.8:g.33094053_33094057del, NC_000021.8:g.33094055_33094057del, NC_000021.8:g.33094056_33094057del, NC_000021.8:g.33094057del, NC_000021.8:g.33094057dup, NC_000021.8:g.33094056_33094057dup, NC_000021.8:g.33094055_33094057dup, NC_000021.8:g.33094054_33094057dup, NC_000021.8:g.33094053_33094057dup, NC_000021.8:g.33094052_33094057dup, NC_000021.8:g.33094051_33094057dup, NC_000021.8:g.33094050_33094057dup, NC_000021.8:g.33094049_33094057dup, NG_047173.1:g.15384_15393del, NG_047173.1:g.15385_15393del, NG_047173.1:g.15386_15393del, NG_047173.1:g.15387_15393del, NG_047173.1:g.15389_15393del, NG_047173.1:g.15391_15393del, NG_047173.1:g.15392_15393del, NG_047173.1:g.15393del, NG_047173.1:g.15393dup, NG_047173.1:g.15392_15393dup, NG_047173.1:g.15391_15393dup, NG_047173.1:g.15390_15393dup, NG_047173.1:g.15389_15393dup, NG_047173.1:g.15388_15393dup, NG_047173.1:g.15387_15393dup, NG_047173.1:g.15386_15393dup, NG_047173.1:g.15385_15393dup

Select item 149117746514.

rs1491177465 has merged into rs560133020 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 21:31709866 (GRCh38)
21:33082179 (GRCh37)
Canonical SPDI:: NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:31709854:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.101341/26824 (TOPMED)
-=0.15/6 (GENOME_DK)
-=0.184505/924 (1000Genomes)
HGVS:: NC_000021.9:g.31709866_31709869del, NC_000021.9:g.31709867_31709869del, NC_000021.9:g.31709868_31709869del, NC_000021.9:g.31709869del, NC_000021.9:g.31709869dup, NC_000021.9:g.31709868_31709869dup, NC_000021.9:g.31709866_31709869dup, NC_000021.9:g.31709864_31709869dup, NC_000021.8:g.33082179_33082182del, NC_000021.8:g.33082180_33082182del, NC_000021.8:g.33082181_33082182del, NC_000021.8:g.33082182del, NC_000021.8:g.33082182dup, NC_000021.8:g.33082181_33082182dup, NC_000021.8:g.33082179_33082182dup, NC_000021.8:g.33082177_33082182dup, NG_047173.1:g.27261_27264del, NG_047173.1:g.27262_27264del, NG_047173.1:g.27263_27264del, NG_047173.1:g.27264del, NG_047173.1:g.27264dup, NG_047173.1:g.27263_27264dup, NG_047173.1:g.27261_27264dup, NG_047173.1:g.27259_27264dup

Select item 149113215615.

rs1491132156 has merged into rs57530611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 21:31682386 (GRCh38)
21:33054699 (GRCh37)
Canonical SPDI:: NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:31682376:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.05254/31 (NorthernSweden)
A=0.22684/1136 (1000Genomes)
HGVS:: NC_000021.9:g.31682386_31682390del, NC_000021.9:g.31682388_31682390del, NC_000021.9:g.31682389_31682390del, NC_000021.9:g.31682390del, NC_000021.9:g.31682390dup, NC_000021.9:g.31682389_31682390dup, NC_000021.8:g.33054699_33054703del, NC_000021.8:g.33054701_33054703del, NC_000021.8:g.33054702_33054703del, NC_000021.8:g.33054703del, NC_000021.8:g.33054703dup, NC_000021.8:g.33054702_33054703dup, NG_047173.1:g.54738_54742del, NG_047173.1:g.54740_54742del, NG_047173.1:g.54741_54742del, NG_047173.1:g.54742del, NG_047173.1:g.54742dup, NG_047173.1:g.54741_54742dup

Select item 149110052316.

rs1491100523 has merged into rs796625672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 21:31717832 (GRCh38)
21:33090145 (GRCh37)
Canonical SPDI:: NC_000021.9:31717826:ATATATATATATATATA:ATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000021.9:31717826:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000021.9:g.31717828TA[2], NC_000021.9:g.31717828TA[3], NC_000021.9:g.31717828TA[4], NC_000021.9:g.31717828TA[5], NC_000021.9:g.31717828TA[6], NC_000021.9:g.31717828TA[7], NC_000021.9:g.31717828TA[9], NC_000021.9:g.31717828TA[10], NC_000021.9:g.31717828TA[11], NC_000021.9:g.31717828TA[12], NC_000021.9:g.31717828TA[13], NC_000021.9:g.31717828TA[14], NC_000021.9:g.31717828TA[15], NC_000021.9:g.31717828TA[16], NC_000021.9:g.31717828TA[17], NC_000021.9:g.31717828TA[18], NC_000021.9:g.31717828TA[23], NC_000021.8:g.33090141TA[2], NC_000021.8:g.33090141TA[3], NC_000021.8:g.33090141TA[4], NC_000021.8:g.33090141TA[5], NC_000021.8:g.33090141TA[6], NC_000021.8:g.33090141TA[7], NC_000021.8:g.33090141TA[9], NC_000021.8:g.33090141TA[10], NC_000021.8:g.33090141TA[11], NC_000021.8:g.33090141TA[12], NC_000021.8:g.33090141TA[13], NC_000021.8:g.33090141TA[14], NC_000021.8:g.33090141TA[15], NC_000021.8:g.33090141TA[16], NC_000021.8:g.33090141TA[17], NC_000021.8:g.33090141TA[18], NC_000021.8:g.33090141TA[23], NG_047173.1:g.19277AT[2], NG_047173.1:g.19277AT[3], NG_047173.1:g.19277AT[4], NG_047173.1:g.19277AT[5], NG_047173.1:g.19277AT[6], NG_047173.1:g.19277AT[7], NG_047173.1:g.19277AT[9], NG_047173.1:g.19277AT[10], NG_047173.1:g.19277AT[11], NG_047173.1:g.19277AT[12], NG_047173.1:g.19277AT[13], NG_047173.1:g.19277AT[14], NG_047173.1:g.19277AT[15], NG_047173.1:g.19277AT[16], NG_047173.1:g.19277AT[17], NG_047173.1:g.19277AT[18], NG_047173.1:g.19277AT[23]

Select item 149104616717.

rs1491046167 has merged into rs5843527 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:31691688 (GRCh38)
21:33064001 (GRCh37)
Canonical SPDI:: NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:31691672:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.33287/1667 (1000Genomes)
A=0.375/3 (KOREAN)
HGVS:: NC_000021.9:g.31691688_31691691del, NC_000021.9:g.31691689_31691691del, NC_000021.9:g.31691690_31691691del, NC_000021.9:g.31691691del, NC_000021.9:g.31691691dup, NC_000021.9:g.31691690_31691691dup, NC_000021.9:g.31691689_31691691dup, NC_000021.9:g.31691688_31691691dup, NC_000021.9:g.31691686_31691691dup, NC_000021.9:g.31691679_31691691dup, NC_000021.9:g.31691678_31691691dup, NC_000021.9:g.31691677_31691691dup, NC_000021.9:g.31691691_31691692insAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.33064001_33064004del, NC_000021.8:g.33064002_33064004del, NC_000021.8:g.33064003_33064004del, NC_000021.8:g.33064004del, NC_000021.8:g.33064004dup, NC_000021.8:g.33064003_33064004dup, NC_000021.8:g.33064002_33064004dup, NC_000021.8:g.33064001_33064004dup, NC_000021.8:g.33063999_33064004dup, NC_000021.8:g.33063992_33064004dup, NC_000021.8:g.33063991_33064004dup, NC_000021.8:g.33063990_33064004dup, NC_000021.8:g.33064004_33064005insAAAAAAAAAAAAAAAAAAAA, NG_047173.1:g.45443_45446del, NG_047173.1:g.45444_45446del, NG_047173.1:g.45445_45446del, NG_047173.1:g.45446del, NG_047173.1:g.45446dup, NG_047173.1:g.45445_45446dup, NG_047173.1:g.45444_45446dup, NG_047173.1:g.45443_45446dup, NG_047173.1:g.45441_45446dup, NG_047173.1:g.45434_45446dup, NG_047173.1:g.45433_45446dup, NG_047173.1:g.45432_45446dup, NG_047173.1:g.45446_45447insTTTTTTTTTTTTTTTTTTTT

Select item 149094092218.

rs1490940922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:31702366 (GRCh38)
21:33074679 (GRCh37)
Canonical SPDI:: NC_000021.9:31702365:C:T
Gene:: SCAF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.31702366C>T, NC_000021.8:g.33074679C>T, NG_047173.1:g.34753G>A, NM_020706.2:c.335G>A, NM_001145444.1:c.290G>A, NM_001145445.1:c.335G>A, XM_006724035.4:c.335G>A, XM_006724035.3:c.335G>A, XM_006724035.2:c.335G>A, XM_006724035.1:c.335G>A, XM_006724036.4:c.335G>A, XM_006724036.3:c.335G>A, XM_006724036.2:c.335G>A, XM_006724036.1:c.335G>A, XM_005261017.4:c.335G>A, XM_005261017.3:c.335G>A, XM_005261017.2:c.335G>A, XM_005261017.1:c.335G>A, XM_017028417.2:c.335G>A, XM_017028417.1:c.335G>A, XM_047440931.1:c.335G>A, XM_047440932.1:c.335G>A, NP_065757.1:p.Arg112His, NP_001138916.1:p.Arg97His, NP_001138917.1:p.Arg112His, XP_006724098.1:p.Arg112His, XP_006724099.1:p.Arg112His, XP_005261074.1:p.Arg112His, XP_016883906.1:p.Arg112His, XP_047296887.1:p.Arg112His, XP_047296888.1:p.Arg112His

Select item 149093210219.

rs1490932102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:31728681 (GRCh38)
21:33100994 (GRCh37)
Canonical SPDI:: NC_000021.9:31728680:G:C
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.31728681G>C, NC_000021.8:g.33100994G>C, NG_047173.1:g.8438C>G

Select item 149086996920.

rs1490869969 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 21:31680079 (GRCh38)
21:33052392 (GRCh37)
Canonical SPDI:: NC_000021.9:31680078:AA:A
Gene:: SCAF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.31680080del, NC_000021.8:g.33052393del, NG_047173.1:g.57040del

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