SNP Links for Gene (Select 101928551) - SNP

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Select item 14914112551.

rs1491411255 [Homo sapiens]

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

Select item 14913817992.

rs1491381799 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:174862643 (GRCh38)
4:175783794 (GRCh37)
Canonical SPDI:: NC_000004.12:174862642:AT:
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.174862643_174862644del, NC_000004.11:g.175783794_175783795del

Select item 14913790883.

rs1491379088 has merged into rs71244919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:174867069 (GRCh38)
4:175788220 (GRCh37)
Canonical SPDI:: NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:174867058:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000004.12:g.174867059TG[5], NC_000004.12:g.174867059TG[8], NC_000004.12:g.174867059TG[9], NC_000004.12:g.174867059TG[10], NC_000004.12:g.174867059TG[11], NC_000004.12:g.174867059TG[13], NC_000004.12:g.174867059TG[14], NC_000004.12:g.174867059TG[15], NC_000004.12:g.174867059TG[16], NC_000004.12:g.174867059TG[17], NC_000004.12:g.174867059TG[18], NC_000004.11:g.175788210TG[5], NC_000004.11:g.175788210TG[8], NC_000004.11:g.175788210TG[9], NC_000004.11:g.175788210TG[10], NC_000004.11:g.175788210TG[11], NC_000004.11:g.175788210TG[13], NC_000004.11:g.175788210TG[14], NC_000004.11:g.175788210TG[15], NC_000004.11:g.175788210TG[16], NC_000004.11:g.175788210TG[17], NC_000004.11:g.175788210TG[18]

Select item 14913765834.

rs1491376583 has merged into rs68102239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 4:174867096 (GRCh38)
4:175788247 (GRCh37)
Canonical SPDI:: NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:174867081:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.174867082GA[7], NC_000004.12:g.174867082GA[8], NC_000004.12:g.174867082GA[9], NC_000004.12:g.174867082GA[11], NC_000004.12:g.174867082GA[12], NC_000004.12:g.174867082GA[13], NC_000004.12:g.174867082GA[14], NC_000004.12:g.174867082GA[15], NC_000004.12:g.174867082GA[16], NC_000004.11:g.175788233GA[7], NC_000004.11:g.175788233GA[8], NC_000004.11:g.175788233GA[9], NC_000004.11:g.175788233GA[11], NC_000004.11:g.175788233GA[12], NC_000004.11:g.175788233GA[13], NC_000004.11:g.175788233GA[14], NC_000004.11:g.175788233GA[15], NC_000004.11:g.175788233GA[16]

Select item 14913162575.

rs1491316257 has merged into rs762138223 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:174846016 (GRCh38)
4:175767167 (GRCh37)
Canonical SPDI:: NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:174846003:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000004.12:g.174846016_174846031del, NC_000004.12:g.174846017_174846031del, NC_000004.12:g.174846018_174846031del, NC_000004.12:g.174846019_174846031del, NC_000004.12:g.174846020_174846031del, NC_000004.12:g.174846021_174846031del, NC_000004.12:g.174846022_174846031del, NC_000004.12:g.174846023_174846031del, NC_000004.12:g.174846024_174846031del, NC_000004.12:g.174846025_174846031del, NC_000004.12:g.174846026_174846031del, NC_000004.12:g.174846027_174846031del, NC_000004.12:g.174846028_174846031del, NC_000004.12:g.174846029_174846031del, NC_000004.12:g.174846030_174846031del, NC_000004.12:g.174846031del, NC_000004.12:g.174846031dup, NC_000004.12:g.174846030_174846031dup, NC_000004.12:g.174846029_174846031dup, NC_000004.12:g.174846028_174846031dup, NC_000004.12:g.174846027_174846031dup, NC_000004.12:g.174846026_174846031dup, NC_000004.12:g.174846025_174846031dup, NC_000004.12:g.174846024_174846031dup, NC_000004.12:g.174846023_174846031dup, NC_000004.11:g.175767167_175767182del, NC_000004.11:g.175767168_175767182del, NC_000004.11:g.175767169_175767182del, NC_000004.11:g.175767170_175767182del, NC_000004.11:g.175767171_175767182del, NC_000004.11:g.175767172_175767182del, NC_000004.11:g.175767173_175767182del, NC_000004.11:g.175767174_175767182del, NC_000004.11:g.175767175_175767182del, NC_000004.11:g.175767176_175767182del, NC_000004.11:g.175767177_175767182del, NC_000004.11:g.175767178_175767182del, NC_000004.11:g.175767179_175767182del, NC_000004.11:g.175767180_175767182del, NC_000004.11:g.175767181_175767182del, NC_000004.11:g.175767182del, NC_000004.11:g.175767182dup, NC_000004.11:g.175767181_175767182dup, NC_000004.11:g.175767180_175767182dup, NC_000004.11:g.175767179_175767182dup, NC_000004.11:g.175767178_175767182dup, NC_000004.11:g.175767177_175767182dup, NC_000004.11:g.175767176_175767182dup, NC_000004.11:g.175767175_175767182dup, NC_000004.11:g.175767174_175767182dup

Select item 14909759086.

rs1490975908 has merged into rs55741725 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:174837467 (GRCh38)
4:175758618 (GRCh37)
Canonical SPDI:: NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:174837455:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.174837467_174837473del, NC_000004.12:g.174837470_174837473del, NC_000004.12:g.174837471_174837473del, NC_000004.12:g.174837472_174837473del, NC_000004.12:g.174837473del, NC_000004.12:g.174837473dup, NC_000004.12:g.174837472_174837473dup, NC_000004.12:g.174837471_174837473dup, NC_000004.12:g.174837470_174837473dup, NC_000004.12:g.174837469_174837473dup, NC_000004.12:g.174837468_174837473dup, NC_000004.12:g.174837467_174837473dup, NC_000004.12:g.174837466_174837473dup, NC_000004.12:g.174837465_174837473dup, NC_000004.12:g.174837464_174837473dup, NC_000004.12:g.174837462_174837473dup, NC_000004.12:g.174837461_174837473dup, NC_000004.12:g.174837459_174837473dup, NC_000004.12:g.174837458_174837473dup, NC_000004.12:g.174837457_174837473dup, NC_000004.12:g.174837473_174837474insAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.174837473_174837474insAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.174837473_174837474insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.174837473_174837474insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.174837473_174837474insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.175758618_175758624del, NC_000004.11:g.175758621_175758624del, NC_000004.11:g.175758622_175758624del, NC_000004.11:g.175758623_175758624del, NC_000004.11:g.175758624del, NC_000004.11:g.175758624dup, NC_000004.11:g.175758623_175758624dup, NC_000004.11:g.175758622_175758624dup, NC_000004.11:g.175758621_175758624dup, NC_000004.11:g.175758620_175758624dup, NC_000004.11:g.175758619_175758624dup, NC_000004.11:g.175758618_175758624dup, NC_000004.11:g.175758617_175758624dup, NC_000004.11:g.175758616_175758624dup, NC_000004.11:g.175758615_175758624dup, NC_000004.11:g.175758613_175758624dup, NC_000004.11:g.175758612_175758624dup, NC_000004.11:g.175758610_175758624dup, NC_000004.11:g.175758609_175758624dup, NC_000004.11:g.175758608_175758624dup, NC_000004.11:g.175758624_175758625insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.175758624_175758625insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.175758624_175758625insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.175758624_175758625insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.175758624_175758625insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909355897.

rs1490935589 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATTTT [Show Flanks]
Chromosome:: 4:174851441 (GRCh38)
4:175772593 (GRCh37)
Canonical SPDI:: NC_000004.12:174851441:TTGATTTT:TTGATTTTGATTTT
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGATTTTGATTTT=0./0 (ALFA)
TTGATT=0.000004/1 (TOPMED)
TTGATT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.174851444_174851449dup, NC_000004.11:g.175772595_175772600dup

Select item 14909202138.

rs1490920213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:174852436 (GRCh38)
4:175773587 (GRCh37)
Canonical SPDI:: NC_000004.12:174852435:A:G
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.174852436A>G, NC_000004.11:g.175773587A>G

Select item 14909077319.

rs1490907731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:174873228 (GRCh38)
4:175794379 (GRCh37)
Canonical SPDI:: NC_000004.12:174873227:A:G
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.174873228A>G, NC_000004.11:g.175794379A>G

Select item 149082684110.

rs1490826841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGGGCTTT [Show Flanks]
Chromosome:: 4:174848877 (GRCh38)
4:175770029 (GRCh37)
Canonical SPDI:: NC_000004.12:174848877:TATGTGGGCTTT:TATGTGGGCTTTATGTGGGCTTT
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATGTGGGCTTTATGTGGGCTTT=0.0002/1 (ALFA)
TATGTGGGCTT=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.174848879_174848889dup, NC_000004.11:g.175770030_175770040dup

Select item 149079133611.

rs1490791336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:174851267 (GRCh38)
4:175772418 (GRCh37)
Canonical SPDI:: NC_000004.12:174851266:A:G
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000004.12:g.174851267A>G, NC_000004.11:g.175772418A>G

Select item 149067737212.

rs1490677372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:174836693 (GRCh38)
4:175757844 (GRCh37)
Canonical SPDI:: NC_000004.12:174836692:C:T
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000354/6 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.174836693C>T, NC_000004.11:g.175757844C>T

Select item 149048485313.

rs1490484853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174837167 (GRCh38)
4:175758318 (GRCh37)
Canonical SPDI:: NC_000004.12:174837166:T:C
Gene:: LOC101928551 (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_000004.12:g.174837167T>C, NC_000004.11:g.175758318T>C

Select item 149044616214.

rs1490446162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:174850947 (GRCh38)
4:175772098 (GRCh37)
Canonical SPDI:: NC_000004.12:174850946:G:A
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.174850947G>A, NC_000004.11:g.175772098G>A

Select item 149044277515.

rs1490442775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:174831804 (GRCh38)
4:175752955 (GRCh37)
Canonical SPDI:: NC_000004.12:174831803:A:C
Gene:: LOC101928551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.174831804A>C, NC_000004.11:g.175752955A>C, NR_125900.1:n.77A>C

Select item 149043174416.

rs1490431744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174852023 (GRCh38)
4:175773174 (GRCh37)
Canonical SPDI:: NC_000004.12:174852022:T:C
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.174852023T>C, NC_000004.11:g.175773174T>C

Select item 149037817817.

rs1490378178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:174866608 (GRCh38)
4:175787759 (GRCh37)
Canonical SPDI:: NC_000004.12:174866607:C:T
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.174866608C>T, NC_000004.11:g.175787759C>T

Select item 149037246218.

rs1490372462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:174863585 (GRCh38)
4:175784736 (GRCh37)
Canonical SPDI:: NC_000004.12:174863584:C:G
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.174863585C>G, NC_000004.11:g.175784736C>G

Select item 149030721619.

rs1490307216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:174858678 (GRCh38)
4:175779829 (GRCh37)
Canonical SPDI:: NC_000004.12:174858677:C:A
Gene:: LOC101928551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00009/5 (GnomAD)
HGVS:: NC_000004.12:g.174858678C>A, NC_000004.11:g.175779829C>A

Select item 149029995320.

rs1490299953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:174869954 (GRCh38)
4:175791105 (GRCh37)
Canonical SPDI:: NC_000004.12:174869953:A:T
Gene:: LOC101928551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.174869954A>T, NC_000004.11:g.175791105A>T, NR_125900.1:n.1474A>T

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