SNP Links for Gene (Select 340198) - SNP

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Select item 14912769911.

rs1491276991 has merged into rs34680752 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:29750563 (GRCh38)
6:29718340 (GRCh37)
Canonical SPDI:: NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.0003/2 (ALFA)
T=0.0149/2 (Korea1K)
-=0.4637/1787 (ALSPAC)
TT=0.4867/2012 (1000Genomes)
HGVS:: NC_000006.12:g.29750563_29750565del, NC_000006.12:g.29750564_29750565del, NC_000006.12:g.29750565del, NC_000006.12:g.29750565dup, NC_000006.12:g.29750564_29750565dup, NC_000006.11:g.29718340_29718342del, NC_000006.11:g.29718341_29718342del, NC_000006.11:g.29718342del, NC_000006.11:g.29718342dup, NC_000006.11:g.29718341_29718342dup, NT_113891.3:g.1234407_1234408dup, NT_113891.3:g.1234408del, NT_113891.3:g.1234408dup, NT_113891.3:g.1234406_1234408dup, NT_113891.3:g.1234405_1234408dup, NT_167248.2:g.1013605_1013606dup, NT_167248.2:g.1013606del, NT_167248.2:g.1013606dup, NT_167248.2:g.1013604_1013606dup, NT_167248.2:g.1013603_1013606dup, NT_167245.2:g.1013631_1013632dup, NT_167245.2:g.1013632del, NT_167245.2:g.1013632dup, NT_167245.2:g.1013630_1013632dup, NT_167245.2:g.1013629_1013632dup, NT_167249.2:g.1056791dup, NT_167249.2:g.1056790_1056791del, NT_167249.2:g.1056791del, NT_167249.2:g.1056790_1056791dup, NT_167249.2:g.1056789_1056791dup, NT_167246.2:g.1013226_1013227dup, NT_167246.2:g.1013227del, NT_167246.2:g.1013227dup, NT_167246.2:g.1013225_1013227dup, NT_167246.2:g.1013224_1013227dup, NT_167247.2:g.1013289_1013291del, NT_167247.2:g.1013290_1013291del, NT_167247.2:g.1013291del, NT_167247.2:g.1013291dup, NT_167247.2:g.1013290_1013291dup, NT_167247.1:g.1018874_1018876del, NT_167247.1:g.1018875_1018876del, NT_167247.1:g.1018876del, NT_167247.1:g.1018876dup, NT_167247.1:g.1018875_1018876dup, NT_113891.2:g.1234513_1234514dup, NT_113891.2:g.1234514del, NT_113891.2:g.1234514dup, NT_113891.2:g.1234512_1234514dup, NT_113891.2:g.1234511_1234514dup, NT_167248.1:g.1019201_1019202dup, NT_167248.1:g.1019202del, NT_167248.1:g.1019202dup, NT_167248.1:g.1019200_1019202dup, NT_167248.1:g.1019199_1019202dup, NT_167245.1:g.1019216_1019217dup, NT_167245.1:g.1019217del, NT_167245.1:g.1019217dup, NT_167245.1:g.1019215_1019217dup, NT_167245.1:g.1019214_1019217dup, NT_167249.1:g.1056089dup, NT_167249.1:g.1056088_1056089del, NT_167249.1:g.1056089del, NT_167249.1:g.1056088_1056089dup, NT_167249.1:g.1056087_1056089dup, NT_167246.1:g.1018846_1018847dup, NT_167246.1:g.1018847del, NT_167246.1:g.1018847dup, NT_167246.1:g.1018845_1018847dup, NT_167246.1:g.1018844_1018847dup

Select item 14911565822.

rs1491156582 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:29750552 (GRCh38)
6:29718329 (GRCh37)
Canonical SPDI:: NC_000006.12:29750551:AT:
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00017/16 (GnomAD)
HGVS:: NC_000006.12:g.29750552_29750553del, NC_000006.11:g.29718329_29718330del, NT_113891.3:g.1234408dup, NT_113891.3:g.1234397del, NT_167248.2:g.1013606dup, NT_167248.2:g.1013595del, NT_167245.2:g.1013632dup, NT_167245.2:g.1013621del, NT_167249.2:g.1056791dup, NT_167249.2:g.1056779del, NT_167246.2:g.1013227dup, NT_167246.2:g.1013216del, NT_167247.2:g.1013278_1013279del, NT_167247.1:g.1018863_1018864del, NT_113891.2:g.1234514dup, NT_113891.2:g.1234503del, NT_167248.1:g.1019202dup, NT_167248.1:g.1019191del, NT_167245.1:g.1019217dup, NT_167245.1:g.1019206del, NT_167249.1:g.1056089dup, NT_167249.1:g.1056077del, NT_167246.1:g.1018847dup, NT_167246.1:g.1018836del

Select item 14900277873.

rs1490027787 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:29751483 (GRCh38)
6:29719260 (GRCh37)
Canonical SPDI:: NC_000006.12:29751482:AC:
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01096/49 (ALFA)
-=0.00226/64 (TOMMO)
-=0.01094/49 (Estonian)
HGVS:: NC_000006.12:g.29751483_29751484del, NC_000006.11:g.29719260_29719261del, NT_113891.3:g.1235327_1235328del, NT_113891.2:g.1235433_1235434del, NT_167248.2:g.1014525_1014526del, NT_167248.1:g.1020121_1020122del, NT_167245.2:g.1014551_1014552del, NT_167245.1:g.1020136_1020137del, NT_167249.2:g.1057710_1057711del, NT_167249.1:g.1057008_1057009del, NT_167246.2:g.1014146_1014147del, NT_167246.1:g.1019766_1019767del, NT_167247.2:g.1014209_1014210del, NT_167247.1:g.1019794_1019795del

Select item 14894574804.

rs1489457480 has merged into rs3031413 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCG>-,CTCGCTCG [Show Flanks]
Chromosome:: 6:29752358 (GRCh38)
6:29720135 (GRCh37)
Canonical SPDI:: NC_000006.12:29752351:CGCTCGCTCG:CGCTCG,NC_000006.12:29752351:CGCTCGCTCG:CGCTCGCTCGCTCG
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCTCGCTCGCTCG=0./0 (ALFA)
CGCT=0.004671/78 (TOMMO)
CGCT=0.125/5 (GENOME_DK)
CGCT=0.226667/136 (NorthernSweden)
CGCT=0.235078/1024 (Estonian)
CGCT=0.255057/67511 (TOPMED)
HGVS:: NC_000006.12:g.29752354CTCG[1], NC_000006.12:g.29752354CTCG[3], NC_000006.11:g.29720131CTCG[1], NC_000006.11:g.29720131CTCG[3], NT_113891.3:g.1236198_1236201dup, NT_113891.3:g.1236198CTCG[3], NT_167248.2:g.1015396_1015399dup, NT_167248.2:g.1015396CTCG[3], NT_167245.2:g.1015422_1015425dup, NT_167245.2:g.1015422CTCG[3], NT_167249.2:g.1058581_1058584dup, NT_167249.2:g.1058581CTCG[3], NT_167246.2:g.1015017_1015020dup, NT_167246.2:g.1015017CTCG[3], NT_167247.2:g.1015080_1015083dup, NT_167247.2:g.1015080CTCG[3], NT_113891.2:g.1236304_1236307dup, NT_113891.2:g.1236304CTCG[3], NT_167248.1:g.1020992_1020995dup, NT_167248.1:g.1020992CTCG[3], NT_167245.1:g.1021007_1021010dup, NT_167245.1:g.1021007CTCG[3], NT_167249.1:g.1057879_1057882dup, NT_167249.1:g.1057879CTCG[3], NT_167246.1:g.1020637_1020640dup, NT_167246.1:g.1020637CTCG[3], NT_167247.1:g.1020665_1020668dup, NT_167247.1:g.1020665CTCG[3]

Select item 14878286715.

rs1487828671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29752435 (GRCh38)
6:29720212 (GRCh37)
Canonical SPDI:: NC_000006.12:29752434:C:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.29752435C>T, NC_000006.11:g.29720212C>T, NT_113891.3:g.1236275C>T, NT_113891.2:g.1236381C>T, NT_167248.2:g.1015473C>T, NT_167248.1:g.1021069C>T, NT_167245.2:g.1015499C>T, NT_167245.1:g.1021084C>T, NT_167249.2:g.1058658C>T, NT_167249.1:g.1057956C>T, NT_167246.2:g.1015094C>T, NT_167246.1:g.1020714C>T, NT_167247.2:g.1015157C>T, NT_167247.1:g.1020742C>T

Select item 14841197796.

rs1484119779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:29752715 (GRCh38)
6:29720492 (GRCh37)
Canonical SPDI:: NC_000006.12:29752714:G:C,NC_000006.12:29752714:G:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29752715G>C, NC_000006.12:g.29752715G>T, NC_000006.11:g.29720492G>C, NC_000006.11:g.29720492G>T, NT_113891.3:g.1236555G>C, NT_113891.3:g.1236555G>T, NT_113891.2:g.1236661G>C, NT_113891.2:g.1236661G>T, NT_167248.2:g.1015753G>C, NT_167248.2:g.1015753G>T, NT_167248.1:g.1021349G>C, NT_167248.1:g.1021349G>T, NT_167245.2:g.1015779G>C, NT_167245.2:g.1015779G>T, NT_167245.1:g.1021364G>C, NT_167245.1:g.1021364G>T, NT_167249.2:g.1058938G>C, NT_167249.2:g.1058938G>T, NT_167249.1:g.1058236G>C, NT_167249.1:g.1058236G>T, NT_167246.2:g.1015374G>C, NT_167246.2:g.1015374G>T, NT_167246.1:g.1020994G>C, NT_167246.1:g.1020994G>T, NT_167247.2:g.1015437G>C, NT_167247.2:g.1015437G>T, NT_167247.1:g.1021022G>C, NT_167247.1:g.1021022G>T, XR_001756748.2:n.208G>C, XR_001756748.2:n.208G>T, XR_001756711.2:n.208G>C, XR_001756711.2:n.208G>T, XR_001756674.2:n.208G>C, XR_001756674.2:n.208G>T, XR_001756749.2:n.208G>C, XR_001756749.2:n.208G>T, XR_001756712.2:n.208G>C, XR_001756712.2:n.208G>T, XR_001756675.2:n.208G>C, XR_001756675.2:n.208G>T

Select item 14831999897.

rs1483199989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29751488 (GRCh38)
6:29719265 (GRCh37)
Canonical SPDI:: NC_000006.12:29751487:C:G
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0013/6 (ALFA)
HGVS:: NC_000006.12:g.29751488C>G, NC_000006.11:g.29719265C>G, NT_113891.3:g.1235332C>G, NT_113891.2:g.1235438C>G, NT_167248.2:g.1014530C>G, NT_167248.1:g.1020126C>G, NT_167245.2:g.1014556C>G, NT_167245.1:g.1020141C>G, NT_167249.2:g.1057715C>G, NT_167249.1:g.1057013C>G, NT_167246.2:g.1014151C>G, NT_167246.1:g.1019771C>G, NT_167247.2:g.1014214C>G, NT_167247.1:g.1019799C>G

Select item 14812839998.

rs1481283999 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:29750425 (GRCh38)
6:29718202 (GRCh37)
Canonical SPDI:: NC_000006.12:29750424:TTT:TT
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29750427del, NC_000006.11:g.29718204del, NT_113891.3:g.1234272del, NT_113891.2:g.1234378del, NT_167248.2:g.1013470del, NT_167248.1:g.1019066del, NT_167245.2:g.1013496del, NT_167245.1:g.1019081del, NT_167249.2:g.1056654del, NT_167249.1:g.1055952del, NT_167246.2:g.1013091del, NT_167246.1:g.1018711del, NT_167247.2:g.1013153del, NT_167247.1:g.1018738del

Select item 14811378049.

rs1481137804 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTAGTG>- [Show Flanks]
Chromosome:: 6:29750383 (GRCh38)
6:29718160 (GRCh37)
Canonical SPDI:: NC_000006.12:29750381:GTGTAGTG:G
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.29750383_29750389del, NC_000006.11:g.29718160_29718166del, NT_113891.3:g.1234228_1234234del, NT_113891.2:g.1234334_1234340del, NT_167248.2:g.1013431C>T, NT_167248.2:g.1013426_1013432del, NT_167248.1:g.1019027C>T, NT_167248.1:g.1019022_1019028del, NT_167245.2:g.1013457C>T, NT_167245.2:g.1013452_1013458del, NT_167245.1:g.1019042C>T, NT_167245.1:g.1019037_1019043del, NT_167249.2:g.1056610_1056616del, NT_167249.1:g.1055908_1055914del, NT_167246.2:g.1013052C>T, NT_167246.2:g.1013047_1013053del, NT_167246.1:g.1018672C>T, NT_167246.1:g.1018667_1018673del, NT_167247.2:g.1013109_1013115del, NT_167247.1:g.1018694_1018700del

Select item 148055268410.

rs1480552684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29751452 (GRCh38)
6:29719229 (GRCh37)
Canonical SPDI:: NC_000006.12:29751451:A:G
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29751452A>G, NC_000006.11:g.29719229A>G, NT_113891.3:g.1235296A>G, NT_113891.2:g.1235402A>G, NT_167248.2:g.1014494A>G, NT_167248.1:g.1020090A>G, NT_167245.2:g.1014520A>G, NT_167245.1:g.1020105A>G, NT_167249.2:g.1057679A>G, NT_167249.1:g.1056977A>G, NT_167246.2:g.1014115A>G, NT_167246.1:g.1019735A>G, NT_167247.2:g.1014178A>G, NT_167247.1:g.1019763A>G

Select item 148015843111.

rs1480158431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29750827 (GRCh38)
6:29718604 (GRCh37)
Canonical SPDI:: NC_000006.12:29750826:C:G
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29750827C>G, NC_000006.11:g.29718604C>G, NT_113891.3:g.1234670C>G, NT_113891.2:g.1234776C>G, NT_167248.2:g.1013868C>G, NT_167248.1:g.1019464C>G, NT_167245.2:g.1013894C>G, NT_167245.1:g.1019479C>G, NT_167249.2:g.1057053C>G, NT_167249.1:g.1056351C>G, NT_167246.2:g.1013489C>G, NT_167246.1:g.1019109C>G, NT_167247.2:g.1013553C>G, NT_167247.1:g.1019138C>G, NR_001590.1:n.322G>C

Select item 147822020212.

rs1478220202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:29752092 (GRCh38)
6:29719869 (GRCh37)
Canonical SPDI:: NC_000006.12:29752091:G:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29752092G>T, NC_000006.11:g.29719869G>T, NT_113891.3:g.1235936G>T, NT_113891.2:g.1236042G>T, NT_167248.2:g.1015134G>T, NT_167248.1:g.1020730G>T, NT_167245.2:g.1015160G>T, NT_167245.1:g.1020745G>T, NT_167249.2:g.1058319G>T, NT_167249.1:g.1057617G>T, NT_167246.2:g.1014755G>T, NT_167246.1:g.1020375G>T, NT_167247.2:g.1014818G>T, NT_167247.1:g.1020403G>T

Select item 147821538913.

rs1478215389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29750924 (GRCh38)
6:29718701 (GRCh37)
Canonical SPDI:: NC_000006.12:29750923:G:A
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29750924G>A, NC_000006.11:g.29718701G>A, NT_113891.3:g.1234767G>A, NT_113891.2:g.1234873G>A, NT_167248.2:g.1013965G>A, NT_167248.1:g.1019561G>A, NT_167245.2:g.1013991G>A, NT_167245.1:g.1019576G>A, NT_167249.2:g.1057150G>A, NT_167249.1:g.1056448G>A, NT_167246.2:g.1013586G>A, NT_167246.1:g.1019206G>A, NT_167247.2:g.1013650G>A, NT_167247.1:g.1019235G>A, NR_001590.1:n.225C>T

Select item 147755750914.

rs1477557509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:29752991 (GRCh38)
6:29720768 (GRCh37)
Canonical SPDI:: NC_000006.12:29752990:C:A
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29752991C>A, NC_000006.11:g.29720768C>A, NT_113891.3:g.1236831C>A, NT_113891.2:g.1236937C>A, NT_167248.2:g.1016029C>A, NT_167248.1:g.1021625C>A, NT_167245.2:g.1016055C>A, NT_167245.1:g.1021640C>A, NT_167249.2:g.1059214C>A, NT_167249.1:g.1058512C>A, NT_167246.2:g.1015650C>A, NT_167246.1:g.1021270C>A, NT_167247.2:g.1015713C>A, NT_167247.1:g.1021298C>A

Select item 147672935215.

rs1476729352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:29752919 (GRCh38)
6:29720696 (GRCh37)
Canonical SPDI:: NC_000006.12:29752918:C:A
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.29752919C>A, NC_000006.11:g.29720696C>A, NT_113891.3:g.1236759C>A, NT_113891.2:g.1236865C>A, NT_167248.2:g.1015957C>A, NT_167248.1:g.1021553C>A, NT_167245.2:g.1015983C>A, NT_167245.1:g.1021568C>A, NT_167249.2:g.1059142C>A, NT_167249.1:g.1058440C>A, NT_167246.2:g.1015578C>A, NT_167246.1:g.1021198C>A, NT_167247.2:g.1015641C>A, NT_167247.1:g.1021226C>A, XR_001756748.2:n.412C>A, XR_001756748.1:n.59C>A, XR_001756711.2:n.412C>A, XR_001756711.1:n.59C>A, XR_001756674.2:n.412C>A, XR_001756674.1:n.59C>A, XR_001756749.2:n.412C>A, XR_001756749.1:n.78C>A, XR_001756712.2:n.412C>A, XR_001756712.1:n.78C>A, XR_001756675.2:n.412C>A, XR_001756675.1:n.78C>A

Select item 147667070016.

rs1476670700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29752946 (GRCh38)
6:29720723 (GRCh37)
Canonical SPDI:: NC_000006.12:29752945:C:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.29752946C>T, NC_000006.11:g.29720723C>T, NT_113891.3:g.1236786C>T, NT_113891.2:g.1236892C>T, NT_167248.2:g.1015984C>T, NT_167248.1:g.1021580C>T, NT_167245.2:g.1016010C>T, NT_167245.1:g.1021595C>T, NT_167249.2:g.1059169C>T, NT_167249.1:g.1058467C>T, NT_167246.2:g.1015605C>T, NT_167246.1:g.1021225C>T, NT_167247.2:g.1015668C>T, NT_167247.1:g.1021253C>T

Select item 147491744317.

rs1474917443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:29752328 (GRCh38)
6:29720105 (GRCh37)
Canonical SPDI:: NC_000006.12:29752327:C:G,NC_000006.12:29752327:C:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29752328C>G, NC_000006.12:g.29752328C>T, NC_000006.11:g.29720105C>G, NC_000006.11:g.29720105C>T, NT_113891.3:g.1236172C>G, NT_113891.3:g.1236172C>T, NT_113891.2:g.1236278C>G, NT_113891.2:g.1236278C>T, NT_167248.2:g.1015370C>G, NT_167248.2:g.1015370C>T, NT_167248.1:g.1020966C>G, NT_167248.1:g.1020966C>T, NT_167245.2:g.1015396C>G, NT_167245.2:g.1015396C>T, NT_167245.1:g.1020981C>G, NT_167245.1:g.1020981C>T, NT_167249.2:g.1058555C>G, NT_167249.2:g.1058555C>T, NT_167249.1:g.1057853C>G, NT_167249.1:g.1057853C>T, NT_167246.2:g.1014991C>G, NT_167246.2:g.1014991C>T, NT_167246.1:g.1020611C>G, NT_167246.1:g.1020611C>T, NT_167247.2:g.1015054C>G, NT_167247.2:g.1015054C>T, NT_167247.1:g.1020639C>G, NT_167247.1:g.1020639C>T

Select item 147341110718.

rs1473411107 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:29750922 (GRCh38)
6:29718699 (GRCh37)
Canonical SPDI:: NC_000006.12:29750921:T:
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29750922del, NC_000006.11:g.29718699del, NT_113891.3:g.1234765del, NT_113891.2:g.1234871del, NT_167248.2:g.1013963del, NT_167248.1:g.1019559del, NT_167245.2:g.1013989del, NT_167245.1:g.1019574del, NT_167249.2:g.1057148del, NT_167249.1:g.1056446del, NT_167246.2:g.1013584del, NT_167246.1:g.1019204del, NT_167247.2:g.1013648del, NT_167247.1:g.1019233del, NR_001590.1:n.227del

Select item 147064547819.

rs1470645478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:29750452 (GRCh38)
6:29718229 (GRCh37)
Canonical SPDI:: NC_000006.12:29750451:G:C
Gene:: HLA-F-AS1 (Varview), IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.29750452G>C, NC_000006.11:g.29718229G>C, NT_113891.3:g.1234297G>C, NT_113891.2:g.1234403G>C, NT_167248.2:g.1013495G>C, NT_167248.1:g.1019091G>C, NT_167245.2:g.1013521G>C, NT_167245.1:g.1019106G>C, NT_167249.2:g.1056679G>C, NT_167249.1:g.1055977G>C, NT_167246.2:g.1013116G>C, NT_167246.1:g.1018736G>C, NT_167247.2:g.1013178G>C, NT_167247.1:g.1018763G>C

Select item 146855058520.

rs1468550585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:29753002 (GRCh38)
6:29720779 (GRCh37)
Canonical SPDI:: NC_000006.12:29753001:G:T
Gene:: IFITM4P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29753002G>T, NC_000006.11:g.29720779G>T, NT_113891.3:g.1236842G>T, NT_113891.2:g.1236948G>T, NT_167248.2:g.1016040G>T, NT_167248.1:g.1021636G>T, NT_167245.2:g.1016066G>T, NT_167245.1:g.1021651G>T, NT_167249.2:g.1059225G>T, NT_167249.1:g.1058523G>T, NT_167246.2:g.1015661G>T, NT_167246.1:g.1021281G>T, NT_167247.2:g.1015724G>T, NT_167247.1:g.1021309G>T

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