SNP Links for Gene (Select 345611) - SNP

Links from Gene

Items: 1 to 20 of 12994

<< First< Prev

Page of 650

Next >Last >>

Select item 14915860251.

rs1491586025 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:150861287 (GRCh38)
5:150240849 (GRCh37)
Canonical SPDI:: NC_000005.10:150861286:CA:
Gene:: IRGM (Varview), LOC124901113 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.150861287_150861288del, NC_000005.9:g.150240849_150240850del, NG_027809.2:g.19765_19766del, XR_007059000.1:n.1290_1291del

Select item 14915409442.

rs1491540944 has merged into rs922246775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:150849616 (GRCh38)
5:150229178 (GRCh37)
Canonical SPDI:: NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150849605:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
Gene:: IRGM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.150849616_150849625del, NC_000005.10:g.150849617_150849625del, NC_000005.10:g.150849618_150849625del, NC_000005.10:g.150849619_150849625del, NC_000005.10:g.150849621_150849625del, NC_000005.10:g.150849622_150849625del, NC_000005.10:g.150849623_150849625del, NC_000005.10:g.150849624_150849625del, NC_000005.10:g.150849625del, NC_000005.10:g.150849625dup, NC_000005.10:g.150849624_150849625dup, NC_000005.10:g.150849623_150849625dup, NC_000005.10:g.150849622_150849625dup, NC_000005.10:g.150849621_150849625dup, NC_000005.10:g.150849620_150849625dup, NC_000005.10:g.150849619_150849625dup, NC_000005.10:g.150849606_150849625T[27]GTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150229178_150229187del, NC_000005.9:g.150229179_150229187del, NC_000005.9:g.150229180_150229187del, NC_000005.9:g.150229181_150229187del, NC_000005.9:g.150229183_150229187del, NC_000005.9:g.150229184_150229187del, NC_000005.9:g.150229185_150229187del, NC_000005.9:g.150229186_150229187del, NC_000005.9:g.150229187del, NC_000005.9:g.150229187dup, NC_000005.9:g.150229186_150229187dup, NC_000005.9:g.150229185_150229187dup, NC_000005.9:g.150229184_150229187dup, NC_000005.9:g.150229183_150229187dup, NC_000005.9:g.150229182_150229187dup, NC_000005.9:g.150229181_150229187dup, NC_000005.9:g.150229168_150229187T[27]GTTTTTTTTTTTTTTTTTTTT[1], NG_027809.2:g.8094_8103del, NG_027809.2:g.8095_8103del, NG_027809.2:g.8096_8103del, NG_027809.2:g.8097_8103del, NG_027809.2:g.8099_8103del, NG_027809.2:g.8100_8103del, NG_027809.2:g.8101_8103del, NG_027809.2:g.8102_8103del, NG_027809.2:g.8103del, NG_027809.2:g.8103dup, NG_027809.2:g.8102_8103dup, NG_027809.2:g.8101_8103dup, NG_027809.2:g.8100_8103dup, NG_027809.2:g.8099_8103dup, NG_027809.2:g.8098_8103dup, NG_027809.2:g.8097_8103dup, NG_027809.2:g.8084_8103T[27]GTTTTTTTTTTTTTTTTTTTT[1]

Select item 14912684003.

rs1491268400 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:150878171 (GRCh38)
5:150257733 (GRCh37)
Canonical SPDI:: NC_000005.10:150878170:CT:
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.150878171_150878172del, NC_000005.9:g.150257733_150257734del, NG_027809.2:g.36649_36650del

Select item 14911618914.

rs1491161891 has merged into rs35792893 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:150878177 (GRCh38)
5:150257739 (GRCh37)
Canonical SPDI:: NC_000005.10:150878171:TTTTTTTTTT:TTTTT,NC_000005.10:150878171:TTTTTTTTTT:TTTTTTT,NC_000005.10:150878171:TTTTTTTTTT:TTTTTTTT,NC_000005.10:150878171:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:150878171:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150878171:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: IRGM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.05618/250 (Estonian)
-=0.070388/261 (TWINSUK)
-=0.078101/301 (ALSPAC)
-=0.225566/59705 (TOPMED)
-=0.304313/1524 (1000Genomes)
-=0.392467/719 (Korea1K)
-=0.449074/97 (Vietnamese)
HGVS:: NC_000005.10:g.150878177_150878181del, NC_000005.10:g.150878179_150878181del, NC_000005.10:g.150878180_150878181del, NC_000005.10:g.150878181del, NC_000005.10:g.150878181dup, NC_000005.10:g.150878180_150878181dup, NC_000005.9:g.150257739_150257743del, NC_000005.9:g.150257741_150257743del, NC_000005.9:g.150257742_150257743del, NC_000005.9:g.150257743del, NC_000005.9:g.150257743dup, NC_000005.9:g.150257742_150257743dup, NG_027809.2:g.36655_36659del, NG_027809.2:g.36657_36659del, NG_027809.2:g.36658_36659del, NG_027809.2:g.36659del, NG_027809.2:g.36659dup, NG_027809.2:g.36658_36659dup

Select item 14911451385.

rs1491145138 has merged into rs112293233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 5:150897883 (GRCh38)
5:150277445 (GRCh37)
Canonical SPDI:: NC_000005.10:150897873:ATATATATATA:ATATATATA,NC_000005.10:150897873:ATATATATATA:ATATATATATATA,NC_000005.10:150897873:ATATATATATA:ATATATATATATATA
Gene:: ZNF300 (Varview), IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0.012609/194 (ALFA)
AT=0.028333/17 (NorthernSweden)
AT=0.042184/5901 (GnomAD)
AT=0.04308/193 (Estonian)
AT=0.04509/45 (GoNL)
AT=0.05/2 (GENOME_DK)
AT=0.060275/302 (1000Genomes)
AT=0.1/21 (Vietnamese)
AT=0.132635/2223 (TOMMO)
HGVS:: NC_000005.10:g.150897875TA[4], NC_000005.10:g.150897875TA[6], NC_000005.10:g.150897875TA[7], NC_000005.9:g.150277437TA[4], NC_000005.9:g.150277437TA[6], NC_000005.9:g.150277437TA[7], NG_027809.2:g.56353TA[4], NG_027809.2:g.56353TA[6], NG_027809.2:g.56353TA[7], NG_016866.1:g.12101AT[4], NG_016866.1:g.12101AT[6], NG_016866.1:g.12101AT[7]

Select item 14910746176.

rs1491074617 has merged into rs201994601 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 5:150849605 (GRCh38)
5:150229167 (GRCh37)
Canonical SPDI:: NC_000005.10:150849599:TCTCTCT:TCTCT,NC_000005.10:150849599:TCTCTCT:TCTCTCTCT,NC_000005.10:150849599:TCTCTCT:TCTCTCTCTCT,NC_000005.10:150849599:TCTCTCT:TCTCTCTCTCTCT
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCT=0./0 (ALFA)
TCTC=0.00276/42 (TOMMO)
CTCT=0.09196/341 (TWINSUK)
CTCT=0.10846/418 (ALSPAC)
HGVS:: NC_000005.10:g.150849601CT[2], NC_000005.10:g.150849601CT[4], NC_000005.10:g.150849601CT[5], NC_000005.10:g.150849601CT[6], NC_000005.9:g.150229163CT[2], NC_000005.9:g.150229163CT[4], NC_000005.9:g.150229163CT[5], NC_000005.9:g.150229163CT[6], NG_027809.2:g.8079CT[2], NG_027809.2:g.8079CT[4], NG_027809.2:g.8079CT[5], NG_027809.2:g.8079CT[6]

Select item 14910710847.

rs1491071084 has merged into rs34123150 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:150892218 (GRCh38)
5:150271780 (GRCh37)
Canonical SPDI:: NC_000005.10:150892209:TTTTTTTTTTT:TTTTTTTT,NC_000005.10:150892209:TTTTTTTTTTT:TTTTTTTTT,NC_000005.10:150892209:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150892209:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150892209:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: IRGM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.006004/9 (1000Genomes)
-=0.051667/31 (NorthernSweden)
-=0.065264/242 (TWINSUK)
-=0.070317/271 (ALSPAC)
-=0.125/5 (GENOME_DK)
-=0.21549/57038 (TOPMED)
HGVS:: NC_000005.10:g.150892218_150892220del, NC_000005.10:g.150892219_150892220del, NC_000005.10:g.150892220del, NC_000005.10:g.150892220dup, NC_000005.10:g.150892219_150892220dup, NC_000005.9:g.150271780_150271782del, NC_000005.9:g.150271781_150271782del, NC_000005.9:g.150271782del, NC_000005.9:g.150271782dup, NC_000005.9:g.150271781_150271782dup, NG_027809.2:g.50696_50698del, NG_027809.2:g.50697_50698del, NG_027809.2:g.50698del, NG_027809.2:g.50698dup, NG_027809.2:g.50697_50698dup

Select item 14910249978.

rs1491024997 has merged into rs75460329 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:150887668 (GRCh38)
5:150267230 (GRCh37)
Canonical SPDI:: NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150887658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IRGM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.150887668_150887674del, NC_000005.10:g.150887669_150887674del, NC_000005.10:g.150887671_150887674del, NC_000005.10:g.150887672_150887674del, NC_000005.10:g.150887673_150887674del, NC_000005.10:g.150887674del, NC_000005.10:g.150887674dup, NC_000005.10:g.150887673_150887674dup, NC_000005.10:g.150887672_150887674dup, NC_000005.10:g.150887671_150887674dup, NC_000005.10:g.150887670_150887674dup, NC_000005.10:g.150887669_150887674dup, NC_000005.10:g.150887666_150887674dup, NC_000005.10:g.150887665_150887674dup, NC_000005.9:g.150267230_150267236del, NC_000005.9:g.150267231_150267236del, NC_000005.9:g.150267233_150267236del, NC_000005.9:g.150267234_150267236del, NC_000005.9:g.150267235_150267236del, NC_000005.9:g.150267236del, NC_000005.9:g.150267236dup, NC_000005.9:g.150267235_150267236dup, NC_000005.9:g.150267234_150267236dup, NC_000005.9:g.150267233_150267236dup, NC_000005.9:g.150267232_150267236dup, NC_000005.9:g.150267231_150267236dup, NC_000005.9:g.150267228_150267236dup, NC_000005.9:g.150267227_150267236dup, NG_027809.2:g.46146_46152del, NG_027809.2:g.46147_46152del, NG_027809.2:g.46149_46152del, NG_027809.2:g.46150_46152del, NG_027809.2:g.46151_46152del, NG_027809.2:g.46152del, NG_027809.2:g.46152dup, NG_027809.2:g.46151_46152dup, NG_027809.2:g.46150_46152dup, NG_027809.2:g.46149_46152dup, NG_027809.2:g.46148_46152dup, NG_027809.2:g.46147_46152dup, NG_027809.2:g.46144_46152dup, NG_027809.2:g.46143_46152dup

Select item 14910017479.

rs1491001747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:150861375 (GRCh38)
5:150240937 (GRCh37)
Canonical SPDI:: NC_000005.10:150861374:A:C
Gene:: IRGM (Varview), LOC124901113 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.150861375A>C, NC_000005.9:g.150240937A>C, NG_027809.2:g.19853A>C

Select item 149091153510.

rs1490911535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:150895487 (GRCh38)
5:150275049 (GRCh37)
Canonical SPDI:: NC_000005.10:150895486:C:A
Gene:: ZNF300 (Varview), IRGM (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.150895487C>A, NC_000005.9:g.150275049C>A, NG_027809.2:g.53965C>A, NG_016866.1:g.14497G>T, NM_052860.4:c.1752G>T, NM_052860.3:c.1752G>T, NM_052860.2:c.1752G>T, NM_001172831.3:c.1800G>T, NM_001172831.2:c.1800G>T, NM_001172831.1:c.1800G>T, NM_001172832.3:c.1644G>T, NM_001172832.2:c.1644G>T, NM_001172832.1:c.1644G>T, XM_047417874.1:c.1767G>T, NP_443092.1:p.Lys584Asn, NP_001166302.1:p.Lys600Asn, NP_001166303.1:p.Lys548Asn, XP_047273830.1:p.Lys589Asn

Select item 149089625211.

rs1490896252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150893331 (GRCh38)
5:150272893 (GRCh37)
Canonical SPDI:: NC_000005.10:150893330:C:T
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.150893331C>T, NC_000005.9:g.150272893C>T, NG_027809.2:g.51809C>T, NG_016866.1:g.16653G>A

Select item 149089588912.

rs1490895889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150896328 (GRCh38)
5:150275890 (GRCh37)
Canonical SPDI:: NC_000005.10:150896327:T:C
Gene:: ZNF300 (Varview), IRGM (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150896328T>C, NC_000005.9:g.150275890T>C, NG_027809.2:g.54806T>C, NG_016866.1:g.13656A>G, NM_052860.4:c.911A>G, NM_052860.3:c.911A>G, NM_052860.2:c.911A>G, NM_001172831.3:c.959A>G, NM_001172831.2:c.959A>G, NM_001172831.1:c.959A>G, NM_001172832.3:c.803A>G, NM_001172832.2:c.803A>G, NM_001172832.1:c.803A>G, XM_047417874.1:c.926A>G, NP_443092.1:p.Lys304Arg, NP_001166302.1:p.Lys320Arg, NP_001166303.1:p.Lys268Arg, XP_047273830.1:p.Lys309Arg

Select item 149088868913.

rs1490888689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150886360 (GRCh38)
5:150265922 (GRCh37)
Canonical SPDI:: NC_000005.10:150886359:C:T
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.150886360C>T, NC_000005.9:g.150265922C>T, NG_027809.2:g.44838C>T

Select item 149085796714.

rs1490857967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150884271 (GRCh38)
5:150263833 (GRCh37)
Canonical SPDI:: NC_000005.10:150884270:T:C
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.150884271T>C, NC_000005.9:g.150263833T>C, NG_027809.2:g.42749T>C

Select item 149080772415.

rs1490807724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150850147 (GRCh38)
5:150229709 (GRCh37)
Canonical SPDI:: NC_000005.10:150850146:G:A
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150850147G>A, NC_000005.9:g.150229709G>A, NG_027809.2:g.8625G>A

Select item 149062747116.

rs1490627471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:150854401 (GRCh38)
5:150233963 (GRCh37)
Canonical SPDI:: NC_000005.10:150854400:G:T
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.150854401G>T, NC_000005.9:g.150233963G>T, NG_027809.2:g.12879G>T

Select item 149061297517.

rs1490612975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150853378 (GRCh38)
5:150232940 (GRCh37)
Canonical SPDI:: NC_000005.10:150853377:C:T
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.150853378C>T, NC_000005.9:g.150232940C>T, NG_027809.2:g.11856C>T

Select item 149055417318.

rs1490554173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150869286 (GRCh38)
5:150248848 (GRCh37)
Canonical SPDI:: NC_000005.10:150869285:G:A
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.150869286G>A, NC_000005.9:g.150248848G>A, NG_027809.2:g.27764G>A

Select item 149051033719.

rs1490510337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:150860915 (GRCh38)
5:150240477 (GRCh37)
Canonical SPDI:: NC_000005.10:150860914:G:A,NC_000005.10:150860914:G:C
Gene:: IRGM (Varview), LOC124901113 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150860915G>A, NC_000005.10:g.150860915G>C, NC_000005.9:g.150240477G>A, NC_000005.9:g.150240477G>C, NG_027809.2:g.19393G>A, NG_027809.2:g.19393G>C

Select item 149044618620.

rs1490446186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:150877477 (GRCh38)
5:150257039 (GRCh37)
Canonical SPDI:: NC_000005.10:150877476:G:A,NC_000005.10:150877476:G:T
Gene:: IRGM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.150877477G>A, NC_000005.10:g.150877477G>T, NC_000005.9:g.150257039G>A, NC_000005.9:g.150257039G>T, NG_027809.2:g.35955G>A, NG_027809.2:g.35955G>T

<< First< Prev

Page of 650

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 12994

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity