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Select item 14911326241.

rs1491132624 has merged into rs1037254707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:48778883 (GRCh38)
12:49172666 (GRCh37)
Canonical SPDI:: NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48778872:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADCY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48778883_48778898del, NC_000012.12:g.48778885_48778898del, NC_000012.12:g.48778886_48778898del, NC_000012.12:g.48778887_48778898del, NC_000012.12:g.48778888_48778898del, NC_000012.12:g.48778889_48778898del, NC_000012.12:g.48778890_48778898del, NC_000012.12:g.48778891_48778898del, NC_000012.12:g.48778892_48778898del, NC_000012.12:g.48778893_48778898del, NC_000012.12:g.48778894_48778898del, NC_000012.12:g.48778895_48778898del, NC_000012.12:g.48778896_48778898del, NC_000012.12:g.48778897_48778898del, NC_000012.12:g.48778898del, NC_000012.12:g.48778898dup, NC_000012.12:g.48778897_48778898dup, NC_000012.12:g.48778896_48778898dup, NC_000012.12:g.48778895_48778898dup, NC_000012.12:g.48778894_48778898dup, NC_000012.12:g.48778893_48778898dup, NC_000012.12:g.48778892_48778898dup, NC_000012.12:g.48778891_48778898dup, NC_000012.12:g.48778890_48778898dup, NC_000012.12:g.48778889_48778898dup, NC_000012.12:g.48778888_48778898dup, NC_000012.12:g.48778887_48778898dup, NC_000012.12:g.48778886_48778898dup, NC_000012.12:g.48778885_48778898dup, NC_000012.12:g.48778884_48778898dup, NC_000012.12:g.48778883_48778898dup, NC_000012.12:g.48778882_48778898dup, NC_000012.12:g.48778881_48778898dup, NC_000012.12:g.48778880_48778898dup, NC_000012.12:g.48778879_48778898dup, NC_000012.12:g.48778877_48778898dup, NC_000012.12:g.48778875_48778898dup, NC_000012.12:g.48778873_48778898dup, NC_000012.12:g.48778898_48778899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.48778898_48778899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.49172666_49172681del, NC_000012.11:g.49172668_49172681del, NC_000012.11:g.49172669_49172681del, NC_000012.11:g.49172670_49172681del, NC_000012.11:g.49172671_49172681del, NC_000012.11:g.49172672_49172681del, NC_000012.11:g.49172673_49172681del, NC_000012.11:g.49172674_49172681del, NC_000012.11:g.49172675_49172681del, NC_000012.11:g.49172676_49172681del, NC_000012.11:g.49172677_49172681del, NC_000012.11:g.49172678_49172681del, NC_000012.11:g.49172679_49172681del, NC_000012.11:g.49172680_49172681del, NC_000012.11:g.49172681del, NC_000012.11:g.49172681dup, NC_000012.11:g.49172680_49172681dup, NC_000012.11:g.49172679_49172681dup, NC_000012.11:g.49172678_49172681dup, NC_000012.11:g.49172677_49172681dup, NC_000012.11:g.49172676_49172681dup, NC_000012.11:g.49172675_49172681dup, NC_000012.11:g.49172674_49172681dup, NC_000012.11:g.49172673_49172681dup, NC_000012.11:g.49172672_49172681dup, NC_000012.11:g.49172671_49172681dup, NC_000012.11:g.49172670_49172681dup, NC_000012.11:g.49172669_49172681dup, NC_000012.11:g.49172668_49172681dup, NC_000012.11:g.49172667_49172681dup, NC_000012.11:g.49172666_49172681dup, NC_000012.11:g.49172665_49172681dup, NC_000012.11:g.49172664_49172681dup, NC_000012.11:g.49172663_49172681dup, NC_000012.11:g.49172662_49172681dup, NC_000012.11:g.49172660_49172681dup, NC_000012.11:g.49172658_49172681dup, NC_000012.11:g.49172656_49172681dup, NC_000012.11:g.49172681_49172682insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.49172681_49172682insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042166.1:g.15209_15224del, NG_042166.1:g.15211_15224del, NG_042166.1:g.15212_15224del, NG_042166.1:g.15213_15224del, NG_042166.1:g.15214_15224del, NG_042166.1:g.15215_15224del, NG_042166.1:g.15216_15224del, NG_042166.1:g.15217_15224del, NG_042166.1:g.15218_15224del, NG_042166.1:g.15219_15224del, NG_042166.1:g.15220_15224del, NG_042166.1:g.15221_15224del, NG_042166.1:g.15222_15224del, NG_042166.1:g.15223_15224del, NG_042166.1:g.15224del, NG_042166.1:g.15224dup, NG_042166.1:g.15223_15224dup, NG_042166.1:g.15222_15224dup, NG_042166.1:g.15221_15224dup, NG_042166.1:g.15220_15224dup, NG_042166.1:g.15219_15224dup, NG_042166.1:g.15218_15224dup, NG_042166.1:g.15217_15224dup, NG_042166.1:g.15216_15224dup, NG_042166.1:g.15215_15224dup, NG_042166.1:g.15214_15224dup, NG_042166.1:g.15213_15224dup, NG_042166.1:g.15212_15224dup, NG_042166.1:g.15211_15224dup, NG_042166.1:g.15210_15224dup, NG_042166.1:g.15209_15224dup, NG_042166.1:g.15208_15224dup, NG_042166.1:g.15207_15224dup, NG_042166.1:g.15206_15224dup, NG_042166.1:g.15205_15224dup, NG_042166.1:g.15203_15224dup, NG_042166.1:g.15201_15224dup, NG_042166.1:g.15199_15224dup, NG_042166.1:g.15224_15225insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042166.1:g.15224_15225insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14908327162.

rs1490832716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:48778466 (GRCh38)
12:49172249 (GRCh37)
Canonical SPDI:: NC_000012.12:48778465:T:G
Gene:: ADCY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48778466T>G, NC_000012.11:g.49172249T>G, NG_042166.1:g.15631A>C

Select item 14907935073.

rs1490793507 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGCCCC [Show Flanks]
Chromosome:: 12:48788938 (GRCh38)
12:49182722 (GRCh37)
Canonical SPDI:: NC_000012.12:48788938:CCGCCCCGCCGCCCC:CCGCCCCGCCGCCCCGCCGCCCC
Gene:: ADCY6 (Varview), ADCY6-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCGCCCCGCCGCCCCGCCGCCCC=0./0 (ALFA)
HGVS:: NC_000012.12:g.48788946_48788953dup, NC_000012.11:g.49182729_49182736dup, NG_042166.1:g.5151_5158dup, NM_015270.5:c.-45_-38dup, NM_015270.4:c.-45_-38dup, NM_001390830.1:c.-45_-38dup, NM_020983.2:c.-45_-38dup

Select item 14906032134.

rs1490603213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48767314 (GRCh38)
12:49161097 (GRCh37)
Canonical SPDI:: NC_000012.12:48767313:G:A
Gene:: ADCY6 (Varview), TEX49 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.48767314G>A, NC_000012.11:g.49161097G>A, NG_042166.1:g.26783C>T, NM_015270.5:c.*1277C>T, NM_015270.4:c.*1277C>T, NM_015270.3:c.*1277C>T, NM_001390831.1:c.*1277C>T, NM_001390830.1:c.*1277C>T, XM_006719210.5:c.*1277C>T, XM_006719210.2:c.*1277C>T, XM_006719210.1:c.*1277C>T, XM_017018743.2:c.*1277C>T, XM_017018743.1:c.*1277C>T, NM_020983.2:c.*1277C>T, XM_047428173.1:c.*1277C>T, XM_047428171.1:c.*1277C>T, XM_047428172.1:c.*1277C>T

Select item 14905839855.

rs1490583985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:48769762 (GRCh38)
12:49163545 (GRCh37)
Canonical SPDI:: NC_000012.12:48769761:T:A,NC_000012.12:48769761:T:C,NC_000012.12:48769761:T:G
Gene:: ADCY6 (Varview), TEX49 (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=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.48769762T>A, NC_000012.12:g.48769762T>C, NC_000012.12:g.48769762T>G, NC_000012.11:g.49163545T>A, NC_000012.11:g.49163545T>C, NC_000012.11:g.49163545T>G, NG_042166.1:g.24335A>T, NG_042166.1:g.24335A>G, NG_042166.1:g.24335A>C

Select item 14905697526.

rs1490569752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:48770603 (GRCh38)
12:49164386 (GRCh37)
Canonical SPDI:: NC_000012.12:48770602:A:C
Gene:: ADCY6 (Varview), TEX49 (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)
HGVS:: NC_000012.12:g.48770603A>C, NC_000012.11:g.49164386A>C, NG_042166.1:g.23494T>G

Select item 14905255527.

rs1490525552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48787390 (GRCh38)
12:49181173 (GRCh37)
Canonical SPDI:: NC_000012.12:48787389:A:T
Gene:: ADCY6 (Varview), ADCY6-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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_000012.12:g.48787390A>T, NC_000012.11:g.49181173A>T, NG_042166.1:g.6707T>A, XM_047428173.1:c.-2836T>A

Select item 14904288928.

rs1490428892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48769884 (GRCh38)
12:49163667 (GRCh37)
Canonical SPDI:: NC_000012.12:48769883:C:A
Gene:: ADCY6 (Varview), TEX49 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48769884C>A, NC_000012.11:g.49163667C>A, NG_042166.1:g.24213G>T

Select item 14903930279.

rs1490393027 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:48774373 (GRCh38)
12:49168157 (GRCh37)
Canonical SPDI:: NC_000012.12:48774373:GG:GGG
Gene:: ADCY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48774375dup, NC_000012.11:g.49168158dup, NG_042166.1:g.19723dup

Select item 149022865710.

rs1490228657 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:48773784 (GRCh38)
12:49167567 (GRCh37)
Canonical SPDI:: NC_000012.12:48773783:CCC:CC
Gene:: ADCY6 (Varview), MIR4701 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000111/1 (ALFA)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48773786del, NC_000012.11:g.49167569del, NG_042166.1:g.20313del

Select item 149008555411.

rs1490085554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:48767599 (GRCh38)
12:49161382 (GRCh37)
Canonical SPDI:: NC_000012.12:48767598:G:C
Gene:: ADCY6 (Varview), TEX49 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48767599G>C, NC_000012.11:g.49161382G>C, NG_042166.1:g.26498C>G, NM_015270.5:c.*992C>G, NM_015270.4:c.*992C>G, NM_015270.3:c.*992C>G, NM_001390831.1:c.*992C>G, NM_001390830.1:c.*992C>G, XM_006719210.5:c.*992C>G, XM_006719210.4:c.*992C>G, XM_006719210.3:c.*992C>G, XM_006719210.2:c.*992C>G, XM_006719210.1:c.*992C>G, XM_017018743.2:c.*992C>G, XM_017018743.1:c.*992C>G, NM_020983.2:c.*992C>G, XM_047428173.1:c.*992C>G, XM_047428171.1:c.*992C>G, XM_047428172.1:c.*992C>G

Select item 149005657312.

rs1490056573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48785512 (GRCh38)
12:49179295 (GRCh37)
Canonical SPDI:: NC_000012.12:48785511:G:A
Gene:: ADCY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000531/9 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.48785512G>A, NC_000012.11:g.49179295G>A, NG_042166.1:g.8585C>T, XM_047428173.1:c.-958C>T

Select item 148994604313.

rs1489946043 has merged into rs111727567 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:48769428 (GRCh38)
12:49163211 (GRCh37)
Canonical SPDI:: NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48769413:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADCY6 (Varview), TEX49 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.48769428_48769434del, NC_000012.12:g.48769429_48769434del, NC_000012.12:g.48769430_48769434del, NC_000012.12:g.48769431_48769434del, NC_000012.12:g.48769432_48769434del, NC_000012.12:g.48769433_48769434del, NC_000012.12:g.48769434del, NC_000012.12:g.48769434dup, NC_000012.12:g.48769433_48769434dup, NC_000012.12:g.48769432_48769434dup, NC_000012.12:g.48769431_48769434dup, NC_000012.12:g.48769414_48769434dup, NC_000012.12:g.48769434_48769435insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.49163211_49163217del, NC_000012.11:g.49163212_49163217del, NC_000012.11:g.49163213_49163217del, NC_000012.11:g.49163214_49163217del, NC_000012.11:g.49163215_49163217del, NC_000012.11:g.49163216_49163217del, NC_000012.11:g.49163217del, NC_000012.11:g.49163217dup, NC_000012.11:g.49163216_49163217dup, NC_000012.11:g.49163215_49163217dup, NC_000012.11:g.49163214_49163217dup, NC_000012.11:g.49163197_49163217dup, NC_000012.11:g.49163217_49163218insAAAAAAAAAAAAAAAAAAAAAAA, NG_042166.1:g.24677_24683del, NG_042166.1:g.24678_24683del, NG_042166.1:g.24679_24683del, NG_042166.1:g.24680_24683del, NG_042166.1:g.24681_24683del, NG_042166.1:g.24682_24683del, NG_042166.1:g.24683del, NG_042166.1:g.24683dup, NG_042166.1:g.24682_24683dup, NG_042166.1:g.24681_24683dup, NG_042166.1:g.24680_24683dup, NG_042166.1:g.24663_24683dup, NG_042166.1:g.24683_24684insTTTTTTTTTTTTTTTTTTTTTTT

Select item 148986234214.

rs1489862342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48785306 (GRCh38)
12:49179089 (GRCh37)
Canonical SPDI:: NC_000012.12:48785305:C:T
Gene:: ADCY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48785306C>T, NC_000012.11:g.49179089C>T, NG_042166.1:g.8791G>A, XM_047428173.1:c.-752G>A

Select item 148968348115.

rs1489683481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:48773994 (GRCh38)
12:49167777 (GRCh37)
Canonical SPDI:: NC_000012.12:48773993:C:G,NC_000012.12:48773993:C:T
Gene:: ADCY6 (Varview), MIR4701 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48773994C>G, NC_000012.12:g.48773994C>T, NC_000012.11:g.49167777C>G, NC_000012.11:g.49167777C>T, NG_042166.1:g.20103G>C, NG_042166.1:g.20103G>A, NM_015270.5:c.2388G>C, NM_015270.5:c.2388G>A, NM_015270.4:c.2388G>C, NM_015270.4:c.2388G>A, NM_015270.3:c.2388G>C, NM_015270.3:c.2388G>A, NM_001390831.1:c.2388G>C, NM_001390831.1:c.2388G>A, XM_006719210.5:c.2388G>C, XM_006719210.5:c.2388G>A, XM_006719210.4:c.2388G>C, XM_006719210.4:c.2388G>A, XM_006719210.3:c.2388G>C, XM_006719210.3:c.2388G>A, XM_006719210.2:c.2388G>C, XM_006719210.2:c.2388G>A, XM_006719210.1:c.2388G>C, XM_006719210.1:c.2388G>A, XM_017018743.2:c.2085G>C, XM_017018743.2:c.2085G>A, XM_017018743.1:c.2085G>C, XM_017018743.1:c.2085G>A, XM_047428173.1:c.2388G>C, XM_047428173.1:c.2388G>A, XM_047428171.1:c.2388G>C, XM_047428171.1:c.2388G>A, XM_047428172.1:c.2388G>C, XM_047428172.1:c.2388G>A

Select item 148931750716.

rs1489317507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48780615 (GRCh38)
12:49174398 (GRCh37)
Canonical SPDI:: NC_000012.12:48780614:T:C
Gene:: ADCY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48780615T>C, NC_000012.11:g.49174398T>C, NG_042166.1:g.13482A>G

Select item 148921587417.

rs1489215874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48784069 (GRCh38)
12:49177852 (GRCh37)
Canonical SPDI:: NC_000012.12:48784068:G:A
Gene:: ADCY6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.48784069G>A, NC_000012.11:g.49177852G>A, NG_042166.1:g.10028C>T, NM_001390831.1:c.-635C>T, XM_017018743.2:c.-635C>T, XM_017018743.1:c.-635C>T

Select item 148915477218.

rs1489154772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48789371 (GRCh38)
12:49183154 (GRCh37)
Canonical SPDI:: NC_000012.12:48789370:C:T
Gene:: ADCY6 (Varview), ADCY6-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48789371C>T, NC_000012.11:g.49183154C>T, NG_042166.1:g.4726G>A

Select item 148914094319.

rs1489140943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48776528 (GRCh38)
12:49170311 (GRCh37)
Canonical SPDI:: NC_000012.12:48776527:G:A
Gene:: ADCY6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48776528G>A, NC_000012.11:g.49170311G>A, NG_042166.1:g.17569C>T, NM_015270.5:c.1435C>T, NM_015270.4:c.1435C>T, NM_015270.3:c.1435C>T, NM_001390831.1:c.1435C>T, NM_001390830.1:c.1435C>T, XM_006719210.5:c.1435C>T, XM_006719210.4:c.1435C>T, XM_006719210.3:c.1435C>T, XM_006719210.2:c.1435C>T, XM_006719210.1:c.1435C>T, XM_017018743.2:c.1435C>T, XM_017018743.1:c.1435C>T, NM_020983.2:c.1435C>T, XM_047428173.1:c.1435C>T, XM_047428171.1:c.1435C>T, XM_047428172.1:c.1435C>T, NP_056085.1:p.Arg479Cys, NP_001377760.1:p.Arg479Cys, NP_001377759.1:p.Arg479Cys, XP_006719273.1:p.Arg479Cys, XP_016874232.1:p.Arg479Cys, XP_047284129.1:p.Arg479Cys, XP_047284127.1:p.Arg479Cys, XP_047284128.1:p.Arg479Cys

Select item 148871272220.

rs1488712722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48784304 (GRCh38)
12:49178087 (GRCh37)
Canonical SPDI:: NC_000012.12:48784303:G:A
Gene:: ADCY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.48784304G>A, NC_000012.11:g.49178087G>A, NG_042166.1:g.9793C>T

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