SNP Links for Gene (Select 79056) - SNP

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Select item 14913962111.

rs1491396211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATTAT,TATTATTAT [Show Flanks]
Chromosome:: 11:32837535 (GRCh38)
11:32859082 (GRCh37)
Canonical SPDI:: NC_000011.10:32837535:AT:ATTAT,NC_000011.10:32837535:AT:ATTATTAT,NC_000011.10:32837535:AT:ATTATTATTAT
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTAT=0./0 (ALFA)
ATT=0.00839/5 (NorthernSweden)
ATT=0.01207/202 (TOMMO)
HGVS:: NC_000011.10:g.32837537_32837538insTAT, NC_000011.10:g.32837537_32837538insTATTAT, NC_000011.10:g.32837538TAT[3], NC_000011.9:g.32859083_32859084insTAT, NC_000011.9:g.32859083_32859084insTATTAT, NC_000011.9:g.32859084TAT[3]

Select item 14913717302.

rs1491371730 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:32837535 (GRCh38)
11:32859081 (GRCh37)
Canonical SPDI:: NC_000011.10:32837534:GA:
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.04593/767 (TOMMO)
-=0.05034/30 (NorthernSweden)
-=0.0635/6055 (GnomAD)
HGVS:: NC_000011.10:g.32837535_32837536del, NC_000011.9:g.32859081_32859082del

Select item 14912380113.

rs1491238011 has merged into rs34159502 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:32854568 (GRCh38)
11:32876114 (GRCh37)
Canonical SPDI:: NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:32854557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRRG4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.32854568_32854578del, NC_000011.10:g.32854571_32854578del, NC_000011.10:g.32854572_32854578del, NC_000011.10:g.32854574_32854578del, NC_000011.10:g.32854575_32854578del, NC_000011.10:g.32854576_32854578del, NC_000011.10:g.32854577_32854578del, NC_000011.10:g.32854578del, NC_000011.10:g.32854578dup, NC_000011.10:g.32854577_32854578dup, NC_000011.10:g.32854576_32854578dup, NC_000011.10:g.32854574_32854578dup, NC_000011.10:g.32854573_32854578dup, NC_000011.9:g.32876114_32876124del, NC_000011.9:g.32876117_32876124del, NC_000011.9:g.32876118_32876124del, NC_000011.9:g.32876120_32876124del, NC_000011.9:g.32876121_32876124del, NC_000011.9:g.32876122_32876124del, NC_000011.9:g.32876123_32876124del, NC_000011.9:g.32876124del, NC_000011.9:g.32876124dup, NC_000011.9:g.32876123_32876124dup, NC_000011.9:g.32876122_32876124dup, NC_000011.9:g.32876120_32876124dup, NC_000011.9:g.32876119_32876124dup, NM_024081.6:c.*1041_*1051del, NM_024081.6:c.*1044_*1051del, NM_024081.6:c.*1045_*1051del, NM_024081.6:c.*1047_*1051del, NM_024081.6:c.*1048_*1051del, NM_024081.6:c.*1049_*1051del, NM_024081.6:c.*1050_*1051del, NM_024081.6:c.*1051del, NM_024081.6:c.*1051dup, NM_024081.6:c.*1050_*1051dup, NM_024081.6:c.*1049_*1051dup, NM_024081.6:c.*1047_*1051dup, NM_024081.6:c.*1046_*1051dup, NM_024081.5:c.*1041_*1051del, NM_024081.5:c.*1044_*1051del, NM_024081.5:c.*1045_*1051del, NM_024081.5:c.*1047_*1051del, NM_024081.5:c.*1048_*1051del, NM_024081.5:c.*1049_*1051del, NM_024081.5:c.*1050_*1051del, NM_024081.5:c.*1051del, NM_024081.5:c.*1051dup, NM_024081.5:c.*1050_*1051dup, NM_024081.5:c.*1049_*1051dup, NM_024081.5:c.*1047_*1051dup, NM_024081.5:c.*1046_*1051dup, XM_006718313.4:c.*1136_*1146del, XM_006718313.4:c.*1139_*1146del, XM_006718313.4:c.*1140_*1146del, XM_006718313.4:c.*1142_*1146del, XM_006718313.4:c.*1143_*1146del, XM_006718313.4:c.*1144_*1146del, XM_006718313.4:c.*1145_*1146del, XM_006718313.4:c.*1146del, XM_006718313.4:c.*1146dup, XM_006718313.4:c.*1145_*1146dup, XM_006718313.4:c.*1144_*1146dup, XM_006718313.4:c.*1142_*1146dup, XM_006718313.4:c.*1141_*1146dup, XM_006718314.4:c.*1041_*1051del, XM_006718314.4:c.*1044_*1051del, XM_006718314.4:c.*1045_*1051del, XM_006718314.4:c.*1047_*1051del, XM_006718314.4:c.*1048_*1051del, XM_006718314.4:c.*1049_*1051del, XM_006718314.4:c.*1050_*1051del, XM_006718314.4:c.*1051del, XM_006718314.4:c.*1051dup, XM_006718314.4:c.*1050_*1051dup, XM_006718314.4:c.*1049_*1051dup, XM_006718314.4:c.*1047_*1051dup, XM_006718314.4:c.*1046_*1051dup

Select item 14911982114.

rs1491198211 has merged into rs555430349 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:32832488 (GRCh38)
11:32854034 (GRCh37)
Canonical SPDI:: NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32832479:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4251/2129 (1000Genomes)
HGVS:: NC_000011.10:g.32832488_32832498del, NC_000011.10:g.32832492_32832498del, NC_000011.10:g.32832496_32832498del, NC_000011.10:g.32832497_32832498del, NC_000011.10:g.32832498del, NC_000011.10:g.32832498dup, NC_000011.10:g.32832497_32832498dup, NC_000011.10:g.32832496_32832498dup, NC_000011.10:g.32832495_32832498dup, NC_000011.10:g.32832494_32832498dup, NC_000011.10:g.32832492_32832498dup, NC_000011.10:g.32832491_32832498dup, NC_000011.10:g.32832489_32832498dup, NC_000011.9:g.32854034_32854044del, NC_000011.9:g.32854038_32854044del, NC_000011.9:g.32854042_32854044del, NC_000011.9:g.32854043_32854044del, NC_000011.9:g.32854044del, NC_000011.9:g.32854044dup, NC_000011.9:g.32854043_32854044dup, NC_000011.9:g.32854042_32854044dup, NC_000011.9:g.32854041_32854044dup, NC_000011.9:g.32854040_32854044dup, NC_000011.9:g.32854038_32854044dup, NC_000011.9:g.32854037_32854044dup, NC_000011.9:g.32854035_32854044dup

Select item 14911915405.

rs1491191540 has merged into rs34615143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:32852953 (GRCh38)
11:32874499 (GRCh37)
Canonical SPDI:: NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:32852939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.32852953_32852961del, NC_000011.10:g.32852954_32852961del, NC_000011.10:g.32852955_32852961del, NC_000011.10:g.32852956_32852961del, NC_000011.10:g.32852957_32852961del, NC_000011.10:g.32852958_32852961del, NC_000011.10:g.32852959_32852961del, NC_000011.10:g.32852960_32852961del, NC_000011.10:g.32852961del, NC_000011.10:g.32852961dup, NC_000011.10:g.32852960_32852961dup, NC_000011.10:g.32852959_32852961dup, NC_000011.10:g.32852958_32852961dup, NC_000011.10:g.32852957_32852961dup, NC_000011.10:g.32852956_32852961dup, NC_000011.10:g.32852955_32852961dup, NC_000011.10:g.32852954_32852961dup, NC_000011.10:g.32852953_32852961dup, NC_000011.10:g.32852952_32852961dup, NC_000011.10:g.32852951_32852961dup, NC_000011.10:g.32852949_32852961dup, NC_000011.9:g.32874499_32874507del, NC_000011.9:g.32874500_32874507del, NC_000011.9:g.32874501_32874507del, NC_000011.9:g.32874502_32874507del, NC_000011.9:g.32874503_32874507del, NC_000011.9:g.32874504_32874507del, NC_000011.9:g.32874505_32874507del, NC_000011.9:g.32874506_32874507del, NC_000011.9:g.32874507del, NC_000011.9:g.32874507dup, NC_000011.9:g.32874506_32874507dup, NC_000011.9:g.32874505_32874507dup, NC_000011.9:g.32874504_32874507dup, NC_000011.9:g.32874503_32874507dup, NC_000011.9:g.32874502_32874507dup, NC_000011.9:g.32874501_32874507dup, NC_000011.9:g.32874500_32874507dup, NC_000011.9:g.32874499_32874507dup, NC_000011.9:g.32874498_32874507dup, NC_000011.9:g.32874497_32874507dup, NC_000011.9:g.32874495_32874507dup

Select item 14911459566.

rs1491145956 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:32854557 (GRCh38)
11:32876103 (GRCh37)
Canonical SPDI:: NC_000011.10:32854556:CA:
Gene:: PRRG4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000011.10:g.32854557_32854558del, NC_000011.9:g.32876103_32876104del, NM_024081.6:c.*1030_*1031del, NM_024081.5:c.*1030_*1031del, XM_006718313.4:c.*1125_*1126del, XM_006718314.4:c.*1030_*1031del

Select item 14911339597.

rs1491133959 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 11:32852940 (GRCh38)
11:32874487 (GRCh37)
Canonical SPDI:: NC_000011.10:32852940:TT:TTATT
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
TTA=0.00026/1 (GnomAD)
HGVS:: NC_000011.10:g.32852942_32852943insATT, NC_000011.9:g.32874488_32874489insATT

Select item 14910463338.

rs1491046333 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:32837529 (GRCh38)
11:32859075 (GRCh37)
Canonical SPDI:: NC_000011.10:32837528:GA:
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.001659/3 (Korea1K)
-=0.001915/197 (GnomAD)
-=0.004494/75 (TOMMO)
HGVS:: NC_000011.10:g.32837529_32837530del, NC_000011.9:g.32859075_32859076del

Select item 14909664689.

rs1490966468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32853067 (GRCh38)
11:32874613 (GRCh37)
Canonical SPDI:: NC_000011.10:32853066:C:T
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.32853067C>T, NC_000011.9:g.32874613C>T

Select item 149074364910.

rs1490743649 [Homo sapiens]

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

Select item 149055179311.

rs1490551793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:32828221 (GRCh38)
11:32849767 (GRCh37)
Canonical SPDI:: NC_000011.10:32828220:A:C,NC_000011.10:32828220:A:T
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.32828221A>C, NC_000011.10:g.32828221A>T, NC_000011.9:g.32849767A>C, NC_000011.9:g.32849767A>T

Select item 149049444412.

rs1490494444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:32851314 (GRCh38)
11:32872860 (GRCh37)
Canonical SPDI:: NC_000011.10:32851313:A:C
Gene:: PRRG4 (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_000011.10:g.32851314A>C, NC_000011.9:g.32872860A>C

Select item 149047677013.

rs1490476770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32852756 (GRCh38)
11:32874302 (GRCh37)
Canonical SPDI:: NC_000011.10:32852755:A:G
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32852756A>G, NC_000011.9:g.32874302A>G

Select item 149010546214.

rs1490105462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:32848523 (GRCh38)
11:32870069 (GRCh37)
Canonical SPDI:: NC_000011.10:32848522:A:T
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000566/9 (TOMMO)
HGVS:: NC_000011.10:g.32848523A>T, NC_000011.9:g.32870069A>T

Select item 148999912715.

rs1489999127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:32849691 (GRCh38)
11:32871237 (GRCh37)
Canonical SPDI:: NC_000011.10:32849690:T:A
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.32849691T>A, NC_000011.9:g.32871237T>A

Select item 148998209616.

rs1489982096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32848513 (GRCh38)
11:32870059 (GRCh37)
Canonical SPDI:: NC_000011.10:32848512:T:C
Gene:: PRRG4 (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)
C=0.000156/1 (1000Genomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.32848513T>C, NC_000011.9:g.32870059T>C

Select item 148975826317.

rs1489758263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:32851987 (GRCh38)
11:32873533 (GRCh37)
Canonical SPDI:: NC_000011.10:32851986:A:C
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32851987A>C, NC_000011.9:g.32873533A>C

Select item 148964188018.

rs1489641880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATTAT [Show Flanks]
Chromosome:: 11:32837568 (GRCh38)
11:32859115 (GRCh37)
Canonical SPDI:: NC_000011.10:32837568:ATTAT:ATTATGATTAT
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTATGATTAT=0./0 (ALFA)
ATTATG=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.32837573_32837574insGATTAT, NC_000011.9:g.32859119_32859120insGATTAT

Select item 148959268619.

rs1489592686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32838714 (GRCh38)
11:32860260 (GRCh37)
Canonical SPDI:: NC_000011.10:32838713:G:A
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32838714G>A, NC_000011.9:g.32860260G>A

Select item 148929792520.

rs1489297925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:32828371 (GRCh38)
11:32849917 (GRCh37)
Canonical SPDI:: NC_000011.10:32828370:G:A,NC_000011.10:32828370:G:T
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.00006/1 (TOMMO)
A=0.00006/16 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.32828371G>A, NC_000011.10:g.32828371G>T, NC_000011.9:g.32849917G>A, NC_000011.9:g.32849917G>T

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