SNP Links for Nucleotide (Select 195539361) - SNP

Links from Nucleotide

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Select item 14904741261.

rs1490474126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56373619 (GRCh38)
19:56884988 (GRCh37)
Canonical SPDI:: NC_000019.10:56373618:G:A
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.56373619G>A, NC_000019.9:g.56884988G>A, NG_050571.1:g.24967C>T, NR_024056.2:n.627G>A, NR_024057.2:n.627G>A, NR_003127.2:n.471G>A, NR_024055.2:n.446G>A, NR_033418.1:n.627G>A, NM_194319.1:c.-457G>A

Select item 14899939742.

rs1489993974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56377846 (GRCh38)
19:56889215 (GRCh37)
Canonical SPDI:: NC_000019.10:56377845:T:C
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_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_000019.10:g.56377846T>C, NC_000019.9:g.56889215T>C, NG_050571.1:g.20740A>G, NR_024056.2:n.1683T>C, NR_024057.2:n.1611T>C, NR_003127.2:n.1527T>C, NR_024055.2:n.1430T>C, NR_033418.1:n.1751T>C, NM_194319.1:c.600T>C

Select item 14898819063.

rs1489881906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:56379701 (GRCh38)
19:56891070 (GRCh37)
Canonical SPDI:: NC_000019.10:56379700:G:A,NC_000019.10:56379700:G:C
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.56379701G>A, NC_000019.10:g.56379701G>C, NC_000019.9:g.56891070G>A, NC_000019.9:g.56891070G>C, NG_050571.1:g.18885C>T, NG_050571.1:g.18885C>G, NR_024056.2:n.3538G>A, NR_024056.2:n.3538G>C, NR_024057.2:n.3466G>A, NR_024057.2:n.3466G>C, NR_003127.2:n.3382G>A, NR_003127.2:n.3382G>C, NR_024055.2:n.3285G>A, NR_024055.2:n.3285G>C, NR_033418.1:n.3606G>A, NR_033418.1:n.3606G>C

Select item 14888550594.

rs1488855059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:56373265 (GRCh38)
19:56884634 (GRCh37)
Canonical SPDI:: NC_000019.10:56373264:C:G
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.56373265C>G, NC_000019.9:g.56884634C>G, NG_050571.1:g.25321G>C, NR_024056.2:n.520C>G, NR_024057.2:n.520C>G, NR_003127.2:n.364C>G, NR_024055.2:n.339C>G, NR_033418.1:n.520C>G, NM_194319.1:c.-564C>G

Select item 14885948605.

rs1488594860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56378374 (GRCh38)
19:56889743 (GRCh37)
Canonical SPDI:: NC_000019.10:56378373:G:A
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56378374G>A, NC_000019.9:g.56889743G>A, NG_050571.1:g.20212C>T, NR_024056.2:n.2211G>A, NR_024057.2:n.2139G>A, NR_003127.2:n.2055G>A, NR_024055.2:n.1958G>A, NR_033418.1:n.2279G>A, NM_194319.1:c.*404G>A

Select item 14885132746.

rs1488513274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56377014 (GRCh38)
19:56888383 (GRCh37)
Canonical SPDI:: NC_000019.10:56377013:A:G
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56377014A>G, NC_000019.9:g.56888383A>G, NG_050571.1:g.21572T>C, NR_024056.2:n.851A>G, NR_024057.2:n.779A>G, NR_003127.2:n.695A>G, NR_024055.2:n.598A>G, NR_033418.1:n.919A>G, NM_194319.1:c.-233A>G

Select item 14877559557.

rs1487755955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:56379480 (GRCh38)
19:56890849 (GRCh37)
Canonical SPDI:: NC_000019.10:56379479:C:A,NC_000019.10:56379479:C:T
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.001315/36 (TOMMO)
HGVS:: NC_000019.10:g.56379480C>A, NC_000019.10:g.56379480C>T, NC_000019.9:g.56890849C>A, NC_000019.9:g.56890849C>T, NG_050571.1:g.19106G>T, NG_050571.1:g.19106G>A, NR_024056.2:n.3317C>A, NR_024056.2:n.3317C>T, NR_024057.2:n.3245C>A, NR_024057.2:n.3245C>T, NR_003127.2:n.3161C>A, NR_003127.2:n.3161C>T, NR_024055.2:n.3064C>A, NR_024055.2:n.3064C>T, NR_033418.1:n.3385C>A, NR_033418.1:n.3385C>T, NM_194319.1:c.*1510C>A, NM_194319.1:c.*1510C>T

Select item 14862321088.

rs1486232108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56378622 (GRCh38)
19:56889991 (GRCh37)
Canonical SPDI:: NC_000019.10:56378621:C:T
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.56378622C>T, NC_000019.9:g.56889991C>T, NG_050571.1:g.19964G>A, NR_024056.2:n.2459C>T, NR_024057.2:n.2387C>T, NR_003127.2:n.2303C>T, NR_024055.2:n.2206C>T, NR_033418.1:n.2527C>T, NM_194319.1:c.*652C>T

Select item 14861403449.

rs1486140344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56379557 (GRCh38)
19:56890926 (GRCh37)
Canonical SPDI:: NC_000019.10:56379556:C:T
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_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_000019.10:g.56379557C>T, NC_000019.9:g.56890926C>T, NG_050571.1:g.19029G>A, NR_024056.2:n.3394C>T, NR_024057.2:n.3322C>T, NR_003127.2:n.3238C>T, NR_024055.2:n.3141C>T, NR_033418.1:n.3462C>T

Select item 148495498310.

rs1484954983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:56378759 (GRCh38)
19:56890128 (GRCh37)
Canonical SPDI:: NC_000019.10:56378758:C:A,NC_000019.10:56378758:C:T
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.56378759C>A, NC_000019.10:g.56378759C>T, NC_000019.9:g.56890128C>A, NC_000019.9:g.56890128C>T, NG_050571.1:g.19827G>T, NG_050571.1:g.19827G>A, NR_024056.2:n.2596C>A, NR_024056.2:n.2596C>T, NR_024057.2:n.2524C>A, NR_024057.2:n.2524C>T, NR_003127.2:n.2440C>A, NR_003127.2:n.2440C>T, NR_024055.2:n.2343C>A, NR_024055.2:n.2343C>T, NR_033418.1:n.2664C>A, NR_033418.1:n.2664C>T, NM_194319.1:c.*789C>A, NM_194319.1:c.*789C>T

Select item 148333754811.

rs1483337548 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:56378614 (GRCh38)
19:56889983 (GRCh37)
Canonical SPDI:: NC_000019.10:56378610:CTCTC:CTC
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.56378612TC[1], NC_000019.9:g.56889981TC[1], NG_050571.1:g.19972AG[1], NR_024056.2:n.2449TC[1], NR_024057.2:n.2377TC[1], NR_003127.2:n.2293TC[1], NR_024055.2:n.2196TC[1], NR_033418.1:n.2517TC[1], NM_194319.1:c.*642TC[1]

Select item 148300509912.

rs1483005099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56379577 (GRCh38)
19:56890946 (GRCh37)
Canonical SPDI:: NC_000019.10:56379576:C:A
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.56379577C>A, NC_000019.9:g.56890946C>A, NG_050571.1:g.19009G>T, NR_024056.2:n.3414C>A, NR_024057.2:n.3342C>A, NR_003127.2:n.3258C>A, NR_024055.2:n.3161C>A, NR_033418.1:n.3482C>A

Select item 148262764513.

rs1482627645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:56379057 (GRCh38)
19:56890426 (GRCh37)
Canonical SPDI:: NC_000019.10:56379056:T:A
Gene:: ZNF542P (Varview)
Functional Consequence:: 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_000019.10:g.56379057T>A, NC_000019.9:g.56890426T>A, NG_050571.1:g.19529A>T, NR_024056.2:n.2894T>A, NR_024057.2:n.2822T>A, NR_003127.2:n.2738T>A, NR_024055.2:n.2641T>A, NR_033418.1:n.2962T>A, NM_194319.1:c.*1087T>A

Select item 148184978114.

rs1481849781 has merged into rs71184355 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:56379494 (GRCh38)
19:56890863 (GRCh37)
Canonical SPDI:: NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:56379482:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1833/918 (1000Genomes)
HGVS:: NC_000019.10:g.56379494_56379499del, NC_000019.10:g.56379496_56379499del, NC_000019.10:g.56379497_56379499del, NC_000019.10:g.56379498_56379499del, NC_000019.10:g.56379499del, NC_000019.10:g.56379499dup, NC_000019.10:g.56379498_56379499dup, NC_000019.10:g.56379497_56379499dup, NC_000019.10:g.56379496_56379499dup, NC_000019.10:g.56379495_56379499dup, NC_000019.10:g.56379494_56379499dup, NC_000019.10:g.56379493_56379499dup, NC_000019.10:g.56379492_56379499dup, NC_000019.10:g.56379491_56379499dup, NC_000019.10:g.56379490_56379499dup, NC_000019.10:g.56379489_56379499dup, NC_000019.10:g.56379488_56379499dup, NC_000019.10:g.56379499_56379500insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.56379499_56379500insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.56890863_56890868del, NC_000019.9:g.56890865_56890868del, NC_000019.9:g.56890866_56890868del, NC_000019.9:g.56890867_56890868del, NC_000019.9:g.56890868del, NC_000019.9:g.56890868dup, NC_000019.9:g.56890867_56890868dup, NC_000019.9:g.56890866_56890868dup, NC_000019.9:g.56890865_56890868dup, NC_000019.9:g.56890864_56890868dup, NC_000019.9:g.56890863_56890868dup, NC_000019.9:g.56890862_56890868dup, NC_000019.9:g.56890861_56890868dup, NC_000019.9:g.56890860_56890868dup, NC_000019.9:g.56890859_56890868dup, NC_000019.9:g.56890858_56890868dup, NC_000019.9:g.56890857_56890868dup, NC_000019.9:g.56890868_56890869insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.56890868_56890869insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050571.1:g.19098_19103del, NG_050571.1:g.19100_19103del, NG_050571.1:g.19101_19103del, NG_050571.1:g.19102_19103del, NG_050571.1:g.19103del, NG_050571.1:g.19103dup, NG_050571.1:g.19102_19103dup, NG_050571.1:g.19101_19103dup, NG_050571.1:g.19100_19103dup, NG_050571.1:g.19099_19103dup, NG_050571.1:g.19098_19103dup, NG_050571.1:g.19097_19103dup, NG_050571.1:g.19096_19103dup, NG_050571.1:g.19095_19103dup, NG_050571.1:g.19094_19103dup, NG_050571.1:g.19093_19103dup, NG_050571.1:g.19092_19103dup, NG_050571.1:g.19103_19104insTTTTTTTTTTTTTTTTTTTTTTTT, NG_050571.1:g.19103_19104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_024056.2:n.3331_3336del, NR_024056.2:n.3333_3336del, NR_024056.2:n.3334_3336del, NR_024056.2:n.3335_3336del, NR_024056.2:n.3336del, NR_024056.2:n.3336dup, NR_024056.2:n.3335_3336dup, NR_024056.2:n.3334_3336dup, NR_024056.2:n.3333_3336dup, NR_024056.2:n.3332_3336dup, NR_024056.2:n.3331_3336dup, NR_024056.2:n.3330_3336dup, NR_024056.2:n.3329_3336dup, NR_024056.2:n.3328_3336dup, NR_024056.2:n.3327_3336dup, NR_024056.2:n.3326_3336dup, NR_024056.2:n.3325_3336dup, NR_024056.2:n.3336_3337insAAAAAAAAAAAAAAAAAAAAAAAA, NR_024056.2:n.3336_3337insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_024057.2:n.3259_3264del, NR_024057.2:n.3261_3264del, NR_024057.2:n.3262_3264del, NR_024057.2:n.3263_3264del, NR_024057.2:n.3264del, NR_024057.2:n.3264dup, NR_024057.2:n.3263_3264dup, NR_024057.2:n.3262_3264dup, NR_024057.2:n.3261_3264dup, NR_024057.2:n.3260_3264dup, NR_024057.2:n.3259_3264dup, NR_024057.2:n.3258_3264dup, NR_024057.2:n.3257_3264dup, NR_024057.2:n.3256_3264dup, NR_024057.2:n.3255_3264dup, NR_024057.2:n.3254_3264dup, NR_024057.2:n.3253_3264dup, NR_024057.2:n.3264_3265insAAAAAAAAAAAAAAAAAAAAAAAA, NR_024057.2:n.3264_3265insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_003127.2:n.3175_3180del, NR_003127.2:n.3177_3180del, NR_003127.2:n.3178_3180del, NR_003127.2:n.3179_3180del, NR_003127.2:n.3180del, NR_003127.2:n.3180dup, NR_003127.2:n.3179_3180dup, NR_003127.2:n.3178_3180dup, NR_003127.2:n.3177_3180dup, NR_003127.2:n.3176_3180dup, NR_003127.2:n.3175_3180dup, NR_003127.2:n.3174_3180dup, NR_003127.2:n.3173_3180dup, NR_003127.2:n.3172_3180dup, NR_003127.2:n.3171_3180dup, NR_003127.2:n.3170_3180dup, NR_003127.2:n.3169_3180dup, NR_003127.2:n.3180_3181insAAAAAAAAAAAAAAAAAAAAAAAA, NR_003127.2:n.3180_3181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_024055.2:n.3078_3083del, NR_024055.2:n.3080_3083del, NR_024055.2:n.3081_3083del, NR_024055.2:n.3082_3083del, NR_024055.2:n.3083del, NR_024055.2:n.3083dup, NR_024055.2:n.3082_3083dup, NR_024055.2:n.3081_3083dup, NR_024055.2:n.3080_3083dup, NR_024055.2:n.3079_3083dup, NR_024055.2:n.3078_3083dup, NR_024055.2:n.3077_3083dup, NR_024055.2:n.3076_3083dup, NR_024055.2:n.3075_3083dup, NR_024055.2:n.3074_3083dup, NR_024055.2:n.3073_3083dup, NR_024055.2:n.3072_3083dup, NR_024055.2:n.3083_3084insAAAAAAAAAAAAAAAAAAAAAAAA, NR_024055.2:n.3083_3084insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033418.1:n.3399_3404del, NR_033418.1:n.3401_3404del, NR_033418.1:n.3402_3404del, NR_033418.1:n.3403_3404del, NR_033418.1:n.3404del, NR_033418.1:n.3404dup, NR_033418.1:n.3403_3404dup, NR_033418.1:n.3402_3404dup, NR_033418.1:n.3401_3404dup, NR_033418.1:n.3400_3404dup, NR_033418.1:n.3399_3404dup, NR_033418.1:n.3398_3404dup, NR_033418.1:n.3397_3404dup, NR_033418.1:n.3396_3404dup, NR_033418.1:n.3395_3404dup, NR_033418.1:n.3394_3404dup, NR_033418.1:n.3393_3404dup, NR_033418.1:n.3404_3405insAAAAAAAAAAAAAAAAAAAAAAAA, NR_033418.1:n.3404_3405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_194319.1:c.*1524_*1529del, NM_194319.1:c.*1526_*1529del, NM_194319.1:c.*1527_*1529del, NM_194319.1:c.*1528_*1529del, NM_194319.1:c.*1529del, NM_194319.1:c.*1529dup, NM_194319.1:c.*1528_*1529dup, NM_194319.1:c.*1527_*1529dup, NM_194319.1:c.*1526_*1529dup, NM_194319.1:c.*1525_*1529dup, NM_194319.1:c.*1524_*1529dup, NM_194319.1:c.*1523_*1529dup, NM_194319.1:c.*1522_*1529dup, NM_194319.1:c.*1521_*1529dup, NM_194319.1:c.*1520_*1529dup, NM_194319.1:c.*1519_*1529dup, NM_194319.1:c.*1518_*1529dup, NM_194319.1:c.*1529_*1530insAAAAAAAAAAAAAAAAAAAAAAAA, NM_194319.1:c.*1529_*1530insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148065274915.

rs1480652749 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:56373246 (GRCh38)
19:56884616 (GRCh37)
Canonical SPDI:: NC_000019.10:56373246:G:GG
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56373247dup, NC_000019.9:g.56884616dup, NG_050571.1:g.25339dup, NR_024056.2:n.502dup, NR_024057.2:n.502dup, NR_003127.2:n.346dup, NR_024055.2:n.321dup, NR_033418.1:n.502dup, NM_194319.1:c.-582dup

Select item 148032400416.

rs1480324004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:56377244 (GRCh38)
19:56888613 (GRCh37)
Canonical SPDI:: NC_000019.10:56377243:C:G
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.56377244C>G, NC_000019.9:g.56888613C>G, NG_050571.1:g.21342G>C, NR_024056.2:n.1081C>G, NR_024057.2:n.1009C>G, NR_003127.2:n.925C>G, NR_024055.2:n.828C>G, NR_033418.1:n.1149C>G, NM_194319.1:c.-3C>G

Select item 148015443117.

rs1480154431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56373560 (GRCh38)
19:56884929 (GRCh37)
Canonical SPDI:: NC_000019.10:56373559:C:T
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_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_000019.10:g.56373560C>T, NC_000019.9:g.56884929C>T, NG_050571.1:g.25026G>A, NR_024056.2:n.568C>T, NR_024057.2:n.568C>T, NR_003127.2:n.412C>T, NR_024055.2:n.387C>T, NR_033418.1:n.568C>T, NM_194319.1:c.-516C>T

Select item 147957334118.

rs1479573341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:56379559 (GRCh38)
19:56890929 (GRCh37)
Canonical SPDI:: NC_000019.10:56379559:T:TT
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.56379560dup, NC_000019.9:g.56890929dup, NG_050571.1:g.19026dup, NR_024056.2:n.3397dup, NR_024057.2:n.3325dup, NR_003127.2:n.3241dup, NR_024055.2:n.3144dup, NR_033418.1:n.3465dup

Select item 147878202719.

rs1478782027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56368922 (GRCh38)
19:56880291 (GRCh37)
Canonical SPDI:: NC_000019.10:56368921:T:C
Gene:: ZSCAN5A (Varview), ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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_000019.10:g.56368922T>C, NC_000019.9:g.56880291T>C, NR_024056.2:n.397T>C, NR_024057.2:n.397T>C, NR_003127.2:n.182T>C, NR_024055.2:n.157T>C, NR_033418.1:n.397T>C, NM_194319.1:c.-746T>C

Select item 147874410120.

rs1478744101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:56377479 (GRCh38)
19:56888848 (GRCh37)
Canonical SPDI:: NC_000019.10:56377478:G:C
Gene:: ZNF542P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.56377479G>C, NC_000019.9:g.56888848G>C, NG_050571.1:g.21107C>G, NR_024056.2:n.1316G>C, NR_024057.2:n.1244G>C, NR_003127.2:n.1160G>C, NR_024055.2:n.1063G>C, NR_033418.1:n.1384G>C, NM_194319.1:c.233G>C

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