SNP Links for Gene (Select 135927) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:142938881 (GRCh38)
7:142635978 (GRCh37)
Canonical SPDI:: NC_000007.14:142938880:C:G
Gene:: LLCFC1 (Varview), LOC105375542 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142938881C>G, NC_000007.13:g.142635978C>G, NT_187562.1:g.961948C>G, NW_003571040.1:g.1141638C>G

Select item 14900099866.

rs1490009986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:142940002 (GRCh38)
7:142637099 (GRCh37)
Canonical SPDI:: NC_000007.14:142940001:G:C
Gene:: LLCFC1 (Varview)
Functional Consequence:: intron_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_000007.14:g.142940002G>C, NC_000007.13:g.142637099G>C, NG_007492.3:g.27415C>G, NT_187562.1:g.963069G>C, NW_003571040.1:g.1142759G>C, XR_951722.2:n.501C>G, XR_951723.2:n.501C>G

Select item 14896106717.

rs1489610671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142939908 (GRCh38)
7:142637005 (GRCh37)
Canonical SPDI:: NC_000007.14:142939907:T:C
Gene:: LLCFC1 (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_000007.14:g.142939908T>C, NC_000007.13:g.142637005T>C, NG_007492.3:g.27509A>G, NT_187562.1:g.962975T>C, NW_003571040.1:g.1142665T>C, XR_951722.2:n.595A>G, XR_951723.2:n.595A>G

Select item 14880961848.

rs1488096184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142937836 (GRCh38)
7:142634933 (GRCh37)
Canonical SPDI:: NC_000007.14:142937835:G:A
Gene:: LLCFC1 (Varview), LOC105375542 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142937836G>A, NC_000007.13:g.142634933G>A, NG_046912.1:g.888C>T, NT_187562.1:g.960903G>A, NW_003571040.1:g.1140593G>A, XR_951722.2:n.2308C>T, XR_951722.1:n.855C>T, XR_951723.2:n.2242C>T, XR_951723.1:n.832C>T

Select item 14876440629.

rs1487644062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142940709 (GRCh38)
7:142637796 (GRCh37)
Canonical SPDI:: NC_000007.14:142940708:T:C
Gene:: KEL (Varview), LLCFC1 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142940709T>C, NC_000007.13:g.142637796T>C, NG_007492.3:g.26708A>G, NT_187562.1:g.963776T>C, NW_003571040.1:g.1143456T>C, NM_178829.5:c.*122T>C, NM_178829.4:c.*122T>C, NM_001382496.1:c.*122T>C, NR_160290.1:n.441T>C

Select item 148629296410.

rs1486292964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:142938019 (GRCh38)
7:142635116 (GRCh37)
Canonical SPDI:: NC_000007.14:142938018:A:C
Gene:: LLCFC1 (Varview), LOC105375542 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.142938019A>C, NC_000007.13:g.142635116A>C, NG_046912.1:g.705T>G, NT_187562.1:g.961086A>C, NW_003571040.1:g.1140776A>C, XR_951722.2:n.2125T>G, XR_951722.1:n.672T>G, XR_951723.2:n.2059T>G, XR_951723.1:n.649T>G

Select item 148574603311.

rs1485746033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142939491 (GRCh38)
7:142636588 (GRCh37)
Canonical SPDI:: NC_000007.14:142939490:C:T
Gene:: LLCFC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.142939491C>T, NC_000007.13:g.142636588C>T, NG_007492.3:g.27926G>A, NT_187562.1:g.962558C>T, NW_003571040.1:g.1142248C>T, NM_178829.5:c.-56C>T, XR_951722.2:n.1012G>A, XR_951723.2:n.1012G>A, NM_001382496.1:c.-131C>T, NR_160290.1:n.8C>T

Select item 148519647912.

rs1485196479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142941245 (GRCh38)
7:142638332 (GRCh37)
Canonical SPDI:: NC_000007.14:142941244:A:G
Gene:: KEL (Varview), LLCFC1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142941245A>G, NC_000007.13:g.142638332A>G, NG_007492.3:g.26172T>C, NM_000420.3:c.*7T>C, NM_000420.2:c.*7T>C, NT_187562.1:g.964312A>G, NW_003571040.1:g.1143992A>G, XM_005249993.2:c.*7T>C, XM_005249993.1:c.*7T>C, XM_047420357.1:c.*7T>C

Select item 148380009513.

rs1483800095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142940130 (GRCh38)
7:142637217 (GRCh37)
Canonical SPDI:: NC_000007.14:142940129:T:C
Gene:: LLCFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.142940130T>C, NC_000007.13:g.142637217T>C, NG_007492.3:g.27287A>G, NT_187562.1:g.963197T>C, NW_003571040.1:g.1142877T>C, XR_951722.2:n.373A>G, XR_951723.2:n.373A>G

Select item 148375853814.

rs1483758538 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCC [Show Flanks]
Chromosome:: 7:142940586 (GRCh38)
7:142637674 (GRCh37)
Canonical SPDI:: NC_000007.14:142940586:ACCC:ACCCACCC
Gene:: LLCFC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,terminator_codon_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCCACCC=0./0 (ALFA)
ACCC=0.000004/1 (GnomAD_exomes)
ACCC=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142940587_142940590dup, NC_000007.13:g.142637674_142637677dup, NG_007492.3:g.26827_26830dup, NT_187562.1:g.963654_963657dup, NW_003571040.1:g.1143334_1143337dup, NM_178829.5:c.444_*3dup, NM_178829.4:c.444_*3dup, NM_001382496.1:c.369_*3dup, NR_160290.1:n.319_322dup

Select item 148276821015.

rs1482768210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:142939715 (GRCh38)
7:142636812 (GRCh37)
Canonical SPDI:: NC_000007.14:142939714:C:G
Gene:: LLCFC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.142939715C>G, NC_000007.13:g.142636812C>G, NG_007492.3:g.27702G>C, NT_187562.1:g.962782C>G, NW_003571040.1:g.1142472C>G, NM_178829.5:c.169C>G, NM_178829.4:c.169C>G, XR_951722.2:n.788G>C, XR_951723.2:n.788G>C, NM_001382496.1:c.94C>G, NR_160290.1:n.44C>G, NP_001369425.1:p.Pro32Ala

Select item 148267099916.

rs1482670999 has merged into rs782240164 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:142940133 (GRCh38)
7:142637230 (GRCh37)
Canonical SPDI:: NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:142940106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LLCFC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.142940107GT[13], NC_000007.14:g.142940107GT[14], NC_000007.14:g.142940107GT[15], NC_000007.14:g.142940107GT[16], NC_000007.14:g.142940107GT[17], NC_000007.14:g.142940107GT[18], NC_000007.14:g.142940107GT[19], NC_000007.14:g.142940107GT[20], NC_000007.14:g.142940107GT[21], NC_000007.14:g.142940107GT[22], NC_000007.14:g.142940107GT[23], NC_000007.14:g.142940107GT[24], NC_000007.14:g.142940107GT[25], NC_000007.14:g.142940107GT[27], NC_000007.14:g.142940107GT[28], NC_000007.14:g.142940107GT[29], NC_000007.14:g.142940107GT[30], NC_000007.14:g.142940107GT[31], NC_000007.14:g.142940107GT[36], NC_000007.13:g.142637204GT[26], NC_000007.13:g.142637204GT[13], NC_000007.13:g.142637204GT[14], NC_000007.13:g.142637204GT[15], NC_000007.13:g.142637204GT[16], NC_000007.13:g.142637204GT[17], NC_000007.13:g.142637204GT[18], NC_000007.13:g.142637204GT[19], NC_000007.13:g.142637204GT[20], NC_000007.13:g.142637204GT[22], NC_000007.13:g.142637204GT[23], NC_000007.13:g.142637204GT[24], NC_000007.13:g.142637204GT[25], NC_000007.13:g.142637204GT[27], NC_000007.13:g.142637204GT[28], NC_000007.13:g.142637204GT[29], NC_000007.13:g.142637204GT[30], NC_000007.13:g.142637204GT[31], NC_000007.13:g.142637204GT[36], NG_007492.3:g.27259AC[13], NG_007492.3:g.27259AC[14], NG_007492.3:g.27259AC[15], NG_007492.3:g.27259AC[16], NG_007492.3:g.27259AC[17], NG_007492.3:g.27259AC[18], NG_007492.3:g.27259AC[19], NG_007492.3:g.27259AC[20], NG_007492.3:g.27259AC[21], NG_007492.3:g.27259AC[22], NG_007492.3:g.27259AC[23], NG_007492.3:g.27259AC[24], NG_007492.3:g.27259AC[25], NG_007492.3:g.27259AC[27], NG_007492.3:g.27259AC[28], NG_007492.3:g.27259AC[29], NG_007492.3:g.27259AC[30], NG_007492.3:g.27259AC[31], NG_007492.3:g.27259AC[36], NT_187562.1:g.963174GT[13], NT_187562.1:g.963174GT[14], NT_187562.1:g.963174GT[15], NT_187562.1:g.963174GT[16], NT_187562.1:g.963174GT[17], NT_187562.1:g.963174GT[18], NT_187562.1:g.963174GT[19], NT_187562.1:g.963174GT[20], NT_187562.1:g.963174GT[21], NT_187562.1:g.963174GT[22], NT_187562.1:g.963174GT[23], NT_187562.1:g.963174GT[24], NT_187562.1:g.963174GT[25], NT_187562.1:g.963174GT[27], NT_187562.1:g.963174GT[28], NT_187562.1:g.963174GT[29], NT_187562.1:g.963174GT[30], NT_187562.1:g.963174GT[31], NT_187562.1:g.963174GT[36], NW_003571040.1:g.1142864GT[26], NW_003571040.1:g.1142864GT[13], NW_003571040.1:g.1142864GT[14], NW_003571040.1:g.1142864GT[15], NW_003571040.1:g.1142864GT[16], NW_003571040.1:g.1142864GT[17], NW_003571040.1:g.1142864GT[18], NW_003571040.1:g.1142864GT[19], NW_003571040.1:g.1142864GT[20], NW_003571040.1:g.1142864GT[22], NW_003571040.1:g.1142864GT[23], NW_003571040.1:g.1142864GT[24], NW_003571040.1:g.1142864GT[25], NW_003571040.1:g.1142864GT[27], NW_003571040.1:g.1142864GT[28], NW_003571040.1:g.1142864GT[29], NW_003571040.1:g.1142864GT[30], NW_003571040.1:g.1142864GT[31], NW_003571040.1:g.1142864GT[36], XR_951722.2:n.345AC[13], XR_951722.2:n.345AC[14], XR_951722.2:n.345AC[15], XR_951722.2:n.345AC[16], XR_951722.2:n.345AC[17], XR_951722.2:n.345AC[18], XR_951722.2:n.345AC[19], XR_951722.2:n.345AC[20], XR_951722.2:n.345AC[21], XR_951722.2:n.345AC[22], XR_951722.2:n.345AC[23], XR_951722.2:n.345AC[24], XR_951722.2:n.345AC[25], XR_951722.2:n.345AC[27], XR_951722.2:n.345AC[28], XR_951722.2:n.345AC[29], XR_951722.2:n.345AC[30], XR_951722.2:n.345AC[31], XR_951722.2:n.345AC[36], XR_951723.2:n.345AC[13], XR_951723.2:n.345AC[14], XR_951723.2:n.345AC[15], XR_951723.2:n.345AC[16], XR_951723.2:n.345AC[17], XR_951723.2:n.345AC[18], XR_951723.2:n.345AC[19], XR_951723.2:n.345AC[20], XR_951723.2:n.345AC[21], XR_951723.2:n.345AC[22], XR_951723.2:n.345AC[23], XR_951723.2:n.345AC[24], XR_951723.2:n.345AC[25], XR_951723.2:n.345AC[27], XR_951723.2:n.345AC[28], XR_951723.2:n.345AC[29], XR_951723.2:n.345AC[30], XR_951723.2:n.345AC[31], XR_951723.2:n.345AC[36]

Select item 148263774617.

rs1482637746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142941038 (GRCh38)
7:142638125 (GRCh37)
Canonical SPDI:: NC_000007.14:142941037:T:C
Gene:: KEL (Varview), LLCFC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142941038T>C, NC_000007.13:g.142638125T>C, NG_007492.3:g.26379A>G, NT_187562.1:g.964105T>C, NW_003571040.1:g.1143785T>C

Select item 148199524518.

rs1481995245 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:142937615 (GRCh38)
7:142634712 (GRCh37)
Canonical SPDI:: NC_000007.14:142937614:CT:
Gene:: LLCFC1 (Varview), LOC105375542 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000079/11 (GnomAD)
HGVS:: NC_000007.14:g.142937615_142937616del, NC_000007.13:g.142634712_142634713del, NG_046912.1:g.1108_1109del, NT_187562.1:g.960682_960683del, NW_003571040.1:g.1140372_1140373del, XR_951722.2:n.2528_2529del, XR_951722.1:n.1075_1076del, XR_951723.2:n.2462_2463del, XR_951723.1:n.1052_1053del

Select item 148183004119.

rs1481830041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142941142 (GRCh38)
7:142638229 (GRCh37)
Canonical SPDI:: NC_000007.14:142941141:G:A
Gene:: KEL (Varview), LLCFC1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142941142G>A, NC_000007.13:g.142638229G>A, NG_007492.3:g.26275C>T, NM_000420.3:c.*110C>T, NM_000420.2:c.*110C>T, NT_187562.1:g.964209G>A, NW_003571040.1:g.1143889G>A, XM_005249993.2:c.*110C>T, XM_005249993.1:c.*110C>T, XM_047420357.1:c.*110C>T

Select item 148105112720.

rs1481051127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:142938045 (GRCh38)
7:142635142 (GRCh37)
Canonical SPDI:: NC_000007.14:142938044:C:G,NC_000007.14:142938044:C:T
Gene:: LLCFC1 (Varview), LOC105375542 (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)
HGVS:: NC_000007.14:g.142938045C>G, NC_000007.14:g.142938045C>T, NC_000007.13:g.142635142C>G, NC_000007.13:g.142635142C>T, NG_046912.1:g.679G>C, NG_046912.1:g.679G>A, NT_187562.1:g.961112C>G, NT_187562.1:g.961112C>T, NW_003571040.1:g.1140802C>G, NW_003571040.1:g.1140802C>T, XR_951722.2:n.2099G>C, XR_951722.2:n.2099G>A, XR_951722.1:n.646G>C, XR_951722.1:n.646G>A, XR_951723.2:n.2033G>C, XR_951723.2:n.2033G>A, XR_951723.1:n.623G>C, XR_951723.1:n.623G>A

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