SNP Links for Gene (Select 54435) - SNP

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Select item 14904125851.

rs1490412585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29794286 (GRCh38)
6:29762063 (GRCh37)
Canonical SPDI:: NC_000006.12:29794285:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00738/33 (ALFA)
T=0.00195/33 (TOMMO)
T=0.00737/33 (Estonian)
T=0.10404/304 (KOREAN)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.29794286C>T, NC_000006.11:g.29762063C>T, NT_113891.3:g.1278048C>T, NT_113891.2:g.1278154C>T, NT_167248.2:g.1057250C>T, NT_167248.1:g.1062846C>T, NT_167245.2:g.1057271C>T, NT_167245.1:g.1062856C>T, NT_167249.2:g.1100437C>T, NT_167249.1:g.1099735C>T, NT_167246.2:g.1056862C>T, NT_167246.1:g.1062482C>T, NT_167247.2:g.1056937C>T, NT_167247.1:g.1062522C>T, NT_167244.2:g.1060098C>T, NW_003871063.1:g.36275C>T, NT_167244.1:g.1065692C>T

Select item 14901926802.

rs1490192680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:29793957 (GRCh38)
6:29761734 (GRCh37)
Canonical SPDI:: NC_000006.12:29793956:G:C
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.059086/965 (ALFA)
C=0.030696/3780 (GnomAD)
C=0.031027/139 (Estonian)
C=0.110659/1855 (TOMMO)
C=0.120706/773 (1000Genomes)
C=0.1843/540 (KOREAN)
G=0.5/12 (SGDP_PRJ)
HGVS:: NC_000006.12:g.29793957G>C, NC_000006.11:g.29761734G>C, NT_113891.3:g.1277720G>C, NT_113891.2:g.1277826G>C, NT_167248.2:g.1056922G>C, NT_167248.1:g.1062518G>C, NT_167245.2:g.1056942G>C, NT_167245.1:g.1062527G>C, NT_167249.2:g.1100108G>C, NT_167249.1:g.1099406G>C, NT_167246.2:g.1056533G>C, NT_167246.1:g.1062153G>C, NT_167247.2:g.1056608G>C, NT_167247.1:g.1062193G>C, NT_167244.2:g.1059770G>C, NW_003871063.1:g.35947G>C, NT_167244.1:g.1065364G>C

Select item 14894210643.

rs1489421064 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAT [Show Flanks]
Chromosome:: 6:29793849 (GRCh38)
6:29761627 (GRCh37)
Canonical SPDI:: NC_000006.12:29793849::CAT
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAT=0.030425/136 (ALFA)
CAT=0.030804/138 (Estonian)
CAT=0.044186/5457 (GnomAD)
CAT=0.128105/2147 (TOMMO)
CAT=0.131012/839 (1000Genomes)
HGVS:: NC_000006.12:g.29793849_29793850insCAT, NC_000006.11:g.29761626_29761627insCAT, NT_113891.3:g.1277612_1277613insCAT, NT_113891.2:g.1277718_1277719insCAT, NT_167248.2:g.1056814_1056815insCAT, NT_167248.1:g.1062410_1062411insCAT, NT_167245.2:g.1056834_1056835insCAT, NT_167245.1:g.1062419_1062420insCAT, NT_167249.2:g.1100000_1100001insCAT, NT_167249.1:g.1099298_1099299insCAT, NT_167246.2:g.1056425_1056426insCAT, NT_167246.1:g.1062045_1062046insCAT, NT_167247.2:g.1056500_1056501insCAT, NT_167247.1:g.1062085_1062086insCAT, NT_167244.2:g.1059662_1059663insCAT, NW_003871063.1:g.35839_35840insCAT, NT_167244.1:g.1065256_1065257insCAT

Select item 14877977414.

rs1487797741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:29793072 (GRCh38)
6:29760849 (GRCh37)
Canonical SPDI:: NC_000006.12:29793071:T:G
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00101/12 (ALFA)
G=0.00032/9 (TOMMO)
HGVS:: NC_000006.12:g.29793072T>G, NC_000006.11:g.29760849T>G, NT_113891.3:g.1276832T>G, NT_113891.2:g.1276938T>G, NT_167248.2:g.1056034T>G, NT_167248.1:g.1061630T>G, NT_167245.2:g.1056057T>G, NT_167245.1:g.1061642T>G, NT_167249.2:g.1099223T>G, NT_167249.1:g.1098521T>G, NT_167246.2:g.1055648T>G, NT_167246.1:g.1061268T>G, NT_167247.2:g.1055723T>G, NT_167247.1:g.1061308T>G, NT_167244.2:g.1058882T>G, NW_003871063.1:g.35059T>G, NT_167244.1:g.1064476T>G, NR_002139.2:n.2A>C, NM_018985.1:c.-322A>C

Select item 14877661485.

rs1487766148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:29791984 (GRCh38)
6:29759761 (GRCh37)
Canonical SPDI:: NC_000006.12:29791983:G:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29791984G>T, NC_000006.11:g.29759761G>T, NT_113891.3:g.1275765G>T, NT_113891.2:g.1275871G>T, NT_167248.2:g.1054967G>T, NT_167248.1:g.1060563G>T, NT_167245.2:g.1054969G>T, NT_167245.1:g.1060554G>T, NT_167249.2:g.1098135G>T, NT_167249.1:g.1097433G>T, NT_167246.2:g.1054560G>T, NT_167246.1:g.1060180G>T, NT_167247.2:g.1054635G>T, NT_167247.1:g.1060220G>T, NT_167244.2:g.1057815G>T, NW_003871063.1:g.33992G>T, NT_167244.1:g.1063409G>T, NR_002139.2:n.1090C>A, NM_018985.1:c.765C>A, NR_132323.1:n.79G>T, NM_001207043.1:c.-24G>T

Select item 14876637306.

rs1487663730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29792038 (GRCh38)
6:29759815 (GRCh37)
Canonical SPDI:: NC_000006.12:29792037:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29792038C>T, NC_000006.11:g.29759815C>T, NT_113891.3:g.1275819C>T, NT_113891.2:g.1275925C>T, NT_167248.2:g.1055021C>T, NT_167248.1:g.1060617C>T, NT_167245.2:g.1055023C>T, NT_167245.1:g.1060608C>T, NT_167249.2:g.1098189C>T, NT_167249.1:g.1097487C>T, NT_167246.2:g.1054614C>T, NT_167246.1:g.1060234C>T, NT_167247.2:g.1054689C>T, NT_167247.1:g.1060274C>T, NT_167244.2:g.1057869C>T, NW_003871063.1:g.34046C>T, NT_167244.1:g.1063463C>T, NR_002139.2:n.1036G>A, NM_018985.1:c.711G>A, NR_132323.1:n.133C>T, NM_001207043.1:c.31C>T

Select item 14861467767.

rs1486146776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:29794798 (GRCh38)
6:29762575 (GRCh37)
Canonical SPDI:: NC_000006.12:29794797:A:C
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29794798A>C, NC_000006.11:g.29762575A>C, NT_113891.3:g.1278561A>C, NT_113891.2:g.1278667A>C, NT_167248.2:g.1057763A>C, NT_167248.1:g.1063359A>C, NT_167245.2:g.1057782A>C, NT_167245.1:g.1063367A>C, NT_167249.2:g.1100949A>C, NT_167249.1:g.1100247A>C, NT_167246.2:g.1057374A>C, NT_167246.1:g.1062994A>C, NT_167247.2:g.1057448A>C, NT_167247.1:g.1063033A>C, NT_167244.2:g.1060611A>C, NW_003871063.1:g.36788A>C, NT_167244.1:g.1066205A>C

Select item 14859078858.

rs1485907885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29791132 (GRCh38)
6:29758909 (GRCh37)
Canonical SPDI:: NC_000006.12:29791131:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.29791132C>T, NC_000006.11:g.29758909C>T, NT_113891.3:g.1274915C>T, NT_113891.2:g.1275021C>T, NT_167248.2:g.1054117C>T, NT_167248.1:g.1059713C>T, NT_167245.2:g.1054117C>T, NT_167245.1:g.1059702C>T, NT_167249.2:g.1097283C>T, NT_167249.1:g.1096581C>T, NT_167246.2:g.1053708C>T, NT_167246.1:g.1059328C>T, NT_167247.2:g.1053783C>T, NT_167247.1:g.1059368C>T, NT_167244.2:g.1056965C>T, NW_003871063.1:g.33142C>T, NT_167244.1:g.1062559C>T, NR_002139.2:n.1942G>A, NM_018985.1:c.*621G>A

Select item 14847203399.

rs1484720339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:29792605 (GRCh38)
6:29760382 (GRCh37)
Canonical SPDI:: NC_000006.12:29792604:C:G,NC_000006.12:29792604:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.29792605C>G, NC_000006.12:g.29792605C>T, NC_000006.11:g.29760382C>G, NC_000006.11:g.29760382C>T, NT_113891.3:g.1276365C>G, NT_113891.3:g.1276365C>T, NT_113891.2:g.1276471C>G, NT_113891.2:g.1276471C>T, NT_167248.2:g.1055567C>G, NT_167248.2:g.1055567C>T, NT_167248.1:g.1061163C>G, NT_167248.1:g.1061163C>T, NT_167245.2:g.1055590C>G, NT_167245.2:g.1055590C>T, NT_167245.1:g.1061175C>G, NT_167245.1:g.1061175C>T, NT_167249.2:g.1098756C>G, NT_167249.2:g.1098756C>T, NT_167249.1:g.1098054C>G, NT_167249.1:g.1098054C>T, NT_167246.2:g.1055181C>G, NT_167246.2:g.1055181C>T, NT_167246.1:g.1060801C>G, NT_167246.1:g.1060801C>T, NT_167247.2:g.1055256C>G, NT_167247.2:g.1055256C>T, NT_167247.1:g.1060841C>G, NT_167247.1:g.1060841C>T, NT_167244.2:g.1058415C>G, NT_167244.2:g.1058415C>T, NW_003871063.1:g.34592C>G, NW_003871063.1:g.34592C>T, NT_167244.1:g.1064009C>G, NT_167244.1:g.1064009C>T, NR_002139.2:n.469G>C, NR_002139.2:n.469G>A, NM_018985.1:c.146G>C, NM_018985.1:c.146G>A, NR_132323.1:n.569C>G, NR_132323.1:n.569C>T, NM_001207043.1:c.467C>G, NM_001207043.1:c.467C>T

Select item 148452073810.

rs1484520738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29792799 (GRCh38)
6:29760576 (GRCh37)
Canonical SPDI:: NC_000006.12:29792798:C:G
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000006.12:g.29792799C>G, NC_000006.11:g.29760576C>G, NT_113891.3:g.1276559C>G, NT_113891.2:g.1276665C>G, NT_167248.2:g.1055761C>G, NT_167248.1:g.1061357C>G, NT_167245.2:g.1055784C>G, NT_167245.1:g.1061369C>G, NT_167249.2:g.1098950C>G, NT_167249.1:g.1098248C>G, NT_167246.2:g.1055375C>G, NT_167246.1:g.1060995C>G, NT_167247.2:g.1055450C>G, NT_167247.1:g.1061035C>G, NT_167244.2:g.1058609C>G, NW_003871063.1:g.34786C>G, NT_167244.1:g.1064203C>G, NR_002139.2:n.275G>C, NM_018985.1:c.-49G>C

Select item 148447214511.

rs1484472145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29794102 (GRCh38)
6:29761879 (GRCh37)
Canonical SPDI:: NC_000006.12:29794101:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003061/50 (ALFA)
T=0.001351/174 (GnomAD)
T=0.032699/548 (TOMMO)
T=0.050308/147 (KOREAN)
T=0.051999/333 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000006.12:g.29794102C>T, NC_000006.11:g.29761879C>T, NT_113891.3:g.1277865C>T, NT_113891.2:g.1277971C>T, NT_167248.2:g.1057067C>T, NT_167248.1:g.1062663C>T, NT_167245.2:g.1057087C>T, NT_167245.1:g.1062672C>T, NT_167249.2:g.1100253C>T, NT_167249.1:g.1099551C>T, NT_167246.2:g.1056678C>T, NT_167246.1:g.1062298C>T, NT_167247.2:g.1056753C>T, NT_167247.1:g.1062338C>T, NT_167244.2:g.1059915C>T, NW_003871063.1:g.36092C>T, NT_167244.1:g.1065509C>T

Select item 148435867712.

rs1484358677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29792840 (GRCh38)
6:29760617 (GRCh37)
Canonical SPDI:: NC_000006.12:29792839:G:A
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.29792840G>A, NC_000006.11:g.29760617G>A, NT_113891.3:g.1276600G>A, NT_113891.2:g.1276706G>A, NT_167248.2:g.1055802G>A, NT_167248.1:g.1061398G>A, NT_167245.2:g.1055825G>A, NT_167245.1:g.1061410G>A, NT_167249.2:g.1098991G>A, NT_167249.1:g.1098289G>A, NT_167246.2:g.1055416G>A, NT_167246.1:g.1061036G>A, NT_167247.2:g.1055491G>A, NT_167247.1:g.1061076G>A, NT_167244.2:g.1058650G>A, NW_003871063.1:g.34827G>A, NT_167244.1:g.1064244G>A, NR_002139.2:n.234C>T, NM_018985.1:c.-90C>T

Select item 148386549613.

rs1483865496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:29793499 (GRCh38)
6:29761276 (GRCh37)
Canonical SPDI:: NC_000006.12:29793498:G:A,NC_000006.12:29793498:G:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.29793499G>A, NC_000006.12:g.29793499G>T, NC_000006.11:g.29761276G>A, NC_000006.11:g.29761276G>T, NT_113891.3:g.1277262G>A, NT_113891.3:g.1277262G>T, NT_113891.2:g.1277368G>A, NT_113891.2:g.1277368G>T, NT_167248.2:g.1056464G>A, NT_167248.2:g.1056464G>T, NT_167248.1:g.1062060G>A, NT_167248.1:g.1062060G>T, NT_167245.2:g.1056484G>A, NT_167245.2:g.1056484G>T, NT_167245.1:g.1062069G>A, NT_167245.1:g.1062069G>T, NT_167249.2:g.1099650G>A, NT_167249.2:g.1099650G>T, NT_167249.1:g.1098948G>A, NT_167249.1:g.1098948G>T, NT_167246.2:g.1056075G>A, NT_167246.2:g.1056075G>T, NT_167246.1:g.1061695G>A, NT_167246.1:g.1061695G>T, NT_167247.2:g.1056150G>A, NT_167247.2:g.1056150G>T, NT_167247.1:g.1061735G>A, NT_167247.1:g.1061735G>T, NT_167244.2:g.1059312G>A, NT_167244.2:g.1059312G>T, NW_003871063.1:g.35489G>A, NW_003871063.1:g.35489G>T, NT_167244.1:g.1064906G>A, NT_167244.1:g.1064906G>T

Select item 148382539714.

rs1483825397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29794426 (GRCh38)
6:29762203 (GRCh37)
Canonical SPDI:: NC_000006.12:29794425:C:G
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29794426C>G, NC_000006.11:g.29762203C>G, NT_113891.3:g.1278188C>G, NT_113891.2:g.1278294C>G, NT_167248.2:g.1057390C>G, NT_167248.1:g.1062986C>G, NT_167245.2:g.1057411C>G, NT_167245.1:g.1062996C>G, NT_167249.2:g.1100577C>G, NT_167249.1:g.1099875C>G, NT_167246.2:g.1057002C>G, NT_167246.1:g.1062622C>G, NT_167247.2:g.1057077C>G, NT_167247.1:g.1062662C>G, NT_167244.2:g.1060238C>G, NW_003871063.1:g.36415C>G, NT_167244.1:g.1065832C>G

Select item 148339859515.

rs1483398595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29792767 (GRCh38)
6:29760544 (GRCh37)
Canonical SPDI:: NC_000006.12:29792766:G:A
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000006.12:g.29792767G>A, NC_000006.11:g.29760544G>A, NT_113891.3:g.1276527G>A, NT_113891.2:g.1276633G>A, NT_167248.2:g.1055729G>A, NT_167248.1:g.1061325G>A, NT_167245.2:g.1055752G>A, NT_167245.1:g.1061337G>A, NT_167249.2:g.1098918G>A, NT_167249.1:g.1098216G>A, NT_167246.2:g.1055343G>A, NT_167246.1:g.1060963G>A, NT_167247.2:g.1055418G>A, NT_167247.1:g.1061003G>A, NT_167244.2:g.1058577G>A, NW_003871063.1:g.34754G>A, NT_167244.1:g.1064171G>A, NR_002139.2:n.307C>T, NM_018985.1:c.-17C>T

Select item 148289081716.

rs1482890817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29793841 (GRCh38)
6:29761618 (GRCh37)
Canonical SPDI:: NC_000006.12:29793840:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.29793841C>T, NC_000006.11:g.29761618C>T, NT_113891.3:g.1277604C>T, NT_113891.2:g.1277710C>T, NT_167248.2:g.1056806C>T, NT_167248.1:g.1062402C>T, NT_167245.2:g.1056826C>T, NT_167245.1:g.1062411C>T, NT_167249.2:g.1099992C>T, NT_167249.1:g.1099290C>T, NT_167246.2:g.1056417C>T, NT_167246.1:g.1062037C>T, NT_167247.2:g.1056492C>T, NT_167247.1:g.1062077C>T, NT_167244.2:g.1059654C>T, NW_003871063.1:g.35831C>T, NT_167244.1:g.1065248C>T

Select item 148277172317.

rs1482771723 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAC [Show Flanks]
Chromosome:: 6:29792490 (GRCh38)
6:29760268 (GRCh37)
Canonical SPDI:: NC_000006.12:29792490::GAC
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: GAC=0.000006/1 (GnomAD_exomes)
GAC=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.29792490_29792491insGAC, NC_000006.11:g.29760267_29760268insGAC, NT_113891.3:g.1276271_1276272insGAC, NT_113891.2:g.1276377_1276378insGAC, NT_167248.2:g.1055473_1055474insGAC, NT_167248.1:g.1061069_1061070insGAC, NT_167245.2:g.1055475_1055476insGAC, NT_167245.1:g.1061060_1061061insGAC, NT_167249.2:g.1098641_1098642insGAC, NT_167249.1:g.1097939_1097940insGAC, NT_167246.2:g.1055066_1055067insGAC, NT_167246.1:g.1060686_1060687insGAC, NT_167247.2:g.1055141_1055142insGAC, NT_167247.1:g.1060726_1060727insGAC, NT_167244.2:g.1058321_1058322insGAC, NW_003871063.1:g.34498_34499insGAC, NT_167244.1:g.1063915_1063916insGAC, NR_002139.2:n.583_584insGTC, NM_018985.1:c.260_261insGTC, NR_132323.1:n.454_455insGAC, NM_001207043.1:c.352_353insGAC

Select item 147729943018.

rs1477299430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29792519 (GRCh38)
6:29760296 (GRCh37)
Canonical SPDI:: NC_000006.12:29792518:G:A
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.29792519G>A, NC_000006.11:g.29760296G>A, NT_113891.3:g.1276300G>A, NT_113891.2:g.1276406G>A, NT_167248.2:g.1055502G>A, NT_167248.1:g.1061098G>A, NT_167245.2:g.1055504G>A, NT_167245.1:g.1061089G>A, NT_167249.2:g.1098670G>A, NT_167249.1:g.1097968G>A, NT_167246.2:g.1055095G>A, NT_167246.1:g.1060715G>A, NT_167247.2:g.1055170G>A, NT_167247.1:g.1060755G>A, NT_167244.2:g.1058350G>A, NW_003871063.1:g.34527G>A, NT_167244.1:g.1063944G>A, NR_002139.2:n.555C>T, NM_018985.1:c.232C>T, NR_132323.1:n.483G>A, NM_001207043.1:c.381G>A

Select item 147713911619.

rs1477139116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29790537 (GRCh38)
6:29758314 (GRCh37)
Canonical SPDI:: NC_000006.12:29790536:T:C
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.29790537T>C, NC_000006.11:g.29758314T>C, NT_113891.3:g.1274323T>C, NT_113891.2:g.1274429T>C, NT_167248.2:g.1053525T>C, NT_167248.1:g.1059121T>C, NT_167245.2:g.1053522T>C, NT_167245.1:g.1059107T>C, NT_167249.2:g.1096688T>C, NT_167249.1:g.1095986T>C, NT_167246.2:g.1053113T>C, NT_167246.1:g.1058733T>C, NT_167247.2:g.1053188T>C, NT_167247.1:g.1058773T>C, NT_167244.2:g.1056373T>C, NW_003871063.1:g.32550T>C, NT_167244.1:g.1061967T>C

Select item 147710194220.

rs1477101942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29792387 (GRCh38)
6:29760164 (GRCh37)
Canonical SPDI:: NC_000006.12:29792386:C:T
Gene:: HCG4 (Varview), HLA-V (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.29792387C>T, NC_000006.11:g.29760164C>T, NT_113891.3:g.1276168C>T, NT_113891.2:g.1276274C>T, NT_167248.2:g.1055370C>T, NT_167248.1:g.1060966C>T, NT_167245.2:g.1055372C>T, NT_167245.1:g.1060957C>T, NT_167249.2:g.1098538C>T, NT_167249.1:g.1097836C>T, NT_167246.2:g.1054963C>T, NT_167246.1:g.1060583C>T, NT_167247.2:g.1055038C>T, NT_167247.1:g.1060623C>T, NT_167244.2:g.1058218C>T, NW_003871063.1:g.34395C>T, NT_167244.1:g.1063812C>T, NR_002139.2:n.687G>A, NM_018985.1:c.362G>A

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